Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99854032C>ACA371784762VPS13Bc.10718C>A (p.Thr3573Lys)
n.10788C>A
c.*6400C>A (n.*6400C>A)
c.10643C>A (p.Thr3548Lys)
c.10715C>A (p.Thr3572Lys)
c.10640C>A (p.Thr3547Lys)
c.10340C>A (p.Thr3447Lys)
c.7604C>A (p.Thr2535Lys)
c.6497C>A (p.Thr2166Lys)
c.10523C>A (p.Thr3508Lys)
c.6275C>A (p.Thr2092Lys)
c.9503C>A (p.Thr3168Lys)
8g.99854032C>GCA371784767VPS13Bc.10718C>G (p.Thr3573Arg)
n.10788C>G
c.*6400C>G (n.*6400C>G)
c.10643C>G (p.Thr3548Arg)
c.10715C>G (p.Thr3572Arg)
c.10640C>G (p.Thr3547Arg)
c.10340C>G (p.Thr3447Arg)
c.7604C>G (p.Thr2535Arg)
c.6497C>G (p.Thr2166Arg)
c.10523C>G (p.Thr3508Arg)
c.6275C>G (p.Thr2092Arg)
c.9503C>G (p.Thr3168Arg)
8g.99854032C>TCA4824989VPS13Bc.10718C>T (p.Thr3573Ile)
n.10788C>T
c.*6400C>T (n.*6400C>T)
c.10643C>T (p.Thr3548Ile)
c.10715C>T (p.Thr3572Ile)
c.10640C>T (p.Thr3547Ile)
c.10340C>T (p.Thr3447Ile)
c.7604C>T (p.Thr2535Ile)
c.6497C>T (p.Thr2166Ile)
c.10523C>T (p.Thr3508Ile)
c.6275C>T (p.Thr2092Ile)
c.9503C>T (p.Thr3168Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854033A>CCA462458277VPS13Bc.10719A>C (p.Thr3573=)
n.10789A>C
c.*6401A>C (n.*6401A>C)
c.10644A>C (p.Thr3548=)
c.10716A>C (p.Thr3572=)
c.10641A>C (p.Thr3547=)
c.10341A>C (p.Thr3447=)
c.7605A>C (p.Thr2535=)
c.6498A>C (p.Thr2166=)
c.10524A>C (p.Thr3508=)
c.6276A>C (p.Thr2092=)
c.9504A>C (p.Thr3168=)
8g.99854033A>GCA462458278VPS13Bc.10719A>G (p.Thr3573=)
n.10789A>G
c.*6401A>G (n.*6401A>G)
c.10644A>G (p.Thr3548=)
c.10716A>G (p.Thr3572=)
c.10641A>G (p.Thr3547=)
c.10341A>G (p.Thr3447=)
c.7605A>G (p.Thr2535=)
c.6498A>G (p.Thr2166=)
c.10524A>G (p.Thr3508=)
c.6276A>G (p.Thr2092=)
c.9504A>G (p.Thr3168=)
 ClinVar
8g.99854033A>TCA462458279VPS13Bc.10719A>T (p.Thr3573=)
n.10789A>T
c.*6401A>T (n.*6401A>T)
c.10644A>T (p.Thr3548=)
c.10716A>T (p.Thr3572=)
c.10641A>T (p.Thr3547=)
c.10341A>T (p.Thr3447=)
c.7605A>T (p.Thr2535=)
c.6498A>T (p.Thr2166=)
c.10524A>T (p.Thr3508=)
c.6276A>T (p.Thr2092=)
c.9504A>T (p.Thr3168=)
 ClinVar dbSNP
8g.99854034C>ACA4824990VPS13Bc.10720C>A (p.Gln3574Lys)
n.10790C>A
c.*6402C>A (n.*6402C>A)
c.10645C>A (p.Gln3549Lys)
c.10717C>A (p.Gln3573Lys)
c.10642C>A (p.Gln3548Lys)
c.10342C>A (p.Gln3448Lys)
c.7606C>A (p.Gln2536Lys)
c.6499C>A (p.Gln2167Lys)
c.10525C>A (p.Gln3509Lys)
c.6277C>A (p.Gln2093Lys)
c.9505C>A (p.Gln3169Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854034C>GCA371784787VPS13Bc.10720C>G (p.Gln3574Glu)
n.10790C>G
c.*6402C>G (n.*6402C>G)
c.10645C>G (p.Gln3549Glu)
c.10717C>G (p.Gln3573Glu)
c.10642C>G (p.Gln3548Glu)
c.10342C>G (p.Gln3448Glu)
c.7606C>G (p.Gln2536Glu)
c.6499C>G (p.Gln2167Glu)
c.10525C>G (p.Gln3509Glu)
c.6277C>G (p.Gln2093Glu)
c.9505C>G (p.Gln3169Glu)
 gnomAD v4
8g.99854034C>TCA371784791VPS13Bc.10720C>T (p.Gln3574Ter)
n.10790C>T
c.*6402C>T (n.*6402C>T)
c.10645C>T (p.Gln3549Ter)
c.10717C>T (p.Gln3573Ter)
c.10642C>T (p.Gln3548Ter)
c.10342C>T (p.Gln3448Ter)
c.7606C>T (p.Gln2536Ter)
c.6499C>T (p.Gln2167Ter)
c.10525C>T (p.Gln3509Ter)
c.6277C>T (p.Gln2093Ter)
c.9505C>T (p.Gln3169Ter)
8g.99854035A>CCA371784792VPS13Bc.10721A>C (p.Gln3574Pro)
n.10791A>C
c.*6403A>C (n.*6403A>C)
c.10646A>C (p.Gln3549Pro)
c.10718A>C (p.Gln3573Pro)
c.10643A>C (p.Gln3548Pro)
c.10343A>C (p.Gln3448Pro)
c.7607A>C (p.Gln2536Pro)
c.6500A>C (p.Gln2167Pro)
c.10526A>C (p.Gln3509Pro)
c.6278A>C (p.Gln2093Pro)
c.9506A>C (p.Gln3169Pro)
8g.99854035A>GCA371784794VPS13Bc.10721A>G (p.Gln3574Arg)
n.10791A>G
c.*6403A>G (n.*6403A>G)
c.10646A>G (p.Gln3549Arg)
c.10718A>G (p.Gln3573Arg)
c.10643A>G (p.Gln3548Arg)
c.10343A>G (p.Gln3448Arg)
c.7607A>G (p.Gln2536Arg)
c.6500A>G (p.Gln2167Arg)
c.10526A>G (p.Gln3509Arg)
c.6278A>G (p.Gln2093Arg)
c.9506A>G (p.Gln3169Arg)
8g.99854035A>TCA371784798VPS13Bc.10721A>T (p.Gln3574Leu)
n.10791A>T
c.*6403A>T (n.*6403A>T)
c.10646A>T (p.Gln3549Leu)
c.10718A>T (p.Gln3573Leu)
c.10643A>T (p.Gln3548Leu)
c.10343A>T (p.Gln3448Leu)
c.7607A>T (p.Gln2536Leu)
c.6500A>T (p.Gln2167Leu)
c.10526A>T (p.Gln3509Leu)
c.6278A>T (p.Gln2093Leu)
c.9506A>T (p.Gln3169Leu)
8g.99854036G>ACA462458280VPS13Bc.10722G>A (p.Gln3574=)
n.10792G>A
c.*6404G>A (n.*6404G>A)
c.10647G>A (p.Gln3549=)
c.10719G>A (p.Gln3573=)
c.10644G>A (p.Gln3548=)
c.10344G>A (p.Gln3448=)
c.7608G>A (p.Gln2536=)
c.6501G>A (p.Gln2167=)
c.10527G>A (p.Gln3509=)
c.6279G>A (p.Gln2093=)
c.9507G>A (p.Gln3169=)
 gnomAD v4
8g.99854036G>CCA371784806VPS13Bc.10722G>C (p.Gln3574His)
n.10792G>C
c.*6404G>C (n.*6404G>C)
c.10647G>C (p.Gln3549His)
c.10719G>C (p.Gln3573His)
c.10644G>C (p.Gln3548His)
c.10344G>C (p.Gln3448His)
c.7608G>C (p.Gln2536His)
c.6501G>C (p.Gln2167His)
c.10527G>C (p.Gln3509His)
c.6279G>C (p.Gln2093His)
c.9507G>C (p.Gln3169His)
8g.99854036G>TCA371784808VPS13Bc.10722G>T (p.Gln3574His)
n.10792G>T
c.*6404G>T (n.*6404G>T)
c.10647G>T (p.Gln3549His)
c.10719G>T (p.Gln3573His)
c.10644G>T (p.Gln3548His)
c.10344G>T (p.Gln3448His)
c.7608G>T (p.Gln2536His)
c.6501G>T (p.Gln2167His)
c.10527G>T (p.Gln3509His)
c.6279G>T (p.Gln2093His)
c.9507G>T (p.Gln3169His)
 gnomAD v4
8g.99854037C>ACA371784837VPS13Bc.10723C>A (p.His3575Asn)
n.10793C>A
c.*6405C>A (n.*6405C>A)
c.10648C>A (p.His3550Asn)
c.10720C>A (p.His3574Asn)
c.10645C>A (p.His3549Asn)
c.10345C>A (p.His3449Asn)
c.7609C>A (p.His2537Asn)
c.6502C>A (p.His2168Asn)
c.10528C>A (p.His3510Asn)
c.6280C>A (p.His2094Asn)
c.9508C>A (p.His3170Asn)
8g.99854037C>GCA371784852VPS13Bc.10723C>G (p.His3575Asp)
n.10793C>G
c.*6405C>G (n.*6405C>G)
c.10648C>G (p.His3550Asp)
c.10720C>G (p.His3574Asp)
c.10645C>G (p.His3549Asp)
c.10345C>G (p.His3449Asp)
c.7609C>G (p.His2537Asp)
c.6502C>G (p.His2168Asp)
c.10528C>G (p.His3510Asp)
c.6280C>G (p.His2094Asp)
c.9508C>G (p.His3170Asp)
8g.99854037C>TCA371784819VPS13Bc.10723C>T (p.His3575Tyr)
n.10793C>T
c.*6405C>T (n.*6405C>T)
c.10648C>T (p.His3550Tyr)
c.10720C>T (p.His3574Tyr)
c.10645C>T (p.His3549Tyr)
c.10345C>T (p.His3449Tyr)
c.7609C>T (p.His2537Tyr)
c.6502C>T (p.His2168Tyr)
c.10528C>T (p.His3510Tyr)
c.6280C>T (p.His2094Tyr)
c.9508C>T (p.His3170Tyr)
8g.99854038A>CCA371784878VPS13Bc.10724A>C (p.His3575Pro)
n.10794A>C
c.*6406A>C (n.*6406A>C)
c.10649A>C (p.His3550Pro)
c.10721A>C (p.His3574Pro)
c.10646A>C (p.His3549Pro)
c.10346A>C (p.His3449Pro)
c.7610A>C (p.His2537Pro)
c.6503A>C (p.His2168Pro)
c.10529A>C (p.His3510Pro)
c.6281A>C (p.His2094Pro)
c.9509A>C (p.His3170Pro)
 dbSNP
8g.99854038A>GCA371784886VPS13Bc.10724A>G (p.His3575Arg)
n.10794A>G
c.*6406A>G (n.*6406A>G)
c.10649A>G (p.His3550Arg)
c.10721A>G (p.His3574Arg)
c.10646A>G (p.His3549Arg)
c.10346A>G (p.His3449Arg)
c.7610A>G (p.His2537Arg)
c.6503A>G (p.His2168Arg)
c.10529A>G (p.His3510Arg)
c.6281A>G (p.His2094Arg)
c.9509A>G (p.His3170Arg)
8g.99854038A>TCA371784895VPS13Bc.10724A>T (p.His3575Leu)
n.10794A>T
c.*6406A>T (n.*6406A>T)
c.10649A>T (p.His3550Leu)
c.10721A>T (p.His3574Leu)
c.10646A>T (p.His3549Leu)
c.10346A>T (p.His3449Leu)
c.7610A>T (p.His2537Leu)
c.6503A>T (p.His2168Leu)
c.10529A>T (p.His3510Leu)
c.6281A>T (p.His2094Leu)
c.9509A>T (p.His3170Leu)
8g.99854039C>ACA371784906VPS13Bc.10725C>A (p.His3575Gln)
n.10795C>A
c.*6407C>A (n.*6407C>A)
c.10650C>A (p.His3550Gln)
c.10722C>A (p.His3574Gln)
c.10647C>A (p.His3549Gln)
c.10347C>A (p.His3449Gln)
c.7611C>A (p.His2537Gln)
c.6504C>A (p.His2168Gln)
c.10530C>A (p.His3510Gln)
c.6282C>A (p.His2094Gln)
c.9510C>A (p.His3170Gln)
8g.99854039C>GCA371784911VPS13Bc.10725C>G (p.His3575Gln)
n.10795C>G
c.*6407C>G (n.*6407C>G)
c.10650C>G (p.His3550Gln)
c.10722C>G (p.His3574Gln)
c.10647C>G (p.His3549Gln)
c.10347C>G (p.His3449Gln)
c.7611C>G (p.His2537Gln)
c.6504C>G (p.His2168Gln)
c.10530C>G (p.His3510Gln)
c.6282C>G (p.His2094Gln)
c.9510C>G (p.His3170Gln)
 ClinVar dbSNP
8g.99854039C>TCA4824991VPS13Bc.10725C>T (p.His3575=)
n.10795C>T
c.*6407C>T (n.*6407C>T)
c.10650C>T (p.His3550=)
c.10722C>T (p.His3574=)
c.10647C>T (p.His3549=)
c.10347C>T (p.His3449=)
c.7611C>T (p.His2537=)
c.6504C>T (p.His2168=)
c.10530C>T (p.His3510=)
c.6282C>T (p.His2094=)
c.9510C>T (p.His3170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854040G>ACA4824992VPS13Bc.10726G>A (p.Ala3576Thr)
n.10796G>A
c.*6408G>A (n.*6408G>A)
c.10651G>A (p.Ala3551Thr)
c.10723G>A (p.Ala3575Thr)
c.10648G>A (p.Ala3550Thr)
c.10348G>A (p.Ala3450Thr)
c.7612G>A (p.Ala2538Thr)
c.6505G>A (p.Ala2169Thr)
c.10531G>A (p.Ala3511Thr)
c.6283G>A (p.Ala2095Thr)
c.9511G>A (p.Ala3171Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.99854040G>CCA371784932VPS13Bc.10726G>C (p.Ala3576Pro)
n.10796G>C
c.*6408G>C (n.*6408G>C)
c.10651G>C (p.Ala3551Pro)
c.10723G>C (p.Ala3575Pro)
c.10648G>C (p.Ala3550Pro)
c.10348G>C (p.Ala3450Pro)
c.7612G>C (p.Ala2538Pro)
c.6505G>C (p.Ala2169Pro)
c.10531G>C (p.Ala3511Pro)
c.6283G>C (p.Ala2095Pro)
c.9511G>C (p.Ala3171Pro)
8g.99854040G>TCA371784935VPS13Bc.10726G>T (p.Ala3576Ser)
n.10796G>T
c.*6408G>T (n.*6408G>T)
c.10651G>T (p.Ala3551Ser)
c.10723G>T (p.Ala3575Ser)
c.10648G>T (p.Ala3550Ser)
c.10348G>T (p.Ala3450Ser)
c.7612G>T (p.Ala2538Ser)
c.6505G>T (p.Ala2169Ser)
c.10531G>T (p.Ala3511Ser)
c.6283G>T (p.Ala2095Ser)
c.9511G>T (p.Ala3171Ser)
8g.99854041C>ACA371784939VPS13Bc.10727C>A (p.Ala3576Asp)
n.10797C>A
c.*6409C>A (n.*6409C>A)
c.10652C>A (p.Ala3551Asp)
c.10724C>A (p.Ala3575Asp)
c.10649C>A (p.Ala3550Asp)
c.10349C>A (p.Ala3450Asp)
c.7613C>A (p.Ala2538Asp)
c.6506C>A (p.Ala2169Asp)
c.10532C>A (p.Ala3511Asp)
c.6284C>A (p.Ala2095Asp)
c.9512C>A (p.Ala3171Asp)
8g.99854041C>GCA371784943VPS13Bc.10727C>G (p.Ala3576Gly)
n.10797C>G
c.*6409C>G (n.*6409C>G)
c.10652C>G (p.Ala3551Gly)
c.10724C>G (p.Ala3575Gly)
c.10649C>G (p.Ala3550Gly)
c.10349C>G (p.Ala3450Gly)
c.7613C>G (p.Ala2538Gly)
c.6506C>G (p.Ala2169Gly)
c.10532C>G (p.Ala3511Gly)
c.6284C>G (p.Ala2095Gly)
c.9512C>G (p.Ala3171Gly)
8g.99854041C>TCA371784948VPS13Bc.10727C>T (p.Ala3576Val)
n.10797C>T
c.*6409C>T (n.*6409C>T)
c.10652C>T (p.Ala3551Val)
c.10724C>T (p.Ala3575Val)
c.10649C>T (p.Ala3550Val)
c.10349C>T (p.Ala3450Val)
c.7613C>T (p.Ala2538Val)
c.6506C>T (p.Ala2169Val)
c.10532C>T (p.Ala3511Val)
c.6284C>T (p.Ala2095Val)
c.9512C>T (p.Ala3171Val)
8g.99854043_99854059delCA583848139VPS13Bc.10729_10745del (p.Arg3577CysfsTer?)
n.10799_10815del
c.*6411_*6427del (n.*6411_*6427del)
c.10654_10670del (p.Arg3552CysfsTer?)
c.10726_10742del (p.Arg3576CysfsTer?)
c.10651_10667del (p.Arg3551CysfsTer?)
c.10351_10367del (p.Arg3451CysfsTer?)
c.7615_7631del (p.Arg2539CysfsTer?)
c.6508_6524del (p.Arg2170CysfsTer?)
c.10534_10550del (p.Arg3512CysfsTer?)
c.6286_6302del (p.Arg2096CysfsTer?)
c.9514_9530del (p.Arg3172CysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.99854042C>ACA462458281VPS13Bc.10728C>A (p.Ala3576=)
n.10798C>A
c.*6410C>A (n.*6410C>A)
c.10653C>A (p.Ala3551=)
c.10725C>A (p.Ala3575=)
c.10650C>A (p.Ala3550=)
c.10350C>A (p.Ala3450=)
c.7614C>A (p.Ala2538=)
c.6507C>A (p.Ala2169=)
c.10533C>A (p.Ala3511=)
c.6285C>A (p.Ala2095=)
c.9513C>A (p.Ala3171=)
8g.99854042C>GCA462458282VPS13Bc.10728C>G (p.Ala3576=)
n.10798C>G
c.*6410C>G (n.*6410C>G)
c.10653C>G (p.Ala3551=)
c.10725C>G (p.Ala3575=)
c.10650C>G (p.Ala3550=)
c.10350C>G (p.Ala3450=)
c.7614C>G (p.Ala2538=)
c.6507C>G (p.Ala2169=)
c.10533C>G (p.Ala3511=)
c.6285C>G (p.Ala2095=)
c.9513C>G (p.Ala3171=)
 ClinVar dbSNP
8g.99854042C>TCA462458283VPS13Bc.10728C>T (p.Ala3576=)
n.10798C>T
c.*6410C>T (n.*6410C>T)
c.10653C>T (p.Ala3551=)
c.10725C>T (p.Ala3575=)
c.10650C>T (p.Ala3550=)
c.10350C>T (p.Ala3450=)
c.7614C>T (p.Ala2538=)
c.6507C>T (p.Ala2169=)
c.10533C>T (p.Ala3511=)
c.6285C>T (p.Ala2095=)
c.9513C>T (p.Ala3171=)
8g.99854043A>CCA462458284VPS13Bc.10729A>C (p.Arg3577=)
n.10799A>C
c.*6411A>C (n.*6411A>C)
c.10654A>C (p.Arg3552=)
c.10726A>C (p.Arg3576=)
c.10651A>C (p.Arg3551=)
c.10351A>C (p.Arg3451=)
c.7615A>C (p.Arg2539=)
c.6508A>C (p.Arg2170=)
c.10534A>C (p.Arg3512=)
c.6286A>C (p.Arg2096=)
c.9514A>C (p.Arg3172=)
8g.99854043A>GCA371784962VPS13Bc.10729A>G (p.Arg3577Gly)
n.10799A>G
c.*6411A>G (n.*6411A>G)
c.10654A>G (p.Arg3552Gly)
c.10726A>G (p.Arg3576Gly)
c.10651A>G (p.Arg3551Gly)
c.10351A>G (p.Arg3451Gly)
c.7615A>G (p.Arg2539Gly)
c.6508A>G (p.Arg2170Gly)
c.10534A>G (p.Arg3512Gly)
c.6286A>G (p.Arg2096Gly)
c.9514A>G (p.Arg3172Gly)
8g.99854043A>TCA371784965VPS13Bc.10729A>T (p.Arg3577Trp)
n.10799A>T
c.*6411A>T (n.*6411A>T)
c.10654A>T (p.Arg3552Trp)
c.10726A>T (p.Arg3576Trp)
c.10651A>T (p.Arg3551Trp)
c.10351A>T (p.Arg3451Trp)
c.7615A>T (p.Arg2539Trp)
c.6508A>T (p.Arg2170Trp)
c.10534A>T (p.Arg3512Trp)
c.6286A>T (p.Arg2096Trp)
c.9514A>T (p.Arg3172Trp)
8g.99854044G>ACA371784976VPS13Bc.10730G>A (p.Arg3577Lys)
n.10800G>A
c.*6412G>A (n.*6412G>A)
c.10655G>A (p.Arg3552Lys)
c.10727G>A (p.Arg3576Lys)
c.10652G>A (p.Arg3551Lys)
c.10352G>A (p.Arg3451Lys)
c.7616G>A (p.Arg2539Lys)
c.6509G>A (p.Arg2170Lys)
c.10535G>A (p.Arg3512Lys)
c.6287G>A (p.Arg2096Lys)
c.9515G>A (p.Arg3172Lys)
8g.99854044G>CCA371784983VPS13Bc.10730G>C (p.Arg3577Thr)
n.10800G>C
c.*6412G>C (n.*6412G>C)
c.10655G>C (p.Arg3552Thr)
c.10727G>C (p.Arg3576Thr)
c.10652G>C (p.Arg3551Thr)
c.10352G>C (p.Arg3451Thr)
c.7616G>C (p.Arg2539Thr)
c.6509G>C (p.Arg2170Thr)
c.10535G>C (p.Arg3512Thr)
c.6287G>C (p.Arg2096Thr)
c.9515G>C (p.Arg3172Thr)
8g.99854044G>TCA371784979VPS13Bc.10730G>T (p.Arg3577Met)
n.10800G>T
c.*6412G>T (n.*6412G>T)
c.10655G>T (p.Arg3552Met)
c.10727G>T (p.Arg3576Met)
c.10652G>T (p.Arg3551Met)
c.10352G>T (p.Arg3451Met)
c.7616G>T (p.Arg2539Met)
c.6509G>T (p.Arg2170Met)
c.10535G>T (p.Arg3512Met)
c.6287G>T (p.Arg2096Met)
c.9515G>T (p.Arg3172Met)
8g.99854045G>ACA462458285VPS13Bc.10731G>A (p.Arg3577=)
n.10801G>A
c.*6413G>A (n.*6413G>A)
c.10656G>A (p.Arg3552=)
c.10728G>A (p.Arg3576=)
c.10653G>A (p.Arg3551=)
c.10353G>A (p.Arg3451=)
c.7617G>A (p.Arg2539=)
c.6510G>A (p.Arg2170=)
c.10536G>A (p.Arg3512=)
c.6288G>A (p.Arg2096=)
c.9516G>A (p.Arg3172=)
8g.99854045G>CCA371784988VPS13Bc.10731G>C (p.Arg3577Ser)
n.10801G>C
c.*6413G>C (n.*6413G>C)
c.10656G>C (p.Arg3552Ser)
c.10728G>C (p.Arg3576Ser)
c.10653G>C (p.Arg3551Ser)
c.10353G>C (p.Arg3451Ser)
c.7617G>C (p.Arg2539Ser)
c.6510G>C (p.Arg2170Ser)
c.10536G>C (p.Arg3512Ser)
c.6288G>C (p.Arg2096Ser)
c.9516G>C (p.Arg3172Ser)
8g.99854045G>TCA371785000VPS13Bc.10731G>T (p.Arg3577Ser)
n.10801G>T
c.*6413G>T (n.*6413G>T)
c.10656G>T (p.Arg3552Ser)
c.10728G>T (p.Arg3576Ser)
c.10653G>T (p.Arg3551Ser)
c.10353G>T (p.Arg3451Ser)
c.7617G>T (p.Arg2539Ser)
c.6510G>T (p.Arg2170Ser)
c.10536G>T (p.Arg3512Ser)
c.6288G>T (p.Arg2096Ser)
c.9516G>T (p.Arg3172Ser)
8g.99854046G>ACA4824993VPS13Bc.10732G>A (p.Ala3578Thr)
n.10802G>A
c.*6414G>A (n.*6414G>A)
c.10657G>A (p.Ala3553Thr)
c.10729G>A (p.Ala3577Thr)
c.10654G>A (p.Ala3552Thr)
c.10354G>A (p.Ala3452Thr)
c.7618G>A (p.Ala2540Thr)
c.6511G>A (p.Ala2171Thr)
c.10537G>A (p.Ala3513Thr)
c.6289G>A (p.Ala2097Thr)
c.9517G>A (p.Ala3173Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854046G>CCA371785015VPS13Bc.10732G>C (p.Ala3578Pro)
n.10802G>C
c.*6414G>C (n.*6414G>C)
c.10657G>C (p.Ala3553Pro)
c.10729G>C (p.Ala3577Pro)
c.10654G>C (p.Ala3552Pro)
c.10354G>C (p.Ala3452Pro)
c.7618G>C (p.Ala2540Pro)
c.6511G>C (p.Ala2171Pro)
c.10537G>C (p.Ala3513Pro)
c.6289G>C (p.Ala2097Pro)
c.9517G>C (p.Ala3173Pro)
8g.99854046G>TCA371785019VPS13Bc.10732G>T (p.Ala3578Ser)
n.10802G>T
c.*6414G>T (n.*6414G>T)
c.10657G>T (p.Ala3553Ser)
c.10729G>T (p.Ala3577Ser)
c.10654G>T (p.Ala3552Ser)
c.10354G>T (p.Ala3452Ser)
c.7618G>T (p.Ala2540Ser)
c.6511G>T (p.Ala2171Ser)
c.10537G>T (p.Ala3513Ser)
c.6289G>T (p.Ala2097Ser)
c.9517G>T (p.Ala3173Ser)
8g.99854047C>ACA371785023VPS13Bc.10733C>A (p.Ala3578Asp)
n.10803C>A
c.*6415C>A (n.*6415C>A)
c.10658C>A (p.Ala3553Asp)
c.10730C>A (p.Ala3577Asp)
c.10655C>A (p.Ala3552Asp)
c.10355C>A (p.Ala3452Asp)
c.7619C>A (p.Ala2540Asp)
c.6512C>A (p.Ala2171Asp)
c.10538C>A (p.Ala3513Asp)
c.6290C>A (p.Ala2097Asp)
c.9518C>A (p.Ala3173Asp)
8g.99854047C>GCA371785025VPS13Bc.10733C>G (p.Ala3578Gly)
n.10803C>G
c.*6415C>G (n.*6415C>G)
c.10658C>G (p.Ala3553Gly)
c.10730C>G (p.Ala3577Gly)
c.10655C>G (p.Ala3552Gly)
c.10355C>G (p.Ala3452Gly)
c.7619C>G (p.Ala2540Gly)
c.6512C>G (p.Ala2171Gly)
c.10538C>G (p.Ala3513Gly)
c.6290C>G (p.Ala2097Gly)
c.9518C>G (p.Ala3173Gly)
 gnomAD v4
8g.99854047C>TCA371785037VPS13Bc.10733C>T (p.Ala3578Val)
n.10803C>T
c.*6415C>T (n.*6415C>T)
c.10658C>T (p.Ala3553Val)
c.10730C>T (p.Ala3577Val)
c.10655C>T (p.Ala3552Val)
c.10355C>T (p.Ala3452Val)
c.7619C>T (p.Ala2540Val)
c.6512C>T (p.Ala2171Val)
c.10538C>T (p.Ala3513Val)
c.6290C>T (p.Ala2097Val)
c.9518C>T (p.Ala3173Val)
8g.99854048C>ACA462458286VPS13Bc.10734C>A (p.Ala3578=)
n.10804C>A
c.*6416C>A (n.*6416C>A)
c.10659C>A (p.Ala3553=)
c.10731C>A (p.Ala3577=)
c.10656C>A (p.Ala3552=)
c.10356C>A (p.Ala3452=)
c.7620C>A (p.Ala2540=)
c.6513C>A (p.Ala2171=)
c.10539C>A (p.Ala3513=)
c.6291C>A (p.Ala2097=)
c.9519C>A (p.Ala3173=)
8g.99854048C>GCA462458287VPS13Bc.10734C>G (p.Ala3578=)
n.10804C>G
c.*6416C>G (n.*6416C>G)
c.10659C>G (p.Ala3553=)
c.10731C>G (p.Ala3577=)
c.10656C>G (p.Ala3552=)
c.10356C>G (p.Ala3452=)
c.7620C>G (p.Ala2540=)
c.6513C>G (p.Ala2171=)
c.10539C>G (p.Ala3513=)
c.6291C>G (p.Ala2097=)
c.9519C>G (p.Ala3173=)
 gnomAD v4
8g.99854048C>TCA462458288VPS13Bc.10734C>T (p.Ala3578=)
n.10804C>T
c.*6416C>T (n.*6416C>T)
c.10659C>T (p.Ala3553=)
c.10731C>T (p.Ala3577=)
c.10656C>T (p.Ala3552=)
c.10356C>T (p.Ala3452=)
c.7620C>T (p.Ala2540=)
c.6513C>T (p.Ala2171=)
c.10539C>T (p.Ala3513=)
c.6291C>T (p.Ala2097=)
c.9519C>T (p.Ala3173=)
 ClinVar dbSNP gnomAD v4
8g.99854049T>ACA371785041VPS13Bc.10735T>A (p.Leu3579Met)
n.10805T>A
c.*6417T>A (n.*6417T>A)
c.10660T>A (p.Leu3554Met)
c.10732T>A (p.Leu3578Met)
c.10657T>A (p.Leu3553Met)
c.10357T>A (p.Leu3453Met)
c.7621T>A (p.Leu2541Met)
c.6514T>A (p.Leu2172Met)
c.10540T>A (p.Leu3514Met)
c.6292T>A (p.Leu2098Met)
c.9520T>A (p.Leu3174Met)
8g.99854049T>CCA462458289VPS13Bc.10735T>C (p.Leu3579=)
n.10805T>C
c.*6417T>C (n.*6417T>C)
c.10660T>C (p.Leu3554=)
c.10732T>C (p.Leu3578=)
c.10657T>C (p.Leu3553=)
c.10357T>C (p.Leu3453=)
c.7621T>C (p.Leu2541=)
c.6514T>C (p.Leu2172=)
c.10540T>C (p.Leu3514=)
c.6292T>C (p.Leu2098=)
c.9520T>C (p.Leu3174=)
 ClinVar
8g.99854049T>GCA371785045VPS13Bc.10735T>G (p.Leu3579Val)
n.10805T>G
c.*6417T>G (n.*6417T>G)
c.10660T>G (p.Leu3554Val)
c.10732T>G (p.Leu3578Val)
c.10657T>G (p.Leu3553Val)
c.10357T>G (p.Leu3453Val)
c.7621T>G (p.Leu2541Val)
c.6514T>G (p.Leu2172Val)
c.10540T>G (p.Leu3514Val)
c.6292T>G (p.Leu2098Val)
c.9520T>G (p.Leu3174Val)
8g.99854050T>ACA371785049VPS13Bc.10736T>A (p.Leu3579Ter)
n.10806T>A
c.*6418T>A (n.*6418T>A)
c.10661T>A (p.Leu3554Ter)
c.10733T>A (p.Leu3578Ter)
c.10658T>A (p.Leu3553Ter)
c.10358T>A (p.Leu3453Ter)
c.7622T>A (p.Leu2541Ter)
c.6515T>A (p.Leu2172Ter)
c.10541T>A (p.Leu3514Ter)
c.6293T>A (p.Leu2098Ter)
c.9521T>A (p.Leu3174Ter)
 ClinVar
8g.99854050T>CCA371785051VPS13Bc.10736T>C (p.Leu3579Ser)
n.10806T>C
c.*6418T>C (n.*6418T>C)
c.10661T>C (p.Leu3554Ser)
c.10733T>C (p.Leu3578Ser)
c.10658T>C (p.Leu3553Ser)
c.10358T>C (p.Leu3453Ser)
c.7622T>C (p.Leu2541Ser)
c.6515T>C (p.Leu2172Ser)
c.10541T>C (p.Leu3514Ser)
c.6293T>C (p.Leu2098Ser)
c.9521T>C (p.Leu3174Ser)
8g.99854050T>GCA371785052VPS13Bc.10736T>G (p.Leu3579Trp)
n.10806T>G
c.*6418T>G (n.*6418T>G)
c.10661T>G (p.Leu3554Trp)
c.10733T>G (p.Leu3578Trp)
c.10658T>G (p.Leu3553Trp)
c.10358T>G (p.Leu3453Trp)
c.7622T>G (p.Leu2541Trp)
c.6515T>G (p.Leu2172Trp)
c.10541T>G (p.Leu3514Trp)
c.6293T>G (p.Leu2098Trp)
c.9521T>G (p.Leu3174Trp)
8g.99854051G>ACA462458290VPS13Bc.10737G>A (p.Leu3579=)
n.10807G>A
c.*6419G>A (n.*6419G>A)
c.10662G>A (p.Leu3554=)
c.10734G>A (p.Leu3578=)
c.10659G>A (p.Leu3553=)
c.10359G>A (p.Leu3453=)
c.7623G>A (p.Leu2541=)
c.6516G>A (p.Leu2172=)
c.10542G>A (p.Leu3514=)
c.6294G>A (p.Leu2098=)
c.9522G>A (p.Leu3174=)
8g.99854051G>CCA371785053VPS13Bc.10737G>C (p.Leu3579Phe)
n.10807G>C
c.*6419G>C (n.*6419G>C)
c.10662G>C (p.Leu3554Phe)
c.10734G>C (p.Leu3578Phe)
c.10659G>C (p.Leu3553Phe)
c.10359G>C (p.Leu3453Phe)
c.7623G>C (p.Leu2541Phe)
c.6516G>C (p.Leu2172Phe)
c.10542G>C (p.Leu3514Phe)
c.6294G>C (p.Leu2098Phe)
c.9522G>C (p.Leu3174Phe)
 dbSNP gnomAD v2
8g.99854051G>TCA371785054VPS13Bc.10737G>T (p.Leu3579Phe)
n.10807G>T
c.*6419G>T (n.*6419G>T)
c.10662G>T (p.Leu3554Phe)
c.10734G>T (p.Leu3578Phe)
c.10659G>T (p.Leu3553Phe)
c.10359G>T (p.Leu3453Phe)
c.7623G>T (p.Leu2541Phe)
c.6516G>T (p.Leu2172Phe)
c.10542G>T (p.Leu3514Phe)
c.6294G>T (p.Leu2098Phe)
c.9522G>T (p.Leu3174Phe)
8g.99854052G>ACA207579VPS13Bc.10738G>A (p.Val3580Met)
n.10808G>A
c.*6420G>A (n.*6420G>A)
c.10663G>A (p.Val3555Met)
c.10735G>A (p.Val3579Met)
c.10660G>A (p.Val3554Met)
c.10360G>A (p.Val3454Met)
c.7624G>A (p.Val2542Met)
c.6517G>A (p.Val2173Met)
c.10543G>A (p.Val3515Met)
c.6295G>A (p.Val2099Met)
c.9523G>A (p.Val3175Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854052G>CCA371785065VPS13Bc.10738G>C (p.Val3580Leu)
n.10808G>C
c.*6420G>C (n.*6420G>C)
c.10663G>C (p.Val3555Leu)
c.10735G>C (p.Val3579Leu)
c.10660G>C (p.Val3554Leu)
c.10360G>C (p.Val3454Leu)
c.7624G>C (p.Val2542Leu)
c.6517G>C (p.Val2173Leu)
c.10543G>C (p.Val3515Leu)
c.6295G>C (p.Val2099Leu)
c.9523G>C (p.Val3175Leu)
8g.99854052G>TCA371785058VPS13Bc.10738G>T (p.Val3580Leu)
n.10808G>T
c.*6420G>T (n.*6420G>T)
c.10663G>T (p.Val3555Leu)
c.10735G>T (p.Val3579Leu)
c.10660G>T (p.Val3554Leu)
c.10360G>T (p.Val3454Leu)
c.7624G>T (p.Val2542Leu)
c.6517G>T (p.Val2173Leu)
c.10543G>T (p.Val3515Leu)
c.6295G>T (p.Val2099Leu)
c.9523G>T (p.Val3175Leu)
8g.99854053T>ACA371785067VPS13Bc.10739T>A (p.Val3580Glu)
n.10809T>A
c.*6421T>A (n.*6421T>A)
c.10664T>A (p.Val3555Glu)
c.10736T>A (p.Val3579Glu)
c.10661T>A (p.Val3554Glu)
c.10361T>A (p.Val3454Glu)
c.7625T>A (p.Val2542Glu)
c.6518T>A (p.Val2173Glu)
c.10544T>A (p.Val3515Glu)
c.6296T>A (p.Val2099Glu)
c.9524T>A (p.Val3175Glu)
8g.99854053T>CCA371785070VPS13Bc.10739T>C (p.Val3580Ala)
n.10809T>C
c.*6421T>C (n.*6421T>C)
c.10664T>C (p.Val3555Ala)
c.10736T>C (p.Val3579Ala)
c.10661T>C (p.Val3554Ala)
c.10361T>C (p.Val3454Ala)
c.7625T>C (p.Val2542Ala)
c.6518T>C (p.Val2173Ala)
c.10544T>C (p.Val3515Ala)
c.6296T>C (p.Val2099Ala)
c.9524T>C (p.Val3175Ala)
 ClinVar dbSNP
8g.99854053T>GCA371785068VPS13Bc.10739T>G (p.Val3580Gly)
n.10809T>G
c.*6421T>G (n.*6421T>G)
c.10664T>G (p.Val3555Gly)
c.10736T>G (p.Val3579Gly)
c.10661T>G (p.Val3554Gly)
c.10361T>G (p.Val3454Gly)
c.7625T>G (p.Val2542Gly)
c.6518T>G (p.Val2173Gly)
c.10544T>G (p.Val3515Gly)
c.6296T>G (p.Val2099Gly)
c.9524T>G (p.Val3175Gly)
8g.99854054G>ACA462458291VPS13Bc.10740G>A (p.Val3580=)
n.10810G>A
c.*6422G>A (n.*6422G>A)
c.10665G>A (p.Val3555=)
c.10737G>A (p.Val3579=)
c.10662G>A (p.Val3554=)
c.10362G>A (p.Val3454=)
c.7626G>A (p.Val2542=)
c.6519G>A (p.Val2173=)
c.10545G>A (p.Val3515=)
c.6297G>A (p.Val2099=)
c.9525G>A (p.Val3175=)
 gnomAD v4
8g.99854054G>CCA462458292VPS13Bc.10740G>C (p.Val3580=)
n.10810G>C
c.*6422G>C (n.*6422G>C)
c.10665G>C (p.Val3555=)
c.10737G>C (p.Val3579=)
c.10662G>C (p.Val3554=)
c.10362G>C (p.Val3454=)
c.7626G>C (p.Val2542=)
c.6519G>C (p.Val2173=)
c.10545G>C (p.Val3515=)
c.6297G>C (p.Val2099=)
c.9525G>C (p.Val3175=)
8g.99854054G>TCA462458293VPS13Bc.10740G>T (p.Val3580=)
n.10810G>T
c.*6422G>T (n.*6422G>T)
c.10665G>T (p.Val3555=)
c.10737G>T (p.Val3579=)
c.10662G>T (p.Val3554=)
c.10362G>T (p.Val3454=)
c.7626G>T (p.Val2542=)
c.6519G>T (p.Val2173=)
c.10545G>T (p.Val3515=)
c.6297G>T (p.Val2099=)
c.9525G>T (p.Val3175=)
8g.99854055A>CCA371785074VPS13Bc.10741A>C (p.Asn3581His)
n.10811A>C
c.*6423A>C (n.*6423A>C)
c.10666A>C (p.Asn3556His)
c.10738A>C (p.Asn3580His)
c.10663A>C (p.Asn3555His)
c.10363A>C (p.Asn3455His)
c.7627A>C (p.Asn2543His)
c.6520A>C (p.Asn2174His)
c.10546A>C (p.Asn3516His)
c.6298A>C (p.Asn2100His)
c.9526A>C (p.Asn3176His)
8g.99854055A>GCA371785076VPS13Bc.10741A>G (p.Asn3581Asp)
n.10811A>G
c.*6423A>G (n.*6423A>G)
c.10666A>G (p.Asn3556Asp)
c.10738A>G (p.Asn3580Asp)
c.10663A>G (p.Asn3555Asp)
c.10363A>G (p.Asn3455Asp)
c.7627A>G (p.Asn2543Asp)
c.6520A>G (p.Asn2174Asp)
c.10546A>G (p.Asn3516Asp)
c.6298A>G (p.Asn2100Asp)
c.9526A>G (p.Asn3176Asp)
8g.99854055A>TCA371785077VPS13Bc.10741A>T (p.Asn3581Tyr)
n.10811A>T
c.*6423A>T (n.*6423A>T)
c.10666A>T (p.Asn3556Tyr)
c.10738A>T (p.Asn3580Tyr)
c.10663A>T (p.Asn3555Tyr)
c.10363A>T (p.Asn3455Tyr)
c.7627A>T (p.Asn2543Tyr)
c.6520A>T (p.Asn2174Tyr)
c.10546A>T (p.Asn3516Tyr)
c.6298A>T (p.Asn2100Tyr)
c.9526A>T (p.Asn3176Tyr)
8g.99854056A>CCA371785080VPS13Bc.10742A>C (p.Asn3581Thr)
n.10812A>C
c.*6424A>C (n.*6424A>C)
c.10667A>C (p.Asn3556Thr)
c.10739A>C (p.Asn3580Thr)
c.10664A>C (p.Asn3555Thr)
c.10364A>C (p.Asn3455Thr)
c.7628A>C (p.Asn2543Thr)
c.6521A>C (p.Asn2174Thr)
c.10547A>C (p.Asn3516Thr)
c.6299A>C (p.Asn2100Thr)
c.9527A>C (p.Asn3176Thr)
 ClinVar
8g.99854056A>GCA371785086VPS13Bc.10742A>G (p.Asn3581Ser)
n.10812A>G
c.*6424A>G (n.*6424A>G)
c.10667A>G (p.Asn3556Ser)
c.10739A>G (p.Asn3580Ser)
c.10664A>G (p.Asn3555Ser)
c.10364A>G (p.Asn3455Ser)
c.7628A>G (p.Asn2543Ser)
c.6521A>G (p.Asn2174Ser)
c.10547A>G (p.Asn3516Ser)
c.6299A>G (p.Asn2100Ser)
c.9527A>G (p.Asn3176Ser)
8g.99854056A>TCA371785090VPS13Bc.10742A>T (p.Asn3581Ile)
n.10812A>T
c.*6424A>T (n.*6424A>T)
c.10667A>T (p.Asn3556Ile)
c.10739A>T (p.Asn3580Ile)
c.10664A>T (p.Asn3555Ile)
c.10364A>T (p.Asn3455Ile)
c.7628A>T (p.Asn2543Ile)
c.6521A>T (p.Asn2174Ile)
c.10547A>T (p.Asn3516Ile)
c.6299A>T (p.Asn2100Ile)
c.9527A>T (p.Asn3176Ile)
8g.99854057T>ACA371785094VPS13Bc.10743T>A (p.Asn3581Lys)
n.10813T>A
c.*6425T>A (n.*6425T>A)
c.10668T>A (p.Asn3556Lys)
c.10740T>A (p.Asn3580Lys)
c.10665T>A (p.Asn3555Lys)
c.10365T>A (p.Asn3455Lys)
c.7629T>A (p.Asn2543Lys)
c.6522T>A (p.Asn2174Lys)
c.10548T>A (p.Asn3516Lys)
c.6300T>A (p.Asn2100Lys)
c.9528T>A (p.Asn3176Lys)
8g.99854057T>CCA462458294VPS13Bc.10743T>C (p.Asn3581=)
n.10813T>C
c.*6425T>C (n.*6425T>C)
c.10668T>C (p.Asn3556=)
c.10740T>C (p.Asn3580=)
c.10665T>C (p.Asn3555=)
c.10365T>C (p.Asn3455=)
c.7629T>C (p.Asn2543=)
c.6522T>C (p.Asn2174=)
c.10548T>C (p.Asn3516=)
c.6300T>C (p.Asn2100=)
c.9528T>C (p.Asn3176=)
8g.99854057T>GCA371785099VPS13Bc.10743T>G (p.Asn3581Lys)
n.10813T>G
c.*6425T>G (n.*6425T>G)
c.10668T>G (p.Asn3556Lys)
c.10740T>G (p.Asn3580Lys)
c.10665T>G (p.Asn3555Lys)
c.10365T>G (p.Asn3455Lys)
c.7629T>G (p.Asn2543Lys)
c.6522T>G (p.Asn2174Lys)
c.10548T>G (p.Asn3516Lys)
c.6300T>G (p.Asn2100Lys)
c.9528T>G (p.Asn3176Lys)
8g.99854058C>ACA371785101VPS13Bc.10744C>A (p.Pro3582Thr)
n.10814C>A
c.*6426C>A (n.*6426C>A)
c.10669C>A (p.Pro3557Thr)
c.10741C>A (p.Pro3581Thr)
c.10666C>A (p.Pro3556Thr)
c.10366C>A (p.Pro3456Thr)
c.7630C>A (p.Pro2544Thr)
c.6523C>A (p.Pro2175Thr)
c.10549C>A (p.Pro3517Thr)
c.6301C>A (p.Pro2101Thr)
c.9529C>A (p.Pro3177Thr)
8g.99854058C>GCA371785106VPS13Bc.10744C>G (p.Pro3582Ala)
n.10814C>G
c.*6426C>G (n.*6426C>G)
c.10669C>G (p.Pro3557Ala)
c.10741C>G (p.Pro3581Ala)
c.10666C>G (p.Pro3556Ala)
c.10366C>G (p.Pro3456Ala)
c.7630C>G (p.Pro2544Ala)
c.6523C>G (p.Pro2175Ala)
c.10549C>G (p.Pro3517Ala)
c.6301C>G (p.Pro2101Ala)
c.9529C>G (p.Pro3177Ala)
8g.99854058C>TCA371785109VPS13Bc.10744C>T (p.Pro3582Ser)
n.10814C>T
c.*6426C>T (n.*6426C>T)
c.10669C>T (p.Pro3557Ser)
c.10741C>T (p.Pro3581Ser)
c.10666C>T (p.Pro3556Ser)
c.10366C>T (p.Pro3456Ser)
c.7630C>T (p.Pro2544Ser)
c.6523C>T (p.Pro2175Ser)
c.10549C>T (p.Pro3517Ser)
c.6301C>T (p.Pro2101Ser)
c.9529C>T (p.Pro3177Ser)
8g.99854059C>ACA182314698VPS13Bc.10745C>A (p.Pro3582His)
n.10815C>A
c.*6427C>A (n.*6427C>A)
c.10670C>A (p.Pro3557His)
c.10742C>A (p.Pro3581His)
c.10667C>A (p.Pro3556His)
c.10367C>A (p.Pro3456His)
c.7631C>A (p.Pro2544His)
c.6524C>A (p.Pro2175His)
c.10550C>A (p.Pro3517His)
c.6302C>A (p.Pro2101His)
c.9530C>A (p.Pro3177His)
 dbSNP
8g.99854059C>GCA371785117VPS13Bc.10745C>G (p.Pro3582Arg)
n.10815C>G
c.*6427C>G (n.*6427C>G)
c.10670C>G (p.Pro3557Arg)
c.10742C>G (p.Pro3581Arg)
c.10667C>G (p.Pro3556Arg)
c.10367C>G (p.Pro3456Arg)
c.7631C>G (p.Pro2544Arg)
c.6524C>G (p.Pro2175Arg)
c.10550C>G (p.Pro3517Arg)
c.6302C>G (p.Pro2101Arg)
c.9530C>G (p.Pro3177Arg)
8g.99854059C>TCA371785112VPS13Bc.10745C>T (p.Pro3582Leu)
n.10815C>T
c.*6427C>T (n.*6427C>T)
c.10670C>T (p.Pro3557Leu)
c.10742C>T (p.Pro3581Leu)
c.10667C>T (p.Pro3556Leu)
c.10367C>T (p.Pro3456Leu)
c.7631C>T (p.Pro2544Leu)
c.6524C>T (p.Pro2175Leu)
c.10550C>T (p.Pro3517Leu)
c.6302C>T (p.Pro2101Leu)
c.9530C>T (p.Pro3177Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99854060T>ACA462458297VPS13Bc.10746T>A (p.Pro3582=)
n.10816T>A
c.*6428T>A (n.*6428T>A)
c.10671T>A (p.Pro3557=)
c.10743T>A (p.Pro3581=)
c.10668T>A (p.Pro3556=)
c.10368T>A (p.Pro3456=)
c.7632T>A (p.Pro2544=)
c.6525T>A (p.Pro2175=)
c.10551T>A (p.Pro3517=)
c.6303T>A (p.Pro2101=)
c.9531T>A (p.Pro3177=)
8g.99854060T>CCA462458296VPS13Bc.10746T>C (p.Pro3582=)
n.10816T>C
c.*6428T>C (n.*6428T>C)
c.10671T>C (p.Pro3557=)
c.10743T>C (p.Pro3581=)
c.10668T>C (p.Pro3556=)
c.10368T>C (p.Pro3456=)
c.7632T>C (p.Pro2544=)
c.6525T>C (p.Pro2175=)
c.10551T>C (p.Pro3517=)
c.6303T>C (p.Pro2101=)
c.9531T>C (p.Pro3177=)
8g.99854060T>GCA462458295VPS13Bc.10746T>G (p.Pro3582=)
n.10816T>G
c.*6428T>G (n.*6428T>G)
c.10671T>G (p.Pro3557=)
c.10743T>G (p.Pro3581=)
c.10668T>G (p.Pro3556=)
c.10368T>G (p.Pro3456=)
c.7632T>G (p.Pro2544=)
c.6525T>G (p.Pro2175=)
c.10551T>G (p.Pro3517=)
c.6303T>G (p.Pro2101=)
c.9531T>G (p.Pro3177=)
8g.99854061G>ACA371785124VPS13Bc.10747G>A (p.Val3583Met)
n.10817G>A
c.*6429G>A (n.*6429G>A)
c.10672G>A (p.Val3558Met)
c.10744G>A (p.Val3582Met)
c.10669G>A (p.Val3557Met)
c.10369G>A (p.Val3457Met)
c.7633G>A (p.Val2545Met)
c.6526G>A (p.Val2176Met)
c.10552G>A (p.Val3518Met)
c.6304G>A (p.Val2102Met)
c.9532G>A (p.Val3178Met)
8g.99854061G>CCA371785127VPS13Bc.10747G>C (p.Val3583Leu)
n.10817G>C
c.*6429G>C (n.*6429G>C)
c.10672G>C (p.Val3558Leu)
c.10744G>C (p.Val3582Leu)
c.10669G>C (p.Val3557Leu)
c.10369G>C (p.Val3457Leu)
c.7633G>C (p.Val2545Leu)
c.6526G>C (p.Val2176Leu)
c.10552G>C (p.Val3518Leu)
c.6304G>C (p.Val2102Leu)
c.9532G>C (p.Val3178Leu)
8g.99854061G>TCA371785130VPS13Bc.10747G>T (p.Val3583Leu)
n.10817G>T
c.*6429G>T (n.*6429G>T)
c.10672G>T (p.Val3558Leu)
c.10744G>T (p.Val3582Leu)
c.10669G>T (p.Val3557Leu)
c.10369G>T (p.Val3457Leu)
c.7633G>T (p.Val2545Leu)
c.6526G>T (p.Val2176Leu)
c.10552G>T (p.Val3518Leu)
c.6304G>T (p.Val2102Leu)
c.9532G>T (p.Val3178Leu)
8g.99854062T>ACA371785136VPS13Bc.10748T>A (p.Val3583Glu)
n.10818T>A
c.*6430T>A (n.*6430T>A)
c.10673T>A (p.Val3558Glu)
c.10745T>A (p.Val3582Glu)
c.10670T>A (p.Val3557Glu)
c.10370T>A (p.Val3457Glu)
c.7634T>A (p.Val2545Glu)
c.6527T>A (p.Val2176Glu)
c.10553T>A (p.Val3518Glu)
c.6305T>A (p.Val2102Glu)
c.9533T>A (p.Val3178Glu)
8g.99854062T>CCA371785139VPS13Bc.10748T>C (p.Val3583Ala)
n.10818T>C
c.*6430T>C (n.*6430T>C)
c.10673T>C (p.Val3558Ala)
c.10745T>C (p.Val3582Ala)
c.10670T>C (p.Val3557Ala)
c.10370T>C (p.Val3457Ala)
c.7634T>C (p.Val2545Ala)
c.6527T>C (p.Val2176Ala)
c.10553T>C (p.Val3518Ala)
c.6305T>C (p.Val2102Ala)
c.9533T>C (p.Val3178Ala)
8g.99854062T>GCA371785140VPS13Bc.10748T>G (p.Val3583Gly)
n.10818T>G
c.*6430T>G (n.*6430T>G)
c.10673T>G (p.Val3558Gly)
c.10745T>G (p.Val3582Gly)
c.10670T>G (p.Val3557Gly)
c.10370T>G (p.Val3457Gly)
c.7634T>G (p.Val2545Gly)
c.6527T>G (p.Val2176Gly)
c.10553T>G (p.Val3518Gly)
c.6305T>G (p.Val2102Gly)
c.9533T>G (p.Val3178Gly)
8g.99854062dupCA16041270VPS13Bc.10748dup (p.Lys3584GlufsTer?)
n.10818dup
c.*6430dup (n.*6430dup)
c.10673dup (p.Lys3559GlufsTer?)
c.10745dup (p.Lys3583GlufsTer?)
c.10670dup (p.Lys3558GlufsTer?)
c.10370dup (p.Lys3458GlufsTer?)
c.7634dup (p.Lys2546GlufsTer?)
c.6527dup (p.Lys2177GlufsTer?)
c.10553dup (p.Lys3519GlufsTer?)
c.6305dup (p.Lys2103GlufsTer?)
c.9533dup (p.Lys3179GlufsTer?)
 ClinVar dbSNP
8g.99854063G>ACA462458300VPS13Bc.10749G>A (p.Val3583=)
n.10819G>A
c.*6431G>A (n.*6431G>A)
c.10674G>A (p.Val3558=)
c.10746G>A (p.Val3582=)
c.10671G>A (p.Val3557=)
c.10371G>A (p.Val3457=)
c.7635G>A (p.Val2545=)
c.6528G>A (p.Val2176=)
c.10554G>A (p.Val3518=)
c.6306G>A (p.Val2102=)
c.9534G>A (p.Val3178=)
8g.99854063G>CCA462458299VPS13Bc.10749G>C (p.Val3583=)
n.10819G>C
c.*6431G>C (n.*6431G>C)
c.10674G>C (p.Val3558=)
c.10746G>C (p.Val3582=)
c.10671G>C (p.Val3557=)
c.10371G>C (p.Val3457=)
c.7635G>C (p.Val2545=)
c.6528G>C (p.Val2176=)
c.10554G>C (p.Val3518=)
c.6306G>C (p.Val2102=)
c.9534G>C (p.Val3178=)
8g.99854063G>TCA462458298VPS13Bc.10749G>T (p.Val3583=)
n.10819G>T
c.*6431G>T (n.*6431G>T)
c.10674G>T (p.Val3558=)
c.10746G>T (p.Val3582=)
c.10671G>T (p.Val3557=)
c.10371G>T (p.Val3457=)
c.7635G>T (p.Val2545=)
c.6528G>T (p.Val2176=)
c.10554G>T (p.Val3518=)
c.6306G>T (p.Val2102=)
c.9534G>T (p.Val3178=)
8g.99854064A>CCA371785141VPS13Bc.10750A>C (p.Lys3584Gln)
n.10820A>C
c.*6432A>C (n.*6432A>C)
c.10675A>C (p.Lys3559Gln)
c.10747A>C (p.Lys3583Gln)
c.10672A>C (p.Lys3558Gln)
c.10372A>C (p.Lys3458Gln)
c.7636A>C (p.Lys2546Gln)
c.6529A>C (p.Lys2177Gln)
c.10555A>C (p.Lys3519Gln)
c.6307A>C (p.Lys2103Gln)
c.9535A>C (p.Lys3179Gln)
8g.99854064A>GCA371785142VPS13Bc.10750A>G (p.Lys3584Glu)
n.10820A>G
c.*6432A>G (n.*6432A>G)
c.10675A>G (p.Lys3559Glu)
c.10747A>G (p.Lys3583Glu)
c.10672A>G (p.Lys3558Glu)
c.10372A>G (p.Lys3458Glu)
c.7636A>G (p.Lys2546Glu)
c.6529A>G (p.Lys2177Glu)
c.10555A>G (p.Lys3519Glu)
c.6307A>G (p.Lys2103Glu)
c.9535A>G (p.Lys3179Glu)
8g.99854064A>TCA371785145VPS13Bc.10750A>T (p.Lys3584Ter)
n.10820A>T
c.*6432A>T (n.*6432A>T)
c.10675A>T (p.Lys3559Ter)
c.10747A>T (p.Lys3583Ter)
c.10672A>T (p.Lys3558Ter)
c.10372A>T (p.Lys3458Ter)
c.7636A>T (p.Lys2546Ter)
c.6529A>T (p.Lys2177Ter)
c.10555A>T (p.Lys3519Ter)
c.6307A>T (p.Lys2103Ter)
c.9535A>T (p.Lys3179Ter)
 ClinVar
8g.99854065A>CCA371785148VPS13Bc.10751A>C (p.Lys3584Thr)
n.10821A>C
c.*6433A>C (n.*6433A>C)
c.10676A>C (p.Lys3559Thr)
c.10748A>C (p.Lys3583Thr)
c.10673A>C (p.Lys3558Thr)
c.10373A>C (p.Lys3458Thr)
c.7637A>C (p.Lys2546Thr)
c.6530A>C (p.Lys2177Thr)
c.10556A>C (p.Lys3519Thr)
c.6308A>C (p.Lys2103Thr)
c.9536A>C (p.Lys3179Thr)
8g.99854065A>GCA371785149VPS13Bc.10751A>G (p.Lys3584Arg)
n.10821A>G
c.*6433A>G (n.*6433A>G)
c.10676A>G (p.Lys3559Arg)
c.10748A>G (p.Lys3583Arg)
c.10673A>G (p.Lys3558Arg)
c.10373A>G (p.Lys3458Arg)
c.7637A>G (p.Lys2546Arg)
c.6530A>G (p.Lys2177Arg)
c.10556A>G (p.Lys3519Arg)
c.6308A>G (p.Lys2103Arg)
c.9536A>G (p.Lys3179Arg)
8g.99854065A>TCA371785150VPS13Bc.10751A>T (p.Lys3584Met)
n.10821A>T
c.*6433A>T (n.*6433A>T)
c.10676A>T (p.Lys3559Met)
c.10748A>T (p.Lys3583Met)
c.10673A>T (p.Lys3558Met)
c.10373A>T (p.Lys3458Met)
c.7637A>T (p.Lys2546Met)
c.6530A>T (p.Lys2177Met)
c.10556A>T (p.Lys3519Met)
c.6308A>T (p.Lys2103Met)
c.9536A>T (p.Lys3179Met)
8g.99854066G>ACA462458301VPS13Bc.10752G>A (p.Lys3584=)
n.10822G>A
c.*6434G>A (n.*6434G>A)
c.10677G>A (p.Lys3559=)
c.10749G>A (p.Lys3583=)
c.10674G>A (p.Lys3558=)
c.10374G>A (p.Lys3458=)
c.7638G>A (p.Lys2546=)
c.6531G>A (p.Lys2177=)
c.10557G>A (p.Lys3519=)
c.6309G>A (p.Lys2103=)
c.9537G>A (p.Lys3179=)
8g.99854066G>CCA371785158VPS13Bc.10752G>C (p.Lys3584Asn)
n.10822G>C
c.*6434G>C (n.*6434G>C)
c.10677G>C (p.Lys3559Asn)
c.10749G>C (p.Lys3583Asn)
c.10674G>C (p.Lys3558Asn)
c.10374G>C (p.Lys3458Asn)
c.7638G>C (p.Lys2546Asn)
c.6531G>C (p.Lys2177Asn)
c.10557G>C (p.Lys3519Asn)
c.6309G>C (p.Lys2103Asn)
c.9537G>C (p.Lys3179Asn)
8g.99854066G>TCA371785155VPS13Bc.10752G>T (p.Lys3584Asn)
n.10822G>T
c.*6434G>T (n.*6434G>T)
c.10677G>T (p.Lys3559Asn)
c.10749G>T (p.Lys3583Asn)
c.10674G>T (p.Lys3558Asn)
c.10374G>T (p.Lys3458Asn)
c.7638G>T (p.Lys2546Asn)
c.6531G>T (p.Lys2177Asn)
c.10557G>T (p.Lys3519Asn)
c.6309G>T (p.Lys2103Asn)
c.9537G>T (p.Lys3179Asn)
8g.99854067T>ACA371785164VPS13Bc.10753T>A (p.Leu3585Ile)
n.10823T>A
c.*6435T>A (n.*6435T>A)
c.10678T>A (p.Leu3560Ile)
c.10750T>A (p.Leu3584Ile)
c.10675T>A (p.Leu3559Ile)
c.10375T>A (p.Leu3459Ile)
c.7639T>A (p.Leu2547Ile)
c.6532T>A (p.Leu2178Ile)
c.10558T>A (p.Leu3520Ile)
c.6310T>A (p.Leu2104Ile)
c.9538T>A (p.Leu3180Ile)
8g.99854067T>CCA462458302VPS13Bc.10753T>C (p.Leu3585=)
n.10823T>C
c.*6435T>C (n.*6435T>C)
c.10678T>C (p.Leu3560=)
c.10750T>C (p.Leu3584=)
c.10675T>C (p.Leu3559=)
c.10375T>C (p.Leu3459=)
c.7639T>C (p.Leu2547=)
c.6532T>C (p.Leu2178=)
c.10558T>C (p.Leu3520=)
c.6310T>C (p.Leu2104=)
c.9538T>C (p.Leu3180=)
8g.99854067T>GCA371785165VPS13Bc.10753T>G (p.Leu3585Val)
n.10823T>G
c.*6435T>G (n.*6435T>G)
c.10678T>G (p.Leu3560Val)
c.10750T>G (p.Leu3584Val)
c.10675T>G (p.Leu3559Val)
c.10375T>G (p.Leu3459Val)
c.7639T>G (p.Leu2547Val)
c.6532T>G (p.Leu2178Val)
c.10558T>G (p.Leu3520Val)
c.6310T>G (p.Leu2104Val)
c.9538T>G (p.Leu3180Val)
8g.99854068T>ACA371785166VPS13Bc.10754T>A (p.Leu3585Ter)
n.10824T>A
c.*6436T>A (n.*6436T>A)
c.10679T>A (p.Leu3560Ter)
c.10751T>A (p.Leu3584Ter)
c.10676T>A (p.Leu3559Ter)
c.10376T>A (p.Leu3459Ter)
c.7640T>A (p.Leu2547Ter)
c.6533T>A (p.Leu2178Ter)
c.10559T>A (p.Leu3520Ter)
c.6311T>A (p.Leu2104Ter)
c.9539T>A (p.Leu3180Ter)
8g.99854068T>CCA371785169VPS13Bc.10754T>C (p.Leu3585Ser)
n.10824T>C
c.*6436T>C (n.*6436T>C)
c.10679T>C (p.Leu3560Ser)
c.10751T>C (p.Leu3584Ser)
c.10676T>C (p.Leu3559Ser)
c.10376T>C (p.Leu3459Ser)
c.7640T>C (p.Leu2547Ser)
c.6533T>C (p.Leu2178Ser)
c.10559T>C (p.Leu3520Ser)
c.6311T>C (p.Leu2104Ser)
c.9539T>C (p.Leu3180Ser)
8g.99854068T>GCA371785171VPS13Bc.10754T>G (p.Leu3585Ter)
n.10824T>G
c.*6436T>G (n.*6436T>G)
c.10679T>G (p.Leu3560Ter)
c.10751T>G (p.Leu3584Ter)
c.10676T>G (p.Leu3559Ter)
c.10376T>G (p.Leu3459Ter)
c.7640T>G (p.Leu2547Ter)
c.6533T>G (p.Leu2178Ter)
c.10559T>G (p.Leu3520Ter)
c.6311T>G (p.Leu2104Ter)
c.9539T>G (p.Leu3180Ter)
8g.99854069A>CCA371785174VPS13Bc.10755A>C (p.Leu3585Phe)
n.10825A>C
c.*6437A>C (n.*6437A>C)
c.10680A>C (p.Leu3560Phe)
c.10752A>C (p.Leu3584Phe)
c.10677A>C (p.Leu3559Phe)
c.10377A>C (p.Leu3459Phe)
c.7641A>C (p.Leu2547Phe)
c.6534A>C (p.Leu2178Phe)
c.10560A>C (p.Leu3520Phe)
c.6312A>C (p.Leu2104Phe)
c.9540A>C (p.Leu3180Phe)
8g.99854069A>GCA4824994VPS13Bc.10755A>G (p.Leu3585=)
n.10825A>G
c.*6437A>G (n.*6437A>G)
c.10680A>G (p.Leu3560=)
c.10752A>G (p.Leu3584=)
c.10677A>G (p.Leu3559=)
c.10377A>G (p.Leu3459=)
c.7641A>G (p.Leu2547=)
c.6534A>G (p.Leu2178=)
c.10560A>G (p.Leu3520=)
c.6312A>G (p.Leu2104=)
c.9540A>G (p.Leu3180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854069A>TCA371785178VPS13Bc.10755A>T (p.Leu3585Phe)
n.10825A>T
c.*6437A>T (n.*6437A>T)
c.10680A>T (p.Leu3560Phe)
c.10752A>T (p.Leu3584Phe)
c.10677A>T (p.Leu3559Phe)
c.10377A>T (p.Leu3459Phe)
c.7641A>T (p.Leu2547Phe)
c.6534A>T (p.Leu2178Phe)
c.10560A>T (p.Leu3520Phe)
c.6312A>T (p.Leu2104Phe)
c.9540A>T (p.Leu3180Phe)
8g.99854070C>ACA462458303VPS13Bc.10756C>A (p.Arg3586=)
n.10826C>A
c.*6438C>A (n.*6438C>A)
c.10681C>A (p.Arg3561=)
c.10753C>A (p.Arg3585=)
c.10678C>A (p.Arg3560=)
c.10378C>A (p.Arg3460=)
c.7642C>A (p.Arg2548=)
c.6535C>A (p.Arg2179=)
c.10561C>A (p.Arg3521=)
c.6313C>A (p.Arg2105=)
c.9541C>A (p.Arg3181=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99854070C>GCA371785179VPS13Bc.10756C>G (p.Arg3586Gly)
n.10826C>G
c.*6438C>G (n.*6438C>G)
c.10681C>G (p.Arg3561Gly)
c.10753C>G (p.Arg3585Gly)
c.10678C>G (p.Arg3560Gly)
c.10378C>G (p.Arg3460Gly)
c.7642C>G (p.Arg2548Gly)
c.6535C>G (p.Arg2179Gly)
c.10561C>G (p.Arg3521Gly)
c.6313C>G (p.Arg2105Gly)
c.9541C>G (p.Arg3181Gly)
8g.99854070C>TCA4824995VPS13Bc.10756C>T (p.Arg3586Trp)
n.10826C>T
c.*6438C>T (n.*6438C>T)
c.10681C>T (p.Arg3561Trp)
c.10753C>T (p.Arg3585Trp)
c.10678C>T (p.Arg3560Trp)
c.10378C>T (p.Arg3460Trp)
c.7642C>T (p.Arg2548Trp)
c.6535C>T (p.Arg2179Trp)
c.10561C>T (p.Arg3521Trp)
c.6313C>T (p.Arg2105Trp)
c.9541C>T (p.Arg3181Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99854071G>ACA4824996VPS13Bc.10757G>A (p.Arg3586Gln)
n.10827G>A
c.*6439G>A (n.*6439G>A)
c.10682G>A (p.Arg3561Gln)
c.10754G>A (p.Arg3585Gln)
c.10679G>A (p.Arg3560Gln)
c.10379G>A (p.Arg3460Gln)
c.7643G>A (p.Arg2548Gln)
c.6536G>A (p.Arg2179Gln)
c.10562G>A (p.Arg3521Gln)
c.6314G>A (p.Arg2105Gln)
c.9542G>A (p.Arg3181Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854071G>CCA371785184VPS13Bc.10757G>C (p.Arg3586Pro)
n.10827G>C
c.*6439G>C (n.*6439G>C)
c.10682G>C (p.Arg3561Pro)
c.10754G>C (p.Arg3585Pro)
c.10679G>C (p.Arg3560Pro)
c.10379G>C (p.Arg3460Pro)
c.7643G>C (p.Arg2548Pro)
c.6536G>C (p.Arg2179Pro)
c.10562G>C (p.Arg3521Pro)
c.6314G>C (p.Arg2105Pro)
c.9542G>C (p.Arg3181Pro)
 gnomAD v4
8g.99854071G>TCA371785186VPS13Bc.10757G>T (p.Arg3586Leu)
n.10827G>T
c.*6439G>T (n.*6439G>T)
c.10682G>T (p.Arg3561Leu)
c.10754G>T (p.Arg3585Leu)
c.10679G>T (p.Arg3560Leu)
c.10379G>T (p.Arg3460Leu)
c.7643G>T (p.Arg2548Leu)
c.6536G>T (p.Arg2179Leu)
c.10562G>T (p.Arg3521Leu)
c.6314G>T (p.Arg2105Leu)
c.9542G>T (p.Arg3181Leu)
8g.99854072G>ACA462458304VPS13Bc.10758G>A (p.Arg3586=)
n.10828G>A
c.*6440G>A (n.*6440G>A)
c.10683G>A (p.Arg3561=)
c.10755G>A (p.Arg3585=)
c.10680G>A (p.Arg3560=)
c.10380G>A (p.Arg3460=)
c.7644G>A (p.Arg2548=)
c.6537G>A (p.Arg2179=)
c.10563G>A (p.Arg3521=)
c.6315G>A (p.Arg2105=)
c.9543G>A (p.Arg3181=)
8g.99854072G>CCA462458305VPS13Bc.10758G>C (p.Arg3586=)
n.10828G>C
c.*6440G>C (n.*6440G>C)
c.10683G>C (p.Arg3561=)
c.10755G>C (p.Arg3585=)
c.10680G>C (p.Arg3560=)
c.10380G>C (p.Arg3460=)
c.7644G>C (p.Arg2548=)
c.6537G>C (p.Arg2179=)
c.10563G>C (p.Arg3521=)
c.6315G>C (p.Arg2105=)
c.9543G>C (p.Arg3181=)
8g.99854072G>TCA462458306VPS13Bc.10758G>T (p.Arg3586=)
n.10828G>T
c.*6440G>T (n.*6440G>T)
c.10683G>T (p.Arg3561=)
c.10755G>T (p.Arg3585=)
c.10680G>T (p.Arg3560=)
c.10380G>T (p.Arg3460=)
c.7644G>T (p.Arg2548=)
c.6537G>T (p.Arg2179=)
c.10563G>T (p.Arg3521=)
c.6315G>T (p.Arg2105=)
c.9543G>T (p.Arg3181=)
8g.99854073A>CCA371785189VPS13Bc.10759A>C (p.Lys3587Gln)
n.10829A>C
c.*6441A>C (n.*6441A>C)
c.10684A>C (p.Lys3562Gln)
c.10756A>C (p.Lys3586Gln)
c.10681A>C (p.Lys3561Gln)
c.10381A>C (p.Lys3461Gln)
c.7645A>C (p.Lys2549Gln)
c.6538A>C (p.Lys2180Gln)
c.10564A>C (p.Lys3522Gln)
c.6316A>C (p.Lys2106Gln)
c.9544A>C (p.Lys3182Gln)
 gnomAD v4
8g.99854073A>GCA4824997VPS13Bc.10759A>G (p.Lys3587Glu)
n.10829A>G
c.*6441A>G (n.*6441A>G)
c.10684A>G (p.Lys3562Glu)
c.10756A>G (p.Lys3586Glu)
c.10681A>G (p.Lys3561Glu)
c.10381A>G (p.Lys3461Glu)
c.7645A>G (p.Lys2549Glu)
c.6538A>G (p.Lys2180Glu)
c.10564A>G (p.Lys3522Glu)
c.6316A>G (p.Lys2106Glu)
c.9544A>G (p.Lys3182Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854073A>TCA371785187VPS13Bc.10759A>T (p.Lys3587Ter)
n.10829A>T
c.*6441A>T (n.*6441A>T)
c.10684A>T (p.Lys3562Ter)
c.10756A>T (p.Lys3586Ter)
c.10681A>T (p.Lys3561Ter)
c.10381A>T (p.Lys3461Ter)
c.7645A>T (p.Lys2549Ter)
c.6538A>T (p.Lys2180Ter)
c.10564A>T (p.Lys3522Ter)
c.6316A>T (p.Lys2106Ter)
c.9544A>T (p.Lys3182Ter)
8g.99854074A>CCA371785192VPS13Bc.10760A>C (p.Lys3587Thr)
n.10830A>C
c.*6442A>C (n.*6442A>C)
c.10685A>C (p.Lys3562Thr)
c.10757A>C (p.Lys3586Thr)
c.10682A>C (p.Lys3561Thr)
c.10382A>C (p.Lys3461Thr)
c.7646A>C (p.Lys2549Thr)
c.6539A>C (p.Lys2180Thr)
c.10565A>C (p.Lys3522Thr)
c.6317A>C (p.Lys2106Thr)
c.9545A>C (p.Lys3182Thr)
8g.99854074A>GCA371785193VPS13Bc.10760A>G (p.Lys3587Arg)
n.10830A>G
c.*6442A>G (n.*6442A>G)
c.10685A>G (p.Lys3562Arg)
c.10757A>G (p.Lys3586Arg)
c.10682A>G (p.Lys3561Arg)
c.10382A>G (p.Lys3461Arg)
c.7646A>G (p.Lys2549Arg)
c.6539A>G (p.Lys2180Arg)
c.10565A>G (p.Lys3522Arg)
c.6317A>G (p.Lys2106Arg)
c.9545A>G (p.Lys3182Arg)
8g.99854074A>TCA371785196VPS13Bc.10760A>T (p.Lys3587Ile)
n.10830A>T
c.*6442A>T (n.*6442A>T)
c.10685A>T (p.Lys3562Ile)
c.10757A>T (p.Lys3586Ile)
c.10682A>T (p.Lys3561Ile)
c.10382A>T (p.Lys3461Ile)
c.7646A>T (p.Lys2549Ile)
c.6539A>T (p.Lys2180Ile)
c.10565A>T (p.Lys3522Ile)
c.6317A>T (p.Lys2106Ile)
c.9545A>T (p.Lys3182Ile)
8g.99854075A>CCA371785198VPS13Bc.10761A>C (p.Lys3587Asn)
n.10831A>C
c.*6443A>C (n.*6443A>C)
c.10686A>C (p.Lys3562Asn)
c.10758A>C (p.Lys3586Asn)
c.10683A>C (p.Lys3561Asn)
c.10383A>C (p.Lys3461Asn)
c.7647A>C (p.Lys2549Asn)
c.6540A>C (p.Lys2180Asn)
c.10566A>C (p.Lys3522Asn)
c.6318A>C (p.Lys2106Asn)
c.9546A>C (p.Lys3182Asn)
8g.99854075A>GCA462458307VPS13Bc.10761A>G (p.Lys3587=)
n.10831A>G
c.*6443A>G (n.*6443A>G)
c.10686A>G (p.Lys3562=)
c.10758A>G (p.Lys3586=)
c.10683A>G (p.Lys3561=)
c.10383A>G (p.Lys3461=)
c.7647A>G (p.Lys2549=)
c.6540A>G (p.Lys2180=)
c.10566A>G (p.Lys3522=)
c.6318A>G (p.Lys2106=)
c.9546A>G (p.Lys3182=)
8g.99854075A>TCA371785200VPS13Bc.10761A>T (p.Lys3587Asn)
n.10831A>T
c.*6443A>T (n.*6443A>T)
c.10686A>T (p.Lys3562Asn)
c.10758A>T (p.Lys3586Asn)
c.10683A>T (p.Lys3561Asn)
c.10383A>T (p.Lys3461Asn)
c.7647A>T (p.Lys2549Asn)
c.6540A>T (p.Lys2180Asn)
c.10566A>T (p.Lys3522Asn)
c.6318A>T (p.Lys2106Asn)
c.9546A>T (p.Lys3182Asn)
8g.99854076C>ACA371785204VPS13Bc.10762C>A (p.Leu3588Met)
n.10832C>A
c.*6444C>A (n.*6444C>A)
c.10687C>A (p.Leu3563Met)
c.10759C>A (p.Leu3587Met)
c.10684C>A (p.Leu3562Met)
c.10384C>A (p.Leu3462Met)
c.7648C>A (p.Leu2550Met)
c.6541C>A (p.Leu2181Met)
c.10567C>A (p.Leu3523Met)
c.6319C>A (p.Leu2107Met)
c.9547C>A (p.Leu3183Met)
8g.99854076C>GCA371785208VPS13Bc.10762C>G (p.Leu3588Val)
n.10832C>G
c.*6444C>G (n.*6444C>G)
c.10687C>G (p.Leu3563Val)
c.10759C>G (p.Leu3587Val)
c.10684C>G (p.Leu3562Val)
c.10384C>G (p.Leu3462Val)
c.7648C>G (p.Leu2550Val)
c.6541C>G (p.Leu2181Val)
c.10567C>G (p.Leu3523Val)
c.6319C>G (p.Leu2107Val)
c.9547C>G (p.Leu3183Val)
8g.99854076C>TCA462458308VPS13Bc.10762C>T (p.Leu3588=)
n.10832C>T
c.*6444C>T (n.*6444C>T)
c.10687C>T (p.Leu3563=)
c.10759C>T (p.Leu3587=)
c.10684C>T (p.Leu3562=)
c.10384C>T (p.Leu3462=)
c.7648C>T (p.Leu2550=)
c.6541C>T (p.Leu2181=)
c.10567C>T (p.Leu3523=)
c.6319C>T (p.Leu2107=)
c.9547C>T (p.Leu3183=)
 gnomAD v4
8g.99854077T>ACA371785211VPS13Bc.10763T>A (p.Leu3588Gln)
n.10833T>A
c.*6445T>A (n.*6445T>A)
c.10688T>A (p.Leu3563Gln)
c.10760T>A (p.Leu3587Gln)
c.10685T>A (p.Leu3562Gln)
c.10385T>A (p.Leu3462Gln)
c.7649T>A (p.Leu2550Gln)
c.6542T>A (p.Leu2181Gln)
c.10568T>A (p.Leu3523Gln)
c.6320T>A (p.Leu2107Gln)
c.9548T>A (p.Leu3183Gln)
8g.99854077T>CCA4824998VPS13Bc.10763T>C (p.Leu3588Pro)
n.10833T>C
c.*6445T>C (n.*6445T>C)
c.10688T>C (p.Leu3563Pro)
c.10760T>C (p.Leu3587Pro)
c.10685T>C (p.Leu3562Pro)
c.10385T>C (p.Leu3462Pro)
c.7649T>C (p.Leu2550Pro)
c.6542T>C (p.Leu2181Pro)
c.10568T>C (p.Leu3523Pro)
c.6320T>C (p.Leu2107Pro)
c.9548T>C (p.Leu3183Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854077T>GCA371785216VPS13Bc.10763T>G (p.Leu3588Arg)
n.10833T>G
c.*6445T>G (n.*6445T>G)
c.10688T>G (p.Leu3563Arg)
c.10760T>G (p.Leu3587Arg)
c.10685T>G (p.Leu3562Arg)
c.10385T>G (p.Leu3462Arg)
c.7649T>G (p.Leu2550Arg)
c.6542T>G (p.Leu2181Arg)
c.10568T>G (p.Leu3523Arg)
c.6320T>G (p.Leu2107Arg)
c.9548T>G (p.Leu3183Arg)
8g.99854078G>ACA462458309VPS13Bc.10764G>A (p.Leu3588=)
n.10834G>A
c.*6446G>A (n.*6446G>A)
c.10689G>A (p.Leu3563=)
c.10761G>A (p.Leu3587=)
c.10686G>A (p.Leu3562=)
c.10386G>A (p.Leu3462=)
c.7650G>A (p.Leu2550=)
c.6543G>A (p.Leu2181=)
c.10569G>A (p.Leu3523=)
c.6321G>A (p.Leu2107=)
c.9549G>A (p.Leu3183=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99854078G>CCA462458310VPS13Bc.10764G>C (p.Leu3588=)
n.10834G>C
c.*6446G>C (n.*6446G>C)
c.10689G>C (p.Leu3563=)
c.10761G>C (p.Leu3587=)
c.10686G>C (p.Leu3562=)
c.10386G>C (p.Leu3462=)
c.7650G>C (p.Leu2550=)
c.6543G>C (p.Leu2181=)
c.10569G>C (p.Leu3523=)
c.6321G>C (p.Leu2107=)
c.9549G>C (p.Leu3183=)
8g.99854078G>TCA462458311VPS13Bc.10764G>T (p.Leu3588=)
n.10834G>T
c.*6446G>T (n.*6446G>T)
c.10689G>T (p.Leu3563=)
c.10761G>T (p.Leu3587=)
c.10686G>T (p.Leu3562=)
c.10386G>T (p.Leu3462=)
c.7650G>T (p.Leu2550=)
c.6543G>T (p.Leu2181=)
c.10569G>T (p.Leu3523=)
c.6321G>T (p.Leu2107=)
c.9549G>T (p.Leu3183=)
8g.99854079G>ACA4825000VPS13Bc.10765G>A (p.Val3589Met)
n.10835G>A
c.*6447G>A (n.*6447G>A)
c.10690G>A (p.Val3564Met)
c.10762G>A (p.Val3588Met)
c.10687G>A (p.Val3563Met)
c.10387G>A (p.Val3463Met)
c.7651G>A (p.Val2551Met)
c.6544G>A (p.Val2182Met)
c.10570G>A (p.Val3524Met)
c.6322G>A (p.Val2108Met)
c.9550G>A (p.Val3184Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854079G>CCA4824999VPS13Bc.10765G>C (p.Val3589Leu)
n.10835G>C
c.*6447G>C (n.*6447G>C)
c.10690G>C (p.Val3564Leu)
c.10762G>C (p.Val3588Leu)
c.10687G>C (p.Val3563Leu)
c.10387G>C (p.Val3463Leu)
c.7651G>C (p.Val2551Leu)
c.6544G>C (p.Val2182Leu)
c.10570G>C (p.Val3524Leu)
c.6322G>C (p.Val2108Leu)
c.9550G>C (p.Val3184Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854079G>TCA371785222VPS13Bc.10765G>T (p.Val3589Leu)
n.10835G>T
c.*6447G>T (n.*6447G>T)
c.10690G>T (p.Val3564Leu)
c.10762G>T (p.Val3588Leu)
c.10687G>T (p.Val3563Leu)
c.10387G>T (p.Val3463Leu)
c.7651G>T (p.Val2551Leu)
c.6544G>T (p.Val2182Leu)
c.10570G>T (p.Val3524Leu)
c.6322G>T (p.Val2108Leu)
c.9550G>T (p.Val3184Leu)
8g.99854080T>ACA371785232VPS13Bc.10766T>A (p.Val3589Glu)
n.10836T>A
c.*6448T>A (n.*6448T>A)
c.10691T>A (p.Val3564Glu)
c.10763T>A (p.Val3588Glu)
c.10688T>A (p.Val3563Glu)
c.10388T>A (p.Val3463Glu)
c.7652T>A (p.Val2551Glu)
c.6545T>A (p.Val2182Glu)
c.10571T>A (p.Val3524Glu)
c.6323T>A (p.Val2108Glu)
c.9551T>A (p.Val3184Glu)
8g.99854080T>CCA371785239VPS13Bc.10766T>C (p.Val3589Ala)
n.10836T>C
c.*6448T>C (n.*6448T>C)
c.10691T>C (p.Val3564Ala)
c.10763T>C (p.Val3588Ala)
c.10688T>C (p.Val3563Ala)
c.10388T>C (p.Val3463Ala)
c.7652T>C (p.Val2551Ala)
c.6545T>C (p.Val2182Ala)
c.10571T>C (p.Val3524Ala)
c.6323T>C (p.Val2108Ala)
c.9551T>C (p.Val3184Ala)
8g.99854080T>GCA371785225VPS13Bc.10766T>G (p.Val3589Gly)
n.10836T>G
c.*6448T>G (n.*6448T>G)
c.10691T>G (p.Val3564Gly)
c.10763T>G (p.Val3588Gly)
c.10688T>G (p.Val3563Gly)
c.10388T>G (p.Val3463Gly)
c.7652T>G (p.Val2551Gly)
c.6545T>G (p.Val2182Gly)
c.10571T>G (p.Val3524Gly)
c.6323T>G (p.Val2108Gly)
c.9551T>G (p.Val3184Gly)
8g.99854081G>ACA462458313VPS13Bc.10767G>A (p.Val3589=)
n.10837G>A
c.*6449G>A (n.*6449G>A)
c.10692G>A (p.Val3564=)
c.10764G>A (p.Val3588=)
c.10689G>A (p.Val3563=)
c.10389G>A (p.Val3463=)
c.7653G>A (p.Val2551=)
c.6546G>A (p.Val2182=)
c.10572G>A (p.Val3524=)
c.6324G>A (p.Val2108=)
c.9552G>A (p.Val3184=)
 dbSNP gnomAD v3 gnomAD v4
8g.99854081G>CCA462458314VPS13Bc.10767G>C (p.Val3589=)
n.10837G>C
c.*6449G>C (n.*6449G>C)
c.10692G>C (p.Val3564=)
c.10764G>C (p.Val3588=)
c.10689G>C (p.Val3563=)
c.10389G>C (p.Val3463=)
c.7653G>C (p.Val2551=)
c.6546G>C (p.Val2182=)
c.10572G>C (p.Val3524=)
c.6324G>C (p.Val2108=)
c.9552G>C (p.Val3184=)
8g.99854081G>TCA462458312VPS13Bc.10767G>T (p.Val3589=)
n.10837G>T
c.*6449G>T (n.*6449G>T)
c.10692G>T (p.Val3564=)
c.10764G>T (p.Val3588=)
c.10689G>T (p.Val3563=)
c.10389G>T (p.Val3463=)
c.7653G>T (p.Val2551=)
c.6546G>T (p.Val2182=)
c.10572G>T (p.Val3524=)
c.6324G>T (p.Val2108=)
c.9552G>T (p.Val3184=)
8g.99854082A>CCA371785242VPS13Bc.10768A>C (p.Ile3590Leu)
n.10838A>C
c.*6450A>C (n.*6450A>C)
c.10693A>C (p.Ile3565Leu)
c.10765A>C (p.Ile3589Leu)
c.10690A>C (p.Ile3564Leu)
c.10390A>C (p.Ile3464Leu)
c.7654A>C (p.Ile2552Leu)
c.6547A>C (p.Ile2183Leu)
c.10573A>C (p.Ile3525Leu)
c.6325A>C (p.Ile2109Leu)
c.9553A>C (p.Ile3185Leu)
8g.99854082A>GCA371785246VPS13Bc.10768A>G (p.Ile3590Val)
n.10838A>G
c.*6450A>G (n.*6450A>G)
c.10693A>G (p.Ile3565Val)
c.10765A>G (p.Ile3589Val)
c.10690A>G (p.Ile3564Val)
c.10390A>G (p.Ile3464Val)
c.7654A>G (p.Ile2552Val)
c.6547A>G (p.Ile2183Val)
c.10573A>G (p.Ile3525Val)
c.6325A>G (p.Ile2109Val)
c.9553A>G (p.Ile3185Val)
8g.99854082A>TCA371785244VPS13Bc.10768A>T (p.Ile3590Phe)
n.10838A>T
c.*6450A>T (n.*6450A>T)
c.10693A>T (p.Ile3565Phe)
c.10765A>T (p.Ile3589Phe)
c.10690A>T (p.Ile3564Phe)
c.10390A>T (p.Ile3464Phe)
c.7654A>T (p.Ile2552Phe)
c.6547A>T (p.Ile2183Phe)
c.10573A>T (p.Ile3525Phe)
c.6325A>T (p.Ile2109Phe)
c.9553A>T (p.Ile3185Phe)
8g.99854083T>ACA371785252VPS13Bc.10769T>A (p.Ile3590Asn)
n.10839T>A
c.*6451T>A (n.*6451T>A)
c.10694T>A (p.Ile3565Asn)
c.10766T>A (p.Ile3589Asn)
c.10691T>A (p.Ile3564Asn)
c.10391T>A (p.Ile3464Asn)
c.7655T>A (p.Ile2552Asn)
c.6548T>A (p.Ile2183Asn)
c.10574T>A (p.Ile3525Asn)
c.6326T>A (p.Ile2109Asn)
c.9554T>A (p.Ile3185Asn)
8g.99854083T>CCA4825001VPS13Bc.10769T>C (p.Ile3590Thr)
n.10839T>C
c.*6451T>C (n.*6451T>C)
c.10694T>C (p.Ile3565Thr)
c.10766T>C (p.Ile3589Thr)
c.10691T>C (p.Ile3564Thr)
c.10391T>C (p.Ile3464Thr)
c.7655T>C (p.Ile2552Thr)
c.6548T>C (p.Ile2183Thr)
c.10574T>C (p.Ile3525Thr)
c.6326T>C (p.Ile2109Thr)
c.9554T>C (p.Ile3185Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854083T>GCA371785254VPS13Bc.10769T>G (p.Ile3590Ser)
n.10839T>G
c.*6451T>G (n.*6451T>G)
c.10694T>G (p.Ile3565Ser)
c.10766T>G (p.Ile3589Ser)
c.10691T>G (p.Ile3564Ser)
c.10391T>G (p.Ile3464Ser)
c.7655T>G (p.Ile2552Ser)
c.6548T>G (p.Ile2183Ser)
c.10574T>G (p.Ile3525Ser)
c.6326T>G (p.Ile2109Ser)
c.9554T>G (p.Ile3185Ser)
8g.99854084C>ACA462458315VPS13Bc.10770C>A (p.Ile3590=)
n.10840C>A
c.*6452C>A (n.*6452C>A)
c.10695C>A (p.Ile3565=)
c.10767C>A (p.Ile3589=)
c.10692C>A (p.Ile3564=)
c.10392C>A (p.Ile3464=)
c.7656C>A (p.Ile2552=)
c.6549C>A (p.Ile2183=)
c.10575C>A (p.Ile3525=)
c.6327C>A (p.Ile2109=)
c.9555C>A (p.Ile3185=)
 gnomAD v4
8g.99854084C>GCA371785256VPS13Bc.10770C>G (p.Ile3590Met)
n.10840C>G
c.*6452C>G (n.*6452C>G)
c.10695C>G (p.Ile3565Met)
c.10767C>G (p.Ile3589Met)
c.10692C>G (p.Ile3564Met)
c.10392C>G (p.Ile3464Met)
c.7656C>G (p.Ile2552Met)
c.6549C>G (p.Ile2183Met)
c.10575C>G (p.Ile3525Met)
c.6327C>G (p.Ile2109Met)
c.9555C>G (p.Ile3185Met)
8g.99854084C>TCA462458316VPS13Bc.10770C>T (p.Ile3590=)
n.10840C>T
c.*6452C>T (n.*6452C>T)
c.10695C>T (p.Ile3565=)
c.10767C>T (p.Ile3589=)
c.10692C>T (p.Ile3564=)
c.10392C>T (p.Ile3464=)
c.7656C>T (p.Ile2552=)
c.6549C>T (p.Ile2183=)
c.10575C>T (p.Ile3525=)
c.6327C>T (p.Ile2109=)
c.9555C>T (p.Ile3185=)
 gnomAD v4
8g.99854085dupCA2497231566VPS13Bc.10771dup (p.Gln3591ProfsTer30)
n.10841dup
c.*6453dup (n.*6453dup)
c.10696dup (p.Gln3566ProfsTer30)
c.10768dup (p.Gln3590ProfsTer30)
c.10693dup (p.Gln3565ProfsTer30)
c.10393dup (p.Gln3465ProfsTer30)
c.7657dup (p.Gln2553ProfsTer30)
c.6550dup (p.Gln2184ProfsTer30)
c.10576dup (p.Gln3526ProfsTer30)
c.6328dup (p.Gln2110ProfsTer30)
c.9556dup (p.Gln3186ProfsTer30)
 dbSNP
8g.99854085C>ACA371785262VPS13Bc.10771C>A (p.Gln3591Lys)
n.10841C>A
c.*6453C>A (n.*6453C>A)
c.10696C>A (p.Gln3566Lys)
c.10768C>A (p.Gln3590Lys)
c.10693C>A (p.Gln3565Lys)
c.10393C>A (p.Gln3465Lys)
c.7657C>A (p.Gln2553Lys)
c.6550C>A (p.Gln2184Lys)
c.10576C>A (p.Gln3526Lys)
c.6328C>A (p.Gln2110Lys)
c.9556C>A (p.Gln3186Lys)
8g.99854085C>GCA371785266VPS13Bc.10771C>G (p.Gln3591Glu)
n.10841C>G
c.*6453C>G (n.*6453C>G)
c.10696C>G (p.Gln3566Glu)
c.10768C>G (p.Gln3590Glu)
c.10693C>G (p.Gln3565Glu)
c.10393C>G (p.Gln3465Glu)
c.7657C>G (p.Gln2553Glu)
c.6550C>G (p.Gln2184Glu)
c.10576C>G (p.Gln3526Glu)
c.6328C>G (p.Gln2110Glu)
c.9556C>G (p.Gln3186Glu)
8g.99854085C>TCA371785272VPS13Bc.10771C>T (p.Gln3591Ter)
n.10841C>T
c.*6453C>T (n.*6453C>T)
c.10696C>T (p.Gln3566Ter)
c.10768C>T (p.Gln3590Ter)
c.10693C>T (p.Gln3565Ter)
c.10393C>T (p.Gln3465Ter)
c.7657C>T (p.Gln2553Ter)
c.6550C>T (p.Gln2184Ter)
c.10576C>T (p.Gln3526Ter)
c.6328C>T (p.Gln2110Ter)
c.9556C>T (p.Gln3186Ter)
 ClinVar dbSNP
8g.99854086A>CCA371785283VPS13Bc.10772A>C (p.Gln3591Pro)
n.10842A>C
c.*6454A>C (n.*6454A>C)
c.10697A>C (p.Gln3566Pro)
c.10769A>C (p.Gln3590Pro)
c.10694A>C (p.Gln3565Pro)
c.10394A>C (p.Gln3465Pro)
c.7658A>C (p.Gln2553Pro)
c.6551A>C (p.Gln2184Pro)
c.10577A>C (p.Gln3526Pro)
c.6329A>C (p.Gln2110Pro)
c.9557A>C (p.Gln3186Pro)
8g.99854086A>GCA371785285VPS13Bc.10772A>G (p.Gln3591Arg)
n.10842A>G
c.*6454A>G (n.*6454A>G)
c.10697A>G (p.Gln3566Arg)
c.10769A>G (p.Gln3590Arg)
c.10694A>G (p.Gln3565Arg)
c.10394A>G (p.Gln3465Arg)
c.7658A>G (p.Gln2553Arg)
c.6551A>G (p.Gln2184Arg)
c.10577A>G (p.Gln3526Arg)
c.6329A>G (p.Gln2110Arg)
c.9557A>G (p.Gln3186Arg)
8g.99854086A>TCA371785286VPS13Bc.10772A>T (p.Gln3591Leu)
n.10842A>T
c.*6454A>T (n.*6454A>T)
c.10697A>T (p.Gln3566Leu)
c.10769A>T (p.Gln3590Leu)
c.10694A>T (p.Gln3565Leu)
c.10394A>T (p.Gln3465Leu)
c.7658A>T (p.Gln2553Leu)
c.6551A>T (p.Gln2184Leu)
c.10577A>T (p.Gln3526Leu)
c.6329A>T (p.Gln2110Leu)
c.9557A>T (p.Gln3186Leu)
8g.99854087G>ACA462458317VPS13Bc.10773G>A (p.Gln3591=)
n.10843G>A
c.*6455G>A (n.*6455G>A)
c.10698G>A (p.Gln3566=)
c.10770G>A (p.Gln3590=)
c.10695G>A (p.Gln3565=)
c.10395G>A (p.Gln3465=)
c.7659G>A (p.Gln2553=)
c.6552G>A (p.Gln2184=)
c.10578G>A (p.Gln3526=)
c.6330G>A (p.Gln2110=)
c.9558G>A (p.Gln3186=)
 gnomAD v4
8g.99854087G>CCA371785289VPS13Bc.10773G>C (p.Gln3591His)
n.10843G>C
c.*6455G>C (n.*6455G>C)
c.10698G>C (p.Gln3566His)
c.10770G>C (p.Gln3590His)
c.10695G>C (p.Gln3565His)
c.10395G>C (p.Gln3465His)
c.7659G>C (p.Gln2553His)
c.6552G>C (p.Gln2184His)
c.10578G>C (p.Gln3526His)
c.6330G>C (p.Gln2110His)
c.9558G>C (p.Gln3186His)
8g.99854087G>TCA371785295VPS13Bc.10773G>T (p.Gln3591His)
n.10843G>T
c.*6455G>T (n.*6455G>T)
c.10698G>T (p.Gln3566His)
c.10770G>T (p.Gln3590His)
c.10695G>T (p.Gln3565His)
c.10395G>T (p.Gln3465His)
c.7659G>T (p.Gln2553His)
c.6552G>T (p.Gln2184His)
c.10578G>T (p.Gln3526His)
c.6330G>T (p.Gln2110His)
c.9558G>T (p.Gln3186His)
8g.99854088C>ACA4825002VPS13Bc.10774C>A (p.Pro3592Thr)
n.10844C>A
c.*6456C>A (n.*6456C>A)
c.10699C>A (p.Pro3567Thr)
c.10771C>A (p.Pro3591Thr)
c.10696C>A (p.Pro3566Thr)
c.10396C>A (p.Pro3466Thr)
c.7660C>A (p.Pro2554Thr)
c.6553C>A (p.Pro2185Thr)
c.10579C>A (p.Pro3527Thr)
c.6331C>A (p.Pro2111Thr)
c.9559C>A (p.Pro3187Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854088C>GCA371785308VPS13Bc.10774C>G (p.Pro3592Ala)
n.10844C>G
c.*6456C>G (n.*6456C>G)
c.10699C>G (p.Pro3567Ala)
c.10771C>G (p.Pro3591Ala)
c.10696C>G (p.Pro3566Ala)
c.10396C>G (p.Pro3466Ala)
c.7660C>G (p.Pro2554Ala)
c.6553C>G (p.Pro2185Ala)
c.10579C>G (p.Pro3527Ala)
c.6331C>G (p.Pro2111Ala)
c.9559C>G (p.Pro3187Ala)
8g.99854088C>TCA371785300VPS13Bc.10774C>T (p.Pro3592Ser)
n.10844C>T
c.*6456C>T (n.*6456C>T)
c.10699C>T (p.Pro3567Ser)
c.10771C>T (p.Pro3591Ser)
c.10696C>T (p.Pro3566Ser)
c.10396C>T (p.Pro3466Ser)
c.7660C>T (p.Pro2554Ser)
c.6553C>T (p.Pro2185Ser)
c.10579C>T (p.Pro3527Ser)
c.6331C>T (p.Pro2111Ser)
c.9559C>T (p.Pro3187Ser)
8g.99854089delCA1117127448VPS13Bc.10775del (p.Pro3592GlnfsTer2)
n.10845del
c.*6457del (n.*6457del)
c.10700del (p.Pro3567GlnfsTer2)
c.10772del (p.Pro3591GlnfsTer2)
c.10697del (p.Pro3566GlnfsTer2)
c.10397del (p.Pro3466GlnfsTer2)
c.7661del (p.Pro2554GlnfsTer2)
c.6554del (p.Pro2185GlnfsTer2)
c.10580del (p.Pro3527GlnfsTer2)
c.6332del (p.Pro2111GlnfsTer2)
c.9560del (p.Pro3187GlnfsTer2)
 dbSNP gnomAD v3 gnomAD v4
8g.99854089C>ACA371785320VPS13Bc.10775C>A (p.Pro3592Gln)
n.10845C>A
c.*6457C>A (n.*6457C>A)
c.10700C>A (p.Pro3567Gln)
c.10772C>A (p.Pro3591Gln)
c.10697C>A (p.Pro3566Gln)
c.10397C>A (p.Pro3466Gln)
c.7661C>A (p.Pro2554Gln)
c.6554C>A (p.Pro2185Gln)
c.10580C>A (p.Pro3527Gln)
c.6332C>A (p.Pro2111Gln)
c.9560C>A (p.Pro3187Gln)
8g.99854089C>GCA371785322VPS13Bc.10775C>G (p.Pro3592Arg)
n.10845C>G
c.*6457C>G (n.*6457C>G)
c.10700C>G (p.Pro3567Arg)
c.10772C>G (p.Pro3591Arg)
c.10697C>G (p.Pro3566Arg)
c.10397C>G (p.Pro3466Arg)
c.7661C>G (p.Pro2554Arg)
c.6554C>G (p.Pro2185Arg)
c.10580C>G (p.Pro3527Arg)
c.6332C>G (p.Pro2111Arg)
c.9560C>G (p.Pro3187Arg)
8g.99854089C>TCA371785323VPS13Bc.10775C>T (p.Pro3592Leu)
n.10845C>T
c.*6457C>T (n.*6457C>T)
c.10700C>T (p.Pro3567Leu)
c.10772C>T (p.Pro3591Leu)
c.10697C>T (p.Pro3566Leu)
c.10397C>T (p.Pro3466Leu)
c.7661C>T (p.Pro2554Leu)
c.6554C>T (p.Pro2185Leu)
c.10580C>T (p.Pro3527Leu)
c.6332C>T (p.Pro2111Leu)
c.9560C>T (p.Pro3187Leu)
8g.99854090A>CCA462458318VPS13Bc.10776A>C (p.Pro3592=)
n.10846A>C
c.*6458A>C (n.*6458A>C)
c.10701A>C (p.Pro3567=)
c.10773A>C (p.Pro3591=)
c.10698A>C (p.Pro3566=)
c.10398A>C (p.Pro3466=)
c.7662A>C (p.Pro2554=)
c.6555A>C (p.Pro2185=)
c.10581A>C (p.Pro3527=)
c.6333A>C (p.Pro2111=)
c.9561A>C (p.Pro3187=)
8g.99854090A>GCA462458319VPS13Bc.10776A>G (p.Pro3592=)
n.10846A>G
c.*6458A>G (n.*6458A>G)
c.10701A>G (p.Pro3567=)
c.10773A>G (p.Pro3591=)
c.10698A>G (p.Pro3566=)
c.10398A>G (p.Pro3466=)
c.7662A>G (p.Pro2554=)
c.6555A>G (p.Pro2185=)
c.10581A>G (p.Pro3527=)
c.6333A>G (p.Pro2111=)
c.9561A>G (p.Pro3187=)
 gnomAD v4
8g.99854090A>TCA462458320VPS13Bc.10776A>T (p.Pro3592=)
n.10846A>T
c.*6458A>T (n.*6458A>T)
c.10701A>T (p.Pro3567=)
c.10773A>T (p.Pro3591=)
c.10698A>T (p.Pro3566=)
c.10398A>T (p.Pro3466=)
c.7662A>T (p.Pro2554=)
c.6555A>T (p.Pro2185=)
c.10581A>T (p.Pro3527=)
c.6333A>T (p.Pro2111=)
c.9561A>T (p.Pro3187=)
8g.99854091G>ACA371785326VPS13Bc.10777G>A (p.Val3593Ile)
n.10847G>A
c.*6459G>A (n.*6459G>A)
c.10702G>A (p.Val3568Ile)
c.10774G>A (p.Val3592Ile)
c.10699G>A (p.Val3567Ile)
c.10399G>A (p.Val3467Ile)
c.7663G>A (p.Val2555Ile)
c.6556G>A (p.Val2186Ile)
c.10582G>A (p.Val3528Ile)
c.6334G>A (p.Val2112Ile)
c.9562G>A (p.Val3188Ile)
 gnomAD v4
8g.99854091G>CCA371785327VPS13Bc.10777G>C (p.Val3593Leu)
n.10847G>C
c.*6459G>C (n.*6459G>C)
c.10702G>C (p.Val3568Leu)
c.10774G>C (p.Val3592Leu)
c.10699G>C (p.Val3567Leu)
c.10399G>C (p.Val3467Leu)
c.7663G>C (p.Val2555Leu)
c.6556G>C (p.Val2186Leu)
c.10582G>C (p.Val3528Leu)
c.6334G>C (p.Val2112Leu)
c.9562G>C (p.Val3188Leu)
8g.99854091G>TCA371785331VPS13Bc.10777G>T (p.Val3593Leu)
n.10847G>T
c.*6459G>T (n.*6459G>T)
c.10702G>T (p.Val3568Leu)
c.10774G>T (p.Val3592Leu)
c.10699G>T (p.Val3567Leu)
c.10399G>T (p.Val3467Leu)
c.7663G>T (p.Val2555Leu)
c.6556G>T (p.Val2186Leu)
c.10582G>T (p.Val3528Leu)
c.6334G>T (p.Val2112Leu)
c.9562G>T (p.Val3188Leu)
8g.99854092T>ACA371785349VPS13Bc.10778T>A (p.Val3593Glu)
n.10848T>A
c.*6460T>A (n.*6460T>A)
c.10703T>A (p.Val3568Glu)
c.10775T>A (p.Val3592Glu)
c.10700T>A (p.Val3567Glu)
c.10400T>A (p.Val3467Glu)
c.7664T>A (p.Val2555Glu)
c.6557T>A (p.Val2186Glu)
c.10583T>A (p.Val3528Glu)
c.6335T>A (p.Val2112Glu)
c.9563T>A (p.Val3188Glu)
8g.99854092T>CCA4825003VPS13Bc.10778T>C (p.Val3593Ala)
n.10848T>C
c.*6460T>C (n.*6460T>C)
c.10703T>C (p.Val3568Ala)
c.10775T>C (p.Val3592Ala)
c.10700T>C (p.Val3567Ala)
c.10400T>C (p.Val3467Ala)
c.7664T>C (p.Val2555Ala)
c.6557T>C (p.Val2186Ala)
c.10583T>C (p.Val3528Ala)
c.6335T>C (p.Val2112Ala)
c.9563T>C (p.Val3188Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854092T>GCA371785354VPS13Bc.10778T>G (p.Val3593Gly)
n.10848T>G
c.*6460T>G (n.*6460T>G)
c.10703T>G (p.Val3568Gly)
c.10775T>G (p.Val3592Gly)
c.10700T>G (p.Val3567Gly)
c.10400T>G (p.Val3467Gly)
c.7664T>G (p.Val2555Gly)
c.6557T>G (p.Val2186Gly)
c.10583T>G (p.Val3528Gly)
c.6335T>G (p.Val2112Gly)
c.9563T>G (p.Val3188Gly)
8g.99854093A>CCA462458321VPS13Bc.10779A>C (p.Val3593=)
n.10849A>C
c.*6461A>C (n.*6461A>C)
c.10704A>C (p.Val3568=)
c.10776A>C (p.Val3592=)
c.10701A>C (p.Val3567=)
c.10401A>C (p.Val3467=)
c.7665A>C (p.Val2555=)
c.6558A>C (p.Val2186=)
c.10584A>C (p.Val3528=)
c.6336A>C (p.Val2112=)
c.9564A>C (p.Val3188=)
8g.99854093A>GCA462458322VPS13Bc.10779A>G (p.Val3593=)
n.10849A>G
c.*6461A>G (n.*6461A>G)
c.10704A>G (p.Val3568=)
c.10776A>G (p.Val3592=)
c.10701A>G (p.Val3567=)
c.10401A>G (p.Val3467=)
c.7665A>G (p.Val2555=)
c.6558A>G (p.Val2186=)
c.10584A>G (p.Val3528=)
c.6336A>G (p.Val2112=)
c.9564A>G (p.Val3188=)
8g.99854093A>TCA462458323VPS13Bc.10779A>T (p.Val3593=)
n.10849A>T
c.*6461A>T (n.*6461A>T)
c.10704A>T (p.Val3568=)
c.10776A>T (p.Val3592=)
c.10701A>T (p.Val3567=)
c.10401A>T (p.Val3467=)
c.7665A>T (p.Val2555=)
c.6558A>T (p.Val2186=)
c.10584A>T (p.Val3528=)
c.6336A>T (p.Val2112=)
c.9564A>T (p.Val3188=)
8g.99854094A>CCA371785363VPS13Bc.10780A>C (p.Asn3594His)
n.10850A>C
c.*6462A>C (n.*6462A>C)
c.10705A>C (p.Asn3569His)
c.10777A>C (p.Asn3593His)
c.10702A>C (p.Asn3568His)
c.10402A>C (p.Asn3468His)
c.7666A>C (p.Asn2556His)
c.6559A>C (p.Asn2187His)
c.10585A>C (p.Asn3529His)
c.6337A>C (p.Asn2113His)
c.9565A>C (p.Asn3189His)
8g.99854094A>GCA371785366VPS13Bc.10780A>G (p.Asn3594Asp)
n.10850A>G
c.*6462A>G (n.*6462A>G)
c.10705A>G (p.Asn3569Asp)
c.10777A>G (p.Asn3593Asp)
c.10702A>G (p.Asn3568Asp)
c.10402A>G (p.Asn3468Asp)
c.7666A>G (p.Asn2556Asp)
c.6559A>G (p.Asn2187Asp)
c.10585A>G (p.Asn3529Asp)
c.6337A>G (p.Asn2113Asp)
c.9565A>G (p.Asn3189Asp)
 ClinVar dbSNP
8g.99854094A>TCA371785358VPS13Bc.10780A>T (p.Asn3594Tyr)
n.10850A>T
c.*6462A>T (n.*6462A>T)
c.10705A>T (p.Asn3569Tyr)
c.10777A>T (p.Asn3593Tyr)
c.10702A>T (p.Asn3568Tyr)
c.10402A>T (p.Asn3468Tyr)
c.7666A>T (p.Asn2556Tyr)
c.6559A>T (p.Asn2187Tyr)
c.10585A>T (p.Asn3529Tyr)
c.6337A>T (p.Asn2113Tyr)
c.9565A>T (p.Asn3189Tyr)
8g.99854095A>CCA371785387VPS13Bc.10781A>C (p.Asn3594Thr)
n.10851A>C
c.*6463A>C (n.*6463A>C)
c.10706A>C (p.Asn3569Thr)
c.10778A>C (p.Asn3593Thr)
c.10703A>C (p.Asn3568Thr)
c.10403A>C (p.Asn3468Thr)
c.7667A>C (p.Asn2556Thr)
c.6560A>C (p.Asn2187Thr)
c.10586A>C (p.Asn3529Thr)
c.6338A>C (p.Asn2113Thr)
c.9566A>C (p.Asn3189Thr)
8g.99854095A>GCA371785398VPS13Bc.10781A>G (p.Asn3594Ser)
n.10851A>G
c.*6463A>G (n.*6463A>G)
c.10706A>G (p.Asn3569Ser)
c.10778A>G (p.Asn3593Ser)
c.10703A>G (p.Asn3568Ser)
c.10403A>G (p.Asn3468Ser)
c.7667A>G (p.Asn2556Ser)
c.6560A>G (p.Asn2187Ser)
c.10586A>G (p.Asn3529Ser)
c.6338A>G (p.Asn2113Ser)
c.9566A>G (p.Asn3189Ser)
8g.99854095A>TCA371785399VPS13Bc.10781A>T (p.Asn3594Ile)
n.10851A>T
c.*6463A>T (n.*6463A>T)
c.10706A>T (p.Asn3569Ile)
c.10778A>T (p.Asn3593Ile)
c.10703A>T (p.Asn3568Ile)
c.10403A>T (p.Asn3468Ile)
c.7667A>T (p.Asn2556Ile)
c.6560A>T (p.Asn2187Ile)
c.10586A>T (p.Asn3529Ile)
c.6338A>T (p.Asn2113Ile)
c.9566A>T (p.Asn3189Ile)
8g.99854096T>ACA371785400VPS13Bc.10782T>A (p.Asn3594Lys)
n.10852T>A
c.*6464T>A (n.*6464T>A)
c.10707T>A (p.Asn3569Lys)
c.10779T>A (p.Asn3593Lys)
c.10704T>A (p.Asn3568Lys)
c.10404T>A (p.Asn3468Lys)
c.7668T>A (p.Asn2556Lys)
c.6561T>A (p.Asn2187Lys)
c.10587T>A (p.Asn3529Lys)
c.6339T>A (p.Asn2113Lys)
c.9567T>A (p.Asn3189Lys)
8g.99854096T>CCA462458324VPS13Bc.10782T>C (p.Asn3594=)
n.10852T>C
c.*6464T>C (n.*6464T>C)
c.10707T>C (p.Asn3569=)
c.10779T>C (p.Asn3593=)
c.10704T>C (p.Asn3568=)
c.10404T>C (p.Asn3468=)
c.7668T>C (p.Asn2556=)
c.6561T>C (p.Asn2187=)
c.10587T>C (p.Asn3529=)
c.6339T>C (p.Asn2113=)
c.9567T>C (p.Asn3189=)
 ClinVar
8g.99854096T>GCA371785401VPS13Bc.10782T>G (p.Asn3594Lys)
n.10852T>G
c.*6464T>G (n.*6464T>G)
c.10707T>G (p.Asn3569Lys)
c.10779T>G (p.Asn3593Lys)
c.10704T>G (p.Asn3568Lys)
c.10404T>G (p.Asn3468Lys)
c.7668T>G (p.Asn2556Lys)
c.6561T>G (p.Asn2187Lys)
c.10587T>G (p.Asn3529Lys)
c.6339T>G (p.Asn2113Lys)
c.9567T>G (p.Asn3189Lys)
8g.99854097T>ACA371785406VPS13Bc.10783T>A (p.Leu3595Met)
n.10853T>A
c.*6465T>A (n.*6465T>A)
c.10708T>A (p.Leu3570Met)
c.10780T>A (p.Leu3594Met)
c.10705T>A (p.Leu3569Met)
c.10405T>A (p.Leu3469Met)
c.7669T>A (p.Leu2557Met)
c.6562T>A (p.Leu2188Met)
c.10588T>A (p.Leu3530Met)
c.6340T>A (p.Leu2114Met)
c.9568T>A (p.Leu3190Met)
8g.99854097T>CCA462458325VPS13Bc.10783T>C (p.Leu3595=)
n.10853T>C
c.*6465T>C (n.*6465T>C)
c.10708T>C (p.Leu3570=)
c.10780T>C (p.Leu3594=)
c.10705T>C (p.Leu3569=)
c.10405T>C (p.Leu3469=)
c.7669T>C (p.Leu2557=)
c.6562T>C (p.Leu2188=)
c.10588T>C (p.Leu3530=)
c.6340T>C (p.Leu2114=)
c.9568T>C (p.Leu3190=)
8g.99854097T>GCA371785412VPS13Bc.10783T>G (p.Leu3595Val)
n.10853T>G
c.*6465T>G (n.*6465T>G)
c.10708T>G (p.Leu3570Val)
c.10780T>G (p.Leu3594Val)
c.10705T>G (p.Leu3569Val)
c.10405T>G (p.Leu3469Val)
c.7669T>G (p.Leu2557Val)
c.6562T>G (p.Leu2188Val)
c.10588T>G (p.Leu3530Val)
c.6340T>G (p.Leu2114Val)
c.9568T>G (p.Leu3190Val)
8g.99854098T>ACA371785415VPS13Bc.10784T>A (p.Leu3595Ter)
n.10854T>A
c.*6466T>A (n.*6466T>A)
c.10709T>A (p.Leu3570Ter)
c.10781T>A (p.Leu3594Ter)
c.10706T>A (p.Leu3569Ter)
c.10406T>A (p.Leu3469Ter)
c.7670T>A (p.Leu2557Ter)
c.6563T>A (p.Leu2188Ter)
c.10589T>A (p.Leu3530Ter)
c.6341T>A (p.Leu2114Ter)
c.9569T>A (p.Leu3190Ter)
8g.99854098T>CCA371785423VPS13Bc.10784T>C (p.Leu3595Ser)
n.10854T>C
c.*6466T>C (n.*6466T>C)
c.10709T>C (p.Leu3570Ser)
c.10781T>C (p.Leu3594Ser)
c.10706T>C (p.Leu3569Ser)
c.10406T>C (p.Leu3469Ser)
c.7670T>C (p.Leu2557Ser)
c.6563T>C (p.Leu2188Ser)
c.10589T>C (p.Leu3530Ser)
c.6341T>C (p.Leu2114Ser)
c.9569T>C (p.Leu3190Ser)
8g.99854098T>GCA371785424VPS13Bc.10784T>G (p.Leu3595Trp)
n.10854T>G
c.*6466T>G (n.*6466T>G)
c.10709T>G (p.Leu3570Trp)
c.10781T>G (p.Leu3594Trp)
c.10706T>G (p.Leu3569Trp)
c.10406T>G (p.Leu3469Trp)
c.7670T>G (p.Leu2557Trp)
c.6563T>G (p.Leu2188Trp)
c.10589T>G (p.Leu3530Trp)
c.6341T>G (p.Leu2114Trp)
c.9569T>G (p.Leu3190Trp)
8g.99854099G>ACA462458326VPS13Bc.10785G>A (p.Leu3595=)
n.10855G>A
c.*6467G>A (n.*6467G>A)
c.10710G>A (p.Leu3570=)
c.10782G>A (p.Leu3594=)
c.10707G>A (p.Leu3569=)
c.10407G>A (p.Leu3469=)
c.7671G>A (p.Leu2557=)
c.6564G>A (p.Leu2188=)
c.10590G>A (p.Leu3530=)
c.6342G>A (p.Leu2114=)
c.9570G>A (p.Leu3190=)
8g.99854099G>CCA371785425VPS13Bc.10785G>C (p.Leu3595Phe)
n.10855G>C
c.*6467G>C (n.*6467G>C)
c.10710G>C (p.Leu3570Phe)
c.10782G>C (p.Leu3594Phe)
c.10707G>C (p.Leu3569Phe)
c.10407G>C (p.Leu3469Phe)
c.7671G>C (p.Leu2557Phe)
c.6564G>C (p.Leu2188Phe)
c.10590G>C (p.Leu3530Phe)
c.6342G>C (p.Leu2114Phe)
c.9570G>C (p.Leu3190Phe)
8g.99854099G>TCA4825004VPS13Bc.10785G>T (p.Leu3595Phe)
n.10855G>T
c.*6467G>T (n.*6467G>T)
c.10710G>T (p.Leu3570Phe)
c.10782G>T (p.Leu3594Phe)
c.10707G>T (p.Leu3569Phe)
c.10407G>T (p.Leu3469Phe)
c.7671G>T (p.Leu2557Phe)
c.6564G>T (p.Leu2188Phe)
c.10590G>T (p.Leu3530Phe)
c.6342G>T (p.Leu2114Phe)
c.9570G>T (p.Leu3190Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99854100C>ACA371785434VPS13Bc.10786C>A (p.Leu3596Ile)
n.10856C>A
c.*6468C>A (n.*6468C>A)
c.10711C>A (p.Leu3571Ile)
c.10783C>A (p.Leu3595Ile)
c.10708C>A (p.Leu3570Ile)
c.10408C>A (p.Leu3470Ile)
c.7672C>A (p.Leu2558Ile)
c.6565C>A (p.Leu2189Ile)
c.10591C>A (p.Leu3531Ile)
c.6343C>A (p.Leu2115Ile)
c.9571C>A (p.Leu3191Ile)
8g.99854100C>GCA371785429VPS13Bc.10786C>G (p.Leu3596Val)
n.10856C>G
c.*6468C>G (n.*6468C>G)
c.10711C>G (p.Leu3571Val)
c.10783C>G (p.Leu3595Val)
c.10708C>G (p.Leu3570Val)
c.10408C>G (p.Leu3470Val)
c.7672C>G (p.Leu2558Val)
c.6565C>G (p.Leu2189Val)
c.10591C>G (p.Leu3531Val)
c.6343C>G (p.Leu2115Val)
c.9571C>G (p.Leu3191Val)
8g.99854100C>TCA371785432VPS13Bc.10786C>T (p.Leu3596Phe)
n.10856C>T
c.*6468C>T (n.*6468C>T)
c.10711C>T (p.Leu3571Phe)
c.10783C>T (p.Leu3595Phe)
c.10708C>T (p.Leu3570Phe)
c.10408C>T (p.Leu3470Phe)
c.7672C>T (p.Leu2558Phe)
c.6565C>T (p.Leu2189Phe)
c.10591C>T (p.Leu3531Phe)
c.6343C>T (p.Leu2115Phe)
c.9571C>T (p.Leu3191Phe)
 gnomAD v4
8g.99854101T>ACA371785440VPS13Bc.10787T>A (p.Leu3596His)
n.10857T>A
c.*6469T>A (n.*6469T>A)
c.10712T>A (p.Leu3571His)
c.10784T>A (p.Leu3595His)
c.10709T>A (p.Leu3570His)
c.10409T>A (p.Leu3470His)
c.7673T>A (p.Leu2558His)
c.6566T>A (p.Leu2189His)
c.10592T>A (p.Leu3531His)
c.6344T>A (p.Leu2115His)
c.9572T>A (p.Leu3191His)
8g.99854101T>CCA371785444VPS13Bc.10787T>C (p.Leu3596Pro)
n.10857T>C
c.*6469T>C (n.*6469T>C)
c.10712T>C (p.Leu3571Pro)
c.10784T>C (p.Leu3595Pro)
c.10709T>C (p.Leu3570Pro)
c.10409T>C (p.Leu3470Pro)
c.7673T>C (p.Leu2558Pro)
c.6566T>C (p.Leu2189Pro)
c.10592T>C (p.Leu3531Pro)
c.6344T>C (p.Leu2115Pro)
c.9572T>C (p.Leu3191Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.99854101T>GCA371785447VPS13Bc.10787T>G (p.Leu3596Arg)
n.10857T>G
c.*6469T>G (n.*6469T>G)
c.10712T>G (p.Leu3571Arg)
c.10784T>G (p.Leu3595Arg)
c.10709T>G (p.Leu3570Arg)
c.10409T>G (p.Leu3470Arg)
c.7673T>G (p.Leu2558Arg)
c.6566T>G (p.Leu2189Arg)
c.10592T>G (p.Leu3531Arg)
c.6344T>G (p.Leu2115Arg)
c.9572T>G (p.Leu3191Arg)
8g.99854102C>ACA462458327VPS13Bc.10788C>A (p.Leu3596=)
n.10858C>A
c.*6470C>A (n.*6470C>A)
c.10713C>A (p.Leu3571=)
c.10785C>A (p.Leu3595=)
c.10710C>A (p.Leu3570=)
c.10410C>A (p.Leu3470=)
c.7674C>A (p.Leu2558=)
c.6567C>A (p.Leu2189=)
c.10593C>A (p.Leu3531=)
c.6345C>A (p.Leu2115=)
c.9573C>A (p.Leu3191=)
8g.99854102C>GCA462458328VPS13Bc.10788C>G (p.Leu3596=)
n.10858C>G
c.*6470C>G (n.*6470C>G)
c.10713C>G (p.Leu3571=)
c.10785C>G (p.Leu3595=)
c.10710C>G (p.Leu3570=)
c.10410C>G (p.Leu3470=)
c.7674C>G (p.Leu2558=)
c.6567C>G (p.Leu2189=)
c.10593C>G (p.Leu3531=)
c.6345C>G (p.Leu2115=)
c.9573C>G (p.Leu3191=)
8g.99854102C>TCA4825005VPS13Bc.10788C>T (p.Leu3596=)
n.10858C>T
c.*6470C>T (n.*6470C>T)
c.10713C>T (p.Leu3571=)
c.10785C>T (p.Leu3595=)
c.10710C>T (p.Leu3570=)
c.10410C>T (p.Leu3470=)
c.7674C>T (p.Leu2558=)
c.6567C>T (p.Leu2189=)
c.10593C>T (p.Leu3531=)
c.6345C>T (p.Leu2115=)
c.9573C>T (p.Leu3191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99854103G>ACA4825006VPS13Bc.10789G>A (p.Val3597Ile)
n.10859G>A
c.*6471G>A (n.*6471G>A)
c.10714G>A (p.Val3572Ile)
c.10786G>A (p.Val3596Ile)
c.10711G>A (p.Val3571Ile)
c.10411G>A (p.Val3471Ile)
c.7675G>A (p.Val2559Ile)
c.6568G>A (p.Val2190Ile)
c.10594G>A (p.Val3532Ile)
c.6346G>A (p.Val2116Ile)
c.9574G>A (p.Val3192Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854103G>CCA371785457VPS13Bc.10789G>C (p.Val3597Leu)
n.10859G>C
c.*6471G>C (n.*6471G>C)
c.10714G>C (p.Val3572Leu)
c.10786G>C (p.Val3596Leu)
c.10711G>C (p.Val3571Leu)
c.10411G>C (p.Val3471Leu)
c.7675G>C (p.Val2559Leu)
c.6568G>C (p.Val2190Leu)
c.10594G>C (p.Val3532Leu)
c.6346G>C (p.Val2116Leu)
c.9574G>C (p.Val3192Leu)
8g.99854103G>TCA4825007VPS13Bc.10789G>T (p.Val3597Phe)
n.10859G>T
c.*6471G>T (n.*6471G>T)
c.10714G>T (p.Val3572Phe)
c.10786G>T (p.Val3596Phe)
c.10711G>T (p.Val3571Phe)
c.10411G>T (p.Val3471Phe)
c.7675G>T (p.Val2559Phe)
c.6568G>T (p.Val2190Phe)
c.10594G>T (p.Val3532Phe)
c.6346G>T (p.Val2116Phe)
c.9574G>T (p.Val3192Phe)
 dbSNP ExAC gnomAD v2
8g.99854104T>ACA371785461VPS13Bc.10790T>A (p.Val3597Asp)
n.10860T>A
c.*6472T>A (n.*6472T>A)
c.10715T>A (p.Val3572Asp)
c.10787T>A (p.Val3596Asp)
c.10712T>A (p.Val3571Asp)
c.10412T>A (p.Val3471Asp)
c.7676T>A (p.Val2559Asp)
c.6569T>A (p.Val2190Asp)
c.10595T>A (p.Val3532Asp)
c.6347T>A (p.Val2116Asp)
c.9575T>A (p.Val3192Asp)
8g.99854104T>CCA371785464VPS13Bc.10790T>C (p.Val3597Ala)
n.10860T>C
c.*6472T>C (n.*6472T>C)
c.10715T>C (p.Val3572Ala)
c.10787T>C (p.Val3596Ala)
c.10712T>C (p.Val3571Ala)
c.10412T>C (p.Val3471Ala)
c.7676T>C (p.Val2559Ala)
c.6569T>C (p.Val2190Ala)
c.10595T>C (p.Val3532Ala)
c.6347T>C (p.Val2116Ala)
c.9575T>C (p.Val3192Ala)
8g.99854104T>GCA371785469VPS13Bc.10790T>G (p.Val3597Gly)
n.10860T>G
c.*6472T>G (n.*6472T>G)
c.10715T>G (p.Val3572Gly)
c.10787T>G (p.Val3596Gly)
c.10712T>G (p.Val3571Gly)
c.10412T>G (p.Val3471Gly)
c.7676T>G (p.Val2559Gly)
c.6569T>G (p.Val2190Gly)
c.10595T>G (p.Val3532Gly)
c.6347T>G (p.Val2116Gly)
c.9575T>G (p.Val3192Gly)
8g.99854105C>ACA462458329VPS13Bc.10791C>A (p.Val3597=)
n.10861C>A
c.*6473C>A (n.*6473C>A)
c.10716C>A (p.Val3572=)
c.10788C>A (p.Val3596=)
c.10713C>A (p.Val3571=)
c.10413C>A (p.Val3471=)
c.7677C>A (p.Val2559=)
c.6570C>A (p.Val2190=)
c.10596C>A (p.Val3532=)
c.6348C>A (p.Val2116=)
c.9576C>A (p.Val3192=)
8g.99854105C>GCA462458331VPS13Bc.10791C>G (p.Val3597=)
n.10861C>G
c.*6473C>G (n.*6473C>G)
c.10716C>G (p.Val3572=)
c.10788C>G (p.Val3596=)
c.10713C>G (p.Val3571=)
c.10413C>G (p.Val3471=)
c.7677C>G (p.Val2559=)
c.6570C>G (p.Val2190=)
c.10596C>G (p.Val3532=)
c.6348C>G (p.Val2116=)
c.9576C>G (p.Val3192=)
8g.99854105C>TCA462458330VPS13Bc.10791C>T (p.Val3597=)
n.10861C>T
c.*6473C>T (n.*6473C>T)
c.10716C>T (p.Val3572=)
c.10788C>T (p.Val3596=)
c.10713C>T (p.Val3571=)
c.10413C>T (p.Val3471=)
c.7677C>T (p.Val2559=)
c.6570C>T (p.Val2190=)
c.10596C>T (p.Val3532=)
c.6348C>T (p.Val2116=)
c.9576C>T (p.Val3192=)
 COSMIC COSMIC
8g.99854106A>CCA371785473VPS13Bc.10792A>C (p.Ser3598Arg)
n.10862A>C
c.*6474A>C (n.*6474A>C)
c.10717A>C (p.Ser3573Arg)
c.10789A>C (p.Ser3597Arg)
c.10714A>C (p.Ser3572Arg)
c.10414A>C (p.Ser3472Arg)
c.7678A>C (p.Ser2560Arg)
c.6571A>C (p.Ser2191Arg)
c.10597A>C (p.Ser3533Arg)
c.6349A>C (p.Ser2117Arg)
c.9577A>C (p.Ser3193Arg)
8g.99854106A>GCA371785475VPS13Bc.10792A>G (p.Ser3598Gly)
n.10862A>G
c.*6474A>G (n.*6474A>G)
c.10717A>G (p.Ser3573Gly)
c.10789A>G (p.Ser3597Gly)
c.10714A>G (p.Ser3572Gly)
c.10414A>G (p.Ser3472Gly)
c.7678A>G (p.Ser2560Gly)
c.6571A>G (p.Ser2191Gly)
c.10597A>G (p.Ser3533Gly)
c.6349A>G (p.Ser2117Gly)
c.9577A>G (p.Ser3193Gly)
 gnomAD v4
8g.99854106A>TCA371785477VPS13Bc.10792A>T (p.Ser3598Cys)
n.10862A>T
c.*6474A>T (n.*6474A>T)
c.10717A>T (p.Ser3573Cys)
c.10789A>T (p.Ser3597Cys)
c.10714A>T (p.Ser3572Cys)
c.10414A>T (p.Ser3472Cys)
c.7678A>T (p.Ser2560Cys)
c.6571A>T (p.Ser2191Cys)
c.10597A>T (p.Ser3533Cys)
c.6349A>T (p.Ser2117Cys)
c.9577A>T (p.Ser3193Cys)
8g.99854107G>ACA371785485VPS13Bc.10793G>A (p.Ser3598Asn)
n.10863G>A
c.*6475G>A (n.*6475G>A)
c.10718G>A (p.Ser3573Asn)
c.10790G>A (p.Ser3597Asn)
c.10715G>A (p.Ser3572Asn)
c.10415G>A (p.Ser3472Asn)
c.7679G>A (p.Ser2560Asn)
c.6572G>A (p.Ser2191Asn)
c.10598G>A (p.Ser3533Asn)
c.6350G>A (p.Ser2117Asn)
c.9578G>A (p.Ser3193Asn)
8g.99854107G>CCA371785487VPS13Bc.10793G>C (p.Ser3598Thr)
n.10863G>C
c.*6475G>C (n.*6475G>C)
c.10718G>C (p.Ser3573Thr)
c.10790G>C (p.Ser3597Thr)
c.10715G>C (p.Ser3572Thr)
c.10415G>C (p.Ser3472Thr)
c.7679G>C (p.Ser2560Thr)
c.6572G>C (p.Ser2191Thr)
c.10598G>C (p.Ser3533Thr)
c.6350G>C (p.Ser2117Thr)
c.9578G>C (p.Ser3193Thr)
8g.99854107G>TCA371785483VPS13Bc.10793G>T (p.Ser3598Ile)
n.10863G>T
c.*6475G>T (n.*6475G>T)
c.10718G>T (p.Ser3573Ile)
c.10790G>T (p.Ser3597Ile)
c.10715G>T (p.Ser3572Ile)
c.10415G>T (p.Ser3472Ile)
c.7679G>T (p.Ser2560Ile)
c.6572G>T (p.Ser2191Ile)
c.10598G>T (p.Ser3533Ile)
c.6350G>T (p.Ser2117Ile)
c.9578G>T (p.Ser3193Ile)
8g.99854108C>ACA371785489VPS13Bc.10794C>A (p.Ser3598Arg)
n.10864C>A
c.*6476C>A (n.*6476C>A)
c.10719C>A (p.Ser3573Arg)
c.10791C>A (p.Ser3597Arg)
c.10716C>A (p.Ser3572Arg)
c.10416C>A (p.Ser3472Arg)
c.7680C>A (p.Ser2560Arg)
c.6573C>A (p.Ser2191Arg)
c.10599C>A (p.Ser3533Arg)
c.6351C>A (p.Ser2117Arg)
c.9579C>A (p.Ser3193Arg)
8g.99854108C>GCA371785488VPS13Bc.10794C>G (p.Ser3598Arg)
n.10864C>G
c.*6476C>G (n.*6476C>G)
c.10719C>G (p.Ser3573Arg)
c.10791C>G (p.Ser3597Arg)
c.10716C>G (p.Ser3572Arg)
c.10416C>G (p.Ser3472Arg)
c.7680C>G (p.Ser2560Arg)
c.6573C>G (p.Ser2191Arg)
c.10599C>G (p.Ser3533Arg)
c.6351C>G (p.Ser2117Arg)
c.9579C>G (p.Ser3193Arg)
 gnomAD v4
8g.99854108C>TCA182314767VPS13Bc.10794C>T (p.Ser3598=)
n.10864C>T
c.*6476C>T (n.*6476C>T)
c.10719C>T (p.Ser3573=)
c.10791C>T (p.Ser3597=)
c.10716C>T (p.Ser3572=)
c.10416C>T (p.Ser3472=)
c.7680C>T (p.Ser2560=)
c.6573C>T (p.Ser2191=)
c.10599C>T (p.Ser3533=)
c.6351C>T (p.Ser2117=)
c.9579C>T (p.Ser3193=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99854109A>CCA371785495VPS13Bc.10795A>C (p.Ile3599Leu)
n.10865A>C
c.*6477A>C (n.*6477A>C)
c.10720A>C (p.Ile3574Leu)
c.10792A>C (p.Ile3598Leu)
c.10717A>C (p.Ile3573Leu)
c.10417A>C (p.Ile3473Leu)
c.7681A>C (p.Ile2561Leu)
c.6574A>C (p.Ile2192Leu)
c.10600A>C (p.Ile3534Leu)
c.6352A>C (p.Ile2118Leu)
c.9580A>C (p.Ile3194Leu)
 ClinVar
8g.99854109A>GCA371785492VPS13Bc.10795A>G (p.Ile3599Val)
n.10865A>G
c.*6477A>G (n.*6477A>G)
c.10720A>G (p.Ile3574Val)
c.10792A>G (p.Ile3598Val)
c.10717A>G (p.Ile3573Val)
c.10417A>G (p.Ile3473Val)
c.7681A>G (p.Ile2561Val)
c.6574A>G (p.Ile2192Val)
c.10600A>G (p.Ile3534Val)
c.6352A>G (p.Ile2118Val)
c.9580A>G (p.Ile3194Val)
 dbSNP
8g.99854109A>TCA371785494VPS13Bc.10795A>T (p.Ile3599Phe)
n.10865A>T
c.*6477A>T (n.*6477A>T)
c.10720A>T (p.Ile3574Phe)
c.10792A>T (p.Ile3598Phe)
c.10717A>T (p.Ile3573Phe)
c.10417A>T (p.Ile3473Phe)
c.7681A>T (p.Ile2561Phe)
c.6574A>T (p.Ile2192Phe)
c.10600A>T (p.Ile3534Phe)
c.6352A>T (p.Ile2118Phe)
c.9580A>T (p.Ile3194Phe)
8g.99854110T>ACA371785500VPS13Bc.10796T>A (p.Ile3599Asn)
n.10866T>A
c.*6478T>A (n.*6478T>A)
c.10721T>A (p.Ile3574Asn)
c.10793T>A (p.Ile3598Asn)
c.10718T>A (p.Ile3573Asn)
c.10418T>A (p.Ile3473Asn)
c.7682T>A (p.Ile2561Asn)
c.6575T>A (p.Ile2192Asn)
c.10601T>A (p.Ile3534Asn)
c.6353T>A (p.Ile2118Asn)
c.9581T>A (p.Ile3194Asn)
8g.99854110T>CCA371785509VPS13Bc.10796T>C (p.Ile3599Thr)
n.10866T>C
c.*6478T>C (n.*6478T>C)
c.10721T>C (p.Ile3574Thr)
c.10793T>C (p.Ile3598Thr)
c.10718T>C (p.Ile3573Thr)
c.10418T>C (p.Ile3473Thr)
c.7682T>C (p.Ile2561Thr)
c.6575T>C (p.Ile2192Thr)
c.10601T>C (p.Ile3534Thr)
c.6353T>C (p.Ile2118Thr)
c.9581T>C (p.Ile3194Thr)
8g.99854110T>GCA371785513VPS13Bc.10796T>G (p.Ile3599Ser)
n.10866T>G
c.*6478T>G (n.*6478T>G)
c.10721T>G (p.Ile3574Ser)
c.10793T>G (p.Ile3598Ser)
c.10718T>G (p.Ile3573Ser)
c.10418T>G (p.Ile3473Ser)
c.7682T>G (p.Ile2561Ser)
c.6575T>G (p.Ile2192Ser)
c.10601T>G (p.Ile3534Ser)
c.6353T>G (p.Ile2118Ser)
c.9581T>G (p.Ile3194Ser)
8g.99854111C>ACA462458332VPS13Bc.10797C>A (p.Ile3599=)
n.10867C>A
c.*6479C>A (n.*6479C>A)
c.10722C>A (p.Ile3574=)
c.10794C>A (p.Ile3598=)
c.10719C>A (p.Ile3573=)
c.10419C>A (p.Ile3473=)
c.7683C>A (p.Ile2561=)
c.6576C>A (p.Ile2192=)
c.10602C>A (p.Ile3534=)
c.6354C>A (p.Ile2118=)
c.9582C>A (p.Ile3194=)
8g.99854111C>GCA371785517VPS13Bc.10797C>G (p.Ile3599Met)
n.10867C>G
c.*6479C>G (n.*6479C>G)
c.10722C>G (p.Ile3574Met)
c.10794C>G (p.Ile3598Met)
c.10719C>G (p.Ile3573Met)
c.10419C>G (p.Ile3473Met)
c.7683C>G (p.Ile2561Met)
c.6576C>G (p.Ile2192Met)
c.10602C>G (p.Ile3534Met)
c.6354C>G (p.Ile2118Met)
c.9582C>G (p.Ile3194Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99854111C>TCA462458333VPS13Bc.10797C>T (p.Ile3599=)
n.10867C>T
c.*6479C>T (n.*6479C>T)
c.10722C>T (p.Ile3574=)
c.10794C>T (p.Ile3598=)
c.10719C>T (p.Ile3573=)
c.10419C>T (p.Ile3473=)
c.7683C>T (p.Ile2561=)
c.6576C>T (p.Ile2192=)
c.10602C>T (p.Ile3534=)
c.6354C>T (p.Ile2118=)
c.9582C>T (p.Ile3194=)
8g.99854112C>ACA371785521VPS13Bc.10798C>A (p.His3600Asn)
n.10868C>A
c.*6480C>A (n.*6480C>A)
c.10723C>A (p.His3575Asn)
c.10795C>A (p.His3599Asn)
c.10720C>A (p.His3574Asn)
c.10420C>A (p.His3474Asn)
c.7684C>A (p.His2562Asn)
c.6577C>A (p.His2193Asn)
c.10603C>A (p.His3535Asn)
c.6355C>A (p.His2119Asn)
c.9583C>A (p.His3195Asn)
8g.99854112C>GCA371785525VPS13Bc.10798C>G (p.His3600Asp)
n.10868C>G
c.*6480C>G (n.*6480C>G)
c.10723C>G (p.His3575Asp)
c.10795C>G (p.His3599Asp)
c.10720C>G (p.His3574Asp)
c.10420C>G (p.His3474Asp)
c.7684C>G (p.His2562Asp)
c.6577C>G (p.His2193Asp)
c.10603C>G (p.His3535Asp)
c.6355C>G (p.His2119Asp)
c.9583C>G (p.His3195Asp)
8g.99854112C>TCA371785528VPS13Bc.10798C>T (p.His3600Tyr)
n.10868C>T
c.*6480C>T (n.*6480C>T)
c.10723C>T (p.His3575Tyr)
c.10795C>T (p.His3599Tyr)
c.10720C>T (p.His3574Tyr)
c.10420C>T (p.His3474Tyr)
c.7684C>T (p.His2562Tyr)
c.6577C>T (p.His2193Tyr)
c.10603C>T (p.His3535Tyr)
c.6355C>T (p.His2119Tyr)
c.9583C>T (p.His3195Tyr)
8g.99854113A>CCA371785551VPS13Bc.10799A>C (p.His3600Pro)
n.10869A>C
c.*6481A>C (n.*6481A>C)
c.10724A>C (p.His3575Pro)
c.10796A>C (p.His3599Pro)
c.10721A>C (p.His3574Pro)
c.10421A>C (p.His3474Pro)
c.7685A>C (p.His2562Pro)
c.6578A>C (p.His2193Pro)
c.10604A>C (p.His3535Pro)
c.6356A>C (p.His2119Pro)
c.9584A>C (p.His3195Pro)
8g.99854113A>GCA371785555VPS13Bc.10799A>G (p.His3600Arg)
n.10869A>G
c.*6481A>G (n.*6481A>G)
c.10724A>G (p.His3575Arg)
c.10796A>G (p.His3599Arg)
c.10721A>G (p.His3574Arg)
c.10421A>G (p.His3474Arg)
c.7685A>G (p.His2562Arg)
c.6578A>G (p.His2193Arg)
c.10604A>G (p.His3535Arg)
c.6356A>G (p.His2119Arg)
c.9584A>G (p.His3195Arg)
8g.99854113A>TCA371785560VPS13Bc.10799A>T (p.His3600Leu)
n.10869A>T
c.*6481A>T (n.*6481A>T)
c.10724A>T (p.His3575Leu)
c.10796A>T (p.His3599Leu)
c.10721A>T (p.His3574Leu)
c.10421A>T (p.His3474Leu)
c.7685A>T (p.His2562Leu)
c.6578A>T (p.His2193Leu)
c.10604A>T (p.His3535Leu)
c.6356A>T (p.His2119Leu)
c.9584A>T (p.His3195Leu)
8g.99854114C>ACA371785574VPS13Bc.10800C>A (p.His3600Gln)
n.10870C>A
c.*6482C>A (n.*6482C>A)
c.10725C>A (p.His3575Gln)
c.10797C>A (p.His3599Gln)
c.10722C>A (p.His3574Gln)
c.10422C>A (p.His3474Gln)
c.7686C>A (p.His2562Gln)
c.6579C>A (p.His2193Gln)
c.10605C>A (p.His3535Gln)
c.6357C>A (p.His2119Gln)
c.9585C>A (p.His3195Gln)
8g.99854114C>GCA371785567VPS13Bc.10800C>G (p.His3600Gln)
n.10870C>G
c.*6482C>G (n.*6482C>G)
c.10725C>G (p.His3575Gln)
c.10797C>G (p.His3599Gln)
c.10722C>G (p.His3574Gln)
c.10422C>G (p.His3474Gln)
c.7686C>G (p.His2562Gln)
c.6579C>G (p.His2193Gln)
c.10605C>G (p.His3535Gln)
c.6357C>G (p.His2119Gln)
c.9585C>G (p.His3195Gln)
8g.99854114C>TCA4825008VPS13Bc.10800C>T (p.His3600=)
n.10870C>T
c.*6482C>T (n.*6482C>T)
c.10725C>T (p.His3575=)
c.10797C>T (p.His3599=)
c.10722C>T (p.His3574=)
c.10422C>T (p.His3474=)
c.7686C>T (p.His2562=)
c.6579C>T (p.His2193=)
c.10605C>T (p.His3535=)
c.6357C>T (p.His2119=)
c.9585C>T (p.His3195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854115G>ACA4825009VPS13Bc.10801G>A (p.Ala3601Thr)
n.10871G>A
c.*6483G>A (n.*6483G>A)
c.10726G>A (p.Ala3576Thr)
c.10798G>A (p.Ala3600Thr)
c.10723G>A (p.Ala3575Thr)
c.10423G>A (p.Ala3475Thr)
c.7687G>A (p.Ala2563Thr)
c.6580G>A (p.Ala2194Thr)
c.10606G>A (p.Ala3536Thr)
c.6358G>A (p.Ala2120Thr)
c.9586G>A (p.Ala3196Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854115G>CCA371785588VPS13Bc.10801G>C (p.Ala3601Pro)
n.10871G>C
c.*6483G>C (n.*6483G>C)
c.10726G>C (p.Ala3576Pro)
c.10798G>C (p.Ala3600Pro)
c.10723G>C (p.Ala3575Pro)
c.10423G>C (p.Ala3475Pro)
c.7687G>C (p.Ala2563Pro)
c.6580G>C (p.Ala2194Pro)
c.10606G>C (p.Ala3536Pro)
c.6358G>C (p.Ala2120Pro)
c.9586G>C (p.Ala3196Pro)
8g.99854115G>TCA371785589VPS13Bc.10801G>T (p.Ala3601Ser)
n.10871G>T
c.*6483G>T (n.*6483G>T)
c.10726G>T (p.Ala3576Ser)
c.10798G>T (p.Ala3600Ser)
c.10723G>T (p.Ala3575Ser)
c.10423G>T (p.Ala3475Ser)
c.7687G>T (p.Ala2563Ser)
c.6580G>T (p.Ala2194Ser)
c.10606G>T (p.Ala3536Ser)
c.6358G>T (p.Ala2120Ser)
c.9586G>T (p.Ala3196Ser)
 gnomAD v4
8g.99854116C>ACA371785604VPS13Bc.10802C>A (p.Ala3601Asp)
n.10872C>A
c.*6484C>A (n.*6484C>A)
c.10727C>A (p.Ala3576Asp)
c.10799C>A (p.Ala3600Asp)
c.10724C>A (p.Ala3575Asp)
c.10424C>A (p.Ala3475Asp)
c.7688C>A (p.Ala2563Asp)
c.6581C>A (p.Ala2194Asp)
c.10607C>A (p.Ala3536Asp)
c.6359C>A (p.Ala2120Asp)
c.9587C>A (p.Ala3196Asp)
8g.99854116C>GCA371785610VPS13Bc.10802C>G (p.Ala3601Gly)
n.10872C>G
c.*6484C>G (n.*6484C>G)
c.10727C>G (p.Ala3576Gly)
c.10799C>G (p.Ala3600Gly)
c.10724C>G (p.Ala3575Gly)
c.10424C>G (p.Ala3475Gly)
c.7688C>G (p.Ala2563Gly)
c.6581C>G (p.Ala2194Gly)
c.10607C>G (p.Ala3536Gly)
c.6359C>G (p.Ala2120Gly)
c.9587C>G (p.Ala3196Gly)
 gnomAD v4
8g.99854116C>TCA371785613VPS13Bc.10802C>T (p.Ala3601Val)
n.10872C>T
c.*6484C>T (n.*6484C>T)
c.10727C>T (p.Ala3576Val)
c.10799C>T (p.Ala3600Val)
c.10724C>T (p.Ala3575Val)
c.10424C>T (p.Ala3475Val)
c.7688C>T (p.Ala2563Val)
c.6581C>T (p.Ala2194Val)
c.10607C>T (p.Ala3536Val)
c.6359C>T (p.Ala2120Val)
c.9587C>T (p.Ala3196Val)
 dbSNP
8g.99854117T>ACA462458334VPS13Bc.10803T>A (p.Ala3601=)
n.10873T>A
c.*6485T>A (n.*6485T>A)
c.10728T>A (p.Ala3576=)
c.10800T>A (p.Ala3600=)
c.10725T>A (p.Ala3575=)
c.10425T>A (p.Ala3475=)
c.7689T>A (p.Ala2563=)
c.6582T>A (p.Ala2194=)
c.10608T>A (p.Ala3536=)
c.6360T>A (p.Ala2120=)
c.9588T>A (p.Ala3196=)
8g.99854117T>CCA462458335VPS13Bc.10803T>C (p.Ala3601=)
n.10873T>C
c.*6485T>C (n.*6485T>C)
c.10728T>C (p.Ala3576=)
c.10800T>C (p.Ala3600=)
c.10725T>C (p.Ala3575=)
c.10425T>C (p.Ala3475=)
c.7689T>C (p.Ala2563=)
c.6582T>C (p.Ala2194=)
c.10608T>C (p.Ala3536=)
c.6360T>C (p.Ala2120=)
c.9588T>C (p.Ala3196=)
 ClinVar gnomAD v4
8g.99854117T>GCA462458336VPS13Bc.10803T>G (p.Ala3601=)
n.10873T>G
c.*6485T>G (n.*6485T>G)
c.10728T>G (p.Ala3576=)
c.10800T>G (p.Ala3600=)
c.10725T>G (p.Ala3575=)
c.10425T>G (p.Ala3475=)
c.7689T>G (p.Ala2563=)
c.6582T>G (p.Ala2194=)
c.10608T>G (p.Ala3536=)
c.6360T>G (p.Ala2120=)
c.9588T>G (p.Ala3196=)
8g.99854118T>ACA371785619VPS13Bc.10804T>A (p.Ser3602Thr)
n.10874T>A
c.*6486T>A (n.*6486T>A)
c.10729T>A (p.Ser3577Thr)
c.10801T>A (p.Ser3601Thr)
c.10726T>A (p.Ser3576Thr)
c.10426T>A (p.Ser3476Thr)
c.7690T>A (p.Ser2564Thr)
c.6583T>A (p.Ser2195Thr)
c.10609T>A (p.Ser3537Thr)
c.6361T>A (p.Ser2121Thr)
c.9589T>A (p.Ser3197Thr)
8g.99854118T>CCA371785620VPS13Bc.10804T>C (p.Ser3602Pro)
n.10874T>C
c.*6486T>C (n.*6486T>C)
c.10729T>C (p.Ser3577Pro)
c.10801T>C (p.Ser3601Pro)
c.10726T>C (p.Ser3576Pro)
c.10426T>C (p.Ser3476Pro)
c.7690T>C (p.Ser2564Pro)
c.6583T>C (p.Ser2195Pro)
c.10609T>C (p.Ser3537Pro)
c.6361T>C (p.Ser2121Pro)
c.9589T>C (p.Ser3197Pro)
8g.99854118T>GCA371785624VPS13Bc.10804T>G (p.Ser3602Ala)
n.10874T>G
c.*6486T>G (n.*6486T>G)
c.10729T>G (p.Ser3577Ala)
c.10801T>G (p.Ser3601Ala)
c.10726T>G (p.Ser3576Ala)
c.10426T>G (p.Ser3476Ala)
c.7690T>G (p.Ser2564Ala)
c.6583T>G (p.Ser2195Ala)
c.10609T>G (p.Ser3537Ala)
c.6361T>G (p.Ser2121Ala)
c.9589T>G (p.Ser3197Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.99854119C>ACA371785628VPS13Bc.10805C>A (p.Ser3602Tyr)
n.10875C>A
c.*6487C>A (n.*6487C>A)
c.10730C>A (p.Ser3577Tyr)
c.10802C>A (p.Ser3601Tyr)
c.10727C>A (p.Ser3576Tyr)
c.10427C>A (p.Ser3476Tyr)
c.7691C>A (p.Ser2564Tyr)
c.6584C>A (p.Ser2195Tyr)
c.10610C>A (p.Ser3537Tyr)
c.6362C>A (p.Ser2121Tyr)
c.9590C>A (p.Ser3197Tyr)
8g.99854119C>GCA371785631VPS13Bc.10805C>G (p.Ser3602Cys)
n.10875C>G
c.*6487C>G (n.*6487C>G)
c.10730C>G (p.Ser3577Cys)
c.10802C>G (p.Ser3601Cys)
c.10727C>G (p.Ser3576Cys)
c.10427C>G (p.Ser3476Cys)
c.7691C>G (p.Ser2564Cys)
c.6584C>G (p.Ser2195Cys)
c.10610C>G (p.Ser3537Cys)
c.6362C>G (p.Ser2121Cys)
c.9590C>G (p.Ser3197Cys)
8g.99854119C>TCA371785634VPS13Bc.10805C>T (p.Ser3602Phe)
n.10875C>T
c.*6487C>T (n.*6487C>T)
c.10730C>T (p.Ser3577Phe)
c.10802C>T (p.Ser3601Phe)
c.10727C>T (p.Ser3576Phe)
c.10427C>T (p.Ser3476Phe)
c.7691C>T (p.Ser2564Phe)
c.6584C>T (p.Ser2195Phe)
c.10610C>T (p.Ser3537Phe)
c.6362C>T (p.Ser2121Phe)
c.9590C>T (p.Ser3197Phe)
8g.99854120C>ACA462458337VPS13Bc.10806C>A (p.Ser3602=)
n.10876C>A
c.*6488C>A (n.*6488C>A)
c.10731C>A (p.Ser3577=)
c.10803C>A (p.Ser3601=)
c.10728C>A (p.Ser3576=)
c.10428C>A (p.Ser3476=)
c.7692C>A (p.Ser2564=)
c.6585C>A (p.Ser2195=)
c.10611C>A (p.Ser3537=)
c.6363C>A (p.Ser2121=)
c.9591C>A (p.Ser3197=)
8g.99854120C>GCA462458338VPS13Bc.10806C>G (p.Ser3602=)
n.10876C>G
c.*6488C>G (n.*6488C>G)
c.10731C>G (p.Ser3577=)
c.10803C>G (p.Ser3601=)
c.10728C>G (p.Ser3576=)
c.10428C>G (p.Ser3476=)
c.7692C>G (p.Ser2564=)
c.6585C>G (p.Ser2195=)
c.10611C>G (p.Ser3537=)
c.6363C>G (p.Ser2121=)
c.9591C>G (p.Ser3197=)
 gnomAD v4
8g.99854120C>TCA462458339VPS13Bc.10806C>T (p.Ser3602=)
n.10876C>T
c.*6488C>T (n.*6488C>T)
c.10731C>T (p.Ser3577=)
c.10803C>T (p.Ser3601=)
c.10728C>T (p.Ser3576=)
c.10428C>T (p.Ser3476=)
c.7692C>T (p.Ser2564=)
c.6585C>T (p.Ser2195=)
c.10611C>T (p.Ser3537=)
c.6363C>T (p.Ser2121=)
c.9591C>T (p.Ser3197=)
 gnomAD v4
8g.99854121C>ACA371785642VPS13Bc.10807C>A (p.Leu3603Ile)
n.10877C>A
c.*6489C>A (n.*6489C>A)
c.10732C>A (p.Leu3578Ile)
c.10804C>A (p.Leu3602Ile)
c.10729C>A (p.Leu3577Ile)
c.10429C>A (p.Leu3477Ile)
c.7693C>A (p.Leu2565Ile)
c.6586C>A (p.Leu2196Ile)
c.10612C>A (p.Leu3538Ile)
c.6364C>A (p.Leu2122Ile)
c.9592C>A (p.Leu3198Ile)
8g.99854121C>GCA371785641VPS13Bc.10807C>G (p.Leu3603Val)
n.10877C>G
c.*6489C>G (n.*6489C>G)
c.10732C>G (p.Leu3578Val)
c.10804C>G (p.Leu3602Val)
c.10729C>G (p.Leu3577Val)
c.10429C>G (p.Leu3477Val)
c.7693C>G (p.Leu2565Val)
c.6586C>G (p.Leu2196Val)
c.10612C>G (p.Leu3538Val)
c.6364C>G (p.Leu2122Val)
c.9592C>G (p.Leu3198Val)
8g.99854121C>TCA371785637VPS13Bc.10807C>T (p.Leu3603Phe)
n.10877C>T
c.*6489C>T (n.*6489C>T)
c.10732C>T (p.Leu3578Phe)
c.10804C>T (p.Leu3602Phe)
c.10729C>T (p.Leu3577Phe)
c.10429C>T (p.Leu3477Phe)
c.7693C>T (p.Leu2565Phe)
c.6586C>T (p.Leu2196Phe)
c.10612C>T (p.Leu3538Phe)
c.6364C>T (p.Leu2122Phe)
c.9592C>T (p.Leu3198Phe)
8g.99854122T>ACA371785648VPS13Bc.10808T>A (p.Leu3603His)
n.10878T>A
c.*6490T>A (n.*6490T>A)
c.10733T>A (p.Leu3578His)
c.10805T>A (p.Leu3602His)
c.10730T>A (p.Leu3577His)
c.10430T>A (p.Leu3477His)
c.7694T>A (p.Leu2565His)
c.6587T>A (p.Leu2196His)
c.10613T>A (p.Leu3538His)
c.6365T>A (p.Leu2122His)
c.9593T>A (p.Leu3198His)
8g.99854122T>CCA371785654VPS13Bc.10808T>C (p.Leu3603Pro)
n.10878T>C
c.*6490T>C (n.*6490T>C)
c.10733T>C (p.Leu3578Pro)
c.10805T>C (p.Leu3602Pro)
c.10730T>C (p.Leu3577Pro)
c.10430T>C (p.Leu3477Pro)
c.7694T>C (p.Leu2565Pro)
c.6587T>C (p.Leu2196Pro)
c.10613T>C (p.Leu3538Pro)
c.6365T>C (p.Leu2122Pro)
c.9593T>C (p.Leu3198Pro)
8g.99854122T>GCA371785656VPS13Bc.10808T>G (p.Leu3603Arg)
n.10878T>G
c.*6490T>G (n.*6490T>G)
c.10733T>G (p.Leu3578Arg)
c.10805T>G (p.Leu3602Arg)
c.10730T>G (p.Leu3577Arg)
c.10430T>G (p.Leu3477Arg)
c.7694T>G (p.Leu2565Arg)
c.6587T>G (p.Leu2196Arg)
c.10613T>G (p.Leu3538Arg)
c.6365T>G (p.Leu2122Arg)
c.9593T>G (p.Leu3198Arg)
8g.99854123C>ACA462458340VPS13Bc.10809C>A (p.Leu3603=)
n.10879C>A
c.*6491C>A (n.*6491C>A)
c.10734C>A (p.Leu3578=)
c.10806C>A (p.Leu3602=)
c.10731C>A (p.Leu3577=)
c.10431C>A (p.Leu3477=)
c.7695C>A (p.Leu2565=)
c.6588C>A (p.Leu2196=)
c.10614C>A (p.Leu3538=)
c.6366C>A (p.Leu2122=)
c.9594C>A (p.Leu3198=)
8g.99854123C>GCA462458341VPS13Bc.10809C>G (p.Leu3603=)
n.10879C>G
c.*6491C>G (n.*6491C>G)
c.10734C>G (p.Leu3578=)
c.10806C>G (p.Leu3602=)
c.10731C>G (p.Leu3577=)
c.10431C>G (p.Leu3477=)
c.7695C>G (p.Leu2565=)
c.6588C>G (p.Leu2196=)
c.10614C>G (p.Leu3538=)
c.6366C>G (p.Leu2122=)
c.9594C>G (p.Leu3198=)
 gnomAD v4 COSMIC COSMIC
8g.99854123C>TCA462458342VPS13Bc.10809C>T (p.Leu3603=)
n.10879C>T
c.*6491C>T (n.*6491C>T)
c.10734C>T (p.Leu3578=)
c.10806C>T (p.Leu3602=)
c.10731C>T (p.Leu3577=)
c.10431C>T (p.Leu3477=)
c.7695C>T (p.Leu2565=)
c.6588C>T (p.Leu2196=)
c.10614C>T (p.Leu3538=)
c.6366C>T (p.Leu2122=)
c.9594C>T (p.Leu3198=)
 gnomAD v4 COSMIC COSMIC
8g.99854124A>CCA371785661VPS13Bc.10810A>C (p.Lys3604Gln)
n.10880A>C
c.*6492A>C (n.*6492A>C)
c.10735A>C (p.Lys3579Gln)
c.10807A>C (p.Lys3603Gln)
c.10732A>C (p.Lys3578Gln)
c.10432A>C (p.Lys3478Gln)
c.7696A>C (p.Lys2566Gln)
c.6589A>C (p.Lys2197Gln)
c.10615A>C (p.Lys3539Gln)
c.6367A>C (p.Lys2123Gln)
c.9595A>C (p.Lys3199Gln)
 gnomAD v4
8g.99854124A>GCA371785663VPS13Bc.10810A>G (p.Lys3604Glu)
n.10880A>G
c.*6492A>G (n.*6492A>G)
c.10735A>G (p.Lys3579Glu)
c.10807A>G (p.Lys3603Glu)
c.10732A>G (p.Lys3578Glu)
c.10432A>G (p.Lys3478Glu)
c.7696A>G (p.Lys2566Glu)
c.6589A>G (p.Lys2197Glu)
c.10615A>G (p.Lys3539Glu)
c.6367A>G (p.Lys2123Glu)
c.9595A>G (p.Lys3199Glu)
8g.99854124A>TCA16605287VPS13Bc.10810A>T (p.Lys3604Ter)
n.10880A>T
c.*6492A>T (n.*6492A>T)
c.10735A>T (p.Lys3579Ter)
c.10807A>T (p.Lys3603Ter)
c.10732A>T (p.Lys3578Ter)
c.10432A>T (p.Lys3478Ter)
c.7696A>T (p.Lys2566Ter)
c.6589A>T (p.Lys2197Ter)
c.10615A>T (p.Lys3539Ter)
c.6367A>T (p.Lys2123Ter)
c.9595A>T (p.Lys3199Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99854125A>CCA371785669VPS13Bc.10811A>C (p.Lys3604Thr)
n.10881A>C
c.*6493A>C (n.*6493A>C)
c.10736A>C (p.Lys3579Thr)
c.10808A>C (p.Lys3603Thr)
c.10733A>C (p.Lys3578Thr)
c.10433A>C (p.Lys3478Thr)
c.7697A>C (p.Lys2566Thr)
c.6590A>C (p.Lys2197Thr)
c.10616A>C (p.Lys3539Thr)
c.6368A>C (p.Lys2123Thr)
c.9596A>C (p.Lys3199Thr)
8g.99854125A>GCA371785672VPS13Bc.10811A>G (p.Lys3604Arg)
n.10881A>G
c.*6493A>G (n.*6493A>G)
c.10736A>G (p.Lys3579Arg)
c.10808A>G (p.Lys3603Arg)
c.10733A>G (p.Lys3578Arg)
c.10433A>G (p.Lys3478Arg)
c.7697A>G (p.Lys2566Arg)
c.6590A>G (p.Lys2197Arg)
c.10616A>G (p.Lys3539Arg)
c.6368A>G (p.Lys2123Arg)
c.9596A>G (p.Lys3199Arg)
8g.99854125A>TCA371785675VPS13Bc.10811A>T (p.Lys3604Met)
n.10881A>T
c.*6493A>T (n.*6493A>T)
c.10736A>T (p.Lys3579Met)
c.10808A>T (p.Lys3603Met)
c.10733A>T (p.Lys3578Met)
c.10433A>T (p.Lys3478Met)
c.7697A>T (p.Lys2566Met)
c.6590A>T (p.Lys2197Met)
c.10616A>T (p.Lys3539Met)
c.6368A>T (p.Lys2123Met)
c.9596A>T (p.Lys3199Met)
8g.99854126G>ACA462458343VPS13Bc.10812G>A (p.Lys3604=)
n.10882G>A
c.*6494G>A (n.*6494G>A)
c.10737G>A (p.Lys3579=)
c.10809G>A (p.Lys3603=)
c.10734G>A (p.Lys3578=)
c.10434G>A (p.Lys3478=)
c.7698G>A (p.Lys2566=)
c.6591G>A (p.Lys2197=)
c.10617G>A (p.Lys3539=)
c.6369G>A (p.Lys2123=)
c.9597G>A (p.Lys3199=)
8g.99854126G>CCA371785681VPS13Bc.10812G>C (p.Lys3604Asn)
n.10882G>C
c.*6494G>C (n.*6494G>C)
c.10737G>C (p.Lys3579Asn)
c.10809G>C (p.Lys3603Asn)
c.10734G>C (p.Lys3578Asn)
c.10434G>C (p.Lys3478Asn)
c.7698G>C (p.Lys2566Asn)
c.6591G>C (p.Lys2197Asn)
c.10617G>C (p.Lys3539Asn)
c.6369G>C (p.Lys2123Asn)
c.9597G>C (p.Lys3199Asn)
8g.99854126G>TCA371785683VPS13Bc.10812G>T (p.Lys3604Asn)
n.10882G>T
c.*6494G>T (n.*6494G>T)
c.10737G>T (p.Lys3579Asn)
c.10809G>T (p.Lys3603Asn)
c.10734G>T (p.Lys3578Asn)
c.10434G>T (p.Lys3478Asn)
c.7698G>T (p.Lys2566Asn)
c.6591G>T (p.Lys2197Asn)
c.10617G>T (p.Lys3539Asn)
c.6369G>T (p.Lys2123Asn)
c.9597G>T (p.Lys3199Asn)
8g.99854127C>ACA371785684VPS13Bc.10813C>A (p.Leu3605Met)
n.10883C>A
c.*6495C>A (n.*6495C>A)
c.10738C>A (p.Leu3580Met)
c.10810C>A (p.Leu3604Met)
c.10735C>A (p.Leu3579Met)
c.10435C>A (p.Leu3479Met)
c.7699C>A (p.Leu2567Met)
c.6592C>A (p.Leu2198Met)
c.10618C>A (p.Leu3540Met)
c.6370C>A (p.Leu2124Met)
c.9598C>A (p.Leu3200Met)
8g.99854127C>GCA371785686VPS13Bc.10813C>G (p.Leu3605Val)
n.10883C>G
c.*6495C>G (n.*6495C>G)
c.10738C>G (p.Leu3580Val)
c.10810C>G (p.Leu3604Val)
c.10735C>G (p.Leu3579Val)
c.10435C>G (p.Leu3479Val)
c.7699C>G (p.Leu2567Val)
c.6592C>G (p.Leu2198Val)
c.10618C>G (p.Leu3540Val)
c.6370C>G (p.Leu2124Val)
c.9598C>G (p.Leu3200Val)
8g.99854127C>TCA462458344VPS13Bc.10813C>T (p.Leu3605=)
n.10883C>T
c.*6495C>T (n.*6495C>T)
c.10738C>T (p.Leu3580=)
c.10810C>T (p.Leu3604=)
c.10735C>T (p.Leu3579=)
c.10435C>T (p.Leu3479=)
c.7699C>T (p.Leu2567=)
c.6592C>T (p.Leu2198=)
c.10618C>T (p.Leu3540=)
c.6370C>T (p.Leu2124=)
c.9598C>T (p.Leu3200=)
 dbSNP gnomAD v2
8g.99854128T>ACA371785691VPS13Bc.10814T>A (p.Leu3605Gln)
n.10884T>A
c.*6496T>A (n.*6496T>A)
c.10739T>A (p.Leu3580Gln)
c.10811T>A (p.Leu3604Gln)
c.10736T>A (p.Leu3579Gln)
c.10436T>A (p.Leu3479Gln)
c.7700T>A (p.Leu2567Gln)
c.6593T>A (p.Leu2198Gln)
c.10619T>A (p.Leu3540Gln)
c.6371T>A (p.Leu2124Gln)
c.9599T>A (p.Leu3200Gln)
8g.99854128T>CCA371785689VPS13Bc.10814T>C (p.Leu3605Pro)
n.10884T>C
c.*6496T>C (n.*6496T>C)
c.10739T>C (p.Leu3580Pro)
c.10811T>C (p.Leu3604Pro)
c.10736T>C (p.Leu3579Pro)
c.10436T>C (p.Leu3479Pro)
c.7700T>C (p.Leu2567Pro)
c.6593T>C (p.Leu2198Pro)
c.10619T>C (p.Leu3540Pro)
c.6371T>C (p.Leu2124Pro)
c.9599T>C (p.Leu3200Pro)
 ClinVar
8g.99854128T>GCA371785690VPS13Bc.10814T>G (p.Leu3605Arg)
n.10884T>G
c.*6496T>G (n.*6496T>G)
c.10739T>G (p.Leu3580Arg)
c.10811T>G (p.Leu3604Arg)
c.10736T>G (p.Leu3579Arg)
c.10436T>G (p.Leu3479Arg)
c.7700T>G (p.Leu2567Arg)
c.6593T>G (p.Leu2198Arg)
c.10619T>G (p.Leu3540Arg)
c.6371T>G (p.Leu2124Arg)
c.9599T>G (p.Leu3200Arg)
8g.99854129G>ACA182314804VPS13Bc.10815G>A (p.Leu3605=)
n.10885G>A
c.*6497G>A (n.*6497G>A)
c.10740G>A (p.Leu3580=)
c.10812G>A (p.Leu3604=)
c.10737G>A (p.Leu3579=)
c.10437G>A (p.Leu3479=)
c.7701G>A (p.Leu2567=)
c.6594G>A (p.Leu2198=)
c.10620G>A (p.Leu3540=)
c.6372G>A (p.Leu2124=)
c.9600G>A (p.Leu3200=)
 ClinVar dbSNP gnomAD v4
8g.99854129G>CCA462458345VPS13Bc.10815G>C (p.Leu3605=)
n.10885G>C
c.*6497G>C (n.*6497G>C)
c.10740G>C (p.Leu3580=)
c.10812G>C (p.Leu3604=)
c.10737G>C (p.Leu3579=)
c.10437G>C (p.Leu3479=)
c.7701G>C (p.Leu2567=)
c.6594G>C (p.Leu2198=)
c.10620G>C (p.Leu3540=)
c.6372G>C (p.Leu2124=)
c.9600G>C (p.Leu3200=)
 gnomAD v4
8g.99854129G>TCA462458346VPS13Bc.10815G>T (p.Leu3605=)
n.10885G>T
c.*6497G>T (n.*6497G>T)
c.10740G>T (p.Leu3580=)
c.10812G>T (p.Leu3604=)
c.10737G>T (p.Leu3579=)
c.10437G>T (p.Leu3479=)
c.7701G>T (p.Leu2567=)
c.6594G>T (p.Leu2198=)
c.10620G>T (p.Leu3540=)
c.6372G>T (p.Leu2124=)
c.9600G>T (p.Leu3200=)
 ClinVar dbSNP
8g.99854130T>ACA371785697VPS13Bc.10816T>A (p.Tyr3606Asn)
n.10886T>A
c.*6498T>A (n.*6498T>A)
c.10741T>A (p.Tyr3581Asn)
c.10813T>A (p.Tyr3605Asn)
c.10738T>A (p.Tyr3580Asn)
c.10438T>A (p.Tyr3480Asn)
c.7702T>A (p.Tyr2568Asn)
c.6595T>A (p.Tyr2199Asn)
c.10621T>A (p.Tyr3541Asn)
c.6373T>A (p.Tyr2125Asn)
c.9601T>A (p.Tyr3201Asn)
8g.99854130T>CCA371785703VPS13Bc.10816T>C (p.Tyr3606His)
n.10886T>C
c.*6498T>C (n.*6498T>C)
c.10741T>C (p.Tyr3581His)
c.10813T>C (p.Tyr3605His)
c.10738T>C (p.Tyr3580His)
c.10438T>C (p.Tyr3480His)
c.7702T>C (p.Tyr2568His)
c.6595T>C (p.Tyr2199His)
c.10621T>C (p.Tyr3541His)
c.6373T>C (p.Tyr2125His)
c.9601T>C (p.Tyr3201His)
8g.99854130T>GCA371785706VPS13Bc.10816T>G (p.Tyr3606Asp)
n.10886T>G
c.*6498T>G (n.*6498T>G)
c.10741T>G (p.Tyr3581Asp)
c.10813T>G (p.Tyr3605Asp)
c.10738T>G (p.Tyr3580Asp)
c.10438T>G (p.Tyr3480Asp)
c.7702T>G (p.Tyr2568Asp)
c.6595T>G (p.Tyr2199Asp)
c.10621T>G (p.Tyr3541Asp)
c.6373T>G (p.Tyr2125Asp)
c.9601T>G (p.Tyr3201Asp)
8g.99854131A>CCA371785714VPS13Bc.10817A>C (p.Tyr3606Ser)
n.10887A>C
c.*6499A>C (n.*6499A>C)
c.10742A>C (p.Tyr3581Ser)
c.10814A>C (p.Tyr3605Ser)
c.10739A>C (p.Tyr3580Ser)
c.10439A>C (p.Tyr3480Ser)
c.7703A>C (p.Tyr2568Ser)
c.6596A>C (p.Tyr2199Ser)
c.10622A>C (p.Tyr3541Ser)
c.6374A>C (p.Tyr2125Ser)
c.9602A>C (p.Tyr3201Ser)
8g.99854131A>GCA371785717VPS13Bc.10817A>G (p.Tyr3606Cys)
n.10887A>G
c.*6499A>G (n.*6499A>G)
c.10742A>G (p.Tyr3581Cys)
c.10814A>G (p.Tyr3605Cys)
c.10739A>G (p.Tyr3580Cys)
c.10439A>G (p.Tyr3480Cys)
c.7703A>G (p.Tyr2568Cys)
c.6596A>G (p.Tyr2199Cys)
c.10622A>G (p.Tyr3541Cys)
c.6374A>G (p.Tyr2125Cys)
c.9602A>G (p.Tyr3201Cys)
 gnomAD v4
8g.99854131A>TCA371785720VPS13Bc.10817A>T (p.Tyr3606Phe)
n.10887A>T
c.*6499A>T (n.*6499A>T)
c.10742A>T (p.Tyr3581Phe)
c.10814A>T (p.Tyr3605Phe)
c.10739A>T (p.Tyr3580Phe)
c.10439A>T (p.Tyr3480Phe)
c.7703A>T (p.Tyr2568Phe)
c.6596A>T (p.Tyr2199Phe)
c.10622A>T (p.Tyr3541Phe)
c.6374A>T (p.Tyr2125Phe)
c.9602A>T (p.Tyr3201Phe)
8g.99854132C>ACA371785723VPS13Bc.10818C>A (p.Tyr3606Ter)
n.10888C>A
c.*6500C>A (n.*6500C>A)
c.10743C>A (p.Tyr3581Ter)
c.10815C>A (p.Tyr3605Ter)
c.10740C>A (p.Tyr3580Ter)
c.10440C>A (p.Tyr3480Ter)
c.7704C>A (p.Tyr2568Ter)
c.6597C>A (p.Tyr2199Ter)
c.10623C>A (p.Tyr3541Ter)
c.6375C>A (p.Tyr2125Ter)
c.9603C>A (p.Tyr3201Ter)
8g.99854132C>GCA371785726VPS13Bc.10818C>G (p.Tyr3606Ter)
n.10888C>G
c.*6500C>G (n.*6500C>G)
c.10743C>G (p.Tyr3581Ter)
c.10815C>G (p.Tyr3605Ter)
c.10740C>G (p.Tyr3580Ter)
c.10440C>G (p.Tyr3480Ter)
c.7704C>G (p.Tyr2568Ter)
c.6597C>G (p.Tyr2199Ter)
c.10623C>G (p.Tyr3541Ter)
c.6375C>G (p.Tyr2125Ter)
c.9603C>G (p.Tyr3201Ter)
 gnomAD v4
8g.99854132C>TCA462458347VPS13Bc.10818C>T (p.Tyr3606=)
n.10888C>T
c.*6500C>T (n.*6500C>T)
c.10743C>T (p.Tyr3581=)
c.10815C>T (p.Tyr3605=)
c.10740C>T (p.Tyr3580=)
c.10440C>T (p.Tyr3480=)
c.7704C>T (p.Tyr2568=)
c.6597C>T (p.Tyr2199=)
c.10623C>T (p.Tyr3541=)
c.6375C>T (p.Tyr2125=)
c.9603C>T (p.Tyr3201=)
 ClinVar

Number of alleles fetched