UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99769013_99776930del | CA1139660679 | VPS13B | c.7322+2043_7478del n.7392+2043_7548del c.*3004+2043_*3160del c.7247+2043_7403del n.377+2043_378-1752del c.7319+2043_7475del c.7244+2043_7400del c.6944+2043_7100del c.4208+2043_4364del c.3101+2043_3257del n.1830+5550_2065+1677del c.7127+2043_7283del c.2879+2043_3035del c.6107+2043_6263del | ClinVar |
| 8 | g.99776869C>A | CA371875729 | VPS13B | c.7417C>A (p.Pro2473Thr) n.7487C>A c.*3099C>A (n.*3099C>A) c.7342C>A (p.Pro2448Thr) n.378-1813C>A c.7414C>A (p.Pro2472Thr) c.7339C>A (p.Pro2447Thr) c.7039C>A (p.Pro2347Thr) c.4303C>A (p.Pro1435Thr) c.3196C>A (p.Pro1066Thr) n.1830+5609G>T c.7222C>A (p.Pro2408Thr) c.2974C>A (p.Pro992Thr) c.6202C>A (p.Pro2068Thr) | |
| 8 | g.99776869C>G | CA371875730 | VPS13B | c.7417C>G (p.Pro2473Ala) n.7487C>G c.*3099C>G (n.*3099C>G) c.7342C>G (p.Pro2448Ala) n.378-1813C>G c.7414C>G (p.Pro2472Ala) c.7339C>G (p.Pro2447Ala) c.7039C>G (p.Pro2347Ala) c.4303C>G (p.Pro1435Ala) c.3196C>G (p.Pro1066Ala) n.1830+5609G>C c.7222C>G (p.Pro2408Ala) c.2974C>G (p.Pro992Ala) c.6202C>G (p.Pro2068Ala) | |
| 8 | g.99776869C>T | CA371875731 | VPS13B | c.7417C>T (p.Pro2473Ser) n.7487C>T c.*3099C>T (n.*3099C>T) c.7342C>T (p.Pro2448Ser) n.378-1813C>T c.7414C>T (p.Pro2472Ser) c.7339C>T (p.Pro2447Ser) c.7039C>T (p.Pro2347Ser) c.4303C>T (p.Pro1435Ser) c.3196C>T (p.Pro1066Ser) n.1830+5609G>A c.7222C>T (p.Pro2408Ser) c.2974C>T (p.Pro992Ser) c.6202C>T (p.Pro2068Ser) | dbSNP COSMIC COSMIC |
| 8 | g.99776870C>A | CA371875732 | VPS13B | c.7418C>A (p.Pro2473Gln) n.7488C>A c.*3100C>A (n.*3100C>A) c.7343C>A (p.Pro2448Gln) n.378-1812C>A c.7415C>A (p.Pro2472Gln) c.7340C>A (p.Pro2447Gln) c.7040C>A (p.Pro2347Gln) c.4304C>A (p.Pro1435Gln) c.3197C>A (p.Pro1066Gln) n.1830+5608G>T c.7223C>A (p.Pro2408Gln) c.2975C>A (p.Pro992Gln) c.6203C>A (p.Pro2068Gln) | |
| 8 | g.99776870C>G | CA371875733 | VPS13B | c.7418C>G (p.Pro2473Arg) n.7488C>G c.*3100C>G (n.*3100C>G) c.7343C>G (p.Pro2448Arg) n.378-1812C>G c.7415C>G (p.Pro2472Arg) c.7340C>G (p.Pro2447Arg) c.7040C>G (p.Pro2347Arg) c.4304C>G (p.Pro1435Arg) c.3197C>G (p.Pro1066Arg) n.1830+5608G>C c.7223C>G (p.Pro2408Arg) c.2975C>G (p.Pro992Arg) c.6203C>G (p.Pro2068Arg) | |
| 8 | g.99776870C>T | CA371875734 | VPS13B | c.7418C>T (p.Pro2473Leu) n.7488C>T c.*3100C>T (n.*3100C>T) c.7343C>T (p.Pro2448Leu) n.378-1812C>T c.7415C>T (p.Pro2472Leu) c.7340C>T (p.Pro2447Leu) c.7040C>T (p.Pro2347Leu) c.4304C>T (p.Pro1435Leu) c.3197C>T (p.Pro1066Leu) n.1830+5608G>A c.7223C>T (p.Pro2408Leu) c.2975C>T (p.Pro992Leu) c.6203C>T (p.Pro2068Leu) | dbSNP COSMIC COSMIC |
| 8 | g.99776871A>C | CA462449198 | VPS13B | c.7419A>C (p.Pro2473=) n.7489A>C c.*3101A>C (n.*3101A>C) c.7344A>C (p.Pro2448=) n.378-1811A>C c.7416A>C (p.Pro2472=) c.7341A>C (p.Pro2447=) c.7041A>C (p.Pro2347=) c.4305A>C (p.Pro1435=) c.3198A>C (p.Pro1066=) n.1830+5607T>G c.7224A>C (p.Pro2408=) c.2976A>C (p.Pro992=) c.6204A>C (p.Pro2068=) | |
| 8 | g.99776871A>G | CA4824195 | VPS13B | c.7419A>G (p.Pro2473=) n.7489A>G c.*3101A>G (n.*3101A>G) c.7344A>G (p.Pro2448=) n.378-1811A>G c.7416A>G (p.Pro2472=) c.7341A>G (p.Pro2447=) c.7041A>G (p.Pro2347=) c.4305A>G (p.Pro1435=) c.3198A>G (p.Pro1066=) n.1830+5607T>C c.7224A>G (p.Pro2408=) c.2976A>G (p.Pro992=) c.6204A>G (p.Pro2068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99776871A>T | CA462449199 | VPS13B | c.7419A>T (p.Pro2473=) n.7489A>T c.*3101A>T (n.*3101A>T) c.7344A>T (p.Pro2448=) n.378-1811A>T c.7416A>T (p.Pro2472=) c.7341A>T (p.Pro2447=) c.7041A>T (p.Pro2347=) c.4305A>T (p.Pro1435=) c.3198A>T (p.Pro1066=) n.1830+5607T>A c.7224A>T (p.Pro2408=) c.2976A>T (p.Pro992=) c.6204A>T (p.Pro2068=) | ClinVar |
| 8 | g.99776872T>A | CA371875735 | VPS13B | c.7420T>A (p.Trp2474Arg) n.7490T>A c.*3102T>A (n.*3102T>A) c.7345T>A (p.Trp2449Arg) n.378-1810T>A c.7417T>A (p.Trp2473Arg) c.7342T>A (p.Trp2448Arg) c.7042T>A (p.Trp2348Arg) c.4306T>A (p.Trp1436Arg) c.3199T>A (p.Trp1067Arg) n.1830+5606A>T c.7225T>A (p.Trp2409Arg) c.2977T>A (p.Trp993Arg) c.6205T>A (p.Trp2069Arg) | |
| 8 | g.99776872T>C | CA183041732 | VPS13B | c.7420T>C (p.Trp2474Arg) n.7490T>C c.*3102T>C (n.*3102T>C) c.7345T>C (p.Trp2449Arg) n.378-1810T>C c.7417T>C (p.Trp2473Arg) c.7342T>C (p.Trp2448Arg) c.7042T>C (p.Trp2348Arg) c.4306T>C (p.Trp1436Arg) c.3199T>C (p.Trp1067Arg) n.1830+5606A>G c.7225T>C (p.Trp2409Arg) c.2977T>C (p.Trp993Arg) c.6205T>C (p.Trp2069Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99776872T>G | CA371875736 | VPS13B | c.7420T>G (p.Trp2474Gly) n.7490T>G c.*3102T>G (n.*3102T>G) c.7345T>G (p.Trp2449Gly) n.378-1810T>G c.7417T>G (p.Trp2473Gly) c.7342T>G (p.Trp2448Gly) c.7042T>G (p.Trp2348Gly) c.4306T>G (p.Trp1436Gly) c.3199T>G (p.Trp1067Gly) n.1830+5606A>C c.7225T>G (p.Trp2409Gly) c.2977T>G (p.Trp993Gly) c.6205T>G (p.Trp2069Gly) | |
| 8 | g.99776873G>A | CA371875739 | VPS13B | c.7421G>A (p.Trp2474Ter) n.7491G>A c.*3103G>A (n.*3103G>A) c.7346G>A (p.Trp2449Ter) n.378-1809G>A c.7418G>A (p.Trp2473Ter) c.7343G>A (p.Trp2448Ter) c.7043G>A (p.Trp2348Ter) c.4307G>A (p.Trp1436Ter) c.3200G>A (p.Trp1067Ter) n.1830+5605C>T c.7226G>A (p.Trp2409Ter) c.2978G>A (p.Trp993Ter) c.6206G>A (p.Trp2069Ter) | |
| 8 | g.99776873G>C | CA371875738 | VPS13B | c.7421G>C (p.Trp2474Ser) n.7491G>C c.*3103G>C (n.*3103G>C) c.7346G>C (p.Trp2449Ser) n.378-1809G>C c.7418G>C (p.Trp2473Ser) c.7343G>C (p.Trp2448Ser) c.7043G>C (p.Trp2348Ser) c.4307G>C (p.Trp1436Ser) c.3200G>C (p.Trp1067Ser) n.1830+5605C>G c.7226G>C (p.Trp2409Ser) c.2978G>C (p.Trp993Ser) c.6206G>C (p.Trp2069Ser) | |
| 8 | g.99776873G>T | CA371875737 | VPS13B | c.7421G>T (p.Trp2474Leu) n.7491G>T c.*3103G>T (n.*3103G>T) c.7346G>T (p.Trp2449Leu) n.378-1809G>T c.7418G>T (p.Trp2473Leu) c.7343G>T (p.Trp2448Leu) c.7043G>T (p.Trp2348Leu) c.4307G>T (p.Trp1436Leu) c.3200G>T (p.Trp1067Leu) n.1830+5605C>A c.7226G>T (p.Trp2409Leu) c.2978G>T (p.Trp993Leu) c.6206G>T (p.Trp2069Leu) | COSMIC COSMIC |
| 8 | g.99776874G>A | CA371875740 | VPS13B | c.7422G>A (p.Trp2474Ter) n.7492G>A c.*3104G>A (n.*3104G>A) c.7347G>A (p.Trp2449Ter) n.378-1808G>A c.7419G>A (p.Trp2473Ter) c.7344G>A (p.Trp2448Ter) c.7044G>A (p.Trp2348Ter) c.4308G>A (p.Trp1436Ter) c.3201G>A (p.Trp1067Ter) n.1830+5604C>T c.7227G>A (p.Trp2409Ter) c.2979G>A (p.Trp993Ter) c.6207G>A (p.Trp2069Ter) | |
| 8 | g.99776874G>C | CA371875742 | VPS13B | c.7422G>C (p.Trp2474Cys) n.7492G>C c.*3104G>C (n.*3104G>C) c.7347G>C (p.Trp2449Cys) n.378-1808G>C c.7419G>C (p.Trp2473Cys) c.7344G>C (p.Trp2448Cys) c.7044G>C (p.Trp2348Cys) c.4308G>C (p.Trp1436Cys) c.3201G>C (p.Trp1067Cys) n.1830+5604C>G c.7227G>C (p.Trp2409Cys) c.2979G>C (p.Trp993Cys) c.6207G>C (p.Trp2069Cys) | |
| 8 | g.99776874G>T | CA371875741 | VPS13B | c.7422G>T (p.Trp2474Cys) n.7492G>T c.*3104G>T (n.*3104G>T) c.7347G>T (p.Trp2449Cys) n.378-1808G>T c.7419G>T (p.Trp2473Cys) c.7344G>T (p.Trp2448Cys) c.7044G>T (p.Trp2348Cys) c.4308G>T (p.Trp1436Cys) c.3201G>T (p.Trp1067Cys) n.1830+5604C>A c.7227G>T (p.Trp2409Cys) c.2979G>T (p.Trp993Cys) c.6207G>T (p.Trp2069Cys) | ClinVar |
| 8 | g.99776875T>A | CA371875743 | VPS13B | c.7423T>A (p.Phe2475Ile) n.7493T>A c.*3105T>A (n.*3105T>A) c.7348T>A (p.Phe2450Ile) n.378-1807T>A c.7420T>A (p.Phe2474Ile) c.7345T>A (p.Phe2449Ile) c.7045T>A (p.Phe2349Ile) c.4309T>A (p.Phe1437Ile) c.3202T>A (p.Phe1068Ile) n.1830+5603A>T c.7228T>A (p.Phe2410Ile) c.2980T>A (p.Phe994Ile) c.6208T>A (p.Phe2070Ile) | |
| 8 | g.99776875T>C | CA371875745 | VPS13B | c.7423T>C (p.Phe2475Leu) n.7493T>C c.*3105T>C (n.*3105T>C) c.7348T>C (p.Phe2450Leu) n.378-1807T>C c.7420T>C (p.Phe2474Leu) c.7345T>C (p.Phe2449Leu) c.7045T>C (p.Phe2349Leu) c.4309T>C (p.Phe1437Leu) c.3202T>C (p.Phe1068Leu) n.1830+5603A>G c.7228T>C (p.Phe2410Leu) c.2980T>C (p.Phe994Leu) c.6208T>C (p.Phe2070Leu) | COSMIC COSMIC |
| 8 | g.99776875T>G | CA371875744 | VPS13B | c.7423T>G (p.Phe2475Val) n.7493T>G c.*3105T>G (n.*3105T>G) c.7348T>G (p.Phe2450Val) n.378-1807T>G c.7420T>G (p.Phe2474Val) c.7345T>G (p.Phe2449Val) c.7045T>G (p.Phe2349Val) c.4309T>G (p.Phe1437Val) c.3202T>G (p.Phe1068Val) n.1830+5603A>C c.7228T>G (p.Phe2410Val) c.2980T>G (p.Phe994Val) c.6208T>G (p.Phe2070Val) | |
| 8 | g.99776876T>A | CA371875746 | VPS13B | c.7424T>A (p.Phe2475Tyr) n.7494T>A c.*3106T>A (n.*3106T>A) c.7349T>A (p.Phe2450Tyr) n.378-1806T>A c.7421T>A (p.Phe2474Tyr) c.7346T>A (p.Phe2449Tyr) c.7046T>A (p.Phe2349Tyr) c.4310T>A (p.Phe1437Tyr) c.3203T>A (p.Phe1068Tyr) n.1830+5602A>T c.7229T>A (p.Phe2410Tyr) c.2981T>A (p.Phe994Tyr) c.6209T>A (p.Phe2070Tyr) | |
| 8 | g.99776876T>C | CA371875747 | VPS13B | c.7424T>C (p.Phe2475Ser) n.7494T>C c.*3106T>C (n.*3106T>C) c.7349T>C (p.Phe2450Ser) n.378-1806T>C c.7421T>C (p.Phe2474Ser) c.7346T>C (p.Phe2449Ser) c.7046T>C (p.Phe2349Ser) c.4310T>C (p.Phe1437Ser) c.3203T>C (p.Phe1068Ser) n.1830+5602A>G c.7229T>C (p.Phe2410Ser) c.2981T>C (p.Phe994Ser) c.6209T>C (p.Phe2070Ser) | |
| 8 | g.99776876T>G | CA371875748 | VPS13B | c.7424T>G (p.Phe2475Cys) n.7494T>G c.*3106T>G (n.*3106T>G) c.7349T>G (p.Phe2450Cys) n.378-1806T>G c.7421T>G (p.Phe2474Cys) c.7346T>G (p.Phe2449Cys) c.7046T>G (p.Phe2349Cys) c.4310T>G (p.Phe1437Cys) c.3203T>G (p.Phe1068Cys) n.1830+5602A>C c.7229T>G (p.Phe2410Cys) c.2981T>G (p.Phe994Cys) c.6209T>G (p.Phe2070Cys) | |
| 8 | g.99776877T>A | CA371875749 | VPS13B | c.7425T>A (p.Phe2475Leu) n.7495T>A c.*3107T>A (n.*3107T>A) c.7350T>A (p.Phe2450Leu) n.378-1805T>A c.7422T>A (p.Phe2474Leu) c.7347T>A (p.Phe2449Leu) c.7047T>A (p.Phe2349Leu) c.4311T>A (p.Phe1437Leu) c.3204T>A (p.Phe1068Leu) n.1830+5601A>T c.7230T>A (p.Phe2410Leu) c.2982T>A (p.Phe994Leu) c.6210T>A (p.Phe2070Leu) | |
| 8 | g.99776877T>C | CA462449200 | VPS13B | c.7425T>C (p.Phe2475=) n.7495T>C c.*3107T>C (n.*3107T>C) c.7350T>C (p.Phe2450=) n.378-1805T>C c.7422T>C (p.Phe2474=) c.7347T>C (p.Phe2449=) c.7047T>C (p.Phe2349=) c.4311T>C (p.Phe1437=) c.3204T>C (p.Phe1068=) n.1830+5601A>G c.7230T>C (p.Phe2410=) c.2982T>C (p.Phe994=) c.6210T>C (p.Phe2070=) | |
| 8 | g.99776877T>G | CA371875750 | VPS13B | c.7425T>G (p.Phe2475Leu) n.7495T>G c.*3107T>G (n.*3107T>G) c.7350T>G (p.Phe2450Leu) n.378-1805T>G c.7422T>G (p.Phe2474Leu) c.7347T>G (p.Phe2449Leu) c.7047T>G (p.Phe2349Leu) c.4311T>G (p.Phe1437Leu) c.3204T>G (p.Phe1068Leu) n.1830+5601A>C c.7230T>G (p.Phe2410Leu) c.2982T>G (p.Phe994Leu) c.6210T>G (p.Phe2070Leu) | gnomAD v4 |
| 8 | g.99776878G>A | CA4824196 | VPS13B | c.7426G>A (p.Val2476Ile) n.7496G>A c.*3108G>A (n.*3108G>A) c.7351G>A (p.Val2451Ile) n.378-1804G>A c.7423G>A (p.Val2475Ile) c.7348G>A (p.Val2450Ile) c.7048G>A (p.Val2350Ile) c.4312G>A (p.Val1438Ile) c.3205G>A (p.Val1069Ile) n.1830+5600C>T c.7231G>A (p.Val2411Ile) c.2983G>A (p.Val995Ile) c.6211G>A (p.Val2071Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99776878G>C | CA371875751 | VPS13B | c.7426G>C (p.Val2476Leu) n.7496G>C c.*3108G>C (n.*3108G>C) c.7351G>C (p.Val2451Leu) n.378-1804G>C c.7423G>C (p.Val2475Leu) c.7348G>C (p.Val2450Leu) c.7048G>C (p.Val2350Leu) c.4312G>C (p.Val1438Leu) c.3205G>C (p.Val1069Leu) n.1830+5600C>G c.7231G>C (p.Val2411Leu) c.2983G>C (p.Val995Leu) c.6211G>C (p.Val2071Leu) | |
| 8 | g.99776878G>T | CA371875752 | VPS13B | c.7426G>T (p.Val2476Phe) n.7496G>T c.*3108G>T (n.*3108G>T) c.7351G>T (p.Val2451Phe) n.378-1804G>T c.7423G>T (p.Val2475Phe) c.7348G>T (p.Val2450Phe) c.7048G>T (p.Val2350Phe) c.4312G>T (p.Val1438Phe) c.3205G>T (p.Val1069Phe) n.1830+5600C>A c.7231G>T (p.Val2411Phe) c.2983G>T (p.Val995Phe) c.6211G>T (p.Val2071Phe) | |
| 8 | g.99776879T>A | CA371875753 | VPS13B | c.7427T>A (p.Val2476Asp) n.7497T>A c.*3109T>A (n.*3109T>A) c.7352T>A (p.Val2451Asp) n.378-1803T>A c.7424T>A (p.Val2475Asp) c.7349T>A (p.Val2450Asp) c.7049T>A (p.Val2350Asp) c.4313T>A (p.Val1438Asp) c.3206T>A (p.Val1069Asp) n.1830+5599A>T c.7232T>A (p.Val2411Asp) c.2984T>A (p.Val995Asp) c.6212T>A (p.Val2071Asp) | |
| 8 | g.99776879T>C | CA371875754 | VPS13B | c.7427T>C (p.Val2476Ala) n.7497T>C c.*3109T>C (n.*3109T>C) c.7352T>C (p.Val2451Ala) n.378-1803T>C c.7424T>C (p.Val2475Ala) c.7349T>C (p.Val2450Ala) c.7049T>C (p.Val2350Ala) c.4313T>C (p.Val1438Ala) c.3206T>C (p.Val1069Ala) n.1830+5599A>G c.7232T>C (p.Val2411Ala) c.2984T>C (p.Val995Ala) c.6212T>C (p.Val2071Ala) | |
| 8 | g.99776879T>G | CA371875755 | VPS13B | c.7427T>G (p.Val2476Gly) n.7497T>G c.*3109T>G (n.*3109T>G) c.7352T>G (p.Val2451Gly) n.378-1803T>G c.7424T>G (p.Val2475Gly) c.7349T>G (p.Val2450Gly) c.7049T>G (p.Val2350Gly) c.4313T>G (p.Val1438Gly) c.3206T>G (p.Val1069Gly) n.1830+5599A>C c.7232T>G (p.Val2411Gly) c.2984T>G (p.Val995Gly) c.6212T>G (p.Val2071Gly) | |
| 8 | g.99776880C>A | CA462449201 | VPS13B | c.7428C>A (p.Val2476=) n.7498C>A c.*3110C>A (n.*3110C>A) c.7353C>A (p.Val2451=) n.378-1802C>A c.7425C>A (p.Val2475=) c.7350C>A (p.Val2450=) c.7050C>A (p.Val2350=) c.4314C>A (p.Val1438=) c.3207C>A (p.Val1069=) n.1830+5598G>T c.7233C>A (p.Val2411=) c.2985C>A (p.Val995=) c.6213C>A (p.Val2071=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99776880C>G | CA462449202 | VPS13B | c.7428C>G (p.Val2476=) n.7498C>G c.*3110C>G (n.*3110C>G) c.7353C>G (p.Val2451=) n.378-1802C>G c.7425C>G (p.Val2475=) c.7350C>G (p.Val2450=) c.7050C>G (p.Val2350=) c.4314C>G (p.Val1438=) c.3207C>G (p.Val1069=) n.1830+5598G>C c.7233C>G (p.Val2411=) c.2985C>G (p.Val995=) c.6213C>G (p.Val2071=) | |
| 8 | g.99776880C>T | CA462449203 | VPS13B | c.7428C>T (p.Val2476=) n.7498C>T c.*3110C>T (n.*3110C>T) c.7353C>T (p.Val2451=) n.378-1802C>T c.7425C>T (p.Val2475=) c.7350C>T (p.Val2450=) c.7050C>T (p.Val2350=) c.4314C>T (p.Val1438=) c.3207C>T (p.Val1069=) n.1830+5598G>A c.7233C>T (p.Val2411=) c.2985C>T (p.Val995=) c.6213C>T (p.Val2071=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99776881C>A | CA371875756 | VPS13B | c.7429C>A (p.Pro2477Thr) n.7499C>A c.*3111C>A (n.*3111C>A) c.7354C>A (p.Pro2452Thr) n.378-1801C>A c.7426C>A (p.Pro2476Thr) c.7351C>A (p.Pro2451Thr) c.7051C>A (p.Pro2351Thr) c.4315C>A (p.Pro1439Thr) c.3208C>A (p.Pro1070Thr) n.1830+5597G>T c.7234C>A (p.Pro2412Thr) c.2986C>A (p.Pro996Thr) c.6214C>A (p.Pro2072Thr) | |
| 8 | g.99776881C>G | CA371875758 | VPS13B | c.7429C>G (p.Pro2477Ala) n.7499C>G c.*3111C>G (n.*3111C>G) c.7354C>G (p.Pro2452Ala) n.378-1801C>G c.7426C>G (p.Pro2476Ala) c.7351C>G (p.Pro2451Ala) c.7051C>G (p.Pro2351Ala) c.4315C>G (p.Pro1439Ala) c.3208C>G (p.Pro1070Ala) n.1830+5597G>C c.7234C>G (p.Pro2412Ala) c.2986C>G (p.Pro996Ala) c.6214C>G (p.Pro2072Ala) | |
| 8 | g.99776881C>T | CA371875757 | VPS13B | c.7429C>T (p.Pro2477Ser) n.7499C>T c.*3111C>T (n.*3111C>T) c.7354C>T (p.Pro2452Ser) n.378-1801C>T c.7426C>T (p.Pro2476Ser) c.7351C>T (p.Pro2451Ser) c.7051C>T (p.Pro2351Ser) c.4315C>T (p.Pro1439Ser) c.3208C>T (p.Pro1070Ser) n.1830+5597G>A c.7234C>T (p.Pro2412Ser) c.2986C>T (p.Pro996Ser) c.6214C>T (p.Pro2072Ser) | |
| 8 | g.99776882C>A | CA371875759 | VPS13B | c.7430C>A (p.Pro2477Gln) n.7500C>A c.*3112C>A (n.*3112C>A) c.7355C>A (p.Pro2452Gln) n.378-1800C>A c.7427C>A (p.Pro2476Gln) c.7352C>A (p.Pro2451Gln) c.7052C>A (p.Pro2351Gln) c.4316C>A (p.Pro1439Gln) c.3209C>A (p.Pro1070Gln) n.1830+5596G>T c.7235C>A (p.Pro2412Gln) c.2987C>A (p.Pro996Gln) c.6215C>A (p.Pro2072Gln) | |
| 8 | g.99776882C>G | CA371875760 | VPS13B | c.7430C>G (p.Pro2477Arg) n.7500C>G c.*3112C>G (n.*3112C>G) c.7355C>G (p.Pro2452Arg) n.378-1800C>G c.7427C>G (p.Pro2476Arg) c.7352C>G (p.Pro2451Arg) c.7052C>G (p.Pro2351Arg) c.4316C>G (p.Pro1439Arg) c.3209C>G (p.Pro1070Arg) n.1830+5596G>C c.7235C>G (p.Pro2412Arg) c.2987C>G (p.Pro996Arg) c.6215C>G (p.Pro2072Arg) | |
| 8 | g.99776882C>T | CA371875761 | VPS13B | c.7430C>T (p.Pro2477Leu) n.7500C>T c.*3112C>T (n.*3112C>T) c.7355C>T (p.Pro2452Leu) n.378-1800C>T c.7427C>T (p.Pro2476Leu) c.7352C>T (p.Pro2451Leu) c.7052C>T (p.Pro2351Leu) c.4316C>T (p.Pro1439Leu) c.3209C>T (p.Pro1070Leu) n.1830+5596G>A c.7235C>T (p.Pro2412Leu) c.2987C>T (p.Pro996Leu) c.6215C>T (p.Pro2072Leu) | dbSNP gnomAD v4 |
| 8 | g.99776883A>C | CA462449206 | VPS13B | c.7431A>C (p.Pro2477=) n.7501A>C c.*3113A>C (n.*3113A>C) c.7356A>C (p.Pro2452=) n.378-1799A>C c.7428A>C (p.Pro2476=) c.7353A>C (p.Pro2451=) c.7053A>C (p.Pro2351=) c.4317A>C (p.Pro1439=) c.3210A>C (p.Pro1070=) n.1830+5595T>G c.7236A>C (p.Pro2412=) c.2988A>C (p.Pro996=) c.6216A>C (p.Pro2072=) | |
| 8 | g.99776883A>G | CA462449205 | VPS13B | c.7431A>G (p.Pro2477=) n.7501A>G c.*3113A>G (n.*3113A>G) c.7356A>G (p.Pro2452=) n.378-1799A>G c.7428A>G (p.Pro2476=) c.7353A>G (p.Pro2451=) c.7053A>G (p.Pro2351=) c.4317A>G (p.Pro1439=) c.3210A>G (p.Pro1070=) n.1830+5595T>C c.7236A>G (p.Pro2412=) c.2988A>G (p.Pro996=) c.6216A>G (p.Pro2072=) | |
| 8 | g.99776883A>T | CA462449204 | VPS13B | c.7431A>T (p.Pro2477=) n.7501A>T c.*3113A>T (n.*3113A>T) c.7356A>T (p.Pro2452=) n.378-1799A>T c.7428A>T (p.Pro2476=) c.7353A>T (p.Pro2451=) c.7053A>T (p.Pro2351=) c.4317A>T (p.Pro1439=) c.3210A>T (p.Pro1070=) n.1830+5595T>A c.7236A>T (p.Pro2412=) c.2988A>T (p.Pro996=) c.6216A>T (p.Pro2072=) | |
| 8 | g.99776884T>A | CA371875762 | VPS13B | c.7432T>A (p.Ser2478Thr) n.7502T>A c.*3114T>A (n.*3114T>A) c.7357T>A (p.Ser2453Thr) n.378-1798T>A c.7429T>A (p.Ser2477Thr) c.7354T>A (p.Ser2452Thr) c.7054T>A (p.Ser2352Thr) c.4318T>A (p.Ser1440Thr) c.3211T>A (p.Ser1071Thr) n.1830+5594A>T c.7237T>A (p.Ser2413Thr) c.2989T>A (p.Ser997Thr) c.6217T>A (p.Ser2073Thr) | |
| 8 | g.99776884T>C | CA371875763 | VPS13B | c.7432T>C (p.Ser2478Pro) n.7502T>C c.*3114T>C (n.*3114T>C) c.7357T>C (p.Ser2453Pro) n.378-1798T>C c.7429T>C (p.Ser2477Pro) c.7354T>C (p.Ser2452Pro) c.7054T>C (p.Ser2352Pro) c.4318T>C (p.Ser1440Pro) c.3211T>C (p.Ser1071Pro) n.1830+5594A>G c.7237T>C (p.Ser2413Pro) c.2989T>C (p.Ser997Pro) c.6217T>C (p.Ser2073Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99776884T>G | CA371875764 | VPS13B | c.7432T>G (p.Ser2478Ala) n.7502T>G c.*3114T>G (n.*3114T>G) c.7357T>G (p.Ser2453Ala) n.378-1798T>G c.7429T>G (p.Ser2477Ala) c.7354T>G (p.Ser2452Ala) c.7054T>G (p.Ser2352Ala) c.4318T>G (p.Ser1440Ala) c.3211T>G (p.Ser1071Ala) n.1830+5594A>C c.7237T>G (p.Ser2413Ala) c.2989T>G (p.Ser997Ala) c.6217T>G (p.Ser2073Ala) | |
| 8 | g.99776885C>A | CA371875765 | VPS13B | c.7433C>A (p.Ser2478Tyr) n.7503C>A c.*3115C>A (n.*3115C>A) c.7358C>A (p.Ser2453Tyr) n.378-1797C>A c.7430C>A (p.Ser2477Tyr) c.7355C>A (p.Ser2452Tyr) c.7055C>A (p.Ser2352Tyr) c.4319C>A (p.Ser1440Tyr) c.3212C>A (p.Ser1071Tyr) n.1830+5593G>T c.7238C>A (p.Ser2413Tyr) c.2990C>A (p.Ser997Tyr) c.6218C>A (p.Ser2073Tyr) | gnomAD v4 |