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.99776862C>A | CA371875714 | VPS13B | c.7410C>A (p.Cys2470Ter) n.7480C>A c.*3092C>A (n.*3092C>A) c.7335C>A (p.Cys2445Ter) n.378-1820C>A c.7407C>A (p.Cys2469Ter) c.7332C>A (p.Cys2444Ter) c.7032C>A (p.Cys2344Ter) c.4296C>A (p.Cys1432Ter) c.3189C>A (p.Cys1063Ter) n.1830+5616G>T c.7215C>A (p.Cys2405Ter) c.2967C>A (p.Cys989Ter) c.6195C>A (p.Cys2065Ter) | |
| 8 | g.99776862C>G | CA371875715 | VPS13B | c.7410C>G (p.Cys2470Trp) n.7480C>G c.*3092C>G (n.*3092C>G) c.7335C>G (p.Cys2445Trp) n.378-1820C>G c.7407C>G (p.Cys2469Trp) c.7332C>G (p.Cys2444Trp) c.7032C>G (p.Cys2344Trp) c.4296C>G (p.Cys1432Trp) c.3189C>G (p.Cys1063Trp) n.1830+5616G>C c.7215C>G (p.Cys2405Trp) c.2967C>G (p.Cys989Trp) c.6195C>G (p.Cys2065Trp) | |
| 8 | g.99776862C>T | CA462449194 | VPS13B | c.7410C>T (p.Cys2470=) n.7480C>T c.*3092C>T (n.*3092C>T) c.7335C>T (p.Cys2445=) n.378-1820C>T c.7407C>T (p.Cys2469=) c.7332C>T (p.Cys2444=) c.7032C>T (p.Cys2344=) c.4296C>T (p.Cys1432=) c.3189C>T (p.Cys1063=) n.1830+5616G>A c.7215C>T (p.Cys2405=) c.2967C>T (p.Cys989=) c.6195C>T (p.Cys2065=) | |
| 8 | g.99776863T>A | CA371875716 | VPS13B | c.7411T>A (p.Phe2471Ile) n.7481T>A c.*3093T>A (n.*3093T>A) c.7336T>A (p.Phe2446Ile) n.378-1819T>A c.7408T>A (p.Phe2470Ile) c.7333T>A (p.Phe2445Ile) c.7033T>A (p.Phe2345Ile) c.4297T>A (p.Phe1433Ile) c.3190T>A (p.Phe1064Ile) n.1830+5615A>T c.7216T>A (p.Phe2406Ile) c.2968T>A (p.Phe990Ile) c.6196T>A (p.Phe2066Ile) | |
| 8 | g.99776863T>C | CA371875717 | VPS13B | c.7411T>C (p.Phe2471Leu) n.7481T>C c.*3093T>C (n.*3093T>C) c.7336T>C (p.Phe2446Leu) n.378-1819T>C c.7408T>C (p.Phe2470Leu) c.7333T>C (p.Phe2445Leu) c.7033T>C (p.Phe2345Leu) c.4297T>C (p.Phe1433Leu) c.3190T>C (p.Phe1064Leu) n.1830+5615A>G c.7216T>C (p.Phe2406Leu) c.2968T>C (p.Phe990Leu) c.6196T>C (p.Phe2066Leu) | |
| 8 | g.99776863T>G | CA371875718 | VPS13B | c.7411T>G (p.Phe2471Val) n.7481T>G c.*3093T>G (n.*3093T>G) c.7336T>G (p.Phe2446Val) n.378-1819T>G c.7408T>G (p.Phe2470Val) c.7333T>G (p.Phe2445Val) c.7033T>G (p.Phe2345Val) c.4297T>G (p.Phe1433Val) c.3190T>G (p.Phe1064Val) n.1830+5615A>C c.7216T>G (p.Phe2406Val) c.2968T>G (p.Phe990Val) c.6196T>G (p.Phe2066Val) | |
| 8 | g.99776864T>A | CA371875721 | VPS13B | c.7412T>A (p.Phe2471Tyr) n.7482T>A c.*3094T>A (n.*3094T>A) c.7337T>A (p.Phe2446Tyr) n.378-1818T>A c.7409T>A (p.Phe2470Tyr) c.7334T>A (p.Phe2445Tyr) c.7034T>A (p.Phe2345Tyr) c.4298T>A (p.Phe1433Tyr) c.3191T>A (p.Phe1064Tyr) n.1830+5614A>T c.7217T>A (p.Phe2406Tyr) c.2969T>A (p.Phe990Tyr) c.6197T>A (p.Phe2066Tyr) | |
| 8 | g.99776864T>C | CA371875720 | VPS13B | c.7412T>C (p.Phe2471Ser) n.7482T>C c.*3094T>C (n.*3094T>C) c.7337T>C (p.Phe2446Ser) n.378-1818T>C c.7409T>C (p.Phe2470Ser) c.7334T>C (p.Phe2445Ser) c.7034T>C (p.Phe2345Ser) c.4298T>C (p.Phe1433Ser) c.3191T>C (p.Phe1064Ser) n.1830+5614A>G c.7217T>C (p.Phe2406Ser) c.2969T>C (p.Phe990Ser) c.6197T>C (p.Phe2066Ser) | |
| 8 | g.99776864T>G | CA371875719 | VPS13B | c.7412T>G (p.Phe2471Cys) n.7482T>G c.*3094T>G (n.*3094T>G) c.7337T>G (p.Phe2446Cys) n.378-1818T>G c.7409T>G (p.Phe2470Cys) c.7334T>G (p.Phe2445Cys) c.7034T>G (p.Phe2345Cys) c.4298T>G (p.Phe1433Cys) c.3191T>G (p.Phe1064Cys) n.1830+5614A>C c.7217T>G (p.Phe2406Cys) c.2969T>G (p.Phe990Cys) c.6197T>G (p.Phe2066Cys) | |
| 8 | g.99776865T>A | CA371875722 | VPS13B | c.7413T>A (p.Phe2471Leu) n.7483T>A c.*3095T>A (n.*3095T>A) c.7338T>A (p.Phe2446Leu) n.378-1817T>A c.7410T>A (p.Phe2470Leu) c.7335T>A (p.Phe2445Leu) c.7035T>A (p.Phe2345Leu) c.4299T>A (p.Phe1433Leu) c.3192T>A (p.Phe1064Leu) n.1830+5613A>T c.7218T>A (p.Phe2406Leu) c.2970T>A (p.Phe990Leu) c.6198T>A (p.Phe2066Leu) | |
| 8 | g.99776865T>C | CA202890 | VPS13B | c.7413T>C (p.Phe2471=) n.7483T>C c.*3095T>C (n.*3095T>C) c.7338T>C (p.Phe2446=) n.378-1817T>C c.7410T>C (p.Phe2470=) c.7335T>C (p.Phe2445=) c.7035T>C (p.Phe2345=) c.4299T>C (p.Phe1433=) c.3192T>C (p.Phe1064=) n.1830+5613A>G c.7218T>C (p.Phe2406=) c.2970T>C (p.Phe990=) c.6198T>C (p.Phe2066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99776865T>G | CA371875723 | VPS13B | c.7413T>G (p.Phe2471Leu) n.7483T>G c.*3095T>G (n.*3095T>G) c.7338T>G (p.Phe2446Leu) n.378-1817T>G c.7410T>G (p.Phe2470Leu) c.7335T>G (p.Phe2445Leu) c.7035T>G (p.Phe2345Leu) c.4299T>G (p.Phe1433Leu) c.3192T>G (p.Phe1064Leu) n.1830+5613A>C c.7218T>G (p.Phe2406Leu) c.2970T>G (p.Phe990Leu) c.6198T>G (p.Phe2066Leu) | |
| 8 | g.99776866A>C | CA371875724 | VPS13B | c.7414A>C (p.Thr2472Pro) n.7484A>C c.*3096A>C (n.*3096A>C) c.7339A>C (p.Thr2447Pro) n.378-1816A>C c.7411A>C (p.Thr2471Pro) c.7336A>C (p.Thr2446Pro) c.7036A>C (p.Thr2346Pro) c.4300A>C (p.Thr1434Pro) c.3193A>C (p.Thr1065Pro) n.1830+5612T>G c.7219A>C (p.Thr2407Pro) c.2971A>C (p.Thr991Pro) c.6199A>C (p.Thr2067Pro) | |
| 8 | g.99776866A>G | CA371875725 | VPS13B | c.7414A>G (p.Thr2472Ala) n.7484A>G c.*3096A>G (n.*3096A>G) c.7339A>G (p.Thr2447Ala) n.378-1816A>G c.7411A>G (p.Thr2471Ala) c.7336A>G (p.Thr2446Ala) c.7036A>G (p.Thr2346Ala) c.4300A>G (p.Thr1434Ala) c.3193A>G (p.Thr1065Ala) n.1830+5612T>C c.7219A>G (p.Thr2407Ala) c.2971A>G (p.Thr991Ala) c.6199A>G (p.Thr2067Ala) | |
| 8 | g.99776866A>T | CA371875726 | VPS13B | c.7414A>T (p.Thr2472Ser) n.7484A>T c.*3096A>T (n.*3096A>T) c.7339A>T (p.Thr2447Ser) n.378-1816A>T c.7411A>T (p.Thr2471Ser) c.7336A>T (p.Thr2446Ser) c.7036A>T (p.Thr2346Ser) c.4300A>T (p.Thr1434Ser) c.3193A>T (p.Thr1065Ser) n.1830+5612T>A c.7219A>T (p.Thr2407Ser) c.2971A>T (p.Thr991Ser) c.6199A>T (p.Thr2067Ser) | |
| 8 | g.99776867C>A | CA4824194 | VPS13B | c.7415C>A (p.Thr2472Asn) n.7485C>A c.*3097C>A (n.*3097C>A) c.7340C>A (p.Thr2447Asn) n.378-1815C>A c.7412C>A (p.Thr2471Asn) c.7337C>A (p.Thr2446Asn) c.7037C>A (p.Thr2346Asn) c.4301C>A (p.Thr1434Asn) c.3194C>A (p.Thr1065Asn) n.1830+5611G>T c.7220C>A (p.Thr2407Asn) c.2972C>A (p.Thr991Asn) c.6200C>A (p.Thr2067Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99776867C>G | CA371875728 | VPS13B | c.7415C>G (p.Thr2472Ser) n.7485C>G c.*3097C>G (n.*3097C>G) c.7340C>G (p.Thr2447Ser) n.378-1815C>G c.7412C>G (p.Thr2471Ser) c.7337C>G (p.Thr2446Ser) c.7037C>G (p.Thr2346Ser) c.4301C>G (p.Thr1434Ser) c.3194C>G (p.Thr1065Ser) n.1830+5611G>C c.7220C>G (p.Thr2407Ser) c.2972C>G (p.Thr991Ser) c.6200C>G (p.Thr2067Ser) | |
| 8 | g.99776867C>T | CA371875727 | VPS13B | c.7415C>T (p.Thr2472Ile) n.7485C>T c.*3097C>T (n.*3097C>T) c.7340C>T (p.Thr2447Ile) n.378-1815C>T c.7412C>T (p.Thr2471Ile) c.7337C>T (p.Thr2446Ile) c.7037C>T (p.Thr2346Ile) c.4301C>T (p.Thr1434Ile) c.3194C>T (p.Thr1065Ile) n.1830+5611G>A c.7220C>T (p.Thr2407Ile) c.2972C>T (p.Thr991Ile) c.6200C>T (p.Thr2067Ile) | |
| 8 | g.99776868C>A | CA462449195 | VPS13B | c.7416C>A (p.Thr2472=) n.7486C>A c.*3098C>A (n.*3098C>A) c.7341C>A (p.Thr2447=) n.378-1814C>A c.7413C>A (p.Thr2471=) c.7338C>A (p.Thr2446=) c.7038C>A (p.Thr2346=) c.4302C>A (p.Thr1434=) c.3195C>A (p.Thr1065=) n.1830+5610G>T c.7221C>A (p.Thr2407=) c.2973C>A (p.Thr991=) c.6201C>A (p.Thr2067=) | |
| 8 | g.99776868C>G | CA462449196 | VPS13B | c.7416C>G (p.Thr2472=) n.7486C>G c.*3098C>G (n.*3098C>G) c.7341C>G (p.Thr2447=) n.378-1814C>G c.7413C>G (p.Thr2471=) c.7338C>G (p.Thr2446=) c.7038C>G (p.Thr2346=) c.4302C>G (p.Thr1434=) c.3195C>G (p.Thr1065=) n.1830+5610G>C c.7221C>G (p.Thr2407=) c.2973C>G (p.Thr991=) c.6201C>G (p.Thr2067=) | |
| 8 | g.99776868C>T | CA462449197 | VPS13B | c.7416C>T (p.Thr2472=) n.7486C>T c.*3098C>T (n.*3098C>T) c.7341C>T (p.Thr2447=) n.378-1814C>T c.7413C>T (p.Thr2471=) c.7338C>T (p.Thr2446=) c.7038C>T (p.Thr2346=) c.4302C>T (p.Thr1434=) c.3195C>T (p.Thr1065=) n.1830+5610G>A c.7221C>T (p.Thr2407=) c.2973C>T (p.Thr991=) c.6201C>T (p.Thr2067=) | gnomAD v4 COSMIC COSMIC |
| 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 |