SwissIsoform v2

SRSF2 · ENST00000585202.5

EXTENDED 256 aa (canonical 221 aa) · UniProt Q01130 · CDLMPS

chr17:76737265:-:GTG:ENST00000585202.5

AI summary A folded but undocked 35-aa N-terminal extension adds a disordered, arginine/glycine-rich tail ahead of the RRM, with no domain or localization change.
How it diverges

The extension folds locally into a confident short strand (pLDDT ~0.80) but shows no resolved contact or orientation relative to the shared RRM body (PAE ~28.6 Å), so it is a loosely-appended segment rather than an integrated structural addition; the large shared-region RMSD is not trustworthy given low pTM (~0.40-0.44) for both models and should not be read as core refolding. SAE features shift modestly at the shared-feature magnitude threshold, with the top gained feature and several unique-region features tagged as prion-like/RS-arginine-rich low-complexity IDR signatures, consistent with the added sequence's composition (Pro/Arg/Gly-rich) rather than a new folded module. No InterPro domain is gained or lost, and DeepLoc/SignalP/TargetP calls are unchanged (Nucleus, no signal/transit peptide, both matching known nuclear localization).

Why it matters

SRSF2's known function centers on its RRM-mediated exonic splicing enhancer recognition and its RS/low-complexity regions that drive nuclear speckle association and spliceosome assembly; an N-terminal extension enriched in disordered, arginine/glycine-rich low-complexity character is broadly consistent with (rather than disruptive to) that established RS-domain-like biology, but since no domain is gained, localization is unchanged, and the extension is not shown to dock onto the RRM, there is no clear evidence this addition alters splice-site selection, P-TEFb recruitment, or the Pro95-linked activities documented for SRSF2. The interaction is at most a compositional embellishment sitting ahead of an otherwise intact canonical protein.

Structured N-terminal extension
LLM confidence low

P1's high extension pLDDT is undercut by high diff-vs-body PAE and low global pTM, so the extension's relationship to the folded RRM core is unresolved; the SAE magnitude signal only marginally clears threshold and feature labels are provisional.

Folding

Canonical (221 aa)
Download CIF
Isoform (256 aa)
Download CIF
Coloured by ESMFold2 pLDDT confidence (blue = high, orange/red = low). Differential region — residues 1–35 (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 (1–35).

Evidence — click any tile for the differential-region detail

C Conservation Interesting
LLM reasoning
The N-terminal extension added by this isoform shows real but reduced conservation relative to the canonical protein, consistent with a genuine, moderately constrained coding addition rather than noise. Primate amino-acid identity across the unique region is 83.6% (versus 96.3% for the canonical region in the same species set), and mammalian identity is 62.1% (versus 97.5% canonical) — both clearly above their respective pass thresholds, indicating the added segment is under detectable purifying selection even though it is less deeply conserved than the ancestral ORF. Absolute phyloP over the unique region (1.27) falls short of the strong-constraint threshold (~2.0) and is well below the shared region's phyloP (4.30), so nucleotide-level constraint is only modest. Taken together, the amino-acid-level signals in both primates and mammals argue this extension is a real, selected coding sequence, even though the strict phyloP threshold isn't met and the fraction-intact figures (confounded by the short span) aren't given evidentiary weight.
Unique region 83.6% similar across primates
Unique region 62.1% similar across mammals
Unique region PhyloP: 1.27 — purifying selection
D Detection Interesting
LLM reasoning
This N-terminal extension is a genuine, actively-used alternative start site rather than a translational artifact: it is detected across 4 of 6 profiled cell lines, and in HeLa its initiation efficiency (0.804) is roughly 10x higher than the canonical start's efficiency in the same cell line (0.079), indicating the extended TIS is the dominant start there. Direct peptide evidence supports translation of the unique region itself — one isoform-unique peptide spanning the added sequence (AEEAGASSRGSGPPLR) was PepQuery2-validated (hyperscore 20.6, p=0.0007), out of 9 candidate unique peptides tested. Together, reproducible multi-line detection, strong start-site usage relative to the canonical TIS, and orthogonal mass-spec confirmation of the novel N-terminal peptide make a solid case that this extension is a real, expressed protein isoform and not noise.
detected in 4/6 cell lines
alt used 10× vs canonical
1/9 isoform-unique peptides validated
L Localization Not interesting
LLM reasoning
The 36-aa N-terminal extension does not alter predicted subcellular targeting: DeepLoc calls both isoform and canonical protein Nucleus with near-identical top probabilities (0.848 vs 0.845), retaining the same nuclear localization signal and soluble (non-membrane) classification. Sorting-signal predictions are likewise unchanged — both isoform and canonical score OTHER for SignalP (no secretory signal) and noTP for TargetP (no mitochondrial/chloroplast transit peptide), with probability deltas essentially zero. No evidence here supports a functional consequence of this extension on localization or targeting.
iso: Nucleus | canon: Nucleus
iso: noTP | canon: noTP
M Mutation Landscape Not interesting
LLM reasoning
The only readable signal for this extension is disease-variant density, and it argues against any functional signal in the added N-terminal segment: of 15 disease-annotated variants on this isoform, none fall in the unique region (positions cluster entirely at isoform residues 65-243, all within the shared canonical core), and both ClinVar pathogenic calls (P95L, P95R, AlphaMissense 0.96-0.98) sit at isoform position 129 — canonical residue 94, far downstream of the extension. Direct query of the unique region for any clinical annotation returned zero matches. The unique-region rows that do exist are all gnomAD intronic/pre-start-codon variants (isoform positions 0-5), confirming the added sequence was never-coding, so the germline depletion ratio (2.05) and ESM-C constraint enrichment (234x, with 0 constrained positions) are uninterpretable by construction per the extension rule and cannot be read as protein constraint. With disease density showing a clean, confirmed absence of clinical variants in the added region and no informative constraint signal to weigh against it, there is no basis to call this differential region functionally consequential.
gnomAD variants 2.05× more in unique region — tolerant
Disease variants 17.58× less in unique region — depleted
P Predicted Structure Not interesting
LLM reasoning
The 35-residue N-terminal extension does contain a modestly confident 13-residue strand (pLDDT 0.805), but it is not integrated with the rest of the fold: PAE between the extension and the shared body averages 28.6 Å (near the 32 Å ceiling), meaning its orientation relative to the canonical core is entirely unresolved, and its contacts are confined to residues 1, 15-16 within the extension itself — no contacts reach into the canonical body. Global pTM is low for both isoform (0.40) and canonical (0.44) structures, so the large shared-region RMSD (19.8 Å) is an artifact of two poorly-determined models rather than evidence of core reorganization, exactly the confidence-gate scenario to discount. Taken together, a locally-folded but undocked extension riding on an overall low-confidence prediction does not support a functionally meaningful structural signal.
pLDDT Differential Region: 0.803
Shared-Region RMSD: 19.81 Å
1 secondary structure identified in unique region
S Structural Characteristics Neutral
LLM reasoning
The strongest signal here is the sparse-autoencoder magnitude check just clearing threshold (top shared-feature activation shift 10.14 vs 10.0 cutoff), a marginal pass that by itself doesn't establish a strong functional distinction; the large gained/lost feature counts (105 vs 17) are explicitly context only given the length difference between isoform and canonical. Domain overlap analysis found no real InterPro domains gained or lost in the added N-terminal region (only disorder-predictor hits, which don't count). Whole-protein biophysical shift did not fire: gravy, fraction-charged, and disorder deltas were all small (0.075, -0.016, 0.012) and none crossed the threshold, so no clear hydropathy/charge/disorder shift for the extended protein overall. Taken together, one borderline-positive magnitude signal against two negative/absent structural-domain and biophysical calls does not add up to a confident read on structural consequence of this extension.
No diverging domains
more hydrophobic (+0.55) · less charged (-0.12) · more disordered (+0.09)
122 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→V synonymous_variant gnomAD — 1.56e-06 — N/A — chr17-76737263-C-A
0 V→A missense_variant gnomAD — 1.58e-06 — N/A — chr17-76737264-A-G
0 V→L missense_variant gnomAD — 1.51e-05 — N/A — chr17-76737265-C-G
1 S→S synonymous_variant gnomAD — 1.57e-06 — N/A 0.00 chr17-76737260-G-A
1 S→F missense_variant gnomAD — 5.48e-06 — N/A -1.31 chr17-76737261-G-A
1 S→Y missense_variant gnomAD — 7.83e-07 — N/A -2.44 chr17-76737261-G-T
1 S→A missense_variant gnomAD — 3.92e-06 — N/A 0.91 chr17-76737262-A-C
2 P→P synonymous_variant gnomAD — 7.81e-07 — N/A 0.00 chr17-76737257-T-C
2 P→P synonymous_variant gnomAD — 7.81e-07 — N/A 0.00 chr17-76737257-T-G
2 P→L missense_variant gnomAD — 4.45e-05 — N/A -0.38 chr17-76737258-G-A
2 P→S missense_variant gnomAD — 7.81e-07 — N/A -0.14 chr17-76737259-G-A
3 R→R synonymous_variant gnomAD — 3.89e-06 — N/A 0.00 chr17-76737254-G-A
3 R→R synonymous_variant gnomAD — 1.09e-05 — N/A 0.00 chr17-76737254-G-C
3 R→L missense_variant gnomAD — 7.77e-07 — N/A -1.36 chr17-76737255-C-A
3 R→P missense_variant gnomAD — 1.17e-05 — N/A -0.39 chr17-76737255-C-G
3 R→H missense_variant gnomAD — 7.77e-07 — N/A -2.73 chr17-76737255-C-T
3 R→C missense_variant gnomAD — 7.79e-07 — N/A -2.23 chr17-76737256-G-A
4 G→G synonymous_variant gnomAD — 7.73e-07 — N/A 0.00 chr17-76737251-T-A
4 G→G synonymous_variant gnomAD — 9.27e-06 — N/A 0.00 chr17-76737251-T-C
4 G→G synonymous_variant gnomAD — 1.55e-06 — N/A 0.00 chr17-76737251-T-G
4 G→V missense_variant gnomAD — 5.42e-06 — N/A -1.62 chr17-76737252-C-A
4 G→E missense_variant gnomAD — 3.10e-06 — N/A -1.52 chr17-76737252-C-T
4 G→* stop_gained gnomAD — 7.76e-07 LoF — — chr17-76737253-C-A
4 G→R missense_variant gnomAD — 6.36e-05 — N/A 0.59 chr17-76737253-C-T
5 R→R synonymous_variant gnomAD — 3.67e-04 — N/A 0.00 chr17-76737248-C-T
5 R→K missense_variant gnomAD — 3.78e-04 — N/A -2.13 chr17-76737249-C-T
6 Q→Q synonymous_variant gnomAD — 1.61e-05 — N/A 0.00 chr17-76737245-T-C
6 Q→R missense_variant gnomAD — 5.38e-06 — N/A 2.29 chr17-76737246-T-C
6 Q→* stop_gained gnomAD — 9.24e-06 LoF — — chr17-76737247-G-A
6 Q→K missense_variant gnomAD — 7.70e-07 — N/A -0.50 chr17-76737247-G-T
6 — frameshift_variant gnomAD — 1.54e-06 LoF — — chr17-76737247-GC-G
7 L→L synonymous_variant gnomAD — 6.15e-06 — N/A 0.00 chr17-76737242-C-T
7 L→Q missense_variant gnomAD — 3.07e-06 — N/A -0.31 chr17-76737243-A-T
7 L→L synonymous_variant gnomAD — 7.69e-07 — N/A 0.00 chr17-76737244-G-A
7 L→M missense_variant gnomAD — 3.08e-06 — N/A -2.98 chr17-76737244-G-T
8 P→P synonymous_variant gnomAD — 7.66e-07 — N/A 0.00 chr17-76737239-A-C
8 P→P synonymous_variant gnomAD — 7.66e-07 — N/A 0.00 chr17-76737239-A-G
8 P→L missense_variant gnomAD — 1.53e-06 — N/A -1.03 chr17-76737240-G-A
8 P→H missense_variant gnomAD — 7.67e-07 — N/A -3.06 chr17-76737240-G-T
8 P→S missense_variant gnomAD — 7.92e-04 — N/A -0.64 chr17-76737241-G-A
9 E→E synonymous_variant gnomAD — 1.53e-06 — N/A 0.00 chr17-76737236-C-T
9 E→* stop_gained gnomAD — 1.53e-06 LoF — — chr17-76737238-C-A
10 — frameshift_variant gnomAD — 1.53e-06 LoF — — chr17-76737233-CCT-C
10 R→K missense_variant gnomAD — 1.45e-05 — N/A -2.13 chr17-76737234-C-T
10 R→W missense_variant gnomAD — 7.65e-07 — N/A -2.63 chr17-76737235-T-A
11 R→R synonymous_variant gnomAD — 7.62e-07 — N/A 0.00 chr17-76737230-G-A
11 R→L missense_variant gnomAD — 8.39e-06 — N/A -1.19 chr17-76737231-C-A
11 R→H missense_variant gnomAD — 7.62e-07 — N/A -3.33 chr17-76737231-C-T
11 R→C missense_variant gnomAD — 7.64e-07 — N/A -2.27 chr17-76737232-G-A
11 R→S missense_variant gnomAD — 3.82e-06 — N/A -0.86 chr17-76737232-G-T
12 G→G synonymous_variant gnomAD — 1.98e-05 — N/A 0.00 chr17-76737227-G-A
12 G→G synonymous_variant gnomAD — 7.61e-07 — N/A 0.00 chr17-76737227-G-C
12 G→G synonymous_variant gnomAD — 7.61e-06 — N/A 0.00 chr17-76737227-G-T
12 G→D missense_variant gnomAD — 1.21e-02 — N/A -1.77 chr17-76737228-C-T
12 G→S missense_variant gnomAD — 1.52e-06 — N/A -0.63 chr17-76737229-C-T
13 V→V synonymous_variant gnomAD — 7.60e-07 — N/A 0.00 chr17-76737224-G-A
13 V→L missense_variant gnomAD — 7.61e-07 — N/A 0.72 chr17-76737226-C-G
13 V→I missense_variant gnomAD — 8.37e-06 — N/A -1.80 chr17-76737226-C-T
15 P→L missense_variant gnomAD — 1.52e-06 — N/A -0.33 chr17-76737219-G-A
15 P→S missense_variant gnomAD — 7.59e-07 — N/A 0.00 chr17-76737220-G-A
16 P→P synonymous_variant gnomAD — 7.54e-07 — N/A 0.00 chr17-76737215-G-A
16 — frameshift_variant gnomAD — 7.54e-07 LoF — — chr17-76737216-GGCGGTGCGAC-G
16 P→S missense_variant gnomAD — 5.31e-06 — N/A -0.47 chr17-76737217-G-A
17 R→R synonymous_variant gnomAD — 3.01e-06 — N/A 0.00 chr17-76737212-T-C
17 R→I missense_variant gnomAD — 7.53e-07 — N/A -3.33 chr17-76737213-C-A
17 — frameshift_variant gnomAD — 7.53e-06 LoF — — chr17-76737213-CTG-C
18 A→A synonymous_variant gnomAD — 1.50e-06 — N/A 0.00 chr17-76737209-A-G
18 A→V missense_variant gnomAD — 1.73e-05 — N/A -1.76 chr17-76737210-G-A
18 A→D missense_variant gnomAD — 7.52e-07 — N/A -2.40 chr17-76737210-G-T
18 A→P missense_variant gnomAD — 1.73e-05 — N/A -0.18 chr17-76737211-C-G
19 E→E synonymous_variant gnomAD — 9.47e-05 — N/A 0.00 chr17-76737206-C-T
19 E→G missense_variant gnomAD — 1.33e-04 — N/A 1.05 chr17-76737207-T-C
19 E→K missense_variant gnomAD — 7.51e-07 — N/A -1.88 chr17-76737208-C-T
20 E→Q missense_variant gnomAD — 7.40e-07 — N/A -1.05 chr17-76737205-C-G
20 E→K missense_variant gnomAD — 2.22e-06 — N/A -1.73 chr17-76737205-C-T
21 A→V missense_variant gnomAD — 2.22e-06 — N/A -1.63 chr17-76737201-G-A
21 A→P missense_variant gnomAD — 7.39e-07 — N/A -0.27 chr17-76737202-C-G
22 G→G synonymous_variant gnomAD — 7.37e-07 — N/A 0.00 chr17-76737197-G-C
22 G→A missense_variant gnomAD — 1.92e-04 — N/A 1.58 chr17-76737198-C-G
22 G→D missense_variant gnomAD — 3.69e-06 — N/A -2.41 chr17-76737198-C-T
22 G→S missense_variant gnomAD — 1.77e-05 — N/A -0.52 chr17-76737199-C-T
22 G→A missense_variant COSMIC — — — N/A 1.58 COSV57973501
23 A→A synonymous_variant gnomAD — 7.35e-07 — N/A 0.00 chr17-76737194-G-T
23 A→T missense_variant gnomAD — 1.47e-06 — N/A -1.58 chr17-76737196-C-T
24 S→R missense_variant gnomAD — 2.20e-06 — N/A 0.88 chr17-76737191-A-C
24 S→N missense_variant gnomAD — 1.47e-06 — N/A -3.05 chr17-76737192-C-T
24 S→G missense_variant gnomAD — 1.32e-05 — N/A 1.27 chr17-76737193-T-C
24 — inframe_deletion gnomAD — 7.35e-07 — N/A — chr17-76737193-TGGCGCC-T
25 S→S synonymous_variant gnomAD — 4.39e-06 — N/A 0.00 chr17-76737188-C-T
25 S→W missense_variant gnomAD — 7.32e-07 — N/A -1.55 chr17-76737189-G-C
25 — frameshift_variant gnomAD — 7.32e-07 LoF — — chr17-76737189-GA-G
26 R→R synonymous_variant gnomAD — 2.19e-06 — N/A 0.00 chr17-76737185-C-T
26 R→R synonymous_variant gnomAD — 7.32e-07 — N/A 0.00 chr17-76737187-G-T
27 G→G synonymous_variant gnomAD — 1.45e-06 — N/A 0.00 chr17-76737182-G-A
27 G→V missense_variant gnomAD — 7.28e-07 — N/A -1.31 chr17-76737183-C-A
27 G→D missense_variant gnomAD — 9.75e-05 — N/A -2.00 chr17-76737183-C-T
27 G→S missense_variant gnomAD — 1.46e-06 — N/A -0.25 chr17-76737184-C-T
28 S→S synonymous_variant gnomAD — 2.69e-05 — N/A 0.00 chr17-76737179-G-A
28 S→F missense_variant gnomAD — 7.26e-07 — N/A -2.41 chr17-76737180-G-A
28 S→C missense_variant gnomAD — 5.08e-06 — N/A -1.64 chr17-76737180-G-C
28 S→Y missense_variant gnomAD — 7.26e-07 — N/A -4.00 chr17-76737180-G-T
28 S→P missense_variant gnomAD — 7.27e-07 — N/A 0.84 chr17-76737181-A-G
29 G→G synonymous_variant gnomAD — 2.90e-06 — N/A 0.00 chr17-76737176-C-T
29 G→R missense_variant gnomAD — 1.45e-06 — N/A 0.77 chr17-76737178-C-G
30 P→L missense_variant gnomAD — 7.21e-07 — N/A -0.77 chr17-76737174-G-A
30 P→T missense_variant gnomAD — 2.89e-06 — N/A -1.69 chr17-76737175-G-T
31 P→P synonymous_variant gnomAD — 7.16e-07 — N/A 0.00 chr17-76737170-T-A
31 P→P synonymous_variant gnomAD — 1.43e-06 — N/A 0.00 chr17-76737170-T-C
31 P→P synonymous_variant gnomAD — 2.15e-06 — N/A 0.00 chr17-76737170-T-G
31 P→L missense_variant gnomAD — 7.17e-07 — N/A -0.84 chr17-76737171-G-A
31 P→S missense_variant gnomAD — 1.44e-06 — N/A -0.41 chr17-76737172-G-A
31 P→A missense_variant gnomAD — 3.60e-06 — N/A 0.57 chr17-76737172-G-C
32 L→L synonymous_variant gnomAD — 8.55e-06 — N/A 0.00 chr17-76737167-G-A
32 L→L synonymous_variant gnomAD — 1.43e-06 — N/A 0.00 chr17-76737167-G-T
32 L→F missense_variant gnomAD — 2.15e-06 — N/A -2.08 chr17-76737169-G-A
33 R→R synonymous_variant gnomAD — 2.84e-06 — N/A 0.00 chr17-76737164-T-C
33 — frameshift_variant gnomAD — 7.11e-07 LoF — — chr17-76737165-C-CT
34 A→G missense_variant gnomAD — 7.10e-07 — N/A -4.13 chr17-76737162-G-C
34 A→D missense_variant gnomAD — 1.38e-04 — N/A -4.54 chr17-76737162-G-T
34 — frameshift_variant gnomAD — 7.10e-07 LoF — — chr17-76737162-GC-G
34 — frameshift_variant gnomAD — 4.97e-06 LoF — — chr17-76737162-GCT-G
34 A→D missense_variant COSMIC — — — N/A -4.54 COSV104631669

122 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
35 M→I missense_variant COSMIC — — damaging — -11.31 COSV57975577
35 M→I missense_variant COSMIC — — damaging — -11.31 COSV100333793
35 M→L missense_variant COSMIC — — damaging — -10.31 COSV57975466
35 M→V missense_variant COSMIC — — damaging — -10.62 COSV100333985
36 S→S synonymous_variant gnomAD — 6.32e-06 — — 0.00 chr17-76737155-G-A
37 Y→Y synonymous_variant gnomAD — 4.20e-06 — — 0.00 chr17-76737152-G-A
37 Y→H missense_variant gnomAD — 1.40e-06 damaging likely_pathogenic (0.93) -10.06 chr17-76737154-A-G
37 Y→Y synonymous_variant COSMIC — — — — 0.00 COSV57970739
38 G→G synonymous_variant gnomAD — 6.98e-07 — — 0.00 chr17-76737149-G-T
38 G→D missense_variant COSMIC — — damaging likely_pathogenic (0.95) -10.69 COSV57973190
38 G→G synonymous_variant COSMIC — — — — 0.00 COSV57972632
38 — frameshift_variant COSMIC — — LoF — — COSV108864517
39 R→R synonymous_variant gnomAD — 9.76e-06 — — 0.00 chr17-76737146-G-A
39 R→R synonymous_variant gnomAD — 9.06e-06 — — 0.00 chr17-76737146-G-T
40 P→P synonymous_variant gnomAD — 1.25e-05 — — 0.00 chr17-76737143-G-A
40 P→L missense_variant gnomAD — 6.96e-07 damaging likely_pathogenic (0.82) -9.31 chr17-76737144-G-A
40 P→A missense_variant gnomAD — 6.97e-07 damaging likely_benign (0.30) -7.94 chr17-76737145-G-C
41 — frameshift_variant COSMIC — — LoF — — COSV100333744
42 P→P synonymous_variant gnomAD — 1.39e-06 — — 0.00 chr17-76737137-G-A
42 P→P synonymous_variant gnomAD — 2.08e-06 — — 0.00 chr17-76737137-G-C
42 P→S missense_variant COSMIC — — damaging likely_pathogenic (0.94) -11.62 COSV105204827
43 D→D synonymous_variant gnomAD — 6.93e-07 — — 0.00 chr17-76737134-A-G
43 D→N missense_variant COSMIC — — damaging ambiguous (0.44) -10.25 COSV57973957
44 V→V synonymous_variant gnomAD — 1.94e-05 — — 0.00 chr17-76737131-C-T
45 E→E synonymous_variant gnomAD — 8.99e-06 — — 0.00 chr17-76737128-C-T
46 G→D missense_variant COSMIC — — damaging likely_pathogenic (0.78) -10.06 COSV57976564
47 M→I missense_variant COSMIC — — damaging likely_pathogenic (1.00) -13.25 COSV57976338
48 T→T synonymous_variant gnomAD — 5.51e-06 — — 0.00 chr17-76737119-G-A
48 T→T synonymous_variant gnomAD — 2.27e-05 — — 0.00 chr17-76737119-G-C
49 S→S synonymous_variant gnomAD — 1.07e-04 — — 0.00 chr17-76737116-G-A
49 S→F missense_variant COSMIC — — damaging likely_pathogenic (1.00) -16.75 COSV57972515
50 L→L synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr17-76737113-G-A
50 L→L synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr17-76737113-G-C
50 L→F missense_variant COSMIC — — damaging likely_pathogenic (1.00) -12.44 COSV105204948
51 K→K synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr17-76737110-C-T
52 V→V synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr17-76737107-C-T
53 D→D synonymous_variant gnomAD — 6.86e-07 — — 0.00 chr17-76737104-G-A
53 D→G missense_variant COSMIC — — damaging likely_pathogenic (1.00) -11.87 COSV105907575
53 D→Y missense_variant COSMIC — — damaging likely_pathogenic (1.00) -13.19 COSV105907634
54 N→N synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr17-76737101-G-A
54 N→N synonymous_variant COSMIC — — — — 0.00 COSV57976464
55 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737098-C-T
55 L→R missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (1.00) -14.37 chr17-76737099-A-C
55 L→V missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.87) -10.81 chr17-76737100-G-C
56 T→T synonymous_variant COSMIC — — — — 0.00 COSV100333627
56 T→A missense_variant COSMIC — — damaging likely_pathogenic (0.95) -12.87 COSV57971113
57 Y→H missense_variant COSMIC — — damaging likely_pathogenic (1.00) -12.12 COSV107405572
57 Y→N missense_variant COSMIC — — damaging likely_pathogenic (0.99) -13.94 COSV107405584
59 T→T synonymous_variant gnomAD — 2.90e-03 — — 0.00 chr17-76737086-G-A
59 T→S missense_variant COSMIC — — damaging likely_pathogenic (0.97) -10.44 COSV57971242
60 S→A missense_variant gnomAD — 6.85e-07 damaging likely_benign (0.28) -8.87 chr17-76737085-A-C
60 S→* stop_gained COSMIC — — LoF — — COSV57974905
61 P→P synonymous_variant gnomAD — 1.26e-04 — — 0.00 chr17-76737080-G-A
61 P→P synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737080-G-C
61 P→L missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.90) -11.62 chr17-76737081-G-A
62 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76737077-G-A
63 T→T synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737074-C-A
63 T→T synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr17-76737074-C-G
63 T→T synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr17-76737074-C-T
63 T→M missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.63) -10.44 chr17-76737075-G-A
64 L→L synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76737071-C-T
64 L→L synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737073-G-A
65 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737068-C-T
65 R→K missense_variant ClinVar Uncertain significance — damaging ambiguous (0.48) -10.31 ClinVar:3322754
66 R→R synonymous_variant gnomAD — 1.30e-05 — — 0.00 chr17-76737065-G-A
66 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76737065-G-T
67 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76737062-G-A
67 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737062-G-C
68 F→F synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr17-76737059-G-A
69 E→G missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.76) -11.19 chr17-76737057-T-C
69 E→K missense_variant COSMIC — — damaging likely_pathogenic (0.98) -15.69 COSV100334351
69 E→Q missense_variant COSMIC — — damaging likely_pathogenic (0.67) -10.25 COSV100333790
70 K→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.98) -12.19 chr17-76737054-T-G
71 Y→C missense_variant COSMIC — — damaging likely_pathogenic (0.96) -11.25 COSV106105353
72 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737047-C-A
73 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76737044-G-A
73 R→G missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.79) -12.62 chr17-76737046-G-C
74 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737041-G-A
74 V→V synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737041-G-C
75 G→G synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737038-G-A
75 G→G synonymous_variant gnomAD — 2.19e-05 — — 0.00 chr17-76737038-G-C
76 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76737035-G-A
78 Y→H missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (1.00) -13.69 chr17-76737031-A-G
78 Y→H missense_variant COSMIC — — damaging likely_pathogenic (1.00) -13.69 COSV57974482
79 I→I synonymous_variant gnomAD — 9.58e-06 — — 0.00 chr17-76737026-G-A
79 I→V missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.92) -9.31 chr17-76737028-T-C
80 P→P synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737023-C-T
80 P→Q missense_variant COSMIC — — damaging likely_pathogenic (1.00) -14.62 COSV100334268
81 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76737020-C-T
81 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737022-G-T
81 R→L missense_variant COSMIC — — damaging likely_pathogenic (0.98) -12.94 COSV100334359
81 R→Q missense_variant COSMIC — — damaging likely_pathogenic (0.96) -12.81 COSV57975806
81 R→R synonymous_variant COSMIC — — — — 0.00 COSV105204940
82 D→D synonymous_variant gnomAD — 9.17e-01 — — 0.00 chr17-76737017-G-A
82 D→D synonymous_variant ClinVar Benign — — — 0.00 ClinVar:3058855
82 D→D synonymous_variant COSMIC — — — — 0.00 COSV57970090
82 D→G missense_variant COSMIC — — damaging likely_pathogenic (1.00) -11.44 COSV100333551
83 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737014-G-A
83 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737014-G-C
84 Y→Y synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76737011-G-A
85 T→T synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr17-76737008-G-A
85 T→T synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76737008-G-C
85 T→S missense_variant gnomAD — 6.84e-07 — ambiguous (0.36) -6.00 chr17-76737010-T-A
85 T→I missense_variant COSMIC — — damaging likely_pathogenic (1.00) -12.62 COSV57973966
86 K→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.99) -12.87 chr17-76737005-C-G
86 K→K synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76737005-C-T
86 K→N missense_variant COSMIC — — damaging likely_pathogenic (0.99) -12.87 COSV57975681
87 E→E synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76737002-C-T
87 E→K missense_variant COSMIC — — damaging likely_pathogenic (0.99) -12.50 COSV57971542
88 S→S synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr17-76736999-G-A
88 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736999-G-C
88 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736999-G-T
88 S→F missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -14.62 chr17-76737000-G-A
88 S→F missense_variant COSMIC — — damaging likely_pathogenic (1.00) -14.62 COSV57971697
89 R→R synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr17-76736996-G-A
89 R→R synonymous_variant COSMIC — — — — 0.00 COSV100333874
89 — inframe_deletion COSMIC — — — — — COSV104631670
89 R→C missense_variant COSMIC — — damaging likely_pathogenic (1.00) -13.12 COSV100334372
90 G→G synonymous_variant gnomAD — 5.48e-05 — — 0.00 chr17-76736993-G-A
90 G→A missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (1.00) -13.06 chr17-76736994-C-G
90 G→G synonymous_variant COSMIC — — — — 0.00 COSV57975007
91 F→F synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736990-G-A
91 F→Y missense_variant gnomAD — 4.11e-06 damaging likely_pathogenic (0.98) -12.25 chr17-76736991-A-T
91 F→Y missense_variant COSMIC — — damaging likely_pathogenic (0.98) -12.25 COSV57969827
91 F→F synonymous_variant COSMIC — — — — 0.00 COSV57971830
92 A→A synonymous_variant gnomAD — 8.90e-06 — — 0.00 chr17-76736987-G-A
92 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736987-G-C
93 F→F synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736984-G-A
93 F→F synonymous_variant COSMIC — — — — 0.00 COSV57971488
94 — frameshift_variant COSMIC — — LoF — — COSV57976095
95 R→R synonymous_variant gnomAD — 2.88e-04 — — 0.00 chr17-76736978-G-A
95 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2648320
96 F→C missense_variant COSMIC — — damaging likely_pathogenic (1.00) -10.87 COSV57975437
97 H→H synonymous_variant gnomAD — 7.53e-06 — — 0.00 chr17-76736972-G-A
98 D→D synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr17-76736969-G-A
98 — frameshift_variant COSMIC — — LoF — — COSV57972740
99 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736966-C-T
99 — frameshift_variant COSMIC — — LoF — — COSV57975818
100 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736963-G-A
100 R→C missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.99) -10.62 chr17-76736965-G-A
100 R→C missense_variant COSMIC — — damaging likely_pathogenic (0.99) -10.62 COSV104631660
101 D→D synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr17-76736960-G-A
101 D→N missense_variant COSMIC — — damaging likely_pathogenic (1.00) -12.31 COSV57972402
103 E→Q missense_variant COSMIC — — damaging likely_pathogenic (0.84) -13.12 COSV57971054
103 E→K missense_variant COSMIC — — damaging likely_pathogenic (0.98) -13.87 COSV57971571
103 E→E synonymous_variant COSMIC — — — — 0.00 COSV57970132
103 E→G missense_variant COSMIC — — damaging likely_pathogenic (0.96) -12.12 COSV100333432
104 D→D synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736951-G-A
105 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736948-A-G
107 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736942-A-G
108 A→V missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.92) -9.68 chr17-76736940-G-A
110 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736933-G-A
110 D→G missense_variant COSMIC — — damaging likely_pathogenic (0.99) -12.75 COSV106105351
111 G→G synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736930-C-G
111 G→G synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736930-C-T
111 G→E missense_variant COSMIC — — damaging likely_pathogenic (1.00) -10.44 COSV57970049
111 G→V missense_variant COSMIC — — damaging likely_pathogenic (1.00) -11.69 COSV57972895
111 G→W missense_variant COSMIC — — damaging likely_pathogenic (1.00) -13.75 COSV57972710
112 A→A synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr17-76736927-G-A
112 A→A synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736927-G-T
113 V→V synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr17-76736924-C-A
113 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736924-C-T
113 V→M missense_variant gnomAD — 6.85e-07 damaging likely_benign (0.24) -9.56 chr17-76736926-C-T
114 — inframe_deletion COSMIC — — — — — COSV105204926
114 L→L synonymous_variant COSMIC — — — — 0.00 COSV100333428
114 L→L synonymous_variant COSMIC — — — — 0.00 COSV100333592
115 D→D synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736918-G-A
116 G→G synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736915-G-A
117 R→R synonymous_variant gnomAD — 5.96e-05 — — 0.00 chr17-76736912-G-A
117 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736912-G-C
118 E→K missense_variant COSMIC — — damaging likely_pathogenic (0.99) -14.06 COSV100333349
119 L→L synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736906-C-T
119 L→M missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.80) -9.75 chr17-76736908-G-T
120 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.99) -12.75 COSV57970233
121 V→V synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr17-76736900-C-A
121 V→V synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736900-C-T
121 V→L missense_variant COSMIC — — damaging likely_pathogenic (1.00) -10.19 COSV57973895
122 Q→Q synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736897-T-C
122 Q→E missense_variant COSMIC — — damaging likely_pathogenic (0.91) -11.50 COSV105204812
123 — frameshift_variant COSMIC — — LoF — — COSV109430540
125 R→R synonymous_variant gnomAD — 1.03e-05 — — 0.00 chr17-76736888-G-A
125 R→H missense_variant COSMIC — — damaging likely_pathogenic (0.96) -10.31 COSV57973261
126 Y→Y synonymous_variant gnomAD — 3.43e-06 — — 0.00 chr17-76736885-G-A
126 Y→* stop_gained gnomAD — 6.85e-07 LoF — — chr17-76736885-G-T
126 — inframe_insertion COSMIC — — — — — COSV107405566
126 Y→H missense_variant COSMIC — — damaging likely_pathogenic (1.00) -11.06 COSV57972572
127 — inframe_insertion COSMIC — — — — — COSV57970179
127 — inframe_insertion COSMIC — — — — — COSV57976123
127 G→R missense_variant COSMIC — — damaging likely_pathogenic (0.99) -12.81 COSV57976522
128 R→R synonymous_variant gnomAD — 8.22e-06 — — 0.00 chr17-76736879-G-A
128 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736879-G-C
128 R→R synonymous_variant COSMIC — — — — 0.00 COSV57973621
128 — inframe_insertion COSMIC — — — — — COSV106061289
128 R→R synonymous_variant COSMIC — — — — 0.00 COSV57975700
128 — frameshift_variant COSMIC — — LoF — — COSV100333398
128 R→C missense_variant COSMIC — — damaging likely_pathogenic (1.00) -11.31 COSV57973368
129 P→P synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736876-G-A
129 P→P synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736876-G-C
129 P→L missense_variant gnomAD — 4.66e-05 damaging likely_pathogenic (0.98) -11.25 chr17-76736877-G-A
129 P→R missense_variant gnomAD — 3.50e-05 damaging likely_pathogenic (0.96) -12.00 chr17-76736877-G-C
129 — inframe_insertion gnomAD — 2.74e-06 — — — chr17-76736877-G-GGGC
129 P→H missense_variant gnomAD — 9.53e-05 damaging likely_pathogenic (0.98) -12.81 chr17-76736877-G-T
129 P→S missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.98) -11.25 chr17-76736878-G-A
129 P→A missense_variant gnomAD — 7.54e-06 damaging likely_pathogenic (0.93) -10.81 chr17-76736878-G-C
129 P→T missense_variant gnomAD — 6.17e-06 damaging likely_pathogenic (0.97) -11.25 chr17-76736878-G-T
129 P→R missense_variant ClinVar Likely pathogenic — damaging likely_pathogenic (0.96) -12.00 ClinVar:998075
129 P→L missense_variant ClinVar Pathogenic — damaging likely_pathogenic (0.98) -11.25 ClinVar:2504111
129 — inframe_deletion COSMIC — — — — — COSV105204945
129 P→R missense_variant COSMIC — — damaging likely_pathogenic (0.96) -12.00 COSV57969809
129 P→H missense_variant COSMIC — — damaging likely_pathogenic (0.98) -12.81 COSV57969816
129 P→L missense_variant COSMIC — — damaging likely_pathogenic (0.98) -11.25 COSV57969830
129 P→A missense_variant COSMIC — — damaging likely_pathogenic (0.93) -10.81 COSV57970391
129 — frameshift_variant COSMIC — — LoF — — COSV57973092
129 P→T missense_variant COSMIC — — damaging likely_pathogenic (0.97) -11.25 COSV57970203
129 P→S missense_variant COSMIC — — damaging likely_pathogenic (0.98) -11.25 COSV57973308
129 — inframe_insertion COSMIC — — — — — COSV57970910
130 — frameshift_variant gnomAD — 6.86e-07 LoF — — chr17-76736873-C-CG
130 P→P synonymous_variant gnomAD — 4.11e-06 — — 0.00 chr17-76736873-C-T
130 P→L missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.69) -9.94 chr17-76736874-G-A
130 P→P synonymous_variant COSMIC — — — — 0.00 COSV107405573
130 P→L missense_variant COSMIC — — damaging likely_pathogenic (0.69) -9.94 COSV57973517
130 P→S missense_variant COSMIC — — damaging ambiguous (0.45) -9.25 COSV57975951
130 P→P synonymous_variant COSMIC — — — — 0.00 COSV57972166
131 D→D synonymous_variant gnomAD — 1.17e-05 — — 0.00 chr17-76736870-G-A
131 — inframe_deletion COSMIC — — — — — COSV57970067
131 D→Y missense_variant COSMIC — — damaging likely_pathogenic (0.92) -12.69 COSV57973792
132 S→S synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr17-76736867-T-G
132 S→* stop_gained COSMIC — — LoF — — COSV57970310
133 H→H synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736864-G-A
133 H→D missense_variant gnomAD — 6.86e-07 damaging likely_pathogenic (0.63) -13.01 chr17-76736866-G-C
133 — inframe_deletion COSMIC — — — — — COSV104631665
133 — inframe_deletion COSMIC — — — — — COSV57973179
133 H→L missense_variant COSMIC — — — likely_benign (0.18) -6.60 COSV57970252
134 H→H synonymous_variant gnomAD — 6.86e-06 — — 0.00 chr17-76736861-G-A
134 H→Y missense_variant gnomAD — 6.86e-07 — likely_benign (0.12) -2.44 chr17-76736863-G-A
134 H→D missense_variant gnomAD — 6.86e-07 damaging ambiguous (0.53) -9.97 chr17-76736863-G-C
134 — inframe_deletion COSMIC — — — — — COSV104631652
135 S→N missense_variant gnomAD — 6.86e-07 — likely_benign (0.26) -6.38 chr17-76736859-C-T
135 — inframe_deletion ClinVar — — — — — ClinVar:4530302
135 — inframe_deletion COSMIC — — — — — COSV57969801
135 S→S synonymous_variant COSMIC — — — — 0.00 COSV57971177
136 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736855-G-A
136 R→R synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr17-76736855-G-C
136 R→C missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (0.71) -11.31 chr17-76736857-G-A
136 — frameshift_variant COSMIC — — LoF — — COSV107405574
137 — inframe_deletion gnomAD — 7.56e-06 — — — chr17-76736853-CGGCGGCTGTGGTGTGAGTCCGGGG-C
137 R→W missense_variant gnomAD — 6.87e-07 damaging likely_pathogenic (0.57) -11.00 chr17-76736854-G-A
137 R→R synonymous_variant gnomAD — 6.87e-07 — — 0.00 chr17-76736854-G-T
137 — frameshift_variant COSMIC — — LoF — — COSV106105347
137 — frameshift_variant COSMIC — — LoF — — COSV57972338
137 — frameshift_variant COSMIC — — LoF — — COSV57970543
138 G→G synonymous_variant gnomAD — 6.88e-07 — — 0.00 chr17-76736849-T-G
138 G→A missense_variant gnomAD — 1.38e-06 — likely_benign (0.17) -6.87 chr17-76736850-C-G
138 G→R missense_variant gnomAD — 6.88e-07 damaging likely_pathogenic (0.81) -10.12 chr17-76736851-C-T
138 G→E missense_variant COSMIC — — damaging likely_pathogenic (0.68) -10.19 COSV57971413
139 P→P synonymous_variant gnomAD — 6.88e-07 — — 0.00 chr17-76736846-C-T
139 P→L missense_variant gnomAD — 6.88e-07 damaging likely_benign (0.13) -7.88 chr17-76736847-G-A
139 P→P synonymous_variant COSMIC — — — — 0.00 COSV57973921
139 P→L missense_variant COSMIC — — damaging likely_benign (0.13) -7.88 COSV57970711
140 P→P synonymous_variant gnomAD — 1.17e-05 — — 0.00 chr17-76736843-T-G
140 P→L missense_variant gnomAD — 1.86e-05 damaging likely_benign (0.16) -8.37 chr17-76736844-G-A
140 P→L missense_variant ClinVar Uncertain significance — damaging likely_benign (0.16) -8.37 ClinVar:2374008
140 P→P synonymous_variant COSMIC — — — — 0.00 COSV57972748
141 P→P synonymous_variant gnomAD — 6.89e-07 — — 0.00 chr17-76736840-G-C
141 P→L missense_variant gnomAD — 6.88e-07 damaging likely_benign (0.21) -7.74 chr17-76736841-G-A
141 P→S missense_variant gnomAD — 6.88e-07 — likely_benign (0.07) -5.09 chr17-76736842-G-A
141 P→H missense_variant COSMIC — — damaging likely_benign (0.21) -8.59 COSV57969958
141 P→S missense_variant COSMIC — — — likely_benign (0.07) -5.09 COSV106105346
141 — inframe_deletion COSMIC — — — — — COSV100333813
142 R→C missense_variant COSMIC — — damaging likely_pathogenic (0.63) -9.44 COSV105907621
142 R→L missense_variant COSMIC — — damaging ambiguous (0.37) -9.56 COSV100334001
143 R→G missense_variant gnomAD — 6.89e-07 damaging likely_benign (0.15) -8.94 chr17-76736836-T-C
144 Y→Y synonymous_variant gnomAD — 4.14e-06 — — 0.00 chr17-76736831-G-A
144 Y→C missense_variant COSMIC — — damaging likely_benign (0.23) -7.98 COSV57975000
145 G→G synonymous_variant gnomAD — 1.10e-05 — — 0.00 chr17-76736828-C-T
146 G→G synonymous_variant gnomAD — 2.08e-06 — — 0.00 chr17-76736825-G-A
146 G→G synonymous_variant gnomAD — 6.93e-07 — — 0.00 chr17-76736825-G-T
146 G→S missense_variant gnomAD — 2.76e-06 — likely_benign (0.09) -5.31 chr17-76736827-C-T
147 G→G synonymous_variant gnomAD — 1.11e-05 — — 0.00 chr17-76736822-A-G
147 G→G synonymous_variant gnomAD — 1.39e-06 — — 0.00 chr17-76736822-A-T
147 G→C missense_variant gnomAD — 6.94e-07 damaging likely_benign (0.18) -9.05 chr17-76736824-C-A
148 G→G synonymous_variant gnomAD — 2.78e-06 — — 0.00 chr17-76736819-G-A
148 — inframe_deletion COSMIC — — — — — COSV105204960
148 — inframe_deletion COSMIC — — — — — COSV57971252
149 Y→Y synonymous_variant gnomAD — 2.79e-06 — — 0.00 chr17-76736816-G-A
149 Y→C missense_variant gnomAD — 1.39e-06 damaging likely_benign (0.18) -7.75 chr17-76736817-T-C
149 Y→N missense_variant gnomAD — 6.96e-07 damaging likely_benign (0.21) -7.50 chr17-76736818-A-T
150 G→G synonymous_variant gnomAD — 2.09e-06 — — 0.00 chr17-76736813-T-C
150 G→E missense_variant gnomAD — 1.40e-06 damaging likely_pathogenic (0.57) -9.81 chr17-76736814-C-T
150 — frameshift_variant COSMIC — — LoF — — COSV57974143
151 R→C missense_variant gnomAD — 1.40e-06 damaging likely_pathogenic (0.59) -9.37 chr17-76736812-G-A
152 R→R synonymous_variant gnomAD — 7.04e-07 — — 0.00 chr17-76736807-C-G
152 R→R synonymous_variant gnomAD — 6.33e-06 — — 0.00 chr17-76736807-C-T
152 R→W missense_variant gnomAD — 4.91e-06 damaging likely_pathogenic (0.68) -10.37 chr17-76736809-G-A
152 R→G missense_variant gnomAD — 7.02e-07 damaging likely_benign (0.33) -9.19 chr17-76736809-G-C
152 R→Q missense_variant COSMIC — — damaging ambiguous (0.45) -9.56 COSV105204918
154 R→R synonymous_variant gnomAD — 1.42e-06 — — 0.00 chr17-76736801-G-T
154 R→L missense_variant gnomAD — 1.42e-06 damaging ambiguous (0.55) -10.19 chr17-76736802-C-A
154 R→L missense_variant COSMIC — — damaging ambiguous (0.55) -10.19 COSV57974278
155 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736464-G-A
155 S→S synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:4175278
156 P→P synonymous_variant gnomAD — 2.06e-06 — — 0.00 chr17-76736461-A-G
157 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.76) -10.50 COSV57975936
158 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736455-C-T
158 R→R synonymous_variant gnomAD — 7.54e-06 — — 0.00 chr17-76736457-G-T
159 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736452-A-G
159 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736452-A-T
159 R→C missense_variant gnomAD — 3.43e-06 damaging likely_pathogenic (0.81) -10.56 chr17-76736454-G-A
159 R→S missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.69) -8.87 chr17-76736454-G-T
159 R→H missense_variant COSMIC — — damaging ambiguous (0.54) -8.62 COSV57974065
160 R→R synonymous_variant gnomAD — 4.92e-04 — — 0.00 chr17-76736449-G-A
160 R→P missense_variant gnomAD — 6.85e-07 damaging ambiguous (0.56) -10.69 chr17-76736450-C-G
160 R→H missense_variant gnomAD — 1.37e-06 — ambiguous (0.38) -7.03 chr17-76736450-C-T
160 R→C missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.75) -10.62 chr17-76736451-G-A
161 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736446-G-A
161 R→L missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.64) -11.18 chr17-76736447-C-A
161 R→H missense_variant gnomAD — 6.85e-07 — ambiguous (0.45) -5.74 chr17-76736447-C-T
161 R→C missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.77) -10.06 chr17-76736448-G-A
161 R→C missense_variant COSMIC — — damaging likely_pathogenic (0.77) -10.06 COSV100334380
162 S→S synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736443-G-A
162 — inframe_insertion gnomAD — 4.79e-06 — — — chr17-76736445-T-TGCG
162 S→R missense_variant COSMIC — — damaging likely_pathogenic (0.94) -10.81 COSV100333499
162 S→I missense_variant COSMIC — — damaging likely_pathogenic (0.95) -12.87 COSV105204845
163 R→R synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736440-T-A
163 — inframe_deletion gnomAD — 6.85e-07 — — — chr17-76736441-CGGCTGCGGCGACGCCGCCTAG-C
163 R→G missense_variant gnomAD — 3.42e-06 damaging likely_pathogenic (0.62) -10.00 chr17-76736442-G-C
163 R→L missense_variant COSMIC — — damaging likely_pathogenic (0.71) -10.56 COSV57973085
163 R→* stop_gained COSMIC — — LoF — — COSV57976044
163 R→G missense_variant COSMIC — — damaging likely_pathogenic (0.62) -10.00 COSV100333944
164 S→S synonymous_variant gnomAD — 8.22e-06 — — 0.00 chr17-76736437-G-A
164 S→F missense_variant COSMIC — — damaging likely_pathogenic (0.92) -15.37 COSV57973891
165 R→R synonymous_variant gnomAD — 6.85e-07 — — 0.00 chr17-76736434-C-T
165 R→W missense_variant gnomAD — 6.85e-07 damaging likely_pathogenic (0.81) -10.12 chr17-76736436-G-A
165 R→G missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.71) -9.69 chr17-76736436-G-C
165 R→R synonymous_variant COSMIC — — — — 0.00 COSV57971406
166 S→R missense_variant COSMIC — — damaging likely_pathogenic (0.94) -12.12 COSV57975535
166 — frameshift_variant COSMIC — — LoF — — COSV57975990
167 R→R synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr17-76736428-C-A
167 R→R synonymous_variant COSMIC — — — — 0.00 COSV100333370
167 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.81) -10.69 COSV57976101
168 S→S synonymous_variant gnomAD — 9.99e-01 — — 0.00 chr17-76736425-A-G
168 S→S synonymous_variant COSMIC — — — — 0.00 COSV57969985
169 R→P missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.66) -9.69 chr17-76736423-C-G
169 R→C missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.84) -10.31 chr17-76736424-G-A
170 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736419-G-A
170 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736419-G-C
170 S→C missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.71) -12.06 chr17-76736420-G-C
170 S→C missense_variant COSMIC — — damaging likely_pathogenic (0.71) -12.06 COSV57972981
171 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736416-C-T
171 R→T missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.84) -13.56 chr17-76736417-C-G
171 R→T missense_variant COSMIC — — damaging likely_pathogenic (0.84) -13.56 COSV57974775
172 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736413-A-G
173 R→P missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.68) -10.19 chr17-76736411-C-G
173 — inframe_deletion COSMIC — — — — — COSV57975058
173 R→R synonymous_variant COSMIC — — — — 0.00 COSV57971081
174 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736407-G-A
174 S→N missense_variant COSMIC — — damaging likely_pathogenic (0.84) -13.12 COSV100333479
175 R→L missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.72) -10.06 chr17-76736405-C-A
175 R→Q missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.58) -9.56 chr17-76736405-C-T
175 R→G missense_variant gnomAD — 1.09e-05 damaging likely_pathogenic (0.62) -9.50 chr17-76736406-G-C
175 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736406-G-T
175 R→G missense_variant ClinVar Uncertain significance — damaging likely_pathogenic (0.62) -9.50 ClinVar:4175279
176 — inframe_deletion gnomAD — 1.37e-06 — — — chr17-76736401-AGATCGGCTGCGAGACCTGGAACGACTCCGACTCCGG-A
176 S→F missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.80) -11.50 chr17-76736402-G-A
176 S→F missense_variant COSMIC — — damaging likely_pathogenic (0.80) -11.50 COSV57972950
177 R→C missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.77) -9.69 chr17-76736400-G-A
178 Y→Y synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736395-G-A
178 Y→C missense_variant gnomAD — 1.37e-06 damaging ambiguous (0.46) -10.00 chr17-76736396-T-C
179 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736392-G-A
180 R→R synonymous_variant gnomAD — 7.53e-06 — — 0.00 chr17-76736389-G-A
180 R→C missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.80) -10.37 chr17-76736391-G-A
180 R→G missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.64) -9.62 chr17-76736391-G-C
180 R→R synonymous_variant COSMIC — — — — 0.00 COSV57971107
181 S→S synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736386-C-T
181 S→W missense_variant COSMIC — — damaging likely_pathogenic (0.80) -16.75 COSV57970778
182 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736383-C-T
182 K→M missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.81) -11.94 chr17-76736384-T-A
183 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736380-A-C
183 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736380-A-G
183 S→P missense_variant COSMIC — — damaging likely_pathogenic (0.72) -11.62 COSV57974021
184 R→W missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.58) -11.19 chr17-76736379-G-A
184 R→W missense_variant COSMIC — — damaging likely_pathogenic (0.58) -11.19 COSV57972607
185 S→S synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr17-76736374-G-A
185 S→P missense_variant COSMIC — — damaging likely_pathogenic (0.61) -10.00 COSV57976742
186 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736371-G-A
186 R→S missense_variant gnomAD — 1.37e-06 damaging ambiguous (0.55) -12.10 chr17-76736373-G-T
186 R→S missense_variant COSMIC — — damaging ambiguous (0.55) -12.10 COSV57970454
187 T→S missense_variant gnomAD — 1.37e-06 — likely_benign (0.08) -6.19 chr17-76736369-G-C
187 T→A missense_variant COSMIC — — damaging likely_benign (0.21) -10.00 COSV57970153
188 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736365-A-G
188 R→R synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736365-A-T
188 R→P missense_variant gnomAD — 2.74e-06 damaging ambiguous (0.47) -9.31 chr17-76736366-C-G
188 R→H missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.30) -8.37 chr17-76736366-C-T
188 R→L missense_variant COSMIC — — damaging ambiguous (0.49) -9.81 COSV105907599
189 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736362-A-T
190 R→* stop_gained gnomAD — 6.84e-07 LoF — — chr17-76736361-G-A
190 R→R synonymous_variant COSMIC — — — — 0.00 COSV57974816
191 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736356-A-C
191 S→S synonymous_variant gnomAD — 4.10e-06 — — 0.00 chr17-76736356-A-T
191 S→T missense_variant COSMIC — — — likely_benign (0.23) -6.25 COSV57971032
192 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736353-C-T
193 — inframe_insertion gnomAD — 6.84e-07 — — — chr17-76736350-C-CGACCGA
193 — inframe_deletion gnomAD — 6.84e-07 — — — chr17-76736350-CGACCGAGATCGAGAACGAGTGCGG-C
194 T→T synonymous_variant gnomAD — 4.79e-06 — — 0.00 chr17-76736347-G-A
194 T→T synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736347-G-C
194 T→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.33) -7.24 chr17-76736348-G-A
194 T→S missense_variant gnomAD — 6.84e-07 — likely_benign (0.10) -7.43 chr17-76736348-G-C
195 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736344-G-A
195 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736344-G-C
196 K→K synonymous_variant gnomAD — 3.42e-06 — — 0.00 chr17-76736341-C-T
196 K→R missense_variant COSMIC — — damaging likely_benign (0.09) -7.94 COSV100334368
197 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736338-G-A
197 S→C missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.36) -10.06 chr17-76736339-G-C
198 R→S missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.47) -11.00 chr17-76736335-T-A
199 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736332-G-A
199 S→S synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736332-G-C
200 A→A synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736329-T-C
200 A→V missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -5.21 chr17-76736330-G-A
200 A→G missense_variant gnomAD — 6.84e-07 — likely_benign (0.12) -7.49 chr17-76736330-G-C
200 A→S missense_variant COSMIC — — damaging likely_benign (0.08) -8.05 COSV57975065
200 A→G missense_variant COSMIC — — — likely_benign (0.12) -7.49 COSV108152078
201 R→Q missense_variant gnomAD — 2.05e-06 damaging likely_benign (0.20) -8.44 chr17-76736327-C-T
201 R→G missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.22) -9.37 chr17-76736328-G-C
201 R→L missense_variant COSMIC — — damaging ambiguous (0.40) -9.19 COSV57975979
201 R→Q missense_variant COSMIC — — damaging likely_benign (0.20) -8.44 COSV57969995
202 R→S missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.63) -10.00 chr17-76736323-C-G
202 R→R synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736323-C-T
202 R→K missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.19) -9.31 chr17-76736324-C-T
202 R→G missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.35) -9.19 chr17-76736325-T-C
202 R→R synonymous_variant ClinVar Likely benign — — — 0.00 ClinVar:2648319
202 R→K missense_variant COSMIC — — damaging likely_benign (0.19) -9.31 COSV57976409
203 S→S synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736320-G-A
203 — frameshift_variant COSMIC — — LoF — — COSV57975760
203 S→F missense_variant COSMIC — — damaging ambiguous (0.52) -10.75 COSV57971348
203 S→T missense_variant COSMIC — — damaging likely_benign (0.13) -9.75 COSV57976544
204 K→K synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736317-C-T
204 — inframe_insertion gnomAD — 6.84e-07 — — — chr17-76736318-T-TTGGACC
204 — inframe_deletion gnomAD — 1.37e-06 — — — chr17-76736318-TTGGACC-T
204 — frameshift_variant COSMIC — — LoF — — COSV57975872
204 — inframe_deletion COSMIC — — — — — COSV57976006
204 K→R missense_variant COSMIC — — damaging likely_benign (0.08) -7.62 COSV106486863
205 S→Y missense_variant COSMIC — — damaging ambiguous (0.36) -12.94 COSV57970844
206 K→N missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.72) -8.87 chr17-76736311-C-A
206 K→K synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736311-C-T
206 — inframe_deletion gnomAD — 1.37e-06 — — — chr17-76736312-TTGGACTTGGACCTTCGTGCGGATC-T
206 K→Q missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.30) -9.87 chr17-76736313-T-G
206 K→R missense_variant COSMIC — — — likely_benign (0.08) -6.65 COSV57970592
207 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736308-G-A
207 S→F missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.47) -11.69 chr17-76736309-G-A
207 S→T missense_variant gnomAD — 2.74e-06 damaging likely_benign (0.11) -8.44 chr17-76736310-A-T
207 S→F missense_variant COSMIC — — damaging ambiguous (0.47) -11.69 COSV57976089
208 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736305-C-T
208 S→L missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.19) -7.93 chr17-76736306-G-A
208 — inframe_insertion gnomAD — 2.33e-05 — — — chr17-76736307-A-AGGACTT
208 — inframe_deletion gnomAD — 4.99e-05 — — — chr17-76736307-AGGACTT-A
209 S→S synonymous_variant gnomAD — 8.21e-06 — — 0.00 chr17-76736302-C-A
209 — inframe_insertion gnomAD — 6.84e-07 — — — chr17-76736302-C-CGACGAG
209 S→L missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.29) -11.12 chr17-76736303-G-A
210 V→V synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736299-G-A
210 V→V synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736299-G-C
210 V→L missense_variant gnomAD — 1.37e-06 — likely_benign (0.20) -5.32 chr17-76736301-C-G
210 V→I missense_variant gnomAD — 6.84e-07 — likely_benign (0.11) -4.47 chr17-76736301-C-T
211 S→C missense_variant gnomAD — 3.42e-06 damaging likely_benign (0.32) -11.19 chr17-76736297-G-C
211 S→C missense_variant ClinVar Uncertain significance — damaging likely_benign (0.32) -11.19 ClinVar:2310902
213 S→S synonymous_variant gnomAD — 2.74e-06 — — 0.00 chr17-76736290-A-C
213 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736290-A-G
213 S→F missense_variant COSMIC — — damaging likely_pathogenic (0.66) -11.62 COSV57972944
213 S→C missense_variant COSMIC — — damaging ambiguous (0.37) -10.75 COSV57971481
214 R→H missense_variant gnomAD — 6.84e-07 — likely_benign (0.31) -7.19 chr17-76736288-C-T
214 R→C missense_variant gnomAD — 2.05e-06 damaging ambiguous (0.50) -9.06 chr17-76736289-G-A
214 R→G missense_variant gnomAD — 1.01e-04 damaging ambiguous (0.39) -9.31 chr17-76736289-G-C
215 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736284-C-G
215 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736284-C-T
215 S→T missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.24) -9.50 chr17-76736286-A-T
216 R→P missense_variant gnomAD — 1.37e-06 — ambiguous (0.38) -7.47 chr17-76736282-C-G
216 R→Q missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.26) -8.12 chr17-76736282-C-T
216 R→W missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.47) -10.68 chr17-76736283-G-A
216 R→R synonymous_variant COSMIC — — — — 0.00 COSV105907609
217 S→Y missense_variant COSMIC — — damaging ambiguous (0.49) -13.50 COSV57973406
217 S→F missense_variant COSMIC — — damaging likely_pathogenic (0.64) -12.75 COSV105204855
218 R→S missense_variant gnomAD — 1.37e-06 damaging likely_pathogenic (0.58) -10.37 chr17-76736275-C-A
218 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736275-C-T
219 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736272-G-A
220 R→R synonymous_variant gnomAD — 4.10e-06 — — 0.00 chr17-76736269-C-T
220 R→L missense_variant gnomAD — 2.68e-04 damaging ambiguous (0.36) -8.93 chr17-76736270-C-A
220 R→W missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.45) -11.43 chr17-76736271-G-A
220 — inframe_deletion gnomAD — 1.37e-06 — — — chr17-76736271-GGGACCT-G
220 — inframe_deletion ClinVar Uncertain significance — — — — ClinVar:423166
220 R→L missense_variant ClinVar Uncertain significance — damaging ambiguous (0.36) -8.93 ClinVar:2464223
220 R→G missense_variant ClinVar Uncertain significance — damaging likely_benign (0.31) -9.12 ClinVar:2536561
220 — inframe_insertion COSMIC — — — — — COSV100333671
221 — inframe_insertion gnomAD — 6.84e-07 — — — chr17-76736266-A-AGACCGG
221 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736266-A-G
221 S→F missense_variant gnomAD — 6.84e-07 damaging likely_pathogenic (0.58) -11.19 chr17-76736267-G-A
222 R→P missense_variant gnomAD — 2.05e-06 — likely_benign (0.33) -7.15 chr17-76736264-C-G
222 R→G missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.28) -8.49 chr17-76736265-G-C
222 — inframe_deletion COSMIC — — — — — COSV105907635
223 — inframe_insertion gnomAD — 6.84e-07 — — — chr17-76736260-G-GGACCGA
224 R→S missense_variant gnomAD — 6.84e-07 — ambiguous (0.48) -6.93 chr17-76736257-C-A
224 R→R synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736257-C-T
224 R→K missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.15) -10.12 chr17-76736258-C-T
225 — inframe_deletion gnomAD — 6.84e-07 — — — chr17-76736256-TCCTGGACCGAGACCGGGA-T
226 P→L missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) -5.68 chr17-76736252-G-A
227 P→L missense_variant gnomAD — 1.30e-05 — likely_benign (0.11) -6.24 chr17-76736249-G-A
227 P→A missense_variant gnomAD — 1.44e-05 — likely_benign (0.06) -6.08 chr17-76736250-G-C
227 P→S missense_variant COSMIC — — — likely_benign (0.08) -5.86 COSV57970072
228 P→P synonymous_variant gnomAD — 5.47e-06 — — 0.00 chr17-76736245-T-C
228 P→P synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736245-T-G
228 P→S missense_variant gnomAD — 6.16e-06 — likely_benign (0.09) -6.30 chr17-76736247-G-A
228 P→P synonymous_variant COSMIC — — — — 0.00 COSV57973592
229 V→A missense_variant gnomAD — 2.05e-06 — likely_benign (0.07) 0.25 chr17-76736243-A-G
229 V→E missense_variant gnomAD — 6.84e-07 — likely_benign (0.18) -6.25 chr17-76736243-A-T
229 V→M missense_variant gnomAD — 4.10e-06 — likely_benign (0.16) -6.18 chr17-76736244-C-T
229 V→L missense_variant COSMIC — — — likely_benign (0.11) -5.59 COSV57972503
229 V→M missense_variant COSMIC — — — likely_benign (0.16) -6.18 COSV57971844
230 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736239-G-A
230 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736239-G-C
230 S→F missense_variant gnomAD — 3.42e-06 damaging likely_benign (0.28) -10.04 chr17-76736240-G-A
230 S→C missense_variant gnomAD — 6.84e-07 — likely_benign (0.13) -7.20 chr17-76736240-G-C
230 S→F missense_variant COSMIC — — damaging likely_benign (0.28) -10.04 COSV57972932
231 K→K synonymous_variant gnomAD — 6.16e-06 — — 0.00 chr17-76736236-C-T
231 K→Q missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.14) -7.87 chr17-76736238-T-G
231 K→N missense_variant COSMIC — — damaging ambiguous (0.42) -8.06 COSV57969991
232 R→R synonymous_variant gnomAD — 1.09e-05 — — 0.00 chr17-76736233-C-T
232 R→G missense_variant gnomAD — 1.57e-05 damaging likely_benign (0.16) -7.97 chr17-76736235-T-C
234 S→S synonymous_variant COSMIC — — — — 0.00 COSV100333711
234 S→F missense_variant COSMIC — — damaging ambiguous (0.37) -9.94 COSV57974373
235 — inframe_deletion COSMIC — — — — — COSV57972694
236 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736221-G-A
236 S→F missense_variant COSMIC — — damaging ambiguous (0.46) -12.56 COSV106061290
237 R→R synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736218-C-T
237 — inframe_deletion gnomAD — 6.84e-07 — — — chr17-76736219-CTGGATT-C
237 R→K missense_variant COSMIC — — — likely_benign (0.15) -5.43 COSV105204954
238 S→S synonymous_variant gnomAD — 6.84e-07 — — 0.00 chr17-76736215-C-A
238 S→W missense_variant gnomAD — 6.84e-07 damaging ambiguous (0.47) -16.62 chr17-76736216-G-C
238 S→* stop_gained gnomAD — 6.84e-07 LoF — — chr17-76736216-G-T
238 S→L missense_variant COSMIC — — damaging ambiguous (0.40) -12.69 COSV57975383
239 R→P missense_variant gnomAD — 6.84e-06 — likely_benign (0.33) -7.34 chr17-76736213-C-G
239 R→Q missense_variant gnomAD — 4.10e-06 — likely_benign (0.22) -7.47 chr17-76736213-C-T
239 R→P missense_variant ClinVar Uncertain significance — — likely_benign (0.33) -7.34 ClinVar:4589767
239 R→L missense_variant COSMIC — — damaging ambiguous (0.35) -8.56 COSV57970563
240 S→L missense_variant COSMIC — — damaging ambiguous (0.43) -13.37 COSV105204790
240 S→S synonymous_variant COSMIC — — — — 0.00 COSV57971197
240 S→S synonymous_variant COSMIC — — — — 0.00 COSV57969978
240 S→A missense_variant COSMIC — — damaging likely_benign (0.19) -12.06 COSV57974847
241 K→N missense_variant COSMIC — — damaging likely_pathogenic (0.70) -9.44 COSV106061291
241 — mnv COSMIC — — — — — COSV57969971
241 K→* stop_gained COSMIC — — LoF — — COSV57969965
242 S→S synonymous_variant gnomAD — 3.76e-05 — — 0.00 chr17-76736203-A-G
242 S→T missense_variant gnomAD — 6.84e-07 damaging likely_benign (0.10) -8.50 chr17-76736204-C-G
243 P→L missense_variant gnomAD — 1.37e-06 — likely_benign (0.11) -4.87 chr17-76736201-G-A
243 P→A missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.07) -8.62 chr17-76736202-G-C
243 P→T missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.08) -10.05 chr17-76736202-G-T
243 P→L missense_variant ClinVar Uncertain significance — — likely_benign (0.11) -4.87 ClinVar:3801697
243 — frameshift_variant COSMIC — — LoF — — COSV57971537
243 P→S missense_variant COSMIC — — damaging likely_benign (0.10) -9.24 COSV105204916
243 P→T missense_variant COSMIC — — damaging likely_benign (0.08) -10.05 COSV57973286
244 P→P synonymous_variant gnomAD — 7.60e-05 — — 0.00 chr17-76736197-G-A
244 P→L missense_variant gnomAD — 3.42e-06 — likely_benign (0.13) -6.81 chr17-76736198-G-A
244 P→R missense_variant gnomAD — 1.37e-06 damaging likely_benign (0.13) -7.56 chr17-76736198-G-C
244 P→S missense_variant gnomAD — 1.37e-06 — likely_benign (0.10) -7.34 chr17-76736199-G-A
244 P→A missense_variant gnomAD — 6.84e-07 — likely_benign (0.07) -5.77 chr17-76736199-G-C
245 — frameshift_variant gnomAD — 1.37e-06 LoF — — chr17-76736196-T-TG
245 — inframe_deletion gnomAD — 2.05e-06 — — — chr17-76736196-TGGG-T
246 S→S synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736191-A-G
246 S→F missense_variant COSMIC — — damaging likely_benign (0.24) -11.56 COSV57972641
247 P→P synonymous_variant gnomAD — 1.37e-06 — — 0.00 chr17-76736188-A-C
247 P→P synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736188-A-G
247 — mnv COSMIC — — — — — COSV57972215
247 P→S missense_variant COSMIC — — damaging likely_benign (0.09) -10.81 COSV57975882
248 E→E synonymous_variant gnomAD — 2.05e-06 — — 0.00 chr17-76736185-T-C
248 E→* stop_gained gnomAD — 6.85e-07 LoF — — chr17-76736187-C-A
249 E→G missense_variant gnomAD — 6.85e-07 damaging likely_benign (0.10) -8.56 chr17-76736183-T-C
249 — frameshift_variant COSMIC — — LoF — — COSV57976737
249 E→K missense_variant COSMIC — — damaging likely_benign (0.18) -9.37 COSV57969999
250 — inframe_deletion gnomAD — 6.86e-07 — — — chr17-76736179-TTCC-T
250 E→G missense_variant gnomAD — 6.86e-07 damaging likely_benign (0.09) -8.93 chr17-76736180-T-C
250 E→K missense_variant gnomAD — 6.85e-07 damaging likely_benign (0.17) -10.43 chr17-76736181-C-T
250 E→D missense_variant COSMIC — — — likely_benign (0.08) -4.55 COSV57974298
250 — inframe_deletion COSMIC — — — — — COSV106486861
251 G→A missense_variant gnomAD — 6.86e-07 — likely_benign (0.10) -6.84 chr17-76736177-C-G
251 G→G synonymous_variant COSMIC — — — — 0.00 COSV57974490
252 A→V missense_variant gnomAD — 6.87e-07 — likely_benign (0.10) -6.27 chr17-76736174-G-A
252 A→G missense_variant gnomAD — 6.87e-07 — likely_benign (0.07) -6.62 chr17-76736174-G-C
252 A→T missense_variant COSMIC — — — likely_benign (0.07) -7.06 COSV100333608
253 V→V synonymous_variant gnomAD — 4.13e-06 — — 0.00 chr17-76736170-C-T
253 V→M missense_variant gnomAD — 6.87e-07 damaging likely_benign (0.14) -7.67 chr17-76736172-C-T
254 S→S synonymous_variant gnomAD — 1.45e-05 — — 0.00 chr17-76736167-G-A
254 S→F missense_variant gnomAD — 4.13e-06 damaging likely_benign (0.21) -10.19 chr17-76736168-G-A
254 S→F missense_variant COSMIC — — damaging likely_benign (0.21) -10.19 COSV57973998
254 S→C missense_variant COSMIC — — damaging likely_benign (0.13) -9.25 COSV57974683
255 S→F missense_variant gnomAD — 2.76e-06 damaging ambiguous (0.36) -10.75 chr17-76736165-G-A

592 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