TRNT1
TRUNCATED 405 aa (canonical 434 aa) · UniProt Q96Q11 · CDLMPS
chr3:3129127:+:ATG:ENST00000251607.11
AI summary Truncation removes the mitochondrial transit peptide, flipping predicted targeting from mitochondrion to cytoplasm/nucleus.
How it diverges
This N-terminal truncation deletes the 29-aa segment TargetP calls an mTP (mitochondrial transit peptide) in the canonical protein; in the isoform, targeting flips to noTP and DeepLoc's top compartment call shifts from Mitochondrion (canonical, calibrated at 0.92 probability, matching known biology) to Cytoplasm/Nucleus, with sorting-signal calls switching from a mitochondrial transit peptide to a nuclear localization/export signal. The retained CCA-nucleotidyltransferase catalytic core (InterPro domain, residues 27-433) is untouched and its fold is essentially identical to canonical (shared RMSD 0.28 Å, TM-score ~1.0), so this is specifically a predicted loss of mitochondrial addressing, not a catalytic-domain change.
Why it matters
TRNT1 is known to act in both the mitochondrion and cytosol, and its mitochondrial pool is essential for CCA-addition onto mt-tRNAs (e.g., tRNA-Ser(AGY), tRNA-Cys, tRNA-LeuUUR, tRNA-His), supporting OXPHOS protein synthesis and respiration; disease mutations that impair this function notably leave TRNT1 localization intact per the literature. A truncated isoform predicted to lose mitochondrial targeting would, if translated and stable, be expected to populate only the cytosolic/nuclear compartment and be unavailable for mitochondrial tRNA maturation — a mechanistically distinct route to the same functional deficit seen in SIFD, achieved by mislocalization rather than by catalytic impairment.
LLM confidence medium
The removed segment's own conservation and disease/germline signal are weak and non-clustered (scattered ClinVar frameshift/stop variants, no missense concentration, gnomAD depletion ratio ~1), and the isoform lacks direct mass-spec peptide validation, so this remains a plausible but unconfirmed localization-switch hypothesis rather than a firmly established one.
Folding
Canonical (434 aa)
Download CIF
Isoform (405 aa)
Download CIF
Coloured by ESMFold2 pLDDT confidence (blue = high, orange/red = low).
Differential region — residues 1–29 (lost from canonical) — recoloured on a yellow→purple pLDDT ramp so it stands out.
Drag to rotate · scroll to zoom · download a CIF to explore in your own viewer.
Canonical PAE
Isoform PAE
Predicted aligned error: expected Cα error (Å) at residue j when the fold is superposed on residue i. Dark = confident relative placement; bright = uncertain.
The dashed outline marks the differential region (1–29).
Evidence — click any tile for the differential-region detail
C
Conservation
Neutral
LLM reasoning
The N-terminal segment removed by this truncation shows real but clearly weaker conservation than the shared canonical body, arguing it is under milder constraint rather than being either neutral or critically important. Primate identity is 84.0% versus 96.5% for the canonical protein, and mammalian identity drops further to 67.4% versus 90.8% canonical — a consistent gap suggesting this N-terminal region is less constrained than the retained core, though still recognizably conserved rather than random. Absolute phyloP over the unique region is 1.51, below the ~2 threshold for strong purifying selection, and notably lower than the shared region's 3.37, reinforcing that this removed segment is under weaker selective constraint than the rest of the protein. Together these point to a moderately conserved but not strongly constrained N-terminal extension of the canonical protein, so the conservation evidence does not strongly argue either for or against functional importance of the truncated segment.
Unique region 84.0% similar across primates
How well is the isoform-unique region conserved at the amino-acid level across primates (mean percent identity)? High AA identity in close relatives argues the alternative protein is real and translated, not a sequencing or annotation artifact. (Reading-frame intactness is shown as context.)
Comparison
Sequence conservation · primate
mean AA identity over the differential ORF is the score basis; frame intactness across the clade is context
| Conservation metric | Canonical ORF | Differential ORF |
|---|---|---|
| Mean AA identity | 96% | 84% |
| Frame intact (fraction of species) | 60% | 96% |
| Species aligned | 25 | 25 |
| Species frame-intact | 15 | 24 |
| Start codon conserved | 100% | 100% |
| Deepest intact species | Callithrix_jacchus | Microcebus_murinus |
| Phylo depth (MRCA) | 6 | 7 |
Unique region 67.4% similar across mammals
The same amino-acid identity test across mammals. Conservation over deeper evolutionary distance is stronger evidence the ORF is under selection to be translated. (Reading-frame intactness is shown as context.)
Comparison
Sequence conservation · mammalian
mean AA identity over the differential ORF is the score basis; frame intactness across the clade is context
| Conservation metric | Canonical ORF | Differential ORF |
|---|---|---|
| Mean AA identity | 91% | 67% |
| Frame intact (fraction of species) | 60% | 89% |
| Species aligned | 20 | 19 |
| Species frame-intact | 12 | 17 |
| Start codon conserved | 95% | 95% |
| Deepest intact species | Echinops_telfairi | Loxodonta_africana |
| Phylo depth (MRCA) | 12 | 12 |
Unique region PhyloP: 1.51 — purifying selection
phyloP / phastCons measure per-base evolutionary constraint. A high absolute phyloP over the differential region means the sequence itself is under strong purifying selection — evidence it is coding and does something. (Enrichment over the shared core is shown as context only.)
Comparison
Per-base conservation · differential region
absolute mean phyloP over the differential region is the score basis (high = strong purifying selection); the shared column and enrichment are context, not the claim
| Track | Differential | Shared | vs shared |
|---|---|---|---|
| phyloP mean | 1.51 | 3.37 | 0.449 |
| phastCons mean | 0.395 | 0.833 | — |
Start site · canonical vs isoform
initiation context + per-base conservation at each start codon
| Property | Canonical | Isoform |
|---|---|---|
| Start codon | ATG | ATG |
| Kozak context (−9..+4) | CCTCTCCAGATGC | CTATTCACAATGA |
| phyloP at start codon | 5.85 | 6.42 |
| phastCons at start codon | 1 | 1 |
| phyloP over Kozak window | 3.53 | 3.78 |
| phastCons over Kozak window | 0.51 | 0.773 |
| Kozak mismatch — full consensus | 8 | 7 |
| Kozak window GC content | 0.615 | 0.308 |
D
Detection
Neutral
LLM reasoning
This truncated isoform's downstream alt start site is robustly and reproducibly used - detected with significant p-values in 4 of 6 cell lines (HeLa, K562, U2OS, RPE1-Senescent) - and its initiation efficiency (max 0.078 in HeLa) is essentially identical to the canonical start's efficiency in the same cell line (0.078), meaning ribosomes use this downstream site about as often as the annotated start, not a rare leaky event. However, this ribosome-profiling signal only confirms translation initiation at the site, not the protein product identity; the mass-spec check found no validated peptides distinguishing the isoform, with the single candidate unique peptide failing PepQuery2 validation (0/1). So strong initiation evidence is offset by an absence of direct proteomic confirmation, leaving the category mixed rather than clearly supportive.
detected in 4/6 cell lines
Is the alternative start used in more than one cell line? Reproducible initiation across independent samples argues against a one-off ribosome artifact.
Comparison
Per-cell-line usage · canonical vs isoform
Fisher q = 3.45e-21
| Cell line | Canonical | Isoform | p-value |
|---|---|---|---|
| HeLa | 3.65 | 3.65 | 2.93e-11 |
| K562 | 4.66 | 0.765 | 3.45e-21 |
| U2OS | 0.884 | 0.368 | 6.85e-07 |
| RPE1 Que | 0.586 | — | — |
| RPE1 Sen | 0.181 | 0.227 | 0.000327 |
alt used 1× vs canonical
How efficiently ribosomes initiate at this start (TIS) relative to background, per cell line. Strong, reproducible initiation supports a genuine translation event.
Comparison
Start-Site Usage · canonical vs isoform
ribosome initiation efficiency at the canonical start vs this alternative start, per cell line
| Cell line | Canonical | Isoform |
|---|---|---|
| HeLa | 0.0778 | 0.0778 |
| K562 | 0.0941 | 0.0154 |
| U2OS | 0.0263 | 0.011 |
| RPE1 Que | 0.0414 | — |
| RPE1 Sen | 0.0113 | 0.0141 |
0/1 isoform-unique peptides validated
Were tryptic peptides unique to the differential region detected by mass spec? Direct peptide evidence is the strongest proof the isoform protein exists.
Comparison
Peptide Evidence (canonical vs isoform)
isoform-unique peptides are direct evidence the alternative protein exists
| Feature | Canonical | Isoform |
|---|---|---|
| Tryptic peptides (in-silico) | 70 | 1 |
| Validated by mass-spec | 0 | 0 |
| Isoform-unique peptides | — | 1 |
Details
Peptide Evidence (canonical vs isoform)
- peptide MKLQSPEFQSLFTEGLK 0–17
L
Localization
Interesting
LLM reasoning
This N-terminal truncation removes the mitochondrial targeting signal, and both localization submodules converge on a consistent, mechanistically coherent readout: TargetP flips from mTP (mitochondrial transit peptide) to noTP with a large probability shift (mitochondrial-transit-peptide probability drops by 0.79), while DeepLoc's predicted compartment shifts from Mitochondrion (canonical, top probability 0.92) to Cytoplasm/Nucleus (isoform, top probability 0.78), with sorting-signal calls changing from a mitochondrial transit peptide to a nuclear localization/export signal. Membrane association is unchanged (soluble in both), so this is specifically a loss-of-mitochondrial-targeting event rather than a broader biophysical change. Since the removed 29-aa segment (MLRCLYHWHRPVLNRRWSRLCLPKQYLFT) is exactly the region expected to house an N-terminal mitochondrial presequence, this truncation plausibly produces a mislocalized, non-mitochondrial isoform of TRNT1 — a clear, biologically consequential signal in this dimension.
iso: Cytoplasm, Nucleus | canon: Mitochondrion
Do the predicted localization features (DeepLoc prediction, sorting signals, or membrane association) differ between the canonical and the isoform? A protein with changed localization features acts in a different cellular context.
Comparison
Subcellular localization (DeepLoc)
localization features changed (prediction/signals/membrane)
| Property | Canonical | Isoform |
|---|---|---|
| Predicted location | Mitochondrion | Cytoplasm|Nucleus |
| Sorting signals | Mitochondrial transit peptide | Nuclear localization signal|Nuclear export signal |
| Membrane | Soluble | Soluble |
iso: noTP | canon: mTP
Do N-terminal targeting signals (SignalP secretion, TargetP mitochondrial/chloroplast) differ between canonical and isoform? N-terminal changes most directly add or remove targeting peptides.
M
Mutation Landscape
Not interesting
LLM reasoning
Neither germline constraint nor disease enrichment show a meaningful signal in the removed N-terminal 29 residues. The gnomAD depletion ratio is 1.08 (no avoidance) and while ESM-C flags a 3.9x constraint enrichment, only 1 constrained position exists in the unique region versus 4 in the shared core — too thin to anchor a constraint claim. Disease density is essentially flat (enrichment ratio 1.09; 47 unique vs 600 shared variants), and the only 3 pathogenic ClinVar calls in the region are singletons at residues 0, 10, and 24 (canonical numbering) — a scattered set, not a hotspot, and all are frameshift/stop_gained rather than missense, so no AlphaMissense/ESM-C corroboration is possible for them. COSMIC recurrence in the region is minimal (max cosmic_sample_count of 3, mostly singletons), and AlphaMissense classifies the region's missense variants as overwhelmingly likely_benign (mean 0.11, only 2/68 likely_pathogenic). Together this argues against the removed segment being a disease-critical or constrained hotspot.
gnomAD variants comparable in unique region — neutral
Does healthy human germline variation (gnomAD) avoid this region (depletion ratio < 1×), and is it intrinsically constrained (ESM-C constraint delta > 0)? Depletion of population variation plus high sequence constraint mean the region resists change — it is functionally important. Scored only where the unique region is canonical coding sequence, i.e. on truncations. gnomAD is a tolerance catalogue, not a disease one; disease/cancer variants (ClinVar / COSMIC) live in M2.
Comparison
Germline Variants · differential vs shared region
gnomAD (population) variant density per nucleotide — depletion ratio < 1× means healthy human variation avoids the region (constrained), the M1 basis alongside ESM-C constraint
| Variant set | Differential | Shared | Depletion ratio |
|---|---|---|---|
| gnomAD variants | 70 | 902 | 1.1× |
Sequence constraint (ESM-C) · differential vs shared region
lower LLR = more constrained; enrichment = differential / conserved
| Property | Differential | Shared | Enrichment |
|---|---|---|---|
| ESM-C mean LLR | -2.5 | -0.642 | — |
| Constrained positions | 1 | 4 | — |
Predicted-damaging variants · germline (gnomAD)
AlphaMissense / ESM-C / LoF calls per region (length-normalized)
| Variant set | Differential | Shared | Enrichment |
|---|---|---|---|
| Scorable variants | 69 | 890 | 1.1× |
| Damaging variants | 8 | 316 | 0.35× |
| — of which loss-of-function | 6 | 107 | 0.78× |
| AlphaMissense-pathogenic | 2 | 166 | 0.17× |
Predictor scores · germline (gnomAD)
scored: 1382 ESM-C · 1017 AlphaMissense
| Property | Differential | Shared |
|---|---|---|
| Mean ΔLLR (ESM-C) | -0.606 | -4.06 |
| Min ΔLLR (ESM-C) | -7.21 | -13.9 |
| Mean AlphaMissense | 0.125 | 0.382 |
Disease variants comparable in unique region — neutral
Are disease (ClinVar / COSMIC) variants enriched per nucleotide in the differential region versus the shared core (disease enrichment ratio ≥ 1×)? Disease variants concentrating in the unique region tie it to phenotype.
Comparison
Clinical-variant burden · differential vs shared region
counts per region; ratio is density-normalized (variants per nucleotide, differential ÷ shared — ≥1× = disease variants concentrate in the differential region, the M2 basis)
| Variant set | Differential | Shared | Enrichment |
|---|---|---|---|
| Disease variants | 47 | 600 | 1.1× |
| Pathogenic | 3 | 82 | 0.51× |
Predicted-damaging variants · disease (ClinVar/COSMIC)
AlphaMissense / ESM-C / LoF calls per region (length-normalized)
| Variant set | Differential | Shared | Enrichment |
|---|---|---|---|
| Scorable variants | 45 | 589 | 1.1× |
| Damaging variants | 4 | 226 | 0.25× |
| — of which loss-of-function | 4 | 94 | 0.59× |
| AlphaMissense-pathogenic | 0 | 110 | 0× |
Predictor scores · disease (ClinVar/COSMIC)
scored: 1382 ESM-C · 1017 AlphaMissense
| Property | Differential | Shared |
|---|---|---|
| Mean ΔLLR (ESM-C) | -0.419 | -4.11 |
| Min ΔLLR (ESM-C) | -7.21 | -14.2 |
| Mean AlphaMissense | 0.0813 | 0.401 |
P
Predicted Structure
Not interesting
LLM reasoning
The truncation removes a 29-residue N-terminal segment containing a modestly confident 14-residue strand (pLDDT 0.767) plus a boundary-spanning 6-residue strand, but this segment is not integrated with the rest of the fold: contacts from residues 1-29 are sparse (13 total, essentially just the 30-31 boundary and 165-169) rather than a broad interface, and the PAE between residues 1-29 and the remainder of the protein averages 23.8 Å, meaning its placement relative to the core is essentially unresolved even though it folds locally. The shared-core RMSD is negligible (0.28 Å, TM-score ~1.00) and is well-supported by high global pTM (0.969/0.928) and high shared pLDDT (~0.96), so there is no evidence the truncation perturbs the retained core's fold. Together this indicates the lost element is a dangling, weakly-docked strand rather than a load-bearing structural feature, so the structural evidence does not support a functionally consequential loss.
pLDDT Differential Region:
0.736
Does the gained/lost region fold into ordered structure (pLDDT) and shift the protein's biophysical character (charge, hydropathy, disorder)? Structured, biophysically distinct regions are more likely to be functional.
Comparison
Structure (ESMFold2) · canonical vs isoform
TM-score 0.965 · RMSD 0.283 Å
| Metric | Canonical | Isoform |
|---|---|---|
| pLDDT (whole protein) | 0.945 | 0.963 |
Fold confidence · differential vs shared region
mean ESMFold2 pLDDT in each region
| Metric | Differential | Shared | Enrichment |
|---|---|---|---|
| pLDDT | 0.736 | 0.733 | 1 |
Shared-Region RMSD:
0.28 Å
The shared region is the stretch of protein identical in both the isoform and the canonical (the canonical body for an extension; the post-truncation body for a truncation). Folded in both contexts it normally comes out nearly identical, so its Cα backbone RMSD ≈ 0. A high shared-region RMSD (superposed on the shared residues only, from the ESMFold2 structures) means the extension or truncation reorganizes how the retained region folds — a rare, high-interest functional signal. TM-score is a length-normalized companion; the check only fires when both structures are confidently folded, and uORF/altORF isoforms (no shared region) are not evaluable.
Comparison
Shared-region structural change
Cα RMSD superposed on the shared residues only; TM-score is length-normalized · shared-region Cα RMSD 0.283 Å · shared TM-score 0.998 · shared region 405 aa · min shared pLDDT 0.96 · global TM-score 0.965 · global RMSD 0.283 Å
| Property | Canonical | Isoform |
|---|---|---|
| Shared-region pLDDT | 0.96 | 0.963 |
2 secondary structures identified in unique region
Does the differential region contain actual secondary structure — a helix or strand — rather than coil? ESMFold2 predicts coordinates but no secondary structure, so elements are assigned from those coordinates (P-SEA, Cα geometry). Because they are derived from a prediction, each element carries its own mean pLDDT: a geometrically clean helix running through a disordered stretch is geometry fitted to a guess, so BOTH length and confidence are required to score. The direction differs by ORF type — an extension GAINS the element (a candidate functional addition), a truncation LOSES one, and there the element is read off the canonical structure because the removed segment exists only in it. This says nothing about whether the element is integrated with the rest of the fold; the contact and PAE evidence in this same category answers that.
Comparison
Secondary structure · differential vs shared region
helices and strands assigned from the predicted coordinates (P-SEA)
| Metric | Differential | Shared |
|---|---|---|
| Alpha helices | 0 | 20 |
| Beta strands | 2 | 3 |
| Longest element (aa) | 14 | 18 |
| Mean pLDDT | 0.81 | 0.97 |
Elements and coordinates
2 in the differential region, 23 in the shared core — residue numbering is 1-based on the protein holding the region
| Removed (canonical) | Shared core |
|---|---|
| beta strand 2–15 14 aa · pLDDT 0.77 | alpha helix 35–40 6 aa · pLDDT 0.98 |
| beta strand 28–33 6 aa · pLDDT 0.85 | alpha helix 43–55 13 aa · pLDDT 0.98 |
| — | beta strand 56–62 7 aa · pLDDT 0.97 |
| — | alpha helix 64–71 8 aa · pLDDT 0.98 |
| — | alpha helix 86–96 11 aa · pLDDT 0.97 |
| — | beta strand 109–114 6 aa · pLDDT 0.98 |
| — | beta strand 118–123 6 aa · pLDDT 0.97 |
| — | alpha helix 144–150 7 aa · pLDDT 0.96 |
| — | alpha helix 171–178 8 aa · pLDDT 0.95 |
| — | alpha helix 187–193 7 aa · pLDDT 0.97 |
| — | alpha helix 196–207 12 aa · pLDDT 0.98 |
| — | alpha helix 217–225 9 aa · pLDDT 0.98 |
| — | alpha helix 235–247 13 aa · pLDDT 0.98 |
| — | alpha helix 250–261 12 aa · pLDDT 0.98 |
| — | alpha helix 275–285 11 aa · pLDDT 0.98 |
| — | alpha helix 303–312 10 aa · pLDDT 0.98 |
| — | alpha helix 317–328 12 aa · pLDDT 0.98 |
| — | alpha helix 343–352 10 aa · pLDDT 0.94 |
| — | alpha helix 357–369 13 aa · pLDDT 0.98 |
| — | alpha helix 371–380 10 aa · pLDDT 0.96 |
| — | alpha helix 390–396 7 aa · pLDDT 0.96 |
| — | alpha helix 401–418 18 aa · pLDDT 0.96 |
| — | alpha helix 424–433 10 aa · pLDDT 0.95 |
Below threshold
0 in the differential region, 3 in the shared core — shorter than 6 aa or below pLDDT 0.70, so not counted above
| Removed (canonical) | Shared core |
|---|---|
| — | beta strand 77–81 5 aa · pLDDT 0.98 |
| — | beta strand 158–160 3 aa · pLDDT 0.98 |
| — | beta strand 164–168 5 aa · pLDDT 0.95 |
S
Structural Characteristics
Neutral
LLM reasoning
Evidence is mixed and largely uninformative about functional consequence: the 29-aa N-terminal segment removed by this truncation does not overlap any real InterPro domain (the CCA-adding nucleotidyltransferase domain architecture is intact in the shared region), and whole-protein hydropathy, charge, and disorder shift only trivially (deltas of -0.004, 0.003, 0.009, all below threshold). The sparse-autoencoder check does cross its magnitude threshold (top shared-feature activation shift 13.17 vs threshold 10.0, driven by loss of a feature strongly localized to the removed region), but this is a single differential-region-associated activation shift without a clear biophysical or domain correlate, so it doesn't independently establish functional impact. Taken together, the structural-characteristics evidence is inconclusive rather than a clear positive or negative signal for this truncation.
No diverging domains
Does the isoform gain or lose a real InterPro functional domain in the differential region (disorder/structural-only signatures excluded)? Gaining or losing a domain changes function directly.
Comparison
Domains & motifs (canonical vs isoform)
gained = only in the isoform; lost = only in the canonical
| Feature | Canonical | Isoform |
|---|---|---|
| InterPro domains | 10 | 10 |
| Short linear motifs | 2 | 2 |
similar hydropathy · less charged (-0.05) · less disordered (-0.13)
Biophysical character of the isoform-differential region versus the shared canonical core — pI, hydropathy, charge, disorder and related properties. Descriptive; the folding (P1) score keys off the GRAVY / charge / disorder deltas.
Comparison
Biophysics · differential vs shared region
highlighted rows are enriched in the differential region
| Property | Differential | Shared | Enrichment |
|---|---|---|---|
| Isoelectric point (pI) | 11.4 | 6.33 | 1.8 |
| Hydropathy (GRAVY) | -0.421 | -0.479 | 0.878 |
| Fraction charged | 0.276 | 0.324 | 0.853 |
| Disorder fraction | -0.0417 | 0.0869 | -0.48 |
| Disorder-promoting | 0.345 | 0.541 | 0.638 |
| Low-complexity fraction | 0 | 0 | — |
| Prion-like fraction | 0.172 | 0.22 | 0.784 |
| LLPS score | 0.129 | 0.13 | 0.995 |
| π–π propensity | 0.483 | 0.247 | 1.96 |
| Aromaticity | 0.172 | 0.0864 | 2 |
| Instability index | 113 | 29.5 | 3.82 |
| Shannon entropy | 3.58 | 4.11 | 0.87 |
| Normalized complexity | 0.828 | 0.951 | 0.87 |
220 SAE features differ
Sparse-autoencoder (SAE) interpretability features on the ESM-C residual stream, comparing the isoform against the canonical protein. This is the S3 criterion — a presence check that fires when any interpretable feature is gained or lost. Only the top 30 features per category (ranked by activation, prevalence ≥ 2) are saved; each table shows the top 10 interpretable features, and generic / "unknown" features are hidden unless you expand it. What are SAE features? →
Part 1 · Global feature comparison
Which SAE features fire in the isoform vs the canonical protein, across the whole sequence.
Isoform-only features — 31 total (prevalence ≥ 2)
| Feature | Label | Description | Activation | Prevalence |
|---|---|---|---|---|
| #15331 | Glycosyltransferase catalytic-site signature | Conserved glycosyltransferase catalytic-site signature: activation centers on the nucleotide‑sugar donor‑binding catalytic cluster—often acidic DxD/ExD/DxH in metal‑binding GT‑A/GT‑2, or metal‑independent acidic/His-containing motifs in GT‑B/GT29—together with nearby small/neutral and aromatic micro‑motifs (notably W‑GG and ST/TTG) that shape the donor/acceptor-binding region across diverse GT families | 5.11 | 2 |
| #1049 | Conserved flavoprotein beta-strand motif | A structural/sequence signal marking a short conserved beta-strand segment in the core of acyl-CoA dehydrogenase / flavin-dependent CoA-reductase family enzymes, located ~10–30 residues upstream of the FAD-binding regions and excluding the catalytic proton-acceptor and cofactor-ligating residues. | 3.26 | 2 |
| #1911 | Solvent-exposed beta-sheet edges | Solvent‑exposed residues in well‑ordered β‑strands and their adjoining turns, especially edge/terminal strands of β‑sheets in β‑sandwich or α/β enzyme cores (often in extracellular/periplasmic/ER‑lumenal domains and near β‑sheet→TM junctions), enriched for acidic/hydroxyl residues with frequent Gly/Pro and occasional aromatics. | 2.67 | 2 |
| #15664 | Hydrophobic helix core residues | Hydrophobic packing residues in well-ordered alpha-helices of helical domains and bundles; the feature highlights nonpolar helix positions (mainly L/I/V/A/F/Y/M) that stabilize the fold rather than catalytic motifs, across diverse alpha-helical proteins. | 2.48 | 2 |
| #2636 | NTase NTP/Mg2+ binding pocket | Conserved NTP/Mg2+-binding pocket subregion across the NTase superfamily (adenylyl-/uridylyl-/cytidylyl- and cyclic-dinucleotide synthases), with spillover to an adjacent scaffold helix in related nucleotidyl cyclases (GGDEF diguanylate cyclases and class III adenylate cyclases). | 2.23 | 2 |
| #10336 | Exposed non-membrane helical faces | Structural signal for well-ordered, non-membrane α-helices—especially coiled-coils and long helical-bundle elements used for oligomerization/scaffolding—highlighting solvent-exposed, often charged helical faces rather than a specific biochemical function. | 2.13 | 2 |
| #11895 | Clamshell LBD ligand edges | Short beta‑strand and adjacent tight‑turn residues that come in two discontinuous sequence segments and form the edges of small‑molecule ligand‑binding sites in clamshell/two‑subdomain ligand‑binding domains (periplasmic solute‑binding/venus‑flytrap–like and homologous regulatory domains), with analogous beta‑strand termini weakly flagged in other globular folds | 2.12 | 2 |
| #5771 | Exposed glycan-binding edge strands | Short, exposed beta‑strand/loop patches in secreted or surface proteins that constitute carbohydrate‑recognition/adhesive interfaces (aromatic platform residues on S/T/G/A‑rich strands), typically positioned just after signal peptides at N‑terminal domain edges; in non‑carbohydrate secreted proteins the same pattern appears on N‑terminal edge strands (e.g., flanking BRICHOS domains). | 2.02 | 2 |
| #3011 | Alpha-helical interaction surfaces | Alpha-helical macromolecular-interaction surfaces—isolated residues on well-structured helices used for protein–protein or protein–DNA contacts—most frequently in regulatory/signaling proteins (two-component histidine kinases, eukaryotic serine/threonine kinases, sigma/HTH transcription factors), and also in small helical carrier proteins, envelope coiled-coil energizer components (e.g., TolR), and multi-component redox enzymes (e.g., flavin reductases)—rather than catalytic motifs. | 1.70 | 2 |
| #40 | Generic multi-pass transmembrane helices | Alpha-helical transmembrane segments of multi-pass integral membrane proteins—predominantly transporters (permeases, efflux pumps/flippases, ABC/MFS/MATE, nucleotide‑sugar carriers) but also embedded membrane enzymes involved in glyco-/lipid processing (e.g., ArnT, PMTs)—capturing generic TM helices rather than substrate-specific motifs. | 1.68 | 2 |
| #10776 | C-terminal active-site lid | C-terminal capping/lid subdomain of soluble metabolic enzymes—including oxidoreductases (e.g. glycerol-1-phosphate dehydrogenases, KDO 8-oxidase) and other phosphate/sugar-metabolism families—comprising mixed helices/strands and loops that close/stabilize the active-site region or oligomeric interface, often centered on a conserved basic/aromatic motif (e.g. R-X-R/Y-T-I/L-L). | 1.68 | 3 |
| #14463 | N-terminal WD40/transmembrane regions | N-terminal regions of multi-bladed β-propeller / WD40 repeat proteins, plus the N-terminal extracellular/transmembrane segments of certain multi-pass membrane regulators. The feature highlights the first several WD40 blades of a repeat array (typically blades 1-5), with activation distributed across the β-strands of each blade rather than on a discrete sequence motif. | 1.64 | 2 |
| #13635 | Isoprenoid acidic catalytic motifs | Acidic catalytic motifs of isoprenoid enzymes—including the Mg2+-coordinating DDXXD and NSE/DTE sites of class I terpene cyclases and head‑to‑head/head‑to‑tail prenyltransferases, and the protonating DxDD motif of class II cyclases (e.g., copalyl diphosphate synthases); secondarily, the feature lights up analogous acidic/metal‑binding patches in other metalloenzymes. | 1.63 | 2 |
| #8744 | OMP beta-barrel signature | Signature for the β-barrel architecture of outer-membrane proteins (OMPs)—porins and secretion/assembly barrels—capturing β-strands and connecting loop regions in Gram-negative bacteria (and analogous organelle outer-membrane pores). Also accommodates a subset of outer-membrane–associated lipid A–modifying enzymes (e.g., lipoprotein phosphatases) that lack a full barrel but share conserved OM-facing β-rich/loop motifs. | 1.61 | 2 |
| #14418 | Polymerase nucleic acid interface | Nucleic‑acid–contacting surfaces of polymerase cores and analogous helical‑repeat interfaces—i.e., long helical/loop segments that line the template–primer/NTP channel (palm/fingers region) or the concave basic surface used to bind DNA/RNA; strongest in Y‑family translesion DNA polymerase catalytic cores, with weaker activation across other nucleic‑acid–binding proteins | 1.59 | 2 |
| #14713 | Central amphipathic interface segment | Generic amphipathic, hydrophobic interface segment in small proteins and small subunits—typically a short core/assembly element in the 25–60 residue region that forms a hydrophobic face (often glycine-tolerant and mixed with E/K/D/R) used for oligomerization or binding (protein–protein or protein–RNA/DNA) across diverse folds and taxa | 1.57 | 2 |
| #8802 | Acidic proline-rich IDR linkers | Eukaryotic low‑complexity, proline/serine‑ and acidic‑rich intrinsically disordered regions that serve as multivalent interaction/regulatory segments, frequently flanking or linking SAM/Pointed (PNT) domains and helical repeat modules and sometimes extending into the SAM helical bundle itself; the same compositional pattern also occurs in large signaling scaffolds and retroviral Gag polyproteins. | 1.47 | 2 |
| #3345 | Conserved hydrophobic lid helix | A long, hydrophobic alpha-helical segment (often amphipathic with Trp/Tyr at boundaries and occasional Gly/Pro kinks) that serves as a packing/dimerization or substrate‑gating "lid" helix in many enzymes; broadly conserved across taxa. | 1.45 | 2 |
| #3596 | Phycobilisome linker cationic patches | Broad activation across phycobilisome linker domains in cyanobacterial and algal phycobiliproteins, with additional short surface-exposed interaction patches in extracytoplasmic proteins characterized by cationic enrichment and/or a neighboring aromatic–acidic dyad; used for docking to extracellular macromolecules (peptidoglycan/glycans, membranes, or partner proteins) or forming part of glycan- or lipid-active catalytic surfaces. Occasional cytosolic enzymes show the same motif on surface loops adjacent to catalytic pockets. | 1.27 | 2 |
| #5528 | Juxtamembrane anchoring scaffold | A short, well-structured juxtamembrane/interface segment—typically a strand→turn→short α-helix (or loop→helix) immediately after or between transmembrane helices—enriched in hydrophobic/aromatic residues and flanked by Lys/Arg, that anchors membrane enzymes (especially lipid acyltransferases) at the bilayer surface and scaffolds the loop preceding catalytic motifs (often just upstream of HXXXXD); analogous helix/loop junctions in soluble proteins can also weakly match. | 1.27 | 2 |
| #12101 | SecA Arg-Asp-rich motif | A conserved Arg-Asp/Glu-rich short motif located in a beta-strand/loop element of the SecA ATPase, downstream of the Walker A/B nucleotide binding region. | 1.24 | 2 |
| #12249 | MFS cytoplasmic gating helices | Conserved short cytoplasmic inter-helical helices of the MFS fold—particularly the intracellular loop helices linking TM4–TM5 and TM10–TM11—that constitute the cytoplasmic gate/latch used for alternating-access (often proton-coupled) transport; the feature highlights these gating segments rather than substrate-binding sites across diverse SLC/MFS transporters and related permeases. | 1.24 | 2 |
| #13153 | Polytopic ion-coupled membrane transporters | The feature identifies polytopic integral membrane transport proteins across all domains of life. It is enriched for ion-coupled antiporters and exchangers (especially cation/H+ systems), divalent metal transporters, multiple eukaryotic SLC families, channel-type transporters, bacterial PTS permeases, and energy-coupled rotor components. Organelle-targeted transporters (mitochondrial, chloroplastic, vacuolar/endosomal) are common, consistent with a moderate SwissProt frequency (~6%). | 1.15 | 2 |
| #13885 | TBDT mid-barrel loop/strand belt | Mid-barrel extracellular loop/strand belt of TonB-dependent outer membrane transporters that forms the substrate-recognition/gating surface. The feature consistently highlights a contiguous segment of the TBDT beta-barrel encompassing multiple transmembrane beta strands and the adjacent, surface-exposed extracellular loops that determine ligand specificity (siderophores, host iron sources, cobalamin, and bacteriocins), while avoiding the N‑terminal plug (cork) and TonB interaction motifs. | 1.13 | 2 |
| #14482 | Extracellular binding loops | Extracellular attachment/recognition segments: flexible, Ser/Thr/Gly/Ala‑rich loops and adjacent β‑edge regions that form binding interfaces on secreted or surface‑exposed proteins—most often mediating glycan binding/processing or receptor interactions (e.g., lectins, phage tailspikes/fibers and depolymerases, autotransporter adhesins, viral attachment fibers, and cystine‑knot growth factors and their antagonists) | 1.12 | 2 |
| #2244 | C-terminal pocket-capping helices | C-terminal capping/lid segments that line or modulate ligand- or cofactor-binding pockets—most prominently the sugar-binding/specificity surfaces of carbohydrate-active enzymes—typically composed of a helical element plus adjacent flexible loop. | 1.12 | 2 |
| #2951 | C-terminal catalytic subdomain | Contiguous C‑terminal substrate‑recognition/catalytic subdomains in enzyme active sites—prototypically the target‑recognition/catalytic lobe of DNA cytosine‑5 methyltransferases—characterized by mixed alpha/beta segments often enriched in Gly (GG/GxG) and basic residues (Lys/Arg). | 1.08 | 2 |
| #1487 | Conserved ATPase C-terminal subdomains | Conserved C-terminal/motor-proximal subdomains of ATP-powered molecular machines (AAA+/P-loop NTPases, helicases, clamp loaders, ATP-dependent proteases, kinase-like NTPases). These tend to be structured subdomains adjacent to the ATPase core (e.g., short helices and strands forming interaction/oligomerization surfaces), and can also include short acidic C-terminal tails or, in membrane-associated enzymes, segments immediately before (and including) the terminal transmembrane helix that may host phosphorylation sites. | 1.06 | 3 |
| #5941 | Polar/acidic junction motifs | Short polar/acidic secondary-structure junctions—β-turns, β‑strand edges and α‑helix N‑caps—enriched in G/S/T/D/E (often with P), typically forming compact loop/turn segments that frame active/ligand‑binding surfaces or mark the starts of domains across diverse folds. | 1.05 | 2 |
| #4764 | Unknown generic feature | Unknown generic feature | 1.86 | 2 |
Canonical-only features — 189 total (prevalence ≥ 2)
| Feature | Label | Description | Activation | Prevalence |
|---|---|---|---|---|
| #8545 | N-terminus accessibility sensor | Detector of accessible peptide chain termini—primarily the extreme N-terminus (initiator methionine and immediate neighbors) in flexible, unstructured tails; position-specific rather than residue-specific—with occasional weak recognition of the C-terminus; common but not universal. | 11.11 | 3 |
| #12227 | Tryptophan residue detector | Residue-level detector for tryptophan (W) side chains, often firing on multiple W positions within a sequence and with a mild bias toward N‑terminal Ws; broadly applicable across taxa and protein classes, with frequent occurrences in short membrane/secreted proteins but also in diverse enzymes (e.g., ATP synthase ε, proteases) and mitochondrial proteins. | 10.97 | 2 |
| #9852 | N-terminus activation; hydrophobic helices secondary | Extreme N-terminal regions of proteins, starting at the initiator methionine and extending over a short stretch, with occasional secondary activation at internal hydrophobic/amphipathic helices. | 10.00 | 29 |
| #7903 | Arginine-rich polybasic patches | Basic polycationic patches enriched in arginine (often with lysine) within low-complexity/disordered regions, frequently N-terminal. These include classical monopartite NLSs, nucleic acid–binding basic tails, signal peptide n-regions and cytosolic juxtamembrane segments (positive-inside rule), and basic clusters in secreted precursors; typically depleted of acidic residues. | 9.23 | 5 |
| #448 | N-terminal leader/targeting segments | N-terminal leader/targeting segments: the feature activates on the extreme N-terminus (first 2–5 residues) of proteins, especially the N-region of signal peptides and organelle transit peptides, and more generally on short, disordered/low-complexity N-terminal tails; strongest at residue ~3 and largely independent of amino-acid identity, occurring across all taxa and functions. | 8.41 | 2 |
| #9234 | Charged low-complexity disordered regions | Intrinsically disordered, low-complexity segments enriched for Lys and acidic residues (E/D), plus N/Q, that include both polyampholyte and basic-residue tracts; typically flexible terminal tails and linker regions in diverse eukaryotic and viral proteins, including many small/secreted proteins and membrane-protein loops | 8.16 | 2 |
| #6849 | Ser/Thr-rich disordered segments | Low-complexity and disordered segments, typically enriched in Ser/Thr and often Lys/Arg, including N-terminal signal/transit-like leaders and downstream propeptides, as well as internal disordered linkers, inserts, and basic/disordered tails of soluble proteins. | 8.05 | 27 |
| #677 | Basic low-complexity disordered regions | Compositionally biased, low-complexity/intrinsically disordered protein segments, typically enriched in basic (Lys/Arg), proline, glycine and serine residues. These often correspond to cytosolic-facing or solvent-exposed disordered tails/linkers, occurring at either terminus or in internal disordered stretches. | 8.04 | 3 |
| #5530 | Mitochondrial targeting presequence | N-terminal mitochondrial targeting presequence (mitochondrial transit peptide): a cleavable, amphipathic, positively charged, Ser/Thr‑rich and acid‑poor segment that directs eukaryotic proteins to the mitochondrial matrix/inner membrane via TOM/TIM; the feature primarily recognizes these presequences but can also activate on similar amphipathic, basic N-termini in a minority of non-mitochondrial proteins (e.g., axonemal), reflecting motif-level rather than organelle-specific recognition. | 8.03 | 22 |
| #9946 | Disordered N-termini and coils | Detector for intrinsically disordered, low-structure N‑terminal pre-sequences (signal peptides’ N/C regions, organellar transit peptides, and propeptides) and, more generally, flexible coil/low‑pLDDT segments; strongest bias for the first 10–70 residues but can also mark internal loops in large enzymes and short low‑complexity micropeptides. | 7.84 | 2 |
| #11504 | Initiator methionine at M1 | Initiator methionine at the very start of the polypeptide chain (M1), i.e., the translation start residue, independent of protein family, taxonomy, membrane association, or presence of signal/leader/propeptide regions; often annotated as post-translationally removed and typically situated in a flexible, coil-like N-terminus. | 7.82 | 3 |
| #8534 | N-terminal start site detector | Position-driven detector of the extreme protein N-terminus—especially residues 2–5—largely independent of amino-acid identity, typically in short, unstructured signal/leader-like segments; also fires on analogous newly formed N-termini within precursors (e.g., mature peptide starts). Common across taxa, with strong representation in viral accessory proteins, secreted precursors, and micropeptides. | 7.61 | 3 |
| #7348 | Secreted cysteine-crosslinked peptide detector | Residue-level detector for small secreted cysteine-rich bioactive peptides (lantibiotics, toxins, antimicrobial peptides) and disordered segments of secreted preproproteins; it frequently fires on or immediately adjacent to cysteines that participate in disulfide bonds or lanthionine/methyllanthionine crosslinks. | 7.51 | 4 |
| #16115 | Disordered small/polar segments | The feature activates on short small/polar-residue-rich segments embedded in disordered or low-complexity regions, primarily within small (<100 aa) proteins of diverse functional classes and within internal disordered stretches of larger proteins. The activated segments are often basic/acidic mixed, proline/glycine/serine-enriched, and lack defined secondary structure. | 7.45 | 5 |
| #12751 | Ser/Pro-biased low complexity regions | Compositionally biased regions (IDRs or short low-complexity segments) that are explicitly Ser/Pro-biased or enriched for simple dipeptide repeats (SS/PP, RS/SR, RG/RGG) and basic residues; these tracts occur in viral accessory proteins and micropeptides and as Ser/Pro-rich linkers/termini in diverse proteins. Generic hydrophobic signal peptides without such polarity/repeat bias are not targets. | 7.37 | 4 |
| #5021 | Polybasic intrinsically disordered regions | Low-complexity, often intrinsically disordered regions in short proteins, precursors, and microproteins across taxa, including viral accessory proteins, neuropeptide/hormone precursors, sperm nuclear proteins, flexible enzyme tails/inserts, and antisense-derived/uncharacterized microproteins. Activation is biased toward, but not restricted to, basic (Lys/Arg) clusters, with frequent peaks also at Pro/Ser/Gly residues in disordered context. | 7.26 | 12 |
| #14377 | Cysteine-centered motif signal | Cysteine-centered motifs (single conserved Cys or short CC/CXC/CXXC clusters), often—but not exclusively—found in oxidizing/extracellular or periplasmic contexts, used for disulfide bonding, redox catalysis, metal/Fe–S coordination, or regulatory thiol switches. The feature captures a generic “cysteine presence/cluster” signal near N-termini or in disordered loops across diverse proteins, including cytosolic and nuclear factors. | 7.15 | 2 |
| #9395 | Short terminal targeting segment | Terminal or short internal targeting/interaction segment: a short, compositionally biased or hydrophobic patch near a protein terminus, or occasionally an internal low‑complexity loop, that functions as a signal peptide or signal‑anchor (Sec/ER/thylakoid/Tat entry) when hydrophobic, or as a basic/Ser/Lys/Arg/Pro‑rich low‑complexity segment that mediates localization or partner binding in soluble proteins; typically the single prominent terminal segment of short secreted, membrane, or regulatory proteins | 6.99 | 6 |
| #7023 | Disordered histidine-basic motifs | Local His-containing basic motifs (His paired with Lys/Arg, often in HxR, KH, RH, or GH contexts), commonly within low-complexity or flexible segments, including signal peptide/propeptide regions, disordered tails, and surface-exposed loops of structured proteins | 6.75 | 3 |
| #3642 | Gly/Ala/Pro-rich disordered segments | Glycine/alanine/proline-rich low-complexity stretches, frequently within annotated disordered regions, that share a recurring small-residue context (Gly-Val/Ala-Xaa-Ala/Pro patterns). | 6.73 | 3 |
| #9998 | Weak N+3 positional cue | Absolute N-terminal positional cue centered near the fourth residue (N+3), independent of amino-acid identity; most often within signal/transit peptides of precursors but also present in non-secreted proteins; the effect is weak and often does not produce a discrete detected site. | 6.70 | 3 |
| #14646 | Short N-terminal leader segment | Short N-terminal segments within the first ~10–40 amino acids, often Lys/Arg-enriched but sometimes purely hydrophobic. These commonly correspond to Sec-type signal peptides, signal anchors, or other short N-terminal segments preceding/overlapping the first hydrophobic helix, and also include disordered N-terminal tails in soluble proteins. | 6.62 | 11 |
| #7150 | Mitochondrial transit peptide | N-terminal mitochondrial targeting presequences (transit peptides): amphipathic, basic, Ser/Thr-rich and low in acidic residues, typically 20–100 residues, intrinsically disordered yet capable of forming amphipathic helices, directing nuclear-encoded proteins to mitochondria and usually removed by mitochondrial processing peptidase after import. | 6.62 | 8 |
| #14493 | Short hydrophobic helical runs | Short hydrophobic helical segments rich in I/V/F (sometimes M), recognized in both membrane-targeting/insertion contexts (signal peptides, signal-anchors, transmembrane helices) and in hydrophobic helical patches within otherwise soluble small proteins. The feature flags contiguous aliphatic/hydrophobic runs across diverse proteins, including viral membrane/accessory proteins, secreted peptide/effector precursors, small ORFs/microproteins, and short basic/uncharacterized human proteins. | 6.59 | 2 |
| #6116 | Signal-peptide cores and IDRs | Compositionally biased low-complexity segments, especially N-terminal hydrophobic helices that form the hydrophobic core of signal peptides or membrane-anchoring amphipathic helices, and serine/threonine-rich intrinsically disordered tracts; the feature reflects sequence-composition bias rather than a specific fold or function and commonly occurs at protein termini across taxa | 6.58 | 25 |
| #7384 | Leucine-biased disordered hydrophobic segments | Leucine-biased recognition of intrinsically disordered, low-complexity hydrophobic segments, including disordered insertions within otherwise structured proteins. | 6.45 | 6 |
| #4271 | Secreted cysteine-rich peptides | Secreted/extracellular small peptides and ectodomain modules produced from precursors—feature fires on cysteine-patterned motifs (CC/CXC/Cys–Xn–Cys) and/or adjacent dibasic processing signals (KR/RR) and basic/cationic patches; typical of chemokines, defensin-like AMPs, venom toxins, Kazal-type protease inhibitor repeats, viral envelope/fusion proteins (including virion membrane EFC components with luminal loops), bacterial secreted adhesins/toxins (including enterotoxin B subunits), and plant cysteine-rich signaling peptides, as well as certain cysteine-poor AMP/neuropeptide precursors. | 6.38 | 6 |
| #516 | N-terminus-biased methionine detector | Methionine residue identity, with a strong bias toward the N‑terminal initiator Met and early hydrophobic N‑terminal segments; generally fires on Met in diverse structural/functional contexts and is largely structure-agnostic. | 6.32 | 3 |
| #14000 | IDR and signal peptide detector | Generic detector of low-complexity/intrinsically disordered segments and short hydrophobic N‑terminal stretches (signal peptides/first TM anchors), with preference for S/T/P/G/A/N- and N/Q‑rich tracts; largely avoids well‑ordered helical cores | 6.24 | 9 |
| #131 | N-terminal chloroplast transit peptide | N-terminal chloroplast transit peptides (cTPs) of nuclear-encoded plastid proteins: Ser/Thr/Ala/Pro-rich, basic and acid-poor, low-complexity, intrinsically disordered segments that often begin with a short amphipathic helix; these precursor presequences target diverse chloroplast proteins (stromal, thylakoid membrane/lumen, and import machinery components) and are cleaved at the start of the mature chain. | 6.20 | 6 |
Shared features by |Δ| activation — 1861 total (prevalence ≥ 2)
| Feature | Label | Description | Δ activation | Iso act. | Canon act. | Iso prev. | Canon prev. |
|---|---|---|---|---|---|---|---|
| #3503 | Cationic/hydrophobic low-complexity segments | Compositionally biased and low-complexity segments enriched in hydrophobic (L/V/I/A), basic (K/R), and Ser/Thr/Pro residues (with underrepresented Trp). The feature marks both cationic Ser/Thr/Pro-enriched segments and hydrophobic leader-like stretches, capturing N-terminal targeting peptides, micropeptides, and internal polybasic/low-complexity motifs in diverse proteins. | -6.80 | 1.52 | 8.32 | 3 | 13 |
| #6484 | Prion-like low-complexity IDRs | Polar low-complexity intrinsically disordered regions (IDRs)—especially Q/N-rich (prion-like) segments and S/T- and glycine-rich tracts with simple SG/TG/PG repeats—typically located in inter-domain linkers and terminal tails of eukaryotic proteins and often harboring Ser/Thr phosphorylation sites. | -6.62 | 2.13 | 8.75 | 5 | 34 |
| #6125 | Disordered PTM/cleavage SLiMs | Short linear motifs in intrinsically disordered/low-complexity regions, often S/T/P/G- and aromatic-rich, that include proteolytic-processing/PTM hotspots and flexible linkers adjacent to transmembrane segments; the feature favors flexible coils or short amphipathic helices and systematically avoids hydrophobic transmembrane cores | -6.60 | 1.95 | 8.55 | 6 | 11 |
| #7583 | Short disordered low-complexity segments | Short, intrinsically disordered low-complexity segments—including propeptide regions and other disordered stretches—with a bias toward small (Gly/Pro/Ser/Ala/Asn) and basic (Lys/Arg) residues | -6.56 | 2.36 | 8.92 | 3 | 11 |
| #3604 | Acidic Pro/Ser-rich disordered regions | Proline/serine-rich low-complexity and disordered regions, frequently with acidic/PEST-like character; the feature also fires on small proteins and on internal stretches outside obvious low-complexity tracts when local Pro/Arg/Ser content is high. | -6.45 | 1.85 | 8.30 | 3 | 15 |
| #4740 | Disordered loops and linkers | Low-complexity / flexible regions enriched in polar (Ser/Thr/Asn/Gln), basic (Lys/Arg), and Gly/Pro residues, including disordered linkers, propeptides, surface loops, and flexible segments of membrane and globular proteins across taxa (including viral proteins, small secreted peptide precursors, and membrane-protein cytosolic loops) | -6.18 | 1.25 | 7.43 | 6 | 9 |
| #13051 | Disordered TF regulatory flanks | Short, low‑complexity intrinsically disordered segments (S/Q/P/G/K‑rich) that often correspond to transcriptional regulatory interaction regions flanking or linking DNA‑binding domains in many (but not all) transcription factor families; primarily outside the structured DNA‑binding fold, occasionally extending to nearby residues within the fold; presence and strength are not universal across family members. | -5.78 | 3.10 | 8.88 | 5 | 7 |
| #6405 | Histidine residue detector | Histidine (H) residue identity feature: detects the presence of histidine side chains across proteins regardless of fold, domain, or function, with a mild bias toward disordered/low‑complexity His‑rich segments and conserved His‑containing motifs (e.g., DHHC). | -5.39 | 4.40 | 9.79 | 11 | 13 |
| #3398 | Ser/Pro-rich disordered tails | Serine/proline–rich low-complexity intrinsically disordered segments, especially terminal tails, linkers, and N‑terminal signal-peptide regions of small or secreted proteins; structured catalytic cores are largely ignored. | -5.30 | 1.61 | 6.91 | 7 | 10 |
| #1135 | Homopolymeric low-complexity tracts | Compositionally biased, low-complexity sequence segments characterized by homopolymeric residue runs; the feature detects local stretches of repeated single amino acids regardless of chemistry (polar, basic, or hydrophobic), most often within disordered or unstructured contexts but also occasionally within folded domains where such runs occur. | -5.14 | 1.20 | 6.34 | 3 | 28 |
| #5302 | Global cysteine recognition | Generic recognition of cysteine residues (thiol side chains), largely independent of position, fold, or domain, sometimes including metal‑ligating/catalytic cysteines but not restricted to them. | -5.02 | 4.95 | 9.97 | 2 | 4 |
| #12009 | Hydrophobic and leader-like segments | Hydrophobic and/or small/turn-forming sequence segments, including but not limited to classical targeting leaders (signal peptides, signal-anchor TMs, mitochondrial/chloroplast transit peptides). The feature is compositional and responds to short hydrophobic patches, propeptides, low-complexity/Pro/Ser/Thr-rich segments, and amphipathic/disordered stretches that may occur anywhere in the sequence, though early/leader regions are common. | -4.95 | 1.35 | 6.30 | 3 | 12 |
| #15329 | Terminal intrinsically disordered regions | Intrinsic structural disorder: long, unannotated terminal extensions and other extended segments outside annotated catalytic/structured domains (typically coil, low pLDDT), with low activation in well-folded domain cores | -4.91 | 2.15 | 7.06 | 20 | 51 |
| #16019 | N-terminal transit peptide detector | Detects N-terminal regions of proteins, often overlapping targeting/transit peptide leaders and the immediately following residues, with activation extending into the first ~30-70 residues of mature chains. | -4.85 | 2.16 | 7.02 | 2 | 30 |
| #6803 | Transcription factor activation motifs | Short linear interaction motif–like sites in intrinsically disordered regions of transcription factors, often corresponding to activation/cofactor-binding segments (e.g., the Hox Antp-type hexapeptide/YPWM-containing region), with occasional weaker hits in structured DNA-binding domains | -4.70 | 4.73 | 9.44 | 4 | 7 |
| #7760 | Diffuse activation in small proteins | Small proteins and microproteins (typically under ~150 residues), including viral accessory/structural proteins, small transmembrane proteins, secreted peptide precursors, and miscellaneous short eukaryotic ORFs, with activation distributed broadly along the chain. | -4.70 | 2.26 | 6.96 | 7 | 13 |
| #6176 | Sparse activation in small proteins | Sparse, low-amplitude activation distributed across small or short proteins, with no strict residue preference and peaks landing in a variety of structural contexts. | -4.66 | 3.02 | 7.68 | 6 | 7 |
| #6579 | Tyrosine detector with zinc-finger bias | Sequence-level detector for tyrosine residue identity (aromatic Tyr recognition), largely context-independent but with frequent emphasis on tyrosines positioned near Cys/His in C2H2-type zinc-finger motifs; weak cross-reactivity to other aromatics (Phe/Trp) and occasional neighboring acidic/amide residues. | -4.66 | 6.83 | 11.49 | 12 | 14 |
| #9386 | Disordered polar TF tails | Enriched—but not universal—in intrinsically disordered, low-complexity, polar-rich regulatory segments (typically N- or C-terminal tails) of eukaryotic transcription factors; folded DNA-binding domains are largely inactive. | -4.53 | 2.93 | 7.46 | 4 | 10 |
| #5474 | Disordered Arg–Pro motifs | Detector enriched on basic/polar residues near Proline in flexible or disordered protein segments, with frequent firing on Arg and Pro within Arg-Pro (R-P, RRP) motifs and on residues preceding Pro (e.g., S/T-P) inside low-complexity or disordered stretches. Also fires sporadically in non-disordered regions on similar local sequence contexts. | -4.48 | 2.44 | 6.93 | 14 | 24 |
| #1939 | Disordered TF linker MoRFs | Residues in intrinsically disordered, low‑complexity segments of regulatory proteins (especially transcription factors), often within short helix‑prone MoRF‑like stretches and enriched for S/P/G/A (with mixed polar/charged context), sometimes adjacent to aromatic “anchor” residues (e.g., the residue immediately N‑terminal to W in XW motifs). The signal largely favors disordered linkers/tails flanking DNA‑binding domains but can register isolated sites within the structured cores. | -4.47 | 3.49 | 7.96 | 4 | 7 |
| #10931 | Polar/proline-rich IDR tails | Compositionally biased, low-complexity segments enriched in polar/proline residues (Q/N/H/P with frequent S/G), typically in intrinsically disordered regions and often in C-terminal tails of transcription factors and other proteins | -4.44 | 1.53 | 5.98 | 3 | 6 |
| #10470 | Intrinsically disordered regulatory regions | Intrinsic disorder/low‑complexity segments enriched in polar/charged and small flexible residues, typically found in N-/C‑terminal tails and inter‑domain linkers of regulatory proteins—especially transcription factors—rather than in their structured DNA/ligand‑binding cores | -4.42 | 3.46 | 7.88 | 2 | 5 |
| #13897 | Proline-rich IDR detector | Detector of proline residues, with strongest signal in proline-rich, intrinsically disordered, low-complexity segments (often at termini, propeptides, and surface-exposed regions). The feature also activates on more isolated prolines in compact protein contexts, including within transmembrane helices, though typically at lower intensity than in extended Pro-rich disorder. | -4.28 | 3.02 | 7.30 | 16 | 19 |
| #897 | Small-residue-rich peptide IDRs | Intrinsic-disorder/low-complexity peptide segments enriched for small residues (notably glycine/proline/alanine/serine with scattered basic residues), commonly found in small bioactive peptide precursors (hormones, antimicrobial/toxin peptides) and regulatory microproteins; the feature marks flexible propeptide or mature-peptide regions and sparsely tags similar IDRs in larger proteins across taxa. | -3.64 | 1.29 | 4.93 | 3 | 8 |
| #3004 | Low-complexity small polar detector | Residue-level marker producing sparse, low-amplitude activations distributed across diverse proteins, with a tendency to fire within disordered or compositionally biased segments enriched for small/polar residues (Gly/Pro/Ser/Thr/Ala) but also occurring in structured regions; broadly taxonomic and not tied to a specific fold or function | -3.56 | 2.04 | 5.60 | 4 | 7 |
| #3660 | Low-complexity basic IDRs and micro-TMs | Generic low-complexity segments that are intrinsically disordered, proline‑rich and/or Lys/Arg‑biased (often also enriched in Ser/Thr) with intermittent hydrophobic residues, together with short hydrophobic helices in small membrane proteins; these include propeptide/processing regions of secreted precursors, basic disordered segments in viral proteins, mucin‑like S/T‑rich patches in glycoproteins, surface loops in enzymes, and single‑pass transmembrane microproteins (e.g., organellar gene products) rather than a specific folded domain. | -3.54 | 1.75 | 5.29 | 4 | 12 |
| #14534 | Unknown generic feature | Unknown generic feature | -13.17 | 15.86 | 29.03 | 372 | 401 |
| #9005 | Unknown generic feature | Unknown generic feature | -9.06 | 14.19 | 23.25 | 323 | 346 |
| #1803 | Unknown generic feature | Unknown generic feature | -5.44 | 18.97 | 24.41 | 377 | 407 |
Part 2 · Differential coordinates
Features firing on just the canonical-lost (truncated) residues.
Unique-region features — 297 distinct (prevalence ≥ 2)
| Feature | Label | Description | Activation | Prevalence |
|---|---|---|---|---|
| #6579 | Tyrosine detector with zinc-finger bias | Sequence-level detector for tyrosine residue identity (aromatic Tyr recognition), largely context-independent but with frequent emphasis on tyrosines positioned near Cys/His in C2H2-type zinc-finger motifs; weak cross-reactivity to other aromatics (Phe/Trp) and occasional neighboring acidic/amide residues. | 11.49 | 2 |
| #189 | Tryptophan residue detector | A residue-identity detector for tryptophan (W) side chains, with minor cross-activation on other aromatics (Y/F) and small hydrophobics, largely independent of position, domain, structure, or taxonomy; frequently encountered in secreted/viral and disordered contexts but not restricted to them. | 11.20 | 2 |
| #8545 | N-terminus accessibility sensor | Detector of accessible peptide chain termini—primarily the extreme N-terminus (initiator methionine and immediate neighbors) in flexible, unstructured tails; position-specific rather than residue-specific—with occasional weak recognition of the C-terminus; common but not universal. | 11.11 | 2 |
| #12227 | Tryptophan residue detector | Residue-level detector for tryptophan (W) side chains, often firing on multiple W positions within a sequence and with a mild bias toward N‑terminal Ws; broadly applicable across taxa and protein classes, with frequent occurrences in short membrane/secreted proteins but also in diverse enzymes (e.g., ATP synthase ε, proteases) and mitochondrial proteins. | 10.97 | 2 |
| #1155 | Nucleotidyltransferase catalytic core | Catalytic cores of the polymerase beta–like nucleotidyltransferase superfamily and closely associated nucleotide add/remove modules, centered on the two‑metal, NTP‑binding active site and its surrounding beta‑sheet/helix scaffold; the feature primarily marks template‑independent RNA/DNA nucleotidyltransferases (e.g., CCA‑adding enzymes, poly(A) polymerases, terminal uridylyltransferases) and related UTase/HD hydrolase pairs, with only weak, incidental activation on generic well‑ordered helices in unrelated proteins. | 10.73 | 18 |
| #9852 | N-terminus activation; hydrophobic helices secondary | Extreme N-terminal regions of proteins, starting at the initiator methionine and extending over a short stretch, with occasional secondary activation at internal hydrophobic/amphipathic helices. | 10.00 | 29 |
| #5302 | Global cysteine recognition | Generic recognition of cysteine residues (thiol side chains), largely independent of position, fold, or domain, sometimes including metal‑ligating/catalytic cysteines but not restricted to them. | 9.97 | 2 |
| #6405 | Histidine residue detector | Histidine (H) residue identity feature: detects the presence of histidine side chains across proteins regardless of fold, domain, or function, with a mild bias toward disordered/low‑complexity His‑rich segments and conserved His‑containing motifs (e.g., DHHC). | 9.79 | 2 |
| #6803 | Transcription factor activation motifs | Short linear interaction motif–like sites in intrinsically disordered regions of transcription factors, often corresponding to activation/cofactor-binding segments (e.g., the Hox Antp-type hexapeptide/YPWM-containing region), with occasional weaker hits in structured DNA-binding domains | 9.44 | 3 |
| #7903 | Arginine-rich polybasic patches | Basic polycationic patches enriched in arginine (often with lysine) within low-complexity/disordered regions, frequently N-terminal. These include classical monopartite NLSs, nucleic acid–binding basic tails, signal peptide n-regions and cytosolic juxtamembrane segments (positive-inside rule), and basic clusters in secreted precursors; typically depleted of acidic residues. | 9.23 | 5 |
| #4900 | Arginine-rich segments and residues | Arginine residue identity/basic-tract feature: primarily marks arginine (R) residues—and dense arginine-rich, low-complexity segments—independent of protein family, fold, or function; shows a strong bias for R over other residues (occasional weak lysine signal), appearing both in disordered/repetitive regions and on individual R within structured domains or near transmembrane boundaries. | 9.00 | 5 |
| #7583 | Short disordered low-complexity segments | Short, intrinsically disordered low-complexity segments—including propeptide regions and other disordered stretches—with a bias toward small (Gly/Pro/Ser/Ala/Asn) and basic (Lys/Arg) residues | 8.92 | 7 |
| #13051 | Disordered TF regulatory flanks | Short, low‑complexity intrinsically disordered segments (S/Q/P/G/K‑rich) that often correspond to transcriptional regulatory interaction regions flanking or linking DNA‑binding domains in many (but not all) transcription factor families; primarily outside the structured DNA‑binding fold, occasionally extending to nearby residues within the fold; presence and strength are not universal across family members. | 8.88 | 2 |
| #6484 | Prion-like low-complexity IDRs | Polar low-complexity intrinsically disordered regions (IDRs)—especially Q/N-rich (prion-like) segments and S/T- and glycine-rich tracts with simple SG/TG/PG repeats—typically located in inter-domain linkers and terminal tails of eukaryotic proteins and often harboring Ser/Thr phosphorylation sites. | 8.75 | 29 |
| #6125 | Disordered PTM/cleavage SLiMs | Short linear motifs in intrinsically disordered/low-complexity regions, often S/T/P/G- and aromatic-rich, that include proteolytic-processing/PTM hotspots and flexible linkers adjacent to transmembrane segments; the feature favors flexible coils or short amphipathic helices and systematically avoids hydrophobic transmembrane cores | 8.55 | 5 |
| #16243 | Structured-region leucine detector | Generic detector of leucine side chains in structured regions of folded domains, with occasional weaker responses to other hydrophobics; largely indifferent to specific functional motifs or protein class. | 8.46 | 6 |
| #3503 | Cationic/hydrophobic low-complexity segments | Compositionally biased and low-complexity segments enriched in hydrophobic (L/V/I/A), basic (K/R), and Ser/Thr/Pro residues (with underrepresented Trp). The feature marks both cationic Ser/Thr/Pro-enriched segments and hydrophobic leader-like stretches, capturing N-terminal targeting peptides, micropeptides, and internal polybasic/low-complexity motifs in diverse proteins. | 8.32 | 8 |
| #3604 | Acidic Pro/Ser-rich disordered regions | Proline/serine-rich low-complexity and disordered regions, frequently with acidic/PEST-like character; the feature also fires on small proteins and on internal stretches outside obvious low-complexity tracts when local Pro/Arg/Ser content is high. | 8.30 | 9 |
| #9234 | Charged low-complexity disordered regions | Intrinsically disordered, low-complexity segments enriched for Lys and acidic residues (E/D), plus N/Q, that include both polyampholyte and basic-residue tracts; typically flexible terminal tails and linker regions in diverse eukaryotic and viral proteins, including many small/secreted proteins and membrane-protein loops | 8.16 | 2 |
| #6849 | Ser/Thr-rich disordered segments | Low-complexity and disordered segments, typically enriched in Ser/Thr and often Lys/Arg, including N-terminal signal/transit-like leaders and downstream propeptides, as well as internal disordered linkers, inserts, and basic/disordered tails of soluble proteins. | 8.05 | 27 |
| #677 | Basic low-complexity disordered regions | Compositionally biased, low-complexity/intrinsically disordered protein segments, typically enriched in basic (Lys/Arg), proline, glycine and serine residues. These often correspond to cytosolic-facing or solvent-exposed disordered tails/linkers, occurring at either terminus or in internal disordered stretches. | 8.04 | 2 |
| #5530 | Mitochondrial targeting presequence | N-terminal mitochondrial targeting presequence (mitochondrial transit peptide): a cleavable, amphipathic, positively charged, Ser/Thr‑rich and acid‑poor segment that directs eukaryotic proteins to the mitochondrial matrix/inner membrane via TOM/TIM; the feature primarily recognizes these presequences but can also activate on similar amphipathic, basic N-termini in a minority of non-mitochondrial proteins (e.g., axonemal), reflecting motif-level rather than organelle-specific recognition. | 8.03 | 22 |
| #2807 | Glutamine residue identity detector | Residue-identity detector for glutamine (Q), largely context-independent across structure, function, and taxonomy; it fires on most/all Q residues, with occasional weak spillover to chemically related positions noted globally but not in the exemplars | 8.01 | 2 |
| #1939 | Disordered TF linker MoRFs | Residues in intrinsically disordered, low‑complexity segments of regulatory proteins (especially transcription factors), often within short helix‑prone MoRF‑like stretches and enriched for S/P/G/A (with mixed polar/charged context), sometimes adjacent to aromatic “anchor” residues (e.g., the residue immediately N‑terminal to W in XW motifs). The signal largely favors disordered linkers/tails flanking DNA‑binding domains but can register isolated sites within the structured cores. | 7.96 | 3 |
| #14534 | Unknown generic feature | Unknown generic feature | 29.03 | 29 |
| #1803 | Unknown generic feature | Unknown generic feature | 24.41 | 29 |
| #9005 | Unknown generic feature | Unknown generic feature | 23.25 | 29 |
| #14895 | Unknown generic feature | Unknown generic feature | 18.25 | 29 |
| #9194 | Unknown generic feature | Unknown generic feature | 15.79 | 28 |
| #9214 | Unknown generic feature | Unknown generic feature | 15.32 | 28 |
Top-K sparse-autoencoder activations on the ESM-C residual stream. Activation is a feature's peak value over its region; Prevalence is the number of residues it fires on; Δ activation is isoform − canonical. Only the top 30 features per category are saved; generic / "unknown" features are hidden until you expand a table. Read more about SAE features →
Clinical variants
Differential region — lost N-terminus (canonical-only)
| Pos (iso) | AA change | Consequence | Source | Clin. sig. | AF (gnomAD) | Impact | AlphaMissense | ESM-C ΔLLR | Link |
|---|---|---|---|---|---|---|---|---|---|
| — | M→V | intronic | gnomAD | — | 2.06e-06 | — | — | -7.21 | chr3-3129041-A-G |
| — | L→L | intronic | gnomAD | — | 3.44e-06 | — | — | 0.00 | chr3-3129044-C-T |
| — | — | intronic | gnomAD | — | 6.87e-07 | damaging | — | — | chr3-3129045-T-TGA |
| — | L→L | intronic | gnomAD | — | 6.87e-07 | — | — | 0.00 | chr3-3129046-G-C |
| — | R→R | intronic | gnomAD | — | 6.87e-07 | — | — | 0.00 | chr3-3129047-A-C |
| — | R→W | intronic | gnomAD | — | 6.87e-07 | — | likely_benign (0.20) | -2.85 | chr3-3129047-A-T |
| — | R→T | intronic | gnomAD | — | 6.87e-07 | — | likely_benign (0.17) | -1.21 | chr3-3129048-G-C |
| — | R→S | intronic | gnomAD | — | 6.86e-07 | — | likely_benign (0.21) | -0.36 | chr3-3129049-G-T |
| — | C→Y | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -1.02 | chr3-3129051-G-A |
| — | C→F | intronic | gnomAD | — | 6.86e-07 | — | likely_benign (0.07) | -0.45 | chr3-3129051-G-T |
| — | C→C | intronic | gnomAD | — | 6.86e-07 | — | — | 0.00 | chr3-3129052-C-T |
| — | L→V | intronic | gnomAD | — | 6.86e-07 | — | likely_benign (0.07) | -0.41 | chr3-3129053-C-G |
| — | L→L | intronic | gnomAD | — | 6.86e-07 | — | — | 0.00 | chr3-3129053-C-T |
| — | L→Q | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -2.97 | chr3-3129054-T-A |
| — | Y→C | intronic | gnomAD | — | 6.17e-06 | — | likely_benign (0.06) | 0.81 | chr3-3129057-A-G |
| — | H→D | intronic | gnomAD | — | 6.85e-07 | — | likely_benign (0.08) | -1.91 | chr3-3129059-C-G |
| — | H→Y | intronic | gnomAD | — | 2.06e-06 | — | likely_benign (0.07) | -0.39 | chr3-3129059-C-T |
| — | H→L | intronic | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | 1.16 | chr3-3129060-A-T |
| — | W→* | intronic | gnomAD | — | 6.85e-07 | damaging | — | — | chr3-3129063-G-A |
| — | W→C | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.16) | 1.33 | chr3-3129064-G-T |
| — | H→R | intronic | gnomAD | — | 6.85e-07 | — | likely_benign (0.05) | 0.72 | chr3-3129066-A-G |
| — | H→H | intronic | gnomAD | — | 1.16e-05 | — | — | 0.00 | chr3-3129067-C-T |
| — | — | intronic | gnomAD | — | 6.85e-07 | — | — | — | chr3-3129067-CAGGCCAGTGCTGAACCGT-C |
| — | R→G | intronic | gnomAD | — | 3.43e-06 | — | likely_benign (0.09) | -1.06 | chr3-3129068-A-G |
| — | R→W | intronic | gnomAD | — | 6.85e-07 | — | likely_benign (0.14) | -1.80 | chr3-3129068-A-T |
| — | R→S | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.17) | -0.16 | chr3-3129070-G-T |
| — | P→A | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -0.52 | chr3-3129071-C-G |
| — | — | intronic | gnomAD | — | 6.16e-05 | damaging | — | — | chr3-3129072-CAGTGCTGAACCGTA-C |
| — | V→M | intronic | gnomAD | — | 2.74e-06 | — | likely_benign (0.13) | -2.40 | chr3-3129074-G-A |
| — | L→P | intronic | gnomAD | — | 1.03e-05 | — | likely_benign (0.07) | -2.41 | chr3-3129078-T-C |
| — | N→N | intronic | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3129082-C-T |
| — | R→G | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -0.23 | chr3-3129083-C-G |
| — | R→C | intronic | gnomAD | — | 7.46e-05 | — | likely_benign (0.11) | -0.34 | chr3-3129083-C-T |
| — | R→H | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -0.47 | chr3-3129084-G-A |
| — | R→R | intronic | gnomAD | — | 1.16e-05 | — | — | 0.00 | chr3-3129085-T-C |
| — | R→T | intronic | gnomAD | — | 2.74e-06 | — | likely_benign (0.11) | 0.64 | chr3-3129087-G-C |
| — | R→S | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | 1.09 | chr3-3129088-G-T |
| — | W→* | intronic | gnomAD | — | 6.84e-07 | damaging | — | — | chr3-3129090-G-A |
| — | W→* | intronic | gnomAD | — | 6.84e-07 | damaging | — | — | chr3-3129091-G-A |
| — | W→C | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | 1.11 | chr3-3129091-G-T |
| — | S→N | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -0.70 | chr3-3129093-G-A |
| — | S→S | intronic | gnomAD | — | 2.12e-05 | — | — | 0.00 | chr3-3129094-T-C |
| — | S→R | intronic | gnomAD | — | 3.42e-06 | — | likely_benign (0.12) | -0.53 | chr3-3129094-T-G |
| — | L→M | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -2.88 | chr3-3129098-C-A |
| — | L→P | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.07) | -1.24 | chr3-3129099-T-C |
| — | L→L | intronic | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129100-G-T |
| — | C→F | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.06) | 0.41 | chr3-3129102-G-T |
| — | C→W | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -1.05 | chr3-3129103-C-G |
| — | C→C | intronic | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3129103-C-T |
| — | L→I | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -0.41 | chr3-3129104-C-A |
| — | L→R | intronic | gnomAD | — | 3.42e-06 | — | likely_benign (0.07) | -1.62 | chr3-3129105-T-G |
| — | — | intronic | gnomAD | — | 5.88e-05 | damaging | — | — | chr3-3129107-C-CTGAAG |
| — | P→A | intronic | gnomAD | — | 3.43e-04 | — | likely_benign (0.08) | -0.80 | chr3-3129107-C-G |
| — | P→L | intronic | gnomAD | — | 9.90e-01 | — | likely_benign (0.10) | -0.59 | chr3-3129108-C-T |
| — | K→Q | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | 0.12 | chr3-3129110-A-C |
| — | K→K | intronic | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129112-G-A |
| — | Q→P | intronic | gnomAD | — | 2.74e-06 | — | likely_benign (0.06) | -1.41 | chr3-3129114-A-C |
| — | Q→H | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -0.88 | chr3-3129115-G-C |
| — | Q→H | intronic | gnomAD | — | 2.74e-06 | — | likely_benign (0.11) | -0.88 | chr3-3129115-G-T |
| — | Y→C | intronic | gnomAD | — | 3.42e-06 | — | likely_benign (0.07) | 0.75 | chr3-3129117-A-G |
| — | Y→F | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -0.11 | chr3-3129117-A-T |
| — | Y→Y | intronic | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129118-T-C |
| — | L→V | intronic | gnomAD | — | 1.37e-06 | — | likely_benign (0.09) | -0.92 | chr3-3129119-C-G |
| — | L→L | intronic | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3129119-C-T |
| — | L→P | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -2.47 | chr3-3129120-T-C |
| — | F→L | intronic | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.61) | 0.88 | chr3-3129122-T-C |
| — | F→L | intronic | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.61) | 0.88 | chr3-3129124-C-G |
| — | F→F | intronic | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129124-C-T |
| — | T→K | intronic | gnomAD | — | 6.84e-07 | — | likely_benign (0.17) | -3.44 | chr3-3129126-C-A |
| — | T→T | intronic | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3129127-A-G |
| — | P→L | intronic | ClinVar | Benign | — | — | likely_benign (0.10) | -0.59 | ClinVar:403570 |
| — | P→P | intronic | ClinVar | Benign | — | — | — | 0.00 | ClinVar:475269 |
| — | H→H | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:511192 |
| — | P→A | intronic | ClinVar | Benign | — | — | likely_benign (0.08) | -0.80 | ClinVar:506590 |
| — | — | intronic | ClinVar | Benign | — | — | — | — | ClinVar:772448 |
| — | L→P | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.24 | ClinVar:1020210 |
| — | Q→P | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -1.41 | ClinVar:1021371 |
| — | R→C | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -0.34 | ClinVar:1045778 |
| — | L→R | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.62 | ClinVar:1036569 |
| — | — | intronic | ClinVar | Pathogenic | — | damaging | — | — | ClinVar:1068618 |
| — | Q→* | intronic | ClinVar | Pathogenic | — | damaging | — | — | ClinVar:1068812 |
| — | R→R | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1095776 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1095212 |
| — | C→C | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1082383 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1154995 |
| — | M→V | intronic | ClinVar | Uncertain significance | — | — | — | -7.21 | ClinVar:1378892 |
| — | P→A | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.52 | ClinVar:1422232 |
| — | Q→H | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -0.88 | ClinVar:1348519 |
| — | L→F | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -0.71 | ClinVar:1375131 |
| — | L→P | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -2.41 | ClinVar:1379375 |
| — | V→V | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1612189 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1634524 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2147154 |
| — | L→V | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -0.92 | ClinVar:2166343 |
| — | Q→R | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | 1.79 | ClinVar:1968252 |
| — | P→S | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -0.03 | ClinVar:2001044 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2001045 |
| — | S→S | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2074925 |
| — | — | intronic | ClinVar | Likely benign | — | — | — | — | ClinVar:2109788 |
| — | C→C | intronic | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:2116264 |
| — | Q→K | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | 0.52 | ClinVar:2129809 |
| — | H→Q | intronic | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | 0.42 | ClinVar:2301991 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2989720 |
| — | — | intronic | ClinVar | Pathogenic | — | damaging | — | — | ClinVar:3017738 |
| — | R→R | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3641929 |
| — | R→S | intronic | ClinVar | Likely benign | — | — | likely_benign (0.14) | 1.09 | ClinVar:3810900 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4716822 |
| — | L→L | intronic | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4774435 |
| — | P→L | intronic | COSMIC | — | — | — | likely_benign (0.10) | -0.59 | COSV107243524 |
| — | C→C | intronic | COSMIC | — | — | — | — | 0.00 | COSV52407369 |
| — | Y→C | intronic | COSMIC | — | — | — | likely_benign (0.06) | 0.81 | COSV52409307 |
| — | H→Q | intronic | COSMIC | — | — | — | likely_benign (0.08) | 0.42 | COSV99285649 |
| — | P→R | intronic | COSMIC | — | — | — | likely_benign (0.07) | -1.41 | COSV52409335 |
| — | W→* | intronic | COSMIC | — | — | damaging | — | — | COSV52407431 |
| — | L→F | intronic | COSMIC | — | — | — | likely_benign (0.06) | -0.71 | COSV52408820 |
| — | L→I | intronic | COSMIC | — | — | — | likely_benign (0.10) | -0.84 | COSV99285605 |
| — | L→L | intronic | COSMIC | — | — | — | — | 0.00 | COSV52409391 |
117 variants in the differential region.
Shared canonical core — sequence common to canonical and isoform; AlphaMissense applies here
| Pos (iso) | AA change | Consequence | Source | Clin. sig. | AF (gnomAD) | Impact | AlphaMissense | ESM-C ΔLLR | Link |
|---|---|---|---|---|---|---|---|---|---|
| 0 | M→V | missense_variant | gnomAD | — | 2.87e-05 | — | likely_benign (0.13) | -7.37 | chr3-3129128-A-G |
| 0 | M→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.72) | -7.65 | chr3-3129130-G-T |
| 0 | M→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -7.37 | ClinVar:851985 |
| 0 | M→I | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.72) | -7.65 | COSV99285824 |
| 1 | K→K | synonymous_variant | gnomAD | — | 1.71e-05 | — | — | 0.00 | chr3-3129133-G-A |
| 1 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1566525 |
| 3 | Q→* | stop_gained | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3129137-C-T |
| 3 | Q→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -4.03 | chr3-3129138-A-T |
| 3 | Q→Q | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129139-G-A |
| 3 | Q→H | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -1.16 | chr3-3129139-G-C |
| 3 | Q→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -4.03 | ClinVar:4191547 |
| 4 | S→Y | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.22) | -6.44 | chr3-3129141-C-A |
| 4 | S→C | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -3.91 | chr3-3129141-C-G |
| 4 | S→F | missense_variant | COSMIC | — | — | — | ambiguous (0.34) | -5.97 | COSV52408097 |
| 5 | P→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -1.30 | chr3-3129143-C-A |
| 5 | P→S | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.09) | 0.33 | chr3-3129143-C-T |
| 5 | P→R | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | -3.84 | chr3-3129144-C-G |
| 5 | P→P | synonymous_variant | gnomAD | — | 1.58e-04 | — | — | 0.00 | chr3-3129145-C-T |
| 5 | P→P | synonymous_variant | ClinVar | Benign/Likely benign | — | — | — | 0.00 | ClinVar:383920 |
| 5 | P→P | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV105853719 |
| 6 | E→K | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.20) | -6.29 | chr3-3129146-G-A |
| 6 | E→* | stop_gained | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3129146-G-T |
| 6 | E→A | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | -4.79 | chr3-3129147-A-C |
| 6 | E→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.20) | -5.63 | chr3-3129147-A-G |
| 6 | E→V | missense_variant | gnomAD | — | 2.00e-04 | — | likely_benign (0.16) | -4.91 | chr3-3129147-A-T |
| 6 | E→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -4.91 | ClinVar:662894 |
| 6 | E→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -5.63 | ClinVar:998597 |
| 6 | E→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -6.29 | ClinVar:1352537 |
| 6 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV108764614 |
| 7 | F→L | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.94) | -5.50 | chr3-3129151-C-G |
| 8 | Q→E | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -0.88 | chr3-3129152-C-G |
| 8 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -0.88 | ClinVar:856537 |
| 8 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -1.98 | ClinVar:1439826 |
| 9 | S→T | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.09) | -2.77 | chr3-3129155-T-A |
| 9 | S→P | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.50) | -5.03 | chr3-3129155-T-C |
| 9 | S→* | stop_gained | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3129156-C-G |
| 10 | L→V | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.11) | -4.60 | chr3-3129158-C-G |
| 10 | L→F | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.34) | -6.54 | chr3-3129158-C-T |
| 10 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3129158-CTT-C |
| 10 | L→L | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3129160-T-C |
| 10 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -4.60 | ClinVar:1355860 |
| 10 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2110154 |
| 12 | T→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.70) | -8.68 | chr3-3129165-C-T |
| 12 | — | inframe_deletion | gnomAD | — | 2.39e-05 | — | — | — | chr3-3129165-CAGA-C |
| 12 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129166-A-G |
| 12 | — | inframe_deletion | ClinVar | Conflicting classifications of pathogenicity | — | — | — | — | ClinVar:234932 |
| 12 | T→T | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3661857 |
| 13 | E→* | stop_gained | gnomAD | — | 2.74e-06 | LoF | — | — | chr3-3129167-G-T |
| 13 | E→E | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129169-A-G |
| 13 | E→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3706590 |
| 14 | G→R | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.87) | -7.85 | chr3-3129170-G-A |
| 14 | G→R | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.87) | -7.85 | chr3-3129170-G-C |
| 14 | G→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3129170-G-T |
| 14 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.87) | -7.85 | ClinVar:3372369 |
| 15 | L→L | synonymous_variant | gnomAD | — | 1.23e-02 | — | — | 0.00 | chr3-3129173-C-T |
| 15 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129175-G-A |
| 15 | L→L | synonymous_variant | ClinVar | Benign | — | — | — | 0.00 | ClinVar:380598 |
| 16 | K→K | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129178-G-A |
| 17 | S→N | missense_variant | gnomAD | — | 8.89e-06 | — | likely_benign (0.09) | -1.25 | chr3-3129180-G-A |
| 17 | S→T | missense_variant | gnomAD | — | 4.10e-06 | — | likely_benign (0.08) | -0.66 | chr3-3129180-G-C |
| 17 | — | mnv | ClinVar | Uncertain significance | — | — | — | — | ClinVar:1721777 |
| 17 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3691533 |
| 18 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3129182-C-CT |
| 18 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129182-C-T |
| 18 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129184-G-A |
| 18 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3129184-G-C |
| 19 | T→A | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.07) | 0.63 | chr3-3129185-A-G |
| 19 | T→T | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3129187-A-G |
| 19 | T→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | 0.63 | ClinVar:964389 |
| 19 | T→T | synonymous_variant | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:3764277 |
| 20 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2712436 |
| 20 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV109408736 |
| 20 | E→G | missense_variant | COSMIC | — | — | — | likely_benign (0.09) | -2.34 | COSV52407247 |
| 21 | L→I | missense_variant | gnomAD | — | 4.21e-06 | — | likely_benign (0.08) | -1.94 | chr3-3137262-T-A |
| 21 | L→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -1.94 | ClinVar:2015588 |
| 22 | F→S | missense_variant | gnomAD | — | 2.10e-06 | damaging | likely_pathogenic (0.93) | -8.87 | chr3-3137266-T-C |
| 22 | F→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.93) | -8.87 | ClinVar:1010033 |
| 23 | V→I | missense_variant | gnomAD | — | 6.97e-06 | — | likely_benign (0.07) | -0.47 | chr3-3137268-G-A |
| 23 | — | frameshift_variant | gnomAD | — | 4.19e-06 | LoF | — | — | chr3-3137270-C-CAAAG |
| 23 | — | frameshift_variant | ClinVar | Likely pathogenic | — | LoF | — | — | ClinVar:3044827 |
| 23 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99285754 |
| 24 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -4.62 | ClinVar:3027538 |
| 24 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4753695 |
| 25 | E→D | missense_variant | gnomAD | — | 6.95e-07 | — | likely_benign (0.15) | -0.80 | chr3-3137276-G-C |
| 25 | E→D | missense_variant | gnomAD | — | 2.78e-06 | — | likely_benign (0.15) | -0.80 | chr3-3137276-G-T |
| 25 | E→D | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -0.80 | ClinVar:1990973 |
| 26 | N→I | missense_variant | gnomAD | — | 6.94e-07 | damaging | likely_benign (0.31) | -8.20 | chr3-3137278-A-T |
| 26 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2915075 |
| 27 | H→R | missense_variant | gnomAD | — | 1.39e-06 | — | likely_benign (0.14) | -5.74 | chr3-3137281-A-G |
| 27 | H→Q | missense_variant | gnomAD | — | 6.95e-07 | — | likely_benign (0.25) | -3.46 | chr3-3137282-C-A |
| 27 | H→H | synonymous_variant | gnomAD | — | 3.82e-05 | — | — | 0.00 | chr3-3137282-C-T |
| 27 | — | frameshift_variant | gnomAD | — | 6.95e-07 | LoF | — | — | chr3-3137282-CGAATTAA-C |
| 27 | H→H | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:715190 |
| 27 | H→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.14) | -5.74 | ClinVar:1009449 |
| 27 | H→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.25) | -3.46 | ClinVar:1439376 |
| 27 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2009367 |
| 27 | H→H | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV52410189 |
| 28 | E→K | missense_variant | gnomAD | — | 3.47e-06 | — | likely_benign (0.27) | -6.00 | chr3-3137283-G-A |
| 28 | E→A | missense_variant | gnomAD | — | 6.94e-07 | — | likely_benign (0.30) | -6.22 | chr3-3137284-A-C |
| 28 | E→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.27) | -6.00 | ClinVar:1063722 |
| 29 | L→I | missense_variant | gnomAD | — | 6.93e-07 | — | likely_benign (0.10) | -1.38 | chr3-3137286-T-A |
| 29 | L→S | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.96) | -11.32 | COSV52407392 |
| 30 | R→G | missense_variant | gnomAD | — | 6.93e-07 | damaging | likely_pathogenic (0.92) | -10.56 | chr3-3137289-A-G |
| 30 | R→I | missense_variant | gnomAD | — | 2.08e-06 | damaging | likely_pathogenic (0.91) | -11.87 | chr3-3137290-G-T |
| 30 | R→I | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.91) | -11.87 | ClinVar:1044687 |
| 30 | R→T | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.97) | -11.75 | ClinVar:1922381 |
| 30 | R→G | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.92) | -10.56 | COSV52409833 |
| 31 | I→L | missense_variant | gnomAD | — | 6.90e-07 | — | likely_benign (0.16) | -4.93 | chr3-3137292-A-C |
| 31 | — | frameshift_variant | gnomAD | — | 1.38e-06 | LoF | — | — | chr3-3137294-AG-A |
| 31 | I→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -14.18 | ClinVar:1367783 |
| 32 | A→S | missense_variant | gnomAD | — | 2.75e-05 | — | ambiguous (0.43) | -5.96 | chr3-3137295-G-T |
| 32 | A→V | missense_variant | gnomAD | — | 1.38e-06 | — | ambiguous (0.52) | -5.36 | chr3-3137296-C-T |
| 32 | A→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.81) | -9.05 | ClinVar:660765 |
| 32 | A→S | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.43) | -5.96 | ClinVar:851045 |
| 33 | G→R | missense_variant | gnomAD | — | 6.87e-07 | damaging | likely_pathogenic (0.99) | -10.94 | chr3-3137298-G-C |
| 33 | G→A | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.95) | -11.44 | chr3-3137299-G-C |
| 34 | G→R | missense_variant | gnomAD | — | 6.87e-07 | damaging | likely_pathogenic (0.98) | -10.44 | chr3-3137301-G-A |
| 34 | G→G | synonymous_variant | gnomAD | — | 6.86e-07 | — | — | 0.00 | chr3-3137303-A-G |
| 34 | G→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV99285939 |
| 35 | A→P | missense_variant | gnomAD | — | 4.80e-06 | damaging | likely_pathogenic (0.83) | -6.57 | chr3-3137304-G-C |
| 35 | A→S | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.33) | -6.07 | chr3-3137304-G-T |
| 35 | A→A | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3137306-A-G |
| 35 | A→P | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.83) | -6.57 | ClinVar:1044848 |
| 36 | V→L | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.90) | -7.75 | chr3-3137307-G-C |
| 36 | V→A | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.89) | -7.78 | chr3-3137308-T-C |
| 36 | V→V | synonymous_variant | gnomAD | — | 2.06e-06 | — | — | 0.00 | chr3-3137309-G-A |
| 36 | V→V | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1651637 |
| 36 | V→L | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.90) | -7.75 | ClinVar:4082156 |
| 36 | V→L | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.90) | -7.75 | COSV108764618 |
| 37 | R→M | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.99) | -13.37 | chr3-3137311-G-T |
| 40 | L→V | missense_variant | gnomAD | — | 6.85e-06 | — | likely_benign (0.23) | -4.52 | chr3-3137319-T-G |
| 40 | L→* | stop_gained | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3137320-T-G |
| 40 | L→F | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.65) | -6.58 | chr3-3137321-A-C |
| 40 | L→L | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3137321-A-G |
| 40 | L→F | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.65) | -6.58 | ClinVar:1000971 |
| 40 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.23) | -4.52 | ClinVar:1053449 |
| 41 | N→S | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.05) | 3.65 | chr3-3137323-A-G |
| 41 | N→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.05) | 3.65 | ClinVar:2092599 |
| 42 | G→V | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.43) | -7.45 | chr3-3137326-G-T |
| 42 | G→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -4.98 | ClinVar:569812 |
| 42 | G→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV99285890 |
| 43 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137329-T-TAA |
| 43 | — | frameshift_variant | gnomAD | — | 1.71e-05 | LoF | — | — | chr3-3137329-T-TGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA |
| 43 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137330-A-AT |
| 43 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3137330-A-G |
| 43 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:1076642 |
| 44 | K→K | synonymous_variant | gnomAD | — | 7.53e-06 | — | — | 0.00 | chr3-3137333-G-A |
| 44 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2882168 |
| 45 | P→S | missense_variant | gnomAD | — | 2.74e-06 | damaging | likely_pathogenic (0.81) | -6.84 | chr3-3137334-C-T |
| 45 | P→R | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.95) | -10.74 | chr3-3137335-C-G |
| 45 | P→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.67) | -6.68 | chr3-3137335-C-T |
| 46 | Q→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137337-C-T |
| 46 | Q→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -3.87 | chr3-3137338-A-G |
| 47 | D→G | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.92) | -9.87 | chr3-3137341-A-G |
| 47 | D→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.93) | -10.00 | chr3-3137341-A-T |
| 47 | D→D | synonymous_variant | gnomAD | — | 2.95e-04 | — | — | 0.00 | chr3-3137342-T-C |
| 47 | D→D | synonymous_variant | ClinVar | Benign/Likely benign | — | — | — | 0.00 | ClinVar:381865 |
| 47 | D→N | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.86) | -9.69 | COSV52407838 |
| 48 | I→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.05) | 1.93 | chr3-3137343-A-G |
| 48 | I→T | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.16) | -5.58 | chr3-3137344-T-C |
| 48 | I→M | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -3.52 | chr3-3137345-A-G |
| 48 | I→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -5.58 | ClinVar:542064 |
| 48 | I→M | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.14) | -3.52 | ClinVar:1367269 |
| 49 | D→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.99) | -12.50 | chr3-3137347-A-T |
| 49 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1074723 |
| 51 | A→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.87) | -7.93 | chr3-3137353-C-T |
| 51 | A→A | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99285739 |
| 52 | T→I | missense_variant | gnomAD | — | 3.42e-06 | damaging | likely_pathogenic (0.96) | -10.84 | chr3-3137356-C-T |
| 53 | T→A | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.16) | -6.60 | chr3-3137358-A-G |
| 53 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137358-AC-A |
| 53 | T→A | missense_variant | COSMIC | — | — | — | likely_benign (0.16) | -6.60 | COSV99285680 |
| 54 | A→T | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.58) | -6.46 | chr3-3137361-G-A |
| 54 | A→G | missense_variant | gnomAD | — | 4.79e-06 | damaging | ambiguous (0.51) | -7.58 | chr3-3137362-C-G |
| 54 | A→A | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3137363-T-C |
| 54 | A→G | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.51) | -7.58 | ClinVar:840669 |
| 54 | A→P | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.99) | -12.37 | ClinVar:1063955 |
| 54 | A→D | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -11.05 | COSV52408898 |
| 54 | A→V | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.62) | -7.43 | COSV52409553 |
| 55 | T→P | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.26) | -7.23 | chr3-3137364-A-C |
| 55 | T→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.18) | -6.58 | chr3-3137364-A-G |
| 55 | T→I | missense_variant | gnomAD | — | 1.37e-06 | — | ambiguous (0.42) | -5.67 | chr3-3137365-C-T |
| 55 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3137366-C-T |
| 55 | T→T | synonymous_variant | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:3027540 |
| 56 | P→S | missense_variant | gnomAD | — | 2.74e-06 | damaging | likely_pathogenic (0.91) | -8.12 | chr3-3137367-C-T |
| 57 | T→A | missense_variant | gnomAD | — | 2.16e-04 | — | likely_benign (0.06) | -1.81 | chr3-3137370-A-G |
| 57 | T→A | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | — | likely_benign (0.06) | -1.81 | ClinVar:665462 |
| 57 | T→T | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2835003 |
| 58 | Q→K | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.12) | -2.71 | chr3-3137373-C-A |
| 58 | Q→E | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.07) | -0.34 | chr3-3137373-C-G |
| 58 | Q→* | stop_gained | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3137373-C-T |
| 58 | — | frameshift_variant | gnomAD | — | 6.16e-06 | LoF | — | — | chr3-3137373-CAAAT-C |
| 58 | Q→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -4.41 | chr3-3137374-A-G |
| 58 | Q→H | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.40) | -4.85 | chr3-3137375-A-C |
| 58 | Q→Q | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3137375-A-G |
| 58 | Q→Q | synonymous_variant | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:1041772 |
| 58 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.34 | ClinVar:1445091 |
| 58 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1447899 |
| 58 | Q→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.14) | -4.41 | ClinVar:3379445 |
| 58 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.40) | -4.85 | ClinVar:3892731 |
| 58 | Q→K | missense_variant | COSMIC | — | — | — | likely_benign (0.12) | -2.71 | COSV99285879 |
| 59 | M→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.43) | -7.62 | chr3-3137376-A-G |
| 59 | M→I | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.87) | -7.00 | COSV52408491 |
| 60 | — | inframe_deletion | gnomAD | — | 6.84e-07 | — | — | — | chr3-3137379-AAGG-A |
| 60 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2846876 |
| 60 | K→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV52407209 |
| 61 | E→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.14 | chr3-3137383-A-C |
| 61 | E→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -3.77 | chr3-3137383-A-G |
| 62 | M→V | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.20) | -5.80 | chr3-3137385-A-G |
| 62 | M→T | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.60) | -7.33 | chr3-3137386-T-C |
| 62 | M→I | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.38) | -2.50 | chr3-3137387-G-A |
| 62 | M→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -5.80 | ClinVar:4191541 |
| 63 | F→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.72) | -8.99 | chr3-3137388-T-A |
| 63 | F→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.82) | -5.12 | chr3-3137390-T-G |
| 63 | F→I | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.72) | -8.99 | ClinVar:1377412 |
| 64 | Q→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -3.57 | chr3-3137391-C-A |
| 64 | Q→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137391-C-T |
| 64 | Q→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.30 | chr3-3137392-A-T |
| 64 | Q→Q | synonymous_variant | gnomAD | — | 1.09e-05 | — | — | 0.00 | chr3-3137393-G-A |
| 64 | Q→H | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -2.49 | chr3-3137393-G-C |
| 64 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.14) | -2.49 | ClinVar:1348567 |
| 64 | Q→Q | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1642575 |
| 65 | S→L | missense_variant | gnomAD | — | 1.85e-05 | — | likely_benign (0.07) | -2.09 | chr3-3137395-C-T |
| 65 | S→S | synonymous_variant | gnomAD | — | 2.26e-05 | — | — | 0.00 | chr3-3137396-G-A |
| 65 | S→S | synonymous_variant | gnomAD | — | 5.47e-06 | — | — | 0.00 | chr3-3137396-G-T |
| 65 | S→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -2.09 | ClinVar:542063 |
| 65 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1630480 |
| 65 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2057615 |
| 65 | S→W | missense_variant | COSMIC | — | — | — | likely_benign (0.20) | -5.53 | COSV108038559 |
| 65 | S→L | missense_variant | COSMIC | — | — | — | likely_benign (0.07) | -2.09 | COSV99285708 |
| 66 | A→S | missense_variant | gnomAD | — | 7.53e-06 | — | likely_benign (0.10) | -2.40 | chr3-3137397-G-T |
| 66 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1661694 |
| 67 | G→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.26) | -5.41 | chr3-3137400-G-C |
| 68 | I→S | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.87) | -11.16 | chr3-3137404-T-G |
| 68 | I→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.87) | -11.16 | ClinVar:2194104 |
| 69 | R→W | missense_variant | gnomAD | — | 3.76e-05 | damaging | ambiguous (0.50) | -9.12 | chr3-3137406-C-T |
| 69 | R→Q | missense_variant | gnomAD | — | 2.74e-06 | damaging | ambiguous (0.45) | -8.37 | chr3-3137407-G-A |
| 69 | R→R | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3137408-G-A |
| 69 | R→R | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3137408-G-T |
| 69 | R→W | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | ambiguous (0.50) | -9.12 | ClinVar:659705 |
| 69 | R→R | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1143811 |
| 69 | R→Q | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.45) | -8.37 | ClinVar:1367284 |
| 69 | R→W | missense_variant | COSMIC | — | — | damaging | ambiguous (0.50) | -9.12 | COSV52409464 |
| 70 | M→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -6.93 | ClinVar:1383133 |
| 71 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3137413-T-TA |
| 71 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3137413-T-TAA |
| 71 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3137413-TAAAC-T |
| 72 | N→S | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.16) | -7.37 | chr3-3137416-A-G |
| 72 | N→K | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.91) | -8.31 | chr3-3137417-C-G |
| 72 | N→Y | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.55) | -9.25 | ClinVar:4191540 |
| 73 | N→S | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | -2.66 | chr3-3137419-A-G |
| 73 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3137420-CAG-C |
| 74 | R→G | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.28) | -6.17 | chr3-3137421-A-G |
| 74 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3137423-A-AG |
| 74 | R→S | missense_variant | gnomAD | — | 6.85e-07 | — | ambiguous (0.55) | -3.45 | chr3-3137423-A-C |
| 75 | G→R | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.98) | -9.31 | chr3-3137424-G-C |
| 75 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -9.31 | ClinVar:4633681 |
| 75 | G→E | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -9.87 | COSV52407628 |
| 76 | E→G | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.67) | -9.94 | chr3-3137428-A-G |
| 77 | K→E | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.18) | -3.09 | chr3-3137430-A-G |
| 77 | K→R | missense_variant | gnomAD | — | 2.74e-05 | — | likely_benign (0.11) | -4.61 | chr3-3137431-A-G |
| 77 | K→K | synonymous_variant | gnomAD | — | 6.86e-07 | — | — | 0.00 | chr3-3137432-G-A |
| 77 | K→N | missense_variant | gnomAD | — | 1.37e-06 | — | ambiguous (0.40) | -6.26 | chr3-3137432-G-C |
| 77 | — | frameshift_variant | gnomAD | — | 7.54e-06 | LoF | — | — | chr3-3137432-GCACGGAA-G |
| 77 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:662903 |
| 77 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -4.61 | ClinVar:864630 |
| 78 | H→D | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.98) | -12.62 | chr3-3137433-C-G |
| 78 | H→Q | missense_variant | gnomAD | — | 2.74e-06 | damaging | likely_pathogenic (0.98) | -10.69 | chr3-3137435-C-A |
| 78 | H→Q | missense_variant | gnomAD | — | 6.86e-07 | damaging | likely_pathogenic (0.98) | -10.69 | chr3-3137435-C-G |
| 78 | H→H | synonymous_variant | gnomAD | — | 2.67e-05 | — | — | 0.00 | chr3-3137435-C-T |
| 78 | H→D | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -12.62 | ClinVar:852757 |
| 78 | H→H | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1078673 |
| 78 | H→H | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV52408865 |
| 79 | G→R | missense_variant | gnomAD | — | 3.43e-06 | damaging | likely_pathogenic (0.98) | -10.56 | chr3-3137436-G-A |
| 79 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -10.56 | ClinVar:1409611 |
| 80 | T→I | missense_variant | gnomAD | — | 6.86e-07 | damaging | likely_pathogenic (0.96) | -9.37 | chr3-3137440-C-T |
| 81 | I→V | missense_variant | gnomAD | — | 3.37e-04 | — | likely_benign (0.07) | -2.81 | chr3-3137442-A-G |
| 81 | I→F | missense_variant | gnomAD | — | 6.86e-07 | damaging | likely_pathogenic (0.80) | -10.63 | chr3-3137442-A-T |
| 81 | I→M | missense_variant | gnomAD | — | 2.06e-06 | damaging | ambiguous (0.38) | -8.19 | chr3-3137444-T-G |
| 81 | — | frameshift_variant | gnomAD | — | 6.86e-07 | LoF | — | — | chr3-3137444-T-TA |
| 81 | I→V | missense_variant | ClinVar | Benign/Likely benign | — | — | likely_benign (0.07) | -2.81 | ClinVar:772461 |
| 81 | I→V | missense_variant | COSMIC | — | — | — | likely_benign (0.07) | -2.81 | COSV105090790 |
| 82 | T→A | missense_variant | gnomAD | — | 3.45e-06 | damaging | ambiguous (0.52) | -8.44 | chr3-3137445-A-G |
| 82 | T→T | synonymous_variant | gnomAD | — | 1.38e-06 | — | — | 0.00 | chr3-3137447-T-A |
| 82 | T→T | synonymous_variant | gnomAD | — | 6.92e-07 | — | — | 0.00 | chr3-3137447-T-C |
| 82 | T→S | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.51) | -7.62 | ClinVar:2113353 |
| 82 | T→A | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.52) | -8.44 | ClinVar:4191544 |
| 82 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:4774921 |
| 83 | A→T | missense_variant | gnomAD | — | 6.92e-07 | — | likely_benign (0.27) | -5.80 | chr3-3137448-G-A |
| 83 | A→D | missense_variant | gnomAD | — | 6.92e-07 | damaging | likely_pathogenic (0.99) | -13.77 | chr3-3137449-C-A |
| 83 | A→A | synonymous_variant | gnomAD | — | 6.93e-07 | — | — | 0.00 | chr3-3137450-C-T |
| 83 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1093649 |
| 83 | A→T | missense_variant | COSMIC | — | — | — | likely_benign (0.27) | -5.80 | COSV52407225 |
| 84 | R→M | missense_variant | gnomAD | — | 6.93e-07 | damaging | likely_pathogenic (0.89) | -10.80 | chr3-3137452-G-T |
| 84 | R→S | missense_variant | gnomAD | — | 1.39e-06 | damaging | likely_pathogenic (0.97) | -7.83 | chr3-3137453-G-T |
| 85 | L→I | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.08) | -1.50 | chr3-3140510-C-A |
| 86 | H→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.23) | -2.75 | ClinVar:946345 |
| 87 | E→K | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.14) | -2.17 | chr3-3140516-G-A |
| 87 | E→V | missense_variant | gnomAD | — | 2.06e-06 | damaging | ambiguous (0.39) | -7.52 | chr3-3140517-A-T |
| 88 | E→* | stop_gained | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3140519-G-T |
| 88 | E→A | missense_variant | gnomAD | — | 1.10e-05 | damaging | likely_benign (0.23) | -7.98 | chr3-3140520-A-C |
| 88 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV105853715 |
| 88 | E→K | missense_variant | COSMIC | — | — | — | likely_benign (0.18) | -6.98 | COSV52408923 |
| 89 | N→H | missense_variant | gnomAD | — | 1.37e-06 | damaging | ambiguous (0.49) | -7.96 | chr3-3140522-A-C |
| 90 | F→V | missense_variant | gnomAD | — | 2.06e-06 | damaging | likely_pathogenic (0.65) | -10.12 | chr3-3140525-T-G |
| 90 | F→L | missense_variant | gnomAD | — | 1.37e-05 | damaging | likely_pathogenic (0.98) | -7.87 | chr3-3140527-T-A |
| 90 | F→L | missense_variant | gnomAD | — | 6.85e-07 | damaging | likely_pathogenic (0.98) | -7.87 | chr3-3140527-T-G |
| 90 | F→V | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.65) | -10.12 | ClinVar:2291719 |
| 90 | F→V | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.65) | -10.12 | COSV52407819 |
| 91 | E→K | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.95) | -10.69 | chr3-3140528-G-A |
| 91 | E→E | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3140530-G-A |
| 91 | E→K | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -10.69 | ClinVar:1345884 |
| 91 | E→K | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.95) | -10.69 | COSV105090815 |
| 92 | I→I | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140533-T-C |
| 93 | T→A | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.94) | -9.50 | chr3-3140534-A-G |
| 93 | T→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.99) | -10.87 | chr3-3140535-C-T |
| 93 | T→T | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3140536-T-C |
| 93 | T→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.89) | -9.00 | ClinVar:644652 |
| 93 | T→T | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3677630 |
| 94 | T→A | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.42) | -9.44 | chr3-3140537-A-G |
| 94 | T→K | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.98) | -11.87 | chr3-3140538-C-A |
| 94 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140539-A-C |
| 94 | T→T | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3140539-A-G |
| 94 | — | frameshift_variant | gnomAD | — | 3.42e-06 | LoF | — | — | chr3-3140539-AC-A |
| 94 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:452901 |
| 95 | L→V | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (0.89) | -8.25 | chr3-3140540-C-G |
| 95 | L→P | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.99) | -10.56 | COSV52407405 |
| 96 | R→W | missense_variant | gnomAD | — | 1.30e-05 | damaging | likely_pathogenic (0.90) | -10.94 | chr3-3140543-C-T |
| 96 | R→Q | missense_variant | gnomAD | — | 4.10e-06 | damaging | likely_pathogenic (0.95) | -10.37 | chr3-3140544-G-A |
| 96 | R→W | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.90) | -10.94 | ClinVar:970632 |
| 96 | R→L | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.96) | -11.19 | COSV105853701 |
| 97 | I→T | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.18) | -4.73 | chr3-3140547-T-C |
| 98 | D→G | missense_variant | gnomAD | — | 2.13e-04 | damaging | likely_pathogenic (0.96) | -11.87 | chr3-3140550-A-G |
| 98 | D→D | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140551-T-C |
| 98 | D→G | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | likely_pathogenic (0.96) | -11.87 | ClinVar:863968 |
| 98 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1615806 |
| 98 | D→Y | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -12.37 | ClinVar:3810902 |
| 99 | V→F | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.22) | -8.42 | chr3-3140552-G-T |
| 99 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140554-C-A |
| 99 | V→V | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3684776 |
| 100 | T→P | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.51) | -10.41 | chr3-3140555-A-C |
| 100 | T→S | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | 0.95 | chr3-3140556-C-G |
| 100 | T→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -1.17 | chr3-3140556-C-T |
| 100 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140557-C-T |
| 100 | T→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | 0.95 | ClinVar:852675 |
| 100 | T→T | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99285563 |
| 101 | T→A | missense_variant | gnomAD | — | 4.10e-06 | damaging | likely_benign (0.17) | -8.68 | chr3-3140558-A-G |
| 101 | T→S | missense_variant | gnomAD | — | 6.84e-06 | — | likely_benign (0.33) | -7.18 | chr3-3140559-C-G |
| 101 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140560-T-C |
| 101 | T→A | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_benign (0.17) | -8.68 | ClinVar:2001766 |
| 101 | T→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.33) | -7.18 | ClinVar:3974064 |
| 102 | D→N | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -6.09 | chr3-3140561-G-A |
| 102 | D→A | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.83) | -12.12 | chr3-3140562-A-C |
| 102 | D→G | missense_variant | gnomAD | — | 2.26e-05 | damaging | likely_pathogenic (0.79) | -11.56 | chr3-3140562-A-G |
| 102 | D→D | synonymous_variant | gnomAD | — | 1.50e-05 | — | — | 0.00 | chr3-3140563-T-C |
| 102 | D→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.79) | -11.56 | ClinVar:1449839 |
| 102 | D→A | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.83) | -12.12 | ClinVar:1473082 |
| 103 | G→* | stop_gained | gnomAD | — | 2.74e-06 | LoF | — | — | chr3-3140564-G-T |
| 103 | G→V | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.99) | -10.81 | ClinVar:1021489 |
| 103 | G→G | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3659490 |
| 104 | R→K | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.93) | -10.37 | chr3-3140568-G-A |
| 105 | H→D | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.98) | -12.49 | chr3-3140570-C-G |
| 105 | H→Y | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.42) | -5.92 | ClinVar:1053680 |
| 106 | A→T | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.68) | -10.12 | chr3-3140573-G-A |
| 106 | A→G | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.85) | -9.62 | chr3-3140574-C-G |
| 106 | A→A | synonymous_variant | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:3027541 |
| 107 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -6.65 | chr3-3140576-G-A |
| 107 | E→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.17) | -7.15 | chr3-3140577-A-C |
| 107 | E→E | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3140578-G-A |
| 107 | E→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.17) | -7.15 | ClinVar:1395722 |
| 108 | V→I | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.17) | -6.12 | chr3-3140579-G-A |
| 108 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140581-A-G |
| 108 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140581-A-T |
| 108 | V→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.17) | -6.12 | ClinVar:1494828 |
| 108 | V→V | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2891198 |
| 109 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -3.43 | chr3-3140582-G-A |
| 109 | E→Q | missense_variant | gnomAD | — | 7.52e-06 | — | likely_benign (0.09) | -1.31 | chr3-3140582-G-C |
| 110 | F→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.94) | -10.26 | chr3-3140585-T-A |
| 110 | F→F | synonymous_variant | gnomAD | — | 7.52e-06 | — | — | 0.00 | chr3-3140587-T-C |
| 110 | F→F | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3645332 |
| 111 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140590-A-G |
| 111 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3140590-AACTG-A |
| 111 | T→I | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.64) | -5.08 | ClinVar:1364043 |
| 111 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1443740 |
| 112 | T→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -4.58 | chr3-3140591-A-G |
| 112 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140593-T-C |
| 112 | T→T | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3140593-T-G |
| 113 | D→H | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.51) | -7.33 | chr3-3140594-G-C |
| 113 | D→V | missense_variant | gnomAD | — | 4.79e-06 | — | ambiguous (0.40) | -7.27 | chr3-3140595-A-T |
| 114 | W→G | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.98) | -10.31 | chr3-3140597-T-G |
| 114 | W→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3140598-G-A |
| 114 | W→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.96) | -9.75 | chr3-3140598-G-T |
| 114 | W→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV104572176 |
| 115 | Q→* | stop_gained | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3140600-C-T |
| 115 | Q→Q | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3140602-G-A |
| 115 | Q→Q | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1528790 |
| 115 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.28) | -4.76 | ClinVar:2181541 |
| 115 | Q→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1896137 |
| 115 | Q→P | missense_variant | COSMIC | — | — | — | ambiguous (0.46) | -7.23 | COSV52408393 |
| 116 | K→E | missense_variant | gnomAD | — | 7.52e-06 | — | likely_benign (0.14) | -6.04 | chr3-3140603-A-G |
| 116 | K→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -2.40 | chr3-3140604-A-G |
| 116 | K→N | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.43) | -6.48 | chr3-3140605-A-C |
| 116 | K→N | missense_variant | COSMIC | — | — | — | ambiguous (0.43) | -6.48 | COSV99285863 |
| 117 | D→H | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (1.00) | -12.62 | chr3-3140606-G-C |
| 117 | — | frameshift_variant | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3140608-T-TG |
| 117 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1070580 |
| 118 | A→P | missense_variant | gnomAD | — | 2.74e-06 | damaging | likely_pathogenic (1.00) | -12.18 | chr3-3140609-G-C |
| 118 | A→E | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.99) | -12.49 | chr3-3140610-C-A |
| 118 | A→G | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.59) | -7.12 | chr3-3140610-C-G |
| 118 | A→V | missense_variant | gnomAD | — | 1.09e-05 | damaging | likely_pathogenic (0.92) | -8.87 | chr3-3140610-C-T |
| 118 | A→A | synonymous_variant | gnomAD | — | 1.78e-05 | — | — | 0.00 | chr3-3140611-G-A |
| 118 | A→A | synonymous_variant | gnomAD | — | 1.55e-02 | — | — | 0.00 | chr3-3140611-G-T |
| 118 | A→A | synonymous_variant | ClinVar | Benign | — | — | — | 0.00 | ClinVar:380599 |
| 118 | A→V | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | likely_pathogenic (0.92) | -8.87 | ClinVar:691999 |
| 118 | A→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.59) | -7.12 | ClinVar:1973051 |
| 118 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2900236 |
| 119 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.16) | -7.07 | chr3-3140612-G-A |
| 119 | E→D | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.45) | -6.36 | chr3-3140614-A-C |
| 119 | E→K | missense_variant | COSMIC | — | — | — | likely_benign (0.16) | -7.07 | COSV99285757 |
| 120 | R→C | missense_variant | gnomAD | — | 1.44e-05 | damaging | likely_pathogenic (0.95) | -10.00 | chr3-3140615-C-T |
| 120 | R→H | missense_variant | gnomAD | — | 5.47e-06 | damaging | likely_pathogenic (0.96) | -10.19 | chr3-3140616-G-A |
| 120 | R→H | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.96) | -10.19 | ClinVar:493353 |
| 120 | R→C | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -10.00 | ClinVar:1356093 |
| 121 | R→G | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.98) | -10.87 | chr3-3140618-A-G |
| 122 | D→A | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (1.00) | -11.19 | chr3-3140622-A-C |
| 122 | D→V | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (1.00) | -11.44 | chr3-3140622-A-T |
| 122 | D→Y | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -10.62 | COSV52408186 |
| 122 | D→D | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV52409815 |
| 123 | L→I | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.57) | -7.28 | chr3-3140624-C-A |
| 124 | T→P | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.93) | -10.06 | chr3-3140627-A-C |
| 124 | T→S | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.67) | -5.90 | chr3-3140627-A-T |
| 124 | T→S | missense_variant | gnomAD | — | 2.05e-05 | damaging | likely_pathogenic (0.67) | -5.90 | chr3-3140628-C-G |
| 124 | T→I | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (0.99) | -8.12 | chr3-3140628-C-T |
| 124 | T→T | synonymous_variant | gnomAD | — | 2.26e-05 | — | — | 0.00 | chr3-3140629-T-G |
| 124 | T→I | missense_variant | ClinVar | Pathogenic | — | damaging | likely_pathogenic (0.99) | -8.12 | ClinVar:157617 |
| 124 | T→T | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1116078 |
| 124 | T→T | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1141921 |
| 124 | T→P | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.93) | -10.06 | ClinVar:1512204 |
| 124 | T→N | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.93) | -8.25 | COSV52407309 |
| 125 | I→V | missense_variant | gnomAD | — | 1.64e-05 | — | likely_benign (0.08) | -3.44 | chr3-3140630-A-G |
| 125 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -3.44 | ClinVar:642907 |
| 126 | N→T | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.97) | -11.06 | chr3-3140634-A-C |
| 126 | N→Y | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.97) | -12.37 | ClinVar:3974066 |
| 127 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:591063 |
| 127 | S→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -2.12 | ClinVar:3639140 |
| 127 | S→F | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.99) | -11.51 | COSV52408014 |
| 127 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV52408329 |
| 128 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3140639-A-AT |
| 128 | M→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.23) | -4.67 | chr3-3140639-A-C |
| 128 | M→V | missense_variant | gnomAD | — | 5.47e-06 | — | ambiguous (0.41) | -7.17 | chr3-3140639-A-G |
| 128 | M→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.23) | -4.67 | chr3-3140639-A-T |
| 128 | M→T | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.93) | -8.99 | chr3-3140640-T-C |
| 128 | M→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.86) | -5.55 | chr3-3140641-G-A |
| 128 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3140641-GT-G |
| 128 | M→V | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.41) | -7.17 | ClinVar:942285 |
| 128 | M→L | missense_variant | COSMIC | — | — | — | likely_benign (0.23) | -4.67 | COSV99285931 |
| 129 | F→I | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.95) | -9.99 | chr3-3140642-T-A |
| 129 | F→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.94) | -9.24 | chr3-3140642-T-G |
| 130 | L→L | synonymous_variant | gnomAD | — | 4.11e-06 | — | — | 0.00 | chr3-3140645-T-C |
| 130 | L→S | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.96) | -10.49 | chr3-3140646-T-C |
| 130 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3140647-A-G |
| 130 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2739467 |
| 130 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV105090817 |
| 131 | G→R | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.69) | -7.34 | chr3-3140648-G-C |
| 131 | G→C | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.41) | -7.34 | chr3-3140648-G-T |
| 131 | G→D | missense_variant | gnomAD | — | 2.11e-06 | — | likely_benign (0.28) | -2.06 | chr3-3144584-G-A |
| 131 | G→V | missense_variant | gnomAD | — | 1.40e-06 | damaging | likely_pathogenic (0.75) | -9.25 | chr3-3144584-G-T |
| 131 | G→G | synonymous_variant | gnomAD | — | 7.02e-07 | — | — | 0.00 | chr3-3144585-T-G |
| 131 | G→C | missense_variant | COSMIC | — | — | — | ambiguous (0.41) | -7.34 | COSV99285743 |
| 132 | F→L | missense_variant | gnomAD | — | 2.10e-06 | — | ambiguous (0.49) | 0.00 | chr3-3144586-T-C |
| 132 | F→S | missense_variant | gnomAD | — | 7.01e-06 | — | ambiguous (0.41) | -7.00 | chr3-3144587-T-C |
| 132 | — | frameshift_variant | gnomAD | — | 7.01e-07 | LoF | — | — | chr3-3144587-TTG-T |
| 132 | F→L | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.49) | 0.00 | ClinVar:1488404 |
| 133 | D→Y | missense_variant | gnomAD | — | 1.40e-06 | damaging | likely_pathogenic (0.60) | -9.62 | chr3-3144589-G-T |
| 133 | D→G | missense_variant | gnomAD | — | 1.40e-06 | damaging | ambiguous (0.38) | -8.56 | chr3-3144590-A-G |
| 133 | D→V | missense_variant | gnomAD | — | 3.30e-05 | damaging | likely_pathogenic (0.70) | -10.18 | chr3-3144590-A-T |
| 133 | D→V | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | likely_pathogenic (0.70) | -10.18 | ClinVar:655641 |
| 133 | D→H | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.61) | -9.37 | COSV52408675 |
| 133 | D→G | missense_variant | COSMIC | — | — | damaging | ambiguous (0.38) | -8.56 | COSV52407691 |
| 134 | G→S | missense_variant | gnomAD | — | 7.00e-07 | damaging | likely_pathogenic (0.58) | -6.28 | chr3-3144592-G-A |
| 134 | G→C | missense_variant | gnomAD | — | 2.10e-06 | damaging | likely_pathogenic (0.84) | -8.18 | chr3-3144592-G-T |
| 134 | G→V | missense_variant | gnomAD | — | 7.01e-07 | damaging | likely_pathogenic (0.97) | -10.06 | chr3-3144593-G-T |
| 134 | G→G | synonymous_variant | gnomAD | — | 7.00e-07 | — | — | 0.00 | chr3-3144594-C-T |
| 134 | G→D | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.94) | -8.43 | COSV52408036 |
| 135 | T→A | missense_variant | gnomAD | — | 1.40e-06 | — | likely_benign (0.13) | -5.71 | chr3-3144595-A-G |
| 135 | — | frameshift_variant | gnomAD | — | 1.75e-05 | LoF | — | — | chr3-3144596-CTTTA-C |
| 135 | T→T | synonymous_variant | gnomAD | — | 6.99e-07 | — | — | 0.00 | chr3-3144597-T-A |
| 135 | T→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -5.71 | ClinVar:662661 |
| 135 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:1323716 |
| 136 | L→V | missense_variant | gnomAD | — | 6.99e-07 | — | likely_benign (0.08) | -0.82 | chr3-3144598-T-G |
| 136 | L→S | missense_variant | gnomAD | — | 6.98e-07 | damaging | likely_pathogenic (0.97) | -10.90 | chr3-3144599-T-C |
| 136 | — | frameshift_variant | gnomAD | — | 6.99e-07 | LoF | — | — | chr3-3144600-A-AT |
| 136 | L→S | missense_variant | ClinVar | Pathogenic | — | damaging | likely_pathogenic (0.97) | -10.90 | ClinVar:157616 |
| 136 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:848613 |
| 137 | F→S | missense_variant | gnomAD | — | 2.38e-05 | — | ambiguous (0.42) | -4.58 | chr3-3144602-T-C |
| 137 | F→L | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.85) | -4.95 | ClinVar:1401076 |
| 137 | F→S | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.42) | -4.58 | ClinVar:1504700 |
| 137 | F→L | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.85) | -4.95 | COSV52408285 |
| 137 | F→I | missense_variant | COSMIC | — | — | — | likely_benign (0.26) | -4.95 | COSV52409690 |
| 138 | D→Y | missense_variant | gnomAD | — | 3.99e-05 | damaging | likely_pathogenic (0.95) | -10.56 | chr3-3144604-G-T |
| 138 | D→E | missense_variant | gnomAD | — | 6.99e-07 | damaging | likely_pathogenic (0.99) | -8.25 | chr3-3144606-C-G |
| 138 | D→Y | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -10.56 | ClinVar:957966 |
| 138 | D→H | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.99) | -10.50 | ClinVar:1487899 |
| 139 | Y→D | missense_variant | gnomAD | — | 4.89e-06 | damaging | likely_pathogenic (0.75) | -10.08 | chr3-3144607-T-G |
| 139 | Y→Y | synonymous_variant | gnomAD | — | 2.09e-06 | — | — | 0.00 | chr3-3144609-C-T |
| 139 | Y→H | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.49) | -4.99 | ClinVar:1493536 |
| 139 | Y→D | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.75) | -10.08 | ClinVar:3027542 |
| 139 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3249305 |
| 140 | F→S | missense_variant | gnomAD | — | 4.74e-05 | damaging | likely_pathogenic (0.73) | -3.88 | chr3-3144611-T-C |
| 140 | F→C | missense_variant | gnomAD | — | 6.97e-07 | — | ambiguous (0.47) | -4.80 | chr3-3144611-T-G |
| 140 | F→L | missense_variant | gnomAD | — | 3.48e-06 | damaging | likely_pathogenic (0.98) | -6.33 | chr3-3144612-T-A |
| 140 | F→F | synonymous_variant | gnomAD | — | 6.97e-07 | — | — | 0.00 | chr3-3144612-T-C |
| 140 | F→L | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -6.33 | ClinVar:1382091 |
| 140 | F→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.73) | -3.88 | ClinVar:2194874 |
| 140 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2026321 |
| 140 | F→F | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3611591 |
| 141 | — | inframe_deletion | gnomAD | — | 6.97e-07 | — | — | — | chr3-3144613-AATGGTT-A |
| 141 | N→S | missense_variant | gnomAD | — | 1.39e-06 | — | likely_benign (0.07) | -1.84 | chr3-3144614-A-G |
| 141 | N→N | synonymous_variant | gnomAD | — | 2.51e-05 | — | — | 0.00 | chr3-3144615-T-C |
| 141 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:772116 |
| 141 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3658029 |
| 142 | G→S | missense_variant | gnomAD | — | 9.77e-06 | damaging | likely_pathogenic (0.88) | -7.25 | chr3-3144616-G-A |
| 142 | G→D | missense_variant | gnomAD | — | 1.39e-06 | damaging | likely_pathogenic (0.99) | -10.25 | chr3-3144617-G-A |
| 142 | G→A | missense_variant | gnomAD | — | 1.39e-06 | damaging | likely_pathogenic (0.89) | -8.06 | chr3-3144617-G-C |
| 142 | G→G | synonymous_variant | gnomAD | — | 2.09e-06 | — | — | 0.00 | chr3-3144618-T-A |
| 142 | G→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.88) | -7.25 | ClinVar:665083 |
| 143 | Y→F | missense_variant | gnomAD | — | 9.06e-06 | — | likely_benign (0.10) | -3.07 | chr3-3144620-A-T |
| 143 | Y→N | missense_variant | COSMIC | — | — | — | likely_benign (0.26) | -3.46 | COSV107243515 |
| 144 | E→K | missense_variant | gnomAD | — | 6.97e-07 | — | likely_benign (0.09) | -5.18 | chr3-3144622-G-A |
| 144 | E→E | synonymous_variant | gnomAD | — | 5.58e-06 | — | — | 0.00 | chr3-3144624-A-G |
| 144 | E→E | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2731489 |
| 145 | D→Y | missense_variant | gnomAD | — | 6.98e-07 | damaging | likely_pathogenic (0.85) | -9.48 | chr3-3144625-G-T |
| 145 | D→D | synonymous_variant | gnomAD | — | 6.97e-07 | — | — | 0.00 | chr3-3144627-T-C |
| 145 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3679933 |
| 145 | D→H | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.83) | -4.27 | COSV99285919 |
| 146 | L→L | synonymous_variant | gnomAD | — | 6.97e-07 | — | — | 0.00 | chr3-3144628-T-C |
| 146 | — | frameshift_variant | gnomAD | — | 6.97e-07 | LoF | — | — | chr3-3144629-TA-T |
| 146 | L→F | missense_variant | gnomAD | — | 6.97e-07 | damaging | likely_pathogenic (0.65) | -6.14 | chr3-3144630-A-T |
| 146 | L→V | missense_variant | COSMIC | — | — | — | likely_benign (0.18) | -6.42 | COSV52407506 |
| 147 | K→R | missense_variant | gnomAD | — | 1.39e-06 | — | likely_benign (0.08) | -2.77 | chr3-3144632-A-G |
| 147 | — | frameshift_variant | gnomAD | — | 1.39e-06 | LoF | — | — | chr3-3144632-AAAAT-A |
| 147 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -2.77 | ClinVar:834409 |
| 147 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3682974 |
| 148 | N→N | synonymous_variant | gnomAD | — | 2.09e-06 | — | — | 0.00 | chr3-3144636-T-C |
| 148 | N→K | missense_variant | gnomAD | — | 1.39e-06 | — | likely_benign (0.12) | -1.17 | chr3-3144636-T-G |
| 148 | — | inframe_deletion | gnomAD | — | 1.39e-06 | — | — | — | chr3-3144636-TAAG-T |
| 149 | K→E | missense_variant | gnomAD | — | 1.39e-06 | damaging | likely_benign (0.17) | -7.70 | chr3-3144637-A-G |
| 149 | — | frameshift_variant | gnomAD | — | 6.97e-07 | LoF | — | — | chr3-3144637-AAG-A |
| 149 | — | frameshift_variant | gnomAD | — | 6.98e-07 | LoF | — | — | chr3-3144639-GAA-G |
| 150 | K→* | stop_gained | gnomAD | — | 7.67e-06 | LoF | — | — | chr3-3144640-A-T |
| 150 | K→I | missense_variant | gnomAD | — | 6.97e-07 | — | likely_benign (0.20) | -5.35 | chr3-3144641-A-T |
| 150 | — | frameshift_variant | gnomAD | — | 2.93e-05 | LoF | — | — | chr3-3144641-AAGTT-A |
| 150 | K→K | synonymous_variant | gnomAD | — | 6.97e-07 | — | — | 0.00 | chr3-3144642-A-G |
| 150 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:423189 |
| 150 | K→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:836471 |
| 151 | V→L | missense_variant | gnomAD | — | 6.98e-07 | — | ambiguous (0.51) | -4.40 | chr3-3144643-G-C |
| 151 | V→V | synonymous_variant | gnomAD | — | 6.98e-07 | — | — | 0.00 | chr3-3144645-T-C |
| 151 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2745857 |
| 151 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV52407519 |
| 152 | R→K | missense_variant | gnomAD | — | 1.68e-05 | — | likely_benign (0.10) | -2.41 | chr3-3144647-G-A |
| 152 | R→I | missense_variant | gnomAD | — | 6.99e-07 | — | likely_benign (0.17) | -5.94 | chr3-3144647-G-T |
| 152 | R→R | synonymous_variant | gnomAD | — | 1.40e-06 | — | — | 0.00 | chr3-3144648-A-G |
| 152 | R→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.24) | -5.47 | ClinVar:2130053 |
| 152 | R→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -2.41 | ClinVar:2753472 |
| 152 | R→G | missense_variant | COSMIC | — | — | — | likely_benign (0.30) | -6.69 | COSV52408236 |
| 153 | F→Y | missense_variant | gnomAD | — | 6.99e-07 | damaging | likely_pathogenic (0.83) | -6.53 | chr3-3144650-T-A |
| 153 | F→F | synonymous_variant | gnomAD | — | 6.99e-07 | — | — | 0.00 | chr3-3144651-T-C |
| 153 | F→L | missense_variant | gnomAD | — | 4.20e-06 | damaging | likely_pathogenic (1.00) | -8.50 | chr3-3144651-T-G |
| 153 | F→L | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (1.00) | -8.50 | ClinVar:1517405 |
| 154 | V→A | missense_variant | gnomAD | — | 6.99e-07 | damaging | likely_pathogenic (0.74) | -7.94 | chr3-3144653-T-C |
| 154 | V→V | synonymous_variant | gnomAD | — | 2.10e-06 | — | — | 0.00 | chr3-3144654-T-C |
| 154 | V→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.23) | -6.31 | ClinVar:858296 |
| 154 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99285979 |
| 155 | G→E | missense_variant | gnomAD | — | 7.00e-07 | damaging | likely_pathogenic (0.96) | -9.06 | chr3-3144656-G-A |
| 155 | G→G | synonymous_variant | gnomAD | — | 2.10e-06 | — | — | 0.00 | chr3-3144657-A-C |
| 155 | G→G | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2048862 |
| 155 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.93) | -8.00 | ClinVar:3461964 |
| 155 | G→V | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.96) | -9.37 | COSV99285842 |
| 156 | H→Y | missense_variant | gnomAD | — | 7.01e-07 | — | likely_benign (0.09) | -2.14 | chr3-3144658-C-T |
| 156 | H→P | missense_variant | gnomAD | — | 1.40e-06 | — | likely_benign (0.12) | -2.30 | chr3-3144659-A-C |
| 156 | H→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | 0.06 | ClinVar:642730 |
| 156 | H→Y | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -2.14 | ClinVar:2093322 |
| 157 | A→T | missense_variant | gnomAD | — | 1.40e-06 | — | likely_benign (0.29) | -5.38 | chr3-3144661-G-A |
| 157 | A→G | missense_variant | gnomAD | — | 7.02e-07 | — | likely_benign (0.23) | -7.03 | chr3-3144662-C-G |
| 157 | A→V | missense_variant | gnomAD | — | 2.81e-06 | — | ambiguous (0.41) | -5.56 | chr3-3144662-C-T |
| 157 | A→A | synonymous_variant | gnomAD | — | 4.91e-06 | — | — | 0.00 | chr3-3144663-T-G |
| 157 | A→V | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.41) | -5.56 | ClinVar:432291 |
| 157 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4722525 |
| 158 | K→E | missense_variant | gnomAD | — | 7.02e-07 | — | likely_benign (0.09) | -5.52 | chr3-3144664-A-G |
| 159 | Q→K | missense_variant | gnomAD | — | 7.04e-07 | — | likely_benign (0.08) | -0.03 | chr3-3144667-C-A |
| 159 | — | frameshift_variant | gnomAD | — | 7.74e-06 | LoF | — | — | chr3-3144667-CAG-C |
| 159 | Q→R | missense_variant | gnomAD | — | 7.07e-07 | — | likely_benign (0.11) | -2.11 | chr3-3144668-A-G |
| 159 | Q→H | missense_variant | gnomAD | — | 8.77e-05 | — | likely_benign (0.25) | -3.32 | chr3-3144669-G-T |
| 159 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.25) | -3.32 | ClinVar:655830 |
| 159 | Q→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -0.03 | ClinVar:1030387 |
| 159 | Q→Q | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2194465 |
| 159 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1904390 |
| 160 | R→I | missense_variant | gnomAD | — | 2.12e-06 | damaging | likely_pathogenic (0.98) | -11.81 | chr3-3144671-G-T |
| 160 | R→I | missense_variant | ClinVar | Pathogenic | — | damaging | likely_pathogenic (0.98) | -11.81 | ClinVar:157613 |
| 161 | I→M | missense_variant | gnomAD | — | 4.97e-06 | — | ambiguous (0.51) | -6.57 | chr3-3144675-A-G |
| 161 | I→M | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.51) | -6.57 | ClinVar:3329132 |
| 163 | — | frameshift_variant | gnomAD | — | 7.13e-07 | LoF | — | — | chr3-3144680-A-AG |
| 163 | E→D | missense_variant | gnomAD | — | 7.14e-07 | damaging | likely_pathogenic (0.98) | -9.12 | chr3-3144681-G-T |
| 163 | E→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.92) | -9.87 | ClinVar:2013281 |
| 163 | E→Q | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.93) | -9.75 | COSV52408357 |
| 163 | E→D | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -9.12 | COSV52409417 |
| 164 | D→Y | missense_variant | gnomAD | — | 3.59e-06 | damaging | likely_pathogenic (0.99) | -12.12 | chr3-3144682-G-T |
| 164 | D→G | missense_variant | gnomAD | — | 4.30e-06 | damaging | likely_pathogenic (1.00) | -12.12 | chr3-3144683-A-G |
| 164 | D→V | missense_variant | gnomAD | — | 1.43e-06 | damaging | likely_pathogenic (1.00) | -12.37 | chr3-3144683-A-T |
| 164 | D→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (1.00) | -12.12 | ClinVar:1061932 |
| 166 | L→F | missense_variant | gnomAD | — | 2.16e-06 | damaging | likely_pathogenic (0.98) | -10.00 | chr3-3144688-C-T |
| 166 | L→V | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.84) | -9.06 | ClinVar:2121198 |
| 167 | R→K | missense_variant | gnomAD | — | 7.21e-07 | damaging | likely_pathogenic (0.98) | -11.56 | chr3-3144692-G-A |
| 167 | R→T | missense_variant | gnomAD | — | 7.21e-07 | damaging | likely_pathogenic (1.00) | -13.94 | chr3-3144692-G-C |
| 167 | R→K | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.98) | -11.56 | ClinVar:3025667 |
| 167 | R→I | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.99) | -13.25 | COSV99285666 |
| 168 | I→L | missense_variant | gnomAD | — | 7.21e-07 | damaging | ambiguous (0.44) | -7.83 | chr3-3144694-A-C |
| 168 | I→L | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.44) | -7.83 | ClinVar:1460971 |
| 170 | R→K | missense_variant | gnomAD | — | 3.62e-06 | damaging | likely_pathogenic (0.98) | -10.44 | chr3-3144701-G-A |
| 170 | R→T | missense_variant | gnomAD | — | 7.23e-07 | damaging | likely_pathogenic (1.00) | -13.37 | chr3-3144701-G-C |
| 170 | R→R | synonymous_variant | gnomAD | — | 7.23e-06 | — | — | 0.00 | chr3-3144702-A-G |
| 170 | R→R | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2830609 |
| 171 | Y→H | missense_variant | gnomAD | — | 7.25e-07 | damaging | likely_pathogenic (0.96) | -8.50 | chr3-3144703-T-C |
| 171 | Y→F | missense_variant | gnomAD | — | 7.25e-07 | — | likely_benign (0.25) | -5.75 | chr3-3144704-A-T |
| 171 | Y→* | stop_gained | gnomAD | — | 7.26e-07 | LoF | — | — | chr3-3144705-C-A |
| 171 | Y→Y | synonymous_variant | gnomAD | — | 2.18e-06 | — | — | 0.00 | chr3-3144705-C-T |
| 171 | Y→Y | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3698761 |
| 172 | F→F | synonymous_variant | gnomAD | — | 7.26e-07 | — | — | 0.00 | chr3-3144708-C-T |
| 173 | R→R | synonymous_variant | gnomAD | — | 7.27e-07 | — | — | 0.00 | chr3-3144709-A-C |
| 173 | R→K | missense_variant | gnomAD | — | 2.18e-06 | damaging | likely_pathogenic (0.96) | -10.44 | chr3-3144710-G-A |
| 173 | R→T | missense_variant | gnomAD | — | 9.47e-06 | damaging | likely_pathogenic (1.00) | -13.19 | chr3-3144710-G-C |
| 173 | R→R | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3146430-G-A |
| 173 | R→S | missense_variant | gnomAD | — | 6.87e-07 | damaging | likely_pathogenic (0.99) | -10.94 | chr3-3146430-G-C |
| 173 | R→S | missense_variant | gnomAD | — | 2.06e-06 | damaging | likely_pathogenic (0.99) | -10.94 | chr3-3146430-G-T |
| 173 | R→K | missense_variant | ClinVar | Likely pathogenic | — | damaging | likely_pathogenic (0.96) | -10.44 | ClinVar:931807 |
| 173 | R→R | synonymous_variant | ClinVar | Uncertain significance | — | — | — | 0.00 | ClinVar:955449 |
| 173 | R→R | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51642856 |
| 174 | F→C | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -10.25 | ClinVar:847642 |
| 175 | Y→Y | synonymous_variant | gnomAD | — | 2.06e-06 | — | — | 0.00 | chr3-3146436-T-C |
| 175 | Y→Y | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4811959 |
| 176 | G→R | missense_variant | gnomAD | — | 2.06e-06 | damaging | likely_pathogenic (0.96) | -9.93 | chr3-3146437-G-A |
| 176 | G→V | missense_variant | gnomAD | — | 6.87e-07 | damaging | likely_pathogenic (0.92) | -9.75 | chr3-3146438-G-T |
| 176 | G→W | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -11.68 | COSV99214359 |
| 177 | R→K | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | -5.12 | chr3-3146441-G-A |
| 177 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1457594 |
| 178 | I→F | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.25) | -5.56 | chr3-3146443-A-T |
| 178 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3146443-AT-A |
| 178 | I→N | missense_variant | gnomAD | — | 6.85e-07 | damaging | ambiguous (0.56) | -7.68 | chr3-3146444-T-A |
| 178 | I→T | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.27) | -4.59 | chr3-3146444-T-C |
| 178 | I→I | synonymous_variant | gnomAD | — | 1.37e-05 | — | — | 0.00 | chr3-3146445-T-A |
| 178 | I→M | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -4.28 | ClinVar:856780 |
| 178 | I→I | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1673607 |
| 178 | I→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.27) | -4.59 | ClinVar:3248863 |
| 179 | V→I | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.10) | -2.30 | chr3-3146446-G-A |
| 179 | V→E | missense_variant | gnomAD | — | 6.85e-07 | — | ambiguous (0.36) | -6.08 | chr3-3146447-T-A |
| 179 | V→A | missense_variant | gnomAD | — | 2.06e-06 | — | likely_benign (0.07) | 2.28 | chr3-3146447-T-C |
| 179 | V→G | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.13) | -3.08 | chr3-3146447-T-G |
| 180 | D→Y | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.13) | -6.68 | chr3-3146449-G-T |
| 180 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3146449-GACAA-G |
| 180 | D→G | missense_variant | gnomAD | — | 8.90e-06 | — | likely_benign (0.07) | -2.97 | chr3-3146450-A-G |
| 180 | D→D | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3146451-C-T |
| 180 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1152755 |
| 180 | D→E | missense_variant | COSMIC | — | — | — | likely_benign (0.08) | 0.12 | COSV99214101 |
| 181 | K→Q | missense_variant | gnomAD | — | 8.22e-06 | — | likely_benign (0.09) | -1.29 | chr3-3146452-A-C |
| 181 | K→K | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3146454-A-G |
| 181 | K→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -1.29 | ClinVar:971142 |
| 181 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -1.54 | ClinVar:1936290 |
| 181 | — | mnv | COSMIC | — | — | — | — | — | COSV51642800 |
| 181 | K→K | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51640450 |
| 182 | P→P | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146457-T-A |
| 182 | P→P | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146457-T-C |
| 182 | P→S | missense_variant | COSMIC | — | — | — | likely_benign (0.15) | -3.64 | COSV99214321 |
| 183 | G→A | missense_variant | gnomAD | — | 2.94e-05 | — | likely_benign (0.11) | -3.06 | chr3-3146459-G-C |
| 183 | G→V | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.17) | -4.87 | chr3-3146459-G-T |
| 183 | G→G | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3146460-T-A |
| 183 | G→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.17) | -4.87 | ClinVar:969987 |
| 183 | G→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.06 | ClinVar:1006197 |
| 184 | D→N | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | -0.12 | chr3-3146461-G-A |
| 184 | D→Y | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.09) | -5.05 | chr3-3146461-G-T |
| 184 | — | inframe_deletion | gnomAD | — | 6.85e-07 | — | — | — | chr3-3146461-GACCATGATCCTGAGA-G |
| 184 | D→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.12 | ClinVar:2014303 |
| 184 | D→N | missense_variant | COSMIC | — | — | — | likely_benign (0.07) | -0.12 | COSV51641147 |
| 185 | H→R | missense_variant | gnomAD | — | 6.16e-06 | damaging | likely_pathogenic (0.76) | -9.81 | chr3-3146465-A-G |
| 185 | H→H | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3146466-T-C |
| 185 | H→R | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | likely_pathogenic (0.76) | -9.81 | ClinVar:3720426 |
| 186 | D→A | missense_variant | gnomAD | — | 7.53e-06 | — | likely_benign (0.10) | -5.04 | chr3-3146468-A-C |
| 186 | D→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -5.79 | ClinVar:1060094 |
| 187 | P→A | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.06) | -0.80 | chr3-3146470-C-G |
| 187 | P→S | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.08) | -0.73 | chr3-3146470-C-T |
| 187 | P→H | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -3.26 | chr3-3146471-C-A |
| 187 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3146472-TGA-T |
| 187 | P→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -0.73 | ClinVar:1426653 |
| 187 | P→R | missense_variant | COSMIC | — | — | — | likely_benign (0.08) | -1.04 | COSV51643172 |
| 188 | E→D | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -1.61 | chr3-3146475-G-C |
| 189 | T→S | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.27) | -5.54 | chr3-3146477-C-G |
| 189 | T→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.22) | -3.56 | chr3-3146477-C-T |
| 190 | L→S | missense_variant | gnomAD | — | 1.37e-06 | damaging | ambiguous (0.48) | -8.98 | chr3-3146480-T-C |
| 190 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146481-G-A |
| 190 | L→F | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.29) | -7.32 | chr3-3146481-G-C |
| 190 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51640107 |
| 190 | L→F | missense_variant | COSMIC | — | — | — | likely_benign (0.29) | -7.32 | COSV99214300 |
| 191 | E→E | synonymous_variant | gnomAD | — | 6.16e-06 | — | — | 0.00 | chr3-3146484-A-G |
| 192 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2809894 |
| 193 | I→V | missense_variant | gnomAD | — | 1.51e-05 | — | likely_benign (0.08) | -3.56 | chr3-3146488-A-G |
| 193 | I→T | missense_variant | gnomAD | — | 9.37e-05 | damaging | likely_pathogenic (0.59) | -8.03 | chr3-3146489-T-C |
| 193 | I→M | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.21) | -6.37 | chr3-3146490-T-G |
| 193 | I→T | missense_variant | ClinVar | Pathogenic | — | damaging | likely_pathogenic (0.59) | -8.03 | ClinVar:157614 |
| 193 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -3.56 | ClinVar:648512 |
| 193 | I→M | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.21) | -6.37 | ClinVar:1404614 |
| 194 | A→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -1.78 | chr3-3146492-C-T |
| 194 | A→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -1.78 | ClinVar:1356033 |
| 195 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -4.37 | chr3-3146494-G-A |
| 195 | E→Q | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -3.07 | chr3-3146494-G-C |
| 195 | E→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -4.56 | chr3-3146495-A-G |
| 195 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV51643197 |
| 196 | N→H | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.21) | -6.36 | chr3-3146497-A-C |
| 196 | N→N | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146499-T-C |
| 197 | A→S | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | -3.10 | chr3-3146500-G-T |
| 197 | A→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.10 | ClinVar:1488968 |
| 197 | A→A | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51640445 |
| 198 | K→E | missense_variant | gnomAD | — | 1.85e-05 | — | likely_benign (0.09) | -2.49 | chr3-3146503-A-G |
| 198 | K→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.91 | chr3-3146504-A-G |
| 198 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -2.49 | ClinVar:1045153 |
| 198 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2023090 |
| 199 | G→D | missense_variant | gnomAD | — | 5.54e-05 | damaging | likely_pathogenic (0.87) | -9.44 | chr3-3146507-G-A |
| 199 | G→A | missense_variant | gnomAD | — | 8.89e-06 | damaging | ambiguous (0.54) | -8.81 | chr3-3146507-G-C |
| 199 | G→A | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.54) | -8.81 | ClinVar:856433 |
| 199 | G→D | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.87) | -9.44 | ClinVar:1441095 |
| 200 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146509-T-C |
| 200 | L→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.27) | -8.43 | chr3-3146509-T-G |
| 200 | L→S | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.98) | -10.75 | chr3-3146510-T-C |
| 200 | L→F | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.74) | -6.47 | chr3-3146511-G-C |
| 200 | L→F | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.74) | -6.47 | chr3-3146511-G-T |
| 201 | A→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -3.29 | chr3-3146512-G-A |
| 201 | A→D | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.39) | -4.77 | chr3-3146513-C-A |
| 201 | A→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -2.38 | chr3-3146513-C-G |
| 201 | A→A | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146514-T-A |
| 201 | A→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -2.38 | ClinVar:1497457 |
| 201 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1532813 |
| 202 | G→G | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3146517-A-C |
| 202 | G→G | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:386064 |
| 203 | I→V | missense_variant | gnomAD | — | 2.46e-05 | — | likely_benign (0.15) | -4.61 | chr3-3146518-A-G |
| 203 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -4.61 | ClinVar:960307 |
| 204 | S→P | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.82) | -8.42 | chr3-3146521-T-C |
| 204 | S→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.15) | -0.75 | chr3-3146521-T-G |
| 204 | S→S | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3146523-A-T |
| 204 | S→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -0.75 | ClinVar:1495324 |
| 206 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV104572177 |
| 207 | R→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.99) | -10.94 | ClinVar:493354 |
| 207 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1074520 |
| 207 | R→K | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.91) | -10.56 | ClinVar:1367673 |
| 208 | I→S | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.87) | -9.08 | chr3-3146534-T-G |
| 208 | I→I | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146535-T-C |
| 208 | I→M | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.28) | -6.42 | chr3-3146535-T-G |
| 208 | I→V | missense_variant | COSMIC | — | — | — | likely_benign (0.14) | -3.12 | COSV51640575 |
| 209 | W→S | missense_variant | gnomAD | — | 7.53e-06 | damaging | likely_pathogenic (0.64) | -10.94 | chr3-3146537-G-C |
| 209 | W→* | stop_gained | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3146538-G-A |
| 209 | W→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.64) | -10.94 | ClinVar:963696 |
| 209 | W→C | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.88) | -9.69 | COSV51641274 |
| 210 | V→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.25) | -4.08 | chr3-3146539-G-C |
| 210 | V→V | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3146541-G-A |
| 211 | E→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3146542-G-T |
| 211 | E→E | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146544-A-G |
| 211 | E→Q | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.97) | -10.87 | COSV51639962 |
| 211 | E→A | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.97) | -11.00 | COSV51642688 |
| 212 | L→V | missense_variant | gnomAD | — | 6.16e-06 | — | likely_benign (0.15) | -6.06 | chr3-3146545-C-G |
| 212 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3146547-G-A |
| 212 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:959702 |
| 212 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -6.06 | ClinVar:1515734 |
| 212 | — | mnv | COSMIC | — | — | — | — | — | COSV51641664 |
| 213 | K→E | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.41) | -9.36 | chr3-3146548-A-G |
| 213 | K→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -4.23 | chr3-3146549-A-G |
| 214 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51640074 |
| 215 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV105081502 |
| 216 | L→I | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | -5.00 | chr3-3146557-C-A |
| 216 | L→V | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.10) | -4.85 | chr3-3146557-C-G |
| 216 | L→F | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.31) | -4.79 | chr3-3146557-C-T |
| 216 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3146557-CTT-C |
| 216 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3146559-T-G |
| 216 | L→F | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.31) | -4.79 | ClinVar:647249 |
| 217 | V→F | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.13) | -5.82 | chr3-3146560-G-T |
| 217 | V→G | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | -4.10 | chr3-3146561-T-G |
| 217 | V→F | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -5.82 | ClinVar:1461484 |
| 217 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51640270 |
| 218 | G→C | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.50) | -8.55 | chr3-3146563-G-T |
| 218 | G→D | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.81) | -8.68 | chr3-3146564-G-A |
| 218 | G→G | synonymous_variant | gnomAD | — | 1.16e-04 | — | — | 0.00 | chr3-3146565-T-C |
| 218 | G→G | synonymous_variant | ClinVar | Benign | — | — | — | 0.00 | ClinVar:1169486 |
| 218 | G→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.27) | -5.12 | ClinVar:2118067 |
| 219 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1155859 |
| 220 | H→D | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.44) | -9.31 | chr3-3146569-C-G |
| 220 | H→R | missense_variant | gnomAD | — | 5.47e-06 | damaging | likely_benign (0.22) | -8.37 | chr3-3146570-A-G |
| 220 | H→H | synonymous_variant | gnomAD | — | 1.78e-05 | — | — | 0.00 | chr3-3146571-T-C |
| 220 | H→H | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:715286 |
| 220 | H→D | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.44) | -9.31 | ClinVar:1409523 |
| 220 | H→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_benign (0.22) | -8.37 | ClinVar:3027543 |
| 221 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51639807 |
| 222 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1155176 |
| 222 | N→K | missense_variant | COSMIC | — | — | — | likely_benign (0.12) | -2.73 | COSV108755808 |
| 223 | H→H | synonymous_variant | gnomAD | — | 4.17e-05 | — | — | 0.00 | chr3-3146580-T-C |
| 223 | H→H | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:716601 |
| 224 | L→F | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.62) | -5.53 | chr3-3146583-G-T |
| 225 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3146584-A-AT |
| 225 | I→V | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.08) | -0.80 | chr3-3146584-A-G |
| 225 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -0.80 | ClinVar:998681 |
| 225 | I→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.57) | -7.88 | ClinVar:3974063 |
| 226 | H→N | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -4.97 | chr3-3146587-C-A |
| 226 | H→D | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.21) | -8.72 | chr3-3146587-C-G |
| 226 | H→Q | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.12) | -3.56 | chr3-3146589-C-G |
| 226 | H→H | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3146589-C-T |
| 226 | H→H | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1671193 |
| 226 | H→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -4.97 | ClinVar:2131037 |
| 226 | H→N | missense_variant | COSMIC | — | — | — | likely_benign (0.12) | -4.97 | COSV51640388 |
| 227 | L→F | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.20) | -5.72 | chr3-3146590-C-T |
| 227 | L→R | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.15) | -7.78 | chr3-3146591-T-G |
| 227 | L→F | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -5.72 | ClinVar:4191546 |
| 228 | I→V | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | -3.37 | chr3-3146593-A-G |
| 228 | I→N | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.64) | -10.12 | chr3-3146594-T-A |
| 228 | I→T | missense_variant | gnomAD | — | 2.74e-06 | — | ambiguous (0.46) | -5.77 | chr3-3146594-T-C |
| 228 | I→M | missense_variant | gnomAD | — | 1.30e-05 | — | likely_benign (0.06) | -2.62 | chr3-3146595-C-G |
| 228 | I→I | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3146595-C-T |
| 228 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.37 | ClinVar:948728 |
| 228 | I→M | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -2.62 | ClinVar:2418296 |
| 228 | I→I | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2041116 |
| 229 | Y→D | missense_variant | gnomAD | — | 6.85e-07 | damaging | ambiguous (0.44) | -9.83 | chr3-3146596-T-G |
| 229 | Y→S | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_benign (0.23) | -8.02 | chr3-3146597-A-C |
| 229 | Y→C | missense_variant | gnomAD | — | 1.23e-05 | — | likely_benign (0.08) | -5.55 | chr3-3146597-A-G |
| 229 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3146598-TG-T |
| 229 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1406480 |
| 229 | Y→C | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -5.55 | ClinVar:2201563 |
| 230 | D→D | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3146601-T-C |
| 230 | D→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -5.33 | ClinVar:1037472 |
| 230 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1152249 |
| 231 | L→I | missense_variant | gnomAD | — | 1.64e-05 | — | likely_benign (0.11) | -5.89 | chr3-3146602-C-A |
| 231 | L→V | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.12) | -6.01 | chr3-3146602-C-G |
| 231 | L→I | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | — | likely_benign (0.11) | -5.89 | ClinVar:968468 |
| 232 | D→N | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | 0.25 | chr3-3146605-G-A |
| 232 | D→G | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.06) | 3.43 | chr3-3146606-A-G |
| 232 | D→D | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3146607-T-C |
| 232 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3705890 |
| 232 | D→N | missense_variant | COSMIC | — | — | — | likely_benign (0.07) | 0.25 | COSV99214130 |
| 233 | V→M | missense_variant | gnomAD | — | 1.37e-05 | — | likely_benign (0.22) | -2.57 | chr3-3146608-G-A |
| 233 | V→M | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.22) | -2.57 | ClinVar:1062681 |
| 234 | A→D | missense_variant | gnomAD | — | 6.86e-07 | damaging | likely_pathogenic (0.87) | -8.66 | chr3-3146612-C-A |
| 234 | A→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -5.16 | ClinVar:2100205 |
| 235 | P→L | missense_variant | gnomAD | — | 6.88e-07 | — | likely_benign (0.10) | -4.05 | chr3-3146615-C-T |
| 235 | P→P | synonymous_variant | gnomAD | — | 6.88e-07 | — | — | 0.00 | chr3-3146616-T-C |
| 235 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1611103 |
| 235 | P→H | missense_variant | COSMIC | — | — | — | likely_benign (0.11) | -5.27 | COSV99214278 |
| 236 | Y→H | missense_variant | gnomAD | — | 1.38e-06 | — | likely_benign (0.12) | -2.44 | chr3-3146617-T-C |
| 236 | Y→D | missense_variant | gnomAD | — | 6.90e-07 | damaging | ambiguous (0.46) | -9.04 | chr3-3146617-T-G |
| 236 | Y→Y | synonymous_variant | gnomAD | — | 6.21e-06 | — | — | 0.00 | chr3-3146619-T-C |
| 236 | Y→* | stop_gained | gnomAD | — | 6.90e-07 | LoF | — | — | chr3-3146619-T-G |
| 236 | Y→Y | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1959879 |
| 237 | I→V | missense_variant | gnomAD | — | 7.59e-06 | — | likely_benign (0.07) | -3.37 | chr3-3146620-A-G |
| 237 | I→T | missense_variant | gnomAD | — | 4.14e-06 | — | likely_benign (0.15) | -5.40 | chr3-3146621-T-C |
| 237 | I→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -5.40 | ClinVar:2196440 |
| 238 | G→S | missense_variant | gnomAD | — | 2.09e-06 | — | ambiguous (0.53) | -6.34 | chr3-3146623-G-A |
| 238 | G→A | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.57) | -7.25 | chr3-3147450-G-C |
| 238 | G→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.88) | -9.56 | chr3-3147450-G-T |
| 238 | G→C | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.71) | -8.18 | COSV99214360 |
| 239 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1408061 |
| 239 | L→S | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.98) | -11.16 | COSV51639763 |
| 240 | P→S | missense_variant | gnomAD | — | 2.05e-06 | — | ambiguous (0.52) | -4.99 | chr3-3147455-C-T |
| 240 | — | inframe_insertion | gnomAD | — | 5.31e-04 | — | — | — | chr3-3147456-C-CTAAACT |
| 240 | P→R | missense_variant | gnomAD | — | 5.67e-04 | damaging | likely_pathogenic (0.82) | -9.86 | chr3-3147456-C-G |
| 240 | — | inframe_insertion | ClinVar | Benign/Likely benign | — | — | — | — | ClinVar:475270 |
| 240 | P→R | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | damaging | likely_pathogenic (0.82) | -9.86 | ClinVar:784897 |
| 240 | P→S | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.52) | -4.99 | ClinVar:864740 |
| 240 | P→R | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.82) | -9.86 | COSV51640356 |
| 240 | — | inframe_insertion | COSMIC | — | — | — | — | — | COSV51640377 |
| 241 | A→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -0.42 | chr3-3147458-G-A |
| 241 | A→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.42 | ClinVar:489387 |
| 242 | N→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.53 | chr3-3147462-A-C |
| 242 | N→S | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.06) | -2.11 | chr3-3147462-A-G |
| 242 | N→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -4.78 | chr3-3147462-A-T |
| 242 | N→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -4.78 | ClinVar:1449875 |
| 242 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1554095 |
| 243 | A→P | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -2.75 | chr3-3147464-G-C |
| 243 | A→G | missense_variant | gnomAD | — | 4.11e-06 | — | likely_benign (0.07) | -1.06 | chr3-3147465-C-G |
| 243 | A→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -3.47 | chr3-3147465-C-T |
| 243 | A→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.06 | ClinVar:948249 |
| 243 | A→T | missense_variant | COSMIC | — | — | — | likely_benign (0.10) | -4.35 | COSV51640996 |
| 244 | S→R | missense_variant | gnomAD | — | 1.37e-06 | — | ambiguous (0.35) | -4.00 | chr3-3147467-A-C |
| 244 | S→T | missense_variant | gnomAD | — | 1.71e-05 | — | likely_benign (0.11) | -2.38 | chr3-3147468-G-C |
| 244 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147468-GT-G |
| 244 | S→R | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.35) | -4.00 | chr3-3147469-T-A |
| 244 | S→R | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.35) | -4.00 | ClinVar:1500553 |
| 244 | S→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -2.38 | ClinVar:1702640 |
| 245 | L→V | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -4.36 | chr3-3147470-T-G |
| 245 | L→S | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_benign (0.27) | -8.46 | chr3-3147471-T-C |
| 245 | L→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_benign (0.27) | -8.46 | ClinVar:1900436 |
| 246 | E→K | missense_variant | gnomAD | — | 8.21e-06 | — | likely_benign (0.08) | -3.87 | chr3-3147473-G-A |
| 246 | E→Q | missense_variant | gnomAD | — | 6.84e-06 | — | likely_benign (0.08) | -3.31 | chr3-3147473-G-C |
| 246 | E→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -3.87 | ClinVar:839964 |
| 246 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV104572178 |
| 247 | E→K | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.39) | -7.92 | chr3-3147476-G-A |
| 247 | E→* | stop_gained | gnomAD | — | 6.36e-05 | LoF | — | — | chr3-3147476-G-T |
| 247 | E→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.25) | -6.79 | chr3-3147477-A-T |
| 247 | E→E | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147478-A-G |
| 247 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147478-AT-A |
| 247 | E→* | stop_gained | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:1366781 |
| 248 | F→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.32) | -5.89 | chr3-3147479-T-G |
| 248 | F→C | missense_variant | gnomAD | — | 1.85e-05 | — | ambiguous (0.34) | -7.24 | chr3-3147480-T-G |
| 248 | F→C | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.34) | -7.24 | ClinVar:1426733 |
| 249 | D→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -5.05 | chr3-3147482-G-T |
| 249 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147484-C-CA |
| 249 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147484-C-CAA |
| 249 | D→D | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147484-C-T |
| 249 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2959627 |
| 250 | K→R | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.06) | 1.59 | chr3-3147486-A-G |
| 250 | K→E | missense_variant | COSMIC | — | — | — | likely_benign (0.09) | -3.80 | COSV99214141 |
| 251 | V→V | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147490-C-T |
| 251 | V→V | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2086909 |
| 251 | V→A | missense_variant | COSMIC | — | — | — | ambiguous (0.44) | -6.08 | COSV99214306 |
| 252 | S→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -3.10 | chr3-3147491-A-G |
| 252 | S→C | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.05) | 0.23 | chr3-3147491-A-T |
| 252 | S→T | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | -0.45 | chr3-3147492-G-C |
| 252 | S→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -1.48 | chr3-3147492-G-T |
| 252 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1070063 |
| 253 | K→E | missense_variant | gnomAD | — | 1.37e-05 | — | likely_benign (0.09) | -3.14 | chr3-3147494-A-G |
| 253 | K→* | stop_gained | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147494-A-T |
| 253 | K→R | missense_variant | gnomAD | — | 2.12e-05 | — | likely_benign (0.07) | -1.54 | chr3-3147495-A-G |
| 253 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -3.14 | ClinVar:950461 |
| 253 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.54 | ClinVar:941882 |
| 253 | K→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1371643 |
| 254 | N→N | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3147499-T-C |
| 254 | N→N | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2146984 |
| 254 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV99214405 |
| 255 | V→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.53 | chr3-3147500-G-A |
| 255 | V→D | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.52) | -8.34 | chr3-3147501-T-A |
| 255 | V→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -1.78 | chr3-3147501-T-C |
| 255 | V→G | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.17) | -5.46 | chr3-3147501-T-G |
| 255 | V→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -1.78 | ClinVar:2086035 |
| 256 | D→N | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -0.75 | chr3-3147503-G-A |
| 256 | D→H | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -1.19 | chr3-3147503-G-C |
| 256 | D→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -1.38 | chr3-3147504-A-G |
| 256 | D→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.38 | ClinVar:2076777 |
| 256 | D→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.75 | ClinVar:2076120 |
| 256 | D→N | missense_variant | COSMIC | — | — | — | likely_benign (0.07) | -0.75 | COSV51642961 |
| 257 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147507-G-GT |
| 257 | — | frameshift_variant | gnomAD | — | 1.30e-05 | LoF | — | — | chr3-3147507-GT-G |
| 257 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:642460 |
| 257 | G→V | missense_variant | COSMIC | — | — | — | likely_benign (0.09) | -5.21 | COSV105081513 |
| 258 | F→I | missense_variant | gnomAD | — | 6.23e-05 | — | likely_benign (0.06) | -0.28 | chr3-3147509-T-A |
| 258 | F→L | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.31) | 3.32 | chr3-3147511-T-A |
| 258 | F→I | missense_variant | ClinVar | Likely benign | — | — | likely_benign (0.06) | -0.28 | ClinVar:766918 |
| 258 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51641339 |
| 259 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV99214136 |
| 260 | P→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.21) | -5.03 | chr3-3147516-C-T |
| 260 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3729950 |
| 261 | K→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -2.02 | chr3-3147519-A-G |
| 262 | P→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -2.40 | chr3-3147521-C-G |
| 262 | P→S | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -3.65 | chr3-3147521-C-T |
| 262 | P→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.31) | -7.88 | chr3-3147522-C-T |
| 262 | P→P | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147523-A-G |
| 262 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2721683 |
| 262 | P→L | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_benign (0.31) | -7.88 | ClinVar:4191542 |
| 263 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51639802 |
| 264 | T→S | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.37) | -5.12 | chr3-3147528-C-G |
| 264 | T→T | synonymous_variant | gnomAD | — | 4.79e-06 | — | — | 0.00 | chr3-3147529-T-C |
| 265 | L→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -3.97 | chr3-3147530-C-G |
| 265 | L→L | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3147532-T-A |
| 265 | L→L | synonymous_variant | gnomAD | — | 2.33e-05 | — | — | 0.00 | chr3-3147532-T-C |
| 265 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -3.97 | ClinVar:1491546 |
| 265 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1543396 |
| 266 | L→M | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.17) | -5.20 | chr3-3147533-T-A |
| 266 | L→L | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3147533-T-C |
| 266 | L→V | missense_variant | gnomAD | — | 1.09e-05 | — | likely_benign (0.16) | -6.04 | chr3-3147533-T-G |
| 266 | L→S | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.88) | -10.29 | chr3-3147534-T-C |
| 266 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147535-G-A |
| 266 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -6.04 | ClinVar:1040160 |
| 266 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2415165 |
| 267 | A→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -0.38 | chr3-3147536-G-A |
| 267 | A→A | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147538-C-A |
| 267 | A→A | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147538-C-G |
| 268 | S→A | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.05) | 0.19 | chr3-3147539-T-G |
| 268 | S→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.47) | -7.74 | chr3-3147540-C-T |
| 268 | S→S | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147541-A-C |
| 268 | S→S | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147541-A-G |
| 268 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1089862 |
| 269 | L→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -5.73 | chr3-3147542-T-A |
| 269 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147542-T-C |
| 269 | L→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -5.73 | ClinVar:1714263 |
| 270 | F→L | missense_variant | gnomAD | — | 3.42e-05 | — | ambiguous (0.41) | 0.50 | chr3-3147547-C-A |
| 270 | F→L | missense_variant | gnomAD | — | 2.74e-06 | — | ambiguous (0.41) | 0.50 | chr3-3147547-C-G |
| 270 | F→F | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147547-C-T |
| 270 | F→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.27) | -4.59 | ClinVar:863576 |
| 270 | F→L | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.41) | 0.50 | ClinVar:969591 |
| 271 | K→E | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -0.36 | chr3-3147548-A-G |
| 271 | K→N | missense_variant | gnomAD | — | 6.84e-06 | — | likely_benign (0.22) | 0.60 | chr3-3147550-A-C |
| 271 | K→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.22) | 0.60 | ClinVar:4633682 |
| 271 | K→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -0.09 | ClinVar:4744393 |
| 272 | V→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -0.41 | chr3-3147551-G-A |
| 272 | V→V | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2780042 |
| 273 | Q→H | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.20) | -3.20 | chr3-3147556-A-C |
| 273 | — | inframe_deletion | gnomAD | — | 1.37e-06 | — | — | — | chr3-3147556-AGAT-A |
| 273 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | 0.06 | ClinVar:1015037 |
| 273 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -3.20 | ClinVar:2107506 |
| 274 | D→Y | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.19) | -7.10 | chr3-3147557-G-T |
| 274 | D→D | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147559-T-C |
| 274 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1107317 |
| 274 | D→H | missense_variant | COSMIC | — | — | — | likely_benign (0.24) | -5.95 | COSV99214384 |
| 274 | D→N | missense_variant | COSMIC | — | — | — | likely_benign (0.11) | -2.29 | COSV51641817 |
| 275 | D→D | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147562-T-C |
| 276 | V→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -0.50 | chr3-3147563-G-A |
| 276 | V→F | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.29) | -1.50 | chr3-3147563-G-T |
| 276 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147565-C-T |
| 276 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214037 |
| 277 | T→A | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.07) | -0.47 | chr3-3147566-A-G |
| 277 | T→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -4.55 | chr3-3147567-C-G |
| 277 | T→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | 0.70 | chr3-3147567-C-T |
| 278 | K→K | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51641500 |
| 279 | L→V | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.16) | -4.85 | chr3-3147572-T-G |
| 279 | L→W | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.54) | -7.01 | chr3-3147573-T-G |
| 279 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147574-G-A |
| 279 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -4.85 | ClinVar:663557 |
| 279 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3040524 |
| 280 | D→Y | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.39) | -5.99 | ClinVar:1056114 |
| 281 | L→V | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.08) | -1.16 | chr3-3147578-T-G |
| 281 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:765221 |
| 281 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1102592 |
| 281 | L→L | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214087 |
| 282 | R→T | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.92) | -9.31 | chr3-3147582-G-C |
| 282 | R→R | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147583-G-A |
| 282 | R→R | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51640520 |
| 283 | L→F | missense_variant | gnomAD | — | 1.03e-05 | — | ambiguous (0.47) | -6.52 | chr3-3147586-G-T |
| 283 | L→F | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.47) | -6.52 | ClinVar:1990136 |
| 283 | L→S | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.92) | -8.61 | COSV51639849 |
| 283 | L→F | missense_variant | COSMIC | — | — | — | ambiguous (0.47) | -6.52 | COSV99214134 |
| 284 | K→K | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51639798 |
| 285 | I→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -1.88 | chr3-3147590-A-G |
| 285 | — | frameshift_variant | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3147592-C-CG |
| 285 | I→M | missense_variant | gnomAD | — | 3.28e-05 | — | likely_benign (0.08) | -0.81 | chr3-3147592-C-G |
| 285 | I→I | synonymous_variant | gnomAD | — | 1.02e-04 | — | — | 0.00 | chr3-3147592-C-T |
| 285 | I→I | synonymous_variant | ClinVar | Benign/Likely benign | — | — | — | 0.00 | ClinVar:516943 |
| 285 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -1.88 | ClinVar:2133596 |
| 286 | A→T | missense_variant | gnomAD | — | 8.21e-06 | — | likely_benign (0.10) | 1.62 | chr3-3147593-G-A |
| 286 | A→V | missense_variant | gnomAD | — | 4.10e-06 | — | likely_benign (0.29) | -5.00 | chr3-3147594-C-T |
| 286 | A→A | synonymous_variant | gnomAD | — | 8.23e-01 | — | — | 0.00 | chr3-3147595-A-G |
| 286 | A→A | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147595-A-T |
| 286 | A→A | synonymous_variant | ClinVar | Benign | — | — | — | 0.00 | ClinVar:380145 |
| 286 | A→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | 1.62 | ClinVar:842505 |
| 286 | — | mnv | ClinVar | Uncertain significance | — | — | — | — | ClinVar:1041707 |
| 286 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1575201 |
| 286 | — | mnv | ClinVar | Uncertain significance | — | — | — | — | ClinVar:2157564 |
| 286 | A→V | missense_variant | COSMIC | — | — | — | likely_benign (0.29) | -5.00 | COSV99214090 |
| 286 | A→A | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51640888 |
| 287 | K→N | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.67) | -6.61 | chr3-3147598-A-T |
| 287 | K→E | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.49) | -9.30 | ClinVar:3027545 |
| 288 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.26) | -7.11 | chr3-3147599-G-A |
| 288 | E→Q | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.21) | -6.20 | chr3-3147599-G-C |
| 288 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147600-AGGAGAAAAACCTT-A |
| 288 | E→E | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147601-G-A |
| 288 | E→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.21) | -6.20 | ClinVar:3810901 |
| 289 | E→K | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.74) | -8.58 | chr3-3147602-G-A |
| 289 | E→G | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.56) | -8.15 | chr3-3147603-A-G |
| 289 | E→E | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147604-G-A |
| 289 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147604-GA-G |
| 289 | E→G | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.56) | -8.15 | ClinVar:3810903 |
| 290 | K→K | synonymous_variant | gnomAD | — | 4.10e-06 | — | — | 0.00 | chr3-3147607-A-G |
| 291 | N→H | missense_variant | gnomAD | — | 8.89e-06 | — | likely_benign (0.10) | -4.50 | chr3-3147608-A-C |
| 292 | L→F | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.29) | -5.44 | chr3-3147611-C-T |
| 292 | L→F | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.29) | -5.44 | ClinVar:4633683 |
| 292 | L→L | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214226 |
| 293 | G→S | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.15) | 1.41 | chr3-3147614-G-A |
| 293 | G→C | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -0.06 | chr3-3147614-G-T |
| 293 | G→D | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.92) | -7.08 | chr3-3147615-G-A |
| 293 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147616-CTTAT-C |
| 293 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1428404 |
| 293 | G→D | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.92) | -7.08 | ClinVar:1432019 |
| 294 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147619-A-G |
| 294 | L→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -3.55 | ClinVar:2178355 |
| 294 | L→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2047879 |
| 294 | L→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3662766 |
| 295 | F→F | synonymous_variant | gnomAD | — | 4.11e-06 | — | — | 0.00 | chr3-3147622-T-C |
| 295 | F→L | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.95) | -5.30 | chr3-3147622-T-G |
| 295 | F→F | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1127860 |
| 295 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV99214124 |
| 296 | I→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.09) | -3.24 | chr3-3147623-A-G |
| 296 | I→M | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.15) | -5.27 | chr3-3147625-A-G |
| 296 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147625-AG-A |
| 296 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3690813 |
| 296 | I→L | missense_variant | COSMIC | — | — | — | likely_benign (0.08) | 0.81 | COSV99214122 |
| 297 | V→I | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.08) | -2.19 | chr3-3147626-G-A |
| 298 | K→E | missense_variant | gnomAD | — | 3.63e-05 | — | likely_benign (0.21) | -4.50 | chr3-3147629-A-G |
| 298 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147630-A-AAAAT |
| 298 | K→N | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.48) | -2.16 | chr3-3147631-A-T |
| 298 | K→E | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | — | likely_benign (0.21) | -4.50 | ClinVar:1505287 |
| 299 | N→H | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.04) | 1.44 | chr3-3147632-A-C |
| 299 | N→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.05) | 2.50 | chr3-3147632-A-T |
| 299 | N→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.25) | -6.86 | chr3-3147633-A-T |
| 299 | N→N | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147634-T-C |
| 299 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51639713 |
| 300 | R→K | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.24) | -5.05 | chr3-3147636-G-A |
| 300 | R→T | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (0.89) | -8.23 | chr3-3147636-G-C |
| 300 | R→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.24) | -5.05 | ClinVar:1994401 |
| 300 | R→T | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.89) | -8.23 | ClinVar:3027546 |
| 301 | K→E | missense_variant | gnomAD | — | 7.53e-06 | — | likely_benign (0.10) | -0.62 | chr3-3147638-A-G |
| 301 | K→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | 2.76 | ClinVar:1431296 |
| 301 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2078996 |
| 301 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -0.62 | ClinVar:2577555 |
| 301 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51640163 |
| 302 | D→H | missense_variant | gnomAD | — | 3.76e-05 | — | likely_benign (0.19) | -4.52 | chr3-3147641-G-C |
| 302 | D→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -4.77 | chr3-3147641-G-T |
| 302 | — | frameshift_variant | gnomAD | — | 3.42e-06 | LoF | — | — | chr3-3147641-GATTT-G |
| 302 | D→G | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.13) | -3.80 | chr3-3147642-A-G |
| 302 | D→D | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3147643-T-C |
| 302 | D→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -4.52 | ClinVar:945222 |
| 302 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1400916 |
| 303 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147644-T-C |
| 303 | L→V | missense_variant | gnomAD | — | 4.79e-06 | — | likely_benign (0.15) | -3.19 | chr3-3147644-T-G |
| 304 | I→V | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.06) | 0.83 | chr3-3147647-A-G |
| 304 | I→I | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147649-T-A |
| 304 | I→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | 0.41 | ClinVar:2533688 |
| 305 | K→T | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -4.29 | chr3-3147651-A-C |
| 306 | A→A | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147655-A-G |
| 306 | A→A | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51642720 |
| 307 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147656-AC-A |
| 307 | T→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -2.48 | chr3-3147657-C-T |
| 307 | T→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | 0.39 | ClinVar:835574 |
| 307 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:933693 |
| 307 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1939998 |
| 307 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2067995 |
| 307 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2859561 |
| 308 | D→G | missense_variant | gnomAD | — | 6.84e-06 | — | likely_benign (0.07) | -2.38 | chr3-3147660-A-G |
| 308 | D→E | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -1.12 | chr3-3147661-T-G |
| 308 | D→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -2.38 | ClinVar:2416184 |
| 308 | D→Y | missense_variant | COSMIC | — | — | — | likely_benign (0.12) | -5.27 | COSV51642577 |
| 309 | S→G | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.06) | -1.20 | chr3-3147662-A-G |
| 309 | S→C | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -2.77 | chr3-3147662-A-T |
| 309 | S→T | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.07) | -0.86 | chr3-3147663-G-C |
| 309 | S→S | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147664-T-C |
| 309 | S→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -3.39 | chr3-3147664-T-G |
| 309 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1452710 |
| 309 | S→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -1.20 | ClinVar:4191545 |
| 310 | — | frameshift_variant | gnomAD | — | 9.51e-05 | LoF | — | — | chr3-3147665-TC-T |
| 310 | S→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -2.20 | chr3-3147666-C-T |
| 310 | S→S | synonymous_variant | gnomAD | — | 6.16e-06 | — | — | 0.00 | chr3-3147667-A-G |
| 310 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:852873 |
| 310 | S→P | missense_variant | COSMIC | — | — | — | likely_benign (0.06) | -1.08 | COSV99214285 |
| 311 | D→H | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | 0.53 | chr3-3147668-G-C |
| 311 | D→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -0.97 | chr3-3147668-G-T |
| 311 | D→D | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3147670-C-T |
| 311 | D→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | 1.61 | ClinVar:1412624 |
| 311 | D→D | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2882262 |
| 312 | P→T | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.08) | -3.99 | chr3-3147671-C-A |
| 312 | P→A | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | -3.13 | chr3-3147671-C-G |
| 312 | P→L | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.09) | -2.82 | chr3-3147672-C-T |
| 312 | P→P | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3147673-A-G |
| 312 | P→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -2.82 | ClinVar:1355143 |
| 312 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1616428 |
| 313 | L→L | synonymous_variant | gnomAD | — | 6.16e-06 | — | — | 0.00 | chr3-3147674-T-C |
| 313 | L→L | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3147676-G-A |
| 313 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2158466 |
| 315 | P→A | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.12) | -4.35 | chr3-3147680-C-G |
| 315 | P→S | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.22) | -3.67 | chr3-3147680-C-T |
| 315 | P→R | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.23) | -5.41 | chr3-3147681-C-G |
| 315 | P→L | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.15) | -3.78 | chr3-3147681-C-T |
| 315 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3147682-C-CTA |
| 315 | P→P | synonymous_variant | gnomAD | — | 1.64e-05 | — | — | 0.00 | chr3-3147682-C-T |
| 315 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1130591 |
| 315 | P→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.15) | -3.78 | ClinVar:2159777 |
| 315 | P→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -4.35 | ClinVar:3461965 |
| 315 | P→P | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214255 |
| 316 | — | frameshift_variant | gnomAD | — | 4.11e-06 | LoF | — | — | chr3-3147683-T-TATCA |
| 316 | Y→C | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.25) | -5.79 | chr3-3147684-A-G |
| 316 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:841899 |
| 317 | — | frameshift_variant | gnomAD | — | 6.85e-07 | LoF | — | — | chr3-3147686-CAA-C |
| 317 | Q→R | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -0.34 | chr3-3147687-A-G |
| 317 | Q→R | missense_variant | COSMIC | — | — | — | likely_benign (0.08) | -0.34 | COSV51641724 |
| 318 | D→Y | missense_variant | gnomAD | — | 6.85e-07 | damaging | ambiguous (0.41) | -7.79 | chr3-3147689-G-T |
| 318 | D→A | missense_variant | gnomAD | — | 6.85e-07 | damaging | ambiguous (0.40) | -8.79 | chr3-3147690-A-C |
| 318 | D→D | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3147691-C-T |
| 318 | D→G | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.51) | -7.98 | ClinVar:1516287 |
| 318 | D→Y | missense_variant | COSMIC | — | — | damaging | ambiguous (0.41) | -7.79 | COSV51639814 |
| 319 | F→V | missense_variant | gnomAD | — | 3.91e-05 | — | likely_benign (0.19) | -5.55 | chr3-3147692-T-G |
| 319 | F→S | missense_variant | gnomAD | — | 1.37e-06 | — | ambiguous (0.55) | -6.80 | chr3-3147693-T-C |
| 319 | F→F | synonymous_variant | gnomAD | — | 7.54e-06 | — | — | 0.00 | chr3-3147694-C-T |
| 319 | F→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -5.55 | ClinVar:659739 |
| 319 | F→F | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1940380 |
| 321 | I→V | missense_variant | gnomAD | — | 2.06e-06 | — | likely_benign (0.07) | -1.87 | chr3-3147698-A-G |
| 321 | I→T | missense_variant | gnomAD | — | 6.86e-07 | — | likely_benign (0.08) | -5.00 | chr3-3147699-T-C |
| 321 | — | frameshift_variant | gnomAD | — | 3.43e-06 | LoF | — | — | chr3-3147699-TAGATGTA-T |
| 321 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3147700-AGATGTAAGTATAT-A |
| 321 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1370253 |
| 321 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1458074 |
| 321 | I→K | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.55) | -11.66 | ClinVar:1392639 |
| 321 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.87 | ClinVar:2135719 |
| 322 | D→H | missense_variant | gnomAD | — | 3.43e-06 | damaging | likely_pathogenic (0.72) | -9.37 | chr3-3147701-G-C |
| 322 | D→D | synonymous_variant | gnomAD | — | 6.87e-07 | — | — | 0.00 | chr3-3147703-T-C |
| 322 | D→E | missense_variant | gnomAD | — | 6.87e-07 | — | ambiguous (0.51) | -5.46 | chr3-3147703-T-G |
| 322 | — | frameshift_variant | gnomAD | — | 2.47e-05 | LoF | — | — | chr3-3147703-T-TGTAA |
| 322 | — | frameshift_variant | ClinVar | Conflicting classifications of pathogenicity | — | LoF | — | — | ClinVar:546925 |
| 322 | D→H | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.72) | -9.37 | ClinVar:1041991 |
| 323 | S→T | missense_variant | gnomAD | — | 6.86e-07 | — | likely_benign (0.08) | -3.87 | chr3-3147906-T-A |
| 323 | S→F | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.19) | -4.65 | chr3-3147907-C-T |
| 324 | R→G | missense_variant | gnomAD | — | 2.06e-06 | damaging | ambiguous (0.51) | -7.51 | chr3-3147909-A-G |
| 324 | R→K | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.16) | -1.19 | chr3-3147910-G-A |
| 324 | R→R | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3716430 |
| 325 | E→A | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.22) | -6.55 | chr3-3147913-A-C |
| 326 | P→S | missense_variant | gnomAD | — | 6.85e-06 | — | likely_benign (0.08) | 0.36 | chr3-3147915-C-T |
| 326 | P→R | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.13) | -3.60 | chr3-3147916-C-G |
| 326 | P→P | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3147917-T-G |
| 326 | P→S | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | — | likely_benign (0.08) | 0.36 | ClinVar:662543 |
| 326 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2696296 |
| 326 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV106082164 |
| 327 | D→N | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.08) | -0.94 | chr3-3147918-G-A |
| 327 | D→A | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.11) | -2.62 | chr3-3147919-A-C |
| 327 | D→E | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.12) | -1.43 | chr3-3147920-T-G |
| 327 | D→G | missense_variant | COSMIC | — | — | — | likely_benign (0.11) | -1.95 | COSV51639884 |
| 328 | A→T | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | -1.34 | chr3-3147921-G-A |
| 328 | A→P | missense_variant | gnomAD | — | 6.85e-07 | — | ambiguous (0.40) | -3.81 | chr3-3147921-G-C |
| 328 | A→G | missense_variant | gnomAD | — | 2.67e-05 | — | likely_benign (0.11) | -3.75 | chr3-3147922-C-G |
| 328 | A→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.75 | ClinVar:1428010 |
| 328 | A→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -2.03 | ClinVar:3711907 |
| 329 | T→A | missense_variant | gnomAD | — | 5.48e-06 | — | likely_benign (0.06) | 0.33 | chr3-3147924-A-G |
| 329 | T→I | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.07) | -0.14 | chr3-3147925-C-T |
| 329 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147926-T-G |
| 329 | T→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | 0.33 | ClinVar:3183161 |
| 330 | T→A | missense_variant | gnomAD | — | 6.16e-06 | — | likely_benign (0.06) | 0.77 | chr3-3147927-A-G |
| 330 | T→S | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.07) | 1.23 | chr3-3147927-A-T |
| 330 | T→I | missense_variant | gnomAD | — | 2.87e-05 | — | likely_benign (0.08) | -0.95 | chr3-3147928-C-T |
| 330 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147929-T-C |
| 330 | T→T | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147929-T-G |
| 330 | T→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -0.95 | ClinVar:542065 |
| 330 | T→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | 1.23 | ClinVar:1722307 |
| 330 | T→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | 0.77 | ClinVar:2161280 |
| 331 | R→C | missense_variant | gnomAD | — | 1.37e-05 | — | likely_benign (0.19) | -6.83 | chr3-3147930-C-T |
| 331 | R→H | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.16) | -6.83 | chr3-3147931-G-A |
| 331 | R→C | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -6.83 | ClinVar:647360 |
| 331 | R→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -6.83 | ClinVar:957543 |
| 331 | R→L | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.24) | -6.08 | ClinVar:1361469 |
| 331 | R→C | missense_variant | COSMIC | — | — | — | likely_benign (0.19) | -6.83 | COSV107225632 |
| 331 | R→H | missense_variant | COSMIC | — | — | — | likely_benign (0.16) | -6.83 | COSV51641809 |
| 332 | V→L | missense_variant | gnomAD | — | 2.74e-06 | — | likely_benign (0.30) | -5.43 | chr3-3147933-G-T |
| 332 | V→V | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147935-A-G |
| 333 | C→S | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.14) | -4.46 | chr3-3147937-G-C |
| 333 | C→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.14) | -4.46 | ClinVar:962794 |
| 334 | E→D | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.88) | -8.75 | chr3-3147941-A-C |
| 334 | E→D | missense_variant | ClinVar | Likely pathogenic | — | damaging | likely_pathogenic (0.88) | -8.75 | ClinVar:3691193 |
| 335 | L→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.14) | -4.50 | chr3-3147942-C-G |
| 335 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147942-C-T |
| 335 | L→P | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.99) | -11.65 | chr3-3147943-T-C |
| 335 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147944-A-G |
| 335 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147944-AC-A |
| 336 | L→L | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3147947-G-A |
| 336 | L→L | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51643019 |
| 337 | K→K | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147950-G-A |
| 338 | Y→C | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.76) | -6.86 | COSV51640124 |
| 339 | Q→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.12) | -1.80 | chr3-3147955-A-G |
| 339 | Q→Q | synonymous_variant | gnomAD | — | 4.10e-06 | — | — | 0.00 | chr3-3147956-A-G |
| 339 | Q→Q | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2775608 |
| 340 | G→R | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.48) | -6.14 | chr3-3147957-G-C |
| 340 | G→G | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147959-A-G |
| 340 | G→G | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1578527 |
| 341 | E→G | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.25) | -7.35 | chr3-3147961-A-G |
| 341 | E→D | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.21) | -2.52 | chr3-3147962-G-T |
| 341 | E→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.25) | -7.35 | ClinVar:1437878 |
| 342 | H→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -2.50 | chr3-3147963-C-T |
| 342 | H→R | missense_variant | gnomAD | — | 1.16e-05 | — | likely_benign (0.06) | -0.33 | chr3-3147964-A-G |
| 342 | H→H | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3147965-C-T |
| 343 | C→Y | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.07) | -0.84 | chr3-3147967-G-A |
| 343 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147967-G-GTCTC |
| 343 | C→Y | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -0.84 | ClinVar:3461963 |
| 343 | C→S | missense_variant | COSMIC | — | — | — | likely_benign (0.06) | 3.54 | COSV51640208 |
| 344 | L→F | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.16) | -5.32 | chr3-3147969-C-T |
| 344 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147969-CT-C |
| 344 | L→H | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_benign (0.24) | -7.76 | chr3-3147970-T-A |
| 344 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3147971-C-T |
| 344 | — | inframe_deletion | gnomAD | — | 6.84e-07 | — | — | — | chr3-3147971-CCTA-C |
| 345 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147972-C-T |
| 345 | L→L | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3147974-A-G |
| 345 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1543650 |
| 346 | K→E | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | -1.73 | chr3-3147975-A-G |
| 346 | K→T | missense_variant | gnomAD | — | 8.21e-06 | — | likely_benign (0.09) | -1.15 | chr3-3147976-A-C |
| 347 | E→Q | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -1.47 | chr3-3147978-G-C |
| 347 | E→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.16) | -6.18 | chr3-3147979-A-T |
| 347 | E→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -6.18 | ClinVar:1434044 |
| 347 | E→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -1.47 | ClinVar:4540833 |
| 348 | M→T | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.63) | -5.60 | chr3-3147982-T-C |
| 348 | M→I | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.33) | 0.38 | chr3-3147983-G-A |
| 349 | Q→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147984-C-T |
| 349 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.28 | ClinVar:2063087 |
| 350 | Q→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147987-C-T |
| 350 | Q→Q | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3147989-G-A |
| 350 | Q→H | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -2.34 | ClinVar:4191543 |
| 351 | W→R | missense_variant | gnomAD | — | 6.16e-06 | damaging | likely_pathogenic (0.91) | -8.75 | chr3-3147990-T-C |
| 351 | — | frameshift_variant | gnomAD | — | 2.05e-06 | LoF | — | — | chr3-3147990-TG-T |
| 351 | W→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147991-G-A |
| 351 | W→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3147992-G-A |
| 351 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:157618 |
| 351 | W→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.91) | -8.75 | ClinVar:2604090 |
| 351 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2876292 |
| 352 | S→P | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.18) | -3.19 | chr3-3147993-T-C |
| 352 | S→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -5.88 | chr3-3147994-C-A |
| 352 | S→S | synonymous_variant | gnomAD | — | 4.10e-06 | — | — | 0.00 | chr3-3147995-C-T |
| 352 | S→P | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.18) | -3.19 | ClinVar:1448526 |
| 352 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2417148 |
| 352 | S→Y | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -5.88 | ClinVar:4633680 |
| 354 | P→S | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.34) | -6.53 | chr3-3147999-C-T |
| 354 | P→L | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.21) | -6.31 | chr3-3148000-C-T |
| 354 | P→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.26) | -7.49 | ClinVar:2614539 |
| 354 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51642122 |
| 355 | P→A | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.06) | 0.12 | chr3-3148002-C-G |
| 355 | P→P | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3148004-A-G |
| 355 | P→P | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:772986 |
| 355 | P→P | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214075 |
| 356 | F→C | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.83) | -7.24 | chr3-3148006-T-G |
| 356 | F→S | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.97) | -9.05 | COSV107225646 |
| 357 | P→S | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (0.86) | -5.21 | chr3-3148008-C-T |
| 357 | P→L | missense_variant | gnomAD | — | 2.05e-06 | damaging | likely_pathogenic (0.73) | -6.39 | chr3-3148009-C-T |
| 357 | — | frameshift_variant | gnomAD | — | 4.10e-06 | LoF | — | — | chr3-3148010-T-TGTAA |
| 357 | P→H | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.89) | -8.11 | COSV108755804 |
| 358 | V→I | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.08) | -2.57 | chr3-3148011-G-A |
| 358 | V→L | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.38) | -3.57 | chr3-3148011-G-C |
| 358 | V→L | missense_variant | gnomAD | — | 6.84e-07 | — | ambiguous (0.38) | -3.57 | chr3-3148011-G-T |
| 358 | — | inframe_insertion | gnomAD | — | 3.42e-06 | — | — | — | chr3-3148012-T-TAAG |
| 358 | V→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | -2.57 | ClinVar:1395645 |
| 358 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2104306 |
| 358 | V→V | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214092 |
| 359 | S→S | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3148016-T-C |
| 359 | S→S | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:2153340 |
| 360 | G→S | missense_variant | gnomAD | — | 3.42e-06 | damaging | likely_pathogenic (0.79) | -11.25 | chr3-3148017-G-A |
| 360 | G→G | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3148019-C-T |
| 360 | G→C | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.94) | -13.37 | COSV51642605 |
| 360 | G→G | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51642429 |
| 361 | H→Y | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.17) | -6.24 | chr3-3148020-C-T |
| 361 | H→R | missense_variant | gnomAD | — | 1.37e-06 | damaging | ambiguous (0.39) | -8.06 | chr3-3148021-A-G |
| 361 | H→N | missense_variant | COSMIC | — | — | — | likely_benign (0.30) | -6.24 | COSV99213996 |
| 362 | D→E | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.66) | -4.99 | chr3-3148025-C-G |
| 362 | D→D | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148025-C-T |
| 362 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3148025-CATCAGAA-C |
| 362 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1075271 |
| 362 | D→N | missense_variant | COSMIC | — | — | — | ambiguous (0.43) | -6.42 | COSV104572161 |
| 363 | I→N | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.97) | -12.25 | ClinVar:2144615 |
| 363 | I→F | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.43) | -3.31 | ClinVar:3708241 |
| 364 | R→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.97) | -7.47 | ClinVar:1062306 |
| 364 | R→R | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3704734 |
| 365 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.18) | -6.58 | ClinVar:1063018 |
| 366 | V→V | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148037-G-A |
| 366 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1417619 |
| 366 | V→A | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | 1.33 | ClinVar:2830235 |
| 366 | V→A | missense_variant | COSMIC | — | — | — | likely_benign (0.06) | 1.33 | COSV99214095 |
| 367 | G→A | missense_variant | gnomAD | — | 4.10e-06 | damaging | ambiguous (0.51) | -8.31 | chr3-3148039-G-C |
| 367 | G→A | missense_variant | ClinVar | Uncertain significance | — | damaging | ambiguous (0.51) | -8.31 | ClinVar:1348199 |
| 368 | I→M | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.13) | -3.65 | chr3-3148043-T-G |
| 368 | I→N | missense_variant | COSMIC | — | — | damaging | ambiguous (0.45) | -8.48 | COSV99214109 |
| 370 | S→P | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.24) | -6.38 | chr3-3148047-T-C |
| 370 | S→L | missense_variant | gnomAD | — | 6.84e-06 | damaging | likely_benign (0.19) | -8.00 | chr3-3148048-C-T |
| 370 | S→S | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV99214175 |
| 371 | — | frameshift_variant | gnomAD | — | 2.74e-06 | LoF | — | — | chr3-3148050-G-GGAAAA |
| 371 | — | frameshift_variant | gnomAD | — | 1.51e-05 | LoF | — | — | chr3-3148051-G-GAA |
| 371 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148051-GA-G |
| 371 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:1377011 |
| 372 | K→E | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.75) | -9.31 | chr3-3148053-A-G |
| 372 | K→R | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.09) | -2.65 | chr3-3148054-A-G |
| 372 | K→K | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3148055-A-G |
| 372 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -2.65 | ClinVar:2188778 |
| 373 | E→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148056-G-T |
| 374 | I→T | missense_variant | gnomAD | — | 4.10e-06 | — | ambiguous (0.38) | -5.37 | chr3-3148060-T-C |
| 374 | I→I | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148061-T-A |
| 374 | I→M | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -2.94 | chr3-3148061-T-G |
| 374 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148061-TG-T |
| 374 | I→T | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.38) | -5.37 | ClinVar:946688 |
| 375 | G→R | missense_variant | gnomAD | — | 4.79e-06 | damaging | likely_pathogenic (0.94) | -7.21 | chr3-3148062-G-A |
| 375 | G→R | missense_variant | gnomAD | — | 2.74e-06 | damaging | likely_pathogenic (0.94) | -7.21 | chr3-3148062-G-C |
| 375 | G→W | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.95) | -11.06 | chr3-3148062-G-T |
| 375 | G→E | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.99) | -11.24 | chr3-3148063-G-A |
| 375 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.94) | -7.21 | ClinVar:2191971 |
| 375 | G→R | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.94) | -7.21 | ClinVar:2047880 |
| 375 | G→G | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:4728314 |
| 375 | G→A | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.63) | -7.62 | COSV108021426 |
| 376 | A→V | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.07) | 2.56 | chr3-3148066-C-T |
| 376 | A→A | synonymous_variant | gnomAD | — | 6.84e-06 | — | — | 0.00 | chr3-3148067-T-G |
| 376 | A→A | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3687897 |
| 377 | L→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.07) | 0.25 | chr3-3148068-C-G |
| 377 | L→L | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3148068-C-T |
| 377 | L→P | missense_variant | gnomAD | — | 8.21e-06 | damaging | likely_pathogenic (0.88) | -9.85 | chr3-3148069-T-C |
| 377 | L→L | synonymous_variant | gnomAD | — | 3.42e-06 | — | — | 0.00 | chr3-3148070-A-C |
| 377 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3148070-A-G |
| 377 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1673544 |
| 378 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148071-T-C |
| 378 | L→V | missense_variant | gnomAD | — | 1.37e-06 | — | ambiguous (0.37) | -6.01 | chr3-3148071-T-G |
| 378 | — | inframe_insertion | gnomAD | — | 1.37e-06 | — | — | — | chr3-3148072-T-TACA |
| 378 | — | inframe_insertion | ClinVar | Uncertain significance | — | — | — | — | ClinVar:1350217 |
| 378 | L→S | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.95) | -8.73 | ClinVar:2119545 |
| 379 | Q→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.19) | -5.56 | chr3-3148074-C-A |
| 379 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148074-C-CAA |
| 379 | — | frameshift_variant | gnomAD | — | 3.42e-06 | LoF | — | — | chr3-3148074-C-CAACA |
| 379 | Q→E | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.20) | -7.28 | chr3-3148074-C-G |
| 379 | Q→Q | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148076-A-G |
| 379 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.20) | -7.28 | ClinVar:2145991 |
| 380 | Q→R | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.10) | -2.41 | chr3-3148078-A-G |
| 380 | Q→* | stop_gained | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:2834290 |
| 381 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148080-T-C |
| 381 | L→W | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.80) | -10.24 | chr3-3148081-T-G |
| 381 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148082-G-A |
| 382 | R→R | synonymous_variant | gnomAD | — | 2.74e-06 | — | — | 0.00 | chr3-3148083-C-A |
| 382 | R→G | missense_variant | gnomAD | — | 1.37e-06 | damaging | likely_pathogenic (0.89) | -9.07 | chr3-3148083-C-G |
| 382 | R→* | stop_gained | gnomAD | — | 1.44e-05 | LoF | — | — | chr3-3148083-C-T |
| 382 | R→Q | missense_variant | gnomAD | — | 6.16e-06 | — | ambiguous (0.37) | -6.69 | chr3-3148084-G-A |
| 382 | R→R | synonymous_variant | gnomAD | — | 2.05e-06 | — | — | 0.00 | chr3-3148085-A-G |
| 382 | R→R | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1088326 |
| 382 | R→Q | missense_variant | ClinVar | Uncertain significance | — | — | ambiguous (0.37) | -6.69 | ClinVar:1443253 |
| 382 | R→* | stop_gained | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:2157768 |
| 382 | R→Q | missense_variant | COSMIC | — | — | — | ambiguous (0.37) | -6.69 | COSV51639821 |
| 382 | R→L | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.85) | -8.69 | COSV99214034 |
| 383 | E→K | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.16) | -6.01 | chr3-3148086-G-A |
| 383 | E→Q | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.12) | -4.32 | chr3-3148086-G-C |
| 383 | E→D | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.09) | -0.34 | chr3-3148088-A-C |
| 383 | E→K | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.16) | -6.01 | ClinVar:1961815 |
| 383 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:3717208 |
| 383 | E→E | synonymous_variant | COSMIC | — | — | — | — | 0.00 | COSV51642827 |
| 384 | Q→K | missense_variant | gnomAD | — | 4.11e-06 | — | likely_benign (0.09) | 0.33 | chr3-3148089-C-A |
| 384 | Q→E | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.07) | 1.98 | chr3-3148089-C-G |
| 384 | Q→* | stop_gained | gnomAD | — | 2.74e-06 | LoF | — | — | chr3-3148089-C-T |
| 384 | Q→R | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.09) | -1.58 | chr3-3148090-A-G |
| 384 | Q→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | 1.98 | ClinVar:836921 |
| 385 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148092-T-TG |
| 385 | W→* | stop_gained | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148093-G-A |
| 385 | — | frameshift_variant | gnomAD | — | 2.48e-04 | LoF | — | — | chr3-3148094-G-GA |
| 385 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:234933 |
| 385 | — | frameshift_variant | ClinVar | Pathogenic/Likely pathogenic | — | LoF | — | — | ClinVar:234934 |
| 385 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:4728919 |
| 386 | K→E | missense_variant | gnomAD | — | 6.91e-05 | damaging | likely_pathogenic (0.75) | -9.25 | chr3-3148095-A-G |
| 386 | K→E | missense_variant | ClinVar | Pathogenic/Likely pathogenic | — | damaging | likely_pathogenic (0.75) | -9.25 | ClinVar:963695 |
| 386 | K→R | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.17) | -5.81 | ClinVar:1409932 |
| 386 | K→Q | missense_variant | COSMIC | — | — | damaging | ambiguous (0.44) | -9.06 | COSV108755785 |
| 386 | K→E | missense_variant | COSMIC | — | — | damaging | likely_pathogenic (0.75) | -9.25 | COSV51642664 |
| 387 | K→E | missense_variant | gnomAD | — | 2.05e-06 | — | likely_benign (0.11) | -3.08 | chr3-3148098-A-G |
| 387 | K→T | missense_variant | gnomAD | — | 6.16e-06 | — | likely_benign (0.12) | -2.50 | chr3-3148099-A-C |
| 387 | K→R | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.08) | -2.04 | chr3-3148099-A-G |
| 387 | K→E | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.08 | ClinVar:1413150 |
| 387 | K→T | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.12) | -2.50 | ClinVar:3715480 |
| 387 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51640194 |
| 388 | S→G | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.15) | -4.62 | chr3-3148101-A-G |
| 388 | — | frameshift_variant | ClinVar | Pathogenic | — | LoF | — | — | ClinVar:1452239 |
| 388 | S→C | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.19) | -4.68 | ClinVar:2334155 |
| 388 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV99214371 |
| 389 | G→G | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148106-T-C |
| 389 | G→R | missense_variant | COSMIC | — | — | — | likely_benign (0.14) | -0.03 | COSV51641107 |
| 390 | Y→C | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.28) | -4.94 | chr3-3148108-A-G |
| 390 | Y→Y | synonymous_variant | gnomAD | — | 6.16e-06 | — | — | 0.00 | chr3-3148109-C-T |
| 390 | Y→* | stop_gained | ClinVar | Uncertain significance | — | LoF | — | — | ClinVar:2054727 |
| 391 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3148111-A-AAGTGGAAAAAAAGTGGTTACCC |
| 392 | M→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.15) | -4.69 | chr3-3148113-A-G |
| 393 | E→D | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.06) | -1.63 | chr3-3148118-A-C |
| 393 | E→E | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148118-A-G |
| 393 | E→D | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -1.63 | ClinVar:933361 |
| 394 | K→R | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.10) | -3.34 | chr3-3148120-A-G |
| 394 | — | frameshift_variant | COSMIC | — | — | LoF | — | — | COSV51641095 |
| 395 | D→G | missense_variant | gnomAD | — | 9.58e-06 | — | likely_benign (0.09) | -2.59 | chr3-3148123-A-G |
| 395 | D→V | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.11) | -4.58 | chr3-3148123-A-T |
| 395 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148124-T-TG |
| 395 | D→G | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.09) | -2.59 | ClinVar:964278 |
| 395 | D→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -4.58 | ClinVar:1516495 |
| 396 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148125-G-GAACT |
| 396 | E→D | missense_variant | gnomAD | — | 5.47e-06 | — | likely_benign (0.10) | -2.21 | chr3-3148127-A-C |
| 396 | E→D | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.10) | -2.21 | ClinVar:846912 |
| 396 | E→Q | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.11) | -3.09 | ClinVar:1998187 |
| 396 | — | inframe_insertion | ClinVar | Uncertain significance | — | — | — | — | ClinVar:2067020 |
| 396 | E→E | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:3630357 |
| 396 | E→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV51640643 |
| 397 | L→V | missense_variant | gnomAD | — | 6.84e-07 | damaging | ambiguous (0.36) | -7.61 | chr3-3148128-C-G |
| 397 | L→R | missense_variant | gnomAD | — | 6.84e-07 | damaging | likely_pathogenic (0.95) | -12.43 | chr3-3148129-T-G |
| 397 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148130-T-A |
| 397 | L→L | synonymous_variant | gnomAD | — | 6.84e-07 | — | — | 0.00 | chr3-3148130-T-G |
| 397 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1604268 |
| 398 | — | frameshift_variant | gnomAD | — | 1.37e-06 | LoF | — | — | chr3-3148131-C-CTGAG |
| 398 | L→L | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3148131-C-T |
| 398 | — | frameshift_variant | gnomAD | — | 3.42e-06 | LoF | — | — | chr3-3148133-G-GAGTT |
| 398 | — | frameshift_variant | ClinVar | Uncertain significance | — | LoF | — | — | ClinVar:969338 |
| 398 | L→P | missense_variant | ClinVar | Uncertain significance | — | damaging | likely_pathogenic (0.93) | -11.40 | ClinVar:1444229 |
| 398 | L→L | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1656179 |
| 399 | S→I | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.13) | -4.35 | ClinVar:1368902 |
| 400 | Y→C | missense_variant | gnomAD | — | 3.42e-06 | — | likely_benign (0.06) | -1.22 | chr3-3148138-A-G |
| 400 | Y→F | missense_variant | gnomAD | — | 4.79e-06 | — | likely_benign (0.06) | -1.55 | chr3-3148138-A-T |
| 400 | Y→F | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.06) | -1.55 | ClinVar:1426719 |
| 400 | — | frameshift_variant | ClinVar | Uncertain significance | — | LoF | — | — | ClinVar:2102284 |
| 401 | I→L | missense_variant | gnomAD | — | 6.84e-07 | — | likely_benign (0.08) | -2.34 | chr3-3148140-A-C |
| 401 | I→V | missense_variant | gnomAD | — | 2.48e-04 | — | likely_benign (0.07) | -1.00 | chr3-3148140-A-G |
| 401 | I→T | missense_variant | gnomAD | — | 5.62e-04 | — | likely_benign (0.28) | -5.34 | chr3-3148141-T-C |
| 401 | — | frameshift_variant | gnomAD | — | 6.84e-07 | LoF | — | — | chr3-3148141-TAAAG-T |
| 401 | I→I | synonymous_variant | gnomAD | — | 1.37e-06 | — | — | 0.00 | chr3-3148142-A-T |
| 401 | — | inframe_deletion | gnomAD | — | 2.05e-06 | — | — | — | chr3-3148142-AAAG-A |
| 401 | I→T | missense_variant | ClinVar | Conflicting classifications of pathogenicity | — | — | likely_benign (0.28) | -5.34 | ClinVar:542066 |
| 401 | — | inframe_deletion | ClinVar | Uncertain significance | — | — | — | — | ClinVar:644524 |
| 401 | I→V | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.07) | -1.00 | ClinVar:947843 |
| 402 | K→Q | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.09) | -1.85 | chr3-3148143-A-C |
| 402 | K→K | synonymous_variant | gnomAD | — | 6.85e-07 | — | — | 0.00 | chr3-3148145-G-A |
| 402 | K→K | synonymous_variant | ClinVar | Likely benign | — | — | — | 0.00 | ClinVar:1589431 |
| 402 | K→N | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.24) | -1.88 | ClinVar:2090053 |
| 402 | K→* | stop_gained | COSMIC | — | — | LoF | — | — | COSV104572167 |
| 402 | K→N | missense_variant | COSMIC | — | — | — | likely_benign (0.24) | -1.88 | COSV105853708 |
| 403 | — | inframe_insertion | gnomAD | — | 6.85e-07 | — | — | — | chr3-3148147-A-AGAC |
| 403 | K→T | missense_variant | gnomAD | — | 1.37e-06 | — | likely_benign (0.11) | 0.00 | chr3-3148147-A-C |
| 403 | K→R | missense_variant | gnomAD | — | 1.23e-05 | — | likely_benign (0.07) | -1.17 | chr3-3148147-A-G |
| 403 | K→N | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.14) | -0.58 | chr3-3148148-G-T |
| 404 | T→S | missense_variant | gnomAD | — | 2.06e-06 | — | likely_benign (0.08) | 0.78 | chr3-3148149-A-T |
| 404 | T→N | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.08) | -0.28 | chr3-3148150-C-A |
| 404 | T→S | missense_variant | gnomAD | — | 6.85e-07 | — | likely_benign (0.08) | 0.78 | chr3-3148150-C-G |
| 404 | T→S | missense_variant | ClinVar | Uncertain significance | — | — | likely_benign (0.08) | 0.78 | ClinVar:1707207 |
1502 variants in the shared canonical core.
LoF = frameshift / stop-gain / splice-disrupting — inherently loss-of-function, flagged by consequence (AlphaMissense and ESM-C score only missense/substitutions, so they are blank here by design, not by absence of impact). AlphaMissense is computed in the canonical reading frame, so it scores the shared core but reads N/A across an isoform-unique extension — use ESM-C ΔLLR there.