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.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 |
| 8 | g.99776885C>G | CA371875766 | VPS13B | c.7433C>G (p.Ser2478Cys) n.7503C>G c.*3115C>G (n.*3115C>G) c.7358C>G (p.Ser2453Cys) n.378-1797C>G c.7430C>G (p.Ser2477Cys) c.7355C>G (p.Ser2452Cys) c.7055C>G (p.Ser2352Cys) c.4319C>G (p.Ser1440Cys) c.3212C>G (p.Ser1071Cys) n.1830+5593G>C c.7238C>G (p.Ser2413Cys) c.2990C>G (p.Ser997Cys) c.6218C>G (p.Ser2073Cys) | |
| 8 | g.99776885C>T | CA371875767 | VPS13B | c.7433C>T (p.Ser2478Phe) n.7503C>T c.*3115C>T (n.*3115C>T) c.7358C>T (p.Ser2453Phe) n.378-1797C>T c.7430C>T (p.Ser2477Phe) c.7355C>T (p.Ser2452Phe) c.7055C>T (p.Ser2352Phe) c.4319C>T (p.Ser1440Phe) c.3212C>T (p.Ser1071Phe) n.1830+5593G>A c.7238C>T (p.Ser2413Phe) c.2990C>T (p.Ser997Phe) c.6218C>T (p.Ser2073Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99776886C>A | CA462449207 | VPS13B | c.7434C>A (p.Ser2478=) n.7504C>A c.*3116C>A (n.*3116C>A) c.7359C>A (p.Ser2453=) n.378-1796C>A c.7431C>A (p.Ser2477=) c.7356C>A (p.Ser2452=) c.7056C>A (p.Ser2352=) c.4320C>A (p.Ser1440=) c.3213C>A (p.Ser1071=) n.1830+5592G>T c.7239C>A (p.Ser2413=) c.2991C>A (p.Ser997=) c.6219C>A (p.Ser2073=) | |
| 8 | g.99776886C>G | CA462449208 | VPS13B | c.7434C>G (p.Ser2478=) n.7504C>G c.*3116C>G (n.*3116C>G) c.7359C>G (p.Ser2453=) n.378-1796C>G c.7431C>G (p.Ser2477=) c.7356C>G (p.Ser2452=) c.7056C>G (p.Ser2352=) c.4320C>G (p.Ser1440=) c.3213C>G (p.Ser1071=) n.1830+5592G>C c.7239C>G (p.Ser2413=) c.2991C>G (p.Ser997=) c.6219C>G (p.Ser2073=) | |
| 8 | g.99776886C>T | CA462449209 | VPS13B | c.7434C>T (p.Ser2478=) n.7504C>T c.*3116C>T (n.*3116C>T) c.7359C>T (p.Ser2453=) n.378-1796C>T c.7431C>T (p.Ser2477=) c.7356C>T (p.Ser2452=) c.7056C>T (p.Ser2352=) c.4320C>T (p.Ser1440=) c.3213C>T (p.Ser1071=) n.1830+5592G>A c.7239C>T (p.Ser2413=) c.2991C>T (p.Ser997=) c.6219C>T (p.Ser2073=) | |
| 8 | g.99776887C>A | CA371875769 | VPS13B | c.7435C>A (p.Leu2479Ile) n.7505C>A c.*3117C>A (n.*3117C>A) c.7360C>A (p.Leu2454Ile) n.378-1795C>A c.7432C>A (p.Leu2478Ile) c.7357C>A (p.Leu2453Ile) c.7057C>A (p.Leu2353Ile) c.4321C>A (p.Leu1441Ile) c.3214C>A (p.Leu1072Ile) n.1830+5591G>T c.7240C>A (p.Leu2414Ile) c.2992C>A (p.Leu998Ile) c.6220C>A (p.Leu2074Ile) | |
| 8 | g.99776887C>G | CA371875770 | VPS13B | c.7435C>G (p.Leu2479Val) n.7505C>G c.*3117C>G (n.*3117C>G) c.7360C>G (p.Leu2454Val) n.378-1795C>G c.7432C>G (p.Leu2478Val) c.7357C>G (p.Leu2453Val) c.7057C>G (p.Leu2353Val) c.4321C>G (p.Leu1441Val) c.3214C>G (p.Leu1072Val) n.1830+5591G>C c.7240C>G (p.Leu2414Val) c.2992C>G (p.Leu998Val) c.6220C>G (p.Leu2074Val) | |
| 8 | g.99776887C>T | CA371875768 | VPS13B | c.7435C>T (p.Leu2479Phe) n.7505C>T c.*3117C>T (n.*3117C>T) c.7360C>T (p.Leu2454Phe) n.378-1795C>T c.7432C>T (p.Leu2478Phe) c.7357C>T (p.Leu2453Phe) c.7057C>T (p.Leu2353Phe) c.4321C>T (p.Leu1441Phe) c.3214C>T (p.Leu1072Phe) n.1830+5591G>A c.7240C>T (p.Leu2414Phe) c.2992C>T (p.Leu998Phe) c.6220C>T (p.Leu2074Phe) | |
| 8 | g.99776888T>A | CA371875771 | VPS13B | c.7436T>A (p.Leu2479His) n.7506T>A c.*3118T>A (n.*3118T>A) c.7361T>A (p.Leu2454His) n.378-1794T>A c.7433T>A (p.Leu2478His) c.7358T>A (p.Leu2453His) c.7058T>A (p.Leu2353His) c.4322T>A (p.Leu1441His) c.3215T>A (p.Leu1072His) n.1830+5590A>T c.7241T>A (p.Leu2414His) c.2993T>A (p.Leu998His) c.6221T>A (p.Leu2074His) | |
| 8 | g.99776888T>C | CA371875772 | VPS13B | c.7436T>C (p.Leu2479Pro) n.7506T>C c.*3118T>C (n.*3118T>C) c.7361T>C (p.Leu2454Pro) n.378-1794T>C c.7433T>C (p.Leu2478Pro) c.7358T>C (p.Leu2453Pro) c.7058T>C (p.Leu2353Pro) c.4322T>C (p.Leu1441Pro) c.3215T>C (p.Leu1072Pro) n.1830+5590A>G c.7241T>C (p.Leu2414Pro) c.2993T>C (p.Leu998Pro) c.6221T>C (p.Leu2074Pro) | |
| 8 | g.99776888T>G | CA371875773 | VPS13B | c.7436T>G (p.Leu2479Arg) n.7506T>G c.*3118T>G (n.*3118T>G) c.7361T>G (p.Leu2454Arg) n.378-1794T>G c.7433T>G (p.Leu2478Arg) c.7358T>G (p.Leu2453Arg) c.7058T>G (p.Leu2353Arg) c.4322T>G (p.Leu1441Arg) c.3215T>G (p.Leu1072Arg) n.1830+5590A>C c.7241T>G (p.Leu2414Arg) c.2993T>G (p.Leu998Arg) c.6221T>G (p.Leu2074Arg) | |
| 8 | g.99776889T>A | CA462449210 | VPS13B | c.7437T>A (p.Leu2479=) n.7507T>A c.*3119T>A (n.*3119T>A) c.7362T>A (p.Leu2454=) n.378-1793T>A c.7434T>A (p.Leu2478=) c.7359T>A (p.Leu2453=) c.7059T>A (p.Leu2353=) c.4323T>A (p.Leu1441=) c.3216T>A (p.Leu1072=) n.1830+5589A>T c.7242T>A (p.Leu2414=) c.2994T>A (p.Leu998=) c.6222T>A (p.Leu2074=) | |
| 8 | g.99776889T>C | CA462449212 | VPS13B | c.7437T>C (p.Leu2479=) n.7507T>C c.*3119T>C (n.*3119T>C) c.7362T>C (p.Leu2454=) n.378-1793T>C c.7434T>C (p.Leu2478=) c.7359T>C (p.Leu2453=) c.7059T>C (p.Leu2353=) c.4323T>C (p.Leu1441=) c.3216T>C (p.Leu1072=) n.1830+5589A>G c.7242T>C (p.Leu2414=) c.2994T>C (p.Leu998=) c.6222T>C (p.Leu2074=) | ClinVar dbSNP |
| 8 | g.99776889T>G | CA462449211 | VPS13B | c.7437T>G (p.Leu2479=) n.7507T>G c.*3119T>G (n.*3119T>G) c.7362T>G (p.Leu2454=) n.378-1793T>G c.7434T>G (p.Leu2478=) c.7359T>G (p.Leu2453=) c.7059T>G (p.Leu2353=) c.4323T>G (p.Leu1441=) c.3216T>G (p.Leu1072=) n.1830+5589A>C c.7242T>G (p.Leu2414=) c.2994T>G (p.Leu998=) c.6222T>G (p.Leu2074=) | ClinVar |
| 8 | g.99776889_99776890insAG | CA2556541009 | VPS13B | c.7437_7438insAG (p.Cys2480SerfsTer21) n.7507_7508insAG c.*3119_*3120insAG (n.*3119_*3120insAG) c.7362_7363insAG (p.Cys2455SerfsTer21) n.378-1793_378-1792insAG c.7434_7435insAG (p.Cys2479SerfsTer21) c.7359_7360insAG (p.Cys2454SerfsTer21) c.7059_7060insAG (p.Cys2354SerfsTer21) c.4323_4324insAG (p.Cys1442SerfsTer21) c.3216_3217insAG (p.Cys1073SerfsTer21) n.1830+5588_1830+5589insCT c.7242_7243insAG (p.Cys2415SerfsTer21) c.2994_2995insAG (p.Cys999SerfsTer21) c.6222_6223insAG (p.Cys2075SerfsTer21) |