SwissIsoform v2

TRIP13 · ENST00000166345.8

EXTENDED 456 aa (canonical 432 aa) · UniProt Q15645 · CDLMPS

chr5:892926:+:GTG:ENST00000166345.8

AI summary 24-aa N-terminal add-on folds moderately but shows no domain, localization, or biophysical change to TRIP13's AAA+ remodeling machinery.
How it diverges

The extension forms a short, moderately-confident strand (pLDDT 0.775) but sits essentially undocked from the retained core — high PAE (~25.6 Å) between the extension and the body, sparse contacts (10 total) confined to the junction, and an unresolved orientation — so this reads as a floppy appendage rather than an integrated structural addition. The DeepLoc nucleus-only call for the isoform versus the canonical's dual Cytoplasm|Nucleus prediction is a marginal shift between two borderline, similarly-confident calls (0.73 vs 0.62) with no gained targeting signal, not a genuine relocalization.

Why it matters

TRIP13 is a hexameric AAA+ ATPase whose function depends on its pore-loop engagement of HORMA-domain client N-termini and on partitioning between nucleus, chromosome, MTOC and cytosol; a loosely tethered, non-integrated N-terminal tail with no new domain, no clear compartment switch, and no biophysical shift gives no structural basis to expect altered client engagement, ATPase assembly, or compartmental redistribution. Nothing in the differential mechanism findings meaningfully reshapes or contradicts the established remodeling/checkpoint-silencing biology.

LLM confidence low

Detection evidence (mass-spec, multi-cell-line, initiation efficiency) supports this isoform being genuinely translated, but weak conservation and the unintegrated, low-confidence extension structure argue against any tier-2 mechanism being real or consequential.

Folding

Canonical (432 aa)
Download CIF
Isoform (456 aa)
Download CIF
Coloured by ESMFold2 pLDDT confidence (blue = high, orange/red = low). Differential region — residues 1–24 (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 (1–24).

Evidence — click any tile for the differential-region detail

C Conservation Not interesting
LLM reasoning
The N-terminal extension added by this isoform shows no strong evidence of purifying selection at the amino-acid level, unlike the canonical protein it precedes. Primate identity across the unique region is only 77.8%, below the canonical protein's 97.0% baseline for the same species set, and mammalian identity drops further to 54.2% against a 92.6% canonical baseline — both well below the levels expected for a functionally constrained coding sequence. Absolute phyloP over the unique region is 0.24, far under the ~2 threshold for strong constraint, and is starkly lower than the shared/canonical region's phyloP of 3.08, reinforcing that this added segment behaves like non-coding sequence rather than conserved protein-coding sequence. Together these argue against the extension being a biologically conserved, functionally important addition.
Unique region 77.8% similar across primates
Unique region 54.2% similar across mammals
Unique region PhyloP: 0.24 — neutral selection
D Detection Interesting
LLM reasoning
This N-terminal extension has direct, orthogonal proteomic and translational evidence of being actually made: a peptide spanning the unique region (WRRPRPGWVPTALGGAMDEAVGDLK) was PepQuery2-validated with a strong hyperscore of 47.2 and 5 supporting PSMs, confirming the extended N-terminus is translated into detectable protein, not just a transcriptional artifact. This is corroborated by ribosome-profiling data showing the alt TIS is used reproducibly across 4 of 6 cell lines (HeLa, K562, U2OS, RPE1-Async, all with highly significant p-values down to ~1e-36) and initiated at meaningful efficiency (max 0.048 in HeLa), roughly 1.9x the canonical start's usage in that same line, though canonical usage exceeds alt usage in K562 (0.099 vs 0.027) and other lines, indicating context-dependent competition between the two start sites rather than uniform dominance of one. Together, robust multi-line detection plus validated unique-region peptide evidence make a strong case that this extended isoform is genuinely produced and physically present at the protein level.
detected in 4/6 cell lines
alt used 1.9× vs canonical
1/6 isoform-unique peptides validated
L Localization Neutral
LLM reasoning
The DeepLoc call shifts from a dual Cytoplasm|Nucleus prediction in canonical to Nucleus-only in the isoform, but both top-class probabilities are modest and similar (0.73 canonical vs 0.62 isoform), and cytoplasm remains the second-highest isoform probability (0.43) close behind nucleus (0.62) — this looks like a marginal shift in a borderline call rather than a robust compartment switch, and no discrete sorting signal or membrane-association change accompanies it. No secretory or transit-peptide signal is gained or lost: SignalP stays OTHER and TargetP stays noTP in both, with no cleavage-site change, so the added N-terminal 24 residues (MAATLGVRWRRPRPGWVPTALGGA) do not create a classical targeting signal. Overall the localization evidence is weak and inconclusive rather than a clear functional consequence of the extension.
iso: Nucleus | canon: Cytoplasm, Nucleus
iso: noTP | canon: noTP
M Mutation Landscape Not interesting
LLM reasoning
This is an N-terminal extension whose unique 24-aa region was never-coding (5'UTR/intron), so the germline constraint signals are uninterpretable by construction and cannot be used as evidence either way. The disease-density signal, which is valid here, is decisively negative: only 2 of 320 total disease-annotated variants fall in the unique region (enrichment ratio 0.11) and zero of the 8 pathogenic calls touch it — a direct query confirms zero ClinVar-annotated variants of any significance in the unique region. All 6 pathogenic variants on the isoform cluster far downstream in canonical sequence (isoform residues 163-377), well outside the added segment. There is also no start-lost variant anywhere on this isoform, so the alternative initiation codon itself shows no disruption signal. Together this argues against any disease relevance for the unique region rather than leaving the question open.
gnomAD variants 2.57× more in unique region — tolerant
Disease variants 8.83× less in unique region — depleted
P Predicted Structure Not interesting
LLM reasoning
The 24-residue N-terminal extension shows no compelling structural signal. Its one qualifying secondary-structure element (a 6-residue strand at isoform residues 7-12, pLDDT 0.775) is placed with a mean PAE of ~25.5 Å relative to the rest of the fold (residues 25-456) — essentially unresolved orientation despite locally folding, so it reads as a well-formed fragment dangling rather than an integrated element. The longer 14-residue helix spanning into the shared region falls below the confidence threshold (pLDDT 0.633) and is not credible. Contacts from the full extension are sparse (10 contacts, 4 partner residues) and cluster right at the junction with the shared core (residues 25-28), consistent with a floppy tail brushing the boundary rather than a docked interface. The shared/retained core is unaffected: RMSD 0.77 Å, TM-score 0.99, shared-region pLDDT ~0.92-0.93, and global pTM 0.92 (isoform) / 0.96 (canonical) — both high, so no real core refolding to weigh. Overall, folding confidence in the extension itself is moderate-to-low (mean 0.735, decaying from ~0.82 to ~0.6 across its length) with no evidence of docking against the core.
pLDDT Differential Region: 0.735
Shared-Region RMSD: 0.77 Å
1 secondary structure identified in unique region
S Structural Characteristics Not interesting
LLM reasoning
None of the three structural-characteristics submodules show a meaningful signal for this N-terminal extension. The added 24-aa segment overlaps zero real InterPro domains, so no domain gain/loss is implicated. The whole-protein biophysical shift is essentially null: gravy delta -0.0029, fraction-charged delta -0.0049, disorder delta 0.0004, all far below any distinguishing threshold despite some unique-region-vs-shared-region ratios (e.g., elevated pI and instability index) that reflect local composition of the short added tail rather than a whole-protein shift. The sparse-autoencoder magnitude check also falls short of criterion, with the strongest shared-feature activation shift at 7.70 against a threshold of 10.0; the large gained/lost feature counts (177/46) are expected background from adding new N-terminal sequence and carry no interpretive weight on their own. Taken together, this category offers no support for a distinctive fold, domain, or biophysical consequence of this extension.
No diverging domains
similar hydropathy · less charged (-0.09) · similar disorder
223 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 V→A missense_variant gnomAD — 2.49e-06 — N/A — chr5-892928-T-C
0 — frameshift_variant gnomAD — 7.48e-06 LoF — — chr5-892928-TGG-T
0 V→V synonymous_variant gnomAD — 8.27e-07 — N/A — chr5-892929-G-A
1 A→T missense_variant gnomAD — 4.95e-06 — N/A -2.69 chr5-892930-G-A
1 A→E missense_variant gnomAD — 8.25e-06 — N/A -1.94 chr5-892931-C-A
1 A→V missense_variant gnomAD — 2.47e-06 — N/A -2.05 chr5-892931-C-T
1 A→A synonymous_variant gnomAD — 1.64e-06 — N/A 0.00 chr5-892932-G-T
2 A→S missense_variant gnomAD — 1.64e-06 — N/A -2.23 chr5-892933-G-T
2 A→E missense_variant gnomAD — 4.09e-06 — N/A -2.31 chr5-892934-C-A
3 T→A missense_variant gnomAD — 1.06e-04 — N/A 2.52 chr5-892936-A-G
3 T→M missense_variant gnomAD — 7.27e-06 — N/A -1.42 chr5-892937-C-T
4 L→L synonymous_variant gnomAD — 8.03e-07 — N/A 0.00 chr5-892939-C-T
4 L→P missense_variant gnomAD — 8.83e-06 — N/A 0.30 chr5-892940-T-C
4 L→L synonymous_variant gnomAD — 7.99e-07 — N/A 0.00 chr5-892941-G-A
5 G→A missense_variant gnomAD — 6.35e-06 — N/A 0.20 chr5-892943-G-C
5 G→G synonymous_variant gnomAD — 7.96e-07 — N/A 0.00 chr5-892944-C-A
6 V→L missense_variant gnomAD — 5.54e-06 — N/A 0.81 chr5-892945-G-T
6 V→V synonymous_variant gnomAD — 1.42e-05 — N/A 0.00 chr5-892947-G-A
7 R→G missense_variant gnomAD — 2.45e-05 — N/A 0.39 chr5-892948-A-G
7 R→K missense_variant gnomAD — 7.85e-07 — N/A -2.12 chr5-892949-G-A
7 R→R synonymous_variant gnomAD — 2.35e-06 — N/A 0.00 chr5-892950-G-A
8 W→* stop_gained gnomAD — 7.80e-07 LoF — — chr5-892952-G-A
8 W→C missense_variant gnomAD — 7.79e-07 — N/A -0.22 chr5-892953-G-T
9 R→R synonymous_variant gnomAD — 7.81e-07 — N/A 0.00 chr5-892954-C-A
9 R→G missense_variant gnomAD — 7.81e-07 — N/A -0.18 chr5-892954-C-G
9 R→W missense_variant gnomAD — 6.41e-05 — N/A -1.82 chr5-892954-C-T
9 R→Q missense_variant gnomAD — 1.55e-06 — N/A -1.27 chr5-892955-G-A
9 R→R synonymous_variant gnomAD — 3.10e-06 — N/A 0.00 chr5-892956-G-A
9 R→R synonymous_variant gnomAD — 7.75e-07 — N/A 0.00 chr5-892956-G-C
9 R→R synonymous_variant gnomAD — 9.30e-06 — N/A 0.00 chr5-892956-G-T
10 R→W missense_variant gnomAD — 1.24e-05 — N/A -1.28 chr5-892957-C-T
10 R→R synonymous_variant gnomAD — 2.31e-06 — N/A 0.00 chr5-892959-G-A
10 R→R synonymous_variant gnomAD — 7.68e-07 — N/A 0.00 chr5-892959-G-T
11 P→A missense_variant gnomAD — 7.68e-07 — N/A -0.20 chr5-892960-C-G
11 P→L missense_variant gnomAD — 1.53e-06 — N/A -0.02 chr5-892961-C-T
12 R→C missense_variant gnomAD — 7.62e-07 — N/A -1.45 chr5-892963-C-T
12 R→H missense_variant gnomAD — 1.52e-06 — N/A -2.00 chr5-892964-G-A
12 R→P missense_variant gnomAD — 7.59e-07 — N/A -0.45 chr5-892964-G-C
12 R→L missense_variant gnomAD — 4.40e-05 — N/A -0.33 chr5-892964-G-T
12 R→R synonymous_variant gnomAD — 7.53e-07 — N/A 0.00 chr5-892965-C-T
13 P→T missense_variant gnomAD — 7.51e-07 — N/A -1.70 chr5-892966-C-A
13 P→S missense_variant gnomAD — 7.51e-07 — N/A -0.34 chr5-892966-C-T
13 P→R missense_variant gnomAD — 7.49e-07 — N/A 0.35 chr5-892967-C-G
13 P→L missense_variant gnomAD — 7.49e-07 — N/A -0.34 chr5-892967-C-T
14 G→R missense_variant gnomAD — 2.22e-06 — N/A 0.05 chr5-892969-G-C
14 G→C missense_variant gnomAD — 7.40e-07 — N/A -1.16 chr5-892969-G-T
14 G→D missense_variant gnomAD — 1.48e-06 — N/A -1.52 chr5-892970-G-A
14 G→A missense_variant gnomAD — 8.86e-06 — N/A -0.42 chr5-892970-G-C
14 G→V missense_variant gnomAD — 1.48e-06 — N/A -0.89 chr5-892970-G-T
15 W→S missense_variant gnomAD — 5.15e-06 — N/A 1.70 chr5-892973-G-C
15 W→* stop_gained gnomAD — 7.25e-07 LoF — — chr5-892974-G-A
15 W→C missense_variant gnomAD — 7.25e-07 — N/A 0.34 chr5-892974-G-C
15 W→C missense_variant gnomAD — 7.25e-07 — N/A 0.34 chr5-892974-G-T
16 V→L missense_variant gnomAD — 7.23e-07 — N/A -0.19 chr5-892975-G-C
16 V→A missense_variant gnomAD — 7.24e-07 — N/A 0.59 chr5-892976-T-C
16 — frameshift_variant gnomAD — 1.45e-06 LoF — — chr5-892976-TC-T
16 V→V synonymous_variant gnomAD — 1.52e-05 — N/A 0.00 chr5-892977-C-T
17 P→S missense_variant gnomAD — 1.44e-06 — N/A -0.02 chr5-892978-C-T
17 P→L missense_variant gnomAD — 7.17e-07 — N/A 0.05 chr5-892979-C-T
17 P→P synonymous_variant gnomAD — 9.31e-06 — N/A 0.00 chr5-892980-C-T
17 P→S missense_variant COSMIC — — — N/A -0.02 COSV99386195
18 T→A missense_variant gnomAD — 7.15e-07 — N/A 2.12 chr5-892981-A-G
18 T→S missense_variant gnomAD — 2.14e-06 — N/A 1.12 chr5-892982-C-G
18 T→I missense_variant gnomAD — 7.15e-07 — N/A -1.41 chr5-892982-C-T
18 T→T synonymous_variant gnomAD — 7.14e-07 — N/A 0.00 chr5-892983-T-C
19 A→T missense_variant gnomAD — 2.13e-06 — N/A -1.60 chr5-892984-G-A
19 A→V missense_variant gnomAD — 7.11e-07 — N/A -0.73 chr5-892985-C-T
19 A→A synonymous_variant gnomAD — 8.52e-06 — N/A 0.00 chr5-892986-T-C
20 L→F missense_variant gnomAD — 3.55e-06 — N/A -1.86 chr5-892987-C-T
20 — frameshift_variant gnomAD — 7.09e-07 LoF — — chr5-892988-TC-T
20 L→L synonymous_variant gnomAD — 9.21e-06 — N/A 0.00 chr5-892989-C-T
20 — frameshift_variant gnomAD — 2.13e-06 LoF — — chr5-892989-CG-C
21 G→R missense_variant gnomAD — 1.42e-06 — N/A -0.21 chr5-892990-G-A
21 G→R missense_variant gnomAD — 7.08e-07 — N/A -0.21 chr5-892990-G-C
21 G→E missense_variant gnomAD — 1.41e-06 — N/A -1.49 chr5-892991-G-A
21 — frameshift_variant gnomAD — 3.54e-06 LoF — — chr5-892991-G-GT
21 — frameshift_variant gnomAD — 9.84e-05 LoF — — chr5-892991-GGGGCGCCA-G
21 G→G synonymous_variant gnomAD — 7.35e-07 — N/A 0.00 chr5-892992-G-A
21 G→W missense_variant COSMIC — — — N/A -2.27 COSV99386181
22 G→D missense_variant gnomAD — 2.12e-06 — N/A -1.67 chr5-892994-G-A
22 G→V missense_variant gnomAD — 3.54e-06 — N/A -0.28 chr5-892994-G-T
22 G→G synonymous_variant gnomAD — 2.15e-06 — N/A 0.00 chr5-892995-C-T
23 A→T missense_variant gnomAD — 1.44e-06 — N/A -1.29 chr5-892996-G-A
23 A→P missense_variant gnomAD — 7.19e-07 — N/A -2.32 chr5-892996-G-C
23 A→S missense_variant gnomAD — 7.19e-07 — N/A -1.49 chr5-892996-G-T
23 A→D missense_variant gnomAD — 7.18e-07 — N/A -1.76 chr5-892997-C-A
23 — frameshift_variant gnomAD — 7.18e-07 LoF — — chr5-892997-C-CAGTAT
23 A→G missense_variant gnomAD — 1.44e-06 — N/A -0.87 chr5-892997-C-G
23 A→V missense_variant gnomAD — 7.18e-07 — N/A -1.27 chr5-892997-C-T
23 A→A synonymous_variant gnomAD — 2.11e-06 — N/A 0.00 chr5-892998-C-T
23 — frameshift_variant gnomAD — 1.41e-06 LoF — — chr5-892998-CAT-C
23 — frameshift_variant gnomAD — 7.05e-07 LoF — — chr5-892998-CATGGACG-C

92 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
24 M→L missense_variant gnomAD — 7.24e-07 — — -4.94 chr5-892999-A-C
24 — frameshift_variant gnomAD — 7.18e-07 LoF — — chr5-893000-TGGACGAGGCCG-T
25 D→V missense_variant gnomAD — 7.19e-05 — likely_benign (0.16) 0.09 chr5-893003-A-T
25 — frameshift_variant gnomAD — 7.11e-07 LoF — — chr5-893003-ACGAGGCCG-A
26 E→* stop_gained gnomAD — 7.16e-07 LoF — — chr5-893005-G-T
26 E→E synonymous_variant gnomAD — 2.13e-06 — — 0.00 chr5-893007-G-A
26 E→K missense_variant COSMIC — — — likely_benign (0.12) -1.27 COSV105036013
26 E→V missense_variant COSMIC — — — likely_benign (0.12) 0.64 COSV105036035
27 A→T missense_variant gnomAD — 7.07e-07 — likely_benign (0.10) -0.93 chr5-893008-G-A
27 A→A synonymous_variant gnomAD — 1.41e-06 — — 0.00 chr5-893010-C-T
28 V→M missense_variant gnomAD — 2.12e-06 — likely_benign (0.20) -0.98 chr5-893011-G-A
28 — frameshift_variant gnomAD — 7.08e-07 LoF — — chr5-893011-G-GTATCATTAAAA
28 V→L missense_variant gnomAD — 1.13e-05 — likely_benign (0.19) -0.06 chr5-893011-G-T
28 — frameshift_variant gnomAD — 7.04e-07 LoF — — chr5-893012-T-TAAAAA
28 — inframe_insertion gnomAD — 7.05e-07 — — — chr5-893012-T-TCATTAAAAA
28 V→L missense_variant ClinVar Uncertain significance — — likely_benign (0.19) -0.06 ClinVar:3633010
28 V→A missense_variant COSMIC — — — likely_benign (0.06) 1.01 COSV108034784
29 G→G synonymous_variant gnomAD — 3.49e-06 — — 0.00 chr5-893016-C-T
29 G→G synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4809615
30 D→N missense_variant gnomAD — 6.97e-07 — likely_benign (0.11) -0.88 chr5-893017-G-A
30 D→G missense_variant gnomAD — 1.39e-06 — likely_benign (0.12) 0.70 chr5-893018-A-G
31 L→V missense_variant gnomAD — 1.39e-06 — likely_benign (0.22) -0.02 chr5-893020-C-G
31 L→P missense_variant gnomAD — 1.39e-06 damaging likely_pathogenic (0.69) -0.16 chr5-893021-T-C
31 L→R missense_variant gnomAD — 1.39e-06 — ambiguous (0.54) -0.23 chr5-893021-T-G
31 L→P missense_variant COSMIC — — damaging likely_pathogenic (0.69) -0.16 COSV105036025
31 L→L synonymous_variant COSMIC — — — — 0.00 COSV108034775
32 K→K synonymous_variant gnomAD — 1.39e-06 — — 0.00 chr5-893025-G-A
33 Q→K missense_variant gnomAD — 6.94e-07 — likely_benign (0.07) -0.47 chr5-893026-C-A
33 Q→R missense_variant gnomAD — 6.94e-07 — likely_benign (0.08) -0.03 chr5-893027-A-G
33 Q→Q synonymous_variant gnomAD — 6.93e-07 — — 0.00 chr5-893028-G-A
34 A→G missense_variant gnomAD — 6.93e-07 — likely_benign (0.19) -0.25 chr5-893030-C-G
34 A→V missense_variant gnomAD — 6.93e-07 — likely_benign (0.23) -0.48 chr5-893030-C-T
34 A→A synonymous_variant gnomAD — 1.39e-06 — — 0.00 chr5-893031-G-A
34 A→A synonymous_variant COSMIC — — — — 0.00 COSV108034780
35 L→I missense_variant gnomAD — 1.39e-06 — likely_benign (0.14) -2.06 chr5-893032-C-A
35 L→L synonymous_variant gnomAD — 1.38e-06 — — 0.00 chr5-893034-T-A
36 P→S missense_variant gnomAD — 6.92e-07 — likely_benign (0.18) -0.08 chr5-893035-C-T
36 P→H missense_variant gnomAD — 2.08e-06 — likely_benign (0.23) -2.08 chr5-893036-C-A
36 P→L missense_variant gnomAD — 1.45e-05 — likely_benign (0.21) -0.58 chr5-893036-C-T
36 P→P synonymous_variant gnomAD — 6.92e-07 — — 0.00 chr5-893037-C-T
36 P→S missense_variant COSMIC — — — likely_benign (0.18) -0.08 COSV51320128
37 C→Y missense_variant gnomAD — 6.92e-07 — likely_benign (0.09) -1.72 chr5-893039-G-A
37 C→S missense_variant gnomAD — 6.92e-07 — likely_benign (0.07) 1.48 chr5-893039-G-C
37 C→F missense_variant gnomAD — 1.38e-06 — likely_benign (0.07) -0.50 chr5-893039-G-T
38 V→M missense_variant gnomAD — 6.92e-07 — likely_benign (0.11) -1.52 chr5-893041-G-A
39 A→S missense_variant gnomAD — 2.77e-06 — likely_benign (0.07) 0.21 chr5-893044-G-T
39 A→G missense_variant gnomAD — 6.92e-07 — likely_benign (0.07) -0.41 chr5-893045-C-G
39 A→V missense_variant gnomAD — 1.38e-06 — likely_benign (0.08) -1.05 chr5-893045-C-T
39 A→A synonymous_variant COSMIC — — — — 0.00 COSV99386577
40 E→K missense_variant gnomAD — 6.92e-07 — likely_benign (0.10) -1.86 chr5-893047-G-A
40 E→Q missense_variant gnomAD — 6.92e-07 — likely_benign (0.09) -0.47 chr5-893047-G-C
40 E→* stop_gained gnomAD — 6.92e-07 LoF — — chr5-893047-G-T
40 E→G missense_variant gnomAD — 6.92e-07 — likely_benign (0.07) 0.55 chr5-893048-A-G
40 E→E synonymous_variant gnomAD — 2.91e-05 — — 0.00 chr5-893049-G-A
40 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3031748
40 E→K missense_variant COSMIC — — — likely_benign (0.10) -1.86 COSV99386592
41 S→S synonymous_variant gnomAD — 6.92e-07 — — 0.00 chr5-893052-G-A
41 S→L missense_variant COSMIC — — — likely_benign (0.07) 1.05 COSV51320924
42 P→L missense_variant gnomAD — 6.92e-07 — likely_benign (0.07) -0.73 chr5-893054-C-T
43 T→A missense_variant gnomAD — 3.46e-06 — likely_benign (0.05) -0.53 chr5-893056-A-G
43 T→K missense_variant gnomAD — 2.07e-06 — likely_benign (0.11) -3.48 chr5-893057-C-A
43 T→R missense_variant gnomAD — 6.92e-07 — likely_benign (0.08) -2.08 chr5-893057-C-G
43 T→M missense_variant gnomAD — 1.38e-06 — likely_benign (0.07) -2.64 chr5-893057-C-T
44 V→I missense_variant gnomAD — 6.91e-07 — likely_benign (0.07) -1.28 chr5-893059-G-A
44 V→V synonymous_variant gnomAD — 3.46e-06 — — 0.00 chr5-893061-C-G
44 V→V synonymous_variant gnomAD — 6.22e-06 — — 0.00 chr5-893061-C-T
45 H→H synonymous_variant gnomAD — 6.92e-07 — — 0.00 chr5-893064-C-T
46 V→M missense_variant gnomAD — 6.92e-07 damaging likely_pathogenic (0.75) -5.81 chr5-893065-G-A
46 V→A missense_variant gnomAD — 6.92e-07 damaging likely_pathogenic (0.63) -6.06 chr5-893066-T-C
46 V→G missense_variant gnomAD — 6.92e-07 damaging likely_pathogenic (0.89) -8.69 chr5-893066-T-G
46 V→V synonymous_variant COSMIC — — — — 0.00 COSV51320161
47 E→K missense_variant COSMIC — — damaging likely_pathogenic (0.96) -8.37 COSV51320547
47 E→A missense_variant COSMIC — — damaging likely_pathogenic (0.83) -7.47 COSV105846268
47 E→D missense_variant COSMIC — — damaging likely_pathogenic (0.89) -7.94 COSV51320390
48 V→A missense_variant gnomAD — 6.92e-07 damaging likely_pathogenic (0.82) -6.87 chr5-893072-T-C
48 V→V synonymous_variant gnomAD — 6.92e-07 — — 0.00 chr5-893073-G-A
48 V→G missense_variant COSMIC — — damaging likely_pathogenic (0.85) -9.15 COSV51320204
48 V→V synonymous_variant COSMIC — — — — 0.00 COSV51319552
49 H→Y missense_variant gnomAD — 6.92e-07 — likely_benign (0.09) -3.19 chr5-893074-C-T
49 H→P missense_variant gnomAD — 6.92e-07 damaging likely_pathogenic (0.65) -10.08 chr5-893075-A-C
49 H→R missense_variant gnomAD — 4.85e-06 — likely_benign (0.10) -4.99 chr5-893075-A-G
49 H→L missense_variant gnomAD — 4.15e-06 — likely_benign (0.06) -4.61 chr5-893075-A-T
49 H→R missense_variant ClinVar Conflicting classifications of pathogenicity — — likely_benign (0.10) -4.99 ClinVar:977641
50 Q→R missense_variant gnomAD — 6.93e-07 — likely_benign (0.19) -5.08 chr5-893078-A-G
50 Q→L missense_variant gnomAD — 3.46e-06 — likely_benign (0.13) -5.61 chr5-893078-A-T
50 Q→H missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.78) -5.89 ClinVar:4191303
51 R→S missense_variant gnomAD — 2.98e-05 — likely_benign (0.21) -2.38 chr5-893080-C-A
51 R→H missense_variant gnomAD — 6.93e-07 — likely_benign (0.09) -2.81 chr5-893081-G-A
51 R→L missense_variant gnomAD — 6.93e-07 — likely_benign (0.10) -2.91 chr5-893081-G-T
51 R→R synonymous_variant gnomAD — 6.24e-06 — — 0.00 chr5-893082-C-T
51 R→S missense_variant ClinVar Uncertain significance — — likely_benign (0.21) -2.38 ClinVar:2619857
51 R→C missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -4.00 ClinVar:4705278
51 R→C missense_variant COSMIC — — — likely_benign (0.10) -4.00 COSV107241806
52 G→R missense_variant gnomAD — 6.94e-07 — likely_benign (0.17) -2.36 chr5-893083-G-C
52 G→C missense_variant gnomAD — 1.39e-06 — likely_benign (0.08) -1.52 chr5-893083-G-T
52 G→V missense_variant gnomAD — 1.39e-06 — likely_benign (0.09) -0.03 chr5-893084-G-T
52 G→G synonymous_variant gnomAD — 6.94e-07 — — 0.00 chr5-893085-C-G
52 G→S missense_variant COSMIC — — — likely_benign (0.07) 2.11 COSV51322106
53 S→R missense_variant gnomAD — 6.95e-07 — likely_benign (0.19) -3.52 chr5-893088-C-G
54 S→R missense_variant gnomAD — 6.95e-07 damaging likely_pathogenic (0.98) -9.31 chr5-893089-A-C
55 T→A missense_variant gnomAD — 4.51e-05 — likely_benign (0.08) -3.24 chr5-894788-A-G
55 T→I missense_variant gnomAD — 1.66e-05 — likely_benign (0.14) -3.95 chr5-894789-C-T
55 T→T synonymous_variant gnomAD — 6.92e-07 — — 0.00 chr5-894790-T-A
55 T→A missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -3.24 ClinVar:3693253
56 A→V missense_variant gnomAD — 6.93e-07 — likely_benign (0.15) -3.78 chr5-894792-C-T
56 — frameshift_variant gnomAD — 2.08e-06 LoF — — chr5-894792-CAAAG-C
56 A→A synonymous_variant gnomAD — 2.08e-06 — — 0.00 chr5-894793-A-G
56 A→V missense_variant ClinVar Uncertain significance — — likely_benign (0.15) -3.78 ClinVar:3664466
57 K→E missense_variant gnomAD — 3.46e-06 — likely_benign (0.16) -4.51 chr5-894794-A-G
57 K→K synonymous_variant COSMIC — — — — 0.00 COSV51321077
59 E→G missense_variant gnomAD — 6.90e-07 — likely_benign (0.10) -4.47 chr5-894801-A-G
60 D→N missense_variant gnomAD — 6.89e-07 — likely_benign (0.13) -3.01 chr5-894803-G-A
60 D→G missense_variant gnomAD — 6.88e-07 — likely_benign (0.23) -6.12 chr5-894804-A-G
60 D→N missense_variant COSMIC — — — likely_benign (0.13) -3.01 COSV99386157
62 N→H missense_variant gnomAD — 2.06e-06 — likely_benign (0.05) -2.25 chr5-894809-A-C
62 N→K missense_variant gnomAD — 3.43e-06 — likely_benign (0.06) 5.99 chr5-894811-C-A
62 N→S missense_variant COSMIC — — — likely_benign (0.06) -1.06 COSV104552358
63 L→L synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr5-894812-C-T
63 L→R missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -3.29 chr5-894813-T-G
63 L→L synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-894814-G-A
64 S→G missense_variant gnomAD — 6.86e-07 — likely_benign (0.08) -5.11 chr5-894815-A-G
64 S→S synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr5-894817-T-C
64 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:747571
65 V→I missense_variant gnomAD — 6.85e-07 — likely_benign (0.11) -2.94 chr5-894818-G-A
66 R→K missense_variant gnomAD — 6.85e-07 — likely_benign (0.07) -1.40 chr5-894822-G-A
66 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-894823-A-G
67 K→R missense_variant gnomAD — 6.85e-07 — likely_benign (0.07) -3.76 chr5-894825-A-G
67 K→K synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-894826-G-A
67 K→N missense_variant gnomAD — 6.85e-07 — likely_benign (0.21) -3.40 chr5-894826-G-C
68 L→V missense_variant gnomAD — 6.85e-07 — likely_benign (0.28) -5.26 chr5-894827-C-G
68 L→L synonymous_variant gnomAD — 1.10e-05 — — 0.00 chr5-894827-C-T
68 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-894829-A-C
68 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-894829-A-G
68 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4804266
68 L→L synonymous_variant COSMIC — — — — 0.00 COSV99386230
69 L→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.27) -6.46 chr5-894830-C-G
70 N→D missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -3.18 chr5-894833-A-G
70 N→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.06) -2.52 chr5-894834-A-G
70 N→I missense_variant gnomAD — 1.37e-06 — likely_benign (0.14) -6.30 chr5-894834-A-T
70 N→N synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894835-C-T
70 N→S missense_variant ClinVar Uncertain significance — — likely_benign (0.06) -2.52 ClinVar:3592818
71 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894836-A-C
71 R→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.70) -5.10 chr5-894838-A-C
72 H→Q missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.76) -4.56 chr5-894841-T-G
73 N→N synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr5-894844-T-C
73 N→K missense_variant ClinVar Uncertain significance — — likely_benign (0.17) -3.40 ClinVar:3973872
73 N→S missense_variant COSMIC — — — likely_benign (0.06) -2.06 COSV51321559
74 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.06) -2.75 chr5-894845-A-G
74 I→T missense_variant gnomAD — 1.78e-05 — likely_benign (0.16) -4.22 chr5-894846-T-C
74 I→I synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-894847-T-A
74 I→I synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr5-894847-T-C
75 V→M missense_variant gnomAD — 2.74e-06 — ambiguous (0.44) -5.34 chr5-894848-G-A
75 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894850-G-T
79 Y→H missense_variant gnomAD — 6.84e-07 — ambiguous (0.39) -4.08 chr5-894860-T-C
79 Y→C missense_variant gnomAD — 6.84e-07 — likely_benign (0.15) -3.91 chr5-894861-A-G
79 Y→Y synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-894862-C-T
80 T→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -6.09 chr5-894863-A-G
80 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894865-A-G
81 W→R missense_variant gnomAD — 8.89e-06 damaging likely_pathogenic (0.99) -8.15 chr5-894866-T-C
81 — mnv COSMIC — — — — — COSV51320991
82 T→A missense_variant gnomAD — 1.51e-05 — likely_benign (0.08) -5.10 chr5-894869-A-G
82 T→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -4.73 chr5-894870-C-T
83 E→Q missense_variant gnomAD — 1.37e-06 — likely_benign (0.26) -5.28 chr5-894872-G-C
83 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894874-G-A
85 D→H missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.77) -8.05 chr5-894878-G-C
85 D→G missense_variant gnomAD — 2.74e-06 — ambiguous (0.50) -7.30 chr5-894879-A-G
85 D→G missense_variant COSMIC — — — ambiguous (0.50) -7.30 COSV99386252
87 P→S missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) -3.79 chr5-894884-C-T
87 P→L missense_variant gnomAD — 1.37e-06 — likely_benign (0.09) -3.82 chr5-894885-C-T
87 P→P synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-894886-T-C
87 P→L missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -3.82 ClinVar:4599378
89 L→M missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.50) -7.62 chr5-894890-T-A
89 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894892-G-A
90 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894895-C-G
91 R→G missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) 1.62 chr5-894896-A-G
91 R→K missense_variant COSMIC — — — likely_benign (0.07) 1.88 COSV51322600
92 N→N synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-894901-T-C
92 N→D missense_variant ClinVar Uncertain significance — — ambiguous (0.53) -5.56 ClinVar:3654221
92 N→N synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4809062
94 Q→H missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -3.41 chr5-894907-G-T
95 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-894909-CTG-C
96 V→V synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-894913-G-A
96 V→L missense_variant COSMIC — — — ambiguous (0.54) -5.22 COSV51320602
96 V→L missense_variant COSMIC — — — ambiguous (0.54) -5.22 COSV99386197
96 V→A missense_variant COSMIC — — damaging likely_pathogenic (0.85) -6.41 COSV51321113
96 V→V synonymous_variant COSMIC — — — — 0.00 COSV105036056
97 S→S synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-894916-T-A
98 I→L missense_variant gnomAD — 6.85e-07 — likely_benign (0.20) -5.03 chr5-894917-A-C
98 I→V missense_variant gnomAD — 3.49e-05 — likely_benign (0.06) -2.37 chr5-894917-A-G
98 I→T missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.91) -6.68 chr5-894918-T-C
98 I→I synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-894919-T-A
98 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.06) -2.37 ClinVar:3182932
99 I→V missense_variant gnomAD — 6.85e-07 — likely_benign (0.05) 4.56 chr5-894920-A-G
99 I→N missense_variant gnomAD — 2.05e-06 — likely_benign (0.17) -5.84 chr5-894921-T-A
99 I→T missense_variant gnomAD — 6.85e-07 — likely_benign (0.06) -1.78 chr5-894921-T-C
99 I→I synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-894922-T-A
100 D→E missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.68) -5.68 chr5-894925-C-G
100 D→H missense_variant ClinVar — — damaging likely_pathogenic (0.92) -7.65 ClinVar:4318857
100 D→Y missense_variant COSMIC — — damaging likely_pathogenic (0.85) -7.96 COSV99386415
101 T→I missense_variant gnomAD — 6.85e-07 — ambiguous (0.35) -4.22 chr5-894927-C-T
101 T→A missense_variant ClinVar Uncertain significance — — likely_benign (0.12) -3.54 ClinVar:3668760
101 T→I missense_variant COSMIC — — — ambiguous (0.35) -4.22 COSV51321347
102 — inframe_insertion gnomAD — 6.86e-07 — — — chr5-894930-A-ACACAGGTCT
103 L→* stop_gained gnomAD — 6.86e-07 LoF — — chr5-894933-T-G
103 — frameshift_variant gnomAD — 6.86e-07 LoF — — chr5-894934-AAAGG-A
104 K→K synonymous_variant gnomAD — 6.18e-06 — — 0.00 chr5-894937-G-A
105 V→I missense_variant gnomAD — 3.23e-05 — likely_benign (0.07) -1.00 chr5-894938-G-A
105 — inframe_deletion gnomAD — 6.87e-07 — — — chr5-894940-TAAA-T
105 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -1.00 ClinVar:2893946
107 D→N missense_variant gnomAD — 6.88e-07 — likely_benign (0.08) -2.98 chr5-894944-G-A
107 D→Y missense_variant gnomAD — 6.88e-07 — likely_benign (0.12) -5.32 chr5-894944-G-T
107 — frameshift_variant gnomAD — 6.88e-07 LoF — — chr5-894945-ACT-A
107 D→N missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -2.98 ClinVar:3638274
108 S→* stop_gained gnomAD — 6.89e-07 LoF — — chr5-894948-C-G
108 S→S synonymous_variant gnomAD — 1.52e-05 — — 0.00 chr5-894949-A-G
108 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3630059
109 Q→R missense_variant gnomAD — 2.07e-06 — likely_benign (0.08) -2.71 chr5-894951-A-G
109 Q→Q synonymous_variant gnomAD — 6.90e-07 — — 0.00 chr5-894952-G-A
109 Q→L missense_variant COSMIC — — — likely_benign (0.11) -3.29 COSV51320277
110 P→T missense_variant gnomAD — 6.88e-07 — ambiguous (0.34) -5.23 chr5-896665-C-A
110 P→P synonymous_variant gnomAD — 6.89e-07 — — 0.00 chr5-896667-C-A
110 P→P synonymous_variant gnomAD — 1.38e-06 — — 0.00 chr5-896667-C-T
111 I→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) -1.81 chr5-896668-A-G
111 I→I synonymous_variant gnomAD — 8.80e-05 — — 0.00 chr5-896670-C-T
111 I→I synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:2844884
112 D→N missense_variant gnomAD — 2.06e-06 — likely_benign (0.09) -3.12 chr5-896671-G-A
112 D→H missense_variant gnomAD — 2.06e-06 — likely_benign (0.31) -5.39 chr5-896671-G-C
112 D→Y missense_variant gnomAD — 1.37e-06 — likely_benign (0.25) -5.83 chr5-896671-G-T
112 D→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.24) -5.86 chr5-896672-A-T
112 D→E missense_variant gnomAD — 2.75e-06 — likely_benign (0.34) -4.08 chr5-896673-T-G
112 D→Y missense_variant COSMIC — — — likely_benign (0.25) -5.83 COSV51319971
112 D→N missense_variant COSMIC — — — likely_benign (0.09) -3.12 COSV51319223
113 L→M missense_variant gnomAD — 6.87e-07 — likely_benign (0.25) -4.96 chr5-896674-T-A
113 L→L synonymous_variant gnomAD — 1.37e-05 — — 0.00 chr5-896674-T-C
113 L→W missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (0.76) -9.74 chr5-896675-T-G
113 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3692620
115 A→E missense_variant gnomAD — 1.57e-05 — likely_benign (0.14) -2.59 chr5-896681-C-A
115 A→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -1.30 chr5-896681-C-T
115 A→E missense_variant ClinVar Uncertain significance — — likely_benign (0.14) -2.59 ClinVar:2213522
116 C→R missense_variant gnomAD — 3.22e-04 — likely_benign (0.32) -5.72 chr5-896683-T-C
116 C→R missense_variant ClinVar Benign — — likely_benign (0.32) -5.72 ClinVar:726741
117 T→P missense_variant gnomAD — 3.42e-06 — likely_benign (0.08) -3.12 chr5-896686-A-C
117 T→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) -2.01 chr5-896686-A-G
117 T→A missense_variant ClinVar Uncertain significance — — likely_benign (0.06) -2.01 ClinVar:3810767
118 V→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -3.26 chr5-896690-T-C
119 A→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -3.64 chr5-896693-C-G
119 A→A synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr5-896694-A-G
120 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -3.00 chr5-896695-C-T
120 L→L synonymous_variant gnomAD — 1.57e-05 — — 0.00 chr5-896697-T-G
121 H→Y missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -4.61 chr5-896698-C-T
121 H→R missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.39) -9.05 chr5-896699-A-G
121 H→H synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-896700-C-T
122 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-896703-T-A
123 F→V missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.80) -7.43 chr5-896704-T-G
123 F→Y missense_variant gnomAD — 6.84e-07 — likely_benign (0.27) -5.18 chr5-896705-T-A
123 F→F synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-896706-C-T
124 Q→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -2.34 chr5-896708-A-G
124 Q→* stop_gained COSMIC — — LoF — — COSV51319257
126 N→S missense_variant gnomAD — 1.57e-05 — likely_benign (0.06) -3.63 chr5-896714-A-G
128 D→G missense_variant gnomAD — 1.37e-06 — likely_benign (0.13) -5.77 chr5-896720-A-G
128 D→H missense_variant COSMIC — — — likely_benign (0.30) -7.40 COSV51321472
129 G→D missense_variant gnomAD — 6.84e-07 — ambiguous (0.54) -7.43 chr5-896723-G-A
129 G→S missense_variant COSMIC — — — likely_benign (0.18) -5.96 COSV99386581
129 G→D missense_variant COSMIC — — — ambiguous (0.54) -7.43 COSV51320146
129 G→V missense_variant COSMIC — — damaging likely_benign (0.28) -7.74 COSV51319540
130 P→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.11) -2.60 chr5-896725-C-G
130 P→H missense_variant gnomAD — 6.16e-06 damaging likely_pathogenic (0.67) -7.46 chr5-896726-C-A
130 P→R missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.71) -8.02 chr5-896726-C-G
130 P→L missense_variant gnomAD — 2.74e-06 — ambiguous (0.36) -5.30 chr5-896726-C-T
130 P→H missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.67) -7.46 ClinVar:4754954
130 P→L missense_variant ClinVar Uncertain significance — — ambiguous (0.36) -5.30 ClinVar:4808043
130 P→H missense_variant COSMIC — — damaging likely_pathogenic (0.67) -7.46 COSV99386622
130 P→T missense_variant COSMIC — — — ambiguous (0.37) -5.68 COSV51321307
131 S→R missense_variant gnomAD — 1.37e-06 — ambiguous (0.50) -6.00 chr5-896728-A-C
131 S→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -2.62 chr5-896728-A-G
132 S→N missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -4.91 chr5-896732-G-A
132 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-896733-T-C
132 S→R missense_variant COSMIC — — — ambiguous (0.50) -6.35 COSV51322915
134 N→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -3.57 chr5-896738-A-C
136 E→Q missense_variant gnomAD — 5.47e-06 — likely_benign (0.16) -3.26 chr5-896743-G-C
136 E→Q missense_variant ClinVar Uncertain significance — — likely_benign (0.16) -3.26 ClinVar:3667927
136 E→Q missense_variant COSMIC — — — likely_benign (0.16) -3.26 COSV51320627
137 E→K missense_variant gnomAD — 1.37e-06 — likely_benign (0.20) -6.25 chr5-896746-G-A
137 E→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -6.40 chr5-896747-A-T
137 E→* stop_gained COSMIC — — LoF — — COSV51319923
138 E→K missense_variant gnomAD — 3.42e-06 — likely_benign (0.20) -5.82 chr5-896749-G-A
139 T→R missense_variant gnomAD — 3.42e-06 — likely_benign (0.15) -1.59 chr5-896753-C-G
139 T→T synonymous_variant gnomAD — 2.33e-04 — — 0.00 chr5-896754-A-G
139 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:746971
140 E→K missense_variant gnomAD — 6.84e-07 — ambiguous (0.34) -7.06 chr5-896755-G-A
140 E→Q missense_variant gnomAD — 6.84e-07 — likely_benign (0.27) -6.43 chr5-896755-G-C
140 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-896757-A-G
141 N→D missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) 1.10 chr5-896758-A-G
141 N→N synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-896760-C-T
142 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -1.31 chr5-896761-A-G
142 I→I synonymous_variant COSMIC — — — — 0.00 COSV51321253
143 I→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) 2.82 chr5-896765-T-C
143 I→T missense_variant COSMIC — — — likely_benign (0.08) 2.82 COSV107241810
144 A→G missense_variant gnomAD — 5.47e-06 — ambiguous (0.40) -6.48 chr5-896768-C-G
145 A→E missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -9.99 chr5-896771-C-A
145 A→A synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-896772-A-G
146 N→K missense_variant gnomAD — 6.84e-07 — ambiguous (0.46) -5.54 chr5-896775-T-G
146 N→K missense_variant COSMIC — — — ambiguous (0.46) -5.54 COSV99386241
147 H→Y missense_variant gnomAD — 6.84e-06 — likely_benign (0.22) -5.71 chr5-896776-C-T
147 H→Q missense_variant gnomAD — 6.84e-07 — ambiguous (0.35) -5.46 chr5-896778-C-G
148 W→R missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -8.24 chr5-896779-T-C
150 L→L synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-896787-A-C
150 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-896787-A-G
151 P→P synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-896790-T-C
151 P→P synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-896790-T-G
151 P→H missense_variant COSMIC — — damaging likely_pathogenic (1.00) -10.87 COSV51319282
152 A→V missense_variant COSMIC — — — ambiguous (0.40) -6.06 COSV51321739
153 A→T missense_variant gnomAD — 1.92e-05 — likely_benign (0.08) -2.90 chr5-896794-G-A
153 A→T missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -2.90 ClinVar:3356883
154 E→E synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-900498-A-G
155 F→Y missense_variant gnomAD — 6.85e-07 damaging ambiguous (0.37) -7.78 chr5-900500-T-A
156 H→R missense_variant gnomAD — 6.85e-07 — likely_benign (0.16) -5.81 chr5-900503-A-G
159 W→R missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (1.00) -11.31 chr5-900511-T-C
159 W→* stop_gained gnomAD — 6.85e-07 LoF — — chr5-900512-G-A
159 W→* stop_gained COSMIC — — LoF — — COSV51320006
160 D→N missense_variant COSMIC — — — likely_benign (0.15) -5.25 COSV51320023
162 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-900520-T-C
163 V→I missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) -1.50 chr5-900523-G-A
163 V→A missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.65) -6.34 chr5-900524-T-C
163 V→G missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.71) -10.78 chr5-900524-T-G
163 — frameshift_variant ClinVar Likely pathogenic — LoF — — ClinVar:3910602
164 Y→H missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.93) -7.89 chr5-900526-T-C
164 Y→Y synonymous_variant gnomAD — 2.06e-05 — — 0.00 chr5-900528-C-T
164 Y→H missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.93) -7.89 ClinVar:2275737
164 Y→Y synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3061491
165 D→N missense_variant gnomAD — 1.37e-06 — ambiguous (0.35) -6.65 chr5-900529-G-A
165 D→E missense_variant gnomAD — 1.92e-05 — ambiguous (0.37) -4.93 chr5-900531-T-A
165 D→D synonymous_variant gnomAD — 1.99e-05 — — 0.00 chr5-900531-T-C
165 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2900094
165 D→N missense_variant COSMIC — — — ambiguous (0.35) -6.65 COSV105846270
167 E→K missense_variant gnomAD — 6.85e-07 — likely_benign (0.12) -4.44 chr5-900535-G-A
167 E→Q missense_variant gnomAD — 6.85e-07 — likely_benign (0.11) -2.88 chr5-900535-G-C
167 E→E synonymous_variant gnomAD — 3.43e-06 — — 0.00 chr5-900537-A-G
167 E→K missense_variant COSMIC — — — likely_benign (0.12) -4.44 COSV51321921
168 V→V synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-900540-C-T
170 S→C missense_variant gnomAD — 6.85e-07 — likely_benign (0.09) -5.05 chr5-900545-C-G
170 S→F missense_variant gnomAD — 6.85e-07 — likely_benign (0.19) -7.02 chr5-900545-C-T
170 S→S synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr5-900546-C-T
170 S→F missense_variant ClinVar Uncertain significance — — likely_benign (0.19) -7.02 ClinVar:3723022
170 S→F missense_variant COSMIC — — — likely_benign (0.19) -7.02 COSV51322127
171 H→L missense_variant gnomAD — 2.06e-06 — likely_benign (0.10) -7.09 chr5-900548-A-T
171 H→H synonymous_variant gnomAD — 8.91e-06 — — 0.00 chr5-900549-T-C
171 H→Q missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) -3.31 chr5-900549-T-G
171 H→H synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:4799671
172 L→L synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-901343-C-G
172 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3693362
173 L→L synonymous_variant gnomAD — 9.58e-06 — — 0.00 chr5-901346-C-T
174 D→N missense_variant gnomAD — 4.11e-06 — likely_benign (0.11) -2.12 chr5-901347-G-A
174 D→H missense_variant COSMIC — — — likely_benign (0.29) -6.72 COSV51319330
175 Y→Y synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901352-T-C
175 Y→C missense_variant COSMIC — — damaging likely_pathogenic (0.62) -7.94 COSV51319756
176 V→M missense_variant gnomAD — 2.05e-06 — likely_benign (0.28) -5.02 chr5-901353-G-A
176 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901355-G-A
177 M→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -2.36 chr5-901356-A-G
177 M→K missense_variant gnomAD — 6.84e-07 — likely_benign (0.20) -0.98 chr5-901357-T-A
178 T→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.22) -5.81 chr5-901359-A-G
178 T→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.93) -8.62 chr5-901360-C-T
179 T→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -4.79 chr5-901362-A-G
179 T→T synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr5-901364-T-C
180 L→S missense_variant gnomAD — 2.05e-05 damaging likely_pathogenic (0.78) -8.61 chr5-901366-T-C
180 L→S missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.78) -8.61 ClinVar:4599377
180 L→* stop_gained COSMIC — — LoF — — COSV51320528
181 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901368-C-T
183 S→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -9.65 chr5-901374-T-C
183 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901376-A-C
183 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901376-A-G
184 D→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.21) -4.77 chr5-901379-C-A
184 D→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.21) -4.77 chr5-901379-C-G
184 D→E missense_variant COSMIC — — — likely_benign (0.21) -4.77 COSV51322233
184 D→E missense_variant COSMIC — — — likely_benign (0.21) -4.77 COSV51321134
185 K→R missense_variant gnomAD — 2.05e-06 — likely_benign (0.06) -0.06 chr5-901381-A-G
185 K→N missense_variant gnomAD — 6.84e-07 — ambiguous (0.55) -5.76 chr5-901382-G-C
185 K→N missense_variant gnomAD — 6.84e-07 — ambiguous (0.55) -5.76 chr5-901382-G-T
185 K→R missense_variant ClinVar Uncertain significance — — likely_benign (0.06) -0.06 ClinVar:3690826
185 K→E missense_variant COSMIC — — — likely_benign (0.21) -7.17 COSV51321169
186 N→D missense_variant gnomAD — 2.05e-06 — likely_benign (0.09) -5.37 chr5-901383-A-G
186 N→N synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr5-901385-C-T
186 N→D missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -5.37 ClinVar:4191300
187 V→I missense_variant gnomAD — 1.78e-05 — likely_benign (0.11) -3.56 chr5-901386-G-A
187 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.11) -3.56 ClinVar:3668542
187 V→F missense_variant COSMIC — — damaging likely_pathogenic (0.89) -10.53 COSV51320514
188 N→T missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.31) -9.48 chr5-901390-A-C
188 N→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -5.64 chr5-901390-A-G
189 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901394-C-T
189 S→N missense_variant ClinVar Uncertain significance — damaging likely_benign (0.16) -7.67 ClinVar:4811229
190 N→N synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-901397-C-T
191 L→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -3.70 chr5-901398-C-G
191 L→V missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -3.70 ClinVar:3632004
192 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901403-C-T
192 I→I synonymous_variant COSMIC — — — — 0.00 COSV99386477
193 T→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) -0.19 chr5-901404-A-G
193 T→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) 0.88 chr5-901405-C-G
193 T→I missense_variant gnomAD — 6.84e-07 — ambiguous (0.45) -5.20 chr5-901405-C-T
193 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:742921
194 W→* stop_gained COSMIC — — LoF — — COSV51322442
194 W→C missense_variant COSMIC — — damaging likely_pathogenic (0.72) -5.75 COSV51320323
195 N→S missense_variant gnomAD — 1.64e-05 damaging likely_pathogenic (0.73) -7.28 chr5-901411-A-G
195 N→N synonymous_variant gnomAD — 5.48e-04 — — 0.00 chr5-901412-C-T
195 N→N synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:725450
195 N→S missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.73) -7.28 ClinVar:3351015
196 R→W missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.90) -10.30 chr5-901413-C-T
196 R→Q missense_variant gnomAD — 1.09e-05 — ambiguous (0.50) -6.59 chr5-901414-G-A
196 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901415-G-A
196 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901415-G-C
196 R→Q missense_variant ClinVar Pathogenic — — ambiguous (0.50) -6.59 ClinVar:977642
197 V→L missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.64) -6.43 chr5-901416-G-C
197 V→V synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-901418-G-A
198 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-901421-G-A
199 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901422-C-T
199 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901424-G-A
199 L→L synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr5-901424-G-T
200 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-901427-C-T
200 L→L synonymous_variant COSMIC — — — — 0.00 COSV51319834
201 H→Y missense_variant gnomAD — 3.49e-05 — likely_benign (0.17) -2.12 chr5-901428-C-T
201 H→H synonymous_variant gnomAD — 6.02e-05 — — 0.00 chr5-901430-C-T
201 H→Y missense_variant ClinVar Uncertain significance — — likely_benign (0.17) -2.12 ClinVar:3691044
201 H→H synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:3716709
201 H→H synonymous_variant COSMIC — — — — 0.00 COSV51321376
202 G→S missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.98) -10.06 chr5-901431-G-A
202 G→S missense_variant COSMIC — — damaging likely_pathogenic (0.98) -10.06 COSV99386493
203 P→P synonymous_variant gnomAD — 6.88e-07 — — 0.00 chr5-904152-T-A
204 P→T missense_variant gnomAD — 6.88e-07 damaging likely_pathogenic (0.89) -8.69 chr5-904153-C-A
204 P→S missense_variant gnomAD — 6.88e-07 damaging likely_pathogenic (0.88) -8.12 chr5-904153-C-T
207 G→E missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (1.00) -12.00 chr5-904163-G-A
208 K→R missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.90) -10.87 ClinVar:4191304
209 T→P missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (0.98) -11.44 chr5-904168-A-C
209 T→I missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (1.00) -11.00 chr5-904169-C-T
209 — inframe_deletion gnomAD — 6.87e-07 — — — chr5-904169-CATCCCTGTGTAAAGCGTT-C
210 S→T missense_variant gnomAD — 6.86e-07 — likely_benign (0.33) -6.37 chr5-904171-T-A
210 S→C missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.96) -8.69 chr5-904172-C-G
210 S→S synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr5-904173-C-A
210 S→S synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr5-904173-C-T
210 S→S synonymous_variant COSMIC — — — — 0.00 COSV105036002
211 L→L synonymous_variant gnomAD — 2.61e-05 — — 0.00 chr5-904174-C-T
211 L→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (1.00) -12.00 chr5-904175-T-C
211 L→L synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr5-904176-G-T
211 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4706269
212 C→S missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.77) -6.44 chr5-904177-T-A
212 C→W missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (1.00) -12.00 chr5-904179-T-G
212 C→C synonymous_variant COSMIC — — — — 0.00 COSV51321033
214 A→V missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.98) -8.31 chr5-904184-C-T
214 A→A synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-904185-G-A
214 A→V missense_variant COSMIC — — damaging likely_pathogenic (0.98) -8.31 COSV99031697
214 A→A synonymous_variant COSMIC — — — — 0.00 COSV51320182
215 L→V missense_variant COSMIC — — — likely_benign (0.24) -6.71 COSV51319689
216 A→A synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr5-904191-C-G
217 Q→* stop_gained COSMIC — — LoF — — COSV51320231
217 Q→H missense_variant COSMIC — — damaging likely_pathogenic (0.70) -4.43 COSV51319893
219 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-904198-T-C
219 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4808792
220 T→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -0.56 chr5-904201-A-G
220 T→T synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr5-904203-A-G
221 I→M missense_variant gnomAD — 6.87e-07 damaging ambiguous (0.38) -8.47 chr5-904206-T-G
221 I→V missense_variant ClinVar Pathogenic — — likely_benign (0.07) -3.50 ClinVar:977644
221 I→S missense_variant COSMIC — — damaging likely_pathogenic (0.89) -10.59 COSV51319723
224 S→L missense_variant gnomAD — 1.37e-05 damaging likely_benign (0.17) -8.48 chr5-904214-C-T
224 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-904215-A-T
224 S→L missense_variant ClinVar Uncertain significance — damaging likely_benign (0.17) -8.48 ClinVar:3182933
224 S→* stop_gained COSMIC — — LoF — — COSV51319387
227 Y→H missense_variant COSMIC — — damaging likely_pathogenic (0.83) -6.37 COSV51319861
228 R→R synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr5-907134-C-A
228 R→Q missense_variant gnomAD — 1.53e-04 — likely_benign (0.08) -4.85 chr5-907135-G-A
228 R→Q missense_variant ClinVar Likely benign — — likely_benign (0.08) -4.85 ClinVar:790007
228 R→* stop_gained COSMIC — — LoF — — COSV51320645
229 Y→C missense_variant gnomAD — 7.53e-06 — likely_benign (0.16) -5.14 chr5-907138-A-G
229 Y→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -5.74 chr5-907138-A-T
229 Y→C missense_variant COSMIC — — — likely_benign (0.16) -5.14 COSV99386460
230 G→S missense_variant gnomAD — 2.74e-06 — likely_benign (0.34) -6.25 chr5-907140-G-A
230 G→D missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.99) -11.00 chr5-907141-G-A
230 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-907142-C-A
230 G→V missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.91) -10.00 ClinVar:4191302
231 Q→K missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.37) -8.49 chr5-907143-C-A
231 Q→H missense_variant gnomAD — 6.84e-07 — ambiguous (0.53) -4.71 chr5-907145-A-C
232 — frameshift_variant COSMIC — — LoF — — COSV106053174
234 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-907154-A-G
235 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.28) -4.87 chr5-907155-A-G
235 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.28) -4.87 ClinVar:4715054
236 N→D missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.82) -8.06 chr5-907158-A-G
236 N→N synonymous_variant gnomAD — 2.53e-05 — — 0.00 chr5-907160-C-T
236 N→N synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:753468
238 H→H synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-907166-C-T
239 S→S synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr5-907169-C-T
240 L→L synonymous_variant gnomAD — 3.63e-05 — — 0.00 chr5-907172-C-T
240 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:76067
241 F→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -10.44 chr5-907174-T-C
241 F→F synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-907175-T-C
242 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-907178-T-A
242 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-907178-T-C
246 S→S synonymous_variant gnomAD — 2.60e-05 — — 0.00 chr5-907190-G-A
246 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3670858
246 S→L missense_variant COSMIC — — damaging likely_pathogenic (0.96) -11.50 COSV105035994
247 — frameshift_variant gnomAD — 6.85e-07 LoF — — chr5-907191-GAAGT-G
247 E→A missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.92) -9.94 chr5-907192-A-C
249 G→G synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-907993-C-G
251 L→L synonymous_variant COSMIC — — — — 0.00 COSV99386280
252 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908002-A-T
252 — frameshift_variant COSMIC — — LoF — — COSV108034776
253 T→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -5.38 chr5-908003-A-G
253 T→T synonymous_variant COSMIC — — — — 0.00 COSV51320670
254 K→E missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.48) -9.02 chr5-908006-A-G
256 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -9.62 chr5-908012-T-C
257 Q→R missense_variant gnomAD — 4.10e-06 — likely_benign (0.13) -3.91 chr5-908016-A-G
257 Q→H missense_variant COSMIC — — — likely_benign (0.31) -4.64 COSV99386282
259 I→T missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.95) -8.24 ClinVar:3726460
259 I→S missense_variant COSMIC — — damaging likely_pathogenic (0.98) -11.30 COSV105036071
260 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr5-908025-AG-A
261 D→N missense_variant gnomAD — 3.42e-06 — likely_benign (0.11) -5.34 chr5-908027-G-A
261 D→N missense_variant ClinVar Uncertain significance — — likely_benign (0.11) -5.34 ClinVar:1031392
261 — frameshift_variant ClinVar Pathogenic — LoF — — ClinVar:3723852
261 D→Y missense_variant COSMIC — — damaging likely_benign (0.16) -7.91 COSV51322361
262 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -3.88 chr5-908032-G-T
262 L→F missense_variant COSMIC — — — likely_benign (0.16) -3.88 COSV51320258
263 I→L missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -6.09 chr5-908033-A-C
263 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.09) -3.94 chr5-908033-A-G
264 D→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.17) -7.28 chr5-908037-A-T
264 D→D synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr5-908038-T-C
264 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:739542
264 D→N missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -4.37 ClinVar:2608626
265 D→N missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -5.90 chr5-908039-G-A
265 D→Y missense_variant gnomAD — 2.74e-06 damaging ambiguous (0.48) -9.43 chr5-908039-G-T
265 D→V missense_variant gnomAD — 1.37e-06 damaging ambiguous (0.44) -8.93 chr5-908040-A-T
266 K→E missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -5.74 chr5-908042-A-G
266 K→* stop_gained COSMIC — — LoF — — COSV99386564
266 K→E missense_variant COSMIC — — — likely_benign (0.08) -5.74 COSV51319465
267 D→D synonymous_variant gnomAD — 3.12e-04 — — 0.00 chr5-908047-C-T
267 D→D synonymous_variant ClinVar Benign — — — 0.00 ClinVar:2722543
267 D→D synonymous_variant COSMIC — — — — 0.00 COSV51323175
268 A→T missense_variant gnomAD — 1.23e-05 — likely_benign (0.16) -4.88 chr5-908048-G-A
268 A→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -10.85 chr5-908048-G-C
268 A→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -4.88 chr5-908048-G-T
268 A→G missense_variant gnomAD — 1.37e-06 — likely_benign (0.21) -6.16 chr5-908049-C-G
268 A→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.27) -5.16 chr5-908049-C-T
268 A→T missense_variant ClinVar Uncertain significance — — likely_benign (0.16) -4.88 ClinVar:3329023
268 A→S missense_variant ClinVar Uncertain significance — — likely_benign (0.11) -4.88 ClinVar:3810766
268 A→T missense_variant COSMIC — — — likely_benign (0.16) -4.88 COSV51319192
268 A→V missense_variant COSMIC — — — likely_benign (0.27) -5.16 COSV105036063
269 L→L synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr5-908051-C-T
270 V→M missense_variant ClinVar Pathogenic — damaging likely_pathogenic (0.74) -7.90 ClinVar:977645
271 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -6.17 chr5-908059-C-A
271 F→F synonymous_variant gnomAD — 1.23e-05 — — 0.00 chr5-908059-C-T
271 F→F synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3714358
271 F→F synonymous_variant COSMIC — — — — 0.00 COSV99386226
272 V→M missense_variant gnomAD — 5.47e-06 damaging likely_pathogenic (0.70) -8.78 chr5-908060-G-A
272 V→G missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.97) -10.96 chr5-908061-T-G
272 V→V synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2655261
272 V→M missense_variant COSMIC — — damaging likely_pathogenic (0.70) -8.78 COSV51319444
273 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908063-C-T
273 L→L synonymous_variant COSMIC — — — — 0.00 COSV51319175
274 I→V missense_variant gnomAD — 6.84e-06 — likely_benign (0.16) -3.93 chr5-908066-A-G
274 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.16) -3.93 ClinVar:3973871
275 D→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -10.75 chr5-908069-G-A
277 V→V synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-908357-G-A
280 L→V missense_variant COSMIC — — damaging ambiguous (0.47) -7.81 COSV51321852
281 T→T synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-908369-A-G
282 A→S missense_variant gnomAD — 3.43e-06 — likely_benign (0.14) -6.87 chr5-908370-G-T
282 A→A synonymous_variant gnomAD — 9.25e-05 — — 0.00 chr5-908372-C-T
282 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2768297
283 A→T missense_variant gnomAD — 2.19e-05 damaging likely_benign (0.19) -8.06 chr5-908373-G-A
283 A→T missense_variant ClinVar Uncertain significance — damaging likely_benign (0.19) -8.06 ClinVar:3039276
283 A→S missense_variant COSMIC — — damaging likely_benign (0.10) -7.78 COSV99386166
284 R→* stop_gained gnomAD — 6.85e-07 LoF — — chr5-908376-C-T
284 R→* stop_gained COSMIC — — LoF — — COSV108767365
285 N→D missense_variant gnomAD — 1.37e-06 — likely_benign (0.11) -4.47 chr5-908379-A-G
286 A→S missense_variant gnomAD — 6.85e-07 — likely_benign (0.09) -4.00 chr5-908382-G-T
286 A→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.18) -5.59 chr5-908383-C-T
286 A→V missense_variant COSMIC — — — likely_benign (0.18) -5.59 COSV51320246
287 C→Y missense_variant COSMIC — — — likely_benign (0.26) -6.71 COSV99031716
289 A→V missense_variant gnomAD — 2.40e-05 — likely_benign (0.14) -5.05 chr5-908392-C-T
289 A→A synonymous_variant gnomAD — 2.67e-05 — — 0.00 chr5-908393-G-A
289 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:755598
289 A→V missense_variant ClinVar Uncertain significance — — likely_benign (0.14) -5.05 ClinVar:3692190
289 A→S missense_variant COSMIC — — — likely_benign (0.08) -3.23 COSV51322549
289 A→V missense_variant COSMIC — — — likely_benign (0.14) -5.05 COSV51319602
290 G→D missense_variant COSMIC — — damaging likely_pathogenic (0.74) -9.69 COSV108034793
291 T→T synonymous_variant gnomAD — 5.00e-05 — — 0.00 chr5-908399-C-T
291 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2916708
291 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3713522
291 T→S missense_variant COSMIC — — — likely_benign (0.11) -4.73 COSV51321780
291 T→N missense_variant COSMIC — — — likely_benign (0.12) -5.82 COSV51320870
291 T→I missense_variant COSMIC — — — likely_benign (0.26) -6.32 COSV99386553
292 E→E synonymous_variant gnomAD — 2.33e-05 — — 0.00 chr5-908402-G-A
292 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3626502
293 P→P synonymous_variant gnomAD — 6.84e-06 — — 0.00 chr5-908405-A-G
293 P→P synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908405-A-T
295 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-908409-G-GAT
296 A→T missense_variant gnomAD — 6.84e-07 — ambiguous (0.48) -5.61 chr5-908412-G-A
296 A→A synonymous_variant COSMIC — — — — 0.00 COSV51319709
296 A→A synonymous_variant COSMIC — — — — 0.00 COSV99386500
298 R→H missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.98) -10.56 chr5-908419-G-A
298 R→R synonymous_variant gnomAD — 3.15e-05 — — 0.00 chr5-908420-C-T
298 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3049309
298 R→R synonymous_variant COSMIC — — — — 0.00 COSV99386265
299 V→M missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.95) -10.00 chr5-908421-G-A
299 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908423-G-C
299 V→M missense_variant COSMIC — — damaging likely_pathogenic (0.95) -10.00 COSV108767469
300 V→I missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.51) -10.44 chr5-908424-G-A
300 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908426-C-T
302 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908432-T-G
302 A→S missense_variant COSMIC — — — likely_benign (0.20) -6.56 COSV51320728
304 L→F missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.99) -10.69 chr5-908438-G-T
304 L→L synonymous_variant COSMIC — — — — 0.00 COSV51319989
305 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-908441-C-T
306 Q→R missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.58) -9.62 chr5-908443-A-G
306 Q→Q synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-908444-A-G
306 Q→K missense_variant COSMIC — — damaging likely_pathogenic (0.65) -9.37 COSV106352258
307 I→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.20) -7.12 chr5-908445-A-G
308 D→Y missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -11.44 chr5-908448-G-T
308 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-908450-T-C
308 D→Y missense_variant COSMIC — — damaging likely_pathogenic (0.99) -11.44 COSV51319236
309 Q→K missense_variant gnomAD — 4.11e-06 — likely_benign (0.18) -6.52 chr5-908451-C-A
311 K→E missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.90) -10.58 chr5-908457-A-G
312 R→R synonymous_variant gnomAD — 6.88e-07 — — 0.00 chr5-911843-G-A
313 H→Y missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) 0.31 chr5-911844-C-T
313 H→P missense_variant gnomAD — 2.75e-06 damaging likely_pathogenic (0.74) -9.40 chr5-911845-A-C
314 S→C missense_variant COSMIC — — — likely_benign (0.08) -5.57 COSV51319619
314 S→F missense_variant COSMIC — — damaging ambiguous (0.36) -7.64 COSV51321412
315 N→D missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (0.84) -11.62 chr5-911850-A-G
315 N→S missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.32) -8.12 chr5-911851-A-G
315 N→N synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr5-911852-T-C
316 V→I missense_variant gnomAD — 1.37e-06 — likely_benign (0.19) -6.81 chr5-911853-G-A
317 V→V synonymous_variant COSMIC — — — — 0.00 COSV99386603
318 I→T missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.96) -8.93 chr5-911860-T-C
318 I→I synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr5-911861-T-A
320 T→S missense_variant gnomAD — 6.85e-07 damaging likely_benign (0.28) -7.68 chr5-911866-C-G
321 T→P missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.94) -10.69 chr5-911868-A-C
321 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911870-T-A
321 T→T synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-911870-T-C
322 S→S synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-911873-T-C
322 S→C missense_variant COSMIC — — damaging likely_pathogenic (0.91) -10.25 COSV51322390
323 N→N synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-911876-C-T
324 I→V missense_variant gnomAD — 4.79e-06 — likely_benign (0.10) 1.19 chr5-911877-A-G
324 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.10) 1.19 ClinVar:3461762
325 T→T synonymous_variant gnomAD — 1.32e-04 — — 0.00 chr5-911882-C-G
325 T→T synonymous_variant gnomAD — 2.12e-05 — — 0.00 chr5-911882-C-T
325 T→T synonymous_variant ClinVar Benign — — — 0.00 ClinVar:711924
325 T→T synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3030857
326 E→K missense_variant gnomAD — 1.78e-05 damaging likely_benign (0.19) -9.30 chr5-911883-G-A
326 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911885-G-A
326 E→K missense_variant ClinVar Uncertain significance — damaging likely_benign (0.19) -9.30 ClinVar:977643
326 E→K missense_variant COSMIC — — damaging likely_benign (0.19) -9.30 COSV99386516
327 K→R missense_variant gnomAD — 2.74e-06 — likely_benign (0.07) -5.31 chr5-911887-A-G
328 I→I synonymous_variant gnomAD — 1.92e-05 — — 0.00 chr5-911891-C-T
328 I→I synonymous_variant COSMIC — — — — 0.00 COSV51321703
329 D→D synonymous_variant gnomAD — 1.23e-05 — — 0.00 chr5-911894-C-T
330 V→M missense_variant gnomAD — 5.06e-05 — likely_benign (0.08) -4.04 chr5-911895-G-A
330 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911897-G-A
330 V→M missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -4.04 ClinVar:3182934
330 V→M missense_variant COSMIC — — — likely_benign (0.08) -4.04 COSV51320809
331 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911900-C-T
331 A→T missense_variant COSMIC — — damaging likely_pathogenic (0.98) -9.06 COSV108767466
332 F→F synonymous_variant gnomAD — 8.69e-05 — — 0.00 chr5-911903-C-T
332 F→F synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3703407
332 F→F synonymous_variant COSMIC — — — — 0.00 COSV99386259
333 V→M missense_variant gnomAD — 4.11e-06 — likely_benign (0.28) -6.59 chr5-911904-G-A
333 V→L missense_variant COSMIC — — — ambiguous (0.37) -6.72 COSV51319816
334 D→N missense_variant COSMIC — — damaging likely_pathogenic (0.91) -10.50 COSV99386601
336 A→A synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-911915-T-A
336 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3637285
338 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911921-C-T
338 I→M missense_variant COSMIC — — — likely_benign (0.24) -6.90 COSV51319577
340 Q→Q synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911927-G-A
341 Y→* stop_gained gnomAD — 6.84e-07 LoF — — chr5-911930-C-A
341 Y→Y synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-911930-C-T
342 I→V missense_variant gnomAD — 2.74e-06 — likely_benign (0.08) -5.56 chr5-911931-A-G
342 I→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.70) -7.93 chr5-911932-T-C
342 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -5.56 ClinVar:3592838
342 I→N missense_variant COSMIC — — damaging likely_pathogenic (0.99) -11.24 COSV51322883
343 G→W missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.95) -12.75 chr5-911934-G-T
343 G→E missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.93) -9.25 chr5-911935-G-A
344 P→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.29) -5.41 chr5-911937-C-T
345 P→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.88) -8.50 chr5-911941-C-T
345 P→P synonymous_variant gnomAD — 6.84e-06 — — 0.00 chr5-911942-C-G
345 P→P synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911942-C-T
345 P→L missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.88) -8.50 ClinVar:3639227
345 P→S missense_variant COSMIC — — damaging likely_pathogenic (0.99) -7.62 COSV107241823
346 S→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -7.34 chr5-911943-T-G
346 S→S synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr5-911945-T-C
346 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3690445
347 A→T missense_variant gnomAD — 4.79e-06 — likely_benign (0.08) -3.53 chr5-911946-G-A
347 A→V missense_variant gnomAD — 5.47e-06 — likely_benign (0.09) -5.06 chr5-911947-C-T
347 A→A synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-911948-A-G
348 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -4.30 chr5-911949-G-A
349 A→D missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -11.25 chr5-911953-C-A
349 A→A synonymous_variant gnomAD — 8.21e-06 — — 0.00 chr5-911954-C-T
350 I→V missense_variant gnomAD — 5.41e-05 — likely_benign (0.07) -3.82 chr5-911955-A-G
350 I→I synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-911957-C-T
350 I→V missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -3.82 ClinVar:3023145
351 F→F synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr5-911960-C-T
353 I→V missense_variant gnomAD — 6.84e-06 damaging likely_pathogenic (0.58) -6.00 chr5-911964-A-G
353 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-911964-AT-A
353 I→I synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911966-C-A
353 I→V missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.58) -6.00 ClinVar:2636923
353 I→I synonymous_variant COSMIC — — — — 0.00 COSV99386216
354 Y→F missense_variant gnomAD — 2.05e-06 — likely_benign (0.11) -5.05 chr5-911968-A-T
354 Y→Y synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-911969-C-T
354 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-911969-CCT-C
354 Y→D missense_variant COSMIC — — damaging likely_pathogenic (0.98) -10.74 COSV99386463
355 L→L synonymous_variant gnomAD — 8.90e-06 — — 0.00 chr5-911972-C-T
355 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4811053
356 — frameshift_variant gnomAD — 6.85e-07 LoF — — chr5-911974-CTTGTT-C
357 C→Y missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.98) -9.55 chr5-911977-G-A
357 C→F missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.91) -9.43 chr5-911977-G-T
358 L→W missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.90) -10.79 chr5-911980-T-G
358 L→F missense_variant gnomAD — 6.86e-07 — ambiguous (0.46) -7.14 chr5-911981-G-C
359 E→Q missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.15) -8.06 chr5-911982-G-C
361 L→L synonymous_variant gnomAD — 8.26e-06 — — 0.00 chr5-911990-G-A
361 L→L synonymous_variant gnomAD — 6.89e-07 — — 0.00 chr5-911990-G-C
361 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3719412
362 M→T missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.74) -6.34 ClinVar:1805147
363 — frameshift_variant gnomAD — 6.91e-07 LoF — — chr5-911995-AG-A
364 C→R missense_variant gnomAD — 4.11e-06 — likely_benign (0.21) -6.13 chr5-914465-T-C
365 Q→* stop_gained gnomAD — 6.85e-07 LoF — — chr5-914468-C-T
365 Q→Q synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-914470-G-A
366 I→L missense_variant gnomAD — 2.74e-06 — likely_benign (0.28) -6.24 chr5-914471-A-C
366 I→V missense_variant gnomAD — 6.85e-07 — likely_benign (0.11) -4.49 chr5-914471-A-G
366 I→I synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-914473-C-T
366 I→L missense_variant ClinVar Uncertain significance — — likely_benign (0.28) -6.24 ClinVar:4191301
366 I→V missense_variant ClinVar — — — likely_benign (0.11) -4.49 ClinVar:4318979
366 I→V missense_variant COSMIC — — — likely_benign (0.11) -4.49 COSV99386365
366 I→I synonymous_variant COSMIC — — — — 0.00 COSV51320092
366 I→M missense_variant COSMIC — — — likely_benign (0.30) -6.64 COSV51322197
367 I→V missense_variant gnomAD — 6.85e-06 — likely_benign (0.10) -3.18 chr5-914474-A-G
367 I→T missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (0.94) -6.51 chr5-914475-T-C
368 Y→H missense_variant gnomAD — 6.85e-07 — likely_benign (0.26) -5.57 chr5-914477-T-C
368 Y→Y synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-914479-C-T
369 P→S missense_variant gnomAD — 1.51e-05 damaging likely_pathogenic (0.78) -8.25 chr5-914480-C-T
369 P→S missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.78) -8.25 ClinVar:4599376
369 P→L missense_variant COSMIC — — damaging likely_pathogenic (0.85) -9.12 COSV99386534
370 R→C missense_variant gnomAD — 1.37e-05 — likely_benign (0.21) -5.54 chr5-914483-C-T
370 R→H missense_variant gnomAD — 3.42e-06 — likely_benign (0.18) -3.89 chr5-914484-G-A
370 R→R synonymous_variant gnomAD — 7.53e-06 — — 0.00 chr5-914485-C-A
370 R→C missense_variant ClinVar Uncertain significance — — likely_benign (0.21) -5.54 ClinVar:2819996
370 R→C missense_variant COSMIC — — — likely_benign (0.21) -5.54 COSV51319738
370 R→R synonymous_variant COSMIC — — — — 0.00 COSV107241811
372 Q→Q synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914491-G-A
372 Q→* stop_gained COSMIC — — LoF — — COSV51319786
374 L→L synonymous_variant COSMIC — — — — 0.00 COSV51321771
375 T→A missense_variant gnomAD — 2.05e-06 — likely_benign (0.18) -4.54 chr5-914498-A-G
375 T→I missense_variant gnomAD — 6.84e-06 damaging likely_pathogenic (0.78) -6.36 chr5-914499-C-T
375 T→I missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.78) -6.36 ClinVar:3670258
375 T→S missense_variant COSMIC — — — likely_benign (0.09) -3.93 COSV108034788
376 L→L synonymous_variant COSMIC — — — — 0.00 COSV105036077
377 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-914504-C-A
377 R→G missense_variant gnomAD — 6.84e-07 — ambiguous (0.39) -6.71 chr5-914504-C-G
377 R→* stop_gained gnomAD — 2.05e-06 LoF — — chr5-914504-C-T
377 R→Q missense_variant gnomAD — 4.11e-06 — likely_benign (0.14) -5.92 chr5-914505-G-A
377 R→* stop_gained ClinVar Pathogenic — LoF — — ClinVar:431045
377 R→G missense_variant ClinVar Uncertain significance — — ambiguous (0.39) -6.71 ClinVar:2239566
377 R→R synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:4798931
377 R→* stop_gained COSMIC — — LoF — — COSV51320113
378 E→E synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914509-G-A
378 E→D missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.63) -5.52 chr5-914509-G-T
379 L→I missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.50) -7.84 chr5-914510-C-A
379 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914512-A-G
379 L→L synonymous_variant COSMIC — — — — 0.00 COSV51319904
380 E→K missense_variant gnomAD — 1.37e-06 — likely_benign (0.18) -5.95 chr5-914513-G-A
380 E→G missense_variant gnomAD — 4.11e-06 — likely_benign (0.19) -5.89 chr5-914514-A-G
380 E→G missense_variant ClinVar Uncertain significance — — likely_benign (0.19) -5.89 ClinVar:4796589
380 E→Q missense_variant COSMIC — — — likely_benign (0.11) -5.14 COSV99386427
380 E→G missense_variant COSMIC — — — likely_benign (0.19) -5.89 COSV51319944
381 M→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.15) -3.97 chr5-914516-A-G
381 M→T missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.57) -4.97 chr5-914517-T-C
384 F→F synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914527-C-T
385 I→V missense_variant gnomAD — 4.79e-06 — likely_benign (0.07) -2.19 chr5-914528-A-G
385 I→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -3.62 chr5-914529-T-C
385 I→M missense_variant gnomAD — 6.84e-07 — likely_benign (0.08) -3.71 chr5-914530-T-G
385 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-914530-TG-T
386 E→K missense_variant gnomAD — 4.11e-06 — likely_benign (0.20) -6.58 chr5-914531-G-A
386 — inframe_deletion gnomAD — 6.84e-07 — — — chr5-914533-AAAC-A
386 E→K missense_variant COSMIC — — — likely_benign (0.20) -6.58 COSV99386541
386 E→V missense_variant COSMIC — — damaging ambiguous (0.51) -7.77 COSV99386419
387 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-914536-CA-C
388 N→S missense_variant gnomAD — 4.11e-06 — likely_benign (0.07) -2.51 chr5-914538-A-G
388 N→N synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-914539-C-T
388 N→Y missense_variant COSMIC — — damaging likely_benign (0.23) -8.74 COSV99386587
388 N→S missense_variant COSMIC — — — likely_benign (0.07) -2.51 COSV51319402
389 V→M missense_variant gnomAD — 6.16e-06 damaging likely_pathogenic (0.63) -6.25 chr5-914540-G-A
389 V→M missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.63) -6.25 ClinVar:2611192
389 V→M missense_variant COSMIC — — damaging likely_pathogenic (0.63) -6.25 COSV99386224
389 V→L missense_variant COSMIC — — damaging likely_pathogenic (0.73) -6.15 COSV51323116
390 S→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.98) -8.02 chr5-914543-T-C
390 S→* stop_gained gnomAD — 1.37e-06 LoF — — chr5-914544-C-A
390 S→* stop_gained COSMIC — — LoF — — COSV106352241
391 K→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -6.07 chr5-914546-A-G
391 K→R missense_variant gnomAD — 1.37e-06 — likely_benign (0.06) -2.02 chr5-914547-A-G
391 K→K synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-914548-A-G
392 L→L synonymous_variant gnomAD — 4.51e-02 — — 0.00 chr5-914549-T-C
392 L→V missense_variant gnomAD — 2.05e-06 — likely_benign (0.15) -5.05 chr5-914549-T-G
392 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914551-G-A
392 L→L synonymous_variant ClinVar Benign — — — 0.00 ClinVar:1245352
392 L→V missense_variant ClinVar — — — likely_benign (0.15) -5.05 ClinVar:4318980
392 L→L synonymous_variant COSMIC — — — — 0.00 COSV51320774
392 L→F missense_variant COSMIC — — — likely_benign (0.18) -3.94 COSV51320426
393 S→G missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.63) -7.90 chr5-914552-A-G
393 S→S synonymous_variant gnomAD — 2.40e-04 — — 0.00 chr5-914554-C-T
393 S→S synonymous_variant ClinVar Benign — — — 0.00 ClinVar:722937
394 L→I missense_variant gnomAD — 5.48e-06 — likely_benign (0.11) -6.21 chr5-914555-C-A
394 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914557-T-A
394 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-914557-T-C
394 L→L synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr5-914557-T-G
395 L→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -4.94 chr5-914558-C-G
395 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -3.53 chr5-914558-C-T
396 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr5-914563-G-A
397 N→S missense_variant gnomAD — 5.48e-06 — likely_benign (0.05) 1.31 chr5-914565-A-G
397 N→N synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-914566-T-C
397 N→S missense_variant ClinVar Uncertain significance — — likely_benign (0.05) 1.31 ClinVar:3625809
397 N→S missense_variant COSMIC — — — likely_benign (0.05) 1.31 COSV51319250
397 N→N synonymous_variant COSMIC — — — — 0.00 COSV107241819
399 — frameshift_variant gnomAD — 6.85e-07 LoF — — chr5-914570-AT-A
400 S→A missense_variant gnomAD — 1.37e-06 — likely_benign (0.05) -3.06 chr5-914573-T-G
400 S→S synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr5-914575-A-G
402 K→R missense_variant gnomAD — 1.03e-04 — likely_benign (0.08) -3.50 chr5-915906-A-G
402 K→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.66) -6.03 chr5-915907-G-C
402 K→R missense_variant ClinVar Uncertain significance — — likely_benign (0.08) -3.50 ClinVar:2636088
403 S→S synonymous_variant gnomAD — 2.12e-05 — — 0.00 chr5-915910-C-T
403 S→N missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.97) -11.06 ClinVar:3640618
403 S→S synonymous_variant COSMIC — — — — 0.00 COSV51320045
404 E→K missense_variant gnomAD — 9.58e-06 — likely_benign (0.09) -6.19 chr5-915911-G-A
404 E→E synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr5-915913-G-A
404 E→E synonymous_variant COSMIC — — — — 0.00 COSV51320487
405 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-915916-C-T
405 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-915916-CCT-C
405 G→C missense_variant COSMIC — — damaging likely_pathogenic (0.70) -8.81 COSV51319186
405 G→S missense_variant COSMIC — — — ambiguous (0.42) -6.12 COSV51319412
407 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-915920-A-AG
407 S→G missense_variant gnomAD — 1.08e-04 damaging likely_pathogenic (0.69) -8.06 chr5-915920-A-G
407 S→S synonymous_variant gnomAD — 8.21e-06 — — 0.00 chr5-915922-C-T
407 S→G missense_variant ClinVar Likely benign — damaging likely_pathogenic (0.69) -8.06 ClinVar:2920393
407 S→N missense_variant COSMIC — — damaging likely_pathogenic (0.89) -7.62 COSV107241812
407 S→S synonymous_variant COSMIC — — — — 0.00 COSV51319479
408 G→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.90) -9.81 chr5-915923-G-A
408 G→S missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.90) -9.81 ClinVar:4809644
408 G→C missense_variant COSMIC — — damaging likely_pathogenic (0.98) -10.75 COSV51320848
408 G→S missense_variant COSMIC — — damaging likely_pathogenic (0.90) -9.81 COSV104552360
408 — mnv COSMIC — — — — — COSV104552356
408 G→G synonymous_variant COSMIC — — — — 0.00 COSV51319366
409 R→R synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-915926-C-A
409 R→W missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.98) -10.00 chr5-915926-C-T
409 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.98) -10.00 COSV51321647
410 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -2.38 chr5-915929-G-A
410 V→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.29) -0.94 chr5-915930-T-C
411 L→V missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.59) -7.40 chr5-915932-C-G
411 L→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (1.00) -11.62 chr5-915933-T-C
411 L→L synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-915934-G-A
412 R→T missense_variant COSMIC — — damaging likely_pathogenic (1.00) -10.93 COSV51322501
412 R→K missense_variant COSMIC — — damaging likely_pathogenic (0.85) -6.40 COSV51320696
414 L→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -5.64 chr5-915941-C-G
414 L→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -11.67 chr5-915942-T-C
414 L→L synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr5-915943-C-T
415 P→P synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-915946-C-T
415 P→S missense_variant COSMIC — — damaging likely_pathogenic (0.96) -7.41 COSV99386261
415 P→P synonymous_variant COSMIC — — — — 0.00 COSV51319357
416 F→I missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.84) -8.93 chr5-915947-T-A
416 F→L missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.97) -6.62 chr5-915947-T-C
416 F→F synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-915949-T-C
416 F→I missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.84) -8.93 ClinVar:4798909
417 L→V missense_variant gnomAD — 1.37e-06 — likely_benign (0.21) -5.69 chr5-915950-C-G
417 L→L synonymous_variant gnomAD — 4.72e-05 — — 0.00 chr5-915952-G-T
418 A→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.24) -5.87 chr5-915953-G-T
419 H→H synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-915958-T-C
420 A→V missense_variant gnomAD — 2.05e-06 damaging likely_pathogenic (0.79) -7.59 chr5-915960-C-T
420 A→A synonymous_variant gnomAD — 1.50e-05 — — 0.00 chr5-915961-G-A
420 A→V missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.79) -7.59 ClinVar:3668033
420 A→A synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3693878
420 A→V missense_variant COSMIC — — damaging likely_pathogenic (0.79) -7.59 COSV99386158
421 L→L synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-915964-G-A
421 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-915964-G-T
422 Y→C missense_variant gnomAD — 6.84e-07 — likely_benign (0.14) -5.99 chr5-915966-A-G
423 — inframe_insertion gnomAD — 6.84e-07 — — — chr5-915968-G-GTCCAGGTGAGTC
423 V→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.32) -5.59 chr5-915969-T-C
424 Q→R missense_variant gnomAD — 5.47e-06 — likely_benign (0.10) -3.56 chr5-915972-A-G
424 Q→H missense_variant gnomAD — 4.58e-05 — ambiguous (0.36) -4.75 chr5-915973-G-C
424 Q→R missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -3.56 ClinVar:2498967
424 Q→Q synonymous_variant ClinVar Uncertain significance — — — 0.00 ClinVar:2705875
424 Q→H missense_variant ClinVar Uncertain significance — — ambiguous (0.36) -4.75 ClinVar:4541030
425 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917010-C-T
427 T→T synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-917016-C-A
427 T→T synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr5-917016-C-T
428 V→I missense_variant gnomAD — 2.12e-05 — likely_benign (0.10) -3.69 chr5-917017-G-A
428 V→I missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -3.69 ClinVar:3652516
428 V→I missense_variant COSMIC — — — likely_benign (0.10) -3.69 COSV51319656
429 T→P missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -7.09 chr5-917020-A-C
429 T→I missense_variant COSMIC — — damaging likely_pathogenic (0.73) -7.91 COSV106352270
429 T→T synonymous_variant COSMIC — — — — 0.00 COSV105846269
430 I→T missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) -3.85 chr5-917024-T-C
430 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-917024-TA-T
430 I→M missense_variant gnomAD — 3.76e-05 — likely_benign (0.07) -2.38 chr5-917025-A-G
430 I→T missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -3.85 ClinVar:2487114
430 I→M missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -2.38 ClinVar:3973873
431 E→D missense_variant gnomAD — 3.42e-06 — likely_benign (0.14) -2.74 chr5-917028-G-T
431 E→Q missense_variant COSMIC — — — likely_benign (0.13) -6.09 COSV51319747
432 G→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.15) -4.77 chr5-917029-G-A
432 G→E missense_variant gnomAD — 7.25e-05 — likely_benign (0.11) -5.46 chr5-917030-G-A
432 G→E missense_variant ClinVar Conflicting classifications of pathogenicity — — likely_benign (0.11) -5.46 ClinVar:2327857
433 F→Y missense_variant gnomAD — 6.84e-07 — ambiguous (0.39) -5.75 chr5-917033-T-A
434 L→F missense_variant gnomAD — 6.84e-07 — ambiguous (0.50) -7.03 chr5-917035-C-T
434 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917037-C-G
434 L→L synonymous_variant gnomAD — 2.46e-05 — — 0.00 chr5-917037-C-T
434 L→L synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3691435
434 L→P missense_variant COSMIC — — damaging likely_pathogenic (0.99) -8.81 COSV109408834
435 Q→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -5.13 chr5-917038-C-G
435 Q→R missense_variant gnomAD — 4.10e-06 — likely_benign (0.07) -4.70 chr5-917039-A-G
435 Q→R missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -4.70 ClinVar:3973875
435 Q→K missense_variant COSMIC — — — likely_benign (0.07) -5.07 COSV99386299
436 A→A synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-917043-C-A
436 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917043-C-T
437 L→L synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-917046-G-A
438 S→T missense_variant ClinVar Uncertain significance — — likely_benign (0.10) -5.30 ClinVar:3810768
439 L→L synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917052-G-A
440 A→A synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr5-917055-A-G
440 A→T missense_variant COSMIC — — — likely_benign (0.13) -5.17 COSV99386304
441 V→V synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr5-917058-G-A
442 D→N missense_variant gnomAD — 6.16e-06 — likely_benign (0.09) -4.65 chr5-917059-G-A
442 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr5-917061-C-T
442 D→D synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:3054360
443 K→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -6.43 chr5-917062-A-G
444 Q→R missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.47) -9.56 chr5-917066-A-G
446 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:737968
447 E→E synonymous_variant gnomAD — 7.52e-06 — — 0.00 chr5-917076-G-A
447 E→D missense_variant gnomAD — 2.05e-06 — likely_benign (0.12) -1.69 chr5-917076-G-C
447 E→E synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2898842
448 R→G missense_variant gnomAD — 1.37e-06 — likely_benign (0.18) -6.31 chr5-917077-A-G
448 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917079-A-G
448 R→K missense_variant ClinVar Uncertain significance — — likely_benign (0.09) -3.24 ClinVar:4726237
448 — frameshift_variant COSMIC — — LoF — — COSV108034796
449 K→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.06) -2.11 chr5-917080-A-G
449 K→R missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -2.38 chr5-917081-A-G
450 — frameshift_variant gnomAD — 6.84e-07 LoF — — chr5-917083-AAG-A
450 K→N missense_variant gnomAD — 1.37e-06 — likely_benign (0.11) -1.08 chr5-917085-G-T
451 L→F missense_variant gnomAD — 6.84e-07 — likely_benign (0.16) -4.84 chr5-917086-C-T
451 L→L synonymous_variant COSMIC — — — — 0.00 COSV99386245
452 A→T missense_variant gnomAD — 1.37e-06 — likely_benign (0.07) 0.39 chr5-917089-G-A
452 A→V missense_variant gnomAD — 2.26e-05 — likely_benign (0.10) -2.52 chr5-917090-C-T
452 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr5-917091-A-C
453 A→T missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -0.47 chr5-917092-G-A
453 A→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -1.96 chr5-917093-C-G
454 Y→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.05) -0.39 chr5-917096-A-C
455 I→V missense_variant gnomAD — 8.21e-05 — likely_benign (0.06) 1.57 chr5-917098-A-G
455 I→I synonymous_variant gnomAD — 7.53e-06 — — 0.00 chr5-917100-C-T
455 I→V missense_variant ClinVar Likely benign — — likely_benign (0.06) 1.57 ClinVar:735470
455 I→L missense_variant ClinVar Uncertain significance — — likely_benign (0.07) -0.73 ClinVar:2283466
455 I→V missense_variant COSMIC — — — likely_benign (0.06) 1.57 COSV51319433
455 I→N missense_variant COSMIC — — — likely_benign (0.08) -3.31 COSV51319342

948 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