SwissIsoform v2

EIF2B1 · ENST00000424014.7

EXTENDED 334 aa (canonical 305 aa) · UniProt Q14232 · CDLMPS

chr12:123633644:-:CTG:ENST00000424014.7

AI summary A confidently-folded but structurally unanchored, arginine-rich extension adds bulk without displacing eIF2Bα's known regulatory architecture.
How it diverges

The 30-aa N-terminal extension folds with high local pLDDT (~0.86) and even forms a short strand, but PAE between this element and the rest of the protein is very high (~27 Å mean), meaning its placement relative to the eIF2Bα core is essentially unresolved rather than a confidently docked new element. No InterPro domain is gained or lost, and the shared-core RMSD (1.74 Å) is not supported as genuine refolding given high shared-region pLDDT and pTM — so the catalytic/regulatory core that binds phospho-eIF2α and forms the decamer bridge appears structurally unperturbed. The DeepLoc cytoplasm-only call versus the canonical's dual cytoplasm/nucleus call is also too close in probability (0.57 vs 0.52) to trust as a real relocalization.

Why it matters

eIF2Bα's known function depends on its N-terminal region docking phospho-eIF2α and bridging the two (βγδε) tetramers into the active decamer; because the added segment is not confidently integrated into the fold (high inter-region PAE) and leaves the shared core, domain content, and biophysical profile essentially intact, there is no clear structural basis to expect this extension to alter phospho-eIF2α docking, decamer bridging, or the sugar-phosphate allosteric pocket. The extension's charge/disorder enrichment does not reach a whole-protein biophysical shift threshold, so it does not obviously change the protein's global regulatory behavior as described in the literature.

Structured N-terminal extension
LLM confidence low

The extension itself is poorly conserved beyond primates and shows no coding-selection signal, and the localization and core-fold RMSD calls are both below confidence thresholds needed to assert a real functional interaction; germline/disease variant signals in the unique region are uninterpretable here since this segment was non-coding in the canonical transcript.

Folding

Canonical (305 aa)
Download CIF
Isoform (334 aa)
Download CIF
Coloured by ESMFold2 pLDDT confidence (blue = high, orange/red = low). Differential region — residues 1–29 (added in isoform) — 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 Not interesting
LLM reasoning
The N-terminal extension added by this isoform shows conservation that decays sharply with evolutionary depth and no absolute purifying-selection signal: primate amino-acid identity is a modest 81.8% (versus 98.8% for the canonical protein over the same span), and this drops to just 46.7% in mammals (versus 95.9% canonical), with reading-frame intactness collapsing from 88% of primate species to only 20% of mammalian species. PhyloP over the unique region is essentially flat at -0.10, far below the ~2.0 threshold for strong constraint, in contrast to the shared canonical region's phyloP of 3.62. Together this pattern — moderate primate similarity that fails to hold in deeper mammalian lineages, plus no absolute constraint signal — argues the added arginine-rich N-terminal segment is not under strong purifying selection and is likely a primate-specific or lineage-restricted addition rather than a deeply conserved functional extension.
Unique region 81.8% similar across primates
Unique region 46.7% similar across mammals
Unique region PhyloP: -0.10 — neutral selection
D Detection Interesting
LLM reasoning
This N-terminal extension is genuinely translated and produces detectable protein, not just a computational artifact. The alternative TIS is reproducibly used across all six cell lines tested (p-values from 3.6e-8 to 3.9e-10), giving strong reproducibility. Initiation efficiency reaches 0.099 in HeLa and is roughly a fifth of the canonical start's usage in cell lines with a direct comparator, indicating this is a real, actively used alternative start rather than background noise. Most decisively, mass spec independently confirms the extension at the protein level: two of three isoform-unique peptides spanning the differential region (including one crossing directly through the added N-terminal sequence into the shared region) were PepQuery2-validated with strong hyperscores (32.8 and 41.5) and low p-values, directly demonstrating the extended protein product exists in vivo.
detected in 6/6 cell lines
alt used 0.19× vs canonical
2/3 isoform-unique peptides validated
L Localization Neutral
LLM reasoning
The N-terminal extension (a highly basic, arginine-rich 30-aa segment) is predicted to shift DeepLoc localization from a dual Cytoplasm/Nucleus call to Cytoplasm-only, with loss of the nuclear export signal call (canonical retains both NLS and NES; isoform keeps only NLS) but no membrane-association change. However, the top-class probabilities are weak and similar in both cases (canonical top prob 0.70, isoform 0.57; isoform's own nucleus probability of 0.52 is nearly tied with its cytoplasm probability of 0.57), so this looks like a marginal call flip rather than a confident relocalization. No secretory or mitochondrial/chloroplast targeting signal is gained or lost (both canonical and isoform are noTP, with SignalP prediction unchanged and probability deltas near zero). Given the low-confidence, borderline nature of the compartment shift and the complete absence of any targeting-peptide change, the combined localization evidence is too weak and equivocal to call this a clear signal.
iso: Cytoplasm | canon: Cytoplasm, Nucleus
iso: noTP | canon: noTP
M Mutation Landscape Not interesting
LLM reasoning
This is an N-terminal extension where the added 30-residue segment was never coding (intron/UTR), so the germline constraint signals are uninterpretable by construction and the only readable member is disease-variant density — which is quiet. Disease-variant density is depleted in the unique region (enrichment ratio 0.37) and zero of 33 pathogenic ClinVar calls fall there; of only 2 ClinVar records overlapping the unique region at all, one is "Likely benign" and one "Uncertain significance," both annotated as intronic consequences (not missense), confirming the region simply hasn't been coding in the reference frame these databases assess. The 30 pathogenic variants present on the isoform all sit in the shared canonical region (isoform positions 37-306) and are diffusely spread, not clustered near the alternative start codon (frac_in_top10_positions = 0.33). No evidence supports functional consequence of this extension in the disease-variant dimension.
gnomAD variants 2.54× more in unique region — tolerant
Disease variants 2.69× less in unique region — depleted
P Predicted Structure Neutral
LLM reasoning
The 30-residue N-terminal extension folds confidently overall (per-residue pLDDT mean 0.865, min 0.732, no disordered stretch) and contains a qualifying 9-residue strand (pLDDT 0.79) rather than pure coil. However this element is not confidently integrated with the core: PAE between the strand (residues 2-10) and the rest of the isoform averages 27.4 Å (min 21.5 Å), indicating its orientation relative to the body is essentially unresolved despite decent local confidence. Contacts are sparse (15 contacts, 8 partner residues, mostly near residues 31-35 and 62-67) and given the high PAE these are not trustworthy evidence of a real interface. The shared-core RMSD (1.74 Å, TM-score 0.97) is modest and backed by high shared-region pLDDT (~0.94) and solid pTM (0.90 isoform / 0.96 canonical), so it reads as noise rather than genuine core remodeling. Net: a locally well-folded but functionally unanchored extension with no clear structural signal in either direction.
pLDDT Differential Region: 0.863
Shared-Region RMSD: 1.74 Å
1 secondary structure identified in unique region
S Structural Characteristics Neutral
LLM reasoning
No real InterPro domain is gained or lost by this N-terminal extension (only generic MobiDB-lite disorder hits overlap the region), and the whole-protein biophysical shift did not cross threshold on any of the gravy/fraction-charged/disorder deltas (isoform-vs-canonical deltas of -0.18, 0.013, and 0.014 respectively), despite the added 30-aa arginine-rich segment itself being highly enriched for charge, disorder, and low-complexity character relative to the shared core. The sparse-autoencoder magnitude check does fire (top shared-feature shift 11.06 vs threshold 10.0), but this is a single borderline-magnitude signal alongside large gained/lost counts (199/43) that are context only given the length difference between isoforms. Taken together, the category shows a compositionally distinctive added segment but no corroborated domain-level or whole-protein structural-characteristic change, so the joint evidence is mixed rather than a clear signal.
No diverging domains
less hydrophobic (-2.09) · more charged (+0.15) · more disordered (+0.16)
242 SAE features differ

Clinical variants

Differential region — N-terminal extension (isoform-unique)

Pos (iso) AA change Consequence Source Clin. sig. AF (gnomAD) Impact AlphaMissense ESM-C ΔLLR Link
0 L→L synonymous_variant gnomAD — 1.91e-04 — N/A — chr12-123633642-C-T
0 L→P missense_variant gnomAD — 2.09e-06 — N/A — chr12-123633643-A-G
0 L→Q missense_variant gnomAD — 6.97e-07 — N/A — chr12-123633643-A-T
0 L→L synonymous_variant gnomAD — 1.54e-05 — N/A — chr12-123633644-G-A
0 L→V missense_variant gnomAD — 6.99e-07 — N/A — chr12-123633644-G-C
0 L→L synonymous_variant ClinVar Likely benign — — N/A — ClinVar:307531
1 A→A synonymous_variant gnomAD — 6.94e-07 — N/A 0.00 chr12-123633639-A-C
1 A→V missense_variant gnomAD — 1.39e-06 — N/A -1.12 chr12-123633640-G-A
1 A→G missense_variant gnomAD — 6.95e-07 — N/A 0.06 chr12-123633640-G-C
1 A→S missense_variant gnomAD — 2.79e-06 — N/A -0.45 chr12-123633641-C-A
1 A→P missense_variant gnomAD — 6.96e-07 — N/A -0.02 chr12-123633641-C-G
1 A→T missense_variant gnomAD — 1.39e-06 — N/A -0.81 chr12-123633641-C-T
1 A→T missense_variant COSMIC — — — N/A -0.81 COSV99967550
2 R→R synonymous_variant gnomAD — 8.33e-06 — N/A 0.00 chr12-123633636-G-A
2 R→L missense_variant gnomAD — 2.10e-06 — N/A -1.26 chr12-123633637-C-A
2 R→H missense_variant gnomAD — 4.20e-06 — N/A -2.95 chr12-123633637-C-T
2 R→G missense_variant gnomAD — 7.65e-06 — N/A 0.11 chr12-123633638-G-C
2 R→C missense_variant COSMIC — — — N/A -2.66 COSV107211598
3 R→S missense_variant gnomAD — 2.08e-06 — N/A -1.25 chr12-123633633-C-A
3 R→W missense_variant gnomAD — 1.39e-06 — N/A -2.17 chr12-123633635-T-A
3 R→R synonymous_variant gnomAD — 6.95e-07 — N/A 0.00 chr12-123633635-T-G
4 R→R synonymous_variant gnomAD — 6.93e-07 — N/A 0.00 chr12-123633630-C-A
4 R→L missense_variant gnomAD — 6.94e-06 — N/A -1.75 chr12-123633631-C-A
4 R→W missense_variant gnomAD — 1.39e-06 — N/A -2.27 chr12-123633632-G-A
4 R→G missense_variant gnomAD — 2.08e-06 — N/A -0.20 chr12-123633632-G-C
4 R→R synonymous_variant gnomAD — 6.95e-07 — N/A 0.00 chr12-123633632-G-T
5 R→R synonymous_variant gnomAD — 1.39e-06 — N/A 0.00 chr12-123633627-G-A
5 R→R synonymous_variant gnomAD — 6.93e-07 — N/A 0.00 chr12-123633627-G-C
5 R→R synonymous_variant ClinVar Uncertain significance — — N/A 0.00 ClinVar:307530
6 G→G synonymous_variant gnomAD — 6.92e-07 — N/A 0.00 chr12-123633624-G-A
6 G→G synonymous_variant gnomAD — 6.92e-07 — N/A 0.00 chr12-123633624-G-T
6 G→A missense_variant gnomAD — 2.08e-06 — N/A -0.44 chr12-123633625-C-G
6 G→C missense_variant gnomAD — 6.92e-07 — N/A -1.97 chr12-123633626-C-A
6 G→R missense_variant gnomAD — 6.92e-07 — N/A 1.91 chr12-123633626-C-G
7 R→R synonymous_variant gnomAD — 1.38e-06 — N/A 0.00 chr12-123633621-C-T
7 R→L missense_variant gnomAD — 2.98e-05 — N/A -1.38 chr12-123633622-C-A
7 R→P missense_variant gnomAD — 5.54e-06 — N/A -1.09 chr12-123633622-C-G
7 R→Q missense_variant gnomAD — 2.77e-06 — N/A -2.05 chr12-123633622-C-T
7 R→W missense_variant gnomAD — 3.46e-06 — N/A -2.40 chr12-123633623-G-A
7 R→G missense_variant gnomAD — 2.08e-06 — N/A -0.43 chr12-123633623-G-C
7 R→R synonymous_variant gnomAD — 6.92e-07 — N/A 0.00 chr12-123633623-G-T
7 R→W missense_variant COSMIC — — — N/A -2.40 COSV99967645
8 R→R synonymous_variant gnomAD — 3.46e-06 — N/A 0.00 chr12-123633618-C-A
8 R→L missense_variant gnomAD — 6.92e-07 — N/A -1.85 chr12-123633619-C-A
8 R→Q missense_variant gnomAD — 1.04e-05 — N/A -2.12 chr12-123633619-C-T
8 — frameshift_variant gnomAD — 6.92e-07 LoF — — chr12-123633619-CGCCGGCCGCGCCGCCTG-C
8 R→W missense_variant gnomAD — 7.62e-06 — N/A -2.27 chr12-123633620-G-A
8 R→R synonymous_variant gnomAD — 6.92e-07 — N/A 0.00 chr12-123633620-G-T
9 T→T synonymous_variant gnomAD — 1.38e-06 — N/A 0.00 chr12-123633615-G-A
9 T→T synonymous_variant gnomAD — 3.06e-04 — N/A 0.00 chr12-123633615-G-C
9 T→T synonymous_variant gnomAD — 6.91e-07 — N/A 0.00 chr12-123633615-G-T
9 T→S missense_variant gnomAD — 6.91e-07 — N/A 1.73 chr12-123633616-G-C
9 T→S missense_variant gnomAD — 2.07e-06 — N/A 1.73 chr12-123633617-T-A
10 R→H missense_variant gnomAD — 2.07e-06 — N/A -2.47 chr12-123633613-C-T
10 R→G missense_variant gnomAD — 1.52e-05 — N/A -0.22 chr12-123633614-G-C
10 R→S missense_variant gnomAD — 3.45e-06 — N/A -0.77 chr12-123633614-G-T
11 S→S synonymous_variant gnomAD — 6.90e-07 — N/A 0.00 chr12-123633609-C-G
11 S→L missense_variant gnomAD — 2.07e-06 — N/A -0.39 chr12-123633610-G-A
11 S→W missense_variant gnomAD — 2.07e-06 — N/A -0.61 chr12-123633610-G-C
11 S→* stop_gained gnomAD — 1.38e-06 LoF — — chr12-123633610-G-T
11 — frameshift_variant gnomAD — 6.90e-07 LoF — — chr12-123633611-AACGG-A
12 — inframe_deletion gnomAD — 6.89e-07 — N/A — chr12-123633607-CTCG-C
12 R→* stop_gained gnomAD — 7.59e-06 LoF — — chr12-123633608-T-A
13 Q→H missense_variant gnomAD — 1.38e-06 — N/A -0.53 chr12-123633603-C-A
13 Q→Q synonymous_variant gnomAD — 1.38e-06 — N/A 0.00 chr12-123633603-C-T
13 Q→L missense_variant gnomAD — 6.89e-07 — N/A 0.69 chr12-123633604-T-A
13 Q→R missense_variant gnomAD — 2.07e-06 — N/A 2.31 chr12-123633604-T-C
13 Q→E missense_variant gnomAD — 1.86e-05 — N/A 0.52 chr12-123633605-G-C
14 R→R synonymous_variant gnomAD — 6.89e-07 — N/A 0.00 chr12-123633600-G-T
14 R→P missense_variant gnomAD — 6.89e-07 — N/A -0.41 chr12-123633601-C-G
14 R→H missense_variant gnomAD — 6.89e-07 — N/A -2.73 chr12-123633601-C-T
14 R→C missense_variant gnomAD — 7.58e-06 — N/A -2.67 chr12-123633602-G-A
14 R→G missense_variant gnomAD — 6.89e-07 — N/A -0.73 chr12-123633602-G-C
14 R→S missense_variant gnomAD — 6.89e-07 — N/A -1.25 chr12-123633602-G-T
15 G→G synonymous_variant gnomAD — 6.88e-07 — N/A 0.00 chr12-123633597-C-G
15 G→E missense_variant gnomAD — 6.88e-07 — N/A -0.81 chr12-123633598-C-T
15 G→W missense_variant gnomAD — 1.38e-06 — N/A -1.47 chr12-123633599-C-A
15 G→R missense_variant gnomAD — 6.89e-07 — N/A 1.12 chr12-123633599-C-T
16 R→R synonymous_variant gnomAD — 2.75e-06 — N/A 0.00 chr12-123633594-C-A
16 R→R synonymous_variant gnomAD — 6.88e-07 — N/A 0.00 chr12-123633594-C-G
16 — frameshift_variant gnomAD — 6.88e-07 LoF — — chr12-123633595-CG-C
16 R→W missense_variant gnomAD — 9.64e-06 — N/A -2.39 chr12-123633596-G-A
16 — frameshift_variant gnomAD — 6.88e-07 LoF — — chr12-123633596-GC-G
16 R→R synonymous_variant COSMIC — — — N/A 0.00 COSV57459854
17 L→L synonymous_variant gnomAD — 2.06e-06 — N/A 0.00 chr12-123633591-G-A
17 L→L synonymous_variant gnomAD — 6.88e-07 — N/A 0.00 chr12-123633591-G-C
17 L→P missense_variant gnomAD — 1.38e-06 — N/A 1.02 chr12-123633592-A-G
18 G→G synonymous_variant gnomAD — 6.88e-07 — N/A 0.00 chr12-123633588-C-A
18 G→A missense_variant gnomAD — 4.13e-06 — N/A -0.38 chr12-123633589-C-G
18 G→E missense_variant gnomAD — 2.34e-05 — N/A -1.55 chr12-123633589-C-T
18 G→R missense_variant gnomAD — 6.88e-07 — N/A 0.34 chr12-123633590-C-G
18 G→R missense_variant gnomAD — 4.81e-06 — N/A 0.34 chr12-123633590-C-T
19 S→S synonymous_variant gnomAD — 2.06e-06 — N/A 0.00 chr12-123633585-G-T
19 S→F missense_variant gnomAD — 3.23e-05 — N/A -1.92 chr12-123633586-G-A
19 S→C missense_variant gnomAD — 1.37e-06 — N/A -1.83 chr12-123633586-G-C
19 S→Y missense_variant gnomAD — 5.50e-06 — N/A -3.52 chr12-123633586-G-T
19 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123633587-A-AC
19 — frameshift_variant COSMIC — — LoF — — COSV99967506
19 S→F missense_variant COSMIC — — — N/A -1.92 COSV99967583
20 P→P synonymous_variant gnomAD — 1.37e-06 — N/A 0.00 chr12-123633582-A-G
20 — frameshift_variant gnomAD — 6.87e-07 LoF — — chr12-123633582-AG-A
20 P→L missense_variant gnomAD — 2.06e-06 — N/A -0.84 chr12-123633583-G-A
20 P→S missense_variant gnomAD — 1.37e-06 — N/A -0.12 chr12-123633584-G-A
20 P→L missense_variant COSMIC — — — N/A -0.84 COSV106331809
21 G→G synonymous_variant gnomAD — 6.87e-07 — N/A 0.00 chr12-123633579-C-T
21 G→E missense_variant gnomAD — 2.06e-06 — N/A -1.00 chr12-123633580-C-T
21 G→R missense_variant gnomAD — 1.10e-05 — N/A 0.00 chr12-123633581-C-G
21 G→R missense_variant gnomAD — 1.37e-06 — N/A 0.00 chr12-123633581-C-T
22 A→A synonymous_variant gnomAD — 6.86e-07 — N/A 0.00 chr12-123633576-A-C
22 A→V missense_variant gnomAD — 2.06e-06 — N/A -1.41 chr12-123633577-G-A
22 A→P missense_variant gnomAD — 6.87e-07 — N/A -0.22 chr12-123633578-C-G
22 A→T missense_variant gnomAD — 6.87e-07 — N/A -0.95 chr12-123633578-C-T
23 P→P synonymous_variant gnomAD — 6.86e-07 — N/A 0.00 chr12-123633573-C-T
23 P→L missense_variant gnomAD — 1.58e-05 — N/A -0.50 chr12-123633574-G-A
24 Q→H missense_variant gnomAD — 6.86e-07 — N/A -0.95 chr12-123633570-C-A
24 Q→P missense_variant gnomAD — 6.86e-06 — N/A 0.97 chr12-123633571-T-G
24 Q→Q synonymous_variant COSMIC — — — N/A 0.00 COSV57458966
25 Q→Q synonymous_variant gnomAD — 1.37e-06 — N/A 0.00 chr12-123633567-C-T
25 Q→* stop_gained gnomAD — 6.86e-07 LoF — — chr12-123633569-G-A
26 — inframe_deletion gnomAD — 1.37e-06 — N/A — chr12-123633565-TCCTGCTGCGGAGCCCCAGGGGACCCGAGCCGCCCGCGCTGTCTCGAACGGGTCC-T
27 D→D synonymous_variant gnomAD — 4.80e-06 — N/A 0.00 chr12-123633561-G-A
27 D→G missense_variant gnomAD — 6.85e-06 — N/A 1.02 chr12-123633562-T-C
27 D→Y missense_variant gnomAD — 4.80e-06 — N/A -3.08 chr12-123633563-C-A
27 D→N missense_variant gnomAD — 1.37e-06 — N/A -1.36 chr12-123633563-C-T

124 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
29 M→V missense_variant gnomAD — 6.85e-07 — — -6.96 chr12-123633557-T-C
30 D→H missense_variant gnomAD — 6.85e-07 — likely_benign (0.22) -5.42 chr12-123633554-C-G
30 D→N missense_variant gnomAD — 6.85e-07 — likely_benign (0.08) -2.21 chr12-123633554-C-T
31 D→D synonymous_variant gnomAD — 1.78e-05 — — 0.00 chr12-123633549-G-A
31 D→Y missense_variant gnomAD — 1.19e-04 — likely_benign (0.18) -5.67 chr12-123633551-C-A
31 D→H missense_variant gnomAD — 1.16e-05 — likely_benign (0.15) -3.36 chr12-123633551-C-G
31 D→N missense_variant gnomAD — 6.85e-07 — likely_benign (0.08) -1.03 chr12-123633551-C-T
31 D→Y missense_variant ClinVar Uncertain significance — — likely_benign (0.18) -5.67 ClinVar:813657
32 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123633546-C-T
32 — inframe_deletion gnomAD — 6.84e-07 — — — chr12-123633548-TGTC-T
33 E→E synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr12-123632445-C-T
33 E→K missense_variant gnomAD — 1.23e-05 — likely_benign (0.17) -4.77 chr12-123633545-C-T
33 E→K missense_variant ClinVar Uncertain significance — — likely_benign (0.17) -4.77 ClinVar:2176384
33 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2877544
34 L→S missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.77) -4.98 ClinVar:2296169
35 I→T missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) -2.15 chr12-123632440-A-G
35 I→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) 1.15 chr12-123632441-T-C
36 E→* stop_gained COSMIC — — LoF — — COSV106331808
37 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123632433-GTA-G
37 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2874636
37 Y→Y synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3692403
38 F→S missense_variant gnomAD — 6.16e-06 damaging likely_pathogenic (0.97) -9.11 chr12-123632431-A-G
38 F→I missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.87) -8.79 chr12-123632432-A-T
39 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123632427-CTT-C
39 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123632427-CTTAAAGTA-C
39 K→E missense_variant gnomAD — 4.79e-06 — likely_benign (0.10) -3.16 chr12-123632429-T-C
39 — frameshift_variant gnomAD — 6.85e-07 LoF — — chr12-123632429-T-TA
39 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2962147
40 S→F missense_variant gnomAD — 1.37e-06 — likely_benign (0.13) -3.95 chr12-123632425-G-A
40 S→C missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -3.64 chr12-123632425-G-C
41 Q→H missense_variant gnomAD — 6.57e-05 — likely_benign (0.28) -4.98 chr12-123632421-C-G
41 Q→Q synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr12-123632421-C-T
41 Q→H missense_variant ClinVar Uncertain significance — — likely_benign (0.28) -4.98 ClinVar:2185148
41 Q→R missense_variant COSMIC — — — likely_benign (0.12) -4.32 COSV99967622
42 — frameshift_variant gnomAD — 2.05e-06 LoF — — chr12-123632418-C-CA
42 M→I missense_variant gnomAD — 1.37e-06 — likely_benign (0.28) -1.50 chr12-123632418-C-T
42 M→I missense_variant ClinVar Uncertain significance — — likely_benign (0.28) -1.50 ClinVar:1345195
42 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2858770
43 K→K synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123632415-T-C
43 K→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) 0.66 chr12-123632416-T-C
44 E→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -3.62 chr12-123632413-T-G
44 E→K missense_variant COSMIC — — — likely_benign (0.09) -3.59 COSV99967654
45 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123632411-CTTCT-C
46 P→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.15) -4.97 chr12-123632407-G-C
46 P→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -4.84 chr12-123632408-G-C
48 M→V missense_variant gnomAD — 4.10e-06 — likely_benign (0.08) -1.69 chr12-123632402-T-C
48 M→T missense_variant COSMIC — — — likely_benign (0.14) -4.32 COSV57459585
49 A→A synonymous_variant gnomAD — 6.23e-05 — — 0.00 chr12-123632397-G-A
49 A→V missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.70) -5.98 chr12-123632398-G-A
49 A→P missense_variant gnomAD — 6.84e-07 — likely_benign (0.29) -5.80 chr12-123632399-C-G
49 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1621049
50 S→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123632395-G-C
50 S→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:2767181
50 S→S synonymous_variant COSMIC — — — — 0.00 COSV57459031
51 A→A synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123632391-T-C
53 A→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.30) -5.36 chr12-123632387-C-A
54 A→A synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr12-123632382-G-A
54 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2961048
55 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123632379-G-A
55 I→M missense_variant gnomAD — 1.37e-06 — likely_benign (0.31) -6.30 chr12-123632379-G-C
55 I→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.94) -8.61 chr12-123632380-A-T
56 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123632376-C-A
56 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123632376-C-G
56 R→Q missense_variant gnomAD — 2.53e-05 — likely_benign (0.10) -4.94 chr12-123632377-C-T
56 R→W missense_variant gnomAD — 5.47e-05 — likely_benign (0.28) -7.19 chr12-123632378-G-A
56 R→W missense_variant ClinVar Uncertain significance — — likely_benign (0.28) -7.19 ClinVar:1386755
56 R→Q missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -4.94 ClinVar:1915443
56 R→W missense_variant COSMIC — — — likely_benign (0.28) -7.19 COSV57459867
57 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123632373-C-A
57 T→T synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr12-123632373-C-T
57 T→M missense_variant gnomAD — 5.47e-06 damaging ambiguous (0.40) -7.62 chr12-123632374-G-A
57 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2875935
57 T→M missense_variant COSMIC — — damaging ambiguous (0.40) -7.62 COSV57459816
57 T→S missense_variant COSMIC — — — likely_benign (0.23) -3.75 COSV57459822
61 F→F synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr12-123632361-G-A
61 F→F synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2998111
62 L→F missense_variant COSMIC — — damaging likely_pathogenic (0.75) -6.32 COSV57459800
63 K→N missense_variant gnomAD — 6.86e-07 — ambiguous (0.45) -5.51 chr12-123632355-C-A
63 K→K synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr12-123632355-C-T
63 K→K synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2832238
63 K→N missense_variant COSMIC — — — ambiguous (0.45) -5.51 COSV99967567
64 — frameshift_variant gnomAD — 6.86e-07 LoF — — chr12-123632353-CTCTT-C
64 R→T missense_variant COSMIC — — — likely_benign (0.14) -6.80 COSV57458514
65 D→H missense_variant gnomAD — 6.88e-07 damaging likely_pathogenic (0.76) -6.14 chr12-123632351-C-G
65 D→H missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.76) -6.14 ClinVar:1976823
66 K→E missense_variant gnomAD — 2.06e-06 — likely_benign (0.08) -3.62 chr12-123632348-T-C
67 G→E missense_variant gnomAD — 6.85e-07 — ambiguous (0.34) -3.34 chr12-123630533-C-T
67 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2826906
67 G→R missense_variant ClinVar — — damaging likely_pathogenic (0.63) -6.69 ClinVar:4381679
68 E→D missense_variant COSMIC — — — likely_benign (0.23) -3.13 COSV57458205
68 — mnv COSMIC — — — — — COSV104564172
69 T→A missense_variant COSMIC — — damaging likely_pathogenic (0.87) -7.31 COSV108005029
70 I→M missense_variant gnomAD — 6.85e-07 — likely_benign (0.18) -3.83 chr12-123630523-G-C
70 I→V missense_variant gnomAD — 6.85e-06 — likely_benign (0.11) -3.40 chr12-123630525-T-C
70 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.11) -3.40 ClinVar:1480504
71 Q→R missense_variant gnomAD — 6.85e-07 — likely_benign (0.25) -5.98 chr12-123630521-T-C
72 G→D missense_variant ClinVar Likely pathogenic — damaging likely_pathogenic (0.76) -4.81 ClinVar:2443120
73 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr12-123630514-C-G
74 R→R synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr12-123630513-T-G
74 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2719860
75 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630508-C-G
75 A→A synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr12-123630508-C-T
75 A→V missense_variant gnomAD — 3.42e-06 — likely_benign (0.13) -0.89 chr12-123630509-G-A
75 A→T missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -1.75 chr12-123630510-C-T
75 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2976088
75 A→A synonymous_variant COSMIC — — — — 0.00 COSV57460265
75 A→V missense_variant COSMIC — — — likely_benign (0.13) -0.89 COSV99967503
76 N→D missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -4.94 chr12-123630507-T-C
77 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630502-G-A
77 L→F missense_variant COSMIC — — damaging likely_pathogenic (0.68) -6.74 COSV57458047
78 T→T synonymous_variant gnomAD — 3.08e-05 — — 0.00 chr12-123630499-G-C
78 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:753274
80 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.20) -5.10 chr12-123630495-C-T
80 A→V missense_variant COSMIC — — — likely_benign (0.29) -4.69 COSV99967521
81 I→M missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -4.86 chr12-123630490-T-C
81 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -3.81 chr12-123630492-T-C
82 E→V missense_variant ClinVar Uncertain significance — — likely_benign (0.24) -5.71 ClinVar:4247691
83 T→T synonymous_variant gnomAD — 4.10e-06 — — 0.00 chr12-123630484-G-C
83 T→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -3.18 chr12-123630486-T-A
83 T→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -3.04 chr12-123630486-T-C
83 T→S missense_variant ClinVar Uncertain significance — — likely_benign (0.13) -3.18 ClinVar:1507295
84 L→L synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr12-123630481-C-G
84 L→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -9.79 chr12-123630482-A-G
84 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3003025
84 L→M missense_variant COSMIC — — — likely_benign (0.23) -5.07 COSV99967509
85 C→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:3639835
86 G→G synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123630475-A-G
87 V→A missense_variant gnomAD — 5.66e-04 — likely_benign (0.13) -3.56 chr12-123630473-A-G
87 V→A missense_variant ClinVar Benign/Likely benign — — likely_benign (0.13) -3.56 ClinVar:883546
87 V→A missense_variant COSMIC — — — likely_benign (0.13) -3.56 COSV57459432
88 D→H missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.80) -6.95 chr12-123630471-C-G
89 S→F missense_variant gnomAD — 1.37e-06 — ambiguous (0.44) -5.57 chr12-123630467-G-A
90 S→F missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.79) -7.59 chr12-123630464-G-A
91 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630460-C-T
91 V→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.68) -5.61 chr12-123630462-C-A
92 A→A synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123630457-T-G
92 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1906785
93 V→A missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.78) -6.86 chr12-123630455-A-G
95 S→S synonymous_variant gnomAD — 7.94e-05 — — 0.00 chr12-123630448-A-G
95 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2977946
95 S→F missense_variant COSMIC — — damaging likely_pathogenic (0.98) -9.37 COSV57459760
95 S→C missense_variant COSMIC — — damaging likely_pathogenic (0.59) -8.25 COSV99967639
96 G→G synonymous_variant gnomAD — 3.83e-05 — — 0.00 chr12-123630445-G-A
96 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630445-G-T
96 G→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.77) -8.56 chr12-123630446-C-A
96 G→S missense_variant gnomAD — 6.84e-07 — ambiguous (0.40) -6.71 chr12-123630447-C-T
96 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2974054
97 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630442-C-A
97 G→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.22) -5.95 chr12-123630443-C-G
97 G→R missense_variant gnomAD — 4.10e-06 damaging likely_pathogenic (0.97) -7.48 chr12-123630444-C-T
97 G→R missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.97) -7.48 ClinVar:3375980
100 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -6.24 chr12-123630433-G-T
100 F→F synonymous_variant COSMIC — — — — 0.00 COSV57458307
102 R→R synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123630427-G-A
102 R→H missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.57) -6.30 chr12-123630428-C-T
102 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2083276
103 F→F synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr12-123630424-G-A
103 F→F synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2978592
103 F→L missense_variant COSMIC — — damaging likely_pathogenic (0.99) -7.00 COSV57459047
104 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630421-G-A
104 I→I synonymous_variant COSMIC — — — — 0.00 COSV57459564
104 I→M missense_variant COSMIC — — — ambiguous (0.51) -6.42 COSV57458414
104 — inframe_deletion COSMIC — — — — — COSV57460141
106 L→V missense_variant gnomAD — 6.84e-07 — ambiguous (0.46) -6.86 chr12-123630417-G-C
106 L→I missense_variant gnomAD — 6.84e-07 — ambiguous (0.45) -7.24 chr12-123630417-G-T
107 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630412-G-A
107 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) 3.34 chr12-123630414-C-T
107 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3701756
108 S→T missense_variant ClinVar Uncertain significance — — likely_benign (0.12) -3.84 ClinVar:2124902
108 S→S synonymous_variant COSMIC — — — — 0.00 COSV57458728
108 S→F missense_variant COSMIC — — — ambiguous (0.48) -4.12 COSV99967684
109 L→L synonymous_variant gnomAD — 4.38e-05 — — 0.00 chr12-123630408-G-A
109 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1638519
109 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2778378
110 E→E synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr12-123630403-T-C
110 E→Q missense_variant gnomAD — 6.84e-07 — ambiguous (0.41) -5.31 chr12-123630405-C-G
110 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1938019
111 Y→Y synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123630400-G-A
111 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630402-A-AC
112 S→S synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr12-123630397-G-A
112 S→C missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -6.30 chr12-123630398-G-C
112 S→S synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:593688
112 S→F missense_variant COSMIC — — — likely_benign (0.30) -6.67 COSV57459824
113 D→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.28) -2.87 chr12-123630283-A-T
113 D→V missense_variant gnomAD — 1.37e-06 damaging ambiguous (0.48) -8.19 chr12-123630284-T-A
114 Y→Y synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630280-G-A
114 Y→S missense_variant gnomAD — 6.84e-07 — ambiguous (0.35) -1.47 chr12-123630281-T-G
114 Y→Y synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2778868
114 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2828613
117 C→R missense_variant COSMIC — — damaging likely_pathogenic (0.91) -6.12 COSV57459610
118 K→R missense_variant gnomAD — 4.10e-06 — likely_benign (0.10) -3.44 chr12-123630269-T-C
118 — frameshift_variant COSMIC — — LoF — — COSV104391797
119 K→K synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123630265-C-T
120 I→M missense_variant gnomAD — 1.37e-06 — likely_benign (0.11) -2.85 chr12-123630262-G-C
120 I→N missense_variant gnomAD — 6.84e-07 — likely_benign (0.30) -3.80 chr12-123630263-A-T
120 I→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.09) -0.03 chr12-123630264-T-C
121 M→K missense_variant COSMIC — — damaging likely_pathogenic (0.93) -9.19 COSV104564174
122 I→T missense_variant gnomAD — 6.16e-06 — likely_benign (0.10) -3.50 chr12-123630257-A-G
123 E→D missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -0.03 chr12-123630253-C-G
123 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630253-C-T
123 E→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.17) -4.98 chr12-123630254-T-C
123 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123630255-C-CA
123 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4807060
124 R→Q missense_variant gnomAD — 4.10e-06 damaging likely_pathogenic (0.60) -5.36 chr12-123630251-C-T
124 R→W missense_variant gnomAD — 2.74e-06 damaging likely_pathogenic (0.87) -7.74 chr12-123630252-G-A
124 R→Q missense_variant COSMIC — — damaging likely_pathogenic (0.60) -5.36 COSV99967535
125 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630247-T-TC
125 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630247-TC-T
125 G→R missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.99) -7.71 ClinVar:3087891
126 E→K missense_variant gnomAD — 3.42e-06 — likely_benign (0.14) -5.37 chr12-123630246-C-T
126 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630246-CT-C
126 E→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:2846761
127 L→V missense_variant gnomAD — 4.10e-06 — likely_benign (0.11) -0.34 chr12-123630243-G-C
129 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123630235-G-A
129 L→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -9.60 chr12-123630236-A-G
130 R→S missense_variant gnomAD — 2.05e-06 — likely_benign (0.20) -2.34 chr12-123630232-C-A
131 — inframe_deletion gnomAD — 7.52e-06 — — — chr12-123630229-TCTC-T
131 R→T missense_variant gnomAD — 6.84e-06 — ambiguous (0.46) -3.03 chr12-123630230-C-G
131 R→K missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) 3.09 chr12-123630230-C-T
131 — inframe_deletion ClinVar Uncertain significance — — — — ClinVar:1933346
131 R→G missense_variant COSMIC — — — ambiguous (0.50) -6.78 COSV99967524
132 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -3.22 chr12-123630228-T-C
133 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123630223-T-A
133 S→P missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (0.68) -7.69 chr12-123630225-A-G
133 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2991250
134 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630222-G-A
135 S→S synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr12-123630217-T-C
135 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123630217-T-G
135 S→L missense_variant gnomAD — 5.47e-06 damaging ambiguous (0.56) -7.56 chr12-123630218-G-A
135 S→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123630218-G-C
135 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1632053
135 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1938791
135 S→L missense_variant ClinVar Uncertain significance — damaging ambiguous (0.56) -7.56 ClinVar:1964945
135 S→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:2719446
136 R→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.91) -10.49 chr12-123630215-C-A
136 R→K missense_variant gnomAD — 6.84e-07 — ambiguous (0.53) -6.06 chr12-123630215-C-T
136 R→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123630216-T-A
136 R→G missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.85) -7.99 chr12-123630216-T-C
137 N→N synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630211-G-A
138 K→E missense_variant ClinVar Pathogenic — — ambiguous (0.46) -6.91 ClinVar:217279
139 I→I synonymous_variant gnomAD — 8.21e-06 — — 0.00 chr12-123630205-A-G
139 I→T missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.61) -5.74 chr12-123630206-A-G
139 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630206-AT-A
141 D→D synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123630199-A-G
141 D→Y missense_variant gnomAD — 1.37e-06 — likely_benign (0.15) -3.72 chr12-123630201-C-A
141 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2753789
142 L→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.93) -9.08 chr12-123630197-A-G
142 L→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -5.52 chr12-123630198-G-C
143 C→C synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr12-123630193-G-A
143 C→C synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3003887
144 H→H synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123630190-A-G
144 H→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -5.74 chr12-123630191-T-A
144 H→D missense_variant gnomAD — 2.74e-06 — likely_benign (0.25) -7.18 chr12-123630192-G-C
144 H→N missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -5.30 chr12-123630192-G-T
144 H→H synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2701929
145 T→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) -2.87 chr12-123630189-T-C
146 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123630184-G-GA
146 — inframe_deletion gnomAD — 1.37e-06 — — — chr12-123630184-GAAA-G
147 I→F missense_variant gnomAD — 6.84e-07 — ambiguous (0.50) -7.47 chr12-123630183-T-A
147 I→L missense_variant ClinVar Uncertain significance — — likely_benign (0.23) -6.41 ClinVar:3380131
148 K→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.26) -4.88 chr12-123630179-T-G
148 K→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.30) -4.97 chr12-123630180-T-C
149 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2891533
150 G→G synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123630172-T-C
150 G→G synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123630172-T-G
150 G→E missense_variant gnomAD — 3.63e-05 damaging likely_pathogenic (0.58) -2.85 chr12-123630173-C-T
150 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2845940
151 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123630169-C-A
151 A→A synonymous_variant gnomAD — 1.37e-05 — — 0.00 chr12-123630169-C-T
151 A→V missense_variant gnomAD — 1.10e-05 — likely_benign (0.25) -4.46 chr12-123630170-G-A
151 A→A synonymous_variant ClinVar — — — — 0.00 ClinVar:4381678
151 A→V missense_variant COSMIC — — — likely_benign (0.25) -4.46 COSV108005073
152 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627154-T-C
152 T→A missense_variant gnomAD — 1.98e-05 — likely_benign (0.11) -4.25 chr12-123627156-T-C
153 I→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.30) -5.37 chr12-123627153-T-A
153 I→V missense_variant gnomAD — 8.21e-06 — likely_benign (0.09) -1.56 chr12-123627153-T-C
153 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -1.56 ClinVar:4017108
154 L→F missense_variant gnomAD — 6.84e-07 — ambiguous (0.41) -6.32 chr12-123627148-C-A
154 L→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -11.47 chr12-123627149-A-G
154 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:721731
154 L→L synonymous_variant COSMIC — — — — 0.00 COSV101424582
155 T→T synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123627145-A-C
155 T→T synonymous_variant COSMIC — — — — 0.00 COSV71194134
156 H→H synonymous_variant gnomAD — 4.86e-05 — — 0.00 chr12-123627142-G-A
156 — frameshift_variant gnomAD — 4.79e-06 LoF — — chr12-123627142-G-GT
156 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2802843
156 H→H synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2898580
156 H→H synonymous_variant COSMIC — — — — 0.00 COSV71194586
157 A→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.91) -7.55 chr12-123627140-G-A
157 A→T missense_variant gnomAD — 2.39e-05 — ambiguous (0.52) -2.23 chr12-123627141-C-T
157 A→T missense_variant ClinVar Uncertain significance — — ambiguous (0.52) -2.23 ClinVar:2689011
157 A→T missense_variant COSMIC — — — ambiguous (0.52) -2.23 COSV71193843
158 Y→C missense_variant gnomAD — 2.05e-06 — likely_benign (0.14) -2.72 chr12-123627137-T-C
158 Y→C missense_variant ClinVar Uncertain significance — — likely_benign (0.14) -2.72 ClinVar:548549
159 S→S synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123627133-G-A
159 S→F missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.99) -10.62 chr12-123627134-G-A
159 S→F missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.99) -10.62 ClinVar:3068028
159 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4766714
160 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627130-T-C
160 R→K missense_variant COSMIC — — — ambiguous (0.35) -6.37 COSV107522310
161 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627127-C-T
162 V→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.89) -6.65 chr12-123627126-C-G
162 V→L missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.89) -6.65 ClinVar:4743250
162 V→F missense_variant COSMIC — — damaging likely_pathogenic (0.93) -9.55 COSV71194509
163 L→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.17) -6.18 chr12-123627123-G-C
165 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627115-G-C
165 V→V synonymous_variant COSMIC — — — — 0.00 COSV71194283
166 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627112-C-G
166 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123627112-C-T
166 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2820826
167 E→E synonymous_variant gnomAD — 8.13e-04 — — 0.00 chr12-123627109-T-C
167 E→V missense_variant gnomAD — 6.84e-07 — ambiguous (0.39) -7.38 chr12-123627110-T-A
167 E→E synonymous_variant ClinVar Benign — — — 0.00 ClinVar:307529
169 A→A synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr12-123627103-G-A
169 A→V missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.60) -6.40 chr12-123627104-G-A
169 A→T missense_variant gnomAD — 6.84e-07 — ambiguous (0.54) -6.05 chr12-123627105-C-T
169 A→V missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.60) -6.40 ClinVar:1465594
169 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1650516
169 A→V missense_variant COSMIC — — damaging likely_pathogenic (0.60) -6.40 COSV71194272
170 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627100-C-T
170 V→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.22) -5.05 chr12-123627102-C-G
170 V→M missense_variant gnomAD — 3.22e-05 — likely_benign (0.17) -5.62 chr12-123627102-C-T
170 V→M missense_variant ClinVar Uncertain significance — — likely_benign (0.17) -5.62 ClinVar:1486551
171 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627097-C-G
171 A→A synonymous_variant gnomAD — 9.47e-04 — — 0.00 chr12-123627097-C-T
171 A→V missense_variant gnomAD — 1.30e-05 — likely_benign (0.09) -2.58 chr12-123627098-G-A
171 A→A synonymous_variant ClinVar Benign/Likely benign — — — 0.00 ClinVar:425020
171 A→V missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -2.58 ClinVar:1467898
172 A→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -5.05 chr12-123627095-G-A
172 A→T missense_variant gnomAD — 1.85e-05 — likely_benign (0.10) -4.61 chr12-123627096-C-T
172 A→T missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -4.61 ClinVar:806960
172 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2018522
172 A→G missense_variant COSMIC — — — likely_benign (0.12) -4.33 COSV71194527
172 A→T missense_variant COSMIC — — — likely_benign (0.10) -4.61 COSV71193807
173 K→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123627093-T-A
173 K→N missense_variant COSMIC — — — likely_benign (0.24) -2.37 COSV101424580
174 K→M missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.59) -8.62 chr12-123627089-T-A
175 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627085-T-C
175 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627085-T-G
175 R→Q missense_variant gnomAD — 6.84e-07 — likely_benign (0.23) -4.65 chr12-123627086-C-T
175 R→* stop_gained gnomAD — 8.55e-05 LoF — — chr12-123627087-G-A
175 R→* stop_gained ClinVar Pathogenic/Likely pathogenic — LoF — — ClinVar:995942
175 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2826822
175 R→Q missense_variant ClinVar Uncertain significance — — likely_benign (0.23) -4.65 ClinVar:3087892
175 R→Q missense_variant COSMIC — — — likely_benign (0.23) -4.65 COSV71193772
175 R→* stop_gained COSMIC — — LoF — — COSV101424587
176 F→L missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.95) -4.94 ClinVar:3087893
177 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627079-A-G
177 S→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.19) -5.87 chr12-123627080-C-A
177 S→T missense_variant gnomAD — 2.74e-06 — likely_benign (0.07) -2.19 chr12-123627080-C-G
177 S→N missense_variant gnomAD — 2.53e-05 — likely_benign (0.12) -2.47 chr12-123627080-C-T
177 S→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -6.96 chr12-123627081-T-C
178 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123627076-T-C
178 V→A missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.65) -6.86 chr12-123627077-A-G
178 V→L missense_variant gnomAD — 1.09e-05 damaging likely_pathogenic (0.71) -6.49 chr12-123627078-C-A
178 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -4.55 chr12-123627078-C-T
178 V→A missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.65) -6.86 ClinVar:1703884
178 V→L missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.71) -6.49 ClinVar:2198556
178 V→A missense_variant COSMIC — — damaging likely_pathogenic (0.65) -6.86 COSV71194221
179 Y→Y synonymous_variant gnomAD — 8.89e-06 — — 0.00 chr12-123627073-G-A
179 Y→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123627073-G-T
179 Y→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:2126425
179 Y→Y synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3607656
180 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123627070-G-A
180 V→I missense_variant gnomAD — 9.58e-06 — likely_benign (0.08) -2.99 chr12-123627072-C-T
180 V→I missense_variant ClinVar Likely benign — — likely_benign (0.08) -2.99 ClinVar:2604486
180 V→I missense_variant COSMIC — — — likely_benign (0.08) -2.99 COSV107522311
181 T→P missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.79) -7.84 ClinVar:3274962
182 E→D missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.72) -6.18 chr12-123627064-C-G
182 E→E synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr12-123627064-C-T
182 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123627066-CTG-C
182 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2765961
182 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2898481
183 S→* stop_gained gnomAD — 4.10e-06 LoF — — chr12-123627062-G-C
183 S→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.22) -3.59 chr12-123627063-A-C
183 — frameshift_variant ClinVar Pathogenic/Likely pathogenic — LoF — — ClinVar:2835749
184 Q→Q synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123627058-C-T
184 Q→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.71) -5.71 chr12-123627059-T-G
184 Q→Q synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:883543
185 P→H missense_variant COSMIC — — damaging likely_pathogenic (0.91) -8.12 COSV101424581
186 D→H missense_variant gnomAD — 1.09e-05 damaging likely_pathogenic (0.86) -6.56 chr12-123627054-C-G
187 L→F missense_variant gnomAD — 1.37e-06 — likely_benign (0.09) -2.35 chr12-123627049-C-A
187 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -2.35 chr12-123627049-C-G
187 L→W missense_variant gnomAD — 2.74e-06 — likely_benign (0.16) -4.52 chr12-123627050-A-C
187 L→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -2.87 chr12-123627051-A-C
187 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123627051-A-G
187 L→M missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -1.09 chr12-123627051-A-T
188 S→S synonymous_variant gnomAD — 2.12e-05 — — 0.00 chr12-123627046-T-C
188 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1570253
189 G→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -9.75 chr12-123627044-C-A
190 K→N missense_variant gnomAD — 2.19e-05 — ambiguous (0.37) -3.54 chr12-123626490-C-A
190 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123626492-TACTG-T
192 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123626485-AT-A
193 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123626481-G-T
193 A→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -11.39 chr12-123626483-C-G
193 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.20) -4.33 chr12-123626483-C-T
193 A→V missense_variant COSMIC — — — likely_benign (0.23) -2.91 COSV71194576
193 A→T missense_variant COSMIC — — — likely_benign (0.20) -4.33 COSV109442771
194 K→R missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) -3.06 chr12-123626479-T-C
194 K→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -1.34 chr12-123626480-T-C
195 A→A synonymous_variant gnomAD — 1.78e-05 — — 0.00 chr12-123626475-G-A
195 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2961832
196 L→P missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (0.99) -10.50 chr12-123626473-A-G
196 L→F missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.72) -8.12 chr12-123626474-G-A
196 L→V missense_variant gnomAD — 4.10e-06 — ambiguous (0.40) -7.31 chr12-123626474-G-C
196 L→V missense_variant ClinVar Uncertain significance — — ambiguous (0.40) -7.31 ClinVar:3087894
196 L→P missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.99) -10.50 ClinVar:3779607
196 L→R missense_variant COSMIC — — damaging likely_pathogenic (0.98) -10.75 COSV71194199
198 H→H synonymous_variant gnomAD — 1.23e-05 — — 0.00 chr12-123626466-G-A
198 H→H synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1982698
198 H→H synonymous_variant COSMIC — — — — 0.00 COSV105350625
199 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.15) -4.68 chr12-123626465-G-A
199 L→V missense_variant gnomAD — 4.10e-06 — likely_benign (0.14) -6.18 chr12-123626465-G-C
199 L→F missense_variant ClinVar Uncertain significance — — likely_benign (0.15) -4.68 ClinVar:3087895
200 N→N synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123626460-G-A
200 N→S missense_variant gnomAD — 6.84e-06 — likely_benign (0.08) -3.36 chr12-123626461-T-C
200 N→S missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -3.36 ClinVar:3274960
201 V→V synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr12-123626457-G-A
201 V→F missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.62) -9.53 chr12-123626459-C-A
201 V→I missense_variant gnomAD — 2.94e-05 — likely_benign (0.07) -0.68 chr12-123626459-C-T
201 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -0.68 ClinVar:2182346
203 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123626453-CAG-C
203 V→D missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.94) -12.23 ClinVar:915406
203 — frameshift_variant ClinVar Likely pathogenic — LoF — — ClinVar:3382064
204 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123626448-A-G
204 T→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.24) -5.38 chr12-123626449-G-C
204 T→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.24) -5.38 chr12-123626450-T-A
204 T→S missense_variant ClinVar Uncertain significance — — likely_benign (0.24) -5.38 ClinVar:3274961
205 V→M missense_variant gnomAD — 4.10e-06 — likely_benign (0.15) -2.46 chr12-123626447-C-T
206 V→V synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123626442-C-T
206 V→L missense_variant gnomAD — 5.47e-06 — ambiguous (0.37) -4.80 chr12-123626444-C-G
206 V→M missense_variant gnomAD — 6.84e-07 — ambiguous (0.49) -5.64 chr12-123626444-C-T
206 V→L missense_variant ClinVar Uncertain significance — — ambiguous (0.37) -4.80 ClinVar:2178158
206 V→M missense_variant ClinVar Uncertain significance — — ambiguous (0.49) -5.64 ClinVar:1977645
206 V→L missense_variant COSMIC — — — ambiguous (0.37) -4.80 COSV71194730
207 L→V missense_variant ClinVar Uncertain significance — — likely_benign (0.26) -4.84 ClinVar:4618336
208 D→G missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -10.00 chr12-123626437-T-C
209 A→A synonymous_variant gnomAD — 1.04e-04 — — 0.00 chr12-123626433-A-G
209 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123626433-A-T
209 A→T missense_variant gnomAD — 1.37e-06 — likely_benign (0.24) -5.07 chr12-123626435-C-T
209 A→A synonymous_variant ClinVar Conflicting classifications of pathogenicity — — — 0.00 ClinVar:882754
209 A→A synonymous_variant COSMIC — — — — 0.00 COSV107522313
209 A→T missense_variant COSMIC — — — likely_benign (0.24) -5.07 COSV71194288
210 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123626430-A-T
210 A→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.60) -6.18 chr12-123626432-C-T
211 V→V synonymous_variant gnomAD — 1.71e-05 — — 0.00 chr12-123626427-G-A
211 V→V synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123626427-G-T
211 V→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.19) -5.82 chr12-123626428-A-G
211 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -4.13 chr12-123626429-C-T
211 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123626429-CAGCAGCATCT-C
211 V→F missense_variant ClinVar Pathogenic — damaging likely_pathogenic (0.72) -10.04 ClinVar:217277
211 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2977464
211 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2983669
212 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624862-G-A
212 G→D missense_variant gnomAD — 1.09e-05 damaging likely_pathogenic (0.98) -8.24 chr12-123626425-C-T
212 G→S missense_variant gnomAD — 1.57e-05 — likely_benign (0.29) -5.30 chr12-123626426-C-T
212 G→D missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.98) -8.24 ClinVar:977417
213 Y→C missense_variant gnomAD — 3.42e-06 — likely_benign (0.32) -6.33 chr12-123624860-T-C
214 I→V missense_variant gnomAD — 5.47e-06 — likely_benign (0.07) -2.25 chr12-123624858-T-C
215 M→I missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.59) -3.88 chr12-123624853-C-T
215 M→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.72) -6.03 chr12-123624854-A-G
216 E→D missense_variant gnomAD — 6.84e-07 — ambiguous (0.49) -4.36 chr12-123624850-C-G
216 E→* stop_gained ClinVar — — LoF — — ClinVar:4381676
216 E→* stop_gained COSMIC — — LoF — — COSV99434892
217 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624847-T-C
217 K→R missense_variant gnomAD — 1.44e-05 — likely_benign (0.10) -4.16 chr12-123624848-T-C
217 K→E missense_variant gnomAD — 7.53e-06 — likely_benign (0.31) -6.94 chr12-123624849-T-C
217 K→E missense_variant ClinVar Uncertain significance — — likely_benign (0.31) -6.94 ClinVar:1432529
217 K→K synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2744942
218 A→E missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.88) -6.34 chr12-123624845-G-T
219 D→H missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.68) -6.23 chr12-123624843-C-G
219 D→N missense_variant gnomAD — 1.51e-05 — likely_benign (0.25) -4.95 chr12-123624843-C-T
221 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624835-G-T
221 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -4.26 chr12-123624837-C-T
221 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.12) -4.26 ClinVar:1696202
221 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2839826
222 I→T missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.85) -8.33 chr12-123624833-A-G
222 I→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -2.57 chr12-123624834-T-A
223 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123624829-A-G
223 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.19) -5.40 chr12-123624831-C-T
223 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2997166
224 G→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -11.00 chr12-123624827-C-A
224 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123624828-C-CA
224 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:1416368
225 A→G missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.57) -6.99 chr12-123624824-G-C
225 — frameshift_variant gnomAD — 8.89e-06 LoF — — chr12-123624824-GCA-G
225 — frameshift_variant ClinVar Pathogenic/Likely pathogenic — LoF — — ClinVar:1176971
227 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624817-T-A
227 G→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.92) -7.68 chr12-123624818-C-A
227 G→R missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (1.00) -8.93 chr12-123624819-C-T
229 V→A missense_variant gnomAD — 7.53e-06 — ambiguous (0.41) -5.17 chr12-123624812-A-G
229 V→F missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.87) -9.11 chr12-123624813-C-A
229 V→A missense_variant ClinVar Uncertain significance — — ambiguous (0.41) -5.17 ClinVar:1373531
231 N→N synonymous_variant gnomAD — 7.66e-05 — — 0.00 chr12-123624805-G-A
231 N→N synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:715309
231 N→S missense_variant COSMIC — — — likely_benign (0.11) 3.07 COSV99434254
232 G→R missense_variant gnomAD — 1.64e-05 damaging likely_pathogenic (0.99) -10.12 chr12-123624804-C-T
232 G→R missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.99) -10.12 ClinVar:1981639
233 G→G synonymous_variant gnomAD — 7.53e-06 — — 0.00 chr12-123624799-T-G
233 G→G synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:882753
234 I→I synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr12-123624796-A-G
234 I→S missense_variant gnomAD — 2.74e-06 damaging likely_pathogenic (0.98) -9.38 chr12-123624797-A-C
234 I→T missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.97) -6.29 chr12-123624797-A-G
234 — inframe_deletion ClinVar Pathogenic — — — — ClinVar:217280
234 I→I synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3010734
235 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624793-A-G
235 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123624793-A-T
235 I→I synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:740083
235 I→I synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3700710
236 N→Y missense_variant gnomAD — 1.64e-05 damaging likely_pathogenic (0.98) -11.44 chr12-123624792-T-A
236 N→H missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.87) -9.81 chr12-123624792-T-G
236 N→Y missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.98) -11.44 ClinVar:4124
237 K→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.95) -6.80 chr12-123624787-C-G
237 K→N missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.95) -6.80 ClinVar:982930
238 I→M missense_variant gnomAD — 3.42e-06 — likely_benign (0.30) -4.94 chr12-123622759-A-C
238 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622759-A-G
239 G→V missense_variant gnomAD — 2.26e-05 damaging likely_pathogenic (1.00) -10.19 chr12-123622757-C-A
239 G→R missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -10.31 chr12-123622758-C-T
240 T→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -8.87 chr12-123622754-G-A
240 T→N missense_variant gnomAD — 4.11e-06 damaging likely_pathogenic (0.94) -10.37 chr12-123622754-G-T
240 T→N missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.94) -10.37 ClinVar:2537812
241 N→S missense_variant gnomAD — 1.92e-05 — likely_benign (0.08) -1.97 chr12-123622751-T-C
244 A→T missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.95) -8.56 chr12-123622743-C-T
244 A→T missense_variant COSMIC — — damaging likely_pathogenic (0.95) -8.56 COSV108044470
244 A→S missense_variant COSMIC — — — ambiguous (0.45) -6.56 COSV53017684
245 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622738-C-T
245 V→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -4.62 chr12-123622740-C-A
245 V→M missense_variant gnomAD — 3.42e-06 — likely_benign (0.15) -5.55 chr12-123622740-C-T
245 V→L missense_variant ClinVar Uncertain significance — — likely_benign (0.14) -4.62 ClinVar:3274963
246 C→C synonymous_variant gnomAD — 1.85e-05 — — 0.00 chr12-123622735-A-G
246 C→Y missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.80) -6.59 chr12-123622736-C-T
246 C→R missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.96) -10.68 chr12-123622737-A-G
246 C→C synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2889787
247 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123622733-GCA-G
247 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2829720
248 K→N missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.76) -6.16 chr12-123622729-T-G
248 K→T missense_variant gnomAD — 6.84e-07 — ambiguous (0.55) -7.00 chr12-123622730-T-G
249 A→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.12) -3.78 chr12-123622727-G-A
249 A→V missense_variant ClinVar Uncertain significance — — likely_benign (0.12) -3.78 ClinVar:1043126
250 Q→Q synonymous_variant gnomAD — 1.16e-05 — — 0.00 chr12-123622723-C-T
250 Q→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -3.98 chr12-123622724-T-C
250 Q→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123622725-G-A
250 Q→K missense_variant gnomAD — 2.74e-06 — likely_benign (0.17) -4.77 chr12-123622725-G-T
250 Q→Q synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2570853
251 N→N synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123622720-G-A
252 K→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -4.99 chr12-123622718-T-C
252 K→R missense_variant ClinVar Uncertain significance — — likely_benign (0.16) -4.99 ClinVar:882752
253 P→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.73) -6.70 chr12-123622715-G-A
254 F→F synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622711-G-A
254 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.85) -4.93 chr12-123622713-A-G
254 F→L missense_variant COSMIC — — damaging likely_pathogenic (0.85) -4.93 COSV108044475
255 — inframe_deletion gnomAD — 6.84e-07 — — — chr12-123622708-ATAGAAAGGT-A
255 Y→C missense_variant gnomAD — 1.30e-05 damaging ambiguous (0.54) -7.75 chr12-123622709-T-C
255 Y→C missense_variant ClinVar Uncertain significance — damaging ambiguous (0.54) -7.75 ClinVar:1906761
256 V→V synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr12-123622705-C-T
256 V→A missense_variant gnomAD — 6.84e-07 — ambiguous (0.43) -5.68 chr12-123622706-A-G
256 V→M missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.94) -9.12 chr12-123622707-C-T
257 V→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.26) -5.42 chr12-123622703-A-G
258 A→V missense_variant gnomAD — 6.84e-07 — ambiguous (0.41) -5.81 chr12-123622700-G-A
258 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -4.00 chr12-123622701-C-T
259 E→E synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr12-123622696-T-C
259 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123622697-TC-T
259 E→K missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -10.44 chr12-123622698-C-T
260 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622693-A-G
260 S→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.92) -8.19 chr12-123622694-C-T
260 — frameshift_variant gnomAD — 4.10e-06 LoF — — chr12-123622694-CTT-C
260 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2762330
261 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -5.68 chr12-123622692-A-G
261 F→F synonymous_variant COSMIC — — — — 0.00 COSV53015462
262 K→N missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.99) -9.12 chr12-123622687-C-G
262 K→K synonymous_variant gnomAD — 7.52e-06 — — 0.00 chr12-123622687-C-T
262 K→M missense_variant COSMIC — — damaging likely_pathogenic (0.99) -9.87 COSV53017385
263 F→L missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (1.00) -9.00 chr12-123622686-A-G
264 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123622683-CAAACTTG-C
264 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2765937
265 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622678-C-G
265 R→Q missense_variant gnomAD — 4.10e-06 damaging likely_pathogenic (0.81) -7.75 chr12-123622679-C-T
265 R→W missense_variant gnomAD — 4.79e-06 damaging likely_pathogenic (0.92) -9.75 chr12-123622680-G-A
265 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.92) -9.75 COSV53016012
266 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622675-G-C
266 L→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.97) -9.96 chr12-123622676-A-G
266 L→L synonymous_variant COSMIC — — — — 0.00 COSV99434759
266 L→P missense_variant COSMIC — — damaging likely_pathogenic (0.97) -9.96 COSV53015966
266 L→F missense_variant COSMIC — — — likely_benign (0.34) -6.12 COSV99434394
267 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -7.96 chr12-123622672-A-C
267 F→V missense_variant ClinVar Pathogenic — damaging likely_pathogenic (0.97) -9.65 ClinVar:217282
267 F→F synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2781763
268 P→R missense_variant gnomAD — 4.79e-06 damaging likely_pathogenic (0.99) -12.31 chr12-123622670-G-C
268 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:1461865
269 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123622666-T-G
269 L→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.62) -7.44 chr12-123622668-G-C
269 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2829479
270 N→N synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123622663-G-A
270 N→K missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (0.79) -6.92 chr12-123622663-G-C
270 N→S missense_variant gnomAD — 2.05e-06 — likely_benign (0.11) -4.32 chr12-123622664-T-C
270 N→N synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2693620
271 Q→Q synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123622660-C-T
271 Q→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123622662-G-A
272 Q→E missense_variant gnomAD — 1.37e-06 — likely_benign (0.09) -4.50 chr12-123622659-G-C
273 D→D synonymous_variant gnomAD — 9.58e-06 — — 0.00 chr12-123622654-G-A
273 D→D synonymous_variant ClinVar Conflicting classifications of pathogenicity — — — 0.00 ClinVar:198774
274 V→I missense_variant gnomAD — 3.35e-05 — likely_benign (0.09) -2.43 chr12-123622653-C-T
274 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -2.43 ClinVar:2342295
274 V→V synonymous_variant COSMIC — — — — 0.00 COSV106362880
276 D→G missense_variant gnomAD — 7.53e-06 — likely_benign (0.16) -3.91 chr12-123622646-T-C
279 K→R missense_variant ClinVar Uncertain significance — — likely_benign (0.17) -3.94 ClinVar:2584983
279 K→N missense_variant COSMIC — — damaging likely_pathogenic (0.99) -6.51 COSV104586314
280 Y→* stop_gained gnomAD — 1.37e-06 LoF — — chr12-123621918-A-C
280 Y→C missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.81) -4.74 chr12-123621919-T-C
281 K→E missense_variant gnomAD — 3.42e-06 — likely_benign (0.31) -5.13 chr12-123621917-T-C
282 A→T missense_variant ClinVar Uncertain significance — — likely_benign (0.12) -2.46 ClinVar:4017109
283 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123621909-G-A
283 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2892296
283 D→Y missense_variant COSMIC — — — likely_benign (0.20) -4.08 COSV53016683
285 L→L synonymous_variant gnomAD — 8.55e-05 — — 0.00 chr12-123621903-G-A
285 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123621903-G-C
285 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3013246
286 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621900-C-T
286 K→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -2.24 chr12-123621901-T-C
286 — frameshift_variant gnomAD — 6.16e-06 LoF — — chr12-123621902-TGA-T
286 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:1683289
287 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621897-G-A
287 V→V synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123621897-G-C
287 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1616596
287 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2787901
288 A→A synonymous_variant gnomAD — 2.67e-05 — — 0.00 chr12-123621894-C-T
288 A→V missense_variant gnomAD — 1.71e-05 — likely_benign (0.08) -1.77 chr12-123621895-G-A
288 — frameshift_variant gnomAD — 7.53e-06 LoF — — chr12-123621896-C-CGACCT
288 A→T missense_variant gnomAD — 8.62e-05 — likely_benign (0.07) -1.92 chr12-123621896-C-T
288 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:762889
288 A→T missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -1.92 ClinVar:1524276
288 A→V missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -1.77 ClinVar:2140196
288 — frameshift_variant ClinVar Pathogenic/Likely pathogenic — LoF — — ClinVar:2891124
288 A→A synonymous_variant COSMIC — — — — 0.00 COSV53016619
288 A→V missense_variant COSMIC — — — likely_benign (0.08) -1.77 COSV53015723
288 A→S missense_variant COSMIC — — — likely_benign (0.07) -2.48 COSV99434053
289 Q→* stop_gained gnomAD — 6.84e-07 LoF — — chr12-123621893-G-A
289 Q→E missense_variant gnomAD — 2.74e-06 — likely_benign (0.06) -1.95 chr12-123621893-G-C
289 Q→K missense_variant gnomAD — 6.84e-07 — likely_benign (0.06) 0.23 chr12-123621893-G-T
290 T→T synonymous_variant gnomAD — 1.09e-05 — — 0.00 chr12-123621888-A-G
290 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2984521
291 G→V missense_variant COSMIC — — — likely_benign (0.12) -4.64 COSV53017342
293 D→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.13) -4.20 chr12-123621880-T-G
293 D→N missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) -0.44 chr12-123621881-C-T
294 L→I missense_variant COSMIC — — — likely_benign (0.12) -5.25 COSV99434871
295 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621873-T-C
295 K→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) 2.47 chr12-123621874-T-C
295 K→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) 0.98 chr12-123621874-T-G
295 K→Q missense_variant gnomAD — 3.42e-06 — likely_benign (0.09) -0.44 chr12-123621875-T-G
296 E→E synonymous_variant gnomAD — 8.21e-06 — — 0.00 chr12-123621870-C-T
296 E→Q missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -1.53 chr12-123621872-C-G
296 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123621872-CTT-C
296 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2898199
296 E→Q missense_variant COSMIC — — — likely_benign (0.09) -1.53 COSV99434770
297 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621867-C-T
297 E→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.22) -4.85 chr12-123621868-T-C
297 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2824669
298 H→H synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr12-123621864-A-G
298 H→Y missense_variant gnomAD — 6.84e-07 — ambiguous (0.55) -5.26 chr12-123621866-G-A
298 H→D missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.78) -8.23 chr12-123621866-G-C
299 P→P synonymous_variant gnomAD — 2.05e-05 — — 0.00 chr12-123621861-C-T
299 P→L missense_variant gnomAD — 2.74e-06 damaging likely_pathogenic (0.88) -6.53 chr12-123621862-G-A
299 P→P synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:738949
299 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:2769348
299 P→P synonymous_variant COSMIC — — — — 0.00 COSV53016848
300 W→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:4700314
301 V→V synonymous_variant gnomAD — 3.15e-05 — — 0.00 chr12-123621855-G-A
301 V→V synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr12-123621855-G-C
301 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1667617
301 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.13) 1.34 ClinVar:1906251
301 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1917279
301 V→V synonymous_variant COSMIC — — — — 0.00 COSV53017155
302 D→N missense_variant gnomAD — 8.89e-06 damaging likely_pathogenic (0.98) -9.50 chr12-123621854-C-T
302 D→H missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (1.00) -12.12 ClinVar:1465208
302 D→D synonymous_variant COSMIC — — — — 0.00 COSV53016416
303 Y→Y synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621849-G-A
303 Y→C missense_variant gnomAD — 3.56e-05 damaging likely_pathogenic (0.87) -7.33 chr12-123621850-T-C
303 Y→H missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.96) -6.68 chr12-123621851-A-G
303 Y→C missense_variant ClinVar Pathogenic/Likely pathogenic — damaging likely_pathogenic (0.87) -7.33 ClinVar:217281
303 Y→F missense_variant ClinVar Uncertain significance — — likely_benign (0.20) -5.05 ClinVar:4740486
304 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2719607
305 A→P missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) 0.39 chr12-123621845-C-G
306 P→R missense_variant ClinVar Pathogenic — damaging likely_pathogenic (0.96) -11.12 ClinVar:217278
306 P→A missense_variant ClinVar Uncertain significance — — ambiguous (0.43) -6.02 ClinVar:4017107
306 P→A missense_variant COSMIC — — — ambiguous (0.43) -6.02 COSV99434579
307 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2823944
308 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123621834-TAAGG-T
308 L→V missense_variant gnomAD — 1.03e-05 damaging likely_benign (0.30) -7.73 chr12-123621836-A-C
309 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621831-G-A
309 — frameshift_variant gnomAD — 2.05e-06 LoF — — chr12-123621832-AT-A
309 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.17) -5.24 chr12-123621833-T-C
310 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621828-A-G
310 T→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.95) -8.38 chr12-123621829-G-A
310 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr12-123621829-G-GTGAT
311 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621827-G-A
311 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2797947
312 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621822-C-G
312 L→L synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123621822-C-T
312 L→Q missense_variant gnomAD — 4.10e-06 damaging likely_pathogenic (0.97) -10.62 chr12-123621823-A-T
312 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2801144
313 F→F synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr12-123621819-A-G
313 — inframe_deletion gnomAD — 6.84e-07 — — — chr12-123621821-ACAG-A
314 T→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -8.87 chr12-123621817-G-A
314 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr12-123621818-TA-T
315 D→G missense_variant gnomAD — 2.74e-06 damaging likely_pathogenic (0.99) -10.12 chr12-123621814-T-C
315 D→G missense_variant ClinVar Conflicting classifications of pathogenicity — damaging likely_pathogenic (0.99) -10.12 ClinVar:1426819
317 G→G synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr12-123621807-G-A
317 G→G synonymous_variant gnomAD — 1.71e-05 — — 0.00 chr12-123621807-G-C
317 G→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.92) -8.87 chr12-123621809-C-T
317 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2643513
317 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2981686
317 G→D missense_variant COSMIC — — damaging likely_pathogenic (0.98) -9.12 COSV53016088
318 V→M missense_variant gnomAD — 1.37e-05 damaging likely_pathogenic (0.64) -6.99 chr12-123621806-C-T
318 V→M missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.64) -6.99 ClinVar:307528
318 V→A missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.69) -5.52 ClinVar:2130873
318 V→M missense_variant COSMIC — — damaging likely_pathogenic (0.64) -6.99 COSV53016408
319 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621801-C-A
319 L→L synonymous_variant gnomAD — 1.64e-05 — — 0.00 chr12-123621801-C-T
319 L→R missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.94) -9.66 chr12-123621802-A-C
319 L→P missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.99) -9.79 chr12-123621802-A-G
319 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2992127
320 T→I missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.92) -7.30 chr12-123621799-G-A
320 T→R missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.90) -9.49 chr12-123621799-G-C
320 T→R missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.90) -9.49 ClinVar:2584935
321 P→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.82) -6.94 chr12-123621797-G-A
322 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621792-T-C
323 A→A synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr12-123621789-T-G
323 A→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.85) -7.55 chr12-123621791-C-T
323 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1910644
324 V→I missense_variant COSMIC — — — likely_benign (0.15) -6.97 COSV53018031
325 S→S synonymous_variant gnomAD — 1.40e-04 — — 0.00 chr12-123621783-G-A
325 S→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.34) -7.31 chr12-123621785-T-C
325 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:732578
325 S→G missense_variant ClinVar Uncertain significance — — likely_benign (0.34) -7.31 ClinVar:4247692
325 S→S synonymous_variant COSMIC — — — — 0.00 COSV99434724
326 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2105244
327 E→D missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -8.62 chr12-123621777-C-G
327 E→G missense_variant gnomAD — 2.74e-06 damaging likely_pathogenic (0.95) -8.37 chr12-123621778-T-C
327 E→D missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.97) -8.62 ClinVar:1509586
328 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123621774-G-A
328 L→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.86) -8.62 chr12-123621776-G-C
328 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2969477
329 I→L missense_variant gnomAD — 6.84e-07 — ambiguous (0.46) -6.90 chr12-123621773-T-G
329 I→I synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:1579754
330 — inframe_deletion gnomAD — 6.84e-07 — — — chr12-123621769-TTGA-T
331 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr12-123621765-G-A
331 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621765-G-C
331 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2736177
331 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2844897
331 L→F missense_variant COSMIC — — damaging likely_pathogenic (0.72) -6.56 COSV105107975
332 Y→C missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.90) -7.87 chr12-123621763-T-C
332 Y→H missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.89) -7.28 chr12-123621764-A-G
333 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr12-123621759-C-A
333 L→M missense_variant COSMIC — — — likely_benign (0.26) -3.50 COSV99434855
333 L→L synonymous_variant COSMIC — — — — 0.00 COSV53017328

755 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.

Evidence