Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
8g.99854133A>CCA371785730VPS13Bc.10819A>C (p.Ile3607Leu)
n.10889A>C
c.*6501A>C (n.*6501A>C)
c.10744A>C (p.Ile3582Leu)
c.10816A>C (p.Ile3606Leu)
c.10741A>C (p.Ile3581Leu)
c.10441A>C (p.Ile3481Leu)
c.7705A>C (p.Ile2569Leu)
c.6598A>C (p.Ile2200Leu)
c.10624A>C (p.Ile3542Leu)
c.6376A>C (p.Ile2126Leu)
c.9604A>C (p.Ile3202Leu)
8g.99854133A>GCA223343VPS13Bc.10819A>G (p.Ile3607Val)
n.10889A>G
c.*6501A>G (n.*6501A>G)
c.10744A>G (p.Ile3582Val)
c.10816A>G (p.Ile3606Val)
c.10741A>G (p.Ile3581Val)
c.10441A>G (p.Ile3481Val)
c.7705A>G (p.Ile2569Val)
c.6598A>G (p.Ile2200Val)
c.10624A>G (p.Ile3542Val)
c.6376A>G (p.Ile2126Val)
c.9604A>G (p.Ile3202Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854133A>TCA371785733VPS13Bc.10819A>T (p.Ile3607Leu)
n.10889A>T
c.*6501A>T (n.*6501A>T)
c.10744A>T (p.Ile3582Leu)
c.10816A>T (p.Ile3606Leu)
c.10741A>T (p.Ile3581Leu)
c.10441A>T (p.Ile3481Leu)
c.7705A>T (p.Ile2569Leu)
c.6598A>T (p.Ile2200Leu)
c.10624A>T (p.Ile3542Leu)
c.6376A>T (p.Ile2126Leu)
c.9604A>T (p.Ile3202Leu)
8g.99854134T>ACA371785739VPS13Bc.10820T>A (p.Ile3607Lys)
n.10890T>A
c.*6502T>A (n.*6502T>A)
c.10745T>A (p.Ile3582Lys)
c.10817T>A (p.Ile3606Lys)
c.10742T>A (p.Ile3581Lys)
c.10442T>A (p.Ile3481Lys)
c.7706T>A (p.Ile2569Lys)
c.6599T>A (p.Ile2200Lys)
c.10625T>A (p.Ile3542Lys)
c.6377T>A (p.Ile2126Lys)
c.9605T>A (p.Ile3202Lys)
8g.99854134T>CCA371785736VPS13Bc.10820T>C (p.Ile3607Thr)
n.10890T>C
c.*6502T>C (n.*6502T>C)
c.10745T>C (p.Ile3582Thr)
c.10817T>C (p.Ile3606Thr)
c.10742T>C (p.Ile3581Thr)
c.10442T>C (p.Ile3481Thr)
c.7706T>C (p.Ile2569Thr)
c.6599T>C (p.Ile2200Thr)
c.10625T>C (p.Ile3542Thr)
c.6377T>C (p.Ile2126Thr)
c.9605T>C (p.Ile3202Thr)
 dbSNP gnomAD v4
8g.99854134T>GCA371785734VPS13Bc.10820T>G (p.Ile3607Arg)
n.10890T>G
c.*6502T>G (n.*6502T>G)
c.10745T>G (p.Ile3582Arg)
c.10817T>G (p.Ile3606Arg)
c.10742T>G (p.Ile3581Arg)
c.10442T>G (p.Ile3481Arg)
c.7706T>G (p.Ile2569Arg)
c.6599T>G (p.Ile2200Arg)
c.10625T>G (p.Ile3542Arg)
c.6377T>G (p.Ile2126Arg)
c.9605T>G (p.Ile3202Arg)
8g.99854135A>CCA462458351VPS13Bc.10821A>C (p.Ile3607=)
n.10891A>C
c.*6503A>C (n.*6503A>C)
c.10746A>C (p.Ile3582=)
c.10818A>C (p.Ile3606=)
c.10743A>C (p.Ile3581=)
c.10443A>C (p.Ile3481=)
c.7707A>C (p.Ile2569=)
c.6600A>C (p.Ile2200=)
c.10626A>C (p.Ile3542=)
c.6378A>C (p.Ile2126=)
c.9606A>C (p.Ile3202=)
8g.99854135A>GCA371785742VPS13Bc.10821A>G (p.Ile3607Met)
n.10891A>G
c.*6503A>G (n.*6503A>G)
c.10746A>G (p.Ile3582Met)
c.10818A>G (p.Ile3606Met)
c.10743A>G (p.Ile3581Met)
c.10443A>G (p.Ile3481Met)
c.7707A>G (p.Ile2569Met)
c.6600A>G (p.Ile2200Met)
c.10626A>G (p.Ile3542Met)
c.6378A>G (p.Ile2126Met)
c.9606A>G (p.Ile3202Met)
8g.99854135A>TCA462458349VPS13Bc.10821A>T (p.Ile3607=)
n.10891A>T
c.*6503A>T (n.*6503A>T)
c.10746A>T (p.Ile3582=)
c.10818A>T (p.Ile3606=)
c.10743A>T (p.Ile3581=)
c.10443A>T (p.Ile3481=)
c.7707A>T (p.Ile2569=)
c.6600A>T (p.Ile2200=)
c.10626A>T (p.Ile3542=)
c.6378A>T (p.Ile2126=)
c.9606A>T (p.Ile3202=)
8g.99854136G>ACA371785751VPS13Bc.10822G>A (p.Ala3608Thr)
n.10892G>A
c.*6504G>A (n.*6504G>A)
c.10747G>A (p.Ala3583Thr)
c.10819G>A (p.Ala3607Thr)
c.10744G>A (p.Ala3582Thr)
c.10444G>A (p.Ala3482Thr)
c.7708G>A (p.Ala2570Thr)
c.6601G>A (p.Ala2201Thr)
c.10627G>A (p.Ala3543Thr)
c.6379G>A (p.Ala2127Thr)
c.9607G>A (p.Ala3203Thr)
8g.99854136G>CCA371785748VPS13Bc.10822G>C (p.Ala3608Pro)
n.10892G>C
c.*6504G>C (n.*6504G>C)
c.10747G>C (p.Ala3583Pro)
c.10819G>C (p.Ala3607Pro)
c.10744G>C (p.Ala3582Pro)
c.10444G>C (p.Ala3482Pro)
c.7708G>C (p.Ala2570Pro)
c.6601G>C (p.Ala2201Pro)
c.10627G>C (p.Ala3543Pro)
c.6379G>C (p.Ala2127Pro)
c.9607G>C (p.Ala3203Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.99854136G>TCA371785750VPS13Bc.10822G>T (p.Ala3608Ser)
n.10892G>T
c.*6504G>T (n.*6504G>T)
c.10747G>T (p.Ala3583Ser)
c.10819G>T (p.Ala3607Ser)
c.10744G>T (p.Ala3582Ser)
c.10444G>T (p.Ala3482Ser)
c.7708G>T (p.Ala2570Ser)
c.6601G>T (p.Ala2201Ser)
c.10627G>T (p.Ala3543Ser)
c.6379G>T (p.Ala2127Ser)
c.9607G>T (p.Ala3203Ser)
8g.99854137C>ACA371785752VPS13Bc.10823C>A (p.Ala3608Asp)
n.10893C>A
c.*6505C>A (n.*6505C>A)
c.10748C>A (p.Ala3583Asp)
c.10820C>A (p.Ala3607Asp)
c.10745C>A (p.Ala3582Asp)
c.10445C>A (p.Ala3482Asp)
c.7709C>A (p.Ala2570Asp)
c.6602C>A (p.Ala2201Asp)
c.10628C>A (p.Ala3543Asp)
c.6380C>A (p.Ala2127Asp)
c.9608C>A (p.Ala3203Asp)
8g.99854137C>GCA371785754VPS13Bc.10823C>G (p.Ala3608Gly)
n.10893C>G
c.*6505C>G (n.*6505C>G)
c.10748C>G (p.Ala3583Gly)
c.10820C>G (p.Ala3607Gly)
c.10745C>G (p.Ala3582Gly)
c.10445C>G (p.Ala3482Gly)
c.7709C>G (p.Ala2570Gly)
c.6602C>G (p.Ala2201Gly)
c.10628C>G (p.Ala3543Gly)
c.6380C>G (p.Ala2127Gly)
c.9608C>G (p.Ala3203Gly)
8g.99854137C>TCA182314816VPS13Bc.10823C>T (p.Ala3608Val)
n.10893C>T
c.*6505C>T (n.*6505C>T)
c.10748C>T (p.Ala3583Val)
c.10820C>T (p.Ala3607Val)
c.10745C>T (p.Ala3582Val)
c.10445C>T (p.Ala3482Val)
c.7709C>T (p.Ala2570Val)
c.6602C>T (p.Ala2201Val)
c.10628C>T (p.Ala3543Val)
c.6380C>T (p.Ala2127Val)
c.9608C>T (p.Ala3203Val)
 dbSNP gnomAD v4
8g.99854138C>ACA462458352VPS13Bc.10824C>A (p.Ala3608=)
n.10894C>A
c.*6506C>A (n.*6506C>A)
c.10749C>A (p.Ala3583=)
c.10821C>A (p.Ala3607=)
c.10746C>A (p.Ala3582=)
c.10446C>A (p.Ala3482=)
c.7710C>A (p.Ala2570=)
c.6603C>A (p.Ala2201=)
c.10629C>A (p.Ala3543=)
c.6381C>A (p.Ala2127=)
c.9609C>A (p.Ala3203=)
8g.99854138C>GCA462458354VPS13Bc.10824C>G (p.Ala3608=)
n.10894C>G
c.*6506C>G (n.*6506C>G)
c.10749C>G (p.Ala3583=)
c.10821C>G (p.Ala3607=)
c.10746C>G (p.Ala3582=)
c.10446C>G (p.Ala3482=)
c.7710C>G (p.Ala2570=)
c.6603C>G (p.Ala2201=)
c.10629C>G (p.Ala3543=)
c.6381C>G (p.Ala2127=)
c.9609C>G (p.Ala3203=)
8g.99854138C>TCA462458355VPS13Bc.10824C>T (p.Ala3608=)
n.10894C>T
c.*6506C>T (n.*6506C>T)
c.10749C>T (p.Ala3583=)
c.10821C>T (p.Ala3607=)
c.10746C>T (p.Ala3582=)
c.10446C>T (p.Ala3482=)
c.7710C>T (p.Ala2570=)
c.6603C>T (p.Ala2201=)
c.10629C>T (p.Ala3543=)
c.6381C>T (p.Ala2127=)
c.9609C>T (p.Ala3203=)
 ClinVar dbSNP gnomAD v4
8g.99854139T>ACA371785766VPS13Bc.10825T>A (p.Ser3609Thr)
n.10895T>A
c.*6507T>A (n.*6507T>A)
c.10750T>A (p.Ser3584Thr)
c.10822T>A (p.Ser3608Thr)
c.10747T>A (p.Ser3583Thr)
c.10447T>A (p.Ser3483Thr)
c.7711T>A (p.Ser2571Thr)
c.6604T>A (p.Ser2202Thr)
c.10630T>A (p.Ser3544Thr)
c.6382T>A (p.Ser2128Thr)
c.9610T>A (p.Ser3204Thr)
8g.99854139T>CCA371785765VPS13Bc.10825T>C (p.Ser3609Pro)
n.10895T>C
c.*6507T>C (n.*6507T>C)
c.10750T>C (p.Ser3584Pro)
c.10822T>C (p.Ser3608Pro)
c.10747T>C (p.Ser3583Pro)
c.10447T>C (p.Ser3483Pro)
c.7711T>C (p.Ser2571Pro)
c.6604T>C (p.Ser2202Pro)
c.10630T>C (p.Ser3544Pro)
c.6382T>C (p.Ser2128Pro)
c.9610T>C (p.Ser3204Pro)
8g.99854139T>GCA371785762VPS13Bc.10825T>G (p.Ser3609Ala)
n.10895T>G
c.*6507T>G (n.*6507T>G)
c.10750T>G (p.Ser3584Ala)
c.10822T>G (p.Ser3608Ala)
c.10747T>G (p.Ser3583Ala)
c.10447T>G (p.Ser3483Ala)
c.7711T>G (p.Ser2571Ala)
c.6604T>G (p.Ser2202Ala)
c.10630T>G (p.Ser3544Ala)
c.6382T>G (p.Ser2128Ala)
c.9610T>G (p.Ser3204Ala)
8g.99854140C>ACA371785772VPS13Bc.10826C>A (p.Ser3609Ter)
n.10896C>A
c.*6508C>A (n.*6508C>A)
c.10751C>A (p.Ser3584Ter)
c.10823C>A (p.Ser3608Ter)
c.10748C>A (p.Ser3583Ter)
c.10448C>A (p.Ser3483Ter)
c.7712C>A (p.Ser2571Ter)
c.6605C>A (p.Ser2202Ter)
c.10631C>A (p.Ser3544Ter)
c.6383C>A (p.Ser2128Ter)
c.9611C>A (p.Ser3204Ter)
8g.99854140C>GCA371785775VPS13Bc.10826C>G (p.Ser3609Ter)
n.10896C>G
c.*6508C>G (n.*6508C>G)
c.10751C>G (p.Ser3584Ter)
c.10823C>G (p.Ser3608Ter)
c.10748C>G (p.Ser3583Ter)
c.10448C>G (p.Ser3483Ter)
c.7712C>G (p.Ser2571Ter)
c.6605C>G (p.Ser2202Ter)
c.10631C>G (p.Ser3544Ter)
c.6383C>G (p.Ser2128Ter)
c.9611C>G (p.Ser3204Ter)
8g.99854140C>TCA371785778VPS13Bc.10826C>T (p.Ser3609Leu)
n.10896C>T
c.*6508C>T (n.*6508C>T)
c.10751C>T (p.Ser3584Leu)
c.10823C>T (p.Ser3608Leu)
c.10748C>T (p.Ser3583Leu)
c.10448C>T (p.Ser3483Leu)
c.7712C>T (p.Ser2571Leu)
c.6605C>T (p.Ser2202Leu)
c.10631C>T (p.Ser3544Leu)
c.6383C>T (p.Ser2128Leu)
c.9611C>T (p.Ser3204Leu)
8g.99854141A>CCA462458356VPS13Bc.10827A>C (p.Ser3609=)
n.10897A>C
c.*6509A>C (n.*6509A>C)
c.10752A>C (p.Ser3584=)
c.10824A>C (p.Ser3608=)
c.10749A>C (p.Ser3583=)
c.10449A>C (p.Ser3483=)
c.7713A>C (p.Ser2571=)
c.6606A>C (p.Ser2202=)
c.10632A>C (p.Ser3544=)
c.6384A>C (p.Ser2128=)
c.9612A>C (p.Ser3204=)
8g.99854141A>GCA462458357VPS13Bc.10827A>G (p.Ser3609=)
n.10897A>G
c.*6509A>G (n.*6509A>G)
c.10752A>G (p.Ser3584=)
c.10824A>G (p.Ser3608=)
c.10749A>G (p.Ser3583=)
c.10449A>G (p.Ser3483=)
c.7713A>G (p.Ser2571=)
c.6606A>G (p.Ser2202=)
c.10632A>G (p.Ser3544=)
c.6384A>G (p.Ser2128=)
c.9612A>G (p.Ser3204=)
8g.99854141A>TCA462458359VPS13Bc.10827A>T (p.Ser3609=)
n.10897A>T
c.*6509A>T (n.*6509A>T)
c.10752A>T (p.Ser3584=)
c.10824A>T (p.Ser3608=)
c.10749A>T (p.Ser3583=)
c.10449A>T (p.Ser3483=)
c.7713A>T (p.Ser2571=)
c.6606A>T (p.Ser2202=)
c.10632A>T (p.Ser3544=)
c.6384A>T (p.Ser2128=)
c.9612A>T (p.Ser3204=)
8g.99854142G>ACA371785779VPS13Bc.10828G>A (p.Asp3610Asn)
n.10898G>A
c.*6510G>A (n.*6510G>A)
c.10753G>A (p.Asp3585Asn)
c.10825G>A (p.Asp3609Asn)
c.10750G>A (p.Asp3584Asn)
c.10450G>A (p.Asp3484Asn)
c.7714G>A (p.Asp2572Asn)
c.6607G>A (p.Asp2203Asn)
c.10633G>A (p.Asp3545Asn)
c.6385G>A (p.Asp2129Asn)
c.9613G>A (p.Asp3205Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99854142G>CCA371785780VPS13Bc.10828G>C (p.Asp3610His)
n.10898G>C
c.*6510G>C (n.*6510G>C)
c.10753G>C (p.Asp3585His)
c.10825G>C (p.Asp3609His)
c.10750G>C (p.Asp3584His)
c.10450G>C (p.Asp3484His)
c.7714G>C (p.Asp2572His)
c.6607G>C (p.Asp2203His)
c.10633G>C (p.Asp3545His)
c.6385G>C (p.Asp2129His)
c.9613G>C (p.Asp3205His)
8g.99854142G>TCA371785782VPS13Bc.10828G>T (p.Asp3610Tyr)
n.10898G>T
c.*6510G>T (n.*6510G>T)
c.10753G>T (p.Asp3585Tyr)
c.10825G>T (p.Asp3609Tyr)
c.10750G>T (p.Asp3584Tyr)
c.10450G>T (p.Asp3484Tyr)
c.7714G>T (p.Asp2572Tyr)
c.6607G>T (p.Asp2203Tyr)
c.10633G>T (p.Asp3545Tyr)
c.6385G>T (p.Asp2129Tyr)
c.9613G>T (p.Asp3205Tyr)
8g.99854143A>CCA371785787VPS13Bc.10829A>C (p.Asp3610Ala)
n.10899A>C
c.*6511A>C (n.*6511A>C)
c.10754A>C (p.Asp3585Ala)
c.10826A>C (p.Asp3609Ala)
c.10751A>C (p.Asp3584Ala)
c.10451A>C (p.Asp3484Ala)
c.7715A>C (p.Asp2572Ala)
c.6608A>C (p.Asp2203Ala)
c.10634A>C (p.Asp3545Ala)
c.6386A>C (p.Asp2129Ala)
c.9614A>C (p.Asp3205Ala)
8g.99854143A>GCA371785790VPS13Bc.10829A>G (p.Asp3610Gly)
n.10899A>G
c.*6511A>G (n.*6511A>G)
c.10754A>G (p.Asp3585Gly)
c.10826A>G (p.Asp3609Gly)
c.10751A>G (p.Asp3584Gly)
c.10451A>G (p.Asp3484Gly)
c.7715A>G (p.Asp2572Gly)
c.6608A>G (p.Asp2203Gly)
c.10634A>G (p.Asp3545Gly)
c.6386A>G (p.Asp2129Gly)
c.9614A>G (p.Asp3205Gly)
8g.99854143A>TCA371785789VPS13Bc.10829A>T (p.Asp3610Val)
n.10899A>T
c.*6511A>T (n.*6511A>T)
c.10754A>T (p.Asp3585Val)
c.10826A>T (p.Asp3609Val)
c.10751A>T (p.Asp3584Val)
c.10451A>T (p.Asp3484Val)
c.7715A>T (p.Asp2572Val)
c.6608A>T (p.Asp2203Val)
c.10634A>T (p.Asp3545Val)
c.6386A>T (p.Asp2129Val)
c.9614A>T (p.Asp3205Val)
8g.99854144C>ACA371785794VPS13Bc.10830C>A (p.Asp3610Glu)
n.10900C>A
c.*6512C>A (n.*6512C>A)
c.10755C>A (p.Asp3585Glu)
c.10827C>A (p.Asp3609Glu)
c.10752C>A (p.Asp3584Glu)
c.10452C>A (p.Asp3484Glu)
c.7716C>A (p.Asp2572Glu)
c.6609C>A (p.Asp2203Glu)
c.10635C>A (p.Asp3545Glu)
c.6387C>A (p.Asp2129Glu)
c.9615C>A (p.Asp3205Glu)
8g.99854144C>GCA371785798VPS13Bc.10830C>G (p.Asp3610Glu)
n.10900C>G
c.*6512C>G (n.*6512C>G)
c.10755C>G (p.Asp3585Glu)
c.10827C>G (p.Asp3609Glu)
c.10752C>G (p.Asp3584Glu)
c.10452C>G (p.Asp3484Glu)
c.7716C>G (p.Asp2572Glu)
c.6609C>G (p.Asp2203Glu)
c.10635C>G (p.Asp3545Glu)
c.6387C>G (p.Asp2129Glu)
c.9615C>G (p.Asp3205Glu)
8g.99854144C>TCA4825010VPS13Bc.10830C>T (p.Asp3610=)
n.10900C>T
c.*6512C>T (n.*6512C>T)
c.10755C>T (p.Asp3585=)
c.10827C>T (p.Asp3609=)
c.10752C>T (p.Asp3584=)
c.10452C>T (p.Asp3484=)
c.7716C>T (p.Asp2572=)
c.6609C>T (p.Asp2203=)
c.10635C>T (p.Asp3545=)
c.6387C>T (p.Asp2129=)
c.9615C>T (p.Asp3205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854145C>ACA371785803VPS13Bc.10831C>A (p.His3611Asn)
n.10901C>A
c.*6513C>A (n.*6513C>A)
c.10756C>A (p.His3586Asn)
c.10828C>A (p.His3610Asn)
c.10753C>A (p.His3585Asn)
c.10453C>A (p.His3485Asn)
c.7717C>A (p.His2573Asn)
c.6610C>A (p.His2204Asn)
c.10636C>A (p.His3546Asn)
c.6388C>A (p.His2130Asn)
c.9616C>A (p.His3206Asn)
8g.99854145C>GCA371785806VPS13Bc.10831C>G (p.His3611Asp)
n.10901C>G
c.*6513C>G (n.*6513C>G)
c.10756C>G (p.His3586Asp)
c.10828C>G (p.His3610Asp)
c.10753C>G (p.His3585Asp)
c.10453C>G (p.His3485Asp)
c.7717C>G (p.His2573Asp)
c.6610C>G (p.His2204Asp)
c.10636C>G (p.His3546Asp)
c.6388C>G (p.His2130Asp)
c.9616C>G (p.His3206Asp)
8g.99854145C>TCA371785812VPS13Bc.10831C>T (p.His3611Tyr)
n.10901C>T
c.*6513C>T (n.*6513C>T)
c.10756C>T (p.His3586Tyr)
c.10828C>T (p.His3610Tyr)
c.10753C>T (p.His3585Tyr)
c.10453C>T (p.His3485Tyr)
c.7717C>T (p.His2573Tyr)
c.6610C>T (p.His2204Tyr)
c.10636C>T (p.His3546Tyr)
c.6388C>T (p.His2130Tyr)
c.9616C>T (p.His3206Tyr)
8g.99854148_99854149dupCA2537813790VPS13Bc.10834_10835dup (p.Pro3613LeufsTer?)
n.10904_10905dup
c.*6516_*6517dup (n.*6516_*6517dup)
c.10759_10760dup (p.Pro3588LeufsTer?)
c.10831_10832dup (p.Pro3612LeufsTer?)
c.10756_10757dup (p.Pro3587LeufsTer?)
c.10456_10457dup (p.Pro3487LeufsTer?)
c.7720_7721dup (p.Pro2575LeufsTer?)
c.6613_6614dup (p.Pro2206LeufsTer?)
c.10639_10640dup (p.Pro3548LeufsTer?)
c.6391_6392dup (p.Pro2132LeufsTer?)
c.9619_9620dup (p.Pro3208LeufsTer?)
8g.99854146A>CCA371785816VPS13Bc.10832A>C (p.His3611Pro)
n.10902A>C
c.*6514A>C (n.*6514A>C)
c.10757A>C (p.His3586Pro)
c.10829A>C (p.His3610Pro)
c.10754A>C (p.His3585Pro)
c.10454A>C (p.His3485Pro)
c.7718A>C (p.His2573Pro)
c.6611A>C (p.His2204Pro)
c.10637A>C (p.His3546Pro)
c.6389A>C (p.His2130Pro)
c.9617A>C (p.His3206Pro)
8g.99854146A>GCA371785817VPS13Bc.10832A>G (p.His3611Arg)
n.10902A>G
c.*6514A>G (n.*6514A>G)
c.10757A>G (p.His3586Arg)
c.10829A>G (p.His3610Arg)
c.10754A>G (p.His3585Arg)
c.10454A>G (p.His3485Arg)
c.7718A>G (p.His2573Arg)
c.6611A>G (p.His2204Arg)
c.10637A>G (p.His3546Arg)
c.6389A>G (p.His2130Arg)
c.9617A>G (p.His3206Arg)
8g.99854146A>TCA371785818VPS13Bc.10832A>T (p.His3611Leu)
n.10902A>T
c.*6514A>T (n.*6514A>T)
c.10757A>T (p.His3586Leu)
c.10829A>T (p.His3610Leu)
c.10754A>T (p.His3585Leu)
c.10454A>T (p.His3485Leu)
c.7718A>T (p.His2573Leu)
c.6611A>T (p.His2204Leu)
c.10637A>T (p.His3546Leu)
c.6389A>T (p.His2130Leu)
c.9617A>T (p.His3206Leu)
8g.99854147C>ACA371785821VPS13Bc.10833C>A (p.His3611Gln)
n.10903C>A
c.*6515C>A (n.*6515C>A)
c.10758C>A (p.His3586Gln)
c.10830C>A (p.His3610Gln)
c.10755C>A (p.His3585Gln)
c.10455C>A (p.His3485Gln)
c.7719C>A (p.His2573Gln)
c.6612C>A (p.His2204Gln)
c.10638C>A (p.His3546Gln)
c.6390C>A (p.His2130Gln)
c.9618C>A (p.His3206Gln)
8g.99854147C>GCA371785824VPS13Bc.10833C>G (p.His3611Gln)
n.10903C>G
c.*6515C>G (n.*6515C>G)
c.10758C>G (p.His3586Gln)
c.10830C>G (p.His3610Gln)
c.10755C>G (p.His3585Gln)
c.10455C>G (p.His3485Gln)
c.7719C>G (p.His2573Gln)
c.6612C>G (p.His2204Gln)
c.10638C>G (p.His3546Gln)
c.6390C>G (p.His2130Gln)
c.9618C>G (p.His3206Gln)
8g.99854147C>TCA462458363VPS13Bc.10833C>T (p.His3611=)
n.10903C>T
c.*6515C>T (n.*6515C>T)
c.10758C>T (p.His3586=)
c.10830C>T (p.His3610=)
c.10755C>T (p.His3585=)
c.10455C>T (p.His3485=)
c.7719C>T (p.His2573=)
c.6612C>T (p.His2204=)
c.10638C>T (p.His3546=)
c.6390C>T (p.His2130=)
c.9618C>T (p.His3206=)
8g.99854148A>CCA371785838VPS13Bc.10834A>C (p.Thr3612Pro)
n.10904A>C
c.*6516A>C (n.*6516A>C)
c.10759A>C (p.Thr3587Pro)
c.10831A>C (p.Thr3611Pro)
c.10756A>C (p.Thr3586Pro)
c.10456A>C (p.Thr3486Pro)
c.7720A>C (p.Thr2574Pro)
c.6613A>C (p.Thr2205Pro)
c.10639A>C (p.Thr3547Pro)
c.6391A>C (p.Thr2131Pro)
c.9619A>C (p.Thr3207Pro)
8g.99854148A>GCA371785836VPS13Bc.10834A>G (p.Thr3612Ala)
n.10904A>G
c.*6516A>G (n.*6516A>G)
c.10759A>G (p.Thr3587Ala)
c.10831A>G (p.Thr3611Ala)
c.10756A>G (p.Thr3586Ala)
c.10456A>G (p.Thr3486Ala)
c.7720A>G (p.Thr2574Ala)
c.6613A>G (p.Thr2205Ala)
c.10639A>G (p.Thr3547Ala)
c.6391A>G (p.Thr2131Ala)
c.9619A>G (p.Thr3207Ala)
8g.99854148A>TCA371785832VPS13Bc.10834A>T (p.Thr3612Ser)
n.10904A>T
c.*6516A>T (n.*6516A>T)
c.10759A>T (p.Thr3587Ser)
c.10831A>T (p.Thr3611Ser)
c.10756A>T (p.Thr3586Ser)
c.10456A>T (p.Thr3486Ser)
c.7720A>T (p.Thr2574Ser)
c.6613A>T (p.Thr2205Ser)
c.10639A>T (p.Thr3547Ser)
c.6391A>T (p.Thr2131Ser)
c.9619A>T (p.Thr3207Ser)
8g.99854149C>ACA371785842VPS13Bc.10835C>A (p.Thr3612Asn)
n.10905C>A
c.*6517C>A (n.*6517C>A)
c.10760C>A (p.Thr3587Asn)
c.10832C>A (p.Thr3611Asn)
c.10757C>A (p.Thr3586Asn)
c.10457C>A (p.Thr3486Asn)
c.7721C>A (p.Thr2574Asn)
c.6614C>A (p.Thr2205Asn)
c.10640C>A (p.Thr3547Asn)
c.6392C>A (p.Thr2131Asn)
c.9620C>A (p.Thr3207Asn)
8g.99854149C>GCA371785852VPS13Bc.10835C>G (p.Thr3612Ser)
n.10905C>G
c.*6517C>G (n.*6517C>G)
c.10760C>G (p.Thr3587Ser)
c.10832C>G (p.Thr3611Ser)
c.10757C>G (p.Thr3586Ser)
c.10457C>G (p.Thr3486Ser)
c.7721C>G (p.Thr2574Ser)
c.6614C>G (p.Thr2205Ser)
c.10640C>G (p.Thr3547Ser)
c.6392C>G (p.Thr2131Ser)
c.9620C>G (p.Thr3207Ser)
8g.99854149C>TCA371785865VPS13Bc.10835C>T (p.Thr3612Ile)
n.10905C>T
c.*6517C>T (n.*6517C>T)
c.10760C>T (p.Thr3587Ile)
c.10832C>T (p.Thr3611Ile)
c.10757C>T (p.Thr3586Ile)
c.10457C>T (p.Thr3486Ile)
c.7721C>T (p.Thr2574Ile)
c.6614C>T (p.Thr2205Ile)
c.10640C>T (p.Thr3547Ile)
c.6392C>T (p.Thr2131Ile)
c.9620C>T (p.Thr3207Ile)
 dbSNP
8g.99854150T>ACA462458366VPS13Bc.10836T>A (p.Thr3612=)
n.10906T>A
c.*6518T>A (n.*6518T>A)
c.10761T>A (p.Thr3587=)
c.10833T>A (p.Thr3611=)
c.10758T>A (p.Thr3586=)
c.10458T>A (p.Thr3486=)
c.7722T>A (p.Thr2574=)
c.6615T>A (p.Thr2205=)
c.10641T>A (p.Thr3547=)
c.6393T>A (p.Thr2131=)
c.9621T>A (p.Thr3207=)
8g.99854150T>CCA462458367VPS13Bc.10836T>C (p.Thr3612=)
n.10906T>C
c.*6518T>C (n.*6518T>C)
c.10761T>C (p.Thr3587=)
c.10833T>C (p.Thr3611=)
c.10758T>C (p.Thr3586=)
c.10458T>C (p.Thr3486=)
c.7722T>C (p.Thr2574=)
c.6615T>C (p.Thr2205=)
c.10641T>C (p.Thr3547=)
c.6393T>C (p.Thr2131=)
c.9621T>C (p.Thr3207=)
 ClinVar
8g.99854150T>GCA462458368VPS13Bc.10836T>G (p.Thr3612=)
n.10906T>G
c.*6518T>G (n.*6518T>G)
c.10761T>G (p.Thr3587=)
c.10833T>G (p.Thr3611=)
c.10758T>G (p.Thr3586=)
c.10458T>G (p.Thr3486=)
c.7722T>G (p.Thr2574=)
c.6615T>G (p.Thr2205=)
c.10641T>G (p.Thr3547=)
c.6393T>G (p.Thr2131=)
c.9621T>G (p.Thr3207=)
8g.99854151C>ACA371785868VPS13Bc.10837C>A (p.Pro3613Thr)
n.10907C>A
c.*6519C>A (n.*6519C>A)
c.10762C>A (p.Pro3588Thr)
c.10834C>A (p.Pro3612Thr)
c.10759C>A (p.Pro3587Thr)
c.10459C>A (p.Pro3487Thr)
c.7723C>A (p.Pro2575Thr)
c.6616C>A (p.Pro2206Thr)
c.10642C>A (p.Pro3548Thr)
c.6394C>A (p.Pro2132Thr)
c.9622C>A (p.Pro3208Thr)
8g.99854151C>GCA371785870VPS13Bc.10837C>G (p.Pro3613Ala)
n.10907C>G
c.*6519C>G (n.*6519C>G)
c.10762C>G (p.Pro3588Ala)
c.10834C>G (p.Pro3612Ala)
c.10759C>G (p.Pro3587Ala)
c.10459C>G (p.Pro3487Ala)
c.7723C>G (p.Pro2575Ala)
c.6616C>G (p.Pro2206Ala)
c.10642C>G (p.Pro3548Ala)
c.6394C>G (p.Pro2132Ala)
c.9622C>G (p.Pro3208Ala)
8g.99854151C>TCA371785875VPS13Bc.10837C>T (p.Pro3613Ser)
n.10907C>T
c.*6519C>T (n.*6519C>T)
c.10762C>T (p.Pro3588Ser)
c.10834C>T (p.Pro3612Ser)
c.10759C>T (p.Pro3587Ser)
c.10459C>T (p.Pro3487Ser)
c.7723C>T (p.Pro2575Ser)
c.6616C>T (p.Pro2206Ser)
c.10642C>T (p.Pro3548Ser)
c.6394C>T (p.Pro2132Ser)
c.9622C>T (p.Pro3208Ser)
 gnomAD v4
8g.99854152C>ACA371785881VPS13Bc.10838C>A (p.Pro3613His)
n.10908C>A
c.*6520C>A (n.*6520C>A)
c.10763C>A (p.Pro3588His)
c.10835C>A (p.Pro3612His)
c.10760C>A (p.Pro3587His)
c.10460C>A (p.Pro3487His)
c.7724C>A (p.Pro2575His)
c.6617C>A (p.Pro2206His)
c.10643C>A (p.Pro3548His)
c.6395C>A (p.Pro2132His)
c.9623C>A (p.Pro3208His)
8g.99854152C>GCA371785886VPS13Bc.10838C>G (p.Pro3613Arg)
n.10908C>G
c.*6520C>G (n.*6520C>G)
c.10763C>G (p.Pro3588Arg)
c.10835C>G (p.Pro3612Arg)
c.10760C>G (p.Pro3587Arg)
c.10460C>G (p.Pro3487Arg)
c.7724C>G (p.Pro2575Arg)
c.6617C>G (p.Pro2206Arg)
c.10643C>G (p.Pro3548Arg)
c.6395C>G (p.Pro2132Arg)
c.9623C>G (p.Pro3208Arg)
 ClinVar gnomAD v4
8g.99854152C>TCA371785888VPS13Bc.10838C>T (p.Pro3613Leu)
n.10908C>T
c.*6520C>T (n.*6520C>T)
c.10763C>T (p.Pro3588Leu)
c.10835C>T (p.Pro3612Leu)
c.10760C>T (p.Pro3587Leu)
c.10460C>T (p.Pro3487Leu)
c.7724C>T (p.Pro2575Leu)
c.6617C>T (p.Pro2206Leu)
c.10643C>T (p.Pro3548Leu)
c.6395C>T (p.Pro2132Leu)
c.9623C>T (p.Pro3208Leu)
8g.99854155_99854158delCA263995VPS13Bc.10841_10844del (p.Leu3614ProfsTer?)
n.10911_10914del
c.*6523_*6526del (n.*6523_*6526del)
c.10766_10769del (p.Leu3589ProfsTer?)
c.10838_10841del (p.Leu3613ProfsTer?)
c.10763_10766del (p.Leu3588ProfsTer?)
c.10463_10466del (p.Leu3488ProfsTer?)
c.7727_7730del (p.Leu2576ProfsTer?)
c.6620_6623del (p.Leu2207ProfsTer?)
c.10646_10649del (p.Leu3549ProfsTer?)
c.6398_6401del (p.Leu2133ProfsTer?)
c.9626_9629del (p.Leu3209ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854153T>ACA462458373VPS13Bc.10839T>A (p.Pro3613=)
n.10909T>A
c.*6521T>A (n.*6521T>A)
c.10764T>A (p.Pro3588=)
c.10836T>A (p.Pro3612=)
c.10761T>A (p.Pro3587=)
c.10461T>A (p.Pro3487=)
c.7725T>A (p.Pro2575=)
c.6618T>A (p.Pro2206=)
c.10644T>A (p.Pro3548=)
c.6396T>A (p.Pro2132=)
c.9624T>A (p.Pro3208=)
8g.99854153T>CCA462458374VPS13Bc.10839T>C (p.Pro3613=)
n.10909T>C
c.*6521T>C (n.*6521T>C)
c.10764T>C (p.Pro3588=)
c.10836T>C (p.Pro3612=)
c.10761T>C (p.Pro3587=)
c.10461T>C (p.Pro3487=)
c.7725T>C (p.Pro2575=)
c.6618T>C (p.Pro2206=)
c.10644T>C (p.Pro3548=)
c.6396T>C (p.Pro2132=)
c.9624T>C (p.Pro3208=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99854153T>GCA462458375VPS13Bc.10839T>G (p.Pro3613=)
n.10909T>G
c.*6521T>G (n.*6521T>G)
c.10764T>G (p.Pro3588=)
c.10836T>G (p.Pro3612=)
c.10761T>G (p.Pro3587=)
c.10461T>G (p.Pro3487=)
c.7725T>G (p.Pro2575=)
c.6618T>G (p.Pro2206=)
c.10644T>G (p.Pro3548=)
c.6396T>G (p.Pro2132=)
c.9624T>G (p.Pro3208=)
 ClinVar dbSNP
8g.99854154C>ACA371785902VPS13Bc.10840C>A (p.Leu3614Ile)
n.10910C>A
c.*6522C>A (n.*6522C>A)
c.10765C>A (p.Leu3589Ile)
c.10837C>A (p.Leu3613Ile)
c.10762C>A (p.Leu3588Ile)
c.10462C>A (p.Leu3488Ile)
c.7726C>A (p.Leu2576Ile)
c.6619C>A (p.Leu2207Ile)
c.10645C>A (p.Leu3549Ile)
c.6397C>A (p.Leu2133Ile)
c.9625C>A (p.Leu3209Ile)
8g.99854154C>GCA182314839VPS13Bc.10840C>G (p.Leu3614Val)
n.10910C>G
c.*6522C>G (n.*6522C>G)
c.10765C>G (p.Leu3589Val)
c.10837C>G (p.Leu3613Val)
c.10762C>G (p.Leu3588Val)
c.10462C>G (p.Leu3488Val)
c.7726C>G (p.Leu2576Val)
c.6619C>G (p.Leu2207Val)
c.10645C>G (p.Leu3549Val)
c.6397C>G (p.Leu2133Val)
c.9625C>G (p.Leu3209Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99854154C>TCA182314845VPS13Bc.10840C>T (p.Leu3614Phe)
n.10910C>T
c.*6522C>T (n.*6522C>T)
c.10765C>T (p.Leu3589Phe)
c.10837C>T (p.Leu3613Phe)
c.10762C>T (p.Leu3588Phe)
c.10462C>T (p.Leu3488Phe)
c.7726C>T (p.Leu2576Phe)
c.6619C>T (p.Leu2207Phe)
c.10645C>T (p.Leu3549Phe)
c.6397C>T (p.Leu2133Phe)
c.9625C>T (p.Leu3209Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99854155T>ACA371785912VPS13Bc.10841T>A (p.Leu3614His)
n.10911T>A
c.*6523T>A (n.*6523T>A)
c.10766T>A (p.Leu3589His)
c.10838T>A (p.Leu3613His)
c.10763T>A (p.Leu3588His)
c.10463T>A (p.Leu3488His)
c.7727T>A (p.Leu2576His)
c.6620T>A (p.Leu2207His)
c.10646T>A (p.Leu3549His)
c.6398T>A (p.Leu2133His)
c.9626T>A (p.Leu3209His)
8g.99854155T>CCA371785906VPS13Bc.10841T>C (p.Leu3614Pro)
n.10911T>C
c.*6523T>C (n.*6523T>C)
c.10766T>C (p.Leu3589Pro)
c.10838T>C (p.Leu3613Pro)
c.10763T>C (p.Leu3588Pro)
c.10463T>C (p.Leu3488Pro)
c.7727T>C (p.Leu2576Pro)
c.6620T>C (p.Leu2207Pro)
c.10646T>C (p.Leu3549Pro)
c.6398T>C (p.Leu2133Pro)
c.9626T>C (p.Leu3209Pro)
8g.99854155T>GCA371785910VPS13Bc.10841T>G (p.Leu3614Arg)
n.10911T>G
c.*6523T>G (n.*6523T>G)
c.10766T>G (p.Leu3589Arg)
c.10838T>G (p.Leu3613Arg)
c.10763T>G (p.Leu3588Arg)
c.10463T>G (p.Leu3488Arg)
c.7727T>G (p.Leu2576Arg)
c.6620T>G (p.Leu2207Arg)
c.10646T>G (p.Leu3549Arg)
c.6398T>G (p.Leu2133Arg)
c.9626T>G (p.Leu3209Arg)
8g.99854156C>ACA462458378VPS13Bc.10842C>A (p.Leu3614=)
n.10912C>A
c.*6524C>A (n.*6524C>A)
c.10767C>A (p.Leu3589=)
c.10839C>A (p.Leu3613=)
c.10764C>A (p.Leu3588=)
c.10464C>A (p.Leu3488=)
c.7728C>A (p.Leu2576=)
c.6621C>A (p.Leu2207=)
c.10647C>A (p.Leu3549=)
c.6399C>A (p.Leu2133=)
c.9627C>A (p.Leu3209=)
8g.99854156C>GCA462458380VPS13Bc.10842C>G (p.Leu3614=)
n.10912C>G
c.*6524C>G (n.*6524C>G)
c.10767C>G (p.Leu3589=)
c.10839C>G (p.Leu3613=)
c.10764C>G (p.Leu3588=)
c.10464C>G (p.Leu3488=)
c.7728C>G (p.Leu2576=)
c.6621C>G (p.Leu2207=)
c.10647C>G (p.Leu3549=)
c.6399C>G (p.Leu2133=)
c.9627C>G (p.Leu3209=)
8g.99854156C>TCA462458381VPS13Bc.10842C>T (p.Leu3614=)
n.10912C>T
c.*6524C>T (n.*6524C>T)
c.10767C>T (p.Leu3589=)
c.10839C>T (p.Leu3613=)
c.10764C>T (p.Leu3588=)
c.10464C>T (p.Leu3488=)
c.7728C>T (p.Leu2576=)
c.6621C>T (p.Leu2207=)
c.10647C>T (p.Leu3549=)
c.6399C>T (p.Leu2133=)
c.9627C>T (p.Leu3209=)
8g.99854157T>ACA371785913VPS13Bc.10843T>A (p.Ser3615Thr)
n.10913T>A
c.*6525T>A (n.*6525T>A)
c.10768T>A (p.Ser3590Thr)
c.10840T>A (p.Ser3614Thr)
c.10765T>A (p.Ser3589Thr)
c.10465T>A (p.Ser3489Thr)
c.7729T>A (p.Ser2577Thr)
c.6622T>A (p.Ser2208Thr)
c.10648T>A (p.Ser3550Thr)
c.6400T>A (p.Ser2134Thr)
c.9628T>A (p.Ser3210Thr)
8g.99854157T>CCA371785914VPS13Bc.10843T>C (p.Ser3615Pro)
n.10913T>C
c.*6525T>C (n.*6525T>C)
c.10768T>C (p.Ser3590Pro)
c.10840T>C (p.Ser3614Pro)
c.10765T>C (p.Ser3589Pro)
c.10465T>C (p.Ser3489Pro)
c.7729T>C (p.Ser2577Pro)
c.6622T>C (p.Ser2208Pro)
c.10648T>C (p.Ser3550Pro)
c.6400T>C (p.Ser2134Pro)
c.9628T>C (p.Ser3210Pro)
8g.99854157T>GCA371785915VPS13Bc.10843T>G (p.Ser3615Ala)
n.10913T>G
c.*6525T>G (n.*6525T>G)
c.10768T>G (p.Ser3590Ala)
c.10840T>G (p.Ser3614Ala)
c.10765T>G (p.Ser3589Ala)
c.10465T>G (p.Ser3489Ala)
c.7729T>G (p.Ser2577Ala)
c.6622T>G (p.Ser2208Ala)
c.10648T>G (p.Ser3550Ala)
c.6400T>G (p.Ser2134Ala)
c.9628T>G (p.Ser3210Ala)
8g.99854158C>ACA371785922VPS13Bc.10844C>A (p.Ser3615Tyr)
n.10914C>A
c.*6526C>A (n.*6526C>A)
c.10769C>A (p.Ser3590Tyr)
c.10841C>A (p.Ser3614Tyr)
c.10766C>A (p.Ser3589Tyr)
c.10466C>A (p.Ser3489Tyr)
c.7730C>A (p.Ser2577Tyr)
c.6623C>A (p.Ser2208Tyr)
c.10649C>A (p.Ser3550Tyr)
c.6401C>A (p.Ser2134Tyr)
c.9629C>A (p.Ser3210Tyr)
8g.99854158C>GCA371785926VPS13Bc.10844C>G (p.Ser3615Cys)
n.10914C>G
c.*6526C>G (n.*6526C>G)
c.10769C>G (p.Ser3590Cys)
c.10841C>G (p.Ser3614Cys)
c.10766C>G (p.Ser3589Cys)
c.10466C>G (p.Ser3489Cys)
c.7730C>G (p.Ser2577Cys)
c.6623C>G (p.Ser2208Cys)
c.10649C>G (p.Ser3550Cys)
c.6401C>G (p.Ser2134Cys)
c.9629C>G (p.Ser3210Cys)
 COSMIC COSMIC
8g.99854158C>TCA371785932VPS13Bc.10844C>T (p.Ser3615Phe)
n.10914C>T
c.*6526C>T (n.*6526C>T)
c.10769C>T (p.Ser3590Phe)
c.10841C>T (p.Ser3614Phe)
c.10766C>T (p.Ser3589Phe)
c.10466C>T (p.Ser3489Phe)
c.7730C>T (p.Ser2577Phe)
c.6623C>T (p.Ser2208Phe)
c.10649C>T (p.Ser3550Phe)
c.6401C>T (p.Ser2134Phe)
c.9629C>T (p.Ser3210Phe)
8g.99854159C>ACA462458383VPS13Bc.10845C>A (p.Ser3615=)
n.10915C>A
c.*6527C>A (n.*6527C>A)
c.10770C>A (p.Ser3590=)
c.10842C>A (p.Ser3614=)
c.10767C>A (p.Ser3589=)
c.10467C>A (p.Ser3489=)
c.7731C>A (p.Ser2577=)
c.6624C>A (p.Ser2208=)
c.10650C>A (p.Ser3550=)
c.6402C>A (p.Ser2134=)
c.9630C>A (p.Ser3210=)
8g.99854159C>GCA462458384VPS13Bc.10845C>G (p.Ser3615=)
n.10915C>G
c.*6527C>G (n.*6527C>G)
c.10770C>G (p.Ser3590=)
c.10842C>G (p.Ser3614=)
c.10767C>G (p.Ser3589=)
c.10467C>G (p.Ser3489=)
c.7731C>G (p.Ser2577=)
c.6624C>G (p.Ser2208=)
c.10650C>G (p.Ser3550=)
c.6402C>G (p.Ser2134=)
c.9630C>G (p.Ser3210=)
8g.99854159C>TCA462458385VPS13Bc.10845C>T (p.Ser3615=)
n.10915C>T
c.*6527C>T (n.*6527C>T)
c.10770C>T (p.Ser3590=)
c.10842C>T (p.Ser3614=)
c.10767C>T (p.Ser3589=)
c.10467C>T (p.Ser3489=)
c.7731C>T (p.Ser2577=)
c.6624C>T (p.Ser2208=)
c.10650C>T (p.Ser3550=)
c.6402C>T (p.Ser2134=)
c.9630C>T (p.Ser3210=)
 ClinVar gnomAD v4
8g.99854161_99854163delCA658821916VPS13Bc.10847_10849del (p.Phe3616del)
n.10917_10919del
c.*6529_*6531del (n.*6529_*6531del)
c.10772_10774del (p.Phe3591del)
c.10844_10846del (p.Phe3615del)
c.10769_10771del (p.Phe3590del)
c.10469_10471del (p.Phe3490del)
c.7733_7735del (p.Phe2578del)
c.6626_6628del (p.Phe2209del)
c.10652_10654del (p.Phe3551del)
c.6404_6406del (p.Phe2135del)
c.9632_9634del (p.Phe3211del)
 ClinVar dbSNP gnomAD v4
8g.99854160T>ACA371785934VPS13Bc.10846T>A (p.Phe3616Ile)
n.10916T>A
c.*6528T>A (n.*6528T>A)
c.10771T>A (p.Phe3591Ile)
c.10843T>A (p.Phe3615Ile)
c.10768T>A (p.Phe3590Ile)
c.10468T>A (p.Phe3490Ile)
c.7732T>A (p.Phe2578Ile)
c.6625T>A (p.Phe2209Ile)
c.10651T>A (p.Phe3551Ile)
c.6403T>A (p.Phe2135Ile)
c.9631T>A (p.Phe3211Ile)
8g.99854160T>CCA371785935VPS13Bc.10846T>C (p.Phe3616Leu)
n.10916T>C
c.*6528T>C (n.*6528T>C)
c.10771T>C (p.Phe3591Leu)
c.10843T>C (p.Phe3615Leu)
c.10768T>C (p.Phe3590Leu)
c.10468T>C (p.Phe3490Leu)
c.7732T>C (p.Phe2578Leu)
c.6625T>C (p.Phe2209Leu)
c.10651T>C (p.Phe3551Leu)
c.6403T>C (p.Phe2135Leu)
c.9631T>C (p.Phe3211Leu)
8g.99854160T>GCA371785936VPS13Bc.10846T>G (p.Phe3616Val)
n.10916T>G
c.*6528T>G (n.*6528T>G)
c.10771T>G (p.Phe3591Val)
c.10843T>G (p.Phe3615Val)
c.10768T>G (p.Phe3590Val)
c.10468T>G (p.Phe3490Val)
c.7732T>G (p.Phe2578Val)
c.6625T>G (p.Phe2209Val)
c.10651T>G (p.Phe3551Val)
c.6403T>G (p.Phe2135Val)
c.9631T>G (p.Phe3211Val)
8g.99854161T>ACA371785938VPS13Bc.10847T>A (p.Phe3616Tyr)
n.10917T>A
c.*6529T>A (n.*6529T>A)
c.10772T>A (p.Phe3591Tyr)
c.10844T>A (p.Phe3615Tyr)
c.10769T>A (p.Phe3590Tyr)
c.10469T>A (p.Phe3490Tyr)
c.7733T>A (p.Phe2578Tyr)
c.6626T>A (p.Phe2209Tyr)
c.10652T>A (p.Phe3551Tyr)
c.6404T>A (p.Phe2135Tyr)
c.9632T>A (p.Phe3211Tyr)
8g.99854161T>CCA371785945VPS13Bc.10847T>C (p.Phe3616Ser)
n.10917T>C
c.*6529T>C (n.*6529T>C)
c.10772T>C (p.Phe3591Ser)
c.10844T>C (p.Phe3615Ser)
c.10769T>C (p.Phe3590Ser)
c.10469T>C (p.Phe3490Ser)
c.7733T>C (p.Phe2578Ser)
c.6626T>C (p.Phe2209Ser)
c.10652T>C (p.Phe3551Ser)
c.6404T>C (p.Phe2135Ser)
c.9632T>C (p.Phe3211Ser)
8g.99854161T>GCA371785948VPS13Bc.10847T>G (p.Phe3616Cys)
n.10917T>G
c.*6529T>G (n.*6529T>G)
c.10772T>G (p.Phe3591Cys)
c.10844T>G (p.Phe3615Cys)
c.10769T>G (p.Phe3590Cys)
c.10469T>G (p.Phe3490Cys)
c.7733T>G (p.Phe2578Cys)
c.6626T>G (p.Phe2209Cys)
c.10652T>G (p.Phe3551Cys)
c.6404T>G (p.Phe2135Cys)
c.9632T>G (p.Phe3211Cys)
8g.99854162C>ACA371785949VPS13Bc.10848C>A (p.Phe3616Leu)
n.10918C>A
c.*6530C>A (n.*6530C>A)
c.10773C>A (p.Phe3591Leu)
c.10845C>A (p.Phe3615Leu)
c.10770C>A (p.Phe3590Leu)
c.10470C>A (p.Phe3490Leu)
c.7734C>A (p.Phe2578Leu)
c.6627C>A (p.Phe2209Leu)
c.10653C>A (p.Phe3551Leu)
c.6405C>A (p.Phe2135Leu)
c.9633C>A (p.Phe3211Leu)
8g.99854162C>GCA371785951VPS13Bc.10848C>G (p.Phe3616Leu)
n.10918C>G
c.*6530C>G (n.*6530C>G)
c.10773C>G (p.Phe3591Leu)
c.10845C>G (p.Phe3615Leu)
c.10770C>G (p.Phe3590Leu)
c.10470C>G (p.Phe3490Leu)
c.7734C>G (p.Phe2578Leu)
c.6627C>G (p.Phe2209Leu)
c.10653C>G (p.Phe3551Leu)
c.6405C>G (p.Phe2135Leu)
c.9633C>G (p.Phe3211Leu)
8g.99854162C>TCA462458387VPS13Bc.10848C>T (p.Phe3616=)
n.10918C>T
c.*6530C>T (n.*6530C>T)
c.10773C>T (p.Phe3591=)
c.10845C>T (p.Phe3615=)
c.10770C>T (p.Phe3590=)
c.10470C>T (p.Phe3490=)
c.7734C>T (p.Phe2578=)
c.6627C>T (p.Phe2209=)
c.10653C>T (p.Phe3551=)
c.6405C>T (p.Phe2135=)
c.9633C>T (p.Phe3211=)
8g.99854163T>ACA371785960VPS13Bc.10849T>A (p.Ser3617Thr)
n.10919T>A
c.*6531T>A (n.*6531T>A)
c.10774T>A (p.Ser3592Thr)
c.10846T>A (p.Ser3616Thr)
c.10771T>A (p.Ser3591Thr)
c.10471T>A (p.Ser3491Thr)
c.7735T>A (p.Ser2579Thr)
c.6628T>A (p.Ser2210Thr)
c.10654T>A (p.Ser3552Thr)
c.6406T>A (p.Ser2136Thr)
c.9634T>A (p.Ser3212Thr)
8g.99854163T>CCA371785963VPS13Bc.10849T>C (p.Ser3617Pro)
n.10919T>C
c.*6531T>C (n.*6531T>C)
c.10774T>C (p.Ser3592Pro)
c.10846T>C (p.Ser3616Pro)
c.10771T>C (p.Ser3591Pro)
c.10471T>C (p.Ser3491Pro)
c.7735T>C (p.Ser2579Pro)
c.6628T>C (p.Ser2210Pro)
c.10654T>C (p.Ser3552Pro)
c.6406T>C (p.Ser2136Pro)
c.9634T>C (p.Ser3212Pro)
8g.99854163T>GCA371785962VPS13Bc.10849T>G (p.Ser3617Ala)
n.10919T>G
c.*6531T>G (n.*6531T>G)
c.10774T>G (p.Ser3592Ala)
c.10846T>G (p.Ser3616Ala)
c.10771T>G (p.Ser3591Ala)
c.10471T>G (p.Ser3491Ala)
c.7735T>G (p.Ser2579Ala)
c.6628T>G (p.Ser2210Ala)
c.10654T>G (p.Ser3552Ala)
c.6406T>G (p.Ser2136Ala)
c.9634T>G (p.Ser3212Ala)
8g.99854164C>ACA371785965VPS13Bc.10850C>A (p.Ser3617Ter)
n.10920C>A
c.*6532C>A (n.*6532C>A)
c.10775C>A (p.Ser3592Ter)
c.10847C>A (p.Ser3616Ter)
c.10772C>A (p.Ser3591Ter)
c.10472C>A (p.Ser3491Ter)
c.7736C>A (p.Ser2579Ter)
c.6629C>A (p.Ser2210Ter)
c.10655C>A (p.Ser3552Ter)
c.6407C>A (p.Ser2136Ter)
c.9635C>A (p.Ser3212Ter)
8g.99854164C>GCA371785967VPS13Bc.10850C>G (p.Ser3617Trp)
n.10920C>G
c.*6532C>G (n.*6532C>G)
c.10775C>G (p.Ser3592Trp)
c.10847C>G (p.Ser3616Trp)
c.10772C>G (p.Ser3591Trp)
c.10472C>G (p.Ser3491Trp)
c.7736C>G (p.Ser2579Trp)
c.6629C>G (p.Ser2210Trp)
c.10655C>G (p.Ser3552Trp)
c.6407C>G (p.Ser2136Trp)
c.9635C>G (p.Ser3212Trp)
8g.99854164C>TCA371785966VPS13Bc.10850C>T (p.Ser3617Leu)
n.10920C>T
c.*6532C>T (n.*6532C>T)
c.10775C>T (p.Ser3592Leu)
c.10847C>T (p.Ser3616Leu)
c.10772C>T (p.Ser3591Leu)
c.10472C>T (p.Ser3491Leu)
c.7736C>T (p.Ser2579Leu)
c.6629C>T (p.Ser2210Leu)
c.10655C>T (p.Ser3552Leu)
c.6407C>T (p.Ser2136Leu)
c.9635C>T (p.Ser3212Leu)
 ClinVar gnomAD v4
8g.99854165G>ACA4825011VPS13Bc.10851G>A (p.Ser3617=)
n.10921G>A
c.*6533G>A (n.*6533G>A)
c.10776G>A (p.Ser3592=)
c.10848G>A (p.Ser3616=)
c.10773G>A (p.Ser3591=)
c.10473G>A (p.Ser3491=)
c.7737G>A (p.Ser2579=)
c.6630G>A (p.Ser2210=)
c.10656G>A (p.Ser3552=)
c.6408G>A (p.Ser2136=)
c.9636G>A (p.Ser3212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854165G>CCA462458388VPS13Bc.10851G>C (p.Ser3617=)
n.10921G>C
c.*6533G>C (n.*6533G>C)
c.10776G>C (p.Ser3592=)
c.10848G>C (p.Ser3616=)
c.10773G>C (p.Ser3591=)
c.10473G>C (p.Ser3491=)
c.7737G>C (p.Ser2579=)
c.6630G>C (p.Ser2210=)
c.10656G>C (p.Ser3552=)
c.6408G>C (p.Ser2136=)
c.9636G>C (p.Ser3212=)
 ClinVar dbSNP
8g.99854165G>TCA4825012VPS13Bc.10851G>T (p.Ser3617=)
n.10921G>T
c.*6533G>T (n.*6533G>T)
c.10776G>T (p.Ser3592=)
c.10848G>T (p.Ser3616=)
c.10773G>T (p.Ser3591=)
c.10473G>T (p.Ser3491=)
c.7737G>T (p.Ser2579=)
c.6630G>T (p.Ser2210=)
c.10656G>T (p.Ser3552=)
c.6408G>T (p.Ser2136=)
c.9636G>T (p.Ser3212=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854166G>ACA4825013VPS13Bc.10852G>A (p.Val3618Met)
n.10922G>A
c.*6534G>A (n.*6534G>A)
c.10777G>A (p.Val3593Met)
c.10849G>A (p.Val3617Met)
c.10774G>A (p.Val3592Met)
c.10474G>A (p.Val3492Met)
c.7738G>A (p.Val2580Met)
c.6631G>A (p.Val2211Met)
c.10657G>A (p.Val3553Met)
c.6409G>A (p.Val2137Met)
c.9637G>A (p.Val3213Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854166G>CCA371785970VPS13Bc.10852G>C (p.Val3618Leu)
n.10922G>C
c.*6534G>C (n.*6534G>C)
c.10777G>C (p.Val3593Leu)
c.10849G>C (p.Val3617Leu)
c.10774G>C (p.Val3592Leu)
c.10474G>C (p.Val3492Leu)
c.7738G>C (p.Val2580Leu)
c.6631G>C (p.Val2211Leu)
c.10657G>C (p.Val3553Leu)
c.6409G>C (p.Val2137Leu)
c.9637G>C (p.Val3213Leu)
8g.99854166G>TCA371785969VPS13Bc.10852G>T (p.Val3618Leu)
n.10922G>T
c.*6534G>T (n.*6534G>T)
c.10777G>T (p.Val3593Leu)
c.10849G>T (p.Val3617Leu)
c.10774G>T (p.Val3592Leu)
c.10474G>T (p.Val3492Leu)
c.7738G>T (p.Val2580Leu)
c.6631G>T (p.Val2211Leu)
c.10657G>T (p.Val3553Leu)
c.6409G>T (p.Val2137Leu)
c.9637G>T (p.Val3213Leu)
8g.99854167T>ACA371785971VPS13Bc.10853T>A (p.Val3618Glu)
n.10923T>A
c.*6535T>A (n.*6535T>A)
c.10778T>A (p.Val3593Glu)
c.10850T>A (p.Val3617Glu)
c.10775T>A (p.Val3592Glu)
c.10475T>A (p.Val3492Glu)
c.7739T>A (p.Val2580Glu)
c.6632T>A (p.Val2211Glu)
c.10658T>A (p.Val3553Glu)
c.6410T>A (p.Val2137Glu)
c.9638T>A (p.Val3213Glu)
8g.99854167T>CCA371785973VPS13Bc.10853T>C (p.Val3618Ala)
n.10923T>C
c.*6535T>C (n.*6535T>C)
c.10778T>C (p.Val3593Ala)
c.10850T>C (p.Val3617Ala)
c.10775T>C (p.Val3592Ala)
c.10475T>C (p.Val3492Ala)
c.7739T>C (p.Val2580Ala)
c.6632T>C (p.Val2211Ala)
c.10658T>C (p.Val3553Ala)
c.6410T>C (p.Val2137Ala)
c.9638T>C (p.Val3213Ala)
 gnomAD v4
8g.99854167T>GCA371785975VPS13Bc.10853T>G (p.Val3618Gly)
n.10923T>G
c.*6535T>G (n.*6535T>G)
c.10778T>G (p.Val3593Gly)
c.10850T>G (p.Val3617Gly)
c.10775T>G (p.Val3592Gly)
c.10475T>G (p.Val3492Gly)
c.7739T>G (p.Val2580Gly)
c.6632T>G (p.Val2211Gly)
c.10658T>G (p.Val3553Gly)
c.6410T>G (p.Val2137Gly)
c.9638T>G (p.Val3213Gly)
 ClinVar
8g.99854168G>ACA462458391VPS13Bc.10854G>A (p.Val3618=)
n.10924G>A
c.*6536G>A (n.*6536G>A)
c.10779G>A (p.Val3593=)
c.10851G>A (p.Val3617=)
c.10776G>A (p.Val3592=)
c.10476G>A (p.Val3492=)
c.7740G>A (p.Val2580=)
c.6633G>A (p.Val2211=)
c.10659G>A (p.Val3553=)
c.6411G>A (p.Val2137=)
c.9639G>A (p.Val3213=)
 ClinVar dbSNP
8g.99854168G>CCA462458389VPS13Bc.10854G>C (p.Val3618=)
n.10924G>C
c.*6536G>C (n.*6536G>C)
c.10779G>C (p.Val3593=)
c.10851G>C (p.Val3617=)
c.10776G>C (p.Val3592=)
c.10476G>C (p.Val3492=)
c.7740G>C (p.Val2580=)
c.6633G>C (p.Val2211=)
c.10659G>C (p.Val3553=)
c.6411G>C (p.Val2137=)
c.9639G>C (p.Val3213=)
8g.99854168G>TCA462458390VPS13Bc.10854G>T (p.Val3618=)
n.10924G>T
c.*6536G>T (n.*6536G>T)
c.10779G>T (p.Val3593=)
c.10851G>T (p.Val3617=)
c.10776G>T (p.Val3592=)
c.10476G>T (p.Val3492=)
c.7740G>T (p.Val2580=)
c.6633G>T (p.Val2211=)
c.10659G>T (p.Val3553=)
c.6411G>T (p.Val2137=)
c.9639G>T (p.Val3213=)
8g.99854169T>ACA371785977VPS13Bc.10855T>A (p.Phe3619Ile)
n.10925T>A
c.*6537T>A (n.*6537T>A)
c.10780T>A (p.Phe3594Ile)
c.10852T>A (p.Phe3618Ile)
c.10777T>A (p.Phe3593Ile)
c.10477T>A (p.Phe3493Ile)
c.7741T>A (p.Phe2581Ile)
c.6634T>A (p.Phe2212Ile)
c.10660T>A (p.Phe3554Ile)
c.6412T>A (p.Phe2138Ile)
c.9640T>A (p.Phe3214Ile)
8g.99854169T>CCA371785979VPS13Bc.10855T>C (p.Phe3619Leu)
n.10925T>C
c.*6537T>C (n.*6537T>C)
c.10780T>C (p.Phe3594Leu)
c.10852T>C (p.Phe3618Leu)
c.10777T>C (p.Phe3593Leu)
c.10477T>C (p.Phe3493Leu)
c.7741T>C (p.Phe2581Leu)
c.6634T>C (p.Phe2212Leu)
c.10660T>C (p.Phe3554Leu)
c.6412T>C (p.Phe2138Leu)
c.9640T>C (p.Phe3214Leu)
8g.99854169T>GCA371785981VPS13Bc.10855T>G (p.Phe3619Val)
n.10925T>G
c.*6537T>G (n.*6537T>G)
c.10780T>G (p.Phe3594Val)
c.10852T>G (p.Phe3618Val)
c.10777T>G (p.Phe3593Val)
c.10477T>G (p.Phe3493Val)
c.7741T>G (p.Phe2581Val)
c.6634T>G (p.Phe2212Val)
c.10660T>G (p.Phe3554Val)
c.6412T>G (p.Phe2138Val)
c.9640T>G (p.Phe3214Val)
 dbSNP gnomAD v2
8g.99854170T>ACA371785983VPS13Bc.10856T>A (p.Phe3619Tyr)
n.10926T>A
c.*6538T>A (n.*6538T>A)
c.10781T>A (p.Phe3594Tyr)
c.10853T>A (p.Phe3618Tyr)
c.10778T>A (p.Phe3593Tyr)
c.10478T>A (p.Phe3493Tyr)
c.7742T>A (p.Phe2581Tyr)
c.6635T>A (p.Phe2212Tyr)
c.10661T>A (p.Phe3554Tyr)
c.6413T>A (p.Phe2138Tyr)
c.9641T>A (p.Phe3214Tyr)
8g.99854170T>CCA371785986VPS13Bc.10856T>C (p.Phe3619Ser)
n.10926T>C
c.*6538T>C (n.*6538T>C)
c.10781T>C (p.Phe3594Ser)
c.10853T>C (p.Phe3618Ser)
c.10778T>C (p.Phe3593Ser)
c.10478T>C (p.Phe3493Ser)
c.7742T>C (p.Phe2581Ser)
c.6635T>C (p.Phe2212Ser)
c.10661T>C (p.Phe3554Ser)
c.6413T>C (p.Phe2138Ser)
c.9641T>C (p.Phe3214Ser)
8g.99854170T>GCA371785990VPS13Bc.10856T>G (p.Phe3619Cys)
n.10926T>G
c.*6538T>G (n.*6538T>G)
c.10781T>G (p.Phe3594Cys)
c.10853T>G (p.Phe3618Cys)
c.10778T>G (p.Phe3593Cys)
c.10478T>G (p.Phe3493Cys)
c.7742T>G (p.Phe2581Cys)
c.6635T>G (p.Phe2212Cys)
c.10661T>G (p.Phe3554Cys)
c.6413T>G (p.Phe2138Cys)
c.9641T>G (p.Phe3214Cys)
 gnomAD v4
8g.99854171T>ACA371785993VPS13Bc.10857T>A (p.Phe3619Leu)
n.10927T>A
c.*6539T>A (n.*6539T>A)
c.10782T>A (p.Phe3594Leu)
c.10854T>A (p.Phe3618Leu)
c.10779T>A (p.Phe3593Leu)
c.10479T>A (p.Phe3493Leu)
c.7743T>A (p.Phe2581Leu)
c.6636T>A (p.Phe2212Leu)
c.10662T>A (p.Phe3554Leu)
c.6414T>A (p.Phe2138Leu)
c.9642T>A (p.Phe3214Leu)
8g.99854171T>CCA462458394VPS13Bc.10857T>C (p.Phe3619=)
n.10927T>C
c.*6539T>C (n.*6539T>C)
c.10782T>C (p.Phe3594=)
c.10854T>C (p.Phe3618=)
c.10779T>C (p.Phe3593=)
c.10479T>C (p.Phe3493=)
c.7743T>C (p.Phe2581=)
c.6636T>C (p.Phe2212=)
c.10662T>C (p.Phe3554=)
c.6414T>C (p.Phe2138=)
c.9642T>C (p.Phe3214=)
 dbSNP gnomAD v2 gnomAD v4
8g.99854171T>GCA371785995VPS13Bc.10857T>G (p.Phe3619Leu)
n.10927T>G
c.*6539T>G (n.*6539T>G)
c.10782T>G (p.Phe3594Leu)
c.10854T>G (p.Phe3618Leu)
c.10779T>G (p.Phe3593Leu)
c.10479T>G (p.Phe3493Leu)
c.7743T>G (p.Phe2581Leu)
c.6636T>G (p.Phe2212Leu)
c.10662T>G (p.Phe3554Leu)
c.6414T>G (p.Phe2138Leu)
c.9642T>G (p.Phe3214Leu)
8g.99854172G>ACA371786006VPS13Bc.10858G>A (p.Glu3620Lys)
n.10928G>A
c.*6540G>A (n.*6540G>A)
c.10783G>A (p.Glu3595Lys)
c.10855G>A (p.Glu3619Lys)
c.10780G>A (p.Glu3594Lys)
c.10480G>A (p.Glu3494Lys)
c.7744G>A (p.Glu2582Lys)
c.6637G>A (p.Glu2213Lys)
c.10663G>A (p.Glu3555Lys)
c.6415G>A (p.Glu2139Lys)
c.9643G>A (p.Glu3215Lys)
 gnomAD v4 COSMIC COSMIC
8g.99854172G>CCA371785998VPS13Bc.10858G>C (p.Glu3620Gln)
n.10928G>C
c.*6540G>C (n.*6540G>C)
c.10783G>C (p.Glu3595Gln)
c.10855G>C (p.Glu3619Gln)
c.10780G>C (p.Glu3594Gln)
c.10480G>C (p.Glu3494Gln)
c.7744G>C (p.Glu2582Gln)
c.6637G>C (p.Glu2213Gln)
c.10663G>C (p.Glu3555Gln)
c.6415G>C (p.Glu2139Gln)
c.9643G>C (p.Glu3215Gln)
8g.99854172G>TCA371786003VPS13Bc.10858G>T (p.Glu3620Ter)
n.10928G>T
c.*6540G>T (n.*6540G>T)
c.10783G>T (p.Glu3595Ter)
c.10855G>T (p.Glu3619Ter)
c.10780G>T (p.Glu3594Ter)
c.10480G>T (p.Glu3494Ter)
c.7744G>T (p.Glu2582Ter)
c.6637G>T (p.Glu2213Ter)
c.10663G>T (p.Glu3555Ter)
c.6415G>T (p.Glu2139Ter)
c.9643G>T (p.Glu3215Ter)
8g.99854172_99854173insCCGTATCATTAAAAACA583848155VPS13Bc.10858_10859insCCGTATCATTAAAAA (p.Glu3620delinsAlaValSerLeuLysLys)
n.10928_10929insCCGTATCATTAAAAA
c.*6540_*6541insCCGTATCATTAAAAA (n.*6540_*6541insCCGTATCATTAAAAA)
c.10783_10784insCCGTATCATTAAAAA (p.Glu3595delinsAlaValSerLeuLysLys)
c.10855_10856insCCGTATCATTAAAAA (p.Glu3619delinsAlaValSerLeuLysLys)
c.10780_10781insCCGTATCATTAAAAA (p.Glu3594delinsAlaValSerLeuLysLys)
c.10480_10481insCCGTATCATTAAAAA (p.Glu3494delinsAlaValSerLeuLysLys)
c.7744_7745insCCGTATCATTAAAAA (p.Glu2582delinsAlaValSerLeuLysLys)
c.6637_6638insCCGTATCATTAAAAA (p.Glu2213delinsAlaValSerLeuLysLys)
c.10663_10664insCCGTATCATTAAAAA (p.Glu3555delinsAlaValSerLeuLysLys)
c.6415_6416insCCGTATCATTAAAAA (p.Glu2139delinsAlaValSerLeuLysLys)
c.9643_9644insCCGTATCATTAAAAA (p.Glu3215delinsAlaValSerLeuLysLys)
 gnomAD v2
8g.99854172_99854173insCCGTATCATTAAAAAACA583848156VPS13Bc.10858_10859insCCGTATCATTAAAAAA (p.Glu3620AlafsTer32)
n.10928_10929insCCGTATCATTAAAAAA
c.*6540_*6541insCCGTATCATTAAAAAA (n.*6540_*6541insCCGTATCATTAAAAAA)
c.10783_10784insCCGTATCATTAAAAAA (p.Glu3595AlafsTer32)
c.10855_10856insCCGTATCATTAAAAAA (p.Glu3619AlafsTer32)
c.10780_10781insCCGTATCATTAAAAAA (p.Glu3594AlafsTer32)
c.10480_10481insCCGTATCATTAAAAAA (p.Glu3494AlafsTer32)
c.7744_7745insCCGTATCATTAAAAAA (p.Glu2582AlafsTer32)
c.6637_6638insCCGTATCATTAAAAAA (p.Glu2213AlafsTer32)
c.10663_10664insCCGTATCATTAAAAAA (p.Glu3555AlafsTer32)
c.6415_6416insCCGTATCATTAAAAAA (p.Glu2139AlafsTer32)
c.9643_9644insCCGTATCATTAAAAAA (p.Glu3215AlafsTer32)
 gnomAD v2
8g.99854173A>CCA371786009VPS13Bc.10859A>C (p.Glu3620Ala)
n.10929A>C
c.*6541A>C (n.*6541A>C)
c.10784A>C (p.Glu3595Ala)
c.10856A>C (p.Glu3619Ala)
c.10781A>C (p.Glu3594Ala)
c.10481A>C (p.Glu3494Ala)
c.7745A>C (p.Glu2582Ala)
c.6638A>C (p.Glu2213Ala)
c.10664A>C (p.Glu3555Ala)
c.6416A>C (p.Glu2139Ala)
c.9644A>C (p.Glu3215Ala)
8g.99854173A>GCA371786011VPS13Bc.10859A>G (p.Glu3620Gly)
n.10929A>G
c.*6541A>G (n.*6541A>G)
c.10784A>G (p.Glu3595Gly)
c.10856A>G (p.Glu3619Gly)
c.10781A>G (p.Glu3594Gly)
c.10481A>G (p.Glu3494Gly)
c.7745A>G (p.Glu2582Gly)
c.6638A>G (p.Glu2213Gly)
c.10664A>G (p.Glu3555Gly)
c.6416A>G (p.Glu2139Gly)
c.9644A>G (p.Glu3215Gly)
8g.99854173A>TCA371786027VPS13Bc.10859A>T (p.Glu3620Val)
n.10929A>T
c.*6541A>T (n.*6541A>T)
c.10784A>T (p.Glu3595Val)
c.10856A>T (p.Glu3619Val)
c.10781A>T (p.Glu3594Val)
c.10481A>T (p.Glu3494Val)
c.7745A>T (p.Glu2582Val)
c.6638A>T (p.Glu2213Val)
c.10664A>T (p.Glu3555Val)
c.6416A>T (p.Glu2139Val)
c.9644A>T (p.Glu3215Val)
8g.99854174A>CCA371786031VPS13Bc.10860A>C (p.Glu3620Asp)
n.10930A>C
c.*6542A>C (n.*6542A>C)
c.10785A>C (p.Glu3595Asp)
c.10857A>C (p.Glu3619Asp)
c.10782A>C (p.Glu3594Asp)
c.10482A>C (p.Glu3494Asp)
c.7746A>C (p.Glu2582Asp)
c.6639A>C (p.Glu2213Asp)
c.10665A>C (p.Glu3555Asp)
c.6417A>C (p.Glu2139Asp)
c.9645A>C (p.Glu3215Asp)
8g.99854174A>GCA462458395VPS13Bc.10860A>G (p.Glu3620=)
n.10930A>G
c.*6542A>G (n.*6542A>G)
c.10785A>G (p.Glu3595=)
c.10857A>G (p.Glu3619=)
c.10782A>G (p.Glu3594=)
c.10482A>G (p.Glu3494=)
c.7746A>G (p.Glu2582=)
c.6639A>G (p.Glu2213=)
c.10665A>G (p.Glu3555=)
c.6417A>G (p.Glu2139=)
c.9645A>G (p.Glu3215=)
8g.99854174A>TCA371786033VPS13Bc.10860A>T (p.Glu3620Asp)
n.10930A>T
c.*6542A>T (n.*6542A>T)
c.10785A>T (p.Glu3595Asp)
c.10857A>T (p.Glu3619Asp)
c.10782A>T (p.Glu3594Asp)
c.10482A>T (p.Glu3494Asp)
c.7746A>T (p.Glu2582Asp)
c.6639A>T (p.Glu2213Asp)
c.10665A>T (p.Glu3555Asp)
c.6417A>T (p.Glu2139Asp)
c.9645A>T (p.Glu3215Asp)
8g.99854175A>CCA462458396VPS13Bc.10861A>C (p.Arg3621=)
n.10931A>C
c.*6543A>C (n.*6543A>C)
c.10786A>C (p.Arg3596=)
c.10858A>C (p.Arg3620=)
c.10783A>C (p.Arg3595=)
c.10483A>C (p.Arg3495=)
c.7747A>C (p.Arg2583=)
c.6640A>C (p.Arg2214=)
c.10666A>C (p.Arg3556=)
c.6418A>C (p.Arg2140=)
c.9646A>C (p.Arg3216=)
8g.99854175A>GCA371786037VPS13Bc.10861A>G (p.Arg3621Gly)
n.10931A>G
c.*6543A>G (n.*6543A>G)
c.10786A>G (p.Arg3596Gly)
c.10858A>G (p.Arg3620Gly)
c.10783A>G (p.Arg3595Gly)
c.10483A>G (p.Arg3495Gly)
c.7747A>G (p.Arg2583Gly)
c.6640A>G (p.Arg2214Gly)
c.10666A>G (p.Arg3556Gly)
c.6418A>G (p.Arg2140Gly)
c.9646A>G (p.Arg3216Gly)
 gnomAD v4
8g.99854175A>TCA371786040VPS13Bc.10861A>T (p.Arg3621Ter)
n.10931A>T
c.*6543A>T (n.*6543A>T)
c.10786A>T (p.Arg3596Ter)
c.10858A>T (p.Arg3620Ter)
c.10783A>T (p.Arg3595Ter)
c.10483A>T (p.Arg3495Ter)
c.7747A>T (p.Arg2583Ter)
c.6640A>T (p.Arg2214Ter)
c.10666A>T (p.Arg3556Ter)
c.6418A>T (p.Arg2140Ter)
c.9646A>T (p.Arg3216Ter)
8g.99854176G>ACA371786041VPS13Bc.10862G>A (p.Arg3621Lys)
n.10932G>A
c.*6544G>A (n.*6544G>A)
c.10787G>A (p.Arg3596Lys)
c.10859G>A (p.Arg3620Lys)
c.10784G>A (p.Arg3595Lys)
c.10484G>A (p.Arg3495Lys)
c.7748G>A (p.Arg2583Lys)
c.6641G>A (p.Arg2214Lys)
c.10667G>A (p.Arg3556Lys)
c.6419G>A (p.Arg2140Lys)
c.9647G>A (p.Arg3216Lys)
 dbSNP gnomAD v4
8g.99854176G>CCA371786042VPS13Bc.10862G>C (p.Arg3621Thr)
n.10932G>C
c.*6544G>C (n.*6544G>C)
c.10787G>C (p.Arg3596Thr)
c.10859G>C (p.Arg3620Thr)
c.10784G>C (p.Arg3595Thr)
c.10484G>C (p.Arg3495Thr)
c.7748G>C (p.Arg2583Thr)
c.6641G>C (p.Arg2214Thr)
c.10667G>C (p.Arg3556Thr)
c.6419G>C (p.Arg2140Thr)
c.9647G>C (p.Arg3216Thr)
8g.99854176G>TCA371786044VPS13Bc.10862G>T (p.Arg3621Ile)
n.10932G>T
c.*6544G>T (n.*6544G>T)
c.10787G>T (p.Arg3596Ile)
c.10859G>T (p.Arg3620Ile)
c.10784G>T (p.Arg3595Ile)
c.10484G>T (p.Arg3495Ile)
c.7748G>T (p.Arg2583Ile)
c.6641G>T (p.Arg2214Ile)
c.10667G>T (p.Arg3556Ile)
c.6419G>T (p.Arg2140Ile)
c.9647G>T (p.Arg3216Ile)
 ClinVar gnomAD v4
8g.99854177A>CCA371786057VPS13Bc.10863A>C (p.Arg3621Ser)
n.10933A>C
c.*6545A>C (n.*6545A>C)
c.10788A>C (p.Arg3596Ser)
c.10860A>C (p.Arg3620Ser)
c.10785A>C (p.Arg3595Ser)
c.10485A>C (p.Arg3495Ser)
c.7749A>C (p.Arg2583Ser)
c.6642A>C (p.Arg2214Ser)
c.10668A>C (p.Arg3556Ser)
c.6420A>C (p.Arg2140Ser)
c.9648A>C (p.Arg3216Ser)
8g.99854177A>GCA462458397VPS13Bc.10863A>G (p.Arg3621=)
n.10933A>G
c.*6545A>G (n.*6545A>G)
c.10788A>G (p.Arg3596=)
c.10860A>G (p.Arg3620=)
c.10785A>G (p.Arg3595=)
c.10485A>G (p.Arg3495=)
c.7749A>G (p.Arg2583=)
c.6642A>G (p.Arg2214=)
c.10668A>G (p.Arg3556=)
c.6420A>G (p.Arg2140=)
c.9648A>G (p.Arg3216=)
8g.99854177A>TCA371786053VPS13Bc.10863A>T (p.Arg3621Ser)
n.10933A>T
c.*6545A>T (n.*6545A>T)
c.10788A>T (p.Arg3596Ser)
c.10860A>T (p.Arg3620Ser)
c.10785A>T (p.Arg3595Ser)
c.10485A>T (p.Arg3495Ser)
c.7749A>T (p.Arg2583Ser)
c.6642A>T (p.Arg2214Ser)
c.10668A>T (p.Arg3556Ser)
c.6420A>T (p.Arg2140Ser)
c.9648A>T (p.Arg3216Ser)
8g.99854178G>ACA371786060VPS13Bc.10864G>A (p.Gly3622Arg)
n.10934G>A
c.*6546G>A (n.*6546G>A)
c.10789G>A (p.Gly3597Arg)
c.10861G>A (p.Gly3621Arg)
c.10786G>A (p.Gly3596Arg)
c.10486G>A (p.Gly3496Arg)
c.7750G>A (p.Gly2584Arg)
c.6643G>A (p.Gly2215Arg)
c.10669G>A (p.Gly3557Arg)
c.6421G>A (p.Gly2141Arg)
c.9649G>A (p.Gly3217Arg)
8g.99854178G>CCA371786063VPS13Bc.10864G>C (p.Gly3622Arg)
n.10934G>C
c.*6546G>C (n.*6546G>C)
c.10789G>C (p.Gly3597Arg)
c.10861G>C (p.Gly3621Arg)
c.10786G>C (p.Gly3596Arg)
c.10486G>C (p.Gly3496Arg)
c.7750G>C (p.Gly2584Arg)
c.6643G>C (p.Gly2215Arg)
c.10669G>C (p.Gly3557Arg)
c.6421G>C (p.Gly2141Arg)
c.9649G>C (p.Gly3217Arg)
8g.99854178G>TCA371786064VPS13Bc.10864G>T (p.Gly3622Ter)
n.10934G>T
c.*6546G>T (n.*6546G>T)
c.10789G>T (p.Gly3597Ter)
c.10861G>T (p.Gly3621Ter)
c.10786G>T (p.Gly3596Ter)
c.10486G>T (p.Gly3496Ter)
c.7750G>T (p.Gly2584Ter)
c.6643G>T (p.Gly2215Ter)
c.10669G>T (p.Gly3557Ter)
c.6421G>T (p.Gly2141Ter)
c.9649G>T (p.Gly3217Ter)
8g.99854179G>ACA371786065VPS13Bc.10865G>A (p.Gly3622Glu)
n.10935G>A
c.*6547G>A (n.*6547G>A)
c.10790G>A (p.Gly3597Glu)
c.10862G>A (p.Gly3621Glu)
c.10787G>A (p.Gly3596Glu)
c.10487G>A (p.Gly3496Glu)
c.7751G>A (p.Gly2584Glu)
c.6644G>A (p.Gly2215Glu)
c.10670G>A (p.Gly3557Glu)
c.6422G>A (p.Gly2141Glu)
c.9650G>A (p.Gly3217Glu)
8g.99854179G>CCA371786067VPS13Bc.10865G>C (p.Gly3622Ala)
n.10935G>C
c.*6547G>C (n.*6547G>C)
c.10790G>C (p.Gly3597Ala)
c.10862G>C (p.Gly3621Ala)
c.10787G>C (p.Gly3596Ala)
c.10487G>C (p.Gly3496Ala)
c.7751G>C (p.Gly2584Ala)
c.6644G>C (p.Gly2215Ala)
c.10670G>C (p.Gly3557Ala)
c.6422G>C (p.Gly2141Ala)
c.9650G>C (p.Gly3217Ala)
8g.99854179G>TCA371786072VPS13Bc.10865G>T (p.Gly3622Val)
n.10935G>T
c.*6547G>T (n.*6547G>T)
c.10790G>T (p.Gly3597Val)
c.10862G>T (p.Gly3621Val)
c.10787G>T (p.Gly3596Val)
c.10487G>T (p.Gly3496Val)
c.7751G>T (p.Gly2584Val)
c.6644G>T (p.Gly2215Val)
c.10670G>T (p.Gly3557Val)
c.6422G>T (p.Gly2141Val)
c.9650G>T (p.Gly3217Val)
8g.99854180A>CCA462458398VPS13Bc.10866A>C (p.Gly3622=)
n.10936A>C
c.*6548A>C (n.*6548A>C)
c.10791A>C (p.Gly3597=)
c.10863A>C (p.Gly3621=)
c.10788A>C (p.Gly3596=)
c.10488A>C (p.Gly3496=)
c.7752A>C (p.Gly2584=)
c.6645A>C (p.Gly2215=)
c.10671A>C (p.Gly3557=)
c.6423A>C (p.Gly2141=)
c.9651A>C (p.Gly3217=)
8g.99854180A>GCA182314875VPS13Bc.10866A>G (p.Gly3622=)
n.10936A>G
c.*6548A>G (n.*6548A>G)
c.10791A>G (p.Gly3597=)
c.10863A>G (p.Gly3621=)
c.10788A>G (p.Gly3596=)
c.10488A>G (p.Gly3496=)
c.7752A>G (p.Gly2584=)
c.6645A>G (p.Gly2215=)
c.10671A>G (p.Gly3557=)
c.6423A>G (p.Gly2141=)
c.9651A>G (p.Gly3217=)
 ClinVar dbSNP COSMIC COSMIC
8g.99854180A>TCA462458399VPS13Bc.10866A>T (p.Gly3622=)
n.10936A>T
c.*6548A>T (n.*6548A>T)
c.10791A>T (p.Gly3597=)
c.10863A>T (p.Gly3621=)
c.10788A>T (p.Gly3596=)
c.10488A>T (p.Gly3496=)
c.7752A>T (p.Gly2584=)
c.6645A>T (p.Gly2215=)
c.10671A>T (p.Gly3557=)
c.6423A>T (p.Gly2141=)
c.9651A>T (p.Gly3217=)
8g.99854181C>ACA371786080VPS13Bc.10867C>A (p.Pro3623Thr)
n.10937C>A
c.*6549C>A (n.*6549C>A)
c.10792C>A (p.Pro3598Thr)
c.10864C>A (p.Pro3622Thr)
c.10789C>A (p.Pro3597Thr)
c.10489C>A (p.Pro3497Thr)
c.7753C>A (p.Pro2585Thr)
c.6646C>A (p.Pro2216Thr)
c.10672C>A (p.Pro3558Thr)
c.6424C>A (p.Pro2142Thr)
c.9652C>A (p.Pro3218Thr)
8g.99854181C>GCA371786076VPS13Bc.10867C>G (p.Pro3623Ala)
n.10937C>G
c.*6549C>G (n.*6549C>G)
c.10792C>G (p.Pro3598Ala)
c.10864C>G (p.Pro3622Ala)
c.10789C>G (p.Pro3597Ala)
c.10489C>G (p.Pro3497Ala)
c.7753C>G (p.Pro2585Ala)
c.6646C>G (p.Pro2216Ala)
c.10672C>G (p.Pro3558Ala)
c.6424C>G (p.Pro2142Ala)
c.9652C>G (p.Pro3218Ala)
 gnomAD v4
8g.99854181C>TCA371786078VPS13Bc.10867C>T (p.Pro3623Ser)
n.10937C>T
c.*6549C>T (n.*6549C>T)
c.10792C>T (p.Pro3598Ser)
c.10864C>T (p.Pro3622Ser)
c.10789C>T (p.Pro3597Ser)
c.10489C>T (p.Pro3497Ser)
c.7753C>T (p.Pro2585Ser)
c.6646C>T (p.Pro2216Ser)
c.10672C>T (p.Pro3558Ser)
c.6424C>T (p.Pro2142Ser)
c.9652C>T (p.Pro3218Ser)
8g.99854183delCA2688070837VPS13Bc.10869del (p.Ile3624SerfsTer?)
n.10939del
c.*6551del (n.*6551del)
c.10794del (p.Ile3599SerfsTer27)
c.10869del (p.Ile3624SerfsTer27)
c.10866del (p.Ile3623SerfsTer27)
c.10791del (p.Ile3598SerfsTer27)
c.10491del (p.Ile3498SerfsTer27)
c.7755del (p.Ile2586SerfsTer27)
c.6648del (p.Ile2217SerfsTer27)
c.10674del (p.Ile3559SerfsTer27)
c.6426del (p.Ile2143SerfsTer27)
c.9654del (p.Ile3219SerfsTer27)
 gnomAD v4
8g.99854182_99854186delCA2688070838VPS13Bc.10868_10872del (p.Pro3623LeufsTer22)
n.10938_10942del
c.*6550_*6554del (n.*6550_*6554del)
c.10793_10797del (p.Pro3598LeufsTer22)
c.10865_10869del (p.Pro3622LeufsTer22)
c.10790_10794del (p.Pro3597LeufsTer22)
c.10490_10494del (p.Pro3497LeufsTer22)
c.7754_7758del (p.Pro2585LeufsTer22)
c.6647_6651del (p.Pro2216LeufsTer22)
c.10673_10677del (p.Pro3558LeufsTer22)
c.6425_6429del (p.Pro2142LeufsTer22)
c.9653_9657del (p.Pro3218LeufsTer22)
 gnomAD v4
8g.99854182C>ACA371786083VPS13Bc.10868C>A (p.Pro3623His)
n.10938C>A
c.*6550C>A (n.*6550C>A)
c.10793C>A (p.Pro3598His)
c.10865C>A (p.Pro3622His)
c.10790C>A (p.Pro3597His)
c.10490C>A (p.Pro3497His)
c.7754C>A (p.Pro2585His)
c.6647C>A (p.Pro2216His)
c.10673C>A (p.Pro3558His)
c.6425C>A (p.Pro2142His)
c.9653C>A (p.Pro3218His)
 gnomAD v4
8g.99854182C>GCA371786086VPS13Bc.10868C>G (p.Pro3623Arg)
n.10938C>G
c.*6550C>G (n.*6550C>G)
c.10793C>G (p.Pro3598Arg)
c.10865C>G (p.Pro3622Arg)
c.10790C>G (p.Pro3597Arg)
c.10490C>G (p.Pro3497Arg)
c.7754C>G (p.Pro2585Arg)
c.6647C>G (p.Pro2216Arg)
c.10673C>G (p.Pro3558Arg)
c.6425C>G (p.Pro2142Arg)
c.9653C>G (p.Pro3218Arg)
8g.99854182C>TCA371786088VPS13Bc.10868C>T (p.Pro3623Leu)
n.10938C>T
c.*6550C>T (n.*6550C>T)
c.10793C>T (p.Pro3598Leu)
c.10865C>T (p.Pro3622Leu)
c.10790C>T (p.Pro3597Leu)
c.10490C>T (p.Pro3497Leu)
c.7754C>T (p.Pro2585Leu)
c.6647C>T (p.Pro2216Leu)
c.10673C>T (p.Pro3558Leu)
c.6425C>T (p.Pro2142Leu)
c.9653C>T (p.Pro3218Leu)
8g.99854183C>ACA462458401VPS13Bc.10869C>A (p.Pro3623=)
n.10939C>A
c.*6551C>A (n.*6551C>A)
c.10794C>A (p.Pro3598=)
c.10866C>A (p.Pro3622=)
c.10791C>A (p.Pro3597=)
c.10491C>A (p.Pro3497=)
c.7755C>A (p.Pro2585=)
c.6648C>A (p.Pro2216=)
c.10674C>A (p.Pro3558=)
c.6426C>A (p.Pro2142=)
c.9654C>A (p.Pro3218=)
 gnomAD v4
8g.99854183C>GCA4825015VPS13Bc.10869C>G (p.Pro3623=)
n.10939C>G
c.*6551C>G (n.*6551C>G)
c.10794C>G (p.Pro3598=)
c.10866C>G (p.Pro3622=)
c.10791C>G (p.Pro3597=)
c.10491C>G (p.Pro3497=)
c.7755C>G (p.Pro2585=)
c.6648C>G (p.Pro2216=)
c.10674C>G (p.Pro3558=)
c.6426C>G (p.Pro2142=)
c.9654C>G (p.Pro3218=)
 ClinVar dbSNP ExAC gnomAD v2
8g.99854183C>TCA4825014VPS13Bc.10869C>T (p.Pro3623=)
n.10939C>T
c.*6551C>T (n.*6551C>T)
c.10794C>T (p.Pro3598=)
c.10866C>T (p.Pro3622=)
c.10791C>T (p.Pro3597=)
c.10491C>T (p.Pro3497=)
c.7755C>T (p.Pro2585=)
c.6648C>T (p.Pro2216=)
c.10674C>T (p.Pro3558=)
c.6426C>T (p.Pro2142=)
c.9654C>T (p.Pro3218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854184A>CCA371786098VPS13Bc.10870A>C (p.Ile3624Leu)
n.10940A>C
c.*6552A>C (n.*6552A>C)
c.10795A>C (p.Ile3599Leu)
c.10867A>C (p.Ile3623Leu)
c.10792A>C (p.Ile3598Leu)
c.10492A>C (p.Ile3498Leu)
c.7756A>C (p.Ile2586Leu)
c.6649A>C (p.Ile2217Leu)
c.10675A>C (p.Ile3559Leu)
c.6427A>C (p.Ile2143Leu)
c.9655A>C (p.Ile3219Leu)
8g.99854184A>GCA371786108VPS13Bc.10870A>G (p.Ile3624Val)
n.10940A>G
c.*6552A>G (n.*6552A>G)
c.10795A>G (p.Ile3599Val)
c.10867A>G (p.Ile3623Val)
c.10792A>G (p.Ile3598Val)
c.10492A>G (p.Ile3498Val)
c.7756A>G (p.Ile2586Val)
c.6649A>G (p.Ile2217Val)
c.10675A>G (p.Ile3559Val)
c.6427A>G (p.Ile2143Val)
c.9655A>G (p.Ile3219Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99854184A>TCA371786106VPS13Bc.10870A>T (p.Ile3624Phe)
n.10940A>T
c.*6552A>T (n.*6552A>T)
c.10795A>T (p.Ile3599Phe)
c.10867A>T (p.Ile3623Phe)
c.10792A>T (p.Ile3598Phe)
c.10492A>T (p.Ile3498Phe)
c.7756A>T (p.Ile2586Phe)
c.6649A>T (p.Ile2217Phe)
c.10675A>T (p.Ile3559Phe)
c.6427A>T (p.Ile2143Phe)
c.9655A>T (p.Ile3219Phe)
8g.99854185T>ACA371786111VPS13Bc.10871T>A (p.Ile3624Asn)
n.10941T>A
c.*6553T>A (n.*6553T>A)
c.10796T>A (p.Ile3599Asn)
c.10868T>A (p.Ile3623Asn)
c.10793T>A (p.Ile3598Asn)
c.10493T>A (p.Ile3498Asn)
c.7757T>A (p.Ile2586Asn)
c.6650T>A (p.Ile2217Asn)
c.10676T>A (p.Ile3559Asn)
c.6428T>A (p.Ile2143Asn)
c.9656T>A (p.Ile3219Asn)
8g.99854185T>CCA371786114VPS13Bc.10871T>C (p.Ile3624Thr)
n.10941T>C
c.*6553T>C (n.*6553T>C)
c.10796T>C (p.Ile3599Thr)
c.10868T>C (p.Ile3623Thr)
c.10793T>C (p.Ile3598Thr)
c.10493T>C (p.Ile3498Thr)
c.7757T>C (p.Ile2586Thr)
c.6650T>C (p.Ile2217Thr)
c.10676T>C (p.Ile3559Thr)
c.6428T>C (p.Ile2143Thr)
c.9656T>C (p.Ile3219Thr)
8g.99854185T>GCA371786116VPS13Bc.10871T>G (p.Ile3624Ser)
n.10941T>G
c.*6553T>G (n.*6553T>G)
c.10796T>G (p.Ile3599Ser)
c.10868T>G (p.Ile3623Ser)
c.10793T>G (p.Ile3598Ser)
c.10493T>G (p.Ile3498Ser)
c.7757T>G (p.Ile2586Ser)
c.6650T>G (p.Ile2217Ser)
c.10676T>G (p.Ile3559Ser)
c.6428T>G (p.Ile2143Ser)
c.9656T>G (p.Ile3219Ser)
8g.99854186C>ACA462458402VPS13Bc.10872C>A (p.Ile3624=)
n.10942C>A
c.*6554C>A (n.*6554C>A)
c.10797C>A (p.Ile3599=)
c.10869C>A (p.Ile3623=)
c.10794C>A (p.Ile3598=)
c.10494C>A (p.Ile3498=)
c.7758C>A (p.Ile2586=)
c.6651C>A (p.Ile2217=)
c.10677C>A (p.Ile3559=)
c.6429C>A (p.Ile2143=)
c.9657C>A (p.Ile3219=)
8g.99854186C>GCA371786117VPS13Bc.10872C>G (p.Ile3624Met)
n.10942C>G
c.*6554C>G (n.*6554C>G)
c.10797C>G (p.Ile3599Met)
c.10869C>G (p.Ile3623Met)
c.10794C>G (p.Ile3598Met)
c.10494C>G (p.Ile3498Met)
c.7758C>G (p.Ile2586Met)
c.6651C>G (p.Ile2217Met)
c.10677C>G (p.Ile3559Met)
c.6429C>G (p.Ile2143Met)
c.9657C>G (p.Ile3219Met)
8g.99854186C>TCA4825016VPS13Bc.10872C>T (p.Ile3624=)
n.10942C>T
c.*6554C>T (n.*6554C>T)
c.10797C>T (p.Ile3599=)
c.10869C>T (p.Ile3623=)
c.10794C>T (p.Ile3598=)
c.10494C>T (p.Ile3498=)
c.7758C>T (p.Ile2586=)
c.6651C>T (p.Ile2217=)
c.10677C>T (p.Ile3559=)
c.6429C>T (p.Ile2143=)
c.9657C>T (p.Ile3219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854187T>ACA371786121VPS13Bc.10873T>A (p.Phe3625Ile)
n.10943T>A
c.*6555T>A (n.*6555T>A)
c.10798T>A (p.Phe3600Ile)
c.10870T>A (p.Phe3624Ile)
c.10795T>A (p.Phe3599Ile)
c.10495T>A (p.Phe3499Ile)
c.7759T>A (p.Phe2587Ile)
c.6652T>A (p.Phe2218Ile)
c.10678T>A (p.Phe3560Ile)
c.6430T>A (p.Phe2144Ile)
c.9658T>A (p.Phe3220Ile)
8g.99854187T>CCA371786125VPS13Bc.10873T>C (p.Phe3625Leu)
n.10943T>C
c.*6555T>C (n.*6555T>C)
c.10798T>C (p.Phe3600Leu)
c.10870T>C (p.Phe3624Leu)
c.10795T>C (p.Phe3599Leu)
c.10495T>C (p.Phe3499Leu)
c.7759T>C (p.Phe2587Leu)
c.6652T>C (p.Phe2218Leu)
c.10678T>C (p.Phe3560Leu)
c.6430T>C (p.Phe2144Leu)
c.9658T>C (p.Phe3220Leu)
 gnomAD v4
8g.99854187T>GCA371786128VPS13Bc.10873T>G (p.Phe3625Val)
n.10943T>G
c.*6555T>G (n.*6555T>G)
c.10798T>G (p.Phe3600Val)
c.10870T>G (p.Phe3624Val)
c.10795T>G (p.Phe3599Val)
c.10495T>G (p.Phe3499Val)
c.7759T>G (p.Phe2587Val)
c.6652T>G (p.Phe2218Val)
c.10678T>G (p.Phe3560Val)
c.6430T>G (p.Phe2144Val)
c.9658T>G (p.Phe3220Val)
8g.99854188T>ACA371786129VPS13Bc.10874T>A (p.Phe3625Tyr)
n.10944T>A
c.*6556T>A (n.*6556T>A)
c.10799T>A (p.Phe3600Tyr)
c.10871T>A (p.Phe3624Tyr)
c.10796T>A (p.Phe3599Tyr)
c.10496T>A (p.Phe3499Tyr)
c.7760T>A (p.Phe2587Tyr)
c.6653T>A (p.Phe2218Tyr)
c.10679T>A (p.Phe3560Tyr)
c.6431T>A (p.Phe2144Tyr)
c.9659T>A (p.Phe3220Tyr)
8g.99854188T>CCA371786130VPS13Bc.10874T>C (p.Phe3625Ser)
n.10944T>C
c.*6556T>C (n.*6556T>C)
c.10799T>C (p.Phe3600Ser)
c.10871T>C (p.Phe3624Ser)
c.10796T>C (p.Phe3599Ser)
c.10496T>C (p.Phe3499Ser)
c.7760T>C (p.Phe2587Ser)
c.6653T>C (p.Phe2218Ser)
c.10679T>C (p.Phe3560Ser)
c.6431T>C (p.Phe2144Ser)
c.9659T>C (p.Phe3220Ser)
8g.99854188T>GCA371786131VPS13Bc.10874T>G (p.Phe3625Cys)
n.10944T>G
c.*6556T>G (n.*6556T>G)
c.10799T>G (p.Phe3600Cys)
c.10871T>G (p.Phe3624Cys)
c.10796T>G (p.Phe3599Cys)
c.10496T>G (p.Phe3499Cys)
c.7760T>G (p.Phe2587Cys)
c.6653T>G (p.Phe2218Cys)
c.10679T>G (p.Phe3560Cys)
c.6431T>G (p.Phe2144Cys)
c.9659T>G (p.Phe3220Cys)
8g.99854189C>ACA371786136VPS13Bc.10875C>A (p.Phe3625Leu)
n.10945C>A
c.*6557C>A (n.*6557C>A)
c.10800C>A (p.Phe3600Leu)
c.10872C>A (p.Phe3624Leu)
c.10797C>A (p.Phe3599Leu)
c.10497C>A (p.Phe3499Leu)
c.7761C>A (p.Phe2587Leu)
c.6654C>A (p.Phe2218Leu)
c.10680C>A (p.Phe3560Leu)
c.6432C>A (p.Phe2144Leu)
c.9660C>A (p.Phe3220Leu)
8g.99854189C>GCA371786142VPS13Bc.10875C>G (p.Phe3625Leu)
n.10945C>G
c.*6557C>G (n.*6557C>G)
c.10800C>G (p.Phe3600Leu)
c.10872C>G (p.Phe3624Leu)
c.10797C>G (p.Phe3599Leu)
c.10497C>G (p.Phe3499Leu)
c.7761C>G (p.Phe2587Leu)
c.6654C>G (p.Phe2218Leu)
c.10680C>G (p.Phe3560Leu)
c.6432C>G (p.Phe2144Leu)
c.9660C>G (p.Phe3220Leu)
8g.99854189C>TCA4825017VPS13Bc.10875C>T (p.Phe3625=)
n.10945C>T
c.*6557C>T (n.*6557C>T)
c.10800C>T (p.Phe3600=)
c.10872C>T (p.Phe3624=)
c.10797C>T (p.Phe3599=)
c.10497C>T (p.Phe3499=)
c.7761C>T (p.Phe2587=)
c.6654C>T (p.Phe2218=)
c.10680C>T (p.Phe3560=)
c.6432C>T (p.Phe2144=)
c.9660C>T (p.Phe3220=)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC
8g.99854190A>CCA371786145VPS13Bc.10876A>C (p.Thr3626Pro)
n.10946A>C
c.*6558A>C (n.*6558A>C)
c.10801A>C (p.Thr3601Pro)
c.10873A>C (p.Thr3625Pro)
c.10798A>C (p.Thr3600Pro)
c.10498A>C (p.Thr3500Pro)
c.7762A>C (p.Thr2588Pro)
c.6655A>C (p.Thr2219Pro)
c.10681A>C (p.Thr3561Pro)
c.6433A>C (p.Thr2145Pro)
c.9661A>C (p.Thr3221Pro)
8g.99854190A>GCA371786148VPS13Bc.10876A>G (p.Thr3626Ala)
n.10946A>G
c.*6558A>G (n.*6558A>G)
c.10801A>G (p.Thr3601Ala)
c.10873A>G (p.Thr3625Ala)
c.10798A>G (p.Thr3600Ala)
c.10498A>G (p.Thr3500Ala)
c.7762A>G (p.Thr2588Ala)
c.6655A>G (p.Thr2219Ala)
c.10681A>G (p.Thr3561Ala)
c.6433A>G (p.Thr2145Ala)
c.9661A>G (p.Thr3221Ala)
8g.99854190A>TCA371786155VPS13Bc.10876A>T (p.Thr3626Ser)
n.10946A>T
c.*6558A>T (n.*6558A>T)
c.10801A>T (p.Thr3601Ser)
c.10873A>T (p.Thr3625Ser)
c.10798A>T (p.Thr3600Ser)
c.10498A>T (p.Thr3500Ser)
c.7762A>T (p.Thr2588Ser)
c.6655A>T (p.Thr2219Ser)
c.10681A>T (p.Thr3561Ser)
c.6433A>T (p.Thr2145Ser)
c.9661A>T (p.Thr3221Ser)
8g.99854191C>ACA371786161VPS13Bc.10877C>A (p.Thr3626Asn)
n.10947C>A
c.*6559C>A (n.*6559C>A)
c.10802C>A (p.Thr3601Asn)
c.10874C>A (p.Thr3625Asn)
c.10799C>A (p.Thr3600Asn)
c.10499C>A (p.Thr3500Asn)
c.7763C>A (p.Thr2588Asn)
c.6656C>A (p.Thr2219Asn)
c.10682C>A (p.Thr3561Asn)
c.6434C>A (p.Thr2145Asn)
c.9662C>A (p.Thr3221Asn)
8g.99854191C>GCA371786163VPS13Bc.10877C>G (p.Thr3626Ser)
n.10947C>G
c.*6559C>G (n.*6559C>G)
c.10802C>G (p.Thr3601Ser)
c.10874C>G (p.Thr3625Ser)
c.10799C>G (p.Thr3600Ser)
c.10499C>G (p.Thr3500Ser)
c.7763C>G (p.Thr2588Ser)
c.6656C>G (p.Thr2219Ser)
c.10682C>G (p.Thr3561Ser)
c.6434C>G (p.Thr2145Ser)
c.9662C>G (p.Thr3221Ser)
8g.99854191C>TCA182314887VPS13Bc.10877C>T (p.Thr3626Ile)
n.10947C>T
c.*6559C>T (n.*6559C>T)
c.10802C>T (p.Thr3601Ile)
c.10874C>T (p.Thr3625Ile)
c.10799C>T (p.Thr3600Ile)
c.10499C>T (p.Thr3500Ile)
c.7763C>T (p.Thr2588Ile)
c.6656C>T (p.Thr2219Ile)
c.10682C>T (p.Thr3561Ile)
c.6434C>T (p.Thr2145Ile)
c.9662C>T (p.Thr3221Ile)
 dbSNP
8g.99854192C>ACA462458406VPS13Bc.10878C>A (p.Thr3626=)
n.10948C>A
c.*6560C>A (n.*6560C>A)
c.10803C>A (p.Thr3601=)
c.10875C>A (p.Thr3625=)
c.10800C>A (p.Thr3600=)
c.10500C>A (p.Thr3500=)
c.7764C>A (p.Thr2588=)
c.6657C>A (p.Thr2219=)
c.10683C>A (p.Thr3561=)
c.6435C>A (p.Thr2145=)
c.9663C>A (p.Thr3221=)
8g.99854192C>GCA462458407VPS13Bc.10878C>G (p.Thr3626=)
n.10948C>G
c.*6560C>G (n.*6560C>G)
c.10803C>G (p.Thr3601=)
c.10875C>G (p.Thr3625=)
c.10800C>G (p.Thr3600=)
c.10500C>G (p.Thr3500=)
c.7764C>G (p.Thr2588=)
c.6657C>G (p.Thr2219=)
c.10683C>G (p.Thr3561=)
c.6435C>G (p.Thr2145=)
c.9663C>G (p.Thr3221=)
8g.99854192C>TCA462458408VPS13Bc.10878C>T (p.Thr3626=)
n.10948C>T
c.*6560C>T (n.*6560C>T)
c.10803C>T (p.Thr3601=)
c.10875C>T (p.Thr3625=)
c.10800C>T (p.Thr3600=)
c.10500C>T (p.Thr3500=)
c.7764C>T (p.Thr2588=)
c.6657C>T (p.Thr2219=)
c.10683C>T (p.Thr3561=)
c.6435C>T (p.Thr2145=)
c.9663C>T (p.Thr3221=)
8g.99854193A>CCA371786165VPS13Bc.10879A>C (p.Thr3627Pro)
n.10949A>C
c.*6561A>C (n.*6561A>C)
c.10804A>C (p.Thr3602Pro)
c.10876A>C (p.Thr3626Pro)
c.10801A>C (p.Thr3601Pro)
c.10501A>C (p.Thr3501Pro)
c.7765A>C (p.Thr2589Pro)
c.6658A>C (p.Thr2220Pro)
c.10684A>C (p.Thr3562Pro)
c.6436A>C (p.Thr2146Pro)
c.9664A>C (p.Thr3222Pro)
8g.99854193A>GCA371786167VPS13Bc.10879A>G (p.Thr3627Ala)
n.10949A>G
c.*6561A>G (n.*6561A>G)
c.10804A>G (p.Thr3602Ala)
c.10876A>G (p.Thr3626Ala)
c.10801A>G (p.Thr3601Ala)
c.10501A>G (p.Thr3501Ala)
c.7765A>G (p.Thr2589Ala)
c.6658A>G (p.Thr2220Ala)
c.10684A>G (p.Thr3562Ala)
c.6436A>G (p.Thr2146Ala)
c.9664A>G (p.Thr3222Ala)
8g.99854193A>TCA371786172VPS13Bc.10879A>T (p.Thr3627Ser)
n.10949A>T
c.*6561A>T (n.*6561A>T)
c.10804A>T (p.Thr3602Ser)
c.10876A>T (p.Thr3626Ser)
c.10801A>T (p.Thr3601Ser)
c.10501A>T (p.Thr3501Ser)
c.7765A>T (p.Thr2589Ser)
c.6658A>T (p.Thr2220Ser)
c.10684A>T (p.Thr3562Ser)
c.6436A>T (p.Thr2146Ser)
c.9664A>T (p.Thr3222Ser)
 ClinVar
8g.99854194C>ACA371786175VPS13Bc.10880C>A (p.Thr3627Asn)
n.10950C>A
c.*6562C>A (n.*6562C>A)
c.10805C>A (p.Thr3602Asn)
c.10877C>A (p.Thr3626Asn)
c.10802C>A (p.Thr3601Asn)
c.10502C>A (p.Thr3501Asn)
c.7766C>A (p.Thr2589Asn)
c.6659C>A (p.Thr2220Asn)
c.10685C>A (p.Thr3562Asn)
c.6437C>A (p.Thr2146Asn)
c.9665C>A (p.Thr3222Asn)
8g.99854194C>GCA371786181VPS13Bc.10880C>G (p.Thr3627Ser)
n.10950C>G
c.*6562C>G (n.*6562C>G)
c.10805C>G (p.Thr3602Ser)
c.10877C>G (p.Thr3626Ser)
c.10802C>G (p.Thr3601Ser)
c.10502C>G (p.Thr3501Ser)
c.7766C>G (p.Thr2589Ser)
c.6659C>G (p.Thr2220Ser)
c.10685C>G (p.Thr3562Ser)
c.6437C>G (p.Thr2146Ser)
c.9665C>G (p.Thr3222Ser)
8g.99854194C>TCA371786183VPS13Bc.10880C>T (p.Thr3627Ile)
n.10950C>T
c.*6562C>T (n.*6562C>T)
c.10805C>T (p.Thr3602Ile)
c.10877C>T (p.Thr3626Ile)
c.10802C>T (p.Thr3601Ile)
c.10502C>T (p.Thr3501Ile)
c.7766C>T (p.Thr2589Ile)
c.6659C>T (p.Thr2220Ile)
c.10685C>T (p.Thr3562Ile)
c.6437C>T (p.Thr2146Ile)
c.9665C>T (p.Thr3222Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.99854194_99854213delinsTTCA1139660677VPS13Bc.10880_10899delinsTT (p.Thr3627_His3633delinsIle)
n.10950_10969delinsTT
c.*6562_*6581delinsTT (n.*6562_*6581delinsTT)
c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
c.10877_10896delinsTT (p.Thr3626_His3632delinsIle)
c.10802_10821delinsTT (p.Thr3601_His3607delinsIle)
c.10502_10521delinsTT (p.Thr3501_His3507delinsIle)
c.7766_7785delinsTT (p.Thr2589_His2595delinsIle)
c.6659_6678delinsTT (p.Thr2220_His2226delinsIle)
c.10685_10704delinsTT (p.Thr3562_His3568delinsIle)
c.6437_6456delinsTT (p.Thr2146_His2152delinsIle)
c.9665_9684delinsTT (p.Thr3222_His3228delinsIle)
 ClinVar
8g.99854195T>ACA462458409VPS13Bc.10881T>A (p.Thr3627=)
n.10951T>A
c.*6563T>A (n.*6563T>A)
c.10806T>A (p.Thr3602=)
c.10878T>A (p.Thr3626=)
c.10803T>A (p.Thr3601=)
c.10503T>A (p.Thr3501=)
c.7767T>A (p.Thr2589=)
c.6660T>A (p.Thr2220=)
c.10686T>A (p.Thr3562=)
c.6438T>A (p.Thr2146=)
c.9666T>A (p.Thr3222=)
8g.99854195T>CCA462458410VPS13Bc.10881T>C (p.Thr3627=)
n.10951T>C
c.*6563T>C (n.*6563T>C)
c.10806T>C (p.Thr3602=)
c.10878T>C (p.Thr3626=)
c.10803T>C (p.Thr3601=)
c.10503T>C (p.Thr3501=)
c.7767T>C (p.Thr2589=)
c.6660T>C (p.Thr2220=)
c.10686T>C (p.Thr3562=)
c.6438T>C (p.Thr2146=)
c.9666T>C (p.Thr3222=)
 gnomAD v4
8g.99854195T>GCA462458411VPS13Bc.10881T>G (p.Thr3627=)
n.10951T>G
c.*6563T>G (n.*6563T>G)
c.10806T>G (p.Thr3602=)
c.10878T>G (p.Thr3626=)
c.10803T>G (p.Thr3601=)
c.10503T>G (p.Thr3501=)
c.7767T>G (p.Thr2589=)
c.6660T>G (p.Thr2220=)
c.10686T>G (p.Thr3562=)
c.6438T>G (p.Thr2146=)
c.9666T>G (p.Thr3222=)
8g.99854196G>ACA371786195VPS13Bc.10882G>A (p.Ala3628Thr)
n.10952G>A
c.*6564G>A (n.*6564G>A)
c.10807G>A (p.Ala3603Thr)
c.10879G>A (p.Ala3627Thr)
c.10804G>A (p.Ala3602Thr)
c.10504G>A (p.Ala3502Thr)
c.7768G>A (p.Ala2590Thr)
c.6661G>A (p.Ala2221Thr)
c.10687G>A (p.Ala3563Thr)
c.6439G>A (p.Ala2147Thr)
c.9667G>A (p.Ala3223Thr)
8g.99854196G>CCA371786194VPS13Bc.10882G>C (p.Ala3628Pro)
n.10952G>C
c.*6564G>C (n.*6564G>C)
c.10807G>C (p.Ala3603Pro)
c.10879G>C (p.Ala3627Pro)
c.10804G>C (p.Ala3602Pro)
c.10504G>C (p.Ala3502Pro)
c.7768G>C (p.Ala2590Pro)
c.6661G>C (p.Ala2221Pro)
c.10687G>C (p.Ala3563Pro)
c.6439G>C (p.Ala2147Pro)
c.9667G>C (p.Ala3223Pro)
8g.99854196G>TCA371786192VPS13Bc.10882G>T (p.Ala3628Ser)
n.10952G>T
c.*6564G>T (n.*6564G>T)
c.10807G>T (p.Ala3603Ser)
c.10879G>T (p.Ala3627Ser)
c.10804G>T (p.Ala3602Ser)
c.10504G>T (p.Ala3502Ser)
c.7768G>T (p.Ala2590Ser)
c.6661G>T (p.Ala2221Ser)
c.10687G>T (p.Ala3563Ser)
c.6439G>T (p.Ala2147Ser)
c.9667G>T (p.Ala3223Ser)
8g.99854197C>ACA371786196VPS13Bc.10883C>A (p.Ala3628Glu)
n.10953C>A
c.*6565C>A (n.*6565C>A)
c.10808C>A (p.Ala3603Glu)
c.10880C>A (p.Ala3627Glu)
c.10805C>A (p.Ala3602Glu)
c.10505C>A (p.Ala3502Glu)
c.7769C>A (p.Ala2590Glu)
c.6662C>A (p.Ala2221Glu)
c.10688C>A (p.Ala3563Glu)
c.6440C>A (p.Ala2147Glu)
c.9668C>A (p.Ala3223Glu)
 gnomAD v4
8g.99854197C>GCA371786198VPS13Bc.10883C>G (p.Ala3628Gly)
n.10953C>G
c.*6565C>G (n.*6565C>G)
c.10808C>G (p.Ala3603Gly)
c.10880C>G (p.Ala3627Gly)
c.10805C>G (p.Ala3602Gly)
c.10505C>G (p.Ala3502Gly)
c.7769C>G (p.Ala2590Gly)
c.6662C>G (p.Ala2221Gly)
c.10688C>G (p.Ala3563Gly)
c.6440C>G (p.Ala2147Gly)
c.9668C>G (p.Ala3223Gly)
 ClinVar
8g.99854197C>TCA4825018VPS13Bc.10883C>T (p.Ala3628Val)
n.10953C>T
c.*6565C>T (n.*6565C>T)
c.10808C>T (p.Ala3603Val)
c.10880C>T (p.Ala3627Val)
c.10805C>T (p.Ala3602Val)
c.10505C>T (p.Ala3502Val)
c.7769C>T (p.Ala2590Val)
c.6662C>T (p.Ala2221Val)
c.10688C>T (p.Ala3563Val)
c.6440C>T (p.Ala2147Val)
c.9668C>T (p.Ala3223Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99854198G>ACA4825019VPS13Bc.10884G>A (p.Ala3628=)
n.10954G>A
c.*6566G>A (n.*6566G>A)
c.10809G>A (p.Ala3603=)
c.10881G>A (p.Ala3627=)
c.10806G>A (p.Ala3602=)
c.10506G>A (p.Ala3502=)
c.7770G>A (p.Ala2590=)
c.6663G>A (p.Ala2221=)
c.10689G>A (p.Ala3563=)
c.6441G>A (p.Ala2147=)
c.9669G>A (p.Ala3223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99854198G>CCA462458415VPS13Bc.10884G>C (p.Ala3628=)
n.10954G>C
c.*6566G>C (n.*6566G>C)
c.10809G>C (p.Ala3603=)
c.10881G>C (p.Ala3627=)
c.10806G>C (p.Ala3602=)
c.10506G>C (p.Ala3502=)
c.7770G>C (p.Ala2590=)
c.6663G>C (p.Ala2221=)
c.10689G>C (p.Ala3563=)
c.6441G>C (p.Ala2147=)
c.9669G>C (p.Ala3223=)
8g.99854198G>TCA462458414VPS13Bc.10884G>T (p.Ala3628=)
n.10954G>T
c.*6566G>T (n.*6566G>T)
c.10809G>T (p.Ala3603=)
c.10881G>T (p.Ala3627=)
c.10806G>T (p.Ala3602=)
c.10506G>T (p.Ala3502=)
c.7770G>T (p.Ala2590=)
c.6663G>T (p.Ala2221=)
c.10689G>T (p.Ala3563=)
c.6441G>T (p.Ala2147=)
c.9669G>T (p.Ala3223=)
8g.99854199A>CCA462458416VPS13Bc.10885A>C (p.Arg3629=)
n.10955A>C
c.*6567A>C (n.*6567A>C)
c.10810A>C (p.Arg3604=)
c.10882A>C (p.Arg3628=)
c.10807A>C (p.Arg3603=)
c.10507A>C (p.Arg3503=)
c.7771A>C (p.Arg2591=)
c.6664A>C (p.Arg2222=)
c.10690A>C (p.Arg3564=)
c.6442A>C (p.Arg2148=)
c.9670A>C (p.Arg3224=)
8g.99854199A>GCA371786200VPS13Bc.10885A>G (p.Arg3629Gly)
n.10955A>G
c.*6567A>G (n.*6567A>G)
c.10810A>G (p.Arg3604Gly)
c.10882A>G (p.Arg3628Gly)
c.10807A>G (p.Arg3603Gly)
c.10507A>G (p.Arg3503Gly)
c.7771A>G (p.Arg2591Gly)
c.6664A>G (p.Arg2222Gly)
c.10690A>G (p.Arg3564Gly)
c.6442A>G (p.Arg2148Gly)
c.9670A>G (p.Arg3224Gly)
8g.99854199A>TCA371786201VPS13Bc.10885A>T (p.Arg3629Trp)
n.10955A>T
c.*6567A>T (n.*6567A>T)
c.10810A>T (p.Arg3604Trp)
c.10882A>T (p.Arg3628Trp)
c.10807A>T (p.Arg3603Trp)
c.10507A>T (p.Arg3503Trp)
c.7771A>T (p.Arg2591Trp)
c.6664A>T (p.Arg2222Trp)
c.10690A>T (p.Arg3564Trp)
c.6442A>T (p.Arg2148Trp)
c.9670A>T (p.Arg3224Trp)
8g.99854200G>ACA371786204VPS13Bc.10886G>A (p.Arg3629Lys)
n.10956G>A
c.*6568G>A (n.*6568G>A)
c.10811G>A (p.Arg3604Lys)
c.10883G>A (p.Arg3628Lys)
c.10808G>A (p.Arg3603Lys)
c.10508G>A (p.Arg3503Lys)
c.7772G>A (p.Arg2591Lys)
c.6665G>A (p.Arg2222Lys)
c.10691G>A (p.Arg3564Lys)
c.6443G>A (p.Arg2148Lys)
c.9671G>A (p.Arg3224Lys)
8g.99854200G>CCA371786209VPS13Bc.10886G>C (p.Arg3629Thr)
n.10956G>C
c.*6568G>C (n.*6568G>C)
c.10811G>C (p.Arg3604Thr)
c.10883G>C (p.Arg3628Thr)
c.10808G>C (p.Arg3603Thr)
c.10508G>C (p.Arg3503Thr)
c.7772G>C (p.Arg2591Thr)
c.6665G>C (p.Arg2222Thr)
c.10691G>C (p.Arg3564Thr)
c.6443G>C (p.Arg2148Thr)
c.9671G>C (p.Arg3224Thr)
8g.99854200G>TCA371786211VPS13Bc.10886G>T (p.Arg3629Met)
n.10956G>T
c.*6568G>T (n.*6568G>T)
c.10811G>T (p.Arg3604Met)
c.10883G>T (p.Arg3628Met)
c.10808G>T (p.Arg3603Met)
c.10508G>T (p.Arg3503Met)
c.7772G>T (p.Arg2591Met)
c.6665G>T (p.Arg2222Met)
c.10691G>T (p.Arg3564Met)
c.6443G>T (p.Arg2148Met)
c.9671G>T (p.Arg3224Met)
8g.99854201delCA2580079175VPS13Bc.10887del (p.Arg3629SerfsTer?)
n.10957del
c.*6569del (n.*6569del)
c.10812del (p.Arg3604SerfsTer22)
c.10887del (p.Arg3629SerfsTer22)
c.10884del (p.Arg3628SerfsTer22)
c.10809del (p.Arg3603SerfsTer22)
c.10509del (p.Arg3503SerfsTer22)
c.7773del (p.Arg2591SerfsTer22)
c.6666del (p.Arg2222SerfsTer22)
c.10692del (p.Arg3564SerfsTer22)
c.6444del (p.Arg2148SerfsTer22)
c.9672del (p.Arg3224SerfsTer22)
 ClinVar
8g.99854201G>ACA462458417VPS13Bc.10887G>A (p.Arg3629=)
n.10957G>A
c.*6569G>A (n.*6569G>A)
c.10812G>A (p.Arg3604=)
c.10884G>A (p.Arg3628=)
c.10809G>A (p.Arg3603=)
c.10509G>A (p.Arg3503=)
c.7773G>A (p.Arg2591=)
c.6666G>A (p.Arg2222=)
c.10692G>A (p.Arg3564=)
c.6444G>A (p.Arg2148=)
c.9672G>A (p.Arg3224=)
 gnomAD v4
8g.99854201G>CCA371786214VPS13Bc.10887G>C (p.Arg3629Ser)
n.10957G>C
c.*6569G>C (n.*6569G>C)
c.10812G>C (p.Arg3604Ser)
c.10884G>C (p.Arg3628Ser)
c.10809G>C (p.Arg3603Ser)
c.10509G>C (p.Arg3503Ser)
c.7773G>C (p.Arg2591Ser)
c.6666G>C (p.Arg2222Ser)
c.10692G>C (p.Arg3564Ser)
c.6444G>C (p.Arg2148Ser)
c.9672G>C (p.Arg3224Ser)
8g.99854201G>TCA371786216VPS13Bc.10887G>T (p.Arg3629Ser)
n.10957G>T
c.*6569G>T (n.*6569G>T)
c.10812G>T (p.Arg3604Ser)
c.10884G>T (p.Arg3628Ser)
c.10809G>T (p.Arg3603Ser)
c.10509G>T (p.Arg3503Ser)
c.7773G>T (p.Arg2591Ser)
c.6666G>T (p.Arg2222Ser)
c.10692G>T (p.Arg3564Ser)
c.6444G>T (p.Arg2148Ser)
c.9672G>T (p.Arg3224Ser)
8g.99854202C>ACA371786219VPS13Bc.10888C>A (p.Gln3630Lys)
n.10958C>A
c.*6570C>A (n.*6570C>A)
c.10813C>A (p.Gln3605Lys)
c.10885C>A (p.Gln3629Lys)
c.10810C>A (p.Gln3604Lys)
c.10510C>A (p.Gln3504Lys)
c.7774C>A (p.Gln2592Lys)
c.6667C>A (p.Gln2223Lys)
c.10693C>A (p.Gln3565Lys)
c.6445C>A (p.Gln2149Lys)
c.9673C>A (p.Gln3225Lys)
8g.99854202C>GCA371786220VPS13Bc.10888C>G (p.Gln3630Glu)
n.10958C>G
c.*6570C>G (n.*6570C>G)
c.10813C>G (p.Gln3605Glu)
c.10885C>G (p.Gln3629Glu)
c.10810C>G (p.Gln3604Glu)
c.10510C>G (p.Gln3504Glu)
c.7774C>G (p.Gln2592Glu)
c.6667C>G (p.Gln2223Glu)
c.10693C>G (p.Gln3565Glu)
c.6445C>G (p.Gln2149Glu)
c.9673C>G (p.Gln3225Glu)
8g.99854202C>TCA252447VPS13Bc.10888C>T (p.Gln3630Ter)
n.10958C>T
c.*6570C>T (n.*6570C>T)
c.10813C>T (p.Gln3605Ter)
c.10885C>T (p.Gln3629Ter)
c.10810C>T (p.Gln3604Ter)
c.10510C>T (p.Gln3504Ter)
c.7774C>T (p.Gln2592Ter)
c.6667C>T (p.Gln2223Ter)
c.10693C>T (p.Gln3565Ter)
c.6445C>T (p.Gln2149Ter)
c.9673C>T (p.Gln3225Ter)
 ClinVar dbSNP
8g.99854203A>CCA371786231VPS13Bc.10889A>C (p.Gln3630Pro)
n.10959A>C
c.*6571A>C (n.*6571A>C)
c.10814A>C (p.Gln3605Pro)
c.10886A>C (p.Gln3629Pro)
c.10811A>C (p.Gln3604Pro)
c.10511A>C (p.Gln3504Pro)
c.7775A>C (p.Gln2592Pro)
c.6668A>C (p.Gln2223Pro)
c.10694A>C (p.Gln3565Pro)
c.6446A>C (p.Gln2149Pro)
c.9674A>C (p.Gln3225Pro)
8g.99854203A>GCA4825020VPS13Bc.10889A>G (p.Gln3630Arg)
n.10959A>G
c.*6571A>G (n.*6571A>G)
c.10814A>G (p.Gln3605Arg)
c.10886A>G (p.Gln3629Arg)
c.10811A>G (p.Gln3604Arg)
c.10511A>G (p.Gln3504Arg)
c.7775A>G (p.Gln2592Arg)
c.6668A>G (p.Gln2223Arg)
c.10694A>G (p.Gln3565Arg)
c.6446A>G (p.Gln2149Arg)
c.9674A>G (p.Gln3225Arg)
 dbSNP ExAC gnomAD v2
8g.99854203A>TCA371786229VPS13Bc.10889A>T (p.Gln3630Leu)
n.10959A>T
c.*6571A>T (n.*6571A>T)
c.10814A>T (p.Gln3605Leu)
c.10886A>T (p.Gln3629Leu)
c.10811A>T (p.Gln3604Leu)
c.10511A>T (p.Gln3504Leu)
c.7775A>T (p.Gln2592Leu)
c.6668A>T (p.Gln2223Leu)
c.10694A>T (p.Gln3565Leu)
c.6446A>T (p.Gln2149Leu)
c.9674A>T (p.Gln3225Leu)
8g.99854204G>ACA462458419VPS13Bc.10890G>A (p.Gln3630=)
n.10960G>A
c.*6572G>A (n.*6572G>A)
c.10815G>A (p.Gln3605=)
c.10887G>A (p.Gln3629=)
c.10812G>A (p.Gln3604=)
c.10512G>A (p.Gln3504=)
c.7776G>A (p.Gln2592=)
c.6669G>A (p.Gln2223=)
c.10695G>A (p.Gln3565=)
c.6447G>A (p.Gln2149=)
c.9675G>A (p.Gln3225=)
8g.99854204G>CCA371786233VPS13Bc.10890G>C (p.Gln3630His)
n.10960G>C
c.*6572G>C (n.*6572G>C)
c.10815G>C (p.Gln3605His)
c.10887G>C (p.Gln3629His)
c.10812G>C (p.Gln3604His)
c.10512G>C (p.Gln3504His)
c.7776G>C (p.Gln2592His)
c.6669G>C (p.Gln2223His)
c.10695G>C (p.Gln3565His)
c.6447G>C (p.Gln2149His)
c.9675G>C (p.Gln3225His)
8g.99854204G>TCA371786237VPS13Bc.10890G>T (p.Gln3630His)
n.10960G>T
c.*6572G>T (n.*6572G>T)
c.10815G>T (p.Gln3605His)
c.10887G>T (p.Gln3629His)
c.10812G>T (p.Gln3604His)
c.10512G>T (p.Gln3504His)
c.7776G>T (p.Gln2592His)
c.6669G>T (p.Gln2223His)
c.10695G>T (p.Gln3565His)
c.6447G>T (p.Gln2149His)
c.9675G>T (p.Gln3225His)
 ClinVar
8g.99854205C>ACA182314921VPS13Bc.10891C>A (p.Leu3631Ile)
n.10961C>A
c.*6573C>A (n.*6573C>A)
c.10816C>A (p.Leu3606Ile)
c.10888C>A (p.Leu3630Ile)
c.10813C>A (p.Leu3605Ile)
c.10513C>A (p.Leu3505Ile)
c.7777C>A (p.Leu2593Ile)
c.6670C>A (p.Leu2224Ile)
c.10696C>A (p.Leu3566Ile)
c.6448C>A (p.Leu2150Ile)
c.9676C>A (p.Leu3226Ile)
 dbSNP gnomAD v4
8g.99854205C>GCA371786240VPS13Bc.10891C>G (p.Leu3631Val)
n.10961C>G
c.*6573C>G (n.*6573C>G)
c.10816C>G (p.Leu3606Val)
c.10888C>G (p.Leu3630Val)
c.10813C>G (p.Leu3605Val)
c.10513C>G (p.Leu3505Val)
c.7777C>G (p.Leu2593Val)
c.6670C>G (p.Leu2224Val)
c.10696C>G (p.Leu3566Val)
c.6448C>G (p.Leu2150Val)
c.9676C>G (p.Leu3226Val)
8g.99854205C>TCA371786241VPS13Bc.10891C>T (p.Leu3631Phe)
n.10961C>T
c.*6573C>T (n.*6573C>T)
c.10816C>T (p.Leu3606Phe)
c.10888C>T (p.Leu3630Phe)
c.10813C>T (p.Leu3605Phe)
c.10513C>T (p.Leu3505Phe)
c.7777C>T (p.Leu2593Phe)
c.6670C>T (p.Leu2224Phe)
c.10696C>T (p.Leu3566Phe)
c.6448C>T (p.Leu2150Phe)
c.9676C>T (p.Leu3226Phe)
8g.99854206T>ACA371786242VPS13Bc.10892T>A (p.Leu3631His)
n.10962T>A
c.*6574T>A (n.*6574T>A)
c.10817T>A (p.Leu3606His)
c.10889T>A (p.Leu3630His)
c.10814T>A (p.Leu3605His)
c.10514T>A (p.Leu3505His)
c.7778T>A (p.Leu2593His)
c.6671T>A (p.Leu2224His)
c.10697T>A (p.Leu3566His)
c.6449T>A (p.Leu2150His)
c.9677T>A (p.Leu3226His)
8g.99854206T>CCA371786243VPS13Bc.10892T>C (p.Leu3631Pro)
n.10962T>C
c.*6574T>C (n.*6574T>C)
c.10817T>C (p.Leu3606Pro)
c.10889T>C (p.Leu3630Pro)
c.10814T>C (p.Leu3605Pro)
c.10514T>C (p.Leu3505Pro)
c.7778T>C (p.Leu2593Pro)
c.6671T>C (p.Leu2224Pro)
c.10697T>C (p.Leu3566Pro)
c.6449T>C (p.Leu2150Pro)
c.9677T>C (p.Leu3226Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.99854206T>GCA371786245VPS13Bc.10892T>G (p.Leu3631Arg)
n.10962T>G
c.*6574T>G (n.*6574T>G)
c.10817T>G (p.Leu3606Arg)
c.10889T>G (p.Leu3630Arg)
c.10814T>G (p.Leu3605Arg)
c.10514T>G (p.Leu3505Arg)
c.7778T>G (p.Leu2593Arg)
c.6671T>G (p.Leu2224Arg)
c.10697T>G (p.Leu3566Arg)
c.6449T>G (p.Leu2150Arg)
c.9677T>G (p.Leu3226Arg)
8g.99854207T>ACA4825021VPS13Bc.10893T>A (p.Leu3631=)
n.10963T>A
c.*6575T>A (n.*6575T>A)
c.10818T>A (p.Leu3606=)
c.10890T>A (p.Leu3630=)
c.10815T>A (p.Leu3605=)
c.10515T>A (p.Leu3505=)
c.7779T>A (p.Leu2593=)
c.6672T>A (p.Leu2224=)
c.10698T>A (p.Leu3566=)
c.6450T>A (p.Leu2150=)
c.9678T>A (p.Leu3226=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854207T>CCA462458421VPS13Bc.10893T>C (p.Leu3631=)
n.10963T>C
c.*6575T>C (n.*6575T>C)
c.10818T>C (p.Leu3606=)
c.10890T>C (p.Leu3630=)
c.10815T>C (p.Leu3605=)
c.10515T>C (p.Leu3505=)
c.7779T>C (p.Leu2593=)
c.6672T>C (p.Leu2224=)
c.10698T>C (p.Leu3566=)
c.6450T>C (p.Leu2150=)
c.9678T>C (p.Leu3226=)
 ClinVar
8g.99854207T>GCA462458422VPS13Bc.10893T>G (p.Leu3631=)
n.10963T>G
c.*6575T>G (n.*6575T>G)
c.10818T>G (p.Leu3606=)
c.10890T>G (p.Leu3630=)
c.10815T>G (p.Leu3605=)
c.10515T>G (p.Leu3505=)
c.7779T>G (p.Leu2593=)
c.6672T>G (p.Leu2224=)
c.10698T>G (p.Leu3566=)
c.6450T>G (p.Leu2150=)
c.9678T>G (p.Leu3226=)
8g.99854208G>ACA182314941VPS13Bc.10894G>A (p.Val3632Met)
n.10964G>A
c.*6576G>A (n.*6576G>A)
c.10819G>A (p.Val3607Met)
c.10891G>A (p.Val3631Met)
c.10816G>A (p.Val3606Met)
c.10516G>A (p.Val3506Met)
c.7780G>A (p.Val2594Met)
c.6673G>A (p.Val2225Met)
c.10699G>A (p.Val3567Met)
c.6451G>A (p.Val2151Met)
c.9679G>A (p.Val3227Met)
 dbSNP gnomAD v4
8g.99854208G>CCA371786247VPS13Bc.10894G>C (p.Val3632Leu)
n.10964G>C
c.*6576G>C (n.*6576G>C)
c.10819G>C (p.Val3607Leu)
c.10891G>C (p.Val3631Leu)
c.10816G>C (p.Val3606Leu)
c.10516G>C (p.Val3506Leu)
c.7780G>C (p.Val2594Leu)
c.6673G>C (p.Val2225Leu)
c.10699G>C (p.Val3567Leu)
c.6451G>C (p.Val2151Leu)
c.9679G>C (p.Val3227Leu)
8g.99854208G>TCA4825022VPS13Bc.10894G>T (p.Val3632Leu)
n.10964G>T
c.*6576G>T (n.*6576G>T)
c.10819G>T (p.Val3607Leu)
c.10891G>T (p.Val3631Leu)
c.10816G>T (p.Val3606Leu)
c.10516G>T (p.Val3506Leu)
c.7780G>T (p.Val2594Leu)
c.6673G>T (p.Val2225Leu)
c.10699G>T (p.Val3567Leu)
c.6451G>T (p.Val2151Leu)
c.9679G>T (p.Val3227Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99854209T>ACA371786251VPS13Bc.10895T>A (p.Val3632Glu)
n.10965T>A
c.*6577T>A (n.*6577T>A)
c.10820T>A (p.Val3607Glu)
c.10892T>A (p.Val3631Glu)
c.10817T>A (p.Val3606Glu)
c.10517T>A (p.Val3506Glu)
c.7781T>A (p.Val2594Glu)
c.6674T>A (p.Val2225Glu)
c.10700T>A (p.Val3567Glu)
c.6452T>A (p.Val2151Glu)
c.9680T>A (p.Val3227Glu)
8g.99854209T>CCA371786249VPS13Bc.10895T>C (p.Val3632Ala)
n.10965T>C
c.*6577T>C (n.*6577T>C)
c.10820T>C (p.Val3607Ala)
c.10892T>C (p.Val3631Ala)
c.10817T>C (p.Val3606Ala)
c.10517T>C (p.Val3506Ala)
c.7781T>C (p.Val2594Ala)
c.6674T>C (p.Val2225Ala)
c.10700T>C (p.Val3567Ala)
c.6452T>C (p.Val2151Ala)
c.9680T>C (p.Val3227Ala)
8g.99854209T>GCA371786248VPS13Bc.10895T>G (p.Val3632Gly)
n.10965T>G
c.*6577T>G (n.*6577T>G)
c.10820T>G (p.Val3607Gly)
c.10892T>G (p.Val3631Gly)
c.10817T>G (p.Val3606Gly)
c.10517T>G (p.Val3506Gly)
c.7781T>G (p.Val2594Gly)
c.6674T>G (p.Val2225Gly)
c.10700T>G (p.Val3567Gly)
c.6452T>G (p.Val2151Gly)
c.9680T>G (p.Val3227Gly)
8g.99854210G>ACA462458423VPS13Bc.10896G>A (p.Val3632=)
n.10966G>A
c.*6578G>A (n.*6578G>A)
c.10821G>A (p.Val3607=)
c.10893G>A (p.Val3631=)
c.10818G>A (p.Val3606=)
c.10518G>A (p.Val3506=)
c.7782G>A (p.Val2594=)
c.6675G>A (p.Val2225=)
c.10701G>A (p.Val3567=)
c.6453G>A (p.Val2151=)
c.9681G>A (p.Val3227=)
 ClinVar dbSNP gnomAD v4
8g.99854210G>CCA462458425VPS13Bc.10896G>C (p.Val3632=)
n.10966G>C
c.*6578G>C (n.*6578G>C)
c.10821G>C (p.Val3607=)
c.10893G>C (p.Val3631=)
c.10818G>C (p.Val3606=)
c.10518G>C (p.Val3506=)
c.7782G>C (p.Val2594=)
c.6675G>C (p.Val2225=)
c.10701G>C (p.Val3567=)
c.6453G>C (p.Val2151=)
c.9681G>C (p.Val3227=)
8g.99854210G>TCA462458424VPS13Bc.10896G>T (p.Val3632=)
n.10966G>T
c.*6578G>T (n.*6578G>T)
c.10821G>T (p.Val3607=)
c.10893G>T (p.Val3631=)
c.10818G>T (p.Val3606=)
c.10518G>T (p.Val3506=)
c.7782G>T (p.Val2594=)
c.6675G>T (p.Val2225=)
c.10701G>T (p.Val3567=)
c.6453G>T (p.Val2151=)
c.9681G>T (p.Val3227=)
8g.99854211C>ACA371786253VPS13Bc.10897C>A (p.His3633Asn)
n.10967C>A
c.*6579C>A (n.*6579C>A)
c.10822C>A (p.His3608Asn)
c.10894C>A (p.His3632Asn)
c.10819C>A (p.His3607Asn)
c.10519C>A (p.His3507Asn)
c.7783C>A (p.His2595Asn)
c.6676C>A (p.His2226Asn)
c.10702C>A (p.His3568Asn)
c.6454C>A (p.His2152Asn)
c.9682C>A (p.His3228Asn)
8g.99854211C>GCA371786255VPS13Bc.10897C>G (p.His3633Asp)
n.10967C>G
c.*6579C>G (n.*6579C>G)
c.10822C>G (p.His3608Asp)
c.10894C>G (p.His3632Asp)
c.10819C>G (p.His3607Asp)
c.10519C>G (p.His3507Asp)
c.7783C>G (p.His2595Asp)
c.6676C>G (p.His2226Asp)
c.10702C>G (p.His3568Asp)
c.6454C>G (p.His2152Asp)
c.9682C>G (p.His3228Asp)
8g.99854211C>TCA371786257VPS13Bc.10897C>T (p.His3633Tyr)
n.10967C>T
c.*6579C>T (n.*6579C>T)
c.10822C>T (p.His3608Tyr)
c.10894C>T (p.His3632Tyr)
c.10819C>T (p.His3607Tyr)
c.10519C>T (p.His3507Tyr)
c.7783C>T (p.His2595Tyr)
c.6676C>T (p.His2226Tyr)
c.10702C>T (p.His3568Tyr)
c.6454C>T (p.His2152Tyr)
c.9682C>T (p.His3228Tyr)
 dbSNP gnomAD v4
8g.99854212A>CCA371786258VPS13Bc.10898A>C (p.His3633Pro)
n.10968A>C
c.*6580A>C (n.*6580A>C)
c.10823A>C (p.His3608Pro)
c.10895A>C (p.His3632Pro)
c.10820A>C (p.His3607Pro)
c.10520A>C (p.His3507Pro)
c.7784A>C (p.His2595Pro)
c.6677A>C (p.His2226Pro)
c.10703A>C (p.His3568Pro)
c.6455A>C (p.His2152Pro)
c.9683A>C (p.His3228Pro)
8g.99854212A>GCA371786259VPS13Bc.10898A>G (p.His3633Arg)
n.10968A>G
c.*6580A>G (n.*6580A>G)
c.10823A>G (p.His3608Arg)
c.10895A>G (p.His3632Arg)
c.10820A>G (p.His3607Arg)
c.10520A>G (p.His3507Arg)
c.7784A>G (p.His2595Arg)
c.6677A>G (p.His2226Arg)
c.10703A>G (p.His3568Arg)
c.6455A>G (p.His2152Arg)
c.9683A>G (p.His3228Arg)
8g.99854212A>TCA371786260VPS13Bc.10898A>T (p.His3633Leu)
n.10968A>T
c.*6580A>T (n.*6580A>T)
c.10823A>T (p.His3608Leu)
c.10895A>T (p.His3632Leu)
c.10820A>T (p.His3607Leu)
c.10520A>T (p.His3507Leu)
c.7784A>T (p.His2595Leu)
c.6677A>T (p.His2226Leu)
c.10703A>T (p.His3568Leu)
c.6455A>T (p.His2152Leu)
c.9683A>T (p.His3228Leu)
8g.99854213C>ACA371786263VPS13Bc.10899C>A (p.His3633Gln)
n.10969C>A
c.*6581C>A (n.*6581C>A)
c.10824C>A (p.His3608Gln)
c.10896C>A (p.His3632Gln)
c.10821C>A (p.His3607Gln)
c.10521C>A (p.His3507Gln)
c.7785C>A (p.His2595Gln)
c.6678C>A (p.His2226Gln)
c.10704C>A (p.His3568Gln)
c.6456C>A (p.His2152Gln)
c.9684C>A (p.His3228Gln)
 gnomAD v4
8g.99854213C>GCA371786267VPS13Bc.10899C>G (p.His3633Gln)
n.10969C>G
c.*6581C>G (n.*6581C>G)
c.10824C>G (p.His3608Gln)
c.10896C>G (p.His3632Gln)
c.10821C>G (p.His3607Gln)
c.10521C>G (p.His3507Gln)
c.7785C>G (p.His2595Gln)
c.6678C>G (p.His2226Gln)
c.10704C>G (p.His3568Gln)
c.6456C>G (p.His2152Gln)
c.9684C>G (p.His3228Gln)
8g.99854213C>TCA4825023VPS13Bc.10899C>T (p.His3633=)
n.10969C>T
c.*6581C>T (n.*6581C>T)
c.10824C>T (p.His3608=)
c.10896C>T (p.His3632=)
c.10821C>T (p.His3607=)
c.10521C>T (p.His3507=)
c.7785C>T (p.His2595=)
c.6678C>T (p.His2226=)
c.10704C>T (p.His3568=)
c.6456C>T (p.His2152=)
c.9684C>T (p.His3228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854214G>ACA4825024VPS13Bc.10900G>A (p.Ala3634Thr)
n.10970G>A
c.*6582G>A (n.*6582G>A)
c.10825G>A (p.Ala3609Thr)
c.10897G>A (p.Ala3633Thr)
c.10822G>A (p.Ala3608Thr)
c.10522G>A (p.Ala3508Thr)
c.7786G>A (p.Ala2596Thr)
c.6679G>A (p.Ala2227Thr)
c.10705G>A (p.Ala3569Thr)
c.6457G>A (p.Ala2153Thr)
c.9685G>A (p.Ala3229Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99854214G>CCA371786269VPS13Bc.10900G>C (p.Ala3634Pro)
n.10970G>C
c.*6582G>C (n.*6582G>C)
c.10825G>C (p.Ala3609Pro)
c.10897G>C (p.Ala3633Pro)
c.10822G>C (p.Ala3608Pro)
c.10522G>C (p.Ala3508Pro)
c.7786G>C (p.Ala2596Pro)
c.6679G>C (p.Ala2227Pro)
c.10705G>C (p.Ala3569Pro)
c.6457G>C (p.Ala2153Pro)
c.9685G>C (p.Ala3229Pro)
 gnomAD v4
8g.99854214G>TCA371786270VPS13Bc.10900G>T (p.Ala3634Ser)
n.10970G>T
c.*6582G>T (n.*6582G>T)
c.10825G>T (p.Ala3609Ser)
c.10897G>T (p.Ala3633Ser)
c.10822G>T (p.Ala3608Ser)
c.10522G>T (p.Ala3508Ser)
c.7786G>T (p.Ala2596Ser)
c.6679G>T (p.Ala2227Ser)
c.10705G>T (p.Ala3569Ser)
c.6457G>T (p.Ala2153Ser)
c.9685G>T (p.Ala3229Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99854215C>ACA371786278VPS13Bc.10901C>A (p.Ala3634Asp)
n.10971C>A
c.*6583C>A (n.*6583C>A)
c.10826C>A (p.Ala3609Asp)
c.10898C>A (p.Ala3633Asp)
c.10823C>A (p.Ala3608Asp)
c.10523C>A (p.Ala3508Asp)
c.7787C>A (p.Ala2596Asp)
c.6680C>A (p.Ala2227Asp)
c.10706C>A (p.Ala3569Asp)
c.6458C>A (p.Ala2153Asp)
c.9686C>A (p.Ala3229Asp)
8g.99854215C>GCA371786276VPS13Bc.10901C>G (p.Ala3634Gly)
n.10971C>G
c.*6583C>G (n.*6583C>G)
c.10826C>G (p.Ala3609Gly)
c.10898C>G (p.Ala3633Gly)
c.10823C>G (p.Ala3608Gly)
c.10523C>G (p.Ala3508Gly)
c.7787C>G (p.Ala2596Gly)
c.6680C>G (p.Ala2227Gly)
c.10706C>G (p.Ala3569Gly)
c.6458C>G (p.Ala2153Gly)
c.9686C>G (p.Ala3229Gly)
 gnomAD v4
8g.99854215C>TCA371786272VPS13Bc.10901C>T (p.Ala3634Val)
n.10971C>T
c.*6583C>T (n.*6583C>T)
c.10826C>T (p.Ala3609Val)
c.10898C>T (p.Ala3633Val)
c.10823C>T (p.Ala3608Val)
c.10523C>T (p.Ala3508Val)
c.7787C>T (p.Ala2596Val)
c.6680C>T (p.Ala2227Val)
c.10706C>T (p.Ala3569Val)
c.6458C>T (p.Ala2153Val)
c.9686C>T (p.Ala3229Val)
8g.99854216C>ACA462458429VPS13Bc.10902C>A (p.Ala3634=)
n.10972C>A
c.*6584C>A (n.*6584C>A)
c.10827C>A (p.Ala3609=)
c.10899C>A (p.Ala3633=)
c.10824C>A (p.Ala3608=)
c.10524C>A (p.Ala3508=)
c.7788C>A (p.Ala2596=)
c.6681C>A (p.Ala2227=)
c.10707C>A (p.Ala3569=)
c.6459C>A (p.Ala2153=)
c.9687C>A (p.Ala3229=)
8g.99854216C>GCA4825025VPS13Bc.10902C>G (p.Ala3634=)
n.10972C>G
c.*6584C>G (n.*6584C>G)
c.10827C>G (p.Ala3609=)
c.10899C>G (p.Ala3633=)
c.10824C>G (p.Ala3608=)
c.10524C>G (p.Ala3508=)
c.7788C>G (p.Ala2596=)
c.6681C>G (p.Ala2227=)
c.10707C>G (p.Ala3569=)
c.6459C>G (p.Ala2153=)
c.9687C>G (p.Ala3229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99854216C>TCA462458430VPS13Bc.10902C>T (p.Ala3634=)
n.10972C>T
c.*6584C>T (n.*6584C>T)
c.10827C>T (p.Ala3609=)
c.10899C>T (p.Ala3633=)
c.10824C>T (p.Ala3608=)
c.10524C>T (p.Ala3508=)
c.7788C>T (p.Ala2596=)
c.6681C>T (p.Ala2227=)
c.10707C>T (p.Ala3569=)
c.6459C>T (p.Ala2153=)
c.9687C>T (p.Ala3229=)
 dbSNP
8g.99854217C>ACA371786284VPS13Bc.10903C>A (p.Leu3635Met)
n.10973C>A
c.*6585C>A (n.*6585C>A)
c.10828C>A (p.Leu3610Met)
c.10900C>A (p.Leu3634Met)
c.10825C>A (p.Leu3609Met)
c.10525C>A (p.Leu3509Met)
c.7789C>A (p.Leu2597Met)
c.6682C>A (p.Leu2228Met)
c.10708C>A (p.Leu3570Met)
c.6460C>A (p.Leu2154Met)
c.9688C>A (p.Leu3230Met)
8g.99854217C>GCA371786282VPS13Bc.10903C>G (p.Leu3635Val)
n.10973C>G
c.*6585C>G (n.*6585C>G)
c.10828C>G (p.Leu3610Val)
c.10900C>G (p.Leu3634Val)
c.10825C>G (p.Leu3609Val)
c.10525C>G (p.Leu3509Val)
c.7789C>G (p.Leu2597Val)
c.6682C>G (p.Leu2228Val)
c.10708C>G (p.Leu3570Val)
c.6460C>G (p.Leu2154Val)
c.9688C>G (p.Leu3230Val)
8g.99854217C>TCA462458431VPS13Bc.10903C>T (p.Leu3635=)
n.10973C>T
c.*6585C>T (n.*6585C>T)
c.10828C>T (p.Leu3610=)
c.10900C>T (p.Leu3634=)
c.10825C>T (p.Leu3609=)
c.10525C>T (p.Leu3509=)
c.7789C>T (p.Leu2597=)
c.6682C>T (p.Leu2228=)
c.10708C>T (p.Leu3570=)
c.6460C>T (p.Leu2154=)
c.9688C>T (p.Leu3230=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99854218T>ACA371786285VPS13Bc.10904T>A (p.Leu3635Gln)
n.10974T>A
c.*6586T>A (n.*6586T>A)
c.10829T>A (p.Leu3610Gln)
c.10901T>A (p.Leu3634Gln)
c.10826T>A (p.Leu3609Gln)
c.10526T>A (p.Leu3509Gln)
c.7790T>A (p.Leu2597Gln)
c.6683T>A (p.Leu2228Gln)
c.10709T>A (p.Leu3570Gln)
c.6461T>A (p.Leu2154Gln)
c.9689T>A (p.Leu3230Gln)
8g.99854218T>CCA371786288VPS13Bc.10904T>C (p.Leu3635Pro)
n.10974T>C
c.*6586T>C (n.*6586T>C)
c.10829T>C (p.Leu3610Pro)
c.10901T>C (p.Leu3634Pro)
c.10826T>C (p.Leu3609Pro)
c.10526T>C (p.Leu3509Pro)
c.7790T>C (p.Leu2597Pro)
c.6683T>C (p.Leu2228Pro)
c.10709T>C (p.Leu3570Pro)
c.6461T>C (p.Leu2154Pro)
c.9689T>C (p.Leu3230Pro)
 dbSNP
8g.99854218T>GCA371786289VPS13Bc.10904T>G (p.Leu3635Arg)
n.10974T>G
c.*6586T>G (n.*6586T>G)
c.10829T>G (p.Leu3610Arg)
c.10901T>G (p.Leu3634Arg)
c.10826T>G (p.Leu3609Arg)
c.10526T>G (p.Leu3509Arg)
c.7790T>G (p.Leu2597Arg)
c.6683T>G (p.Leu2228Arg)
c.10709T>G (p.Leu3570Arg)
c.6461T>G (p.Leu2154Arg)
c.9689T>G (p.Leu3230Arg)
8g.99854219G>ACA462458437VPS13Bc.10905G>A (p.Leu3635=)
n.10975G>A
c.*6587G>A (n.*6587G>A)
c.10830G>A (p.Leu3610=)
c.10902G>A (p.Leu3634=)
c.10827G>A (p.Leu3609=)
c.10527G>A (p.Leu3509=)
c.7791G>A (p.Leu2597=)
c.6684G>A (p.Leu2228=)
c.10710G>A (p.Leu3570=)
c.6462G>A (p.Leu2154=)
c.9690G>A (p.Leu3230=)
 ClinVar gnomAD v4
8g.99854219G>CCA462458436VPS13Bc.10905G>C (p.Leu3635=)
n.10975G>C
c.*6587G>C (n.*6587G>C)
c.10830G>C (p.Leu3610=)
c.10902G>C (p.Leu3634=)
c.10827G>C (p.Leu3609=)
c.10527G>C (p.Leu3509=)
c.7791G>C (p.Leu2597=)
c.6684G>C (p.Leu2228=)
c.10710G>C (p.Leu3570=)
c.6462G>C (p.Leu2154=)
c.9690G>C (p.Leu3230=)
8g.99854219G>TCA462458434VPS13Bc.10905G>T (p.Leu3635=)
n.10975G>T
c.*6587G>T (n.*6587G>T)
c.10830G>T (p.Leu3610=)
c.10902G>T (p.Leu3634=)
c.10827G>T (p.Leu3609=)
c.10527G>T (p.Leu3509=)
c.7791G>T (p.Leu2597=)
c.6684G>T (p.Leu2228=)
c.10710G>T (p.Leu3570=)
c.6462G>T (p.Leu2154=)
c.9690G>T (p.Leu3230=)
8g.99854220G>ACA371786290VPS13Bc.10906G>A (p.Ala3636Thr)
n.10976G>A
c.*6588G>A (n.*6588G>A)
c.10831G>A (p.Ala3611Thr)
c.10903G>A (p.Ala3635Thr)
c.10828G>A (p.Ala3610Thr)
c.10528G>A (p.Ala3510Thr)
c.7792G>A (p.Ala2598Thr)
c.6685G>A (p.Ala2229Thr)
c.10711G>A (p.Ala3571Thr)
c.6463G>A (p.Ala2155Thr)
c.9691G>A (p.Ala3231Thr)
8g.99854220G>CCA371786291VPS13Bc.10906G>C (p.Ala3636Pro)
n.10976G>C
c.*6588G>C (n.*6588G>C)
c.10831G>C (p.Ala3611Pro)
c.10903G>C (p.Ala3635Pro)
c.10828G>C (p.Ala3610Pro)
c.10528G>C (p.Ala3510Pro)
c.7792G>C (p.Ala2598Pro)
c.6685G>C (p.Ala2229Pro)
c.10711G>C (p.Ala3571Pro)
c.6463G>C (p.Ala2155Pro)
c.9691G>C (p.Ala3231Pro)
8g.99854220G>TCA371786293VPS13Bc.10906G>T (p.Ala3636Ser)
n.10976G>T
c.*6588G>T (n.*6588G>T)
c.10831G>T (p.Ala3611Ser)
c.10903G>T (p.Ala3635Ser)
c.10828G>T (p.Ala3610Ser)
c.10528G>T (p.Ala3510Ser)
c.7792G>T (p.Ala2598Ser)
c.6685G>T (p.Ala2229Ser)
c.10711G>T (p.Ala3571Ser)
c.6463G>T (p.Ala2155Ser)
c.9691G>T (p.Ala3231Ser)
8g.99854221C>ACA371786294VPS13Bc.10907C>A (p.Ala3636Glu)
n.10977C>A
c.*6589C>A (n.*6589C>A)
c.10832C>A (p.Ala3611Glu)
c.10904C>A (p.Ala3635Glu)
c.10829C>A (p.Ala3610Glu)
c.10529C>A (p.Ala3510Glu)
c.7793C>A (p.Ala2598Glu)
c.6686C>A (p.Ala2229Glu)
c.10712C>A (p.Ala3571Glu)
c.6464C>A (p.Ala2155Glu)
c.9692C>A (p.Ala3231Glu)
8g.99854221C>GCA371786295VPS13Bc.10907C>G (p.Ala3636Gly)
n.10977C>G
c.*6589C>G (n.*6589C>G)
c.10832C>G (p.Ala3611Gly)
c.10904C>G (p.Ala3635Gly)
c.10829C>G (p.Ala3610Gly)
c.10529C>G (p.Ala3510Gly)
c.7793C>G (p.Ala2598Gly)
c.6686C>G (p.Ala2229Gly)
c.10712C>G (p.Ala3571Gly)
c.6464C>G (p.Ala2155Gly)
c.9692C>G (p.Ala3231Gly)
8g.99854221C>TCA371786296VPS13Bc.10907C>T (p.Ala3636Val)
n.10977C>T
c.*6589C>T (n.*6589C>T)
c.10832C>T (p.Ala3611Val)
c.10904C>T (p.Ala3635Val)
c.10829C>T (p.Ala3610Val)
c.10529C>T (p.Ala3510Val)
c.7793C>T (p.Ala2598Val)
c.6686C>T (p.Ala2229Val)
c.10712C>T (p.Ala3571Val)
c.6464C>T (p.Ala2155Val)
c.9692C>T (p.Ala3231Val)
8g.99854222A>CCA462458439VPS13Bc.10908A>C (p.Ala3636=)
n.10978A>C
c.*6590A>C (n.*6590A>C)
c.10833A>C (p.Ala3611=)
c.10905A>C (p.Ala3635=)
c.10830A>C (p.Ala3610=)
c.10530A>C (p.Ala3510=)
c.7794A>C (p.Ala2598=)
c.6687A>C (p.Ala2229=)
c.10713A>C (p.Ala3571=)
c.6465A>C (p.Ala2155=)
c.9693A>C (p.Ala3231=)
8g.99854222A>GCA462458440VPS13Bc.10908A>G (p.Ala3636=)
n.10978A>G
c.*6590A>G (n.*6590A>G)
c.10833A>G (p.Ala3611=)
c.10905A>G (p.Ala3635=)
c.10830A>G (p.Ala3610=)
c.10530A>G (p.Ala3510=)
c.7794A>G (p.Ala2598=)
c.6687A>G (p.Ala2229=)
c.10713A>G (p.Ala3571=)
c.6465A>G (p.Ala2155=)
c.9693A>G (p.Ala3231=)
 dbSNP
8g.99854222A>TCA462458441VPS13Bc.10908A>T (p.Ala3636=)
n.10978A>T
c.*6590A>T (n.*6590A>T)
c.10833A>T (p.Ala3611=)
c.10905A>T (p.Ala3635=)
c.10830A>T (p.Ala3610=)
c.10530A>T (p.Ala3510=)
c.7794A>T (p.Ala2598=)
c.6687A>T (p.Ala2229=)
c.10713A>T (p.Ala3571=)
c.6465A>T (p.Ala2155=)
c.9693A>T (p.Ala3231=)
8g.99854223A>CCA371786298VPS13Bc.10909A>C (p.Met3637Leu)
n.10979A>C
c.*6591A>C (n.*6591A>C)
c.10834A>C (p.Met3612Leu)
c.10906A>C (p.Met3636Leu)
c.10831A>C (p.Met3611Leu)
c.10531A>C (p.Met3511Leu)
c.7795A>C (p.Met2599Leu)
c.6688A>C (p.Met2230Leu)
c.10714A>C (p.Met3572Leu)
c.6466A>C (p.Met2156Leu)
c.9694A>C (p.Met3232Leu)
8g.99854223A>GCA371786299VPS13Bc.10909A>G (p.Met3637Val)
n.10979A>G
c.*6591A>G (n.*6591A>G)
c.10834A>G (p.Met3612Val)
c.10906A>G (p.Met3636Val)
c.10831A>G (p.Met3611Val)
c.10531A>G (p.Met3511Val)
c.7795A>G (p.Met2599Val)
c.6688A>G (p.Met2230Val)
c.10714A>G (p.Met3572Val)
c.6466A>G (p.Met2156Val)
c.9694A>G (p.Met3232Val)
 gnomAD v4
8g.99854223A>TCA371786300VPS13Bc.10909A>T (p.Met3637Leu)
n.10979A>T
c.*6591A>T (n.*6591A>T)
c.10834A>T (p.Met3612Leu)
c.10906A>T (p.Met3636Leu)
c.10831A>T (p.Met3611Leu)
c.10531A>T (p.Met3511Leu)
c.7795A>T (p.Met2599Leu)
c.6688A>T (p.Met2230Leu)
c.10714A>T (p.Met3572Leu)
c.6466A>T (p.Met2156Leu)
c.9694A>T (p.Met3232Leu)
8g.99854224T>ACA371786301VPS13Bc.10910T>A (p.Met3637Lys)
n.10980T>A
c.*6592T>A (n.*6592T>A)
c.10835T>A (p.Met3612Lys)
c.10907T>A (p.Met3636Lys)
c.10832T>A (p.Met3611Lys)
c.10532T>A (p.Met3511Lys)
c.7796T>A (p.Met2599Lys)
c.6689T>A (p.Met2230Lys)
c.10715T>A (p.Met3572Lys)
c.6467T>A (p.Met2156Lys)
c.9695T>A (p.Met3232Lys)
8g.99854224T>CCA371786304VPS13Bc.10910T>C (p.Met3637Thr)
n.10980T>C
c.*6592T>C (n.*6592T>C)
c.10835T>C (p.Met3612Thr)
c.10907T>C (p.Met3636Thr)
c.10832T>C (p.Met3611Thr)
c.10532T>C (p.Met3511Thr)
c.7796T>C (p.Met2599Thr)
c.6689T>C (p.Met2230Thr)
c.10715T>C (p.Met3572Thr)
c.6467T>C (p.Met2156Thr)
c.9695T>C (p.Met3232Thr)
 gnomAD v4
8g.99854224T>GCA371786302VPS13Bc.10910T>G (p.Met3637Arg)
n.10980T>G
c.*6592T>G (n.*6592T>G)
c.10835T>G (p.Met3612Arg)
c.10907T>G (p.Met3636Arg)
c.10832T>G (p.Met3611Arg)
c.10532T>G (p.Met3511Arg)
c.7796T>G (p.Met2599Arg)
c.6689T>G (p.Met2230Arg)
c.10715T>G (p.Met3572Arg)
c.6467T>G (p.Met2156Arg)
c.9695T>G (p.Met3232Arg)
8g.99854225G>ACA371786309VPS13Bc.10911G>A (p.Met3637Ile)
n.10981G>A
c.*6593G>A (n.*6593G>A)
c.10836G>A (p.Met3612Ile)
c.10908G>A (p.Met3636Ile)
c.10833G>A (p.Met3611Ile)
c.10533G>A (p.Met3511Ile)
c.7797G>A (p.Met2599Ile)
c.6690G>A (p.Met2230Ile)
c.10716G>A (p.Met3572Ile)
c.6468G>A (p.Met2156Ile)
c.9696G>A (p.Met3232Ile)
 gnomAD v4
8g.99854225G>CCA371786317VPS13Bc.10911G>C (p.Met3637Ile)
n.10981G>C
c.*6593G>C (n.*6593G>C)
c.10836G>C (p.Met3612Ile)
c.10908G>C (p.Met3636Ile)
c.10833G>C (p.Met3611Ile)
c.10533G>C (p.Met3511Ile)
c.7797G>C (p.Met2599Ile)
c.6690G>C (p.Met2230Ile)
c.10716G>C (p.Met3572Ile)
c.6468G>C (p.Met2156Ile)
c.9696G>C (p.Met3232Ile)
8g.99854225G>TCA371786319VPS13Bc.10911G>T (p.Met3637Ile)
n.10981G>T
c.*6593G>T (n.*6593G>T)
c.10836G>T (p.Met3612Ile)
c.10908G>T (p.Met3636Ile)
c.10833G>T (p.Met3611Ile)
c.10533G>T (p.Met3511Ile)
c.7797G>T (p.Met2599Ile)
c.6690G>T (p.Met2230Ile)
c.10716G>T (p.Met3572Ile)
c.6468G>T (p.Met2156Ile)
c.9696G>T (p.Met3232Ile)
 dbSNP COSMIC
8g.99854226C>ACA371786320VPS13Bc.10912C>A (p.His3638Asn)
n.10982C>A
c.*6594C>A (n.*6594C>A)
c.10837C>A (p.His3613Asn)
c.10909C>A (p.His3637Asn)
c.10834C>A (p.His3612Asn)
c.10534C>A (p.His3512Asn)
c.7798C>A (p.His2600Asn)
c.6691C>A (p.His2231Asn)
c.10717C>A (p.His3573Asn)
c.6469C>A (p.His2157Asn)
c.9697C>A (p.His3233Asn)
8g.99854226C>GCA371786321VPS13Bc.10912C>G (p.His3638Asp)
n.10982C>G
c.*6594C>G (n.*6594C>G)
c.10837C>G (p.His3613Asp)
c.10909C>G (p.His3637Asp)
c.10834C>G (p.His3612Asp)
c.10534C>G (p.His3512Asp)
c.7798C>G (p.His2600Asp)
c.6691C>G (p.His2231Asp)
c.10717C>G (p.His3573Asp)
c.6469C>G (p.His2157Asp)
c.9697C>G (p.His3233Asp)
 gnomAD v4
8g.99854226C>TCA371786322VPS13Bc.10912C>T (p.His3638Tyr)
n.10982C>T
c.*6594C>T (n.*6594C>T)
c.10837C>T (p.His3613Tyr)
c.10909C>T (p.His3637Tyr)
c.10834C>T (p.His3612Tyr)
c.10534C>T (p.His3512Tyr)
c.7798C>T (p.His2600Tyr)
c.6691C>T (p.His2231Tyr)
c.10717C>T (p.His3573Tyr)
c.6469C>T (p.His2157Tyr)
c.9697C>T (p.His3233Tyr)
 dbSNP gnomAD v4
8g.99854227A>CCA371786325VPS13Bc.10913A>C (p.His3638Pro)
n.10983A>C
c.*6595A>C (n.*6595A>C)
c.10838A>C (p.His3613Pro)
c.10910A>C (p.His3637Pro)
c.10835A>C (p.His3612Pro)
c.10535A>C (p.His3512Pro)
c.7799A>C (p.His2600Pro)
c.6692A>C (p.His2231Pro)
c.10718A>C (p.His3573Pro)
c.6470A>C (p.His2157Pro)
c.9698A>C (p.His3233Pro)
 gnomAD v4
8g.99854227A>GCA371786327VPS13Bc.10913A>G (p.His3638Arg)
n.10983A>G
c.*6595A>G (n.*6595A>G)
c.10838A>G (p.His3613Arg)
c.10910A>G (p.His3637Arg)
c.10835A>G (p.His3612Arg)
c.10535A>G (p.His3512Arg)
c.7799A>G (p.His2600Arg)
c.6692A>G (p.His2231Arg)
c.10718A>G (p.His3573Arg)
c.6470A>G (p.His2157Arg)
c.9698A>G (p.His3233Arg)
8g.99854227A>TCA371786328VPS13Bc.10913A>T (p.His3638Leu)
n.10983A>T
c.*6595A>T (n.*6595A>T)
c.10838A>T (p.His3613Leu)
c.10910A>T (p.His3637Leu)
c.10835A>T (p.His3612Leu)
c.10535A>T (p.His3512Leu)
c.7799A>T (p.His2600Leu)
c.6692A>T (p.His2231Leu)
c.10718A>T (p.His3573Leu)
c.6470A>T (p.His2157Leu)
c.9698A>T (p.His3233Leu)
8g.99854228C>ACA371786332VPS13Bc.10914C>A (p.His3638Gln)
n.10984C>A
c.*6596C>A (n.*6596C>A)
c.10839C>A (p.His3613Gln)
c.10911C>A (p.His3637Gln)
c.10836C>A (p.His3612Gln)
c.10536C>A (p.His3512Gln)
c.7800C>A (p.His2600Gln)
c.6693C>A (p.His2231Gln)
c.10719C>A (p.His3573Gln)
c.6471C>A (p.His2157Gln)
c.9699C>A (p.His3233Gln)
8g.99854228C>GCA371786333VPS13Bc.10914C>G (p.His3638Gln)
n.10984C>G
c.*6596C>G (n.*6596C>G)
c.10839C>G (p.His3613Gln)
c.10911C>G (p.His3637Gln)
c.10836C>G (p.His3612Gln)
c.10536C>G (p.His3512Gln)
c.7800C>G (p.His2600Gln)
c.6693C>G (p.His2231Gln)
c.10719C>G (p.His3573Gln)
c.6471C>G (p.His2157Gln)
c.9699C>G (p.His3233Gln)
8g.99854228C>TCA462458447VPS13Bc.10914C>T (p.His3638=)
n.10984C>T
c.*6596C>T (n.*6596C>T)
c.10839C>T (p.His3613=)
c.10911C>T (p.His3637=)
c.10836C>T (p.His3612=)
c.10536C>T (p.His3512=)
c.7800C>T (p.His2600=)
c.6693C>T (p.His2231=)
c.10719C>T (p.His3573=)
c.6471C>T (p.His2157=)
c.9699C>T (p.His3233=)
 gnomAD v4
8g.99854229T>ACA371786337VPS13Bc.10915T>A (p.Tyr3639Asn)
n.10985T>A
c.*6597T>A (n.*6597T>A)
c.10840T>A (p.Tyr3614Asn)
c.10912T>A (p.Tyr3638Asn)
c.10837T>A (p.Tyr3613Asn)
c.10537T>A (p.Tyr3513Asn)
c.7801T>A (p.Tyr2601Asn)
c.6694T>A (p.Tyr2232Asn)
c.10720T>A (p.Tyr3574Asn)
c.6472T>A (p.Tyr2158Asn)
c.9700T>A (p.Tyr3234Asn)
8g.99854229T>CCA371786335VPS13Bc.10915T>C (p.Tyr3639His)
n.10985T>C
c.*6597T>C (n.*6597T>C)
c.10840T>C (p.Tyr3614His)
c.10912T>C (p.Tyr3638His)
c.10837T>C (p.Tyr3613His)
c.10537T>C (p.Tyr3513His)
c.7801T>C (p.Tyr2601His)
c.6694T>C (p.Tyr2232His)
c.10720T>C (p.Tyr3574His)
c.6472T>C (p.Tyr2158His)
c.9700T>C (p.Tyr3234His)
8g.99854229T>GCA371786334VPS13Bc.10915T>G (p.Tyr3639Asp)
n.10985T>G
c.*6597T>G (n.*6597T>G)
c.10840T>G (p.Tyr3614Asp)
c.10912T>G (p.Tyr3638Asp)
c.10837T>G (p.Tyr3613Asp)
c.10537T>G (p.Tyr3513Asp)
c.7801T>G (p.Tyr2601Asp)
c.6694T>G (p.Tyr2232Asp)
c.10720T>G (p.Tyr3574Asp)
c.6472T>G (p.Tyr2158Asp)
c.9700T>G (p.Tyr3234Asp)
8g.99854230A>CCA371786342VPS13Bc.10916A>C (p.Tyr3639Ser)
n.10986A>C
c.*6598A>C (n.*6598A>C)
c.10841A>C (p.Tyr3614Ser)
c.10913A>C (p.Tyr3638Ser)
c.10838A>C (p.Tyr3613Ser)
c.10538A>C (p.Tyr3513Ser)
c.7802A>C (p.Tyr2601Ser)
c.6695A>C (p.Tyr2232Ser)
c.10721A>C (p.Tyr3574Ser)
c.6473A>C (p.Tyr2158Ser)
c.9701A>C (p.Tyr3234Ser)
8g.99854230A>GCA371786338VPS13Bc.10916A>G (p.Tyr3639Cys)
n.10986A>G
c.*6598A>G (n.*6598A>G)
c.10841A>G (p.Tyr3614Cys)
c.10913A>G (p.Tyr3638Cys)
c.10838A>G (p.Tyr3613Cys)
c.10538A>G (p.Tyr3513Cys)
c.7802A>G (p.Tyr2601Cys)
c.6695A>G (p.Tyr2232Cys)
c.10721A>G (p.Tyr3574Cys)
c.6473A>G (p.Tyr2158Cys)
c.9701A>G (p.Tyr3234Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.99854230A>TCA371786339VPS13Bc.10916A>T (p.Tyr3639Phe)
n.10986A>T
c.*6598A>T (n.*6598A>T)
c.10841A>T (p.Tyr3614Phe)
c.10913A>T (p.Tyr3638Phe)
c.10838A>T (p.Tyr3613Phe)
c.10538A>T (p.Tyr3513Phe)
c.7802A>T (p.Tyr2601Phe)
c.6695A>T (p.Tyr2232Phe)
c.10721A>T (p.Tyr3574Phe)
c.6473A>T (p.Tyr2158Phe)
c.9701A>T (p.Tyr3234Phe)
8g.99854231T>ACA371786343VPS13Bc.10917T>A (p.Tyr3639Ter)
n.10987T>A
c.*6599T>A (n.*6599T>A)
c.10842T>A (p.Tyr3614Ter)
c.10914T>A (p.Tyr3638Ter)
c.10839T>A (p.Tyr3613Ter)
c.10539T>A (p.Tyr3513Ter)
c.7803T>A (p.Tyr2601Ter)
c.6696T>A (p.Tyr2232Ter)
c.10722T>A (p.Tyr3574Ter)
c.6474T>A (p.Tyr2158Ter)
c.9702T>A (p.Tyr3234Ter)
8g.99854231T>CCA462458456VPS13Bc.10917T>C (p.Tyr3639=)
n.10987T>C
c.*6599T>C (n.*6599T>C)
c.10842T>C (p.Tyr3614=)
c.10914T>C (p.Tyr3638=)
c.10839T>C (p.Tyr3613=)
c.10539T>C (p.Tyr3513=)
c.7803T>C (p.Tyr2601=)
c.6696T>C (p.Tyr2232=)
c.10722T>C (p.Tyr3574=)
c.6474T>C (p.Tyr2158=)
c.9702T>C (p.Tyr3234=)
 ClinVar dbSNP
8g.99854231T>GCA371786345VPS13Bc.10917T>G (p.Tyr3639Ter)
n.10987T>G
c.*6599T>G (n.*6599T>G)
c.10842T>G (p.Tyr3614Ter)
c.10914T>G (p.Tyr3638Ter)
c.10839T>G (p.Tyr3613Ter)
c.10539T>G (p.Tyr3513Ter)
c.7803T>G (p.Tyr2601Ter)
c.6696T>G (p.Tyr2232Ter)
c.10722T>G (p.Tyr3574Ter)
c.6474T>G (p.Tyr2158Ter)
c.9702T>G (p.Tyr3234Ter)
 gnomAD v4
8g.99854232G>ACA371786350VPS13Bc.10918G>A (p.Ala3640Thr)
n.10988G>A
c.*6600G>A (n.*6600G>A)
c.10843G>A (p.Ala3615Thr)
c.10915G>A (p.Ala3639Thr)
c.10840G>A (p.Ala3614Thr)
c.10540G>A (p.Ala3514Thr)
c.7804G>A (p.Ala2602Thr)
c.6697G>A (p.Ala2233Thr)
c.10723G>A (p.Ala3575Thr)
c.6475G>A (p.Ala2159Thr)
c.9703G>A (p.Ala3235Thr)
8g.99854232G>CCA371786351VPS13Bc.10918G>C (p.Ala3640Pro)
n.10988G>C
c.*6600G>C (n.*6600G>C)
c.10843G>C (p.Ala3615Pro)
c.10915G>C (p.Ala3639Pro)
c.10840G>C (p.Ala3614Pro)
c.10540G>C (p.Ala3514Pro)
c.7804G>C (p.Ala2602Pro)
c.6697G>C (p.Ala2233Pro)
c.10723G>C (p.Ala3575Pro)
c.6475G>C (p.Ala2159Pro)
c.9703G>C (p.Ala3235Pro)
8g.99854232G>TCA371786352VPS13Bc.10918G>T (p.Ala3640Ser)
n.10988G>T
c.*6600G>T (n.*6600G>T)
c.10843G>T (p.Ala3615Ser)
c.10915G>T (p.Ala3639Ser)
c.10840G>T (p.Ala3614Ser)
c.10540G>T (p.Ala3514Ser)
c.7804G>T (p.Ala2602Ser)
c.6697G>T (p.Ala2233Ser)
c.10723G>T (p.Ala3575Ser)
c.6475G>T (p.Ala2159Ser)
c.9703G>T (p.Ala3235Ser)

Number of alleles fetched