Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99769013_99776930delCA1139660679VPS13Bc.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
8g.99776870C>ACA371875732VPS13Bc.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)
8g.99776870C>GCA371875733VPS13Bc.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)
8g.99776870C>TCA371875734VPS13Bc.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
8g.99776871A>CCA462449198VPS13Bc.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=)
8g.99776871A>GCA4824195VPS13Bc.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
8g.99776871A>TCA462449199VPS13Bc.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
8g.99776872T>ACA371875735VPS13Bc.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)
8g.99776872T>CCA183041732VPS13Bc.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
8g.99776872T>GCA371875736VPS13Bc.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)
8g.99776873G>ACA371875739VPS13Bc.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)
8g.99776873G>CCA371875738VPS13Bc.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)
8g.99776873G>TCA371875737VPS13Bc.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
8g.99776874G>ACA371875740VPS13Bc.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)
8g.99776874G>CCA371875742VPS13Bc.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)
8g.99776874G>TCA371875741VPS13Bc.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
8g.99776875T>ACA371875743VPS13Bc.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)
8g.99776875T>CCA371875745VPS13Bc.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
8g.99776875T>GCA371875744VPS13Bc.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)
8g.99776876T>ACA371875746VPS13Bc.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)
8g.99776876T>CCA371875747VPS13Bc.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)
8g.99776876T>GCA371875748VPS13Bc.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)
8g.99776877T>ACA371875749VPS13Bc.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)
8g.99776877T>CCA462449200VPS13Bc.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=)
8g.99776877T>GCA371875750VPS13Bc.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
8g.99776878G>ACA4824196VPS13Bc.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
8g.99776878G>CCA371875751VPS13Bc.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)
8g.99776878G>TCA371875752VPS13Bc.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)
8g.99776879T>ACA371875753VPS13Bc.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)
8g.99776879T>CCA371875754VPS13Bc.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)
8g.99776879T>GCA371875755VPS13Bc.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)
8g.99776880C>ACA462449201VPS13Bc.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
8g.99776880C>GCA462449202VPS13Bc.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=)
8g.99776880C>TCA462449203VPS13Bc.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
8g.99776881C>ACA371875756VPS13Bc.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)
8g.99776881C>GCA371875758VPS13Bc.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)
8g.99776881C>TCA371875757VPS13Bc.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)
8g.99776882C>ACA371875759VPS13Bc.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)
8g.99776882C>GCA371875760VPS13Bc.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)
8g.99776882C>TCA371875761VPS13Bc.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
8g.99776883A>CCA462449206VPS13Bc.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=)
8g.99776883A>GCA462449205VPS13Bc.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=)
8g.99776883A>TCA462449204VPS13Bc.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=)
8g.99776884T>ACA371875762VPS13Bc.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)
8g.99776884T>CCA371875763VPS13Bc.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
8g.99776884T>GCA371875764VPS13Bc.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)
8g.99776885C>ACA371875765VPS13Bc.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
8g.99776885C>GCA371875766VPS13Bc.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)
8g.99776885C>TCA371875767VPS13Bc.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
8g.99776886C>ACA462449207VPS13Bc.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=)
8g.99776886C>GCA462449208VPS13Bc.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=)
8g.99776886C>TCA462449209VPS13Bc.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=)
8g.99776887C>ACA371875769VPS13Bc.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)
8g.99776887C>GCA371875770VPS13Bc.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)
8g.99776887C>TCA371875768VPS13Bc.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)
8g.99776888T>ACA371875771VPS13Bc.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)
8g.99776888T>CCA371875772VPS13Bc.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)
8g.99776888T>GCA371875773VPS13Bc.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)
8g.99776889T>ACA462449210VPS13Bc.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=)
8g.99776889T>CCA462449212VPS13Bc.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
8g.99776889T>GCA462449211VPS13Bc.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
8g.99776889_99776890insAGCA2556541009VPS13Bc.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)
8g.99776890T>ACA371875774VPS13Bc.7438T>A (p.Cys2480Ser)
n.7508T>A
c.*3120T>A (n.*3120T>A)
c.7363T>A (p.Cys2455Ser)
n.378-1792T>A
c.7435T>A (p.Cys2479Ser)
c.7360T>A (p.Cys2454Ser)
c.7060T>A (p.Cys2354Ser)
c.4324T>A (p.Cys1442Ser)
c.3217T>A (p.Cys1073Ser)
n.1830+5588A>T
c.7243T>A (p.Cys2415Ser)
c.2995T>A (p.Cys999Ser)
c.6223T>A (p.Cys2075Ser)
8g.99776890T>CCA371875775VPS13Bc.7438T>C (p.Cys2480Arg)
n.7508T>C
c.*3120T>C (n.*3120T>C)
c.7363T>C (p.Cys2455Arg)
n.378-1792T>C
c.7435T>C (p.Cys2479Arg)
c.7360T>C (p.Cys2454Arg)
c.7060T>C (p.Cys2354Arg)
c.4324T>C (p.Cys1442Arg)
c.3217T>C (p.Cys1073Arg)
n.1830+5588A>G
c.7243T>C (p.Cys2415Arg)
c.2995T>C (p.Cys999Arg)
c.6223T>C (p.Cys2075Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.99776890T>GCA371875776VPS13Bc.7438T>G (p.Cys2480Gly)
n.7508T>G
c.*3120T>G (n.*3120T>G)
c.7363T>G (p.Cys2455Gly)
n.378-1792T>G
c.7435T>G (p.Cys2479Gly)
c.7360T>G (p.Cys2454Gly)
c.7060T>G (p.Cys2354Gly)
c.4324T>G (p.Cys1442Gly)
c.3217T>G (p.Cys1073Gly)
n.1830+5588A>C
c.7243T>G (p.Cys2415Gly)
c.2995T>G (p.Cys999Gly)
c.6223T>G (p.Cys2075Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776891G>ACA371875777VPS13Bc.7439G>A (p.Cys2480Tyr)
n.7509G>A
c.*3121G>A (n.*3121G>A)
c.7364G>A (p.Cys2455Tyr)
n.378-1791G>A
c.7436G>A (p.Cys2479Tyr)
c.7361G>A (p.Cys2454Tyr)
c.7061G>A (p.Cys2354Tyr)
c.4325G>A (p.Cys1442Tyr)
c.3218G>A (p.Cys1073Tyr)
n.1830+5587C>T
c.7244G>A (p.Cys2415Tyr)
c.2996G>A (p.Cys999Tyr)
c.6224G>A (p.Cys2075Tyr)
8g.99776891G>CCA4824197VPS13Bc.7439G>C (p.Cys2480Ser)
n.7509G>C
c.*3121G>C (n.*3121G>C)
c.7364G>C (p.Cys2455Ser)
n.378-1791G>C
c.7436G>C (p.Cys2479Ser)
c.7361G>C (p.Cys2454Ser)
c.7061G>C (p.Cys2354Ser)
c.4325G>C (p.Cys1442Ser)
c.3218G>C (p.Cys1073Ser)
n.1830+5587C>G
c.7244G>C (p.Cys2415Ser)
c.2996G>C (p.Cys999Ser)
c.6224G>C (p.Cys2075Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776891G>TCA371875778VPS13Bc.7439G>T (p.Cys2480Phe)
n.7509G>T
c.*3121G>T (n.*3121G>T)
c.7364G>T (p.Cys2455Phe)
n.378-1791G>T
c.7436G>T (p.Cys2479Phe)
c.7361G>T (p.Cys2454Phe)
c.7061G>T (p.Cys2354Phe)
c.4325G>T (p.Cys1442Phe)
c.3218G>T (p.Cys1073Phe)
n.1830+5587C>A
c.7244G>T (p.Cys2415Phe)
c.2996G>T (p.Cys999Phe)
c.6224G>T (p.Cys2075Phe)
8g.99776892delCA1139660680VPS13Bc.7440del (p.Cys2480TrpfsTer20)
n.7510del
c.*3122del (n.*3122del)
c.7365del (p.Cys2455TrpfsTer20)
n.378-1790del
c.7437del (p.Cys2479TrpfsTer20)
c.7362del (p.Cys2454TrpfsTer20)
c.7062del (p.Cys2354TrpfsTer20)
c.4326del (p.Cys1442TrpfsTer20)
c.3219del (p.Cys1073TrpfsTer20)
n.1830+5586del
c.7245del (p.Cys2415TrpfsTer20)
c.2997del (p.Cys999TrpfsTer20)
c.6225del (p.Cys2075TrpfsTer20)
 ClinVar dbSNP
8g.99776892C>ACA371875779VPS13Bc.7440C>A (p.Cys2480Ter)
n.7510C>A
c.*3122C>A (n.*3122C>A)
c.7365C>A (p.Cys2455Ter)
n.378-1790C>A
c.7437C>A (p.Cys2479Ter)
c.7362C>A (p.Cys2454Ter)
c.7062C>A (p.Cys2354Ter)
c.4326C>A (p.Cys1442Ter)
c.3219C>A (p.Cys1073Ter)
n.1830+5586G>T
c.7245C>A (p.Cys2415Ter)
c.2997C>A (p.Cys999Ter)
c.6225C>A (p.Cys2075Ter)
8g.99776892C>GCA371875780VPS13Bc.7440C>G (p.Cys2480Trp)
n.7510C>G
c.*3122C>G (n.*3122C>G)
c.7365C>G (p.Cys2455Trp)
n.378-1790C>G
c.7437C>G (p.Cys2479Trp)
c.7362C>G (p.Cys2454Trp)
c.7062C>G (p.Cys2354Trp)
c.4326C>G (p.Cys1442Trp)
c.3219C>G (p.Cys1073Trp)
n.1830+5586G>C
c.7245C>G (p.Cys2415Trp)
c.2997C>G (p.Cys999Trp)
c.6225C>G (p.Cys2075Trp)
8g.99776892C>TCA4824198VPS13Bc.7440C>T (p.Cys2480=)
n.7510C>T
c.*3122C>T (n.*3122C>T)
c.7365C>T (p.Cys2455=)
n.378-1790C>T
c.7437C>T (p.Cys2479=)
c.7362C>T (p.Cys2454=)
c.7062C>T (p.Cys2354=)
c.4326C>T (p.Cys1442=)
c.3219C>T (p.Cys1073=)
n.1830+5586G>A
c.7245C>T (p.Cys2415=)
c.2997C>T (p.Cys999=)
c.6225C>T (p.Cys2075=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99776893G>ACA223484VPS13Bc.7441G>A (p.Val2481Ile)
n.7511G>A
c.*3123G>A (n.*3123G>A)
c.7366G>A (p.Val2456Ile)
n.378-1789G>A
c.7438G>A (p.Val2480Ile)
c.7363G>A (p.Val2455Ile)
c.7063G>A (p.Val2355Ile)
c.4327G>A (p.Val1443Ile)
c.3220G>A (p.Val1074Ile)
n.1830+5585C>T
c.7246G>A (p.Val2416Ile)
c.2998G>A (p.Val1000Ile)
c.6226G>A (p.Val2076Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776893G>CCA371875781VPS13Bc.7441G>C (p.Val2481Leu)
n.7511G>C
c.*3123G>C (n.*3123G>C)
c.7366G>C (p.Val2456Leu)
n.378-1789G>C
c.7438G>C (p.Val2480Leu)
c.7363G>C (p.Val2455Leu)
c.7063G>C (p.Val2355Leu)
c.4327G>C (p.Val1443Leu)
c.3220G>C (p.Val1074Leu)
n.1830+5585C>G
c.7246G>C (p.Val2416Leu)
c.2998G>C (p.Val1000Leu)
c.6226G>C (p.Val2076Leu)
8g.99776893G>TCA371875782VPS13Bc.7441G>T (p.Val2481Phe)
n.7511G>T
c.*3123G>T (n.*3123G>T)
c.7366G>T (p.Val2456Phe)
n.378-1789G>T
c.7438G>T (p.Val2480Phe)
c.7363G>T (p.Val2455Phe)
c.7063G>T (p.Val2355Phe)
c.4327G>T (p.Val1443Phe)
c.3220G>T (p.Val1074Phe)
n.1830+5585C>A
c.7246G>T (p.Val2416Phe)
c.2998G>T (p.Val1000Phe)
c.6226G>T (p.Val2076Phe)
8g.99776894T>ACA371875783VPS13Bc.7442T>A (p.Val2481Asp)
n.7512T>A
c.*3124T>A (n.*3124T>A)
c.7367T>A (p.Val2456Asp)
n.378-1788T>A
c.7439T>A (p.Val2480Asp)
c.7364T>A (p.Val2455Asp)
c.7064T>A (p.Val2355Asp)
c.4328T>A (p.Val1443Asp)
c.3221T>A (p.Val1074Asp)
n.1830+5584A>T
c.7247T>A (p.Val2416Asp)
c.2999T>A (p.Val1000Asp)
c.6227T>A (p.Val2076Asp)
8g.99776894T>CCA371875784VPS13Bc.7442T>C (p.Val2481Ala)
n.7512T>C
c.*3124T>C (n.*3124T>C)
c.7367T>C (p.Val2456Ala)
n.378-1788T>C
c.7439T>C (p.Val2480Ala)
c.7364T>C (p.Val2455Ala)
c.7064T>C (p.Val2355Ala)
c.4328T>C (p.Val1443Ala)
c.3221T>C (p.Val1074Ala)
n.1830+5584A>G
c.7247T>C (p.Val2416Ala)
c.2999T>C (p.Val1000Ala)
c.6227T>C (p.Val2076Ala)
 ClinVar dbSNP
8g.99776894T>GCA371875785VPS13Bc.7442T>G (p.Val2481Gly)
n.7512T>G
c.*3124T>G (n.*3124T>G)
c.7367T>G (p.Val2456Gly)
n.378-1788T>G
c.7439T>G (p.Val2480Gly)
c.7364T>G (p.Val2455Gly)
c.7064T>G (p.Val2355Gly)
c.4328T>G (p.Val1443Gly)
c.3221T>G (p.Val1074Gly)
n.1830+5584A>C
c.7247T>G (p.Val2416Gly)
c.2999T>G (p.Val1000Gly)
c.6227T>G (p.Val2076Gly)
8g.99776896delCA2688068077VPS13Bc.7444del (p.Ser2482LeufsTer18)
n.7514del
c.*3126del (n.*3126del)
c.7369del (p.Ser2457LeufsTer18)
n.378-1786del
c.7441del (p.Ser2481LeufsTer18)
c.7366del (p.Ser2456LeufsTer18)
c.7066del (p.Ser2356LeufsTer18)
c.4330del (p.Ser1444LeufsTer18)
c.3223del (p.Ser1075LeufsTer18)
n.1830+5584del
c.7249del (p.Ser2417LeufsTer18)
c.3001del (p.Ser1001LeufsTer18)
c.6229del (p.Ser2077LeufsTer18)
 gnomAD v4
8g.99776898_99776901delCA857581703VPS13Bc.7446_7449del (p.Phe2483SerfsTer16)
n.7516_7519del
c.*3128_*3131del (n.*3128_*3131del)
c.7371_7374del (p.Phe2458SerfsTer16)
n.378-1784_378-1781del
c.7443_7446del (p.Phe2482SerfsTer16)
c.7368_7371del (p.Phe2457SerfsTer16)
c.7068_7071del (p.Phe2357SerfsTer16)
c.4332_4335del (p.Phe1445SerfsTer16)
c.3225_3228del (p.Phe1076SerfsTer16)
n.1830+5581_1830+5584del
c.7251_7254del (p.Phe2418SerfsTer16)
c.3003_3006del (p.Phe1002SerfsTer16)
c.6231_6234del (p.Phe2078SerfsTer16)
 dbSNP
8g.99776895T>ACA462449213VPS13Bc.7443T>A (p.Val2481=)
n.7513T>A
c.*3125T>A (n.*3125T>A)
c.7368T>A (p.Val2456=)
n.378-1787T>A
c.7440T>A (p.Val2480=)
c.7365T>A (p.Val2455=)
c.7065T>A (p.Val2355=)
c.4329T>A (p.Val1443=)
c.3222T>A (p.Val1074=)
n.1830+5583A>T
c.7248T>A (p.Val2416=)
c.3000T>A (p.Val1000=)
c.6228T>A (p.Val2076=)
8g.99776895T>CCA462449215VPS13Bc.7443T>C (p.Val2481=)
n.7513T>C
c.*3125T>C (n.*3125T>C)
c.7368T>C (p.Val2456=)
n.378-1787T>C
c.7440T>C (p.Val2480=)
c.7365T>C (p.Val2455=)
c.7065T>C (p.Val2355=)
c.4329T>C (p.Val1443=)
c.3222T>C (p.Val1074=)
n.1830+5583A>G
c.7248T>C (p.Val2416=)
c.3000T>C (p.Val1000=)
c.6228T>C (p.Val2076=)
8g.99776895T>GCA462449214VPS13Bc.7443T>G (p.Val2481=)
n.7513T>G
c.*3125T>G (n.*3125T>G)
c.7368T>G (p.Val2456=)
n.378-1787T>G
c.7440T>G (p.Val2480=)
c.7365T>G (p.Val2455=)
c.7065T>G (p.Val2355=)
c.4329T>G (p.Val1443=)
c.3222T>G (p.Val1074=)
n.1830+5583A>C
c.7248T>G (p.Val2416=)
c.3000T>G (p.Val1000=)
c.6228T>G (p.Val2076=)
8g.99776896T>ACA371875786VPS13Bc.7444T>A (p.Ser2482Thr)
n.7514T>A
c.*3126T>A (n.*3126T>A)
c.7369T>A (p.Ser2457Thr)
n.378-1786T>A
c.7441T>A (p.Ser2481Thr)
c.7366T>A (p.Ser2456Thr)
c.7066T>A (p.Ser2356Thr)
c.4330T>A (p.Ser1444Thr)
c.3223T>A (p.Ser1075Thr)
n.1830+5582A>T
c.7249T>A (p.Ser2417Thr)
c.3001T>A (p.Ser1001Thr)
c.6229T>A (p.Ser2077Thr)
8g.99776896T>CCA371875787VPS13Bc.7444T>C (p.Ser2482Pro)
n.7514T>C
c.*3126T>C (n.*3126T>C)
c.7369T>C (p.Ser2457Pro)
n.378-1786T>C
c.7441T>C (p.Ser2481Pro)
c.7366T>C (p.Ser2456Pro)
c.7066T>C (p.Ser2356Pro)
c.4330T>C (p.Ser1444Pro)
c.3223T>C (p.Ser1075Pro)
n.1830+5582A>G
c.7249T>C (p.Ser2417Pro)
c.3001T>C (p.Ser1001Pro)
c.6229T>C (p.Ser2077Pro)
8g.99776896T>GCA371875788VPS13Bc.7444T>G (p.Ser2482Ala)
n.7514T>G
c.*3126T>G (n.*3126T>G)
c.7369T>G (p.Ser2457Ala)
n.378-1786T>G
c.7441T>G (p.Ser2481Ala)
c.7366T>G (p.Ser2456Ala)
c.7066T>G (p.Ser2356Ala)
c.4330T>G (p.Ser1444Ala)
c.3223T>G (p.Ser1075Ala)
n.1830+5582A>C
c.7249T>G (p.Ser2417Ala)
c.3001T>G (p.Ser1001Ala)
c.6229T>G (p.Ser2077Ala)
8g.99776897C>ACA371875789VPS13Bc.7445C>A (p.Ser2482Tyr)
n.7515C>A
c.*3127C>A (n.*3127C>A)
c.7370C>A (p.Ser2457Tyr)
n.378-1785C>A
c.7442C>A (p.Ser2481Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7067C>A (p.Ser2356Tyr)
c.4331C>A (p.Ser1444Tyr)
c.3224C>A (p.Ser1075Tyr)
n.1830+5581G>T
c.7250C>A (p.Ser2417Tyr)
c.3002C>A (p.Ser1001Tyr)
c.6230C>A (p.Ser2077Tyr)
8g.99776897C>GCA4824199VPS13Bc.7445C>G (p.Ser2482Cys)
n.7515C>G
c.*3127C>G (n.*3127C>G)
c.7370C>G (p.Ser2457Cys)
n.378-1785C>G
c.7442C>G (p.Ser2481Cys)
c.7367C>G (p.Ser2456Cys)
c.7067C>G (p.Ser2356Cys)
c.4331C>G (p.Ser1444Cys)
c.3224C>G (p.Ser1075Cys)
n.1830+5581G>C
c.7250C>G (p.Ser2417Cys)
c.3002C>G (p.Ser1001Cys)
c.6230C>G (p.Ser2077Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776897C>TCA371875790VPS13Bc.7445C>T (p.Ser2482Phe)
n.7515C>T
c.*3127C>T (n.*3127C>T)
c.7370C>T (p.Ser2457Phe)
n.378-1785C>T
c.7442C>T (p.Ser2481Phe)
c.7367C>T (p.Ser2456Phe)
c.7067C>T (p.Ser2356Phe)
c.4331C>T (p.Ser1444Phe)
c.3224C>T (p.Ser1075Phe)
n.1830+5581G>A
c.7250C>T (p.Ser2417Phe)
c.3002C>T (p.Ser1001Phe)
c.6230C>T (p.Ser2077Phe)
8g.99776898T>ACA462449216VPS13Bc.7446T>A (p.Ser2482=)
n.7516T>A
c.*3128T>A (n.*3128T>A)
c.7371T>A (p.Ser2457=)
n.378-1784T>A
c.7443T>A (p.Ser2481=)
c.7368T>A (p.Ser2456=)
c.7068T>A (p.Ser2356=)
c.4332T>A (p.Ser1444=)
c.3225T>A (p.Ser1075=)
n.1830+5580A>T
c.7251T>A (p.Ser2417=)
c.3003T>A (p.Ser1001=)
c.6231T>A (p.Ser2077=)
8g.99776898T>CCA4824200VPS13Bc.7446T>C (p.Ser2482=)
n.7516T>C
c.*3128T>C (n.*3128T>C)
c.7371T>C (p.Ser2457=)
n.378-1784T>C
c.7443T>C (p.Ser2481=)
c.7368T>C (p.Ser2456=)
c.7068T>C (p.Ser2356=)
c.4332T>C (p.Ser1444=)
c.3225T>C (p.Ser1075=)
n.1830+5580A>G
c.7251T>C (p.Ser2417=)
c.3003T>C (p.Ser1001=)
c.6231T>C (p.Ser2077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776898T>GCA462449217VPS13Bc.7446T>G (p.Ser2482=)
n.7516T>G
c.*3128T>G (n.*3128T>G)
c.7371T>G (p.Ser2457=)
n.378-1784T>G
c.7443T>G (p.Ser2481=)
c.7368T>G (p.Ser2456=)
c.7068T>G (p.Ser2356=)
c.4332T>G (p.Ser1444=)
c.3225T>G (p.Ser1075=)
n.1830+5580A>C
c.7251T>G (p.Ser2417=)
c.3003T>G (p.Ser1001=)
c.6231T>G (p.Ser2077=)
8g.99776899T>ACA371875791VPS13Bc.7447T>A (p.Phe2483Ile)
n.7517T>A
c.*3129T>A (n.*3129T>A)
c.7372T>A (p.Phe2458Ile)
n.378-1783T>A
c.7444T>A (p.Phe2482Ile)
c.7369T>A (p.Phe2457Ile)
c.7069T>A (p.Phe2357Ile)
c.4333T>A (p.Phe1445Ile)
c.3226T>A (p.Phe1076Ile)
n.1830+5579A>T
c.7252T>A (p.Phe2418Ile)
c.3004T>A (p.Phe1002Ile)
c.6232T>A (p.Phe2078Ile)
8g.99776899T>CCA371875792VPS13Bc.7447T>C (p.Phe2483Leu)
n.7517T>C
c.*3129T>C (n.*3129T>C)
c.7372T>C (p.Phe2458Leu)
n.378-1783T>C
c.7444T>C (p.Phe2482Leu)
c.7369T>C (p.Phe2457Leu)
c.7069T>C (p.Phe2357Leu)
c.4333T>C (p.Phe1445Leu)
c.3226T>C (p.Phe1076Leu)
n.1830+5579A>G
c.7252T>C (p.Phe2418Leu)
c.3004T>C (p.Phe1002Leu)
c.6232T>C (p.Phe2078Leu)
8g.99776899T>GCA371875793VPS13Bc.7447T>G (p.Phe2483Val)
n.7517T>G
c.*3129T>G (n.*3129T>G)
c.7372T>G (p.Phe2458Val)
n.378-1783T>G
c.7444T>G (p.Phe2482Val)
c.7369T>G (p.Phe2457Val)
c.7069T>G (p.Phe2357Val)
c.4333T>G (p.Phe1445Val)
c.3226T>G (p.Phe1076Val)
n.1830+5579A>C
c.7252T>G (p.Phe2418Val)
c.3004T>G (p.Phe1002Val)
c.6232T>G (p.Phe2078Val)
8g.99776900T>ACA371875795VPS13Bc.7448T>A (p.Phe2483Tyr)
n.7518T>A
c.*3130T>A (n.*3130T>A)
c.7373T>A (p.Phe2458Tyr)
n.378-1782T>A
c.7445T>A (p.Phe2482Tyr)
c.7370T>A (p.Phe2457Tyr)
c.7070T>A (p.Phe2357Tyr)
c.4334T>A (p.Phe1445Tyr)
c.3227T>A (p.Phe1076Tyr)
n.1830+5578A>T
c.7253T>A (p.Phe2418Tyr)
c.3005T>A (p.Phe1002Tyr)
c.6233T>A (p.Phe2078Tyr)
8g.99776900T>CCA371875796VPS13Bc.7448T>C (p.Phe2483Ser)
n.7518T>C
c.*3130T>C (n.*3130T>C)
c.7373T>C (p.Phe2458Ser)
n.378-1782T>C
c.7445T>C (p.Phe2482Ser)
c.7370T>C (p.Phe2457Ser)
c.7070T>C (p.Phe2357Ser)
c.4334T>C (p.Phe1445Ser)
c.3227T>C (p.Phe1076Ser)
n.1830+5578A>G
c.7253T>C (p.Phe2418Ser)
c.3005T>C (p.Phe1002Ser)
c.6233T>C (p.Phe2078Ser)
 gnomAD v4
8g.99776900T>GCA371875794VPS13Bc.7448T>G (p.Phe2483Cys)
n.7518T>G
c.*3130T>G (n.*3130T>G)
c.7373T>G (p.Phe2458Cys)
n.378-1782T>G
c.7445T>G (p.Phe2482Cys)
c.7370T>G (p.Phe2457Cys)
c.7070T>G (p.Phe2357Cys)
c.4334T>G (p.Phe1445Cys)
c.3227T>G (p.Phe1076Cys)
n.1830+5578A>C
c.7253T>G (p.Phe2418Cys)
c.3005T>G (p.Phe1002Cys)
c.6233T>G (p.Phe2078Cys)
8g.99776901C>ACA371875798VPS13Bc.7449C>A (p.Phe2483Leu)
n.7519C>A
c.*3131C>A (n.*3131C>A)
c.7374C>A (p.Phe2458Leu)
n.378-1781C>A
c.7446C>A (p.Phe2482Leu)
c.7371C>A (p.Phe2457Leu)
c.7071C>A (p.Phe2357Leu)
c.4335C>A (p.Phe1445Leu)
c.3228C>A (p.Phe1076Leu)
n.1830+5577G>T
c.7254C>A (p.Phe2418Leu)
c.3006C>A (p.Phe1002Leu)
c.6234C>A (p.Phe2078Leu)
8g.99776901C>GCA371875797VPS13Bc.7449C>G (p.Phe2483Leu)
n.7519C>G
c.*3131C>G (n.*3131C>G)
c.7374C>G (p.Phe2458Leu)
n.378-1781C>G
c.7446C>G (p.Phe2482Leu)
c.7371C>G (p.Phe2457Leu)
c.7071C>G (p.Phe2357Leu)
c.4335C>G (p.Phe1445Leu)
c.3228C>G (p.Phe1076Leu)
n.1830+5577G>C
c.7254C>G (p.Phe2418Leu)
c.3006C>G (p.Phe1002Leu)
c.6234C>G (p.Phe2078Leu)
8g.99776901C>TCA462449218VPS13Bc.7449C>T (p.Phe2483=)
n.7519C>T
c.*3131C>T (n.*3131C>T)
c.7374C>T (p.Phe2458=)
n.378-1781C>T
c.7446C>T (p.Phe2482=)
c.7371C>T (p.Phe2457=)
c.7071C>T (p.Phe2357=)
c.4335C>T (p.Phe1445=)
c.3228C>T (p.Phe1076=)
n.1830+5577G>A
c.7254C>T (p.Phe2418=)
c.3006C>T (p.Phe1002=)
c.6234C>T (p.Phe2078=)
 ClinVar gnomAD v4
8g.99776902C>ACA371875799VPS13Bc.7450C>A (p.Gln2484Lys)
n.7520C>A
c.*3132C>A (n.*3132C>A)
c.7375C>A (p.Gln2459Lys)
n.378-1780C>A
c.7447C>A (p.Gln2483Lys)
c.7372C>A (p.Gln2458Lys)
c.7072C>A (p.Gln2358Lys)
c.4336C>A (p.Gln1446Lys)
c.3229C>A (p.Gln1077Lys)
n.1830+5576G>T
c.7255C>A (p.Gln2419Lys)
c.3007C>A (p.Gln1003Lys)
c.6235C>A (p.Gln2079Lys)
8g.99776902C>GCA371875800VPS13Bc.7450C>G (p.Gln2484Glu)
n.7520C>G
c.*3132C>G (n.*3132C>G)
c.7375C>G (p.Gln2459Glu)
n.378-1780C>G
c.7447C>G (p.Gln2483Glu)
c.7372C>G (p.Gln2458Glu)
c.7072C>G (p.Gln2358Glu)
c.4336C>G (p.Gln1446Glu)
c.3229C>G (p.Gln1077Glu)
n.1830+5576G>C
c.7255C>G (p.Gln2419Glu)
c.3007C>G (p.Gln1003Glu)
c.6235C>G (p.Gln2079Glu)
8g.99776902C>TCA371875801VPS13Bc.7450C>T (p.Gln2484Ter)
n.7520C>T
c.*3132C>T (n.*3132C>T)
c.7375C>T (p.Gln2459Ter)
n.378-1780C>T
c.7447C>T (p.Gln2483Ter)
c.7372C>T (p.Gln2458Ter)
c.7072C>T (p.Gln2358Ter)
c.4336C>T (p.Gln1446Ter)
c.3229C>T (p.Gln1077Ter)
n.1830+5576G>A
c.7255C>T (p.Gln2419Ter)
c.3007C>T (p.Gln1003Ter)
c.6235C>T (p.Gln2079Ter)
8g.99776903_99776909delCA2497230830VPS13Bc.7451_7457del (p.Gln2484LeufsTer14)
n.7521_7527del
c.*3133_*3139del (n.*3133_*3139del)
c.7376_7382del (p.Gln2459LeufsTer14)
n.378-1779_378-1773del
c.7448_7454del (p.Gln2483LeufsTer14)
c.7373_7379del (p.Gln2458LeufsTer14)
c.7073_7079del (p.Gln2358LeufsTer14)
c.4337_4343del (p.Gln1446LeufsTer14)
c.3230_3236del (p.Gln1077LeufsTer14)
n.1830+5570_1830+5576del
c.7256_7262del (p.Gln2419LeufsTer14)
c.3008_3014del (p.Gln1003LeufsTer14)
c.6236_6242del (p.Gln2079LeufsTer14)
 dbSNP
8g.99776903A>CCA371875802VPS13Bc.7451A>C (p.Gln2484Pro)
n.7521A>C
c.*3133A>C (n.*3133A>C)
c.7376A>C (p.Gln2459Pro)
n.378-1779A>C
c.7448A>C (p.Gln2483Pro)
c.7373A>C (p.Gln2458Pro)
c.7073A>C (p.Gln2358Pro)
c.4337A>C (p.Gln1446Pro)
c.3230A>C (p.Gln1077Pro)
n.1830+5575T>G
c.7256A>C (p.Gln2419Pro)
c.3008A>C (p.Gln1003Pro)
c.6236A>C (p.Gln2079Pro)
8g.99776903A>GCA371875803VPS13Bc.7451A>G (p.Gln2484Arg)
n.7521A>G
c.*3133A>G (n.*3133A>G)
c.7376A>G (p.Gln2459Arg)
n.378-1779A>G
c.7448A>G (p.Gln2483Arg)
c.7373A>G (p.Gln2458Arg)
c.7073A>G (p.Gln2358Arg)
c.4337A>G (p.Gln1446Arg)
c.3230A>G (p.Gln1077Arg)
n.1830+5575T>C
c.7256A>G (p.Gln2419Arg)
c.3008A>G (p.Gln1003Arg)
c.6236A>G (p.Gln2079Arg)
8g.99776903A>TCA371875804VPS13Bc.7451A>T (p.Gln2484Leu)
n.7521A>T
c.*3133A>T (n.*3133A>T)
c.7376A>T (p.Gln2459Leu)
n.378-1779A>T
c.7448A>T (p.Gln2483Leu)
c.7373A>T (p.Gln2458Leu)
c.7073A>T (p.Gln2358Leu)
c.4337A>T (p.Gln1446Leu)
c.3230A>T (p.Gln1077Leu)
n.1830+5575T>A
c.7256A>T (p.Gln2419Leu)
c.3008A>T (p.Gln1003Leu)
c.6236A>T (p.Gln2079Leu)
8g.99776904G>ACA462449219VPS13Bc.7452G>A (p.Gln2484=)
n.7522G>A
c.*3134G>A (n.*3134G>A)
c.7377G>A (p.Gln2459=)
n.378-1778G>A
c.7449G>A (p.Gln2483=)
c.7374G>A (p.Gln2458=)
c.7074G>A (p.Gln2358=)
c.4338G>A (p.Gln1446=)
c.3231G>A (p.Gln1077=)
n.1830+5574C>T
c.7257G>A (p.Gln2419=)
c.3009G>A (p.Gln1003=)
c.6237G>A (p.Gln2079=)
8g.99776904G>CCA371875805VPS13Bc.7452G>C (p.Gln2484His)
n.7522G>C
c.*3134G>C (n.*3134G>C)
c.7377G>C (p.Gln2459His)
n.378-1778G>C
c.7449G>C (p.Gln2483His)
c.7374G>C (p.Gln2458His)
c.7074G>C (p.Gln2358His)
c.4338G>C (p.Gln1446His)
c.3231G>C (p.Gln1077His)
n.1830+5574C>G
c.7257G>C (p.Gln2419His)
c.3009G>C (p.Gln1003His)
c.6237G>C (p.Gln2079His)
 ClinVar gnomAD v4
8g.99776904G>TCA371875806VPS13Bc.7452G>T (p.Gln2484His)
n.7522G>T
c.*3134G>T (n.*3134G>T)
c.7377G>T (p.Gln2459His)
n.378-1778G>T
c.7449G>T (p.Gln2483His)
c.7374G>T (p.Gln2458His)
c.7074G>T (p.Gln2358His)
c.4338G>T (p.Gln1446His)
c.3231G>T (p.Gln1077His)
n.1830+5574C>A
c.7257G>T (p.Gln2419His)
c.3009G>T (p.Gln1003His)
c.6237G>T (p.Gln2079His)
8g.99776905T>ACA371875807VPS13Bc.7453T>A (p.Phe2485Ile)
n.7523T>A
c.*3135T>A (n.*3135T>A)
c.7378T>A (p.Phe2460Ile)
n.378-1777T>A
c.7450T>A (p.Phe2484Ile)
c.7375T>A (p.Phe2459Ile)
c.7075T>A (p.Phe2359Ile)
c.4339T>A (p.Phe1447Ile)
c.3232T>A (p.Phe1078Ile)
n.1830+5573A>T
c.7258T>A (p.Phe2420Ile)
c.3010T>A (p.Phe1004Ile)
c.6238T>A (p.Phe2080Ile)
8g.99776905T>CCA371875808VPS13Bc.7453T>C (p.Phe2485Leu)
n.7523T>C
c.*3135T>C (n.*3135T>C)
c.7378T>C (p.Phe2460Leu)
n.378-1777T>C
c.7450T>C (p.Phe2484Leu)
c.7375T>C (p.Phe2459Leu)
c.7075T>C (p.Phe2359Leu)
c.4339T>C (p.Phe1447Leu)
c.3232T>C (p.Phe1078Leu)
n.1830+5573A>G
c.7258T>C (p.Phe2420Leu)
c.3010T>C (p.Phe1004Leu)
c.6238T>C (p.Phe2080Leu)
 dbSNP
8g.99776905T>GCA371875809VPS13Bc.7453T>G (p.Phe2485Val)
n.7523T>G
c.*3135T>G (n.*3135T>G)
c.7378T>G (p.Phe2460Val)
n.378-1777T>G
c.7450T>G (p.Phe2484Val)
c.7375T>G (p.Phe2459Val)
c.7075T>G (p.Phe2359Val)
c.4339T>G (p.Phe1447Val)
c.3232T>G (p.Phe1078Val)
n.1830+5573A>C
c.7258T>G (p.Phe2420Val)
c.3010T>G (p.Phe1004Val)
c.6238T>G (p.Phe2080Val)
8g.99776906T>ACA371875811VPS13Bc.7454T>A (p.Phe2485Tyr)
n.7524T>A
c.*3136T>A (n.*3136T>A)
c.7379T>A (p.Phe2460Tyr)
n.378-1776T>A
c.7451T>A (p.Phe2484Tyr)
c.7376T>A (p.Phe2459Tyr)
c.7076T>A (p.Phe2359Tyr)
c.4340T>A (p.Phe1447Tyr)
c.3233T>A (p.Phe1078Tyr)
n.1830+5572A>T
c.7259T>A (p.Phe2420Tyr)
c.3011T>A (p.Phe1004Tyr)
c.6239T>A (p.Phe2080Tyr)
 dbSNP
8g.99776906T>CCA371875812VPS13Bc.7454T>C (p.Phe2485Ser)
n.7524T>C
c.*3136T>C (n.*3136T>C)
c.7379T>C (p.Phe2460Ser)
n.378-1776T>C
c.7451T>C (p.Phe2484Ser)
c.7376T>C (p.Phe2459Ser)
c.7076T>C (p.Phe2359Ser)
c.4340T>C (p.Phe1447Ser)
c.3233T>C (p.Phe1078Ser)
n.1830+5572A>G
c.7259T>C (p.Phe2420Ser)
c.3011T>C (p.Phe1004Ser)
c.6239T>C (p.Phe2080Ser)
8g.99776906T>GCA371875810VPS13Bc.7454T>G (p.Phe2485Cys)
n.7524T>G
c.*3136T>G (n.*3136T>G)
c.7379T>G (p.Phe2460Cys)
n.378-1776T>G
c.7451T>G (p.Phe2484Cys)
c.7376T>G (p.Phe2459Cys)
c.7076T>G (p.Phe2359Cys)
c.4340T>G (p.Phe1447Cys)
c.3233T>G (p.Phe1078Cys)
n.1830+5572A>C
c.7259T>G (p.Phe2420Cys)
c.3011T>G (p.Phe1004Cys)
c.6239T>G (p.Phe2080Cys)
8g.99776907T>ACA371875813VPS13Bc.7455T>A (p.Phe2485Leu)
n.7525T>A
c.*3137T>A (n.*3137T>A)
c.7380T>A (p.Phe2460Leu)
n.378-1775T>A
c.7452T>A (p.Phe2484Leu)
c.7377T>A (p.Phe2459Leu)
c.7077T>A (p.Phe2359Leu)
c.4341T>A (p.Phe1447Leu)
c.3234T>A (p.Phe1078Leu)
n.1830+5571A>T
c.7260T>A (p.Phe2420Leu)
c.3012T>A (p.Phe1004Leu)
c.6240T>A (p.Phe2080Leu)
8g.99776907T>CCA462449220VPS13Bc.7455T>C (p.Phe2485=)
n.7525T>C
c.*3137T>C (n.*3137T>C)
c.7380T>C (p.Phe2460=)
n.378-1775T>C
c.7452T>C (p.Phe2484=)
c.7377T>C (p.Phe2459=)
c.7077T>C (p.Phe2359=)
c.4341T>C (p.Phe1447=)
c.3234T>C (p.Phe1078=)
n.1830+5571A>G
c.7260T>C (p.Phe2420=)
c.3012T>C (p.Phe1004=)
c.6240T>C (p.Phe2080=)
8g.99776907T>GCA4824201VPS13Bc.7455T>G (p.Phe2485Leu)
n.7525T>G
c.*3137T>G (n.*3137T>G)
c.7380T>G (p.Phe2460Leu)
n.378-1775T>G
c.7452T>G (p.Phe2484Leu)
c.7377T>G (p.Phe2459Leu)
c.7077T>G (p.Phe2359Leu)
c.4341T>G (p.Phe1447Leu)
c.3234T>G (p.Phe1078Leu)
n.1830+5571A>C
c.7260T>G (p.Phe2420Leu)
c.3012T>G (p.Phe1004Leu)
c.6240T>G (p.Phe2080Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776908G>ACA371875814VPS13Bc.7456G>A (p.Ala2486Thr)
n.7526G>A
c.*3138G>A (n.*3138G>A)
c.7381G>A (p.Ala2461Thr)
n.378-1774G>A
c.7453G>A (p.Ala2485Thr)
c.7378G>A (p.Ala2460Thr)
c.7078G>A (p.Ala2360Thr)
c.4342G>A (p.Ala1448Thr)
c.3235G>A (p.Ala1079Thr)
n.1830+5570C>T
c.7261G>A (p.Ala2421Thr)
c.3013G>A (p.Ala1005Thr)
c.6241G>A (p.Ala2081Thr)
 gnomAD v4
8g.99776908G>CCA371875815VPS13Bc.7456G>C (p.Ala2486Pro)
n.7526G>C
c.*3138G>C (n.*3138G>C)
c.7381G>C (p.Ala2461Pro)
n.378-1774G>C
c.7453G>C (p.Ala2485Pro)
c.7378G>C (p.Ala2460Pro)
c.7078G>C (p.Ala2360Pro)
c.4342G>C (p.Ala1448Pro)
c.3235G>C (p.Ala1079Pro)
n.1830+5570C>G
c.7261G>C (p.Ala2421Pro)
c.3013G>C (p.Ala1005Pro)
c.6241G>C (p.Ala2081Pro)
8g.99776908G>TCA371875816VPS13Bc.7456G>T (p.Ala2486Ser)
n.7526G>T
c.*3138G>T (n.*3138G>T)
c.7381G>T (p.Ala2461Ser)
n.378-1774G>T
c.7453G>T (p.Ala2485Ser)
c.7378G>T (p.Ala2460Ser)
c.7078G>T (p.Ala2360Ser)
c.4342G>T (p.Ala1448Ser)
c.3235G>T (p.Ala1079Ser)
n.1830+5570C>A
c.7261G>T (p.Ala2421Ser)
c.3013G>T (p.Ala1005Ser)
c.6241G>T (p.Ala2081Ser)
 gnomAD v4
8g.99776909C>ACA371875819VPS13Bc.7457C>A (p.Ala2486Asp)
n.7527C>A
c.*3139C>A (n.*3139C>A)
c.7382C>A (p.Ala2461Asp)
n.378-1773C>A
c.7454C>A (p.Ala2485Asp)
c.7379C>A (p.Ala2460Asp)
c.7079C>A (p.Ala2360Asp)
c.4343C>A (p.Ala1448Asp)
c.3236C>A (p.Ala1079Asp)
n.1830+5569G>T
c.7262C>A (p.Ala2421Asp)
c.3014C>A (p.Ala1005Asp)
c.6242C>A (p.Ala2081Asp)
8g.99776909C>GCA371875817VPS13Bc.7457C>G (p.Ala2486Gly)
n.7527C>G
c.*3139C>G (n.*3139C>G)
c.7382C>G (p.Ala2461Gly)
n.378-1773C>G
c.7454C>G (p.Ala2485Gly)
c.7379C>G (p.Ala2460Gly)
c.7079C>G (p.Ala2360Gly)
c.4343C>G (p.Ala1448Gly)
c.3236C>G (p.Ala1079Gly)
n.1830+5569G>C
c.7262C>G (p.Ala2421Gly)
c.3014C>G (p.Ala1005Gly)
c.6242C>G (p.Ala2081Gly)
8g.99776909C>TCA371875818VPS13Bc.7457C>T (p.Ala2486Val)
n.7527C>T
c.*3139C>T (n.*3139C>T)
c.7382C>T (p.Ala2461Val)
n.378-1773C>T
c.7454C>T (p.Ala2485Val)
c.7379C>T (p.Ala2460Val)
c.7079C>T (p.Ala2360Val)
c.4343C>T (p.Ala1448Val)
c.3236C>T (p.Ala1079Val)
n.1830+5569G>A
c.7262C>T (p.Ala2421Val)
c.3014C>T (p.Ala1005Val)
c.6242C>T (p.Ala2081Val)
8g.99776910T>ACA462449221VPS13Bc.7458T>A (p.Ala2486=)
n.7528T>A
c.*3140T>A (n.*3140T>A)
c.7383T>A (p.Ala2461=)
n.378-1772T>A
c.7455T>A (p.Ala2485=)
c.7380T>A (p.Ala2460=)
c.7080T>A (p.Ala2360=)
c.4344T>A (p.Ala1448=)
c.3237T>A (p.Ala1079=)
n.1830+5568A>T
c.7263T>A (p.Ala2421=)
c.3015T>A (p.Ala1005=)
c.6243T>A (p.Ala2081=)
8g.99776910T>CCA462449222VPS13Bc.7458T>C (p.Ala2486=)
n.7528T>C
c.*3140T>C (n.*3140T>C)
c.7383T>C (p.Ala2461=)
n.378-1772T>C
c.7455T>C (p.Ala2485=)
c.7380T>C (p.Ala2460=)
c.7080T>C (p.Ala2360=)
c.4344T>C (p.Ala1448=)
c.3237T>C (p.Ala1079=)
n.1830+5568A>G
c.7263T>C (p.Ala2421=)
c.3015T>C (p.Ala1005=)
c.6243T>C (p.Ala2081=)
8g.99776910T>GCA462449223VPS13Bc.7458T>G (p.Ala2486=)
n.7528T>G
c.*3140T>G (n.*3140T>G)
c.7383T>G (p.Ala2461=)
n.378-1772T>G
c.7455T>G (p.Ala2485=)
c.7380T>G (p.Ala2460=)
c.7080T>G (p.Ala2360=)
c.4344T>G (p.Ala1448=)
c.3237T>G (p.Ala1079=)
n.1830+5568A>C
c.7263T>G (p.Ala2421=)
c.3015T>G (p.Ala1005=)
c.6243T>G (p.Ala2081=)
8g.99776911C>ACA371875820VPS13Bc.7459C>A (p.His2487Asn)
n.7529C>A
c.*3141C>A (n.*3141C>A)
c.7384C>A (p.His2462Asn)
n.378-1771C>A
c.7456C>A (p.His2486Asn)
c.7381C>A (p.His2461Asn)
c.7081C>A (p.His2361Asn)
c.4345C>A (p.His1449Asn)
c.3238C>A (p.His1080Asn)
n.1830+5567G>T
c.7264C>A (p.His2422Asn)
c.3016C>A (p.His1006Asn)
c.6244C>A (p.His2082Asn)
8g.99776911C>GCA371875821VPS13Bc.7459C>G (p.His2487Asp)
n.7529C>G
c.*3141C>G (n.*3141C>G)
c.7384C>G (p.His2462Asp)
n.378-1771C>G
c.7456C>G (p.His2486Asp)
c.7381C>G (p.His2461Asp)
c.7081C>G (p.His2361Asp)
c.4345C>G (p.His1449Asp)
c.3238C>G (p.His1080Asp)
n.1830+5567G>C
c.7264C>G (p.His2422Asp)
c.3016C>G (p.His1006Asp)
c.6244C>G (p.His2082Asp)
8g.99776911C>TCA371875822VPS13Bc.7459C>T (p.His2487Tyr)
n.7529C>T
c.*3141C>T (n.*3141C>T)
c.7384C>T (p.His2462Tyr)
n.378-1771C>T
c.7456C>T (p.His2486Tyr)
c.7381C>T (p.His2461Tyr)
c.7081C>T (p.His2361Tyr)
c.4345C>T (p.His1449Tyr)
c.3238C>T (p.His1080Tyr)
n.1830+5567G>A
c.7264C>T (p.His2422Tyr)
c.3016C>T (p.His1006Tyr)
c.6244C>T (p.His2082Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.99776912A>CCA4824202VPS13Bc.7460A>C (p.His2487Pro)
n.7530A>C
c.*3142A>C (n.*3142A>C)
c.7385A>C (p.His2462Pro)
n.378-1770A>C
c.7457A>C (p.His2486Pro)
c.7382A>C (p.His2461Pro)
c.7082A>C (p.His2361Pro)
c.4346A>C (p.His1449Pro)
c.3239A>C (p.His1080Pro)
n.1830+5566T>G
c.7265A>C (p.His2422Pro)
c.3017A>C (p.His1006Pro)
c.6245A>C (p.His2082Pro)
 dbSNP ExAC gnomAD v2
8g.99776912A>GCA371875823VPS13Bc.7460A>G (p.His2487Arg)
n.7530A>G
c.*3142A>G (n.*3142A>G)
c.7385A>G (p.His2462Arg)
n.378-1770A>G
c.7457A>G (p.His2486Arg)
c.7382A>G (p.His2461Arg)
c.7082A>G (p.His2361Arg)
c.4346A>G (p.His1449Arg)
c.3239A>G (p.His1080Arg)
n.1830+5566T>C
c.7265A>G (p.His2422Arg)
c.3017A>G (p.His1006Arg)
c.6245A>G (p.His2082Arg)
8g.99776912A>TCA371875824VPS13Bc.7460A>T (p.His2487Leu)
n.7530A>T
c.*3142A>T (n.*3142A>T)
c.7385A>T (p.His2462Leu)
n.378-1770A>T
c.7457A>T (p.His2486Leu)
c.7382A>T (p.His2461Leu)
c.7082A>T (p.His2361Leu)
c.4346A>T (p.His1449Leu)
c.3239A>T (p.His1080Leu)
n.1830+5566T>A
c.7265A>T (p.His2422Leu)
c.3017A>T (p.His1006Leu)
c.6245A>T (p.His2082Leu)
8g.99776913C>ACA371875825VPS13Bc.7461C>A (p.His2487Gln)
n.7531C>A
c.*3143C>A (n.*3143C>A)
c.7386C>A (p.His2462Gln)
n.378-1769C>A
c.7458C>A (p.His2486Gln)
c.7383C>A (p.His2461Gln)
c.7083C>A (p.His2361Gln)
c.4347C>A (p.His1449Gln)
c.3240C>A (p.His1080Gln)
n.1830+5565G>T
c.7266C>A (p.His2422Gln)
c.3018C>A (p.His1006Gln)
c.6246C>A (p.His2082Gln)
8g.99776913C>GCA371875826VPS13Bc.7461C>G (p.His2487Gln)
n.7531C>G
c.*3143C>G (n.*3143C>G)
c.7386C>G (p.His2462Gln)
n.378-1769C>G
c.7458C>G (p.His2486Gln)
c.7383C>G (p.His2461Gln)
c.7083C>G (p.His2361Gln)
c.4347C>G (p.His1449Gln)
c.3240C>G (p.His1080Gln)
n.1830+5565G>C
c.7266C>G (p.His2422Gln)
c.3018C>G (p.His1006Gln)
c.6246C>G (p.His2082Gln)
8g.99776913C>TCA462449224VPS13Bc.7461C>T (p.His2487=)
n.7531C>T
c.*3143C>T (n.*3143C>T)
c.7386C>T (p.His2462=)
n.378-1769C>T
c.7458C>T (p.His2486=)
c.7383C>T (p.His2461=)
c.7083C>T (p.His2361=)
c.4347C>T (p.His1449=)
c.3240C>T (p.His1080=)
n.1830+5565G>A
c.7266C>T (p.His2422=)
c.3018C>T (p.His1006=)
c.6246C>T (p.His2082=)
8g.99776914C>ACA371875827VPS13Bc.7462C>A (p.Leu2488Met)
n.7532C>A
c.*3144C>A (n.*3144C>A)
c.7387C>A (p.Leu2463Met)
n.378-1768C>A
c.7459C>A (p.Leu2487Met)
c.7384C>A (p.Leu2462Met)
c.7084C>A (p.Leu2362Met)
c.4348C>A (p.Leu1450Met)
c.3241C>A (p.Leu1081Met)
n.1830+5564G>T
c.7267C>A (p.Leu2423Met)
c.3019C>A (p.Leu1007Met)
c.6247C>A (p.Leu2083Met)
8g.99776914C>GCA371875828VPS13Bc.7462C>G (p.Leu2488Val)
n.7532C>G
c.*3144C>G (n.*3144C>G)
c.7387C>G (p.Leu2463Val)
n.378-1768C>G
c.7459C>G (p.Leu2487Val)
c.7384C>G (p.Leu2462Val)
c.7084C>G (p.Leu2362Val)
c.4348C>G (p.Leu1450Val)
c.3241C>G (p.Leu1081Val)
n.1830+5564G>C
c.7267C>G (p.Leu2423Val)
c.3019C>G (p.Leu1007Val)
c.6247C>G (p.Leu2083Val)
 gnomAD v4
8g.99776914C>TCA462449225VPS13Bc.7462C>T (p.Leu2488=)
n.7532C>T
c.*3144C>T (n.*3144C>T)
c.7387C>T (p.Leu2463=)
n.378-1768C>T
c.7459C>T (p.Leu2487=)
c.7384C>T (p.Leu2462=)
c.7084C>T (p.Leu2362=)
c.4348C>T (p.Leu1450=)
c.3241C>T (p.Leu1081=)
n.1830+5564G>A
c.7267C>T (p.Leu2423=)
c.3019C>T (p.Leu1007=)
c.6247C>T (p.Leu2083=)
8g.99776915T>ACA371875829VPS13Bc.7463T>A (p.Leu2488Gln)
n.7533T>A
c.*3145T>A (n.*3145T>A)
c.7388T>A (p.Leu2463Gln)
n.378-1767T>A
c.7460T>A (p.Leu2487Gln)
c.7385T>A (p.Leu2462Gln)
c.7085T>A (p.Leu2362Gln)
c.4349T>A (p.Leu1450Gln)
c.3242T>A (p.Leu1081Gln)
n.1830+5563A>T
c.7268T>A (p.Leu2423Gln)
c.3020T>A (p.Leu1007Gln)
c.6248T>A (p.Leu2083Gln)
8g.99776915T>CCA371875830VPS13Bc.7463T>C (p.Leu2488Pro)
n.7533T>C
c.*3145T>C (n.*3145T>C)
c.7388T>C (p.Leu2463Pro)
n.378-1767T>C
c.7460T>C (p.Leu2487Pro)
c.7385T>C (p.Leu2462Pro)
c.7085T>C (p.Leu2362Pro)
c.4349T>C (p.Leu1450Pro)
c.3242T>C (p.Leu1081Pro)
n.1830+5563A>G
c.7268T>C (p.Leu2423Pro)
c.3020T>C (p.Leu1007Pro)
c.6248T>C (p.Leu2083Pro)
8g.99776915T>GCA371875831VPS13Bc.7463T>G (p.Leu2488Arg)
n.7533T>G
c.*3145T>G (n.*3145T>G)
c.7388T>G (p.Leu2463Arg)
n.378-1767T>G
c.7460T>G (p.Leu2487Arg)
c.7385T>G (p.Leu2462Arg)
c.7085T>G (p.Leu2362Arg)
c.4349T>G (p.Leu1450Arg)
c.3242T>G (p.Leu1081Arg)
n.1830+5563A>C
c.7268T>G (p.Leu2423Arg)
c.3020T>G (p.Leu1007Arg)
c.6248T>G (p.Leu2083Arg)
 gnomAD v4
8g.99776916G>ACA462449226VPS13Bc.7464G>A (p.Leu2488=)
n.7534G>A
c.*3146G>A (n.*3146G>A)
c.7389G>A (p.Leu2463=)
n.378-1766G>A
c.7461G>A (p.Leu2487=)
c.7386G>A (p.Leu2462=)
c.7086G>A (p.Leu2362=)
c.4350G>A (p.Leu1450=)
c.3243G>A (p.Leu1081=)
n.1830+5562C>T
c.7269G>A (p.Leu2423=)
c.3021G>A (p.Leu1007=)
c.6249G>A (p.Leu2083=)
8g.99776916G>CCA462449227VPS13Bc.7464G>C (p.Leu2488=)
n.7534G>C
c.*3146G>C (n.*3146G>C)
c.7389G>C (p.Leu2463=)
n.378-1766G>C
c.7461G>C (p.Leu2487=)
c.7386G>C (p.Leu2462=)
c.7086G>C (p.Leu2362=)
c.4350G>C (p.Leu1450=)
c.3243G>C (p.Leu1081=)
n.1830+5562C>G
c.7269G>C (p.Leu2423=)
c.3021G>C (p.Leu1007=)
c.6249G>C (p.Leu2083=)
8g.99776916G>TCA462449228VPS13Bc.7464G>T (p.Leu2488=)
n.7534G>T
c.*3146G>T (n.*3146G>T)
c.7389G>T (p.Leu2463=)
n.378-1766G>T
c.7461G>T (p.Leu2487=)
c.7386G>T (p.Leu2462=)
c.7086G>T (p.Leu2362=)
c.4350G>T (p.Leu1450=)
c.3243G>T (p.Leu1081=)
n.1830+5562C>A
c.7269G>T (p.Leu2423=)
c.3021G>T (p.Leu1007=)
c.6249G>T (p.Leu2083=)
8g.99776917G>ACA371875832VPS13Bc.7465G>A (p.Glu2489Lys)
n.7535G>A
c.*3147G>A (n.*3147G>A)
c.7390G>A (p.Glu2464Lys)
n.378-1765G>A
c.7462G>A (p.Glu2488Lys)
c.7387G>A (p.Glu2463Lys)
c.7087G>A (p.Glu2363Lys)
c.4351G>A (p.Glu1451Lys)
c.3244G>A (p.Glu1082Lys)
n.1830+5561C>T
c.7270G>A (p.Glu2424Lys)
c.3022G>A (p.Glu1008Lys)
c.6250G>A (p.Glu2084Lys)
8g.99776917G>CCA4824203VPS13Bc.7465G>C (p.Glu2489Gln)
n.7535G>C
c.*3147G>C (n.*3147G>C)
c.7390G>C (p.Glu2464Gln)
n.378-1765G>C
c.7462G>C (p.Glu2488Gln)
c.7387G>C (p.Glu2463Gln)
c.7087G>C (p.Glu2363Gln)
c.4351G>C (p.Glu1451Gln)
c.3244G>C (p.Glu1082Gln)
n.1830+5561C>G
c.7270G>C (p.Glu2424Gln)
c.3022G>C (p.Glu1008Gln)
c.6250G>C (p.Glu2084Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776917G>TCA371875833VPS13Bc.7465G>T (p.Glu2489Ter)
n.7535G>T
c.*3147G>T (n.*3147G>T)
c.7390G>T (p.Glu2464Ter)
n.378-1765G>T
c.7462G>T (p.Glu2488Ter)
c.7387G>T (p.Glu2463Ter)
c.7087G>T (p.Glu2363Ter)
c.4351G>T (p.Glu1451Ter)
c.3244G>T (p.Glu1082Ter)
n.1830+5561C>A
c.7270G>T (p.Glu2424Ter)
c.3022G>T (p.Glu1008Ter)
c.6250G>T (p.Glu2084Ter)
 gnomAD v4
8g.99776918A>CCA371875834VPS13Bc.7466A>C (p.Glu2489Ala)
n.7536A>C
c.*3148A>C (n.*3148A>C)
c.7391A>C (p.Glu2464Ala)
n.378-1764A>C
c.7463A>C (p.Glu2488Ala)
c.7388A>C (p.Glu2463Ala)
c.7088A>C (p.Glu2363Ala)
c.4352A>C (p.Glu1451Ala)
c.3245A>C (p.Glu1082Ala)
n.1830+5560T>G
c.7271A>C (p.Glu2424Ala)
c.3023A>C (p.Glu1008Ala)
c.6251A>C (p.Glu2084Ala)
8g.99776918A>GCA371875835VPS13Bc.7466A>G (p.Glu2489Gly)
n.7536A>G
c.*3148A>G (n.*3148A>G)
c.7391A>G (p.Glu2464Gly)
n.378-1764A>G
c.7463A>G (p.Glu2488Gly)
c.7388A>G (p.Glu2463Gly)
c.7088A>G (p.Glu2363Gly)
c.4352A>G (p.Glu1451Gly)
c.3245A>G (p.Glu1082Gly)
n.1830+5560T>C
c.7271A>G (p.Glu2424Gly)
c.3023A>G (p.Glu1008Gly)
c.6251A>G (p.Glu2084Gly)
8g.99776918A>TCA371875836VPS13Bc.7466A>T (p.Glu2489Val)
n.7536A>T
c.*3148A>T (n.*3148A>T)
c.7391A>T (p.Glu2464Val)
n.378-1764A>T
c.7463A>T (p.Glu2488Val)
c.7388A>T (p.Glu2463Val)
c.7088A>T (p.Glu2363Val)
c.4352A>T (p.Glu1451Val)
c.3245A>T (p.Glu1082Val)
n.1830+5560T>A
c.7271A>T (p.Glu2424Val)
c.3023A>T (p.Glu1008Val)
c.6251A>T (p.Glu2084Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99776919A>CCA371875837VPS13Bc.7467A>C (p.Glu2489Asp)
n.7537A>C
c.*3149A>C (n.*3149A>C)
c.7392A>C (p.Glu2464Asp)
n.378-1763A>C
c.7464A>C (p.Glu2488Asp)
c.7389A>C (p.Glu2463Asp)
c.7089A>C (p.Glu2363Asp)
c.4353A>C (p.Glu1451Asp)
c.3246A>C (p.Glu1082Asp)
n.1830+5559T>G
c.7272A>C (p.Glu2424Asp)
c.3024A>C (p.Glu1008Asp)
c.6252A>C (p.Glu2084Asp)
8g.99776919A>GCA4824204VPS13Bc.7467A>G (p.Glu2489=)
n.7537A>G
c.*3149A>G (n.*3149A>G)
c.7392A>G (p.Glu2464=)
n.378-1763A>G
c.7464A>G (p.Glu2488=)
c.7389A>G (p.Glu2463=)
c.7089A>G (p.Glu2363=)
c.4353A>G (p.Glu1451=)
c.3246A>G (p.Glu1082=)
n.1830+5559T>C
c.7272A>G (p.Glu2424=)
c.3024A>G (p.Glu1008=)
c.6252A>G (p.Glu2084=)
 dbSNP ExAC gnomAD v2
8g.99776919A>TCA371875838VPS13Bc.7467A>T (p.Glu2489Asp)
n.7537A>T
c.*3149A>T (n.*3149A>T)
c.7392A>T (p.Glu2464Asp)
n.378-1763A>T
c.7464A>T (p.Glu2488Asp)
c.7389A>T (p.Glu2463Asp)
c.7089A>T (p.Glu2363Asp)
c.4353A>T (p.Glu1451Asp)
c.3246A>T (p.Glu1082Asp)
n.1830+5559T>A
c.7272A>T (p.Glu2424Asp)
c.3024A>T (p.Glu1008Asp)
c.6252A>T (p.Glu2084Asp)
8g.99776920T>ACA371875841VPS13Bc.7468T>A (p.Phe2490Ile)
n.7538T>A
c.*3150T>A (n.*3150T>A)
c.7393T>A (p.Phe2465Ile)
n.378-1762T>A
c.7465T>A (p.Phe2489Ile)
c.7390T>A (p.Phe2464Ile)
c.7090T>A (p.Phe2364Ile)
c.4354T>A (p.Phe1452Ile)
c.3247T>A (p.Phe1083Ile)
n.1830+5558A>T
c.7273T>A (p.Phe2425Ile)
c.3025T>A (p.Phe1009Ile)
c.6253T>A (p.Phe2085Ile)
8g.99776920T>CCA371875840VPS13Bc.7468T>C (p.Phe2490Leu)
n.7538T>C
c.*3150T>C (n.*3150T>C)
c.7393T>C (p.Phe2465Leu)
n.378-1762T>C
c.7465T>C (p.Phe2489Leu)
c.7390T>C (p.Phe2464Leu)
c.7090T>C (p.Phe2364Leu)
c.4354T>C (p.Phe1452Leu)
c.3247T>C (p.Phe1083Leu)
n.1830+5558A>G
c.7273T>C (p.Phe2425Leu)
c.3025T>C (p.Phe1009Leu)
c.6253T>C (p.Phe2085Leu)
8g.99776920T>GCA371875839VPS13Bc.7468T>G (p.Phe2490Val)
n.7538T>G
c.*3150T>G (n.*3150T>G)
c.7393T>G (p.Phe2465Val)
n.378-1762T>G
c.7465T>G (p.Phe2489Val)
c.7390T>G (p.Phe2464Val)
c.7090T>G (p.Phe2364Val)
c.4354T>G (p.Phe1452Val)
c.3247T>G (p.Phe1083Val)
n.1830+5558A>C
c.7273T>G (p.Phe2425Val)
c.3025T>G (p.Phe1009Val)
c.6253T>G (p.Phe2085Val)
8g.99776921delCA2688068079VPS13Bc.7469del (p.Phe2490SerfsTer10)
n.7539del
c.*3151del (n.*3151del)
c.7394del (p.Phe2465SerfsTer10)
n.378-1761del
c.7466del (p.Phe2489SerfsTer10)
c.7391del (p.Phe2464SerfsTer10)
c.7091del (p.Phe2364SerfsTer10)
c.4355del (p.Phe1452SerfsTer10)
c.3248del (p.Phe1083SerfsTer10)
n.1830+5558del
c.7274del (p.Phe2425SerfsTer10)
c.3026del (p.Phe1009SerfsTer10)
c.6254del (p.Phe2085SerfsTer10)
 gnomAD v4
8g.99776921T>ACA371875842VPS13Bc.7469T>A (p.Phe2490Tyr)
n.7539T>A
c.*3151T>A (n.*3151T>A)
c.7394T>A (p.Phe2465Tyr)
n.378-1761T>A
c.7466T>A (p.Phe2489Tyr)
c.7391T>A (p.Phe2464Tyr)
c.7091T>A (p.Phe2364Tyr)
c.4355T>A (p.Phe1452Tyr)
c.3248T>A (p.Phe1083Tyr)
n.1830+5557A>T
c.7274T>A (p.Phe2425Tyr)
c.3026T>A (p.Phe1009Tyr)
c.6254T>A (p.Phe2085Tyr)
 gnomAD v4
8g.99776921T>CCA371875843VPS13Bc.7469T>C (p.Phe2490Ser)
n.7539T>C
c.*3151T>C (n.*3151T>C)
c.7394T>C (p.Phe2465Ser)
n.378-1761T>C
c.7466T>C (p.Phe2489Ser)
c.7391T>C (p.Phe2464Ser)
c.7091T>C (p.Phe2364Ser)
c.4355T>C (p.Phe1452Ser)
c.3248T>C (p.Phe1083Ser)
n.1830+5557A>G
c.7274T>C (p.Phe2425Ser)
c.3026T>C (p.Phe1009Ser)
c.6254T>C (p.Phe2085Ser)
8g.99776921T>GCA371875844VPS13Bc.7469T>G (p.Phe2490Cys)
n.7539T>G
c.*3151T>G (n.*3151T>G)
c.7394T>G (p.Phe2465Cys)
n.378-1761T>G
c.7466T>G (p.Phe2489Cys)
c.7391T>G (p.Phe2464Cys)
c.7091T>G (p.Phe2364Cys)
c.4355T>G (p.Phe1452Cys)
c.3248T>G (p.Phe1083Cys)
n.1830+5557A>C
c.7274T>G (p.Phe2425Cys)
c.3026T>G (p.Phe1009Cys)
c.6254T>G (p.Phe2085Cys)
8g.99776921_99776922delCA913128138VPS13Bc.7469_7470del (p.Phe2490SerfsTer7)
n.7539_7540del
c.*3151_*3152del (n.*3151_*3152del)
c.7394_7395del (p.Phe2465SerfsTer7)
n.378-1761_378-1760del
c.7466_7467del (p.Phe2489SerfsTer7)
c.7391_7392del (p.Phe2464SerfsTer7)
c.7091_7092del (p.Phe2364SerfsTer7)
c.4355_4356del (p.Phe1452SerfsTer7)
c.3248_3249del (p.Phe1083SerfsTer7)
n.1830+5556_1830+5557del
c.7274_7275del (p.Phe2425SerfsTer7)
c.3026_3027del (p.Phe1009SerfsTer7)
c.6254_6255del (p.Phe2085SerfsTer7)
8g.99776922C>ACA371875845VPS13Bc.7470C>A (p.Phe2490Leu)
n.7540C>A
c.*3152C>A (n.*3152C>A)
c.7395C>A (p.Phe2465Leu)
n.378-1760C>A
c.7467C>A (p.Phe2489Leu)
c.7392C>A (p.Phe2464Leu)
c.7092C>A (p.Phe2364Leu)
c.4356C>A (p.Phe1452Leu)
c.3249C>A (p.Phe1083Leu)
n.1830+5556G>T
c.7275C>A (p.Phe2425Leu)
c.3027C>A (p.Phe1009Leu)
c.6255C>A (p.Phe2085Leu)
8g.99776922C>GCA371875846VPS13Bc.7470C>G (p.Phe2490Leu)
n.7540C>G
c.*3152C>G (n.*3152C>G)
c.7395C>G (p.Phe2465Leu)
n.378-1760C>G
c.7467C>G (p.Phe2489Leu)
c.7392C>G (p.Phe2464Leu)
c.7092C>G (p.Phe2364Leu)
c.4356C>G (p.Phe1452Leu)
c.3249C>G (p.Phe1083Leu)
n.1830+5556G>C
c.7275C>G (p.Phe2425Leu)
c.3027C>G (p.Phe1009Leu)
c.6255C>G (p.Phe2085Leu)
8g.99776922C>TCA462449229VPS13Bc.7470C>T (p.Phe2490=)
n.7540C>T
c.*3152C>T (n.*3152C>T)
c.7395C>T (p.Phe2465=)
n.378-1760C>T
c.7467C>T (p.Phe2489=)
c.7392C>T (p.Phe2464=)
c.7092C>T (p.Phe2364=)
c.4356C>T (p.Phe1452=)
c.3249C>T (p.Phe1083=)
n.1830+5556G>A
c.7275C>T (p.Phe2425=)
c.3027C>T (p.Phe1009=)
c.6255C>T (p.Phe2085=)
 ClinVar dbSNP
8g.99776923delCA658821175VPS13Bc.7471del (p.His2491IlefsTer9)
n.7541del
c.*3153del (n.*3153del)
c.7396del (p.His2466IlefsTer9)
n.378-1759del
c.7468del (p.His2490IlefsTer9)
c.7393del (p.His2465IlefsTer9)
c.7093del (p.His2365IlefsTer9)
c.4357del (p.His1453IlefsTer9)
c.3250del (p.His1084IlefsTer9)
n.1830+5556del
c.7276del (p.His2426IlefsTer9)
c.3028del (p.His1010IlefsTer9)
c.6256del (p.His2086IlefsTer9)
 ClinVar dbSNP
8g.99776923C>ACA371875847VPS13Bc.7471C>A (p.His2491Asn)
n.7541C>A
c.*3153C>A (n.*3153C>A)
c.7396C>A (p.His2466Asn)
n.378-1759C>A
c.7468C>A (p.His2490Asn)
c.7393C>A (p.His2465Asn)
c.7093C>A (p.His2365Asn)
c.4357C>A (p.His1453Asn)
c.3250C>A (p.His1084Asn)
n.1830+5555G>T
c.7276C>A (p.His2426Asn)
c.3028C>A (p.His1010Asn)
c.6256C>A (p.His2086Asn)
8g.99776923C>GCA371875848VPS13Bc.7471C>G (p.His2491Asp)
n.7541C>G
c.*3153C>G (n.*3153C>G)
c.7396C>G (p.His2466Asp)
n.378-1759C>G
c.7468C>G (p.His2490Asp)
c.7393C>G (p.His2465Asp)
c.7093C>G (p.His2365Asp)
c.4357C>G (p.His1453Asp)
c.3250C>G (p.His1084Asp)
n.1830+5555G>C
c.7276C>G (p.His2426Asp)
c.3028C>G (p.His1010Asp)
c.6256C>G (p.His2086Asp)
8g.99776923C>TCA4824205VPS13Bc.7471C>T (p.His2491Tyr)
n.7541C>T
c.*3153C>T (n.*3153C>T)
c.7396C>T (p.His2466Tyr)
n.378-1759C>T
c.7468C>T (p.His2490Tyr)
c.7393C>T (p.His2465Tyr)
c.7093C>T (p.His2365Tyr)
c.4357C>T (p.His1453Tyr)
c.3250C>T (p.His1084Tyr)
n.1830+5555G>A
c.7276C>T (p.His2426Tyr)
c.3028C>T (p.His1010Tyr)
c.6256C>T (p.His2086Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776924A>CCA371875849VPS13Bc.7472A>C (p.His2491Pro)
n.7542A>C
c.*3154A>C (n.*3154A>C)
c.7397A>C (p.His2466Pro)
n.378-1758A>C
c.7469A>C (p.His2490Pro)
c.7394A>C (p.His2465Pro)
c.7094A>C (p.His2365Pro)
c.4358A>C (p.His1453Pro)
c.3251A>C (p.His1084Pro)
n.1830+5554T>G
c.7277A>C (p.His2426Pro)
c.3029A>C (p.His1010Pro)
c.6257A>C (p.His2086Pro)
8g.99776924A>GCA371875850VPS13Bc.7472A>G (p.His2491Arg)
n.7542A>G
c.*3154A>G (n.*3154A>G)
c.7397A>G (p.His2466Arg)
n.378-1758A>G
c.7469A>G (p.His2490Arg)
c.7394A>G (p.His2465Arg)
c.7094A>G (p.His2365Arg)
c.4358A>G (p.His1453Arg)
c.3251A>G (p.His1084Arg)
n.1830+5554T>C
c.7277A>G (p.His2426Arg)
c.3029A>G (p.His1010Arg)
c.6257A>G (p.His2086Arg)
 dbSNP gnomAD v4
8g.99776924A>TCA371875851VPS13Bc.7472A>T (p.His2491Leu)
n.7542A>T
c.*3154A>T (n.*3154A>T)
c.7397A>T (p.His2466Leu)
n.378-1758A>T
c.7469A>T (p.His2490Leu)
c.7394A>T (p.His2465Leu)
c.7094A>T (p.His2365Leu)
c.4358A>T (p.His1453Leu)
c.3251A>T (p.His1084Leu)
n.1830+5554T>A
c.7277A>T (p.His2426Leu)
c.3029A>T (p.His1010Leu)
c.6257A>T (p.His2086Leu)
8g.99776925T>ACA371875852VPS13Bc.7473T>A (p.His2491Gln)
n.7543T>A
c.*3155T>A (n.*3155T>A)
c.7398T>A (p.His2466Gln)
n.378-1757T>A
c.7470T>A (p.His2490Gln)
c.7395T>A (p.His2465Gln)
c.7095T>A (p.His2365Gln)
c.4359T>A (p.His1453Gln)
c.3252T>A (p.His1084Gln)
n.1830+5553A>T
c.7278T>A (p.His2426Gln)
c.3030T>A (p.His1010Gln)
c.6258T>A (p.His2086Gln)
8g.99776925T>CCA462449230VPS13Bc.7473T>C (p.His2491=)
n.7543T>C
c.*3155T>C (n.*3155T>C)
c.7398T>C (p.His2466=)
n.378-1757T>C
c.7470T>C (p.His2490=)
c.7395T>C (p.His2465=)
c.7095T>C (p.His2365=)
c.4359T>C (p.His1453=)
c.3252T>C (p.His1084=)
n.1830+5553A>G
c.7278T>C (p.His2426=)
c.3030T>C (p.His1010=)
c.6258T>C (p.His2086=)
8g.99776925T>GCA371875853VPS13Bc.7473T>G (p.His2491Gln)
n.7543T>G
c.*3155T>G (n.*3155T>G)
c.7398T>G (p.His2466Gln)
n.378-1757T>G
c.7470T>G (p.His2490Gln)
c.7395T>G (p.His2465Gln)
c.7095T>G (p.His2365Gln)
c.4359T>G (p.His1453Gln)
c.3252T>G (p.His1084Gln)
n.1830+5553A>C
c.7278T>G (p.His2426Gln)
c.3030T>G (p.His1010Gln)
c.6258T>G (p.His2086Gln)
8g.99776926C>ACA371875855VPS13Bc.7474C>A (p.Leu2492Ile)
n.7544C>A
c.*3156C>A (n.*3156C>A)
c.7399C>A (p.Leu2467Ile)
n.378-1756C>A
c.7471C>A (p.Leu2491Ile)
c.7396C>A (p.Leu2466Ile)
c.7096C>A (p.Leu2366Ile)
c.4360C>A (p.Leu1454Ile)
c.3253C>A (p.Leu1085Ile)
n.1830+5552G>T
c.7279C>A (p.Leu2427Ile)
c.3031C>A (p.Leu1011Ile)
c.6259C>A (p.Leu2087Ile)
 dbSNP
8g.99776926C>GCA371875856VPS13Bc.7474C>G (p.Leu2492Val)
n.7544C>G
c.*3156C>G (n.*3156C>G)
c.7399C>G (p.Leu2467Val)
n.378-1756C>G
c.7471C>G (p.Leu2491Val)
c.7396C>G (p.Leu2466Val)
c.7096C>G (p.Leu2366Val)
c.4360C>G (p.Leu1454Val)
c.3253C>G (p.Leu1085Val)
n.1830+5552G>C
c.7279C>G (p.Leu2427Val)
c.3031C>G (p.Leu1011Val)
c.6259C>G (p.Leu2087Val)
8g.99776926C>TCA371875854VPS13Bc.7474C>T (p.Leu2492Phe)
n.7544C>T
c.*3156C>T (n.*3156C>T)
c.7399C>T (p.Leu2467Phe)
n.378-1756C>T
c.7471C>T (p.Leu2491Phe)
c.7396C>T (p.Leu2466Phe)
c.7096C>T (p.Leu2366Phe)
c.4360C>T (p.Leu1454Phe)
c.3253C>T (p.Leu1085Phe)
n.1830+5552G>A
c.7279C>T (p.Leu2427Phe)
c.3031C>T (p.Leu1011Phe)
c.6259C>T (p.Leu2087Phe)
8g.99776927T>ACA371875858VPS13Bc.7475T>A (p.Leu2492His)
n.7545T>A
c.*3157T>A (n.*3157T>A)
c.7400T>A (p.Leu2467His)
n.378-1755T>A
c.7472T>A (p.Leu2491His)
c.7397T>A (p.Leu2466His)
c.7097T>A (p.Leu2366His)
c.4361T>A (p.Leu1454His)
c.3254T>A (p.Leu1085His)
n.1830+5551A>T
c.7280T>A (p.Leu2427His)
c.3032T>A (p.Leu1011His)
c.6260T>A (p.Leu2087His)
8g.99776927T>CCA371875857VPS13Bc.7475T>C (p.Leu2492Pro)
n.7545T>C
c.*3157T>C (n.*3157T>C)
c.7400T>C (p.Leu2467Pro)
n.378-1755T>C
c.7472T>C (p.Leu2491Pro)
c.7397T>C (p.Leu2466Pro)
c.7097T>C (p.Leu2366Pro)
c.4361T>C (p.Leu1454Pro)
c.3254T>C (p.Leu1085Pro)
n.1830+5551A>G
c.7280T>C (p.Leu2427Pro)
c.3032T>C (p.Leu1011Pro)
c.6260T>C (p.Leu2087Pro)
8g.99776927T>GCA371875859VPS13Bc.7475T>G (p.Leu2492Arg)
n.7545T>G
c.*3157T>G (n.*3157T>G)
c.7400T>G (p.Leu2467Arg)
n.378-1755T>G
c.7472T>G (p.Leu2491Arg)
c.7397T>G (p.Leu2466Arg)
c.7097T>G (p.Leu2366Arg)
c.4361T>G (p.Leu1454Arg)
c.3254T>G (p.Leu1085Arg)
n.1830+5551A>C
c.7280T>G (p.Leu2427Arg)
c.3032T>G (p.Leu1011Arg)
c.6260T>G (p.Leu2087Arg)
8g.99776928T>ACA462449231VPS13Bc.7476T>A (p.Leu2492=)
n.7546T>A
c.*3158T>A (n.*3158T>A)
c.7401T>A (p.Leu2467=)
n.378-1754T>A
c.7473T>A (p.Leu2491=)
c.7398T>A (p.Leu2466=)
c.7098T>A (p.Leu2366=)
c.4362T>A (p.Leu1454=)
c.3255T>A (p.Leu1085=)
n.1830+5550A>T
c.7281T>A (p.Leu2427=)
c.3033T>A (p.Leu1011=)
c.6261T>A (p.Leu2087=)
8g.99776928T>CCA462449232VPS13Bc.7476T>C (p.Leu2492=)
n.7546T>C
c.*3158T>C (n.*3158T>C)
c.7401T>C (p.Leu2467=)
n.378-1754T>C
c.7473T>C (p.Leu2491=)
c.7398T>C (p.Leu2466=)
c.7098T>C (p.Leu2366=)
c.4362T>C (p.Leu1454=)
c.3255T>C (p.Leu1085=)
n.1830+5550A>G
c.7281T>C (p.Leu2427=)
c.3033T>C (p.Leu1011=)
c.6261T>C (p.Leu2087=)
8g.99776928T>GCA462449233VPS13Bc.7476T>G (p.Leu2492=)
n.7546T>G
c.*3158T>G (n.*3158T>G)
c.7401T>G (p.Leu2467=)
n.378-1754T>G
c.7473T>G (p.Leu2491=)
c.7398T>G (p.Leu2466=)
c.7098T>G (p.Leu2366=)
c.4362T>G (p.Leu1454=)
c.3255T>G (p.Leu1085=)
n.1830+5550A>C
c.7281T>G (p.Leu2427=)
c.3033T>G (p.Leu1011=)
c.6261T>G (p.Leu2087=)
8g.99776929T>ACA371875860VPS13Bc.7477T>A (p.Cys2493Ser)
n.7547T>A
c.*3159T>A (n.*3159T>A)
c.7402T>A (p.Cys2468Ser)
n.378-1753T>A
c.7474T>A (p.Cys2492Ser)
c.7399T>A (p.Cys2467Ser)
c.7099T>A (p.Cys2367Ser)
c.4363T>A (p.Cys1455Ser)
c.3256T>A (p.Cys1086Ser)
n.1830+5549A>T
c.7282T>A (p.Cys2428Ser)
c.3034T>A (p.Cys1012Ser)
c.6262T>A (p.Cys2088Ser)
8g.99776929T>CCA371875862VPS13Bc.7477T>C (p.Cys2493Arg)
n.7547T>C
c.*3159T>C (n.*3159T>C)
c.7402T>C (p.Cys2468Arg)
n.378-1753T>C
c.7474T>C (p.Cys2492Arg)
c.7399T>C (p.Cys2467Arg)
c.7099T>C (p.Cys2367Arg)
c.4363T>C (p.Cys1455Arg)
c.3256T>C (p.Cys1086Arg)
n.1830+5549A>G
c.7282T>C (p.Cys2428Arg)
c.3034T>C (p.Cys1012Arg)
c.6262T>C (p.Cys2088Arg)
8g.99776929T>GCA371875861VPS13Bc.7477T>G (p.Cys2493Gly)
n.7547T>G
c.*3159T>G (n.*3159T>G)
c.7402T>G (p.Cys2468Gly)
n.378-1753T>G
c.7474T>G (p.Cys2492Gly)
c.7399T>G (p.Cys2467Gly)
c.7099T>G (p.Cys2367Gly)
c.4363T>G (p.Cys1455Gly)
c.3256T>G (p.Cys1086Gly)
n.1830+5549A>C
c.7282T>G (p.Cys2428Gly)
c.3034T>G (p.Cys1012Gly)
c.6262T>G (p.Cys2088Gly)
8g.99776930G>ACA371875863VPS13Bc.7478G>A (p.Cys2493Tyr)
n.7548G>A
c.*3160G>A (n.*3160G>A)
c.7403G>A (p.Cys2468Tyr)
n.378-1752G>A
c.7475G>A (p.Cys2492Tyr)
c.7400G>A (p.Cys2467Tyr)
c.7100G>A (p.Cys2367Tyr)
c.4364G>A (p.Cys1455Tyr)
c.3257G>A (p.Cys1086Tyr)
n.1830+5548C>T
c.7283G>A (p.Cys2428Tyr)
c.3035G>A (p.Cys1012Tyr)
c.6263G>A (p.Cys2088Tyr)
8g.99776930G>CCA371875865VPS13Bc.7478G>C (p.Cys2493Ser)
n.7548G>C
c.*3160G>C (n.*3160G>C)
c.7403G>C (p.Cys2468Ser)
n.378-1752G>C
c.7475G>C (p.Cys2492Ser)
c.7400G>C (p.Cys2467Ser)
c.7100G>C (p.Cys2367Ser)
c.4364G>C (p.Cys1455Ser)
c.3257G>C (p.Cys1086Ser)
n.1830+5548C>G
c.7283G>C (p.Cys2428Ser)
c.3035G>C (p.Cys1012Ser)
c.6263G>C (p.Cys2088Ser)
8g.99776930G>TCA371875864VPS13Bc.7478G>T (p.Cys2493Phe)
n.7548G>T
c.*3160G>T (n.*3160G>T)
c.7403G>T (p.Cys2468Phe)
n.378-1752G>T
c.7475G>T (p.Cys2492Phe)
c.7400G>T (p.Cys2467Phe)
c.7100G>T (p.Cys2367Phe)
c.4364G>T (p.Cys1455Phe)
c.3257G>T (p.Cys1086Phe)
n.1830+5548C>A
c.7283G>T (p.Cys2428Phe)
c.3035G>T (p.Cys1012Phe)
c.6263G>T (p.Cys2088Phe)
 gnomAD v4
8g.99776931T>ACA371875866VPS13Bc.7479T>A (p.Cys2493Ter)
n.7549T>A
c.*3161T>A (n.*3161T>A)
c.7404T>A (p.Cys2468Ter)
n.378-1751T>A
c.7476T>A (p.Cys2492Ter)
c.7401T>A (p.Cys2467Ter)
c.7101T>A (p.Cys2367Ter)
c.4365T>A (p.Cys1455Ter)
c.3258T>A (p.Cys1086Ter)
n.1830+5547A>T
c.7284T>A (p.Cys2428Ter)
c.3036T>A (p.Cys1012Ter)
c.6264T>A (p.Cys2088Ter)
8g.99776931T>CCA462449234VPS13Bc.7479T>C (p.Cys2493=)
n.7549T>C
c.*3161T>C (n.*3161T>C)
c.7404T>C (p.Cys2468=)
n.378-1751T>C
c.7476T>C (p.Cys2492=)
c.7401T>C (p.Cys2467=)
c.7101T>C (p.Cys2367=)
c.4365T>C (p.Cys1455=)
c.3258T>C (p.Cys1086=)
n.1830+5547A>G
c.7284T>C (p.Cys2428=)
c.3036T>C (p.Cys1012=)
c.6264T>C (p.Cys2088=)
 dbSNP gnomAD v2 gnomAD v4
8g.99776931T>GCA371875867VPS13Bc.7479T>G (p.Cys2493Trp)
n.7549T>G
c.*3161T>G (n.*3161T>G)
c.7404T>G (p.Cys2468Trp)
n.378-1751T>G
c.7476T>G (p.Cys2492Trp)
c.7401T>G (p.Cys2467Trp)
c.7101T>G (p.Cys2367Trp)
c.4365T>G (p.Cys1455Trp)
c.3258T>G (p.Cys1086Trp)
n.1830+5547A>C
c.7284T>G (p.Cys2428Trp)
c.3036T>G (p.Cys1012Trp)
c.6264T>G (p.Cys2088Trp)
8g.99776932C>ACA371875868VPS13Bc.7480C>A (p.His2494Asn)
n.7550C>A
c.*3162C>A (n.*3162C>A)
c.7405C>A (p.His2469Asn)
n.378-1750C>A
c.7477C>A (p.His2493Asn)
c.7402C>A (p.His2468Asn)
c.7102C>A (p.His2368Asn)
c.4366C>A (p.His1456Asn)
c.3259C>A (p.His1087Asn)
n.1830+5546G>T
c.7285C>A (p.His2429Asn)
c.3037C>A (p.His1013Asn)
c.6265C>A (p.His2089Asn)
8g.99776932C>GCA371875869VPS13Bc.7480C>G (p.His2494Asp)
n.7550C>G
c.*3162C>G (n.*3162C>G)
c.7405C>G (p.His2469Asp)
n.378-1750C>G
c.7477C>G (p.His2493Asp)
c.7402C>G (p.His2468Asp)
c.7102C>G (p.His2368Asp)
c.4366C>G (p.His1456Asp)
c.3259C>G (p.His1087Asp)
n.1830+5546G>C
c.7285C>G (p.His2429Asp)
c.3037C>G (p.His1013Asp)
c.6265C>G (p.His2089Asp)
8g.99776932C>TCA371875870VPS13Bc.7480C>T (p.His2494Tyr)
n.7550C>T
c.*3162C>T (n.*3162C>T)
c.7405C>T (p.His2469Tyr)
n.378-1750C>T
c.7477C>T (p.His2493Tyr)
c.7402C>T (p.His2468Tyr)
c.7102C>T (p.His2368Tyr)
c.4366C>T (p.His1456Tyr)
c.3259C>T (p.His1087Tyr)
n.1830+5546G>A
c.7285C>T (p.His2429Tyr)
c.3037C>T (p.His1013Tyr)
c.6265C>T (p.His2089Tyr)
8g.99776933A>CCA371875871VPS13Bc.7481A>C (p.His2494Pro)
n.7551A>C
c.*3163A>C (n.*3163A>C)
c.7406A>C (p.His2469Pro)
n.378-1749A>C
c.7478A>C (p.His2493Pro)
c.7403A>C (p.His2468Pro)
c.7103A>C (p.His2368Pro)
c.4367A>C (p.His1456Pro)
c.3260A>C (p.His1087Pro)
n.1830+5545T>G
c.7286A>C (p.His2429Pro)
c.3038A>C (p.His1013Pro)
c.6266A>C (p.His2089Pro)
8g.99776933A>GCA371875872VPS13Bc.7481A>G (p.His2494Arg)
n.7551A>G
c.*3163A>G (n.*3163A>G)
c.7406A>G (p.His2469Arg)
n.378-1749A>G
c.7478A>G (p.His2493Arg)
c.7403A>G (p.His2468Arg)
c.7103A>G (p.His2368Arg)
c.4367A>G (p.His1456Arg)
c.3260A>G (p.His1087Arg)
n.1830+5545T>C
c.7286A>G (p.His2429Arg)
c.3038A>G (p.His1013Arg)
c.6266A>G (p.His2089Arg)
 ClinVar
8g.99776933A>TCA371875873VPS13Bc.7481A>T (p.His2494Leu)
n.7551A>T
c.*3163A>T (n.*3163A>T)
c.7406A>T (p.His2469Leu)
n.378-1749A>T
c.7478A>T (p.His2493Leu)
c.7403A>T (p.His2468Leu)
c.7103A>T (p.His2368Leu)
c.4367A>T (p.His1456Leu)
c.3260A>T (p.His1087Leu)
n.1830+5545T>A
c.7286A>T (p.His2429Leu)
c.3038A>T (p.His1013Leu)
c.6266A>T (p.His2089Leu)
8g.99776934T>ACA371875874VPS13Bc.7482T>A (p.His2494Gln)
n.7552T>A
c.*3164T>A (n.*3164T>A)
c.7407T>A (p.His2469Gln)
n.378-1748T>A
c.7479T>A (p.His2493Gln)
c.7404T>A (p.His2468Gln)
c.7104T>A (p.His2368Gln)
c.4368T>A (p.His1456Gln)
c.3261T>A (p.His1087Gln)
n.1830+5544A>T
c.7287T>A (p.His2429Gln)
c.3039T>A (p.His1013Gln)
c.6267T>A (p.His2089Gln)
8g.99776934T>CCA462449235VPS13Bc.7482T>C (p.His2494=)
n.7552T>C
c.*3164T>C (n.*3164T>C)
c.7407T>C (p.His2469=)
n.378-1748T>C
c.7479T>C (p.His2493=)
c.7404T>C (p.His2468=)
c.7104T>C (p.His2368=)
c.4368T>C (p.His1456=)
c.3261T>C (p.His1087=)
n.1830+5544A>G
c.7287T>C (p.His2429=)
c.3039T>C (p.His1013=)
c.6267T>C (p.His2089=)
 gnomAD v4
8g.99776934T>GCA371875875VPS13Bc.7482T>G (p.His2494Gln)
n.7552T>G
c.*3164T>G (n.*3164T>G)
c.7407T>G (p.His2469Gln)
n.378-1748T>G
c.7479T>G (p.His2493Gln)
c.7404T>G (p.His2468Gln)
c.7104T>G (p.His2368Gln)
c.4368T>G (p.His1456Gln)
c.3261T>G (p.His1087Gln)
n.1830+5544A>C
c.7287T>G (p.His2429Gln)
c.3039T>G (p.His1013Gln)
c.6267T>G (p.His2089Gln)
8g.99776935C>ACA371875876VPS13Bc.7483C>A (p.His2495Asn)
n.7553C>A
c.*3165C>A (n.*3165C>A)
c.7408C>A (p.His2470Asn)
n.378-1747C>A
c.7480C>A (p.His2494Asn)
c.7405C>A (p.His2469Asn)
c.7105C>A (p.His2369Asn)
c.4369C>A (p.His1457Asn)
c.3262C>A (p.His1088Asn)
n.1830+5543G>T
c.7288C>A (p.His2430Asn)
c.3040C>A (p.His1014Asn)
c.6268C>A (p.His2090Asn)
8g.99776935C>GCA371875877VPS13Bc.7483C>G (p.His2495Asp)
n.7553C>G
c.*3165C>G (n.*3165C>G)
c.7408C>G (p.His2470Asp)
n.378-1747C>G
c.7480C>G (p.His2494Asp)
c.7405C>G (p.His2469Asp)
c.7105C>G (p.His2369Asp)
c.4369C>G (p.His1457Asp)
c.3262C>G (p.His1088Asp)
n.1830+5543G>C
c.7288C>G (p.His2430Asp)
c.3040C>G (p.His1014Asp)
c.6268C>G (p.His2090Asp)
8g.99776935C>TCA371875878VPS13Bc.7483C>T (p.His2495Tyr)
n.7553C>T
c.*3165C>T (n.*3165C>T)
c.7408C>T (p.His2470Tyr)
n.378-1747C>T
c.7480C>T (p.His2494Tyr)
c.7405C>T (p.His2469Tyr)
c.7105C>T (p.His2369Tyr)
c.4369C>T (p.His1457Tyr)
c.3262C>T (p.His1088Tyr)
n.1830+5543G>A
c.7288C>T (p.His2430Tyr)
c.3040C>T (p.His1014Tyr)
c.6268C>T (p.His2090Tyr)
 COSMIC COSMIC
8g.99776936A>CCA371875879VPS13Bc.7484A>C (p.His2495Pro)
n.7554A>C
c.*3166A>C (n.*3166A>C)
c.7409A>C (p.His2470Pro)
n.378-1746A>C
c.7481A>C (p.His2494Pro)
c.7406A>C (p.His2469Pro)
c.7106A>C (p.His2369Pro)
c.4370A>C (p.His1457Pro)
c.3263A>C (p.His1088Pro)
n.1830+5542T>G
c.7289A>C (p.His2430Pro)
c.3041A>C (p.His1014Pro)
c.6269A>C (p.His2090Pro)
8g.99776936A>GCA371875880VPS13Bc.7484A>G (p.His2495Arg)
n.7554A>G
c.*3166A>G (n.*3166A>G)
c.7409A>G (p.His2470Arg)
n.378-1746A>G
c.7481A>G (p.His2494Arg)
c.7406A>G (p.His2469Arg)
c.7106A>G (p.His2369Arg)
c.4370A>G (p.His1457Arg)
c.3263A>G (p.His1088Arg)
n.1830+5542T>C
c.7289A>G (p.His2430Arg)
c.3041A>G (p.His1014Arg)
c.6269A>G (p.His2090Arg)
8g.99776936A>TCA371875881VPS13Bc.7484A>T (p.His2495Leu)
n.7554A>T
c.*3166A>T (n.*3166A>T)
c.7409A>T (p.His2470Leu)
n.378-1746A>T
c.7481A>T (p.His2494Leu)
c.7406A>T (p.His2469Leu)
c.7106A>T (p.His2369Leu)
c.4370A>T (p.His1457Leu)
c.3263A>T (p.His1088Leu)
n.1830+5542T>A
c.7289A>T (p.His2430Leu)
c.3041A>T (p.His1014Leu)
c.6269A>T (p.His2090Leu)
8g.99776937C>ACA371875882VPS13Bc.7485C>A (p.His2495Gln)
n.7555C>A
c.*3167C>A (n.*3167C>A)
c.7410C>A (p.His2470Gln)
n.378-1745C>A
c.7482C>A (p.His2494Gln)
c.7407C>A (p.His2469Gln)
c.7107C>A (p.His2369Gln)
c.4371C>A (p.His1457Gln)
c.3264C>A (p.His1088Gln)
n.1830+5541G>T
c.7290C>A (p.His2430Gln)
c.3042C>A (p.His1014Gln)
c.6270C>A (p.His2090Gln)
8g.99776937C>GCA4824206VPS13Bc.7485C>G (p.His2495Gln)
n.7555C>G
c.*3167C>G (n.*3167C>G)
c.7410C>G (p.His2470Gln)
n.378-1745C>G
c.7482C>G (p.His2494Gln)
c.7407C>G (p.His2469Gln)
c.7107C>G (p.His2369Gln)
c.4371C>G (p.His1457Gln)
c.3264C>G (p.His1088Gln)
n.1830+5541G>C
c.7290C>G (p.His2430Gln)
c.3042C>G (p.His1014Gln)
c.6270C>G (p.His2090Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776937C>TCA462449236VPS13Bc.7485C>T (p.His2495=)
n.7555C>T
c.*3167C>T (n.*3167C>T)
c.7410C>T (p.His2470=)
n.378-1745C>T
c.7482C>T (p.His2494=)
c.7407C>T (p.His2469=)
c.7107C>T (p.His2369=)
c.4371C>T (p.His1457=)
c.3264C>T (p.His1088=)
n.1830+5541G>A
c.7290C>T (p.His2430=)
c.3042C>T (p.His1014=)
c.6270C>T (p.His2090=)
 ClinVar gnomAD v4
8g.99776938C>ACA371875883VPS13Bc.7486C>A (p.Leu2496Ile)
n.7556C>A
c.*3168C>A (n.*3168C>A)
c.7411C>A (p.Leu2471Ile)
n.378-1744C>A
c.7483C>A (p.Leu2495Ile)
c.7408C>A (p.Leu2470Ile)
c.7108C>A (p.Leu2370Ile)
c.4372C>A (p.Leu1458Ile)
c.3265C>A (p.Leu1089Ile)
n.1830+5540G>T
c.7291C>A (p.Leu2431Ile)
c.3043C>A (p.Leu1015Ile)
c.6271C>A (p.Leu2091Ile)
 COSMIC COSMIC
8g.99776938C>GCA4824207VPS13Bc.7486C>G (p.Leu2496Val)
n.7556C>G
c.*3168C>G (n.*3168C>G)
c.7411C>G (p.Leu2471Val)
n.378-1744C>G
c.7483C>G (p.Leu2495Val)
c.7408C>G (p.Leu2470Val)
c.7108C>G (p.Leu2370Val)
c.4372C>G (p.Leu1458Val)
c.3265C>G (p.Leu1089Val)
n.1830+5540G>C
c.7291C>G (p.Leu2431Val)
c.3043C>G (p.Leu1015Val)
c.6271C>G (p.Leu2091Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.99776938C>TCA371875884VPS13Bc.7486C>T (p.Leu2496Phe)
n.7556C>T
c.*3168C>T (n.*3168C>T)
c.7411C>T (p.Leu2471Phe)
n.378-1744C>T
c.7483C>T (p.Leu2495Phe)
c.7408C>T (p.Leu2470Phe)
c.7108C>T (p.Leu2370Phe)
c.4372C>T (p.Leu1458Phe)
c.3265C>T (p.Leu1089Phe)
n.1830+5540G>A
c.7291C>T (p.Leu2431Phe)
c.3043C>T (p.Leu1015Phe)
c.6271C>T (p.Leu2091Phe)
8g.99776939T>ACA371875885VPS13Bc.7487T>A (p.Leu2496His)
n.7557T>A
c.*3169T>A (n.*3169T>A)
c.7412T>A (p.Leu2471His)
n.378-1743T>A
c.7484T>A (p.Leu2495His)
c.7409T>A (p.Leu2470His)
c.7109T>A (p.Leu2370His)
c.4373T>A (p.Leu1458His)
c.3266T>A (p.Leu1089His)
n.1830+5539A>T
c.7292T>A (p.Leu2431His)
c.3044T>A (p.Leu1015His)
c.6272T>A (p.Leu2091His)
8g.99776939T>CCA371875886VPS13Bc.7487T>C (p.Leu2496Pro)
n.7557T>C
c.*3169T>C (n.*3169T>C)
c.7412T>C (p.Leu2471Pro)
n.378-1743T>C
c.7484T>C (p.Leu2495Pro)
c.7409T>C (p.Leu2470Pro)
c.7109T>C (p.Leu2370Pro)
c.4373T>C (p.Leu1458Pro)
c.3266T>C (p.Leu1089Pro)
n.1830+5539A>G
c.7292T>C (p.Leu2431Pro)
c.3044T>C (p.Leu1015Pro)
c.6272T>C (p.Leu2091Pro)
 gnomAD v4
8g.99776939T>GCA371875887VPS13Bc.7487T>G (p.Leu2496Arg)
n.7557T>G
c.*3169T>G (n.*3169T>G)
c.7412T>G (p.Leu2471Arg)
n.378-1743T>G
c.7484T>G (p.Leu2495Arg)
c.7409T>G (p.Leu2470Arg)
c.7109T>G (p.Leu2370Arg)
c.4373T>G (p.Leu1458Arg)
c.3266T>G (p.Leu1089Arg)
n.1830+5539A>C
c.7292T>G (p.Leu2431Arg)
c.3044T>G (p.Leu1015Arg)
c.6272T>G (p.Leu2091Arg)
8g.99776940T>ACA462449237VPS13Bc.7488T>A (p.Leu2496=)
n.7558T>A
c.*3170T>A (n.*3170T>A)
c.7413T>A (p.Leu2471=)
n.378-1742T>A
c.7485T>A (p.Leu2495=)
c.7410T>A (p.Leu2470=)
c.7110T>A (p.Leu2370=)
c.4374T>A (p.Leu1458=)
c.3267T>A (p.Leu1089=)
n.1830+5538A>T
c.7293T>A (p.Leu2431=)
c.3045T>A (p.Leu1015=)
c.6273T>A (p.Leu2091=)
8g.99776940T>CCA462449238VPS13Bc.7488T>C (p.Leu2496=)
n.7558T>C
c.*3170T>C (n.*3170T>C)
c.7413T>C (p.Leu2471=)
n.378-1742T>C
c.7485T>C (p.Leu2495=)
c.7410T>C (p.Leu2470=)
c.7110T>C (p.Leu2370=)
c.4374T>C (p.Leu1458=)
c.3267T>C (p.Leu1089=)
n.1830+5538A>G
c.7293T>C (p.Leu2431=)
c.3045T>C (p.Leu1015=)
c.6273T>C (p.Leu2091=)
8g.99776940T>GCA462449239VPS13Bc.7488T>G (p.Leu2496=)
n.7558T>G
c.*3170T>G (n.*3170T>G)
c.7413T>G (p.Leu2471=)
n.378-1742T>G
c.7485T>G (p.Leu2495=)
c.7410T>G (p.Leu2470=)
c.7110T>G (p.Leu2370=)
c.4374T>G (p.Leu1458=)
c.3267T>G (p.Leu1089=)
n.1830+5538A>C
c.7293T>G (p.Leu2431=)
c.3045T>G (p.Leu1015=)
c.6273T>G (p.Leu2091=)
8g.99776941G>ACA371875888VPS13Bc.7489G>A (p.Asp2497Asn)
n.7559G>A
c.*3171G>A (n.*3171G>A)
c.7414G>A (p.Asp2472Asn)
n.378-1741G>A
c.7486G>A (p.Asp2496Asn)
c.7411G>A (p.Asp2471Asn)
c.7111G>A (p.Asp2371Asn)
c.4375G>A (p.Asp1459Asn)
c.3268G>A (p.Asp1090Asn)
n.1830+5537C>T
c.7294G>A (p.Asp2432Asn)
c.3046G>A (p.Asp1016Asn)
c.6274G>A (p.Asp2092Asn)
 dbSNP gnomAD v4
8g.99776941G>CCA371875889VPS13Bc.7489G>C (p.Asp2497His)
n.7559G>C
c.*3171G>C (n.*3171G>C)
c.7414G>C (p.Asp2472His)
n.378-1741G>C
c.7486G>C (p.Asp2496His)
c.7411G>C (p.Asp2471His)
c.7111G>C (p.Asp2371His)
c.4375G>C (p.Asp1459His)
c.3268G>C (p.Asp1090His)
n.1830+5537C>G
c.7294G>C (p.Asp2432His)
c.3046G>C (p.Asp1016His)
c.6274G>C (p.Asp2092His)
8g.99776941G>TCA371875890VPS13Bc.7489G>T (p.Asp2497Tyr)
n.7559G>T
c.*3171G>T (n.*3171G>T)
c.7414G>T (p.Asp2472Tyr)
n.378-1741G>T
c.7486G>T (p.Asp2496Tyr)
c.7411G>T (p.Asp2471Tyr)
c.7111G>T (p.Asp2371Tyr)
c.4375G>T (p.Asp1459Tyr)
c.3268G>T (p.Asp1090Tyr)
n.1830+5537C>A
c.7294G>T (p.Asp2432Tyr)
c.3046G>T (p.Asp1016Tyr)
c.6274G>T (p.Asp2092Tyr)
 gnomAD v4
8g.99776942A>CCA371875891VPS13Bc.7490A>C (p.Asp2497Ala)
n.7560A>C
c.*3172A>C (n.*3172A>C)
c.7415A>C (p.Asp2472Ala)
n.378-1740A>C
c.7487A>C (p.Asp2496Ala)
c.7412A>C (p.Asp2471Ala)
c.7112A>C (p.Asp2371Ala)
c.4376A>C (p.Asp1459Ala)
c.3269A>C (p.Asp1090Ala)
n.1830+5536T>G
c.7295A>C (p.Asp2432Ala)
c.3047A>C (p.Asp1016Ala)
c.6275A>C (p.Asp2092Ala)
8g.99776942A>GCA371875892VPS13Bc.7490A>G (p.Asp2497Gly)
n.7560A>G
c.*3172A>G (n.*3172A>G)
c.7415A>G (p.Asp2472Gly)
n.378-1740A>G
c.7487A>G (p.Asp2496Gly)
c.7412A>G (p.Asp2471Gly)
c.7112A>G (p.Asp2371Gly)
c.4376A>G (p.Asp1459Gly)
c.3269A>G (p.Asp1090Gly)
n.1830+5536T>C
c.7295A>G (p.Asp2432Gly)
c.3047A>G (p.Asp1016Gly)
c.6275A>G (p.Asp2092Gly)
8g.99776942A>TCA371875893VPS13Bc.7490A>T (p.Asp2497Val)
n.7560A>T
c.*3172A>T (n.*3172A>T)
c.7415A>T (p.Asp2472Val)
n.378-1740A>T
c.7487A>T (p.Asp2496Val)
c.7412A>T (p.Asp2471Val)
c.7112A>T (p.Asp2371Val)
c.4376A>T (p.Asp1459Val)
c.3269A>T (p.Asp1090Val)
n.1830+5536T>A
c.7295A>T (p.Asp2432Val)
c.3047A>T (p.Asp1016Val)
c.6275A>T (p.Asp2092Val)
8g.99776943C>ACA371875895VPS13Bc.7491C>A (p.Asp2497Glu)
n.7561C>A
c.*3173C>A (n.*3173C>A)
c.7416C>A (p.Asp2472Glu)
n.378-1739C>A
c.7488C>A (p.Asp2496Glu)
c.7413C>A (p.Asp2471Glu)
c.7113C>A (p.Asp2371Glu)
c.4377C>A (p.Asp1459Glu)
c.3270C>A (p.Asp1090Glu)
n.1830+5535G>T
c.7296C>A (p.Asp2432Glu)
c.3048C>A (p.Asp1016Glu)
c.6276C>A (p.Asp2092Glu)
8g.99776943C>GCA371875894VPS13Bc.7491C>G (p.Asp2497Glu)
n.7561C>G
c.*3173C>G (n.*3173C>G)
c.7416C>G (p.Asp2472Glu)
n.378-1739C>G
c.7488C>G (p.Asp2496Glu)
c.7413C>G (p.Asp2471Glu)
c.7113C>G (p.Asp2371Glu)
c.4377C>G (p.Asp1459Glu)
c.3270C>G (p.Asp1090Glu)
n.1830+5535G>C
c.7296C>G (p.Asp2432Glu)
c.3048C>G (p.Asp1016Glu)
c.6276C>G (p.Asp2092Glu)
8g.99776943C>TCA462449240VPS13Bc.7491C>T (p.Asp2497=)
n.7561C>T
c.*3173C>T (n.*3173C>T)
c.7416C>T (p.Asp2472=)
n.378-1739C>T
c.7488C>T (p.Asp2496=)
c.7413C>T (p.Asp2471=)
c.7113C>T (p.Asp2371=)
c.4377C>T (p.Asp1459=)
c.3270C>T (p.Asp1090=)
n.1830+5535G>A
c.7296C>T (p.Asp2432=)
c.3048C>T (p.Asp1016=)
c.6276C>T (p.Asp2092=)
 ClinVar
8g.99776944C>ACA371875896VPS13Bc.7492C>A (p.Gln2498Lys)
n.7562C>A
c.*3174C>A (n.*3174C>A)
c.7417C>A (p.Gln2473Lys)
n.378-1738C>A
c.7489C>A (p.Gln2497Lys)
c.7414C>A (p.Gln2472Lys)
c.7114C>A (p.Gln2372Lys)
c.4378C>A (p.Gln1460Lys)
c.3271C>A (p.Gln1091Lys)
n.1830+5534G>T
c.7297C>A (p.Gln2433Lys)
c.3049C>A (p.Gln1017Lys)
c.6277C>A (p.Gln2093Lys)
8g.99776944C>GCA371875897VPS13Bc.7492C>G (p.Gln2498Glu)
n.7562C>G
c.*3174C>G (n.*3174C>G)
c.7417C>G (p.Gln2473Glu)
n.378-1738C>G
c.7489C>G (p.Gln2497Glu)
c.7414C>G (p.Gln2472Glu)
c.7114C>G (p.Gln2372Glu)
c.4378C>G (p.Gln1460Glu)
c.3271C>G (p.Gln1091Glu)
n.1830+5534G>C
c.7297C>G (p.Gln2433Glu)
c.3049C>G (p.Gln1017Glu)
c.6277C>G (p.Gln2093Glu)
 gnomAD v4
8g.99776944C>TCA371875898VPS13Bc.7492C>T (p.Gln2498Ter)
n.7562C>T
c.*3174C>T (n.*3174C>T)
c.7417C>T (p.Gln2473Ter)
n.378-1738C>T
c.7489C>T (p.Gln2497Ter)
c.7414C>T (p.Gln2472Ter)
c.7114C>T (p.Gln2372Ter)
c.4378C>T (p.Gln1460Ter)
c.3271C>T (p.Gln1091Ter)
n.1830+5534G>A
c.7297C>T (p.Gln2433Ter)
c.3049C>T (p.Gln1017Ter)
c.6277C>T (p.Gln2093Ter)
8g.99776945A>CCA371875899VPS13Bc.7493A>C (p.Gln2498Pro)
n.7563A>C
c.*3175A>C (n.*3175A>C)
c.7418A>C (p.Gln2473Pro)
n.378-1737A>C
c.7490A>C (p.Gln2497Pro)
c.7415A>C (p.Gln2472Pro)
c.7115A>C (p.Gln2372Pro)
c.4379A>C (p.Gln1460Pro)
c.3272A>C (p.Gln1091Pro)
n.1830+5533T>G
c.7298A>C (p.Gln2433Pro)
c.3050A>C (p.Gln1017Pro)
c.6278A>C (p.Gln2093Pro)
8g.99776945A>GCA371875900VPS13Bc.7493A>G (p.Gln2498Arg)
n.7563A>G
c.*3175A>G (n.*3175A>G)
c.7418A>G (p.Gln2473Arg)
n.378-1737A>G
c.7490A>G (p.Gln2497Arg)
c.7415A>G (p.Gln2472Arg)
c.7115A>G (p.Gln2372Arg)
c.4379A>G (p.Gln1460Arg)
c.3272A>G (p.Gln1091Arg)
n.1830+5533T>C
c.7298A>G (p.Gln2433Arg)
c.3050A>G (p.Gln1017Arg)
c.6278A>G (p.Gln2093Arg)
8g.99776945A>TCA371875901VPS13Bc.7493A>T (p.Gln2498Leu)
n.7563A>T
c.*3175A>T (n.*3175A>T)
c.7418A>T (p.Gln2473Leu)
n.378-1737A>T
c.7490A>T (p.Gln2497Leu)
c.7415A>T (p.Gln2472Leu)
c.7115A>T (p.Gln2372Leu)
c.4379A>T (p.Gln1460Leu)
c.3272A>T (p.Gln1091Leu)
n.1830+5533T>A
c.7298A>T (p.Gln2433Leu)
c.3050A>T (p.Gln1017Leu)
c.6278A>T (p.Gln2093Leu)
8g.99776946A>CCA371875903VPS13Bc.7494A>C (p.Gln2498His)
n.7564A>C
c.*3176A>C (n.*3176A>C)
c.7419A>C (p.Gln2473His)
n.378-1736A>C
c.7491A>C (p.Gln2497His)
c.7416A>C (p.Gln2472His)
c.7116A>C (p.Gln2372His)
c.4380A>C (p.Gln1460His)
c.3273A>C (p.Gln1091His)
n.1830+5532T>G
c.7299A>C (p.Gln2433His)
c.3051A>C (p.Gln1017His)
c.6279A>C (p.Gln2093His)
 dbSNP gnomAD v2
8g.99776946A>GCA462449241VPS13Bc.7494A>G (p.Gln2498=)
n.7564A>G
c.*3176A>G (n.*3176A>G)
c.7419A>G (p.Gln2473=)
n.378-1736A>G
c.7491A>G (p.Gln2497=)
c.7416A>G (p.Gln2472=)
c.7116A>G (p.Gln2372=)
c.4380A>G (p.Gln1460=)
c.3273A>G (p.Gln1091=)
n.1830+5532T>C
c.7299A>G (p.Gln2433=)
c.3051A>G (p.Gln1017=)
c.6279A>G (p.Gln2093=)
 dbSNP gnomAD v2 gnomAD v4
8g.99776946A>TCA371875902VPS13Bc.7494A>T (p.Gln2498His)
n.7564A>T
c.*3176A>T (n.*3176A>T)
c.7419A>T (p.Gln2473His)
n.378-1736A>T
c.7491A>T (p.Gln2497His)
c.7416A>T (p.Gln2472His)
c.7116A>T (p.Gln2372His)
c.4380A>T (p.Gln1460His)
c.3273A>T (p.Gln1091His)
n.1830+5532T>A
c.7299A>T (p.Gln2433His)
c.3051A>T (p.Gln1017His)
c.6279A>T (p.Gln2093His)
8g.99776947C>ACA371875904VPS13Bc.7495C>A (p.Leu2499Ile)
n.7565C>A
c.*3177C>A (n.*3177C>A)
c.7420C>A (p.Leu2474Ile)
n.378-1735C>A
c.7492C>A (p.Leu2498Ile)
c.7417C>A (p.Leu2473Ile)
c.7117C>A (p.Leu2373Ile)
c.4381C>A (p.Leu1461Ile)
c.3274C>A (p.Leu1092Ile)
n.1830+5531G>T
c.7300C>A (p.Leu2434Ile)
c.3052C>A (p.Leu1018Ile)
c.6280C>A (p.Leu2094Ile)
8g.99776947C>GCA371875905VPS13Bc.7495C>G (p.Leu2499Val)
n.7565C>G
c.*3177C>G (n.*3177C>G)
c.7420C>G (p.Leu2474Val)
n.378-1735C>G
c.7492C>G (p.Leu2498Val)
c.7417C>G (p.Leu2473Val)
c.7117C>G (p.Leu2373Val)
c.4381C>G (p.Leu1461Val)
c.3274C>G (p.Leu1092Val)
n.1830+5531G>C
c.7300C>G (p.Leu2434Val)
c.3052C>G (p.Leu1018Val)
c.6280C>G (p.Leu2094Val)
8g.99776947C>TCA4824208VPS13Bc.7495C>T (p.Leu2499=)
n.7565C>T
c.*3177C>T (n.*3177C>T)
c.7420C>T (p.Leu2474=)
n.378-1735C>T
c.7492C>T (p.Leu2498=)
c.7417C>T (p.Leu2473=)
c.7117C>T (p.Leu2373=)
c.4381C>T (p.Leu1461=)
c.3274C>T (p.Leu1092=)
n.1830+5531G>A
c.7300C>T (p.Leu2434=)
c.3052C>T (p.Leu1018=)
c.6280C>T (p.Leu2094=)
 dbSNP ExAC
8g.99776948T>ACA371875906VPS13Bc.7496T>A (p.Leu2499Gln)
n.7566T>A
c.*3178T>A (n.*3178T>A)
c.7421T>A (p.Leu2474Gln)
n.378-1734T>A
c.7493T>A (p.Leu2498Gln)
c.7418T>A (p.Leu2473Gln)
c.7118T>A (p.Leu2373Gln)
c.4382T>A (p.Leu1461Gln)
c.3275T>A (p.Leu1092Gln)
n.1830+5530A>T
c.7301T>A (p.Leu2434Gln)
c.3053T>A (p.Leu1018Gln)
c.6281T>A (p.Leu2094Gln)
 gnomAD v4
8g.99776948T>CCA371875907VPS13Bc.7496T>C (p.Leu2499Pro)
n.7566T>C
c.*3178T>C (n.*3178T>C)
c.7421T>C (p.Leu2474Pro)
n.378-1734T>C
c.7493T>C (p.Leu2498Pro)
c.7418T>C (p.Leu2473Pro)
c.7118T>C (p.Leu2373Pro)
c.4382T>C (p.Leu1461Pro)
c.3275T>C (p.Leu1092Pro)
n.1830+5530A>G
c.7301T>C (p.Leu2434Pro)
c.3053T>C (p.Leu1018Pro)
c.6281T>C (p.Leu2094Pro)
8g.99776948T>GCA371875908VPS13Bc.7496T>G (p.Leu2499Arg)
n.7566T>G
c.*3178T>G (n.*3178T>G)
c.7421T>G (p.Leu2474Arg)
n.378-1734T>G
c.7493T>G (p.Leu2498Arg)
c.7418T>G (p.Leu2473Arg)
c.7118T>G (p.Leu2373Arg)
c.4382T>G (p.Leu1461Arg)
c.3275T>G (p.Leu1092Arg)
n.1830+5530A>C
c.7301T>G (p.Leu2434Arg)
c.3053T>G (p.Leu1018Arg)
c.6281T>G (p.Leu2094Arg)
8g.99776949A>CCA462449242VPS13Bc.7497A>C (p.Leu2499=)
n.7567A>C
c.*3179A>C (n.*3179A>C)
c.7422A>C (p.Leu2474=)
n.378-1733A>C
c.7494A>C (p.Leu2498=)
c.7419A>C (p.Leu2473=)
c.7119A>C (p.Leu2373=)
c.4383A>C (p.Leu1461=)
c.3276A>C (p.Leu1092=)
n.1830+5529T>G
c.7302A>C (p.Leu2434=)
c.3054A>C (p.Leu1018=)
c.6282A>C (p.Leu2094=)
 ClinVar
8g.99776949A>GCA462449243VPS13Bc.7497A>G (p.Leu2499=)
n.7567A>G
c.*3179A>G (n.*3179A>G)
c.7422A>G (p.Leu2474=)
n.378-1733A>G
c.7494A>G (p.Leu2498=)
c.7419A>G (p.Leu2473=)
c.7119A>G (p.Leu2373=)
c.4383A>G (p.Leu1461=)
c.3276A>G (p.Leu1092=)
n.1830+5529T>C
c.7302A>G (p.Leu2434=)
c.3054A>G (p.Leu1018=)
c.6282A>G (p.Leu2094=)
8g.99776949A>TCA462449244VPS13Bc.7497A>T (p.Leu2499=)
n.7567A>T
c.*3179A>T (n.*3179A>T)
c.7422A>T (p.Leu2474=)
n.378-1733A>T
c.7494A>T (p.Leu2498=)
c.7419A>T (p.Leu2473=)
c.7119A>T (p.Leu2373=)
c.4383A>T (p.Leu1461=)
c.3276A>T (p.Leu1092=)
n.1830+5529T>A
c.7302A>T (p.Leu2434=)
c.3054A>T (p.Leu1018=)
c.6282A>T (p.Leu2094=)
8g.99776950G>ACA371875911VPS13Bc.7498G>A (p.Gly2500Ser)
n.7568G>A
c.*3180G>A (n.*3180G>A)
c.7423G>A (p.Gly2475Ser)
n.378-1732G>A
c.7495G>A (p.Gly2499Ser)
c.7420G>A (p.Gly2474Ser)
c.7120G>A (p.Gly2374Ser)
c.4384G>A (p.Gly1462Ser)
c.3277G>A (p.Gly1093Ser)
n.1830+5528C>T
c.7303G>A (p.Gly2435Ser)
c.3055G>A (p.Gly1019Ser)
c.6283G>A (p.Gly2095Ser)
8g.99776950G>CCA371875909VPS13Bc.7498G>C (p.Gly2500Arg)
n.7568G>C
c.*3180G>C (n.*3180G>C)
c.7423G>C (p.Gly2475Arg)
n.378-1732G>C
c.7495G>C (p.Gly2499Arg)
c.7420G>C (p.Gly2474Arg)
c.7120G>C (p.Gly2374Arg)
c.4384G>C (p.Gly1462Arg)
c.3277G>C (p.Gly1093Arg)
n.1830+5528C>G
c.7303G>C (p.Gly2435Arg)
c.3055G>C (p.Gly1019Arg)
c.6283G>C (p.Gly2095Arg)
 ClinVar
8g.99776950G>TCA371875910VPS13Bc.7498G>T (p.Gly2500Cys)
n.7568G>T
c.*3180G>T (n.*3180G>T)
c.7423G>T (p.Gly2475Cys)
n.378-1732G>T
c.7495G>T (p.Gly2499Cys)
c.7420G>T (p.Gly2474Cys)
c.7120G>T (p.Gly2374Cys)
c.4384G>T (p.Gly1462Cys)
c.3277G>T (p.Gly1093Cys)
n.1830+5528C>A
c.7303G>T (p.Gly2435Cys)
c.3055G>T (p.Gly1019Cys)
c.6283G>T (p.Gly2095Cys)
 gnomAD v4
8g.99776951G>ACA371875912VPS13Bc.7499G>A (p.Gly2500Asp)
n.7569G>A
c.*3181G>A (n.*3181G>A)
c.7424G>A (p.Gly2475Asp)
n.378-1731G>A
c.7496G>A (p.Gly2499Asp)
c.7421G>A (p.Gly2474Asp)
c.7121G>A (p.Gly2374Asp)
c.4385G>A (p.Gly1462Asp)
c.3278G>A (p.Gly1093Asp)
n.1830+5527C>T
c.7304G>A (p.Gly2435Asp)
c.3056G>A (p.Gly1019Asp)
c.6284G>A (p.Gly2095Asp)
 ClinVar dbSNP
8g.99776951G>CCA371875913VPS13Bc.7499G>C (p.Gly2500Ala)
n.7569G>C
c.*3181G>C (n.*3181G>C)
c.7424G>C (p.Gly2475Ala)
n.378-1731G>C
c.7496G>C (p.Gly2499Ala)
c.7421G>C (p.Gly2474Ala)
c.7121G>C (p.Gly2374Ala)
c.4385G>C (p.Gly1462Ala)
c.3278G>C (p.Gly1093Ala)
n.1830+5527C>G
c.7304G>C (p.Gly2435Ala)
c.3056G>C (p.Gly1019Ala)
c.6284G>C (p.Gly2095Ala)
8g.99776951G>TCA371875914VPS13Bc.7499G>T (p.Gly2500Val)
n.7569G>T
c.*3181G>T (n.*3181G>T)
c.7424G>T (p.Gly2475Val)
n.378-1731G>T
c.7496G>T (p.Gly2499Val)
c.7421G>T (p.Gly2474Val)
c.7121G>T (p.Gly2374Val)
c.4385G>T (p.Gly1462Val)
c.3278G>T (p.Gly1093Val)
n.1830+5527C>A
c.7304G>T (p.Gly2435Val)
c.3056G>T (p.Gly1019Val)
c.6284G>T (p.Gly2095Val)
 gnomAD v4
8g.99776951_99776952delCA2781478404VPS13Bc.7499_7500del (p.Gly2500AspfsTer19)
n.7569_7570del
c.*3181_*3182del (n.*3181_*3182del)
c.7424_7425del (p.Gly2475AspfsTer19)
n.378-1731_378-1730del
c.7496_7497del (p.Gly2499AspfsTer19)
c.7421_7422del (p.Gly2474AspfsTer19)
c.7121_7122del (p.Gly2374AspfsTer19)
c.4385_4386del (p.Gly1462AspfsTer19)
c.3278_3279del (p.Gly1093AspfsTer19)
n.1830+5526_1830+5527del
c.7304_7305del (p.Gly2435AspfsTer19)
c.3056_3057del (p.Gly1019AspfsTer19)
c.6284_6285del (p.Gly2095AspfsTer19)
8g.99776951_99776952insACTACA2781478405VPS13Bc.7499_7500insACTA (p.Thr2501LeufsTer20)
n.7569_7570insACTA
c.*3181_*3182insACTA (n.*3181_*3182insACTA)
c.7424_7425insACTA (p.Thr2476LeufsTer20)
n.378-1731_378-1730insACTA
c.7496_7497insACTA (p.Thr2500LeufsTer20)
c.7421_7422insACTA (p.Thr2475LeufsTer20)
c.7121_7122insACTA (p.Thr2375LeufsTer20)
c.4385_4386insACTA (p.Thr1463LeufsTer20)
c.3278_3279insACTA (p.Thr1094LeufsTer20)
n.1830+5526_1830+5527insTAGT
c.7304_7305insACTA (p.Thr2436LeufsTer20)
c.3056_3057insACTA (p.Thr1020LeufsTer20)
c.6284_6285insACTA (p.Thr2096LeufsTer20)
8g.99776952C>ACA462449246VPS13Bc.7500C>A (p.Gly2500=)
n.7570C>A
c.*3182C>A (n.*3182C>A)
c.7425C>A (p.Gly2475=)
n.378-1730C>A
c.7497C>A (p.Gly2499=)
c.7422C>A (p.Gly2474=)
c.7122C>A (p.Gly2374=)
c.4386C>A (p.Gly1462=)
c.3279C>A (p.Gly1093=)
n.1830+5526G>T
c.7305C>A (p.Gly2435=)
c.3057C>A (p.Gly1019=)
c.6285C>A (p.Gly2095=)
8g.99776952C>GCA462449247VPS13Bc.7500C>G (p.Gly2500=)
n.7570C>G
c.*3182C>G (n.*3182C>G)
c.7425C>G (p.Gly2475=)
n.378-1730C>G
c.7497C>G (p.Gly2499=)
c.7422C>G (p.Gly2474=)
c.7122C>G (p.Gly2374=)
c.4386C>G (p.Gly1462=)
c.3279C>G (p.Gly1093=)
n.1830+5526G>C
c.7305C>G (p.Gly2435=)
c.3057C>G (p.Gly1019=)
c.6285C>G (p.Gly2095=)
8g.99776952C>TCA462449245VPS13Bc.7500C>T (p.Gly2500=)
n.7570C>T
c.*3182C>T (n.*3182C>T)
c.7425C>T (p.Gly2475=)
n.378-1730C>T
c.7497C>T (p.Gly2499=)
c.7422C>T (p.Gly2474=)
c.7122C>T (p.Gly2374=)
c.4386C>T (p.Gly1462=)
c.3279C>T (p.Gly1093=)
n.1830+5526G>A
c.7305C>T (p.Gly2435=)
c.3057C>T (p.Gly1019=)
c.6285C>T (p.Gly2095=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776953A>CCA371875915VPS13Bc.7501A>C (p.Thr2501Pro)
n.7571A>C
c.*3183A>C (n.*3183A>C)
c.7426A>C (p.Thr2476Pro)
n.378-1729A>C
c.7498A>C (p.Thr2500Pro)
c.7423A>C (p.Thr2475Pro)
c.7123A>C (p.Thr2375Pro)
c.4387A>C (p.Thr1463Pro)
c.3280A>C (p.Thr1094Pro)
n.1830+5525T>G
c.7306A>C (p.Thr2436Pro)
c.3058A>C (p.Thr1020Pro)
c.6286A>C (p.Thr2096Pro)
8g.99776953A>GCA371875916VPS13Bc.7501A>G (p.Thr2501Ala)
n.7571A>G
c.*3183A>G (n.*3183A>G)
c.7426A>G (p.Thr2476Ala)
n.378-1729A>G
c.7498A>G (p.Thr2500Ala)
c.7423A>G (p.Thr2475Ala)
c.7123A>G (p.Thr2375Ala)
c.4387A>G (p.Thr1463Ala)
c.3280A>G (p.Thr1094Ala)
n.1830+5525T>C
c.7306A>G (p.Thr2436Ala)
c.3058A>G (p.Thr1020Ala)
c.6286A>G (p.Thr2096Ala)
 ClinVar dbSNP
8g.99776953A>TCA371875917VPS13Bc.7501A>T (p.Thr2501Ser)
n.7571A>T
c.*3183A>T (n.*3183A>T)
c.7426A>T (p.Thr2476Ser)
n.378-1729A>T
c.7498A>T (p.Thr2500Ser)
c.7423A>T (p.Thr2475Ser)
c.7123A>T (p.Thr2375Ser)
c.4387A>T (p.Thr1463Ser)
c.3280A>T (p.Thr1094Ser)
n.1830+5525T>A
c.7306A>T (p.Thr2436Ser)
c.3058A>T (p.Thr1020Ser)
c.6286A>T (p.Thr2096Ser)
8g.99776954C>ACA371875918VPS13Bc.7502C>A (p.Thr2501Lys)
n.7572C>A
c.*3184C>A (n.*3184C>A)
c.7427C>A (p.Thr2476Lys)
n.378-1728C>A
c.7499C>A (p.Thr2500Lys)
c.7424C>A (p.Thr2475Lys)
c.7124C>A (p.Thr2375Lys)
c.4388C>A (p.Thr1463Lys)
c.3281C>A (p.Thr1094Lys)
n.1830+5524G>T
c.7307C>A (p.Thr2436Lys)
c.3059C>A (p.Thr1020Lys)
c.6287C>A (p.Thr2096Lys)
 ClinVar dbSNP
8g.99776954C>GCA371875919VPS13Bc.7502C>G (p.Thr2501Arg)
n.7572C>G
c.*3184C>G (n.*3184C>G)
c.7427C>G (p.Thr2476Arg)
n.378-1728C>G
c.7499C>G (p.Thr2500Arg)
c.7424C>G (p.Thr2475Arg)
c.7124C>G (p.Thr2375Arg)
c.4388C>G (p.Thr1463Arg)
c.3281C>G (p.Thr1094Arg)
n.1830+5524G>C
c.7307C>G (p.Thr2436Arg)
c.3059C>G (p.Thr1020Arg)
c.6287C>G (p.Thr2096Arg)
8g.99776954C>TCA371875920VPS13Bc.7502C>T (p.Thr2501Ile)
n.7572C>T
c.*3184C>T (n.*3184C>T)
c.7427C>T (p.Thr2476Ile)
n.378-1728C>T
c.7499C>T (p.Thr2500Ile)
c.7424C>T (p.Thr2475Ile)
c.7124C>T (p.Thr2375Ile)
c.4388C>T (p.Thr1463Ile)
c.3281C>T (p.Thr1094Ile)
n.1830+5524G>A
c.7307C>T (p.Thr2436Ile)
c.3059C>T (p.Thr1020Ile)
c.6287C>T (p.Thr2096Ile)
8g.99776954_99776956delCA2781478406VPS13Bc.7502_7504del (p.Ala2502del)
n.7572_7574del
c.*3184_*3186del (n.*3184_*3186del)
c.7427_7429del (p.Ala2477del)
n.378-1728_378-1726del
c.7499_7501del (p.Ala2501del)
c.7424_7426del (p.Ala2476del)
c.7124_7126del (p.Ala2376del)
c.4388_4390del (p.Ala1464del)
c.3281_3283del (p.Ala1095del)
n.1830+5522_1830+5524del
c.7307_7309del (p.Ala2437del)
c.3059_3061del (p.Ala1021del)
c.6287_6289del (p.Ala2097del)
8g.99776955A>CCA462449248VPS13Bc.7503A>C (p.Thr2501=)
n.7573A>C
c.*3185A>C (n.*3185A>C)
c.7428A>C (p.Thr2476=)
n.378-1727A>C
c.7500A>C (p.Thr2500=)
c.7425A>C (p.Thr2475=)
c.7125A>C (p.Thr2375=)
c.4389A>C (p.Thr1463=)
c.3282A>C (p.Thr1094=)
n.1830+5523T>G
c.7308A>C (p.Thr2436=)
c.3060A>C (p.Thr1020=)
c.6288A>C (p.Thr2096=)
8g.99776955A>GCA462449249VPS13Bc.7503A>G (p.Thr2501=)
n.7573A>G
c.*3185A>G (n.*3185A>G)
c.7428A>G (p.Thr2476=)
n.378-1727A>G
c.7500A>G (p.Thr2500=)
c.7425A>G (p.Thr2475=)
c.7125A>G (p.Thr2375=)
c.4389A>G (p.Thr1463=)
c.3282A>G (p.Thr1094=)
n.1830+5523T>C
c.7308A>G (p.Thr2436=)
c.3060A>G (p.Thr1020=)
c.6288A>G (p.Thr2096=)
 gnomAD v4
8g.99776955A>TCA462449250VPS13Bc.7503A>T (p.Thr2501=)
n.7573A>T
c.*3185A>T (n.*3185A>T)
c.7428A>T (p.Thr2476=)
n.378-1727A>T
c.7500A>T (p.Thr2500=)
c.7425A>T (p.Thr2475=)
c.7125A>T (p.Thr2375=)
c.4389A>T (p.Thr1463=)
c.3282A>T (p.Thr1094=)
n.1830+5523T>A
c.7308A>T (p.Thr2436=)
c.3060A>T (p.Thr1020=)
c.6288A>T (p.Thr2096=)
8g.99776956G>ACA371875921VPS13Bc.7504G>A (p.Ala2502Thr)
n.7574G>A
c.*3186G>A (n.*3186G>A)
c.7429G>A (p.Ala2477Thr)
n.378-1726G>A
c.7501G>A (p.Ala2501Thr)
c.7426G>A (p.Ala2476Thr)
c.7126G>A (p.Ala2376Thr)
c.4390G>A (p.Ala1464Thr)
c.3283G>A (p.Ala1095Thr)
n.1830+5522C>T
c.7309G>A (p.Ala2437Thr)
c.3061G>A (p.Ala1021Thr)
c.6289G>A (p.Ala2097Thr)
 gnomAD v4
8g.99776956G>CCA371875922VPS13Bc.7504G>C (p.Ala2502Pro)
n.7574G>C
c.*3186G>C (n.*3186G>C)
c.7429G>C (p.Ala2477Pro)
n.378-1726G>C
c.7501G>C (p.Ala2501Pro)
c.7426G>C (p.Ala2476Pro)
c.7126G>C (p.Ala2376Pro)
c.4390G>C (p.Ala1464Pro)
c.3283G>C (p.Ala1095Pro)
n.1830+5522C>G
c.7309G>C (p.Ala2437Pro)
c.3061G>C (p.Ala1021Pro)
c.6289G>C (p.Ala2097Pro)
 gnomAD v4
8g.99776956G>TCA371875923VPS13Bc.7504G>T (p.Ala2502Ser)
n.7574G>T
c.*3186G>T (n.*3186G>T)
c.7429G>T (p.Ala2477Ser)
n.378-1726G>T
c.7501G>T (p.Ala2501Ser)
c.7426G>T (p.Ala2476Ser)
c.7126G>T (p.Ala2376Ser)
c.4390G>T (p.Ala1464Ser)
c.3283G>T (p.Ala1095Ser)
n.1830+5522C>A
c.7309G>T (p.Ala2437Ser)
c.3061G>T (p.Ala1021Ser)
c.6289G>T (p.Ala2097Ser)
8g.99776957G>ACA264120VPS13Bc.7504+1G>A (n.7504+1G>A)
n.7574+1G>A
c.*3186+1G>A (n.*3186+1G>A)
c.7429+1G>A (n.7429+1G>A)
n.378-1725G>A
c.7501+1G>A (n.7501+1G>A)
c.7426+1G>A (n.7426+1G>A)
c.7126+1G>A (n.7126+1G>A)
c.4390+1G>A (n.4390+1G>A)
c.3283+1G>A (n.3283+1G>A)
n.1830+5521C>T
c.7309+1G>A (n.7309+1G>A)
c.3061+1G>A (n.3061+1G>A)
c.6289+1G>A (n.6289+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99776957G>CCA371875925VPS13Bc.7504+1G>C (n.7504+1G>C)
n.7574+1G>C
c.*3186+1G>C (n.*3186+1G>C)
c.7429+1G>C (n.7429+1G>C)
n.378-1725G>C
c.7501+1G>C (n.7501+1G>C)
c.7426+1G>C (n.7426+1G>C)
c.7126+1G>C (n.7126+1G>C)
c.4390+1G>C (n.4390+1G>C)
c.3283+1G>C (n.3283+1G>C)
n.1830+5521C>G
c.7309+1G>C (n.7309+1G>C)
c.3061+1G>C (n.3061+1G>C)
c.6289+1G>C (n.6289+1G>C)
8g.99776957G>TCA371875924VPS13Bc.7504+1G>T (n.7504+1G>T)
n.7574+1G>T
c.*3186+1G>T (n.*3186+1G>T)
c.7429+1G>T (n.7429+1G>T)
n.378-1725G>T
c.7501+1G>T (n.7501+1G>T)
c.7426+1G>T (n.7426+1G>T)
c.7126+1G>T (n.7126+1G>T)
c.4390+1G>T (n.4390+1G>T)
c.3283+1G>T (n.3283+1G>T)
n.1830+5521C>A
c.7309+1G>T (n.7309+1G>T)
c.3061+1G>T (n.3061+1G>T)
c.6289+1G>T (n.6289+1G>T)
8g.99776958T>ACA371875926VPS13Bc.7504+2T>A (n.7504+2T>A)
n.7574+2T>A
c.*3186+2T>A (n.*3186+2T>A)
c.7429+2T>A (n.7429+2T>A)
n.378-1724T>A
c.7501+2T>A (n.7501+2T>A)
c.7426+2T>A (n.7426+2T>A)
c.7126+2T>A (n.7126+2T>A)
c.4390+2T>A (n.4390+2T>A)
c.3283+2T>A (n.3283+2T>A)
n.1830+5520A>T
c.7309+2T>A (n.7309+2T>A)
c.3061+2T>A (n.3061+2T>A)
c.6289+2T>A (n.6289+2T>A)
 gnomAD v4
8g.99776958T>CCA16041252VPS13Bc.7504+2T>C (n.7504+2T>C)
n.7574+2T>C
c.*3186+2T>C (n.*3186+2T>C)
c.7429+2T>C (n.7429+2T>C)
n.378-1724T>C
c.7501+2T>C (n.7501+2T>C)
c.7426+2T>C (n.7426+2T>C)
c.7126+2T>C (n.7126+2T>C)
c.4390+2T>C (n.4390+2T>C)
c.3283+2T>C (n.3283+2T>C)
n.1830+5520A>G
c.7309+2T>C (n.7309+2T>C)
c.3061+2T>C (n.3061+2T>C)
c.6289+2T>C (n.6289+2T>C)
 ClinVar dbSNP
8g.99776958T>GCA371875927VPS13Bc.7504+2T>G (n.7504+2T>G)
n.7574+2T>G
c.*3186+2T>G (n.*3186+2T>G)
c.7429+2T>G (n.7429+2T>G)
n.378-1724T>G
c.7501+2T>G (n.7501+2T>G)
c.7426+2T>G (n.7426+2T>G)
c.7126+2T>G (n.7126+2T>G)
c.4390+2T>G (n.4390+2T>G)
c.3283+2T>G (n.3283+2T>G)
n.1830+5520A>C
c.7309+2T>G (n.7309+2T>G)
c.3061+2T>G (n.3061+2T>G)
c.6289+2T>G (n.6289+2T>G)
8g.99776959A>GCA2499219505VPS13Bc.7504+3A>G (n.7504+3A>G)
n.7574+3A>G
c.*3186+3A>G (n.*3186+3A>G)
c.7429+3A>G (n.7429+3A>G)
n.378-1723A>G
c.7501+3A>G (n.7501+3A>G)
c.7426+3A>G (n.7426+3A>G)
c.7126+3A>G (n.7126+3A>G)
c.4390+3A>G (n.4390+3A>G)
c.3283+3A>G (n.3283+3A>G)
n.1830+5519T>C
c.7309+3A>G (n.7309+3A>G)
c.3061+3A>G (n.3061+3A>G)
c.6289+3A>G (n.6289+3A>G)
 ClinVar dbSNP gnomAD v4
8g.99776960C>ACA4824209VPS13Bc.7504+4C>A (n.7504+4C>A)
n.7574+4C>A
c.*3186+4C>A (n.*3186+4C>A)
c.7429+4C>A (n.7429+4C>A)
n.378-1722C>A
c.7501+4C>A (n.7501+4C>A)
c.7426+4C>A (n.7426+4C>A)
c.7126+4C>A (n.7126+4C>A)
c.4390+4C>A (n.4390+4C>A)
c.3283+4C>A (n.3283+4C>A)
n.1830+5518G>T
c.7309+4C>A (n.7309+4C>A)
c.3061+4C>A (n.3061+4C>A)
c.6289+4C>A (n.6289+4C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776960C>TCA2688068080VPS13Bc.7504+4C>T (n.7504+4C>T)
n.7574+4C>T
c.*3186+4C>T (n.*3186+4C>T)
c.7429+4C>T (n.7429+4C>T)
n.378-1722C>T
c.7501+4C>T (n.7501+4C>T)
c.7426+4C>T (n.7426+4C>T)
c.7126+4C>T (n.7126+4C>T)
c.4390+4C>T (n.4390+4C>T)
c.3283+4C>T (n.3283+4C>T)
n.1830+5518G>A
c.7309+4C>T (n.7309+4C>T)
c.3061+4C>T (n.3061+4C>T)
c.6289+4C>T (n.6289+4C>T)
 gnomAD v4
8g.99776962C>ACA2579216143VPS13Bc.7504+6C>A (n.7504+6C>A)
n.7574+6C>A
c.*3186+6C>A (n.*3186+6C>A)
c.7429+6C>A (n.7429+6C>A)
n.378-1720C>A
c.7501+6C>A (n.7501+6C>A)
c.7426+6C>A (n.7426+6C>A)
c.7126+6C>A (n.7126+6C>A)
c.4390+6C>A (n.4390+6C>A)
c.3283+6C>A (n.3283+6C>A)
n.1830+5516G>T
c.7309+6C>A (n.7309+6C>A)
c.3061+6C>A (n.3061+6C>A)
c.6289+6C>A (n.6289+6C>A)
 gnomAD v4
8g.99776962C>GCA2688068081VPS13Bc.7504+6C>G (n.7504+6C>G)
n.7574+6C>G
c.*3186+6C>G (n.*3186+6C>G)
c.7429+6C>G (n.7429+6C>G)
n.378-1720C>G
c.7501+6C>G (n.7501+6C>G)
c.7426+6C>G (n.7426+6C>G)
c.7126+6C>G (n.7126+6C>G)
c.4390+6C>G (n.4390+6C>G)
c.3283+6C>G (n.3283+6C>G)
n.1830+5516G>C
c.7309+6C>G (n.7309+6C>G)
c.3061+6C>G (n.3061+6C>G)
c.6289+6C>G (n.6289+6C>G)
 gnomAD v4
8g.99776962C>TCA583884514VPS13Bc.7504+6C>T (n.7504+6C>T)
n.7574+6C>T
c.*3186+6C>T (n.*3186+6C>T)
c.7429+6C>T (n.7429+6C>T)
n.378-1720C>T
c.7501+6C>T (n.7501+6C>T)
c.7426+6C>T (n.7426+6C>T)
c.7126+6C>T (n.7126+6C>T)
c.4390+6C>T (n.4390+6C>T)
c.3283+6C>T (n.3283+6C>T)
n.1830+5516G>A
c.7309+6C>T (n.7309+6C>T)
c.3061+6C>T (n.3061+6C>T)
c.6289+6C>T (n.6289+6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99776962dupCA4824210VPS13Bc.7504+6dup (n.7504+6dup)
n.7574+6dup
c.*3186+6dup (n.*3186+6dup)
c.7429+6dup (n.7429+6dup)
n.378-1720dup
c.7501+6dup (n.7501+6dup)
c.7426+6dup (n.7426+6dup)
c.7126+6dup (n.7126+6dup)
c.4390+6dup (n.4390+6dup)
c.3283+6dup (n.3283+6dup)
n.1830+5516dup
c.7309+6dup (n.7309+6dup)
c.3061+6dup (n.3061+6dup)
c.6289+6dup (n.6289+6dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776963T>CCA2573143597VPS13Bc.7504+7T>C (n.7504+7T>C)
n.7574+7T>C
c.*3186+7T>C (n.*3186+7T>C)
c.7429+7T>C (n.7429+7T>C)
n.378-1719T>C
c.7501+7T>C (n.7501+7T>C)
c.7426+7T>C (n.7426+7T>C)
c.7126+7T>C (n.7126+7T>C)
c.4390+7T>C (n.4390+7T>C)
c.3283+7T>C (n.3283+7T>C)
n.1830+5515A>G
c.7309+7T>C (n.7309+7T>C)
c.3061+7T>C (n.3061+7T>C)
c.6289+7T>C (n.6289+7T>C)
 ClinVar dbSNP
8g.99776970dupCA4824212VPS13Bc.7504+14dup (n.7504+14dup)
n.7574+14dup
c.*3186+14dup (n.*3186+14dup)
c.7429+14dup (n.7429+14dup)
n.378-1712dup
c.7501+14dup (n.7501+14dup)
c.7426+14dup (n.7426+14dup)
c.7126+14dup (n.7126+14dup)
c.4390+14dup (n.4390+14dup)
c.3283+14dup (n.3283+14dup)
n.1830+5515dup
c.7309+14dup (n.7309+14dup)
c.3061+14dup (n.3061+14dup)
c.6289+14dup (n.6289+14dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776970delCA4824211VPS13Bc.7504+14del (n.7504+14del)
n.7574+14del
c.*3186+14del (n.*3186+14del)
c.7429+14del (n.7429+14del)
n.378-1712del
c.7501+14del (n.7501+14del)
c.7426+14del (n.7426+14del)
c.7126+14del (n.7126+14del)
c.4390+14del (n.4390+14del)
c.3283+14del (n.3283+14del)
n.1830+5515del
c.7309+14del (n.7309+14del)
c.3061+14del (n.3061+14del)
c.6289+14del (n.6289+14del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99776969_99776970delCA2688068082VPS13Bc.7504+13_7504+14del (n.7504+13_7504+14del)
n.7574+13_7574+14del
c.*3186+13_*3186+14del (n.*3186+13_*3186+14del)
c.7429+13_7429+14del (n.7429+13_7429+14del)
n.378-1713_378-1712del
c.7501+13_7501+14del (n.7501+13_7501+14del)
c.7426+13_7426+14del (n.7426+13_7426+14del)
c.7126+13_7126+14del (n.7126+13_7126+14del)
c.4390+13_4390+14del (n.4390+13_4390+14del)
c.3283+13_3283+14del (n.3283+13_3283+14del)
n.1830+5514_1830+5515del
c.7309+13_7309+14del (n.7309+13_7309+14del)
c.3061+13_3061+14del (n.3061+13_3061+14del)
c.6289+13_6289+14del (n.6289+13_6289+14del)
 gnomAD v4
8g.99776967T>CCA2573143598VPS13Bc.7504+11T>C (n.7504+11T>C)
n.7574+11T>C
c.*3186+11T>C (n.*3186+11T>C)
c.7429+11T>C (n.7429+11T>C)
n.378-1715T>C
c.7501+11T>C (n.7501+11T>C)
c.7426+11T>C (n.7426+11T>C)
c.7126+11T>C (n.7126+11T>C)
c.4390+11T>C (n.4390+11T>C)
c.3283+11T>C (n.3283+11T>C)
n.1830+5511A>G
c.7309+11T>C (n.7309+11T>C)
c.3061+11T>C (n.3061+11T>C)
c.6289+11T>C (n.6289+11T>C)
 ClinVar dbSNP gnomAD v4
8g.99776969T>ACA2579216144VPS13Bc.7504+13T>A (n.7504+13T>A)
n.7574+13T>A
c.*3186+13T>A (n.*3186+13T>A)
c.7429+13T>A (n.7429+13T>A)
n.378-1713T>A
c.7501+13T>A (n.7501+13T>A)
c.7426+13T>A (n.7426+13T>A)
c.7126+13T>A (n.7126+13T>A)
c.4390+13T>A (n.4390+13T>A)
c.3283+13T>A (n.3283+13T>A)
n.1830+5509A>T
c.7309+13T>A (n.7309+13T>A)
c.3061+13T>A (n.3061+13T>A)
c.6289+13T>A (n.6289+13T>A)
 ClinVar gnomAD v4

Number of alleles fetched