Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99717279delCA2688067387VPS13Bc.6638del (p.Asn2213IlefsTer26)
n.6708del
c.*2320del (n.*2320del)
c.6563del (p.Asn2188IlefsTer26)
c.6635del (p.Asn2212IlefsTer26)
c.6560del (p.Asn2187IlefsTer26)
c.6260del (p.Asn2087IlefsTer26)
c.3524del (p.Asn1175IlefsTer26)
c.2417del (p.Asn806IlefsTer26)
c.6443del (p.Asn2148IlefsTer26)
c.2195del (p.Asn732IlefsTer26)
c.5423del (p.Asn1808IlefsTer26)
 gnomAD v4
8g.99717279A>CCA371867303VPS13Bc.6638A>C (p.Asn2213Thr)
n.6708A>C
c.*2320A>C (n.*2320A>C)
c.6563A>C (p.Asn2188Thr)
c.6635A>C (p.Asn2212Thr)
c.6560A>C (p.Asn2187Thr)
c.6260A>C (p.Asn2087Thr)
c.3524A>C (p.Asn1175Thr)
c.2417A>C (p.Asn806Thr)
c.6443A>C (p.Asn2148Thr)
c.2195A>C (p.Asn732Thr)
c.5423A>C (p.Asn1808Thr)
8g.99717279A>GCA371867304VPS13Bc.6638A>G (p.Asn2213Ser)
n.6708A>G
c.*2320A>G (n.*2320A>G)
c.6563A>G (p.Asn2188Ser)
c.6635A>G (p.Asn2212Ser)
c.6560A>G (p.Asn2187Ser)
c.6260A>G (p.Asn2087Ser)
c.3524A>G (p.Asn1175Ser)
c.2417A>G (p.Asn806Ser)
c.6443A>G (p.Asn2148Ser)
c.2195A>G (p.Asn732Ser)
c.5423A>G (p.Asn1808Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717279A>TCA371867305VPS13Bc.6638A>T (p.Asn2213Ile)
n.6708A>T
c.*2320A>T (n.*2320A>T)
c.6563A>T (p.Asn2188Ile)
c.6635A>T (p.Asn2212Ile)
c.6560A>T (p.Asn2187Ile)
c.6260A>T (p.Asn2087Ile)
c.3524A>T (p.Asn1175Ile)
c.2417A>T (p.Asn806Ile)
c.6443A>T (p.Asn2148Ile)
c.2195A>T (p.Asn732Ile)
c.5423A>T (p.Asn1808Ile)
8g.99717280T>ACA371867306VPS13Bc.6639T>A (p.Asn2213Lys)
n.6709T>A
c.*2321T>A (n.*2321T>A)
c.6564T>A (p.Asn2188Lys)
c.6636T>A (p.Asn2212Lys)
c.6561T>A (p.Asn2187Lys)
c.6261T>A (p.Asn2087Lys)
c.3525T>A (p.Asn1175Lys)
c.2418T>A (p.Asn806Lys)
c.6444T>A (p.Asn2148Lys)
c.2196T>A (p.Asn732Lys)
c.5424T>A (p.Asn1808Lys)
8g.99717280T>CCA4824029VPS13Bc.6639T>C (p.Asn2213=)
n.6709T>C
c.*2321T>C (n.*2321T>C)
c.6564T>C (p.Asn2188=)
c.6636T>C (p.Asn2212=)
c.6561T>C (p.Asn2187=)
c.6261T>C (p.Asn2087=)
c.3525T>C (p.Asn1175=)
c.2418T>C (p.Asn806=)
c.6444T>C (p.Asn2148=)
c.2196T>C (p.Asn732=)
c.5424T>C (p.Asn1808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717280T>GCA371867307VPS13Bc.6639T>G (p.Asn2213Lys)
n.6709T>G
c.*2321T>G (n.*2321T>G)
c.6564T>G (p.Asn2188Lys)
c.6636T>G (p.Asn2212Lys)
c.6561T>G (p.Asn2187Lys)
c.6261T>G (p.Asn2087Lys)
c.3525T>G (p.Asn1175Lys)
c.2418T>G (p.Asn806Lys)
c.6444T>G (p.Asn2148Lys)
c.2196T>G (p.Asn732Lys)
c.5424T>G (p.Asn1808Lys)
8g.99717281C>ACA371867308VPS13Bc.6640C>A (p.Leu2214Met)
n.6710C>A
c.*2322C>A (n.*2322C>A)
c.6565C>A (p.Leu2189Met)
c.6637C>A (p.Leu2213Met)
c.6562C>A (p.Leu2188Met)
c.6262C>A (p.Leu2088Met)
c.3526C>A (p.Leu1176Met)
c.2419C>A (p.Leu807Met)
c.6445C>A (p.Leu2149Met)
c.2197C>A (p.Leu733Met)
c.5425C>A (p.Leu1809Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717281C>GCA371867309VPS13Bc.6640C>G (p.Leu2214Val)
n.6710C>G
c.*2322C>G (n.*2322C>G)
c.6565C>G (p.Leu2189Val)
c.6637C>G (p.Leu2213Val)
c.6562C>G (p.Leu2188Val)
c.6262C>G (p.Leu2088Val)
c.3526C>G (p.Leu1176Val)
c.2419C>G (p.Leu807Val)
c.6445C>G (p.Leu2149Val)
c.2197C>G (p.Leu733Val)
c.5425C>G (p.Leu1809Val)
8g.99717281C>TCA462440268VPS13Bc.6640C>T (p.Leu2214=)
n.6710C>T
c.*2322C>T (n.*2322C>T)
c.6565C>T (p.Leu2189=)
c.6637C>T (p.Leu2213=)
c.6562C>T (p.Leu2188=)
c.6262C>T (p.Leu2088=)
c.3526C>T (p.Leu1176=)
c.2419C>T (p.Leu807=)
c.6445C>T (p.Leu2149=)
c.2197C>T (p.Leu733=)
c.5425C>T (p.Leu1809=)
 ClinVar
8g.99717282T>ACA371867310VPS13Bc.6641T>A (p.Leu2214Gln)
n.6711T>A
c.*2323T>A (n.*2323T>A)
c.6566T>A (p.Leu2189Gln)
c.6638T>A (p.Leu2213Gln)
c.6563T>A (p.Leu2188Gln)
c.6263T>A (p.Leu2088Gln)
c.3527T>A (p.Leu1176Gln)
c.2420T>A (p.Leu807Gln)
c.6446T>A (p.Leu2149Gln)
c.2198T>A (p.Leu733Gln)
c.5426T>A (p.Leu1809Gln)
8g.99717282T>CCA371867311VPS13Bc.6641T>C (p.Leu2214Pro)
n.6711T>C
c.*2323T>C (n.*2323T>C)
c.6566T>C (p.Leu2189Pro)
c.6638T>C (p.Leu2213Pro)
c.6563T>C (p.Leu2188Pro)
c.6263T>C (p.Leu2088Pro)
c.3527T>C (p.Leu1176Pro)
c.2420T>C (p.Leu807Pro)
c.6446T>C (p.Leu2149Pro)
c.2198T>C (p.Leu733Pro)
c.5426T>C (p.Leu1809Pro)
8g.99717282T>GCA4824030VPS13Bc.6641T>G (p.Leu2214Arg)
n.6711T>G
c.*2323T>G (n.*2323T>G)
c.6566T>G (p.Leu2189Arg)
c.6638T>G (p.Leu2213Arg)
c.6563T>G (p.Leu2188Arg)
c.6263T>G (p.Leu2088Arg)
c.3527T>G (p.Leu1176Arg)
c.2420T>G (p.Leu807Arg)
c.6446T>G (p.Leu2149Arg)
c.2198T>G (p.Leu733Arg)
c.5426T>G (p.Leu1809Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717283G>ACA462440269VPS13Bc.6642G>A (p.Leu2214=)
n.6712G>A
c.*2324G>A (n.*2324G>A)
c.6567G>A (p.Leu2189=)
c.6639G>A (p.Leu2213=)
c.6564G>A (p.Leu2188=)
c.6264G>A (p.Leu2088=)
c.3528G>A (p.Leu1176=)
c.2421G>A (p.Leu807=)
c.6447G>A (p.Leu2149=)
c.2199G>A (p.Leu733=)
c.5427G>A (p.Leu1809=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717283G>CCA462440270VPS13Bc.6642G>C (p.Leu2214=)
n.6712G>C
c.*2324G>C (n.*2324G>C)
c.6567G>C (p.Leu2189=)
c.6639G>C (p.Leu2213=)
c.6564G>C (p.Leu2188=)
c.6264G>C (p.Leu2088=)
c.3528G>C (p.Leu1176=)
c.2421G>C (p.Leu807=)
c.6447G>C (p.Leu2149=)
c.2199G>C (p.Leu733=)
c.5427G>C (p.Leu1809=)
8g.99717283G>TCA462440271VPS13Bc.6642G>T (p.Leu2214=)
n.6712G>T
c.*2324G>T (n.*2324G>T)
c.6567G>T (p.Leu2189=)
c.6639G>T (p.Leu2213=)
c.6564G>T (p.Leu2188=)
c.6264G>T (p.Leu2088=)
c.3528G>T (p.Leu1176=)
c.2421G>T (p.Leu807=)
c.6447G>T (p.Leu2149=)
c.2199G>T (p.Leu733=)
c.5427G>T (p.Leu1809=)
8g.99717284G>ACA371867312VPS13Bc.6643G>A (p.Glu2215Lys)
n.6713G>A
c.*2325G>A (n.*2325G>A)
c.6568G>A (p.Glu2190Lys)
c.6640G>A (p.Glu2214Lys)
c.6565G>A (p.Glu2189Lys)
c.6265G>A (p.Glu2089Lys)
c.3529G>A (p.Glu1177Lys)
c.2422G>A (p.Glu808Lys)
c.6448G>A (p.Glu2150Lys)
c.2200G>A (p.Glu734Lys)
c.5428G>A (p.Glu1810Lys)
 gnomAD v4 COSMIC COSMIC
8g.99717284G>CCA371867313VPS13Bc.6643G>C (p.Glu2215Gln)
n.6713G>C
c.*2325G>C (n.*2325G>C)
c.6568G>C (p.Glu2190Gln)
c.6640G>C (p.Glu2214Gln)
c.6565G>C (p.Glu2189Gln)
c.6265G>C (p.Glu2089Gln)
c.3529G>C (p.Glu1177Gln)
c.2422G>C (p.Glu808Gln)
c.6448G>C (p.Glu2150Gln)
c.2200G>C (p.Glu734Gln)
c.5428G>C (p.Glu1810Gln)
8g.99717284G>TCA371867314VPS13Bc.6643G>T (p.Glu2215Ter)
n.6713G>T
c.*2325G>T (n.*2325G>T)
c.6568G>T (p.Glu2190Ter)
c.6640G>T (p.Glu2214Ter)
c.6565G>T (p.Glu2189Ter)
c.6265G>T (p.Glu2089Ter)
c.3529G>T (p.Glu1177Ter)
c.2422G>T (p.Glu808Ter)
c.6448G>T (p.Glu2150Ter)
c.2200G>T (p.Glu734Ter)
c.5428G>T (p.Glu1810Ter)
8g.99717285A>CCA371867315VPS13Bc.6644A>C (p.Glu2215Ala)
n.6714A>C
c.*2326A>C (n.*2326A>C)
c.6569A>C (p.Glu2190Ala)
c.6641A>C (p.Glu2214Ala)
c.6566A>C (p.Glu2189Ala)
c.6266A>C (p.Glu2089Ala)
c.3530A>C (p.Glu1177Ala)
c.2423A>C (p.Glu808Ala)
c.6449A>C (p.Glu2150Ala)
c.2201A>C (p.Glu734Ala)
c.5429A>C (p.Glu1810Ala)
8g.99717285A>GCA371867316VPS13Bc.6644A>G (p.Glu2215Gly)
n.6714A>G
c.*2326A>G (n.*2326A>G)
c.6569A>G (p.Glu2190Gly)
c.6641A>G (p.Glu2214Gly)
c.6566A>G (p.Glu2189Gly)
c.6266A>G (p.Glu2089Gly)
c.3530A>G (p.Glu1177Gly)
c.2423A>G (p.Glu808Gly)
c.6449A>G (p.Glu2150Gly)
c.2201A>G (p.Glu734Gly)
c.5429A>G (p.Glu1810Gly)
 gnomAD v4
8g.99717285A>TCA371867317VPS13Bc.6644A>T (p.Glu2215Val)
n.6714A>T
c.*2326A>T (n.*2326A>T)
c.6569A>T (p.Glu2190Val)
c.6641A>T (p.Glu2214Val)
c.6566A>T (p.Glu2189Val)
c.6266A>T (p.Glu2089Val)
c.3530A>T (p.Glu1177Val)
c.2423A>T (p.Glu808Val)
c.6449A>T (p.Glu2150Val)
c.2201A>T (p.Glu734Val)
c.5429A>T (p.Glu1810Val)
8g.99717286A>CCA371867319VPS13Bc.6645A>C (p.Glu2215Asp)
n.6715A>C
c.*2327A>C (n.*2327A>C)
c.6570A>C (p.Glu2190Asp)
c.6642A>C (p.Glu2214Asp)
c.6567A>C (p.Glu2189Asp)
c.6267A>C (p.Glu2089Asp)
c.3531A>C (p.Glu1177Asp)
c.2424A>C (p.Glu808Asp)
c.6450A>C (p.Glu2150Asp)
c.2202A>C (p.Glu734Asp)
c.5430A>C (p.Glu1810Asp)
8g.99717286A>GCA462440272VPS13Bc.6645A>G (p.Glu2215=)
n.6715A>G
c.*2327A>G (n.*2327A>G)
c.6570A>G (p.Glu2190=)
c.6642A>G (p.Glu2214=)
c.6567A>G (p.Glu2189=)
c.6267A>G (p.Glu2089=)
c.3531A>G (p.Glu1177=)
c.2424A>G (p.Glu808=)
c.6450A>G (p.Glu2150=)
c.2202A>G (p.Glu734=)
c.5430A>G (p.Glu1810=)
 ClinVar dbSNP
8g.99717286A>TCA371867318VPS13Bc.6645A>T (p.Glu2215Asp)
n.6715A>T
c.*2327A>T (n.*2327A>T)
c.6570A>T (p.Glu2190Asp)
c.6642A>T (p.Glu2214Asp)
c.6567A>T (p.Glu2189Asp)
c.6267A>T (p.Glu2089Asp)
c.3531A>T (p.Glu1177Asp)
c.2424A>T (p.Glu808Asp)
c.6450A>T (p.Glu2150Asp)
c.2202A>T (p.Glu734Asp)
c.5430A>T (p.Glu1810Asp)
8g.99717287G>ACA371867320VPS13Bc.6646G>A (p.Ala2216Thr)
n.6716G>A
c.*2328G>A (n.*2328G>A)
c.6571G>A (p.Ala2191Thr)
c.6643G>A (p.Ala2215Thr)
c.6568G>A (p.Ala2190Thr)
c.6268G>A (p.Ala2090Thr)
c.3532G>A (p.Ala1178Thr)
c.2425G>A (p.Ala809Thr)
c.6451G>A (p.Ala2151Thr)
c.2203G>A (p.Ala735Thr)
c.5431G>A (p.Ala1811Thr)
 dbSNP gnomAD v4
8g.99717287G>CCA371867321VPS13Bc.6646G>C (p.Ala2216Pro)
n.6716G>C
c.*2328G>C (n.*2328G>C)
c.6571G>C (p.Ala2191Pro)
c.6643G>C (p.Ala2215Pro)
c.6568G>C (p.Ala2190Pro)
c.6268G>C (p.Ala2090Pro)
c.3532G>C (p.Ala1178Pro)
c.2425G>C (p.Ala809Pro)
c.6451G>C (p.Ala2151Pro)
c.2203G>C (p.Ala735Pro)
c.5431G>C (p.Ala1811Pro)
8g.99717287G>TCA371867322VPS13Bc.6646G>T (p.Ala2216Ser)
n.6716G>T
c.*2328G>T (n.*2328G>T)
c.6571G>T (p.Ala2191Ser)
c.6643G>T (p.Ala2215Ser)
c.6568G>T (p.Ala2190Ser)
c.6268G>T (p.Ala2090Ser)
c.3532G>T (p.Ala1178Ser)
c.2425G>T (p.Ala809Ser)
c.6451G>T (p.Ala2151Ser)
c.2203G>T (p.Ala735Ser)
c.5431G>T (p.Ala1811Ser)
8g.99717288C>ACA371867323VPS13Bc.6647C>A (p.Ala2216Asp)
n.6717C>A
c.*2329C>A (n.*2329C>A)
c.6572C>A (p.Ala2191Asp)
c.6644C>A (p.Ala2215Asp)
c.6569C>A (p.Ala2190Asp)
c.6269C>A (p.Ala2090Asp)
c.3533C>A (p.Ala1178Asp)
c.2426C>A (p.Ala809Asp)
c.6452C>A (p.Ala2151Asp)
c.2204C>A (p.Ala735Asp)
c.5432C>A (p.Ala1811Asp)
8g.99717288C>GCA371867324VPS13Bc.6647C>G (p.Ala2216Gly)
n.6717C>G
c.*2329C>G (n.*2329C>G)
c.6572C>G (p.Ala2191Gly)
c.6644C>G (p.Ala2215Gly)
c.6569C>G (p.Ala2190Gly)
c.6269C>G (p.Ala2090Gly)
c.3533C>G (p.Ala1178Gly)
c.2426C>G (p.Ala809Gly)
c.6452C>G (p.Ala2151Gly)
c.2204C>G (p.Ala735Gly)
c.5432C>G (p.Ala1811Gly)
8g.99717288C>TCA4824031VPS13Bc.6647C>T (p.Ala2216Val)
n.6717C>T
c.*2329C>T (n.*2329C>T)
c.6572C>T (p.Ala2191Val)
c.6644C>T (p.Ala2215Val)
c.6569C>T (p.Ala2190Val)
c.6269C>T (p.Ala2090Val)
c.3533C>T (p.Ala1178Val)
c.2426C>T (p.Ala809Val)
c.6452C>T (p.Ala2151Val)
c.2204C>T (p.Ala735Val)
c.5432C>T (p.Ala1811Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717289T>ACA462440273VPS13Bc.6648T>A (p.Ala2216=)
n.6718T>A
c.*2330T>A (n.*2330T>A)
c.6573T>A (p.Ala2191=)
c.6645T>A (p.Ala2215=)
c.6570T>A (p.Ala2190=)
c.6270T>A (p.Ala2090=)
c.3534T>A (p.Ala1178=)
c.2427T>A (p.Ala809=)
c.6453T>A (p.Ala2151=)
c.2205T>A (p.Ala735=)
c.5433T>A (p.Ala1811=)
8g.99717289T>CCA462440274VPS13Bc.6648T>C (p.Ala2216=)
n.6718T>C
c.*2330T>C (n.*2330T>C)
c.6573T>C (p.Ala2191=)
c.6645T>C (p.Ala2215=)
c.6570T>C (p.Ala2190=)
c.6270T>C (p.Ala2090=)
c.3534T>C (p.Ala1178=)
c.2427T>C (p.Ala809=)
c.6453T>C (p.Ala2151=)
c.2205T>C (p.Ala735=)
c.5433T>C (p.Ala1811=)
 ClinVar
8g.99717289T>GCA462440276VPS13Bc.6648T>G (p.Ala2216=)
n.6718T>G
c.*2330T>G (n.*2330T>G)
c.6573T>G (p.Ala2191=)
c.6645T>G (p.Ala2215=)
c.6570T>G (p.Ala2190=)
c.6270T>G (p.Ala2090=)
c.3534T>G (p.Ala1178=)
c.2427T>G (p.Ala809=)
c.6453T>G (p.Ala2151=)
c.2205T>G (p.Ala735=)
c.5433T>G (p.Ala1811=)
8g.99717290A>CCA371867325VPS13Bc.6649A>C (p.Lys2217Gln)
n.6719A>C
c.*2331A>C (n.*2331A>C)
c.6574A>C (p.Lys2192Gln)
c.6646A>C (p.Lys2216Gln)
c.6571A>C (p.Lys2191Gln)
c.6271A>C (p.Lys2091Gln)
c.3535A>C (p.Lys1179Gln)
c.2428A>C (p.Lys810Gln)
c.6454A>C (p.Lys2152Gln)
c.2206A>C (p.Lys736Gln)
c.5434A>C (p.Lys1812Gln)
8g.99717290A>GCA371867327VPS13Bc.6649A>G (p.Lys2217Glu)
n.6719A>G
c.*2331A>G (n.*2331A>G)
c.6574A>G (p.Lys2192Glu)
c.6646A>G (p.Lys2216Glu)
c.6571A>G (p.Lys2191Glu)
c.6271A>G (p.Lys2091Glu)
c.3535A>G (p.Lys1179Glu)
c.2428A>G (p.Lys810Glu)
c.6454A>G (p.Lys2152Glu)
c.2206A>G (p.Lys736Glu)
c.5434A>G (p.Lys1812Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717290A>TCA371867326VPS13Bc.6649A>T (p.Lys2217Ter)
n.6719A>T
c.*2331A>T (n.*2331A>T)
c.6574A>T (p.Lys2192Ter)
c.6646A>T (p.Lys2216Ter)
c.6571A>T (p.Lys2191Ter)
c.6271A>T (p.Lys2091Ter)
c.3535A>T (p.Lys1179Ter)
c.2428A>T (p.Lys810Ter)
c.6454A>T (p.Lys2152Ter)
c.2206A>T (p.Lys736Ter)
c.5434A>T (p.Lys1812Ter)
 COSMIC COSMIC
8g.99717291delCA2579216047VPS13Bc.6650del (p.Lys2217SerfsTer22)
n.6720del
c.*2332del (n.*2332del)
c.6575del (p.Lys2192SerfsTer22)
c.6647del (p.Lys2216SerfsTer22)
c.6572del (p.Lys2191SerfsTer22)
c.6272del (p.Lys2091SerfsTer22)
c.3536del (p.Lys1179SerfsTer22)
c.2429del (p.Lys810SerfsTer22)
c.6455del (p.Lys2152SerfsTer22)
c.2207del (p.Lys736SerfsTer22)
c.5435del (p.Lys1812SerfsTer22)
8g.99717291A>CCA371867328VPS13Bc.6650A>C (p.Lys2217Thr)
n.6720A>C
c.*2332A>C (n.*2332A>C)
c.6575A>C (p.Lys2192Thr)
c.6647A>C (p.Lys2216Thr)
c.6572A>C (p.Lys2191Thr)
c.6272A>C (p.Lys2091Thr)
c.3536A>C (p.Lys1179Thr)
c.2429A>C (p.Lys810Thr)
c.6455A>C (p.Lys2152Thr)
c.2207A>C (p.Lys736Thr)
c.5435A>C (p.Lys1812Thr)
8g.99717291A>GCA371867329VPS13Bc.6650A>G (p.Lys2217Arg)
n.6720A>G
c.*2332A>G (n.*2332A>G)
c.6575A>G (p.Lys2192Arg)
c.6647A>G (p.Lys2216Arg)
c.6572A>G (p.Lys2191Arg)
c.6272A>G (p.Lys2091Arg)
c.3536A>G (p.Lys1179Arg)
c.2429A>G (p.Lys810Arg)
c.6455A>G (p.Lys2152Arg)
c.2207A>G (p.Lys736Arg)
c.5435A>G (p.Lys1812Arg)
8g.99717291A>TCA371867330VPS13Bc.6650A>T (p.Lys2217Met)
n.6720A>T
c.*2332A>T (n.*2332A>T)
c.6575A>T (p.Lys2192Met)
c.6647A>T (p.Lys2216Met)
c.6572A>T (p.Lys2191Met)
c.6272A>T (p.Lys2091Met)
c.3536A>T (p.Lys1179Met)
c.2429A>T (p.Lys810Met)
c.6455A>T (p.Lys2152Met)
c.2207A>T (p.Lys736Met)
c.5435A>T (p.Lys1812Met)
8g.99717292G>ACA462440277VPS13Bc.6651G>A (p.Lys2217=)
n.6721G>A
c.*2333G>A (n.*2333G>A)
c.6576G>A (p.Lys2192=)
c.6648G>A (p.Lys2216=)
c.6573G>A (p.Lys2191=)
c.6273G>A (p.Lys2091=)
c.3537G>A (p.Lys1179=)
c.2430G>A (p.Lys810=)
c.6456G>A (p.Lys2152=)
c.2208G>A (p.Lys736=)
c.5436G>A (p.Lys1812=)
8g.99717292G>CCA371867331VPS13Bc.6651G>C (p.Lys2217Asn)
n.6721G>C
c.*2333G>C (n.*2333G>C)
c.6576G>C (p.Lys2192Asn)
c.6648G>C (p.Lys2216Asn)
c.6573G>C (p.Lys2191Asn)
c.6273G>C (p.Lys2091Asn)
c.3537G>C (p.Lys1179Asn)
c.2430G>C (p.Lys810Asn)
c.6456G>C (p.Lys2152Asn)
c.2208G>C (p.Lys736Asn)
c.5436G>C (p.Lys1812Asn)
8g.99717292G>TCA371867332VPS13Bc.6651G>T (p.Lys2217Asn)
n.6721G>T
c.*2333G>T (n.*2333G>T)
c.6576G>T (p.Lys2192Asn)
c.6648G>T (p.Lys2216Asn)
c.6573G>T (p.Lys2191Asn)
c.6273G>T (p.Lys2091Asn)
c.3537G>T (p.Lys1179Asn)
c.2430G>T (p.Lys810Asn)
c.6456G>T (p.Lys2152Asn)
c.2208G>T (p.Lys736Asn)
c.5436G>T (p.Lys1812Asn)
8g.99717293T>ACA371867333VPS13Bc.6652T>A (p.Trp2218Arg)
n.6722T>A
c.*2334T>A (n.*2334T>A)
c.6577T>A (p.Trp2193Arg)
c.6649T>A (p.Trp2217Arg)
c.6574T>A (p.Trp2192Arg)
c.6274T>A (p.Trp2092Arg)
c.3538T>A (p.Trp1180Arg)
c.2431T>A (p.Trp811Arg)
c.6457T>A (p.Trp2153Arg)
c.2209T>A (p.Trp737Arg)
c.5437T>A (p.Trp1813Arg)
8g.99717293T>CCA371867334VPS13Bc.6652T>C (p.Trp2218Arg)
n.6722T>C
c.*2334T>C (n.*2334T>C)
c.6577T>C (p.Trp2193Arg)
c.6649T>C (p.Trp2217Arg)
c.6574T>C (p.Trp2192Arg)
c.6274T>C (p.Trp2092Arg)
c.3538T>C (p.Trp1180Arg)
c.2431T>C (p.Trp811Arg)
c.6457T>C (p.Trp2153Arg)
c.2209T>C (p.Trp737Arg)
c.5437T>C (p.Trp1813Arg)
8g.99717293T>GCA371867335VPS13Bc.6652T>G (p.Trp2218Gly)
n.6722T>G
c.*2334T>G (n.*2334T>G)
c.6577T>G (p.Trp2193Gly)
c.6649T>G (p.Trp2217Gly)
c.6574T>G (p.Trp2192Gly)
c.6274T>G (p.Trp2092Gly)
c.3538T>G (p.Trp1180Gly)
c.2431T>G (p.Trp811Gly)
c.6457T>G (p.Trp2153Gly)
c.2209T>G (p.Trp737Gly)
c.5437T>G (p.Trp1813Gly)
8g.99717294G>ACA371867336VPS13Bc.6653G>A (p.Trp2218Ter)
n.6723G>A
c.*2335G>A (n.*2335G>A)
c.6578G>A (p.Trp2193Ter)
c.6650G>A (p.Trp2217Ter)
c.6575G>A (p.Trp2192Ter)
c.6275G>A (p.Trp2092Ter)
c.3539G>A (p.Trp1180Ter)
c.2432G>A (p.Trp811Ter)
c.6458G>A (p.Trp2153Ter)
c.2210G>A (p.Trp737Ter)
c.5438G>A (p.Trp1813Ter)
8g.99717294G>CCA371867337VPS13Bc.6653G>C (p.Trp2218Ser)
n.6723G>C
c.*2335G>C (n.*2335G>C)
c.6578G>C (p.Trp2193Ser)
c.6650G>C (p.Trp2217Ser)
c.6575G>C (p.Trp2192Ser)
c.6275G>C (p.Trp2092Ser)
c.3539G>C (p.Trp1180Ser)
c.2432G>C (p.Trp811Ser)
c.6458G>C (p.Trp2153Ser)
c.2210G>C (p.Trp737Ser)
c.5438G>C (p.Trp1813Ser)
8g.99717294G>TCA371867338VPS13Bc.6653G>T (p.Trp2218Leu)
n.6723G>T
c.*2335G>T (n.*2335G>T)
c.6578G>T (p.Trp2193Leu)
c.6650G>T (p.Trp2217Leu)
c.6575G>T (p.Trp2192Leu)
c.6275G>T (p.Trp2092Leu)
c.3539G>T (p.Trp1180Leu)
c.2432G>T (p.Trp811Leu)
c.6458G>T (p.Trp2153Leu)
c.2210G>T (p.Trp737Leu)
c.5438G>T (p.Trp1813Leu)
8g.99717294_99717295insTACA658822976VPS13Bc.6653_6654insTA (p.Trp2218CysfsTer22)
n.6723_6724insTA
c.*2335_*2336insTA (n.*2335_*2336insTA)
c.6578_6579insTA (p.Trp2193CysfsTer22)
c.6650_6651insTA (p.Trp2217CysfsTer22)
c.6575_6576insTA (p.Trp2192CysfsTer22)
c.6275_6276insTA (p.Trp2092CysfsTer22)
c.3539_3540insTA (p.Trp1180CysfsTer22)
c.2432_2433insTA (p.Trp811CysfsTer22)
c.6458_6459insTA (p.Trp2153CysfsTer22)
c.2210_2211insTA (p.Trp737CysfsTer22)
c.5438_5439insTA (p.Trp1813CysfsTer22)
 ClinVar dbSNP
8g.99717295G>ACA371867340VPS13Bc.6654G>A (p.Trp2218Ter)
n.6724G>A
c.*2336G>A (n.*2336G>A)
c.6579G>A (p.Trp2193Ter)
c.6651G>A (p.Trp2217Ter)
c.6576G>A (p.Trp2192Ter)
c.6276G>A (p.Trp2092Ter)
c.3540G>A (p.Trp1180Ter)
c.2433G>A (p.Trp811Ter)
c.6459G>A (p.Trp2153Ter)
c.2211G>A (p.Trp737Ter)
c.5439G>A (p.Trp1813Ter)
8g.99717295G>CCA371867339VPS13Bc.6654G>C (p.Trp2218Cys)
n.6724G>C
c.*2336G>C (n.*2336G>C)
c.6579G>C (p.Trp2193Cys)
c.6651G>C (p.Trp2217Cys)
c.6576G>C (p.Trp2192Cys)
c.6276G>C (p.Trp2092Cys)
c.3540G>C (p.Trp1180Cys)
c.2433G>C (p.Trp811Cys)
c.6459G>C (p.Trp2153Cys)
c.2211G>C (p.Trp737Cys)
c.5439G>C (p.Trp1813Cys)
 ClinVar dbSNP gnomAD v4
8g.99717295G>TCA4824032VPS13Bc.6654G>T (p.Trp2218Cys)
n.6724G>T
c.*2336G>T (n.*2336G>T)
c.6579G>T (p.Trp2193Cys)
c.6651G>T (p.Trp2217Cys)
c.6576G>T (p.Trp2192Cys)
c.6276G>T (p.Trp2092Cys)
c.3540G>T (p.Trp1180Cys)
c.2433G>T (p.Trp811Cys)
c.6459G>T (p.Trp2153Cys)
c.2211G>T (p.Trp737Cys)
c.5439G>T (p.Trp1813Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717296T>ACA371867341VPS13Bc.6655T>A (p.Cys2219Ser)
n.6725T>A
c.*2337T>A (n.*2337T>A)
c.6580T>A (p.Cys2194Ser)
c.6652T>A (p.Cys2218Ser)
c.6577T>A (p.Cys2193Ser)
c.6277T>A (p.Cys2093Ser)
c.3541T>A (p.Cys1181Ser)
c.2434T>A (p.Cys812Ser)
c.6460T>A (p.Cys2154Ser)
c.2212T>A (p.Cys738Ser)
c.5440T>A (p.Cys1814Ser)
8g.99717296T>CCA371867342VPS13Bc.6655T>C (p.Cys2219Arg)
n.6725T>C
c.*2337T>C (n.*2337T>C)
c.6580T>C (p.Cys2194Arg)
c.6652T>C (p.Cys2218Arg)
c.6577T>C (p.Cys2193Arg)
c.6277T>C (p.Cys2093Arg)
c.3541T>C (p.Cys1181Arg)
c.2434T>C (p.Cys812Arg)
c.6460T>C (p.Cys2154Arg)
c.2212T>C (p.Cys738Arg)
c.5440T>C (p.Cys1814Arg)
8g.99717296T>GCA371867343VPS13Bc.6655T>G (p.Cys2219Gly)
n.6725T>G
c.*2337T>G (n.*2337T>G)
c.6580T>G (p.Cys2194Gly)
c.6652T>G (p.Cys2218Gly)
c.6577T>G (p.Cys2193Gly)
c.6277T>G (p.Cys2093Gly)
c.3541T>G (p.Cys1181Gly)
c.2434T>G (p.Cys812Gly)
c.6460T>G (p.Cys2154Gly)
c.2212T>G (p.Cys738Gly)
c.5440T>G (p.Cys1814Gly)
8g.99717297G>ACA4824033VPS13Bc.6656G>A (p.Cys2219Tyr)
n.6726G>A
c.*2338G>A (n.*2338G>A)
c.6581G>A (p.Cys2194Tyr)
c.6653G>A (p.Cys2218Tyr)
c.6578G>A (p.Cys2193Tyr)
c.6278G>A (p.Cys2093Tyr)
c.3542G>A (p.Cys1181Tyr)
c.2435G>A (p.Cys812Tyr)
c.6461G>A (p.Cys2154Tyr)
c.2213G>A (p.Cys738Tyr)
c.5441G>A (p.Cys1814Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717297G>CCA371867344VPS13Bc.6656G>C (p.Cys2219Ser)
n.6726G>C
c.*2338G>C (n.*2338G>C)
c.6581G>C (p.Cys2194Ser)
c.6653G>C (p.Cys2218Ser)
c.6578G>C (p.Cys2193Ser)
c.6278G>C (p.Cys2093Ser)
c.3542G>C (p.Cys1181Ser)
c.2435G>C (p.Cys812Ser)
c.6461G>C (p.Cys2154Ser)
c.2213G>C (p.Cys738Ser)
c.5441G>C (p.Cys1814Ser)
8g.99717297G>TCA371867345VPS13Bc.6656G>T (p.Cys2219Phe)
n.6726G>T
c.*2338G>T (n.*2338G>T)
c.6581G>T (p.Cys2194Phe)
c.6653G>T (p.Cys2218Phe)
c.6578G>T (p.Cys2193Phe)
c.6278G>T (p.Cys2093Phe)
c.3542G>T (p.Cys1181Phe)
c.2435G>T (p.Cys812Phe)
c.6461G>T (p.Cys2154Phe)
c.2213G>T (p.Cys738Phe)
c.5441G>T (p.Cys1814Phe)
 gnomAD v4
8g.99717298T>ACA371867346VPS13Bc.6657T>A (p.Cys2219Ter)
n.6727T>A
c.*2339T>A (n.*2339T>A)
c.6582T>A (p.Cys2194Ter)
c.6654T>A (p.Cys2218Ter)
c.6579T>A (p.Cys2193Ter)
c.6279T>A (p.Cys2093Ter)
c.3543T>A (p.Cys1181Ter)
c.2436T>A (p.Cys812Ter)
c.6462T>A (p.Cys2154Ter)
c.2214T>A (p.Cys738Ter)
c.5442T>A (p.Cys1814Ter)
8g.99717298T>CCA462440279VPS13Bc.6657T>C (p.Cys2219=)
n.6727T>C
c.*2339T>C (n.*2339T>C)
c.6582T>C (p.Cys2194=)
c.6654T>C (p.Cys2218=)
c.6579T>C (p.Cys2193=)
c.6279T>C (p.Cys2093=)
c.3543T>C (p.Cys1181=)
c.2436T>C (p.Cys812=)
c.6462T>C (p.Cys2154=)
c.2214T>C (p.Cys738=)
c.5442T>C (p.Cys1814=)
8g.99717298T>GCA371867347VPS13Bc.6657T>G (p.Cys2219Trp)
n.6727T>G
c.*2339T>G (n.*2339T>G)
c.6582T>G (p.Cys2194Trp)
c.6654T>G (p.Cys2218Trp)
c.6579T>G (p.Cys2193Trp)
c.6279T>G (p.Cys2093Trp)
c.3543T>G (p.Cys1181Trp)
c.2436T>G (p.Cys812Trp)
c.6462T>G (p.Cys2154Trp)
c.2214T>G (p.Cys738Trp)
c.5442T>G (p.Cys1814Trp)
8g.99717299A>CCA371867348VPS13Bc.6658A>C (p.Lys2220Gln)
n.6728A>C
c.*2340A>C (n.*2340A>C)
c.6583A>C (p.Lys2195Gln)
c.6655A>C (p.Lys2219Gln)
c.6580A>C (p.Lys2194Gln)
c.6280A>C (p.Lys2094Gln)
c.3544A>C (p.Lys1182Gln)
c.2437A>C (p.Lys813Gln)
c.6463A>C (p.Lys2155Gln)
c.2215A>C (p.Lys739Gln)
c.5443A>C (p.Lys1815Gln)
8g.99717299A>GCA371867349VPS13Bc.6658A>G (p.Lys2220Glu)
n.6728A>G
c.*2340A>G (n.*2340A>G)
c.6583A>G (p.Lys2195Glu)
c.6655A>G (p.Lys2219Glu)
c.6580A>G (p.Lys2194Glu)
c.6280A>G (p.Lys2094Glu)
c.3544A>G (p.Lys1182Glu)
c.2437A>G (p.Lys813Glu)
c.6463A>G (p.Lys2155Glu)
c.2215A>G (p.Lys739Glu)
c.5443A>G (p.Lys1815Glu)
8g.99717299A>TCA371867350VPS13Bc.6658A>T (p.Lys2220Ter)
n.6728A>T
c.*2340A>T (n.*2340A>T)
c.6583A>T (p.Lys2195Ter)
c.6655A>T (p.Lys2219Ter)
c.6580A>T (p.Lys2194Ter)
c.6280A>T (p.Lys2094Ter)
c.3544A>T (p.Lys1182Ter)
c.2437A>T (p.Lys813Ter)
c.6463A>T (p.Lys2155Ter)
c.2215A>T (p.Lys739Ter)
c.5443A>T (p.Lys1815Ter)
8g.99717300A>CCA371867351VPS13Bc.6659A>C (p.Lys2220Thr)
n.6729A>C
c.*2341A>C (n.*2341A>C)
c.6584A>C (p.Lys2195Thr)
c.6656A>C (p.Lys2219Thr)
c.6581A>C (p.Lys2194Thr)
c.6281A>C (p.Lys2094Thr)
c.3545A>C (p.Lys1182Thr)
c.2438A>C (p.Lys813Thr)
c.6464A>C (p.Lys2155Thr)
c.2216A>C (p.Lys739Thr)
c.5444A>C (p.Lys1815Thr)
8g.99717300A>GCA371867352VPS13Bc.6659A>G (p.Lys2220Arg)
n.6729A>G
c.*2341A>G (n.*2341A>G)
c.6584A>G (p.Lys2195Arg)
c.6656A>G (p.Lys2219Arg)
c.6581A>G (p.Lys2194Arg)
c.6281A>G (p.Lys2094Arg)
c.3545A>G (p.Lys1182Arg)
c.2438A>G (p.Lys813Arg)
c.6464A>G (p.Lys2155Arg)
c.2216A>G (p.Lys739Arg)
c.5444A>G (p.Lys1815Arg)
8g.99717300A>TCA371867353VPS13Bc.6659A>T (p.Lys2220Ile)
n.6729A>T
c.*2341A>T (n.*2341A>T)
c.6584A>T (p.Lys2195Ile)
c.6656A>T (p.Lys2219Ile)
c.6581A>T (p.Lys2194Ile)
c.6281A>T (p.Lys2094Ile)
c.3545A>T (p.Lys1182Ile)
c.2438A>T (p.Lys813Ile)
c.6464A>T (p.Lys2155Ile)
c.2216A>T (p.Lys739Ile)
c.5444A>T (p.Lys1815Ile)
8g.99717301A>CCA371867355VPS13Bc.6660A>C (p.Lys2220Asn)
n.6730A>C
c.*2342A>C (n.*2342A>C)
c.6585A>C (p.Lys2195Asn)
c.6657A>C (p.Lys2219Asn)
c.6582A>C (p.Lys2194Asn)
c.6282A>C (p.Lys2094Asn)
c.3546A>C (p.Lys1182Asn)
c.2439A>C (p.Lys813Asn)
c.6465A>C (p.Lys2155Asn)
c.2217A>C (p.Lys739Asn)
c.5445A>C (p.Lys1815Asn)
8g.99717301A>GCA462440280VPS13Bc.6660A>G (p.Lys2220=)
n.6730A>G
c.*2342A>G (n.*2342A>G)
c.6585A>G (p.Lys2195=)
c.6657A>G (p.Lys2219=)
c.6582A>G (p.Lys2194=)
c.6282A>G (p.Lys2094=)
c.3546A>G (p.Lys1182=)
c.2439A>G (p.Lys813=)
c.6465A>G (p.Lys2155=)
c.2217A>G (p.Lys739=)
c.5445A>G (p.Lys1815=)
8g.99717301A>TCA371867354VPS13Bc.6660A>T (p.Lys2220Asn)
n.6730A>T
c.*2342A>T (n.*2342A>T)
c.6585A>T (p.Lys2195Asn)
c.6657A>T (p.Lys2219Asn)
c.6582A>T (p.Lys2194Asn)
c.6282A>T (p.Lys2094Asn)
c.3546A>T (p.Lys1182Asn)
c.2439A>T (p.Lys813Asn)
c.6465A>T (p.Lys2155Asn)
c.2217A>T (p.Lys739Asn)
c.5445A>T (p.Lys1815Asn)
8g.99717302C>ACA371867356VPS13Bc.6661C>A (p.His2221Asn)
n.6731C>A
c.*2343C>A (n.*2343C>A)
c.6586C>A (p.His2196Asn)
c.6658C>A (p.His2220Asn)
c.6583C>A (p.His2195Asn)
c.6283C>A (p.His2095Asn)
c.3547C>A (p.His1183Asn)
c.2440C>A (p.His814Asn)
c.6466C>A (p.His2156Asn)
c.2218C>A (p.His740Asn)
c.5446C>A (p.His1816Asn)
8g.99717302C>GCA371867357VPS13Bc.6661C>G (p.His2221Asp)
n.6731C>G
c.*2343C>G (n.*2343C>G)
c.6586C>G (p.His2196Asp)
c.6658C>G (p.His2220Asp)
c.6583C>G (p.His2195Asp)
c.6283C>G (p.His2095Asp)
c.3547C>G (p.His1183Asp)
c.2440C>G (p.His814Asp)
c.6466C>G (p.His2156Asp)
c.2218C>G (p.His740Asp)
c.5446C>G (p.His1816Asp)
8g.99717302C>TCA371867358VPS13Bc.6661C>T (p.His2221Tyr)
n.6731C>T
c.*2343C>T (n.*2343C>T)
c.6586C>T (p.His2196Tyr)
c.6658C>T (p.His2220Tyr)
c.6583C>T (p.His2195Tyr)
c.6283C>T (p.His2095Tyr)
c.3547C>T (p.His1183Tyr)
c.2440C>T (p.His814Tyr)
c.6466C>T (p.His2156Tyr)
c.2218C>T (p.His740Tyr)
c.5446C>T (p.His1816Tyr)
8g.99717303A>CCA371867359VPS13Bc.6662A>C (p.His2221Pro)
n.6732A>C
c.*2344A>C (n.*2344A>C)
c.6587A>C (p.His2196Pro)
c.6659A>C (p.His2220Pro)
c.6584A>C (p.His2195Pro)
c.6284A>C (p.His2095Pro)
c.3548A>C (p.His1183Pro)
c.2441A>C (p.His814Pro)
c.6467A>C (p.His2156Pro)
c.2219A>C (p.His740Pro)
c.5447A>C (p.His1816Pro)
8g.99717303A>GCA371867360VPS13Bc.6662A>G (p.His2221Arg)
n.6732A>G
c.*2344A>G (n.*2344A>G)
c.6587A>G (p.His2196Arg)
c.6659A>G (p.His2220Arg)
c.6584A>G (p.His2195Arg)
c.6284A>G (p.His2095Arg)
c.3548A>G (p.His1183Arg)
c.2441A>G (p.His814Arg)
c.6467A>G (p.His2156Arg)
c.2219A>G (p.His740Arg)
c.5447A>G (p.His1816Arg)
8g.99717303A>TCA371867361VPS13Bc.6662A>T (p.His2221Leu)
n.6732A>T
c.*2344A>T (n.*2344A>T)
c.6587A>T (p.His2196Leu)
c.6659A>T (p.His2220Leu)
c.6584A>T (p.His2195Leu)
c.6284A>T (p.His2095Leu)
c.3548A>T (p.His1183Leu)
c.2441A>T (p.His814Leu)
c.6467A>T (p.His2156Leu)
c.2219A>T (p.His740Leu)
c.5447A>T (p.His1816Leu)
8g.99717304C>ACA371867363VPS13Bc.6663C>A (p.His2221Gln)
n.6733C>A
c.*2345C>A (n.*2345C>A)
c.6588C>A (p.His2196Gln)
c.6660C>A (p.His2220Gln)
c.6585C>A (p.His2195Gln)
c.6285C>A (p.His2095Gln)
c.3549C>A (p.His1183Gln)
c.2442C>A (p.His814Gln)
c.6468C>A (p.His2156Gln)
c.2220C>A (p.His740Gln)
c.5448C>A (p.His1816Gln)
8g.99717304C>GCA371867362VPS13Bc.6663C>G (p.His2221Gln)
n.6733C>G
c.*2345C>G (n.*2345C>G)
c.6588C>G (p.His2196Gln)
c.6660C>G (p.His2220Gln)
c.6585C>G (p.His2195Gln)
c.6285C>G (p.His2095Gln)
c.3549C>G (p.His1183Gln)
c.2442C>G (p.His814Gln)
c.6468C>G (p.His2156Gln)
c.2220C>G (p.His740Gln)
c.5448C>G (p.His1816Gln)
8g.99717304C>TCA462440281VPS13Bc.6663C>T (p.His2221=)
n.6733C>T
c.*2345C>T (n.*2345C>T)
c.6588C>T (p.His2196=)
c.6660C>T (p.His2220=)
c.6585C>T (p.His2195=)
c.6285C>T (p.His2095=)
c.3549C>T (p.His1183=)
c.2442C>T (p.His814=)
c.6468C>T (p.His2156=)
c.2220C>T (p.His740=)
c.5448C>T (p.His1816=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99717305A>CCA371867364VPS13Bc.6664A>C (p.Ser2222Arg)
n.6734A>C
c.*2346A>C (n.*2346A>C)
c.6589A>C (p.Ser2197Arg)
c.6661A>C (p.Ser2221Arg)
c.6586A>C (p.Ser2196Arg)
c.6286A>C (p.Ser2096Arg)
c.3550A>C (p.Ser1184Arg)
c.2443A>C (p.Ser815Arg)
c.6469A>C (p.Ser2157Arg)
c.2221A>C (p.Ser741Arg)
c.5449A>C (p.Ser1817Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717305A>GCA371867365VPS13Bc.6664A>G (p.Ser2222Gly)
n.6734A>G
c.*2346A>G (n.*2346A>G)
c.6589A>G (p.Ser2197Gly)
c.6661A>G (p.Ser2221Gly)
c.6586A>G (p.Ser2196Gly)
c.6286A>G (p.Ser2096Gly)
c.3550A>G (p.Ser1184Gly)
c.2443A>G (p.Ser815Gly)
c.6469A>G (p.Ser2157Gly)
c.2221A>G (p.Ser741Gly)
c.5449A>G (p.Ser1817Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.99717305A>TCA371867366VPS13Bc.6664A>T (p.Ser2222Cys)
n.6734A>T
c.*2346A>T (n.*2346A>T)
c.6589A>T (p.Ser2197Cys)
c.6661A>T (p.Ser2221Cys)
c.6586A>T (p.Ser2196Cys)
c.6286A>T (p.Ser2096Cys)
c.3550A>T (p.Ser1184Cys)
c.2443A>T (p.Ser815Cys)
c.6469A>T (p.Ser2157Cys)
c.2221A>T (p.Ser741Cys)
c.5449A>T (p.Ser1817Cys)
8g.99717306G>ACA371867367VPS13Bc.6665G>A (p.Ser2222Asn)
n.6735G>A
c.*2347G>A (n.*2347G>A)
c.6590G>A (p.Ser2197Asn)
c.6662G>A (p.Ser2221Asn)
c.6587G>A (p.Ser2196Asn)
c.6287G>A (p.Ser2096Asn)
c.3551G>A (p.Ser1184Asn)
c.2444G>A (p.Ser815Asn)
c.6470G>A (p.Ser2157Asn)
c.2222G>A (p.Ser741Asn)
c.5450G>A (p.Ser1817Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.99717306G>CCA371867368VPS13Bc.6665G>C (p.Ser2222Thr)
n.6735G>C
c.*2347G>C (n.*2347G>C)
c.6590G>C (p.Ser2197Thr)
c.6662G>C (p.Ser2221Thr)
c.6587G>C (p.Ser2196Thr)
c.6287G>C (p.Ser2096Thr)
c.3551G>C (p.Ser1184Thr)
c.2444G>C (p.Ser815Thr)
c.6470G>C (p.Ser2157Thr)
c.2222G>C (p.Ser741Thr)
c.5450G>C (p.Ser1817Thr)
8g.99717306G>TCA371867369VPS13Bc.6665G>T (p.Ser2222Ile)
n.6735G>T
c.*2347G>T (n.*2347G>T)
c.6590G>T (p.Ser2197Ile)
c.6662G>T (p.Ser2221Ile)
c.6587G>T (p.Ser2196Ile)
c.6287G>T (p.Ser2096Ile)
c.3551G>T (p.Ser1184Ile)
c.2444G>T (p.Ser815Ile)
c.6470G>T (p.Ser2157Ile)
c.2222G>T (p.Ser741Ile)
c.5450G>T (p.Ser1817Ile)
8g.99717307C>ACA371867370VPS13Bc.6666C>A (p.Ser2222Arg)
n.6736C>A
c.*2348C>A (n.*2348C>A)
c.6591C>A (p.Ser2197Arg)
c.6663C>A (p.Ser2221Arg)
c.6588C>A (p.Ser2196Arg)
c.6288C>A (p.Ser2096Arg)
c.3552C>A (p.Ser1184Arg)
c.2445C>A (p.Ser815Arg)
c.6471C>A (p.Ser2157Arg)
c.2223C>A (p.Ser741Arg)
c.5451C>A (p.Ser1817Arg)
8g.99717307C>GCA371867371VPS13Bc.6666C>G (p.Ser2222Arg)
n.6736C>G
c.*2348C>G (n.*2348C>G)
c.6591C>G (p.Ser2197Arg)
c.6663C>G (p.Ser2221Arg)
c.6588C>G (p.Ser2196Arg)
c.6288C>G (p.Ser2096Arg)
c.3552C>G (p.Ser1184Arg)
c.2445C>G (p.Ser815Arg)
c.6471C>G (p.Ser2157Arg)
c.2223C>G (p.Ser741Arg)
c.5451C>G (p.Ser1817Arg)
8g.99717307C>TCA4824034VPS13Bc.6666C>T (p.Ser2222=)
n.6736C>T
c.*2348C>T (n.*2348C>T)
c.6591C>T (p.Ser2197=)
c.6663C>T (p.Ser2221=)
c.6588C>T (p.Ser2196=)
c.6288C>T (p.Ser2096=)
c.3552C>T (p.Ser1184=)
c.2445C>T (p.Ser815=)
c.6471C>T (p.Ser2157=)
c.2223C>T (p.Ser741=)
c.5451C>T (p.Ser1817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717308G>ACA4824035VPS13Bc.6667G>A (p.Gly2223Arg)
n.6737G>A
c.*2349G>A (n.*2349G>A)
c.6592G>A (p.Gly2198Arg)
c.6664G>A (p.Gly2222Arg)
c.6589G>A (p.Gly2197Arg)
c.6289G>A (p.Gly2097Arg)
c.3553G>A (p.Gly1185Arg)
c.2446G>A (p.Gly816Arg)
c.6472G>A (p.Gly2158Arg)
c.2224G>A (p.Gly742Arg)
c.5452G>A (p.Gly1818Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99717308G>CCA371867372VPS13Bc.6667G>C (p.Gly2223Arg)
n.6737G>C
c.*2349G>C (n.*2349G>C)
c.6592G>C (p.Gly2198Arg)
c.6664G>C (p.Gly2222Arg)
c.6589G>C (p.Gly2197Arg)
c.6289G>C (p.Gly2097Arg)
c.3553G>C (p.Gly1185Arg)
c.2446G>C (p.Gly816Arg)
c.6472G>C (p.Gly2158Arg)
c.2224G>C (p.Gly742Arg)
c.5452G>C (p.Gly1818Arg)
8g.99717308G>TCA371867373VPS13Bc.6667G>T (p.Gly2223Trp)
n.6737G>T
c.*2349G>T (n.*2349G>T)
c.6592G>T (p.Gly2198Trp)
c.6664G>T (p.Gly2222Trp)
c.6589G>T (p.Gly2197Trp)
c.6289G>T (p.Gly2097Trp)
c.3553G>T (p.Gly1185Trp)
c.2446G>T (p.Gly816Trp)
c.6472G>T (p.Gly2158Trp)
c.2224G>T (p.Gly742Trp)
c.5452G>T (p.Gly1818Trp)
8g.99717310dupCA183029001VPS13Bc.6669dup (p.Asn2224GlufsTer14)
n.6739dup
c.*2351dup (n.*2351dup)
c.6594dup (p.Asn2199GlufsTer14)
c.6666dup (p.Asn2223GlufsTer14)
c.6591dup (p.Asn2198GlufsTer14)
c.6291dup (p.Asn2098GlufsTer14)
c.3555dup (p.Asn1186GlufsTer14)
c.2448dup (p.Asn817GlufsTer14)
c.6474dup (p.Asn2159GlufsTer14)
c.2226dup (p.Asn743GlufsTer14)
c.5454dup (p.Asn1819GlufsTer14)
 dbSNP
8g.99717309G>ACA371867374VPS13Bc.6668G>A (p.Gly2223Glu)
n.6738G>A
c.*2350G>A (n.*2350G>A)
c.6593G>A (p.Gly2198Glu)
c.6665G>A (p.Gly2222Glu)
c.6590G>A (p.Gly2197Glu)
c.6290G>A (p.Gly2097Glu)
c.3554G>A (p.Gly1185Glu)
c.2447G>A (p.Gly816Glu)
c.6473G>A (p.Gly2158Glu)
c.2225G>A (p.Gly742Glu)
c.5453G>A (p.Gly1818Glu)
 gnomAD v4
8g.99717309G>CCA371867375VPS13Bc.6668G>C (p.Gly2223Ala)
n.6738G>C
c.*2350G>C (n.*2350G>C)
c.6593G>C (p.Gly2198Ala)
c.6665G>C (p.Gly2222Ala)
c.6590G>C (p.Gly2197Ala)
c.6290G>C (p.Gly2097Ala)
c.3554G>C (p.Gly1185Ala)
c.2447G>C (p.Gly816Ala)
c.6473G>C (p.Gly2158Ala)
c.2225G>C (p.Gly742Ala)
c.5453G>C (p.Gly1818Ala)
8g.99717309G>TCA371867376VPS13Bc.6668G>T (p.Gly2223Val)
n.6738G>T
c.*2350G>T (n.*2350G>T)
c.6593G>T (p.Gly2198Val)
c.6665G>T (p.Gly2222Val)
c.6590G>T (p.Gly2197Val)
c.6290G>T (p.Gly2097Val)
c.3554G>T (p.Gly1185Val)
c.2447G>T (p.Gly816Val)
c.6473G>T (p.Gly2158Val)
c.2225G>T (p.Gly742Val)
c.5453G>T (p.Gly1818Val)
8g.99717310G>ACA462440282VPS13Bc.6669G>A (p.Gly2223=)
n.6739G>A
c.*2351G>A (n.*2351G>A)
c.6594G>A (p.Gly2198=)
c.6666G>A (p.Gly2222=)
c.6591G>A (p.Gly2197=)
c.6291G>A (p.Gly2097=)
c.3555G>A (p.Gly1185=)
c.2448G>A (p.Gly816=)
c.6474G>A (p.Gly2158=)
c.2226G>A (p.Gly742=)
c.5454G>A (p.Gly1818=)
 ClinVar dbSNP COSMIC COSMIC
8g.99717310G>CCA462440283VPS13Bc.6669G>C (p.Gly2223=)
n.6739G>C
c.*2351G>C (n.*2351G>C)
c.6594G>C (p.Gly2198=)
c.6666G>C (p.Gly2222=)
c.6591G>C (p.Gly2197=)
c.6291G>C (p.Gly2097=)
c.3555G>C (p.Gly1185=)
c.2448G>C (p.Gly816=)
c.6474G>C (p.Gly2158=)
c.2226G>C (p.Gly742=)
c.5454G>C (p.Gly1818=)
8g.99717310G>TCA462440284VPS13Bc.6669G>T (p.Gly2223=)
n.6739G>T
c.*2351G>T (n.*2351G>T)
c.6594G>T (p.Gly2198=)
c.6666G>T (p.Gly2222=)
c.6591G>T (p.Gly2197=)
c.6291G>T (p.Gly2097=)
c.3555G>T (p.Gly1185=)
c.2448G>T (p.Gly816=)
c.6474G>T (p.Gly2158=)
c.2226G>T (p.Gly742=)
c.5454G>T (p.Gly1818=)
8g.99717311A>CCA371867377VPS13Bc.6670A>C (p.Asn2224His)
n.6740A>C
c.*2352A>C (n.*2352A>C)
c.6595A>C (p.Asn2199His)
c.6667A>C (p.Asn2223His)
c.6592A>C (p.Asn2198His)
c.6292A>C (p.Asn2098His)
c.3556A>C (p.Asn1186His)
c.2449A>C (p.Asn817His)
c.6475A>C (p.Asn2159His)
c.2227A>C (p.Asn743His)
c.5455A>C (p.Asn1819His)
8g.99717311A>GCA371867378VPS13Bc.6670A>G (p.Asn2224Asp)
n.6740A>G
c.*2352A>G (n.*2352A>G)
c.6595A>G (p.Asn2199Asp)
c.6667A>G (p.Asn2223Asp)
c.6592A>G (p.Asn2198Asp)
c.6292A>G (p.Asn2098Asp)
c.3556A>G (p.Asn1186Asp)
c.2449A>G (p.Asn817Asp)
c.6475A>G (p.Asn2159Asp)
c.2227A>G (p.Asn743Asp)
c.5455A>G (p.Asn1819Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.99717311A>TCA371867379VPS13Bc.6670A>T (p.Asn2224Tyr)
n.6740A>T
c.*2352A>T (n.*2352A>T)
c.6595A>T (p.Asn2199Tyr)
c.6667A>T (p.Asn2223Tyr)
c.6592A>T (p.Asn2198Tyr)
c.6292A>T (p.Asn2098Tyr)
c.3556A>T (p.Asn1186Tyr)
c.2449A>T (p.Asn817Tyr)
c.6475A>T (p.Asn2159Tyr)
c.2227A>T (p.Asn743Tyr)
c.5455A>T (p.Asn1819Tyr)
8g.99717312A>CCA371867380VPS13Bc.6671A>C (p.Asn2224Thr)
n.6741A>C
c.*2353A>C (n.*2353A>C)
c.6596A>C (p.Asn2199Thr)
c.6668A>C (p.Asn2223Thr)
c.6593A>C (p.Asn2198Thr)
c.6293A>C (p.Asn2098Thr)
c.3557A>C (p.Asn1186Thr)
c.2450A>C (p.Asn817Thr)
c.6476A>C (p.Asn2159Thr)
c.2228A>C (p.Asn743Thr)
c.5456A>C (p.Asn1819Thr)
8g.99717312A>GCA4824036VPS13Bc.6671A>G (p.Asn2224Ser)
n.6741A>G
c.*2353A>G (n.*2353A>G)
c.6596A>G (p.Asn2199Ser)
c.6668A>G (p.Asn2223Ser)
c.6593A>G (p.Asn2198Ser)
c.6293A>G (p.Asn2098Ser)
c.3557A>G (p.Asn1186Ser)
c.2450A>G (p.Asn817Ser)
c.6476A>G (p.Asn2159Ser)
c.2228A>G (p.Asn743Ser)
c.5456A>G (p.Asn1819Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717312A>TCA371867381VPS13Bc.6671A>T (p.Asn2224Ile)
n.6741A>T
c.*2353A>T (n.*2353A>T)
c.6596A>T (p.Asn2199Ile)
c.6668A>T (p.Asn2223Ile)
c.6593A>T (p.Asn2198Ile)
c.6293A>T (p.Asn2098Ile)
c.3557A>T (p.Asn1186Ile)
c.2450A>T (p.Asn817Ile)
c.6476A>T (p.Asn2159Ile)
c.2228A>T (p.Asn743Ile)
c.5456A>T (p.Asn1819Ile)
8g.99717313T>ACA371867383VPS13Bc.6672T>A (p.Asn2224Lys)
n.6742T>A
c.*2354T>A (n.*2354T>A)
c.6597T>A (p.Asn2199Lys)
c.6669T>A (p.Asn2223Lys)
c.6594T>A (p.Asn2198Lys)
c.6294T>A (p.Asn2098Lys)
c.3558T>A (p.Asn1186Lys)
c.2451T>A (p.Asn817Lys)
c.6477T>A (p.Asn2159Lys)
c.2229T>A (p.Asn743Lys)
c.5457T>A (p.Asn1819Lys)
8g.99717313T>CCA462440285VPS13Bc.6672T>C (p.Asn2224=)
n.6742T>C
c.*2354T>C (n.*2354T>C)
c.6597T>C (p.Asn2199=)
c.6669T>C (p.Asn2223=)
c.6594T>C (p.Asn2198=)
c.6294T>C (p.Asn2098=)
c.3558T>C (p.Asn1186=)
c.2451T>C (p.Asn817=)
c.6477T>C (p.Asn2159=)
c.2229T>C (p.Asn743=)
c.5457T>C (p.Asn1819=)
8g.99717313T>GCA371867382VPS13Bc.6672T>G (p.Asn2224Lys)
n.6742T>G
c.*2354T>G (n.*2354T>G)
c.6597T>G (p.Asn2199Lys)
c.6669T>G (p.Asn2223Lys)
c.6594T>G (p.Asn2198Lys)
c.6294T>G (p.Asn2098Lys)
c.3558T>G (p.Asn1186Lys)
c.2451T>G (p.Asn817Lys)
c.6477T>G (p.Asn2159Lys)
c.2229T>G (p.Asn743Lys)
c.5457T>G (p.Asn1819Lys)
8g.99717314C>ACA371867384VPS13Bc.6673C>A (p.Pro2225Thr)
n.6743C>A
c.*2355C>A (n.*2355C>A)
c.6598C>A (p.Pro2200Thr)
c.6670C>A (p.Pro2224Thr)
c.6595C>A (p.Pro2199Thr)
c.6295C>A (p.Pro2099Thr)
c.3559C>A (p.Pro1187Thr)
c.2452C>A (p.Pro818Thr)
c.6478C>A (p.Pro2160Thr)
c.2230C>A (p.Pro744Thr)
c.5458C>A (p.Pro1820Thr)
8g.99717314C>GCA4824037VPS13Bc.6673C>G (p.Pro2225Ala)
n.6743C>G
c.*2355C>G (n.*2355C>G)
c.6598C>G (p.Pro2200Ala)
c.6670C>G (p.Pro2224Ala)
c.6595C>G (p.Pro2199Ala)
c.6295C>G (p.Pro2099Ala)
c.3559C>G (p.Pro1187Ala)
c.2452C>G (p.Pro818Ala)
c.6478C>G (p.Pro2160Ala)
c.2230C>G (p.Pro744Ala)
c.5458C>G (p.Pro1820Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717314C>TCA371867385VPS13Bc.6673C>T (p.Pro2225Ser)
n.6743C>T
c.*2355C>T (n.*2355C>T)
c.6598C>T (p.Pro2200Ser)
c.6670C>T (p.Pro2224Ser)
c.6595C>T (p.Pro2199Ser)
c.6295C>T (p.Pro2099Ser)
c.3559C>T (p.Pro1187Ser)
c.2452C>T (p.Pro818Ser)
c.6478C>T (p.Pro2160Ser)
c.2230C>T (p.Pro744Ser)
c.5458C>T (p.Pro1820Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.99717315C>ACA371867386VPS13Bc.6674C>A (p.Pro2225Gln)
n.6744C>A
c.*2356C>A (n.*2356C>A)
c.6599C>A (p.Pro2200Gln)
c.6671C>A (p.Pro2224Gln)
c.6596C>A (p.Pro2199Gln)
c.6296C>A (p.Pro2099Gln)
c.3560C>A (p.Pro1187Gln)
c.2453C>A (p.Pro818Gln)
c.6479C>A (p.Pro2160Gln)
c.2231C>A (p.Pro744Gln)
c.5459C>A (p.Pro1820Gln)
8g.99717315C>GCA371867387VPS13Bc.6674C>G (p.Pro2225Arg)
n.6744C>G
c.*2356C>G (n.*2356C>G)
c.6599C>G (p.Pro2200Arg)
c.6671C>G (p.Pro2224Arg)
c.6596C>G (p.Pro2199Arg)
c.6296C>G (p.Pro2099Arg)
c.3560C>G (p.Pro1187Arg)
c.2453C>G (p.Pro818Arg)
c.6479C>G (p.Pro2160Arg)
c.2231C>G (p.Pro744Arg)
c.5459C>G (p.Pro1820Arg)
 COSMIC COSMIC
8g.99717315C>TCA371867388VPS13Bc.6674C>T (p.Pro2225Leu)
n.6744C>T
c.*2356C>T (n.*2356C>T)
c.6599C>T (p.Pro2200Leu)
c.6671C>T (p.Pro2224Leu)
c.6596C>T (p.Pro2199Leu)
c.6296C>T (p.Pro2099Leu)
c.3560C>T (p.Pro1187Leu)
c.2453C>T (p.Pro818Leu)
c.6479C>T (p.Pro2160Leu)
c.2231C>T (p.Pro744Leu)
c.5459C>T (p.Pro1820Leu)
8g.99717316A>CCA462440286VPS13Bc.6675A>C (p.Pro2225=)
n.6745A>C
c.*2357A>C (n.*2357A>C)
c.6600A>C (p.Pro2200=)
c.6672A>C (p.Pro2224=)
c.6597A>C (p.Pro2199=)
c.6297A>C (p.Pro2099=)
c.3561A>C (p.Pro1187=)
c.2454A>C (p.Pro818=)
c.6480A>C (p.Pro2160=)
c.2232A>C (p.Pro744=)
c.5460A>C (p.Pro1820=)
 ClinVar dbSNP
8g.99717316A>GCA462440287VPS13Bc.6675A>G (p.Pro2225=)
n.6745A>G
c.*2357A>G (n.*2357A>G)
c.6600A>G (p.Pro2200=)
c.6672A>G (p.Pro2224=)
c.6597A>G (p.Pro2199=)
c.6297A>G (p.Pro2099=)
c.3561A>G (p.Pro1187=)
c.2454A>G (p.Pro818=)
c.6480A>G (p.Pro2160=)
c.2232A>G (p.Pro744=)
c.5460A>G (p.Pro1820=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717316A>TCA462440288VPS13Bc.6675A>T (p.Pro2225=)
n.6745A>T
c.*2357A>T (n.*2357A>T)
c.6600A>T (p.Pro2200=)
c.6672A>T (p.Pro2224=)
c.6597A>T (p.Pro2199=)
c.6297A>T (p.Pro2099=)
c.3561A>T (p.Pro1187=)
c.2454A>T (p.Pro818=)
c.6480A>T (p.Pro2160=)
c.2232A>T (p.Pro744=)
c.5460A>T (p.Pro1820=)
 gnomAD v4
8g.99717317G>ACA371867389VPS13Bc.6676G>A (p.Gly2226Ser)
n.6746G>A
c.*2358G>A (n.*2358G>A)
c.6601G>A (p.Gly2201Ser)
c.6673G>A (p.Gly2225Ser)
c.6598G>A (p.Gly2200Ser)
c.6298G>A (p.Gly2100Ser)
c.3562G>A (p.Gly1188Ser)
c.2455G>A (p.Gly819Ser)
c.6481G>A (p.Gly2161Ser)
c.2233G>A (p.Gly745Ser)
c.5461G>A (p.Gly1821Ser)
8g.99717317G>CCA371867390VPS13Bc.6676G>C (p.Gly2226Arg)
n.6746G>C
c.*2358G>C (n.*2358G>C)
c.6601G>C (p.Gly2201Arg)
c.6673G>C (p.Gly2225Arg)
c.6598G>C (p.Gly2200Arg)
c.6298G>C (p.Gly2100Arg)
c.3562G>C (p.Gly1188Arg)
c.2455G>C (p.Gly819Arg)
c.6481G>C (p.Gly2161Arg)
c.2233G>C (p.Gly745Arg)
c.5461G>C (p.Gly1821Arg)
8g.99717317G>TCA371867391VPS13Bc.6676G>T (p.Gly2226Cys)
n.6746G>T
c.*2358G>T (n.*2358G>T)
c.6601G>T (p.Gly2201Cys)
c.6673G>T (p.Gly2225Cys)
c.6598G>T (p.Gly2200Cys)
c.6298G>T (p.Gly2100Cys)
c.3562G>T (p.Gly1188Cys)
c.2455G>T (p.Gly819Cys)
c.6481G>T (p.Gly2161Cys)
c.2233G>T (p.Gly745Cys)
c.5461G>T (p.Gly1821Cys)
 COSMIC COSMIC
8g.99717318G>ACA183029006VPS13Bc.6677G>A (p.Gly2226Asp)
n.6747G>A
c.*2359G>A (n.*2359G>A)
c.6602G>A (p.Gly2201Asp)
c.6674G>A (p.Gly2225Asp)
c.6599G>A (p.Gly2200Asp)
c.6299G>A (p.Gly2100Asp)
c.3563G>A (p.Gly1188Asp)
c.2456G>A (p.Gly819Asp)
c.6482G>A (p.Gly2161Asp)
c.2234G>A (p.Gly745Asp)
c.5462G>A (p.Gly1821Asp)
 dbSNP gnomAD v4
8g.99717318G>CCA371867392VPS13Bc.6677G>C (p.Gly2226Ala)
n.6747G>C
c.*2359G>C (n.*2359G>C)
c.6602G>C (p.Gly2201Ala)
c.6674G>C (p.Gly2225Ala)
c.6599G>C (p.Gly2200Ala)
c.6299G>C (p.Gly2100Ala)
c.3563G>C (p.Gly1188Ala)
c.2456G>C (p.Gly819Ala)
c.6482G>C (p.Gly2161Ala)
c.2234G>C (p.Gly745Ala)
c.5462G>C (p.Gly1821Ala)
8g.99717318G>TCA4824038VPS13Bc.6677G>T (p.Gly2226Val)
n.6747G>T
c.*2359G>T (n.*2359G>T)
c.6602G>T (p.Gly2201Val)
c.6674G>T (p.Gly2225Val)
c.6599G>T (p.Gly2200Val)
c.6299G>T (p.Gly2100Val)
c.3563G>T (p.Gly1188Val)
c.2456G>T (p.Gly819Val)
c.6482G>T (p.Gly2161Val)
c.2234G>T (p.Gly745Val)
c.5462G>T (p.Gly1821Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717319C>ACA462440289VPS13Bc.6678C>A (p.Gly2226=)
n.6748C>A
c.*2360C>A (n.*2360C>A)
c.6603C>A (p.Gly2201=)
c.6675C>A (p.Gly2225=)
c.6600C>A (p.Gly2200=)
c.6300C>A (p.Gly2100=)
c.3564C>A (p.Gly1188=)
c.2457C>A (p.Gly819=)
c.6483C>A (p.Gly2161=)
c.2235C>A (p.Gly745=)
c.5463C>A (p.Gly1821=)
8g.99717319C>GCA462440290VPS13Bc.6678C>G (p.Gly2226=)
n.6748C>G
c.*2360C>G (n.*2360C>G)
c.6603C>G (p.Gly2201=)
c.6675C>G (p.Gly2225=)
c.6600C>G (p.Gly2200=)
c.6300C>G (p.Gly2100=)
c.3564C>G (p.Gly1188=)
c.2457C>G (p.Gly819=)
c.6483C>G (p.Gly2161=)
c.2235C>G (p.Gly745=)
c.5463C>G (p.Gly1821=)
8g.99717319C>TCA462440291VPS13Bc.6678C>T (p.Gly2226=)
n.6748C>T
c.*2360C>T (n.*2360C>T)
c.6603C>T (p.Gly2201=)
c.6675C>T (p.Gly2225=)
c.6600C>T (p.Gly2200=)
c.6300C>T (p.Gly2100=)
c.3564C>T (p.Gly1188=)
c.2457C>T (p.Gly819=)
c.6483C>T (p.Gly2161=)
c.2235C>T (p.Gly745=)
c.5463C>T (p.Gly1821=)
8g.99717320C>ACA371867393VPS13Bc.6679C>A (p.Pro2227Thr)
n.6749C>A
c.*2361C>A (n.*2361C>A)
c.6604C>A (p.Pro2202Thr)
c.6676C>A (p.Pro2226Thr)
c.6601C>A (p.Pro2201Thr)
c.6301C>A (p.Pro2101Thr)
c.3565C>A (p.Pro1189Thr)
c.2458C>A (p.Pro820Thr)
c.6484C>A (p.Pro2162Thr)
c.2236C>A (p.Pro746Thr)
c.5464C>A (p.Pro1822Thr)
8g.99717320C>GCA371867395VPS13Bc.6679C>G (p.Pro2227Ala)
n.6749C>G
c.*2361C>G (n.*2361C>G)
c.6604C>G (p.Pro2202Ala)
c.6676C>G (p.Pro2226Ala)
c.6601C>G (p.Pro2201Ala)
c.6301C>G (p.Pro2101Ala)
c.3565C>G (p.Pro1189Ala)
c.2458C>G (p.Pro820Ala)
c.6484C>G (p.Pro2162Ala)
c.2236C>G (p.Pro746Ala)
c.5464C>G (p.Pro1822Ala)
8g.99717320C>TCA371867394VPS13Bc.6679C>T (p.Pro2227Ser)
n.6749C>T
c.*2361C>T (n.*2361C>T)
c.6604C>T (p.Pro2202Ser)
c.6676C>T (p.Pro2226Ser)
c.6601C>T (p.Pro2201Ser)
c.6301C>T (p.Pro2101Ser)
c.3565C>T (p.Pro1189Ser)
c.2458C>T (p.Pro820Ser)
c.6484C>T (p.Pro2162Ser)
c.2236C>T (p.Pro746Ser)
c.5464C>T (p.Pro1822Ser)
8g.99717321C>ACA371867396VPS13Bc.6680C>A (p.Pro2227Gln)
n.6750C>A
c.*2362C>A (n.*2362C>A)
c.6605C>A (p.Pro2202Gln)
c.6677C>A (p.Pro2226Gln)
c.6602C>A (p.Pro2201Gln)
c.6302C>A (p.Pro2101Gln)
c.3566C>A (p.Pro1189Gln)
c.2459C>A (p.Pro820Gln)
c.6485C>A (p.Pro2162Gln)
c.2237C>A (p.Pro746Gln)
c.5465C>A (p.Pro1822Gln)
8g.99717321C>GCA371867397VPS13Bc.6680C>G (p.Pro2227Arg)
n.6750C>G
c.*2362C>G (n.*2362C>G)
c.6605C>G (p.Pro2202Arg)
c.6677C>G (p.Pro2226Arg)
c.6602C>G (p.Pro2201Arg)
c.6302C>G (p.Pro2101Arg)
c.3566C>G (p.Pro1189Arg)
c.2459C>G (p.Pro820Arg)
c.6485C>G (p.Pro2162Arg)
c.2237C>G (p.Pro746Arg)
c.5465C>G (p.Pro1822Arg)
8g.99717321C>TCA371867398VPS13Bc.6680C>T (p.Pro2227Leu)
n.6750C>T
c.*2362C>T (n.*2362C>T)
c.6605C>T (p.Pro2202Leu)
c.6677C>T (p.Pro2226Leu)
c.6602C>T (p.Pro2201Leu)
c.6302C>T (p.Pro2101Leu)
c.3566C>T (p.Pro1189Leu)
c.2459C>T (p.Pro820Leu)
c.6485C>T (p.Pro2162Leu)
c.2237C>T (p.Pro746Leu)
c.5465C>T (p.Pro1822Leu)
8g.99717322A>CCA462440294VPS13Bc.6681A>C (p.Pro2227=)
n.6751A>C
c.*2363A>C (n.*2363A>C)
c.6606A>C (p.Pro2202=)
c.6678A>C (p.Pro2226=)
c.6603A>C (p.Pro2201=)
c.6303A>C (p.Pro2101=)
c.3567A>C (p.Pro1189=)
c.2460A>C (p.Pro820=)
c.6486A>C (p.Pro2162=)
c.2238A>C (p.Pro746=)
c.5466A>C (p.Pro1822=)
8g.99717322A>GCA462440295VPS13Bc.6681A>G (p.Pro2227=)
n.6751A>G
c.*2363A>G (n.*2363A>G)
c.6606A>G (p.Pro2202=)
c.6678A>G (p.Pro2226=)
c.6603A>G (p.Pro2201=)
c.6303A>G (p.Pro2101=)
c.3567A>G (p.Pro1189=)
c.2460A>G (p.Pro820=)
c.6486A>G (p.Pro2162=)
c.2238A>G (p.Pro746=)
c.5466A>G (p.Pro1822=)
 gnomAD v4
8g.99717322A>TCA462440293VPS13Bc.6681A>T (p.Pro2227=)
n.6751A>T
c.*2363A>T (n.*2363A>T)
c.6606A>T (p.Pro2202=)
c.6678A>T (p.Pro2226=)
c.6603A>T (p.Pro2201=)
c.6303A>T (p.Pro2101=)
c.3567A>T (p.Pro1189=)
c.2460A>T (p.Pro820=)
c.6486A>T (p.Pro2162=)
c.2238A>T (p.Pro746=)
c.5466A>T (p.Pro1822=)
8g.99717323G>ACA4824039VPS13Bc.6682G>A (p.Glu2228Lys)
n.6752G>A
c.*2364G>A (n.*2364G>A)
c.6607G>A (p.Glu2203Lys)
c.6679G>A (p.Glu2227Lys)
c.6604G>A (p.Glu2202Lys)
c.6304G>A (p.Glu2102Lys)
c.3568G>A (p.Glu1190Lys)
c.2461G>A (p.Glu821Lys)
c.6487G>A (p.Glu2163Lys)
c.2239G>A (p.Glu747Lys)
c.5467G>A (p.Glu1823Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717323G>CCA371867399VPS13Bc.6682G>C (p.Glu2228Gln)
n.6752G>C
c.*2364G>C (n.*2364G>C)
c.6607G>C (p.Glu2203Gln)
c.6679G>C (p.Glu2227Gln)
c.6604G>C (p.Glu2202Gln)
c.6304G>C (p.Glu2102Gln)
c.3568G>C (p.Glu1190Gln)
c.2461G>C (p.Glu821Gln)
c.6487G>C (p.Glu2163Gln)
c.2239G>C (p.Glu747Gln)
c.5467G>C (p.Glu1823Gln)
 COSMIC COSMIC
8g.99717323G>TCA371867400VPS13Bc.6682G>T (p.Glu2228Ter)
n.6752G>T
c.*2364G>T (n.*2364G>T)
c.6607G>T (p.Glu2203Ter)
c.6679G>T (p.Glu2227Ter)
c.6604G>T (p.Glu2202Ter)
c.6304G>T (p.Glu2102Ter)
c.3568G>T (p.Glu1190Ter)
c.2461G>T (p.Glu821Ter)
c.6487G>T (p.Glu2163Ter)
c.2239G>T (p.Glu747Ter)
c.5467G>T (p.Glu1823Ter)
 COSMIC COSMIC
8g.99717324A>CCA371867403VPS13Bc.6683A>C (p.Glu2228Ala)
n.6753A>C
c.*2365A>C (n.*2365A>C)
c.6608A>C (p.Glu2203Ala)
c.6680A>C (p.Glu2227Ala)
c.6605A>C (p.Glu2202Ala)
c.6305A>C (p.Glu2102Ala)
c.3569A>C (p.Glu1190Ala)
c.2462A>C (p.Glu821Ala)
c.6488A>C (p.Glu2163Ala)
c.2240A>C (p.Glu747Ala)
c.5468A>C (p.Glu1823Ala)
8g.99717324A>GCA371867401VPS13Bc.6683A>G (p.Glu2228Gly)
n.6753A>G
c.*2365A>G (n.*2365A>G)
c.6608A>G (p.Glu2203Gly)
c.6680A>G (p.Glu2227Gly)
c.6605A>G (p.Glu2202Gly)
c.6305A>G (p.Glu2102Gly)
c.3569A>G (p.Glu1190Gly)
c.2462A>G (p.Glu821Gly)
c.6488A>G (p.Glu2163Gly)
c.2240A>G (p.Glu747Gly)
c.5468A>G (p.Glu1823Gly)
8g.99717324A>TCA371867402VPS13Bc.6683A>T (p.Glu2228Val)
n.6753A>T
c.*2365A>T (n.*2365A>T)
c.6608A>T (p.Glu2203Val)
c.6680A>T (p.Glu2227Val)
c.6605A>T (p.Glu2202Val)
c.6305A>T (p.Glu2102Val)
c.3569A>T (p.Glu1190Val)
c.2462A>T (p.Glu821Val)
c.6488A>T (p.Glu2163Val)
c.2240A>T (p.Glu747Val)
c.5468A>T (p.Glu1823Val)
8g.99717325A>CCA371867404VPS13Bc.6684A>C (p.Glu2228Asp)
n.6754A>C
c.*2366A>C (n.*2366A>C)
c.6609A>C (p.Glu2203Asp)
c.6681A>C (p.Glu2227Asp)
c.6606A>C (p.Glu2202Asp)
c.6306A>C (p.Glu2102Asp)
c.3570A>C (p.Glu1190Asp)
c.2463A>C (p.Glu821Asp)
c.6489A>C (p.Glu2163Asp)
c.2241A>C (p.Glu747Asp)
c.5469A>C (p.Glu1823Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717325A>GCA462440296VPS13Bc.6684A>G (p.Glu2228=)
n.6754A>G
c.*2366A>G (n.*2366A>G)
c.6609A>G (p.Glu2203=)
c.6681A>G (p.Glu2227=)
c.6606A>G (p.Glu2202=)
c.6306A>G (p.Glu2102=)
c.3570A>G (p.Glu1190=)
c.2463A>G (p.Glu821=)
c.6489A>G (p.Glu2163=)
c.2241A>G (p.Glu747=)
c.5469A>G (p.Glu1823=)
8g.99717325A>TCA371867405VPS13Bc.6684A>T (p.Glu2228Asp)
n.6754A>T
c.*2366A>T (n.*2366A>T)
c.6609A>T (p.Glu2203Asp)
c.6681A>T (p.Glu2227Asp)
c.6606A>T (p.Glu2202Asp)
c.6306A>T (p.Glu2102Asp)
c.3570A>T (p.Glu1190Asp)
c.2463A>T (p.Glu821Asp)
c.6489A>T (p.Glu2163Asp)
c.2241A>T (p.Glu747Asp)
c.5469A>T (p.Glu1823Asp)
8g.99717326C>ACA371867406VPS13Bc.6685C>A (p.Gln2229Lys)
n.6755C>A
c.*2367C>A (n.*2367C>A)
c.6610C>A (p.Gln2204Lys)
c.6682C>A (p.Gln2228Lys)
c.6607C>A (p.Gln2203Lys)
c.6307C>A (p.Gln2103Lys)
c.3571C>A (p.Gln1191Lys)
c.2464C>A (p.Gln822Lys)
c.6490C>A (p.Gln2164Lys)
c.2242C>A (p.Gln748Lys)
c.5470C>A (p.Gln1824Lys)
 dbSNP
8g.99717326C>GCA371867407VPS13Bc.6685C>G (p.Gln2229Glu)
n.6755C>G
c.*2367C>G (n.*2367C>G)
c.6610C>G (p.Gln2204Glu)
c.6682C>G (p.Gln2228Glu)
c.6607C>G (p.Gln2203Glu)
c.6307C>G (p.Gln2103Glu)
c.3571C>G (p.Gln1191Glu)
c.2464C>G (p.Gln822Glu)
c.6490C>G (p.Gln2164Glu)
c.2242C>G (p.Gln748Glu)
c.5470C>G (p.Gln1824Glu)
8g.99717326C>TCA371867408VPS13Bc.6685C>T (p.Gln2229Ter)
n.6755C>T
c.*2367C>T (n.*2367C>T)
c.6610C>T (p.Gln2204Ter)
c.6682C>T (p.Gln2228Ter)
c.6607C>T (p.Gln2203Ter)
c.6307C>T (p.Gln2103Ter)
c.3571C>T (p.Gln1191Ter)
c.2464C>T (p.Gln822Ter)
c.6490C>T (p.Gln2164Ter)
c.2242C>T (p.Gln748Ter)
c.5470C>T (p.Gln1824Ter)
 dbSNP gnomAD v4
8g.99717327A>CCA371867411VPS13Bc.6686A>C (p.Gln2229Pro)
n.6756A>C
c.*2368A>C (n.*2368A>C)
c.6611A>C (p.Gln2204Pro)
c.6683A>C (p.Gln2228Pro)
c.6608A>C (p.Gln2203Pro)
c.6308A>C (p.Gln2103Pro)
c.3572A>C (p.Gln1191Pro)
c.2465A>C (p.Gln822Pro)
c.6491A>C (p.Gln2164Pro)
c.2243A>C (p.Gln748Pro)
c.5471A>C (p.Gln1824Pro)
8g.99717327A>GCA371867409VPS13Bc.6686A>G (p.Gln2229Arg)
n.6756A>G
c.*2368A>G (n.*2368A>G)
c.6611A>G (p.Gln2204Arg)
c.6683A>G (p.Gln2228Arg)
c.6608A>G (p.Gln2203Arg)
c.6308A>G (p.Gln2103Arg)
c.3572A>G (p.Gln1191Arg)
c.2465A>G (p.Gln822Arg)
c.6491A>G (p.Gln2164Arg)
c.2243A>G (p.Gln748Arg)
c.5471A>G (p.Gln1824Arg)
 gnomAD v4
8g.99717327A>TCA371867410VPS13Bc.6686A>T (p.Gln2229Leu)
n.6756A>T
c.*2368A>T (n.*2368A>T)
c.6611A>T (p.Gln2204Leu)
c.6683A>T (p.Gln2228Leu)
c.6608A>T (p.Gln2203Leu)
c.6308A>T (p.Gln2103Leu)
c.3572A>T (p.Gln1191Leu)
c.2465A>T (p.Gln822Leu)
c.6491A>T (p.Gln2164Leu)
c.2243A>T (p.Gln748Leu)
c.5471A>T (p.Gln1824Leu)
8g.99717328delCA264112VPS13Bc.6687del (p.Gln2229HisfsTer10)
n.6757del
c.*2369del (n.*2369del)
c.6612del (p.Gln2204HisfsTer10)
c.6684del (p.Gln2228HisfsTer10)
c.6609del (p.Gln2203HisfsTer10)
c.6309del (p.Gln2103HisfsTer10)
c.3573del (p.Gln1191HisfsTer10)
c.2466del (p.Gln822HisfsTer10)
c.6492del (p.Gln2164HisfsTer10)
c.2244del (p.Gln748HisfsTer10)
c.5472del (p.Gln1824HisfsTer10)
 ClinVar dbSNP
8g.99717328A>CCA371867412VPS13Bc.6687A>C (p.Gln2229His)
n.6757A>C
c.*2369A>C (n.*2369A>C)
c.6612A>C (p.Gln2204His)
c.6684A>C (p.Gln2228His)
c.6609A>C (p.Gln2203His)
c.6309A>C (p.Gln2103His)
c.3573A>C (p.Gln1191His)
c.2466A>C (p.Gln822His)
c.6492A>C (p.Gln2164His)
c.2244A>C (p.Gln748His)
c.5472A>C (p.Gln1824His)
8g.99717328A>GCA4824040VPS13Bc.6687A>G (p.Gln2229=)
n.6757A>G
c.*2369A>G (n.*2369A>G)
c.6612A>G (p.Gln2204=)
c.6684A>G (p.Gln2228=)
c.6609A>G (p.Gln2203=)
c.6309A>G (p.Gln2103=)
c.3573A>G (p.Gln1191=)
c.2466A>G (p.Gln822=)
c.6492A>G (p.Gln2164=)
c.2244A>G (p.Gln748=)
c.5472A>G (p.Gln1824=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717328A>TCA371867413VPS13Bc.6687A>T (p.Gln2229His)
n.6757A>T
c.*2369A>T (n.*2369A>T)
c.6612A>T (p.Gln2204His)
c.6684A>T (p.Gln2228His)
c.6609A>T (p.Gln2203His)
c.6309A>T (p.Gln2103His)
c.3573A>T (p.Gln1191His)
c.2466A>T (p.Gln822His)
c.6492A>T (p.Gln2164His)
c.2244A>T (p.Gln748His)
c.5472A>T (p.Gln1824His)
8g.99717329T>ACA371867414VPS13Bc.6688T>A (p.Ser2230Thr)
n.6758T>A
c.*2370T>A (n.*2370T>A)
c.6613T>A (p.Ser2205Thr)
c.6685T>A (p.Ser2229Thr)
c.6610T>A (p.Ser2204Thr)
c.6310T>A (p.Ser2104Thr)
c.3574T>A (p.Ser1192Thr)
c.2467T>A (p.Ser823Thr)
c.6493T>A (p.Ser2165Thr)
c.2245T>A (p.Ser749Thr)
c.5473T>A (p.Ser1825Thr)
8g.99717329T>CCA371867415VPS13Bc.6688T>C (p.Ser2230Pro)
n.6758T>C
c.*2370T>C (n.*2370T>C)
c.6613T>C (p.Ser2205Pro)
c.6685T>C (p.Ser2229Pro)
c.6610T>C (p.Ser2204Pro)
c.6310T>C (p.Ser2104Pro)
c.3574T>C (p.Ser1192Pro)
c.2467T>C (p.Ser823Pro)
c.6493T>C (p.Ser2165Pro)
c.2245T>C (p.Ser749Pro)
c.5473T>C (p.Ser1825Pro)
8g.99717329T>GCA371867416VPS13Bc.6688T>G (p.Ser2230Ala)
n.6758T>G
c.*2370T>G (n.*2370T>G)
c.6613T>G (p.Ser2205Ala)
c.6685T>G (p.Ser2229Ala)
c.6610T>G (p.Ser2204Ala)
c.6310T>G (p.Ser2104Ala)
c.3574T>G (p.Ser1192Ala)
c.2467T>G (p.Ser823Ala)
c.6493T>G (p.Ser2165Ala)
c.2245T>G (p.Ser749Ala)
c.5473T>G (p.Ser1825Ala)
8g.99717330C>ACA371867417VPS13Bc.6689C>A (p.Ser2230Tyr)
n.6759C>A
c.*2371C>A (n.*2371C>A)
c.6614C>A (p.Ser2205Tyr)
c.6686C>A (p.Ser2229Tyr)
c.6611C>A (p.Ser2204Tyr)
c.6311C>A (p.Ser2104Tyr)
c.3575C>A (p.Ser1192Tyr)
c.2468C>A (p.Ser823Tyr)
c.6494C>A (p.Ser2165Tyr)
c.2246C>A (p.Ser749Tyr)
c.5474C>A (p.Ser1825Tyr)
8g.99717330C>GCA371867418VPS13Bc.6689C>G (p.Ser2230Cys)
n.6759C>G
c.*2371C>G (n.*2371C>G)
c.6614C>G (p.Ser2205Cys)
c.6686C>G (p.Ser2229Cys)
c.6611C>G (p.Ser2204Cys)
c.6311C>G (p.Ser2104Cys)
c.3575C>G (p.Ser1192Cys)
c.2468C>G (p.Ser823Cys)
c.6494C>G (p.Ser2165Cys)
c.2246C>G (p.Ser749Cys)
c.5474C>G (p.Ser1825Cys)
8g.99717330C>TCA371867419VPS13Bc.6689C>T (p.Ser2230Phe)
n.6759C>T
c.*2371C>T (n.*2371C>T)
c.6614C>T (p.Ser2205Phe)
c.6686C>T (p.Ser2229Phe)
c.6611C>T (p.Ser2204Phe)
c.6311C>T (p.Ser2104Phe)
c.3575C>T (p.Ser1192Phe)
c.2468C>T (p.Ser823Phe)
c.6494C>T (p.Ser2165Phe)
c.2246C>T (p.Ser749Phe)
c.5474C>T (p.Ser1825Phe)
8g.99717331C>ACA462440297VPS13Bc.6690C>A (p.Ser2230=)
n.6760C>A
c.*2372C>A (n.*2372C>A)
c.6615C>A (p.Ser2205=)
c.6687C>A (p.Ser2229=)
c.6612C>A (p.Ser2204=)
c.6312C>A (p.Ser2104=)
c.3576C>A (p.Ser1192=)
c.2469C>A (p.Ser823=)
c.6495C>A (p.Ser2165=)
c.2247C>A (p.Ser749=)
c.5475C>A (p.Ser1825=)
8g.99717331C>GCA462440298VPS13Bc.6690C>G (p.Ser2230=)
n.6760C>G
c.*2372C>G (n.*2372C>G)
c.6615C>G (p.Ser2205=)
c.6687C>G (p.Ser2229=)
c.6612C>G (p.Ser2204=)
c.6312C>G (p.Ser2104=)
c.3576C>G (p.Ser1192=)
c.2469C>G (p.Ser823=)
c.6495C>G (p.Ser2165=)
c.2247C>G (p.Ser749=)
c.5475C>G (p.Ser1825=)
8g.99717331C>TCA462440299VPS13Bc.6690C>T (p.Ser2230=)
n.6760C>T
c.*2372C>T (n.*2372C>T)
c.6615C>T (p.Ser2205=)
c.6687C>T (p.Ser2229=)
c.6612C>T (p.Ser2204=)
c.6312C>T (p.Ser2104=)
c.3576C>T (p.Ser1192=)
c.2469C>T (p.Ser823=)
c.6495C>T (p.Ser2165=)
c.2247C>T (p.Ser749=)
c.5475C>T (p.Ser1825=)
8g.99717332A>CCA371867420VPS13Bc.6691A>C (p.Ile2231Leu)
n.6761A>C
c.*2373A>C (n.*2373A>C)
c.6616A>C (p.Ile2206Leu)
c.6688A>C (p.Ile2230Leu)
c.6613A>C (p.Ile2205Leu)
c.6313A>C (p.Ile2105Leu)
c.3577A>C (p.Ile1193Leu)
c.2470A>C (p.Ile824Leu)
c.6496A>C (p.Ile2166Leu)
c.2248A>C (p.Ile750Leu)
c.5476A>C (p.Ile1826Leu)
8g.99717332A>GCA371867421VPS13Bc.6691A>G (p.Ile2231Val)
n.6761A>G
c.*2373A>G (n.*2373A>G)
c.6616A>G (p.Ile2206Val)
c.6688A>G (p.Ile2230Val)
c.6613A>G (p.Ile2205Val)
c.6313A>G (p.Ile2105Val)
c.3577A>G (p.Ile1193Val)
c.2470A>G (p.Ile824Val)
c.6496A>G (p.Ile2166Val)
c.2248A>G (p.Ile750Val)
c.5476A>G (p.Ile1826Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99717332A>TCA371867422VPS13Bc.6691A>T (p.Ile2231Leu)
n.6761A>T
c.*2373A>T (n.*2373A>T)
c.6616A>T (p.Ile2206Leu)
c.6688A>T (p.Ile2230Leu)
c.6613A>T (p.Ile2205Leu)
c.6313A>T (p.Ile2105Leu)
c.3577A>T (p.Ile1193Leu)
c.2470A>T (p.Ile824Leu)
c.6496A>T (p.Ile2166Leu)
c.2248A>T (p.Ile750Leu)
c.5476A>T (p.Ile1826Leu)
8g.99717333T>ACA371867425VPS13Bc.6692T>A (p.Ile2231Lys)
n.6762T>A
c.*2374T>A (n.*2374T>A)
c.6617T>A (p.Ile2206Lys)
c.6689T>A (p.Ile2230Lys)
c.6614T>A (p.Ile2205Lys)
c.6314T>A (p.Ile2105Lys)
c.3578T>A (p.Ile1193Lys)
c.2471T>A (p.Ile824Lys)
c.6497T>A (p.Ile2166Lys)
c.2249T>A (p.Ile750Lys)
c.5477T>A (p.Ile1826Lys)
8g.99717333T>CCA371867423VPS13Bc.6692T>C (p.Ile2231Thr)
n.6762T>C
c.*2374T>C (n.*2374T>C)
c.6617T>C (p.Ile2206Thr)
c.6689T>C (p.Ile2230Thr)
c.6614T>C (p.Ile2205Thr)
c.6314T>C (p.Ile2105Thr)
c.3578T>C (p.Ile1193Thr)
c.2471T>C (p.Ile824Thr)
c.6497T>C (p.Ile2166Thr)
c.2249T>C (p.Ile750Thr)
c.5477T>C (p.Ile1826Thr)
8g.99717333T>GCA371867424VPS13Bc.6692T>G (p.Ile2231Arg)
n.6762T>G
c.*2374T>G (n.*2374T>G)
c.6617T>G (p.Ile2206Arg)
c.6689T>G (p.Ile2230Arg)
c.6614T>G (p.Ile2205Arg)
c.6314T>G (p.Ile2105Arg)
c.3578T>G (p.Ile1193Arg)
c.2471T>G (p.Ile824Arg)
c.6497T>G (p.Ile2166Arg)
c.2249T>G (p.Ile750Arg)
c.5477T>G (p.Ile1826Arg)
8g.99717334A>CCA462440300VPS13Bc.6693A>C (p.Ile2231=)
n.6763A>C
c.*2375A>C (n.*2375A>C)
c.6618A>C (p.Ile2206=)
c.6690A>C (p.Ile2230=)
c.6615A>C (p.Ile2205=)
c.6315A>C (p.Ile2105=)
c.3579A>C (p.Ile1193=)
c.2472A>C (p.Ile824=)
c.6498A>C (p.Ile2166=)
c.2250A>C (p.Ile750=)
c.5478A>C (p.Ile1826=)
8g.99717334A>GCA371867426VPS13Bc.6693A>G (p.Ile2231Met)
n.6763A>G
c.*2375A>G (n.*2375A>G)
c.6618A>G (p.Ile2206Met)
c.6690A>G (p.Ile2230Met)
c.6615A>G (p.Ile2205Met)
c.6315A>G (p.Ile2105Met)
c.3579A>G (p.Ile1193Met)
c.2472A>G (p.Ile824Met)
c.6498A>G (p.Ile2166Met)
c.2250A>G (p.Ile750Met)
c.5478A>G (p.Ile1826Met)
8g.99717334A>TCA462440301VPS13Bc.6693A>T (p.Ile2231=)
n.6763A>T
c.*2375A>T (n.*2375A>T)
c.6618A>T (p.Ile2206=)
c.6690A>T (p.Ile2230=)
c.6615A>T (p.Ile2205=)
c.6315A>T (p.Ile2105=)
c.3579A>T (p.Ile1193=)
c.2472A>T (p.Ile824=)
c.6498A>T (p.Ile2166=)
c.2250A>T (p.Ile750=)
c.5478A>T (p.Ile1826=)
8g.99717335C>ACA371867427VPS13Bc.6694C>A (p.Pro2232Thr)
n.6764C>A
c.*2376C>A (n.*2376C>A)
c.6619C>A (p.Pro2207Thr)
c.6691C>A (p.Pro2231Thr)
c.6616C>A (p.Pro2206Thr)
c.6316C>A (p.Pro2106Thr)
c.3580C>A (p.Pro1194Thr)
c.2473C>A (p.Pro825Thr)
c.6499C>A (p.Pro2167Thr)
c.2251C>A (p.Pro751Thr)
c.5479C>A (p.Pro1827Thr)
8g.99717335C>GCA371867428VPS13Bc.6694C>G (p.Pro2232Ala)
n.6764C>G
c.*2376C>G (n.*2376C>G)
c.6619C>G (p.Pro2207Ala)
c.6691C>G (p.Pro2231Ala)
c.6616C>G (p.Pro2206Ala)
c.6316C>G (p.Pro2106Ala)
c.3580C>G (p.Pro1194Ala)
c.2473C>G (p.Pro825Ala)
c.6499C>G (p.Pro2167Ala)
c.2251C>G (p.Pro751Ala)
c.5479C>G (p.Pro1827Ala)
8g.99717335C>TCA371867429VPS13Bc.6694C>T (p.Pro2232Ser)
n.6764C>T
c.*2376C>T (n.*2376C>T)
c.6619C>T (p.Pro2207Ser)
c.6691C>T (p.Pro2231Ser)
c.6616C>T (p.Pro2206Ser)
c.6316C>T (p.Pro2106Ser)
c.3580C>T (p.Pro1194Ser)
c.2473C>T (p.Pro825Ser)
c.6499C>T (p.Pro2167Ser)
c.2251C>T (p.Pro751Ser)
c.5479C>T (p.Pro1827Ser)
 gnomAD v4
8g.99717336C>ACA371867430VPS13Bc.6695C>A (p.Pro2232Gln)
n.6765C>A
c.*2377C>A (n.*2377C>A)
c.6620C>A (p.Pro2207Gln)
c.6692C>A (p.Pro2231Gln)
c.6617C>A (p.Pro2206Gln)
c.6317C>A (p.Pro2106Gln)
c.3581C>A (p.Pro1194Gln)
c.2474C>A (p.Pro825Gln)
c.6500C>A (p.Pro2167Gln)
c.2252C>A (p.Pro751Gln)
c.5480C>A (p.Pro1827Gln)
8g.99717336C>GCA371867431VPS13Bc.6695C>G (p.Pro2232Arg)
n.6765C>G
c.*2377C>G (n.*2377C>G)
c.6620C>G (p.Pro2207Arg)
c.6692C>G (p.Pro2231Arg)
c.6617C>G (p.Pro2206Arg)
c.6317C>G (p.Pro2106Arg)
c.3581C>G (p.Pro1194Arg)
c.2474C>G (p.Pro825Arg)
c.6500C>G (p.Pro2167Arg)
c.2252C>G (p.Pro751Arg)
c.5480C>G (p.Pro1827Arg)
8g.99717336C>TCA371867432VPS13Bc.6695C>T (p.Pro2232Leu)
n.6765C>T
c.*2377C>T (n.*2377C>T)
c.6620C>T (p.Pro2207Leu)
c.6692C>T (p.Pro2231Leu)
c.6617C>T (p.Pro2206Leu)
c.6317C>T (p.Pro2106Leu)
c.3581C>T (p.Pro1194Leu)
c.2474C>T (p.Pro825Leu)
c.6500C>T (p.Pro2167Leu)
c.2252C>T (p.Pro751Leu)
c.5480C>T (p.Pro1827Leu)
8g.99717337A>CCA462440302VPS13Bc.6696A>C (p.Pro2232=)
n.6766A>C
c.*2378A>C (n.*2378A>C)
c.6621A>C (p.Pro2207=)
c.6693A>C (p.Pro2231=)
c.6618A>C (p.Pro2206=)
c.6318A>C (p.Pro2106=)
c.3582A>C (p.Pro1194=)
c.2475A>C (p.Pro825=)
c.6501A>C (p.Pro2167=)
c.2253A>C (p.Pro751=)
c.5481A>C (p.Pro1827=)
8g.99717337A>GCA462440303VPS13Bc.6696A>G (p.Pro2232=)
n.6766A>G
c.*2378A>G (n.*2378A>G)
c.6621A>G (p.Pro2207=)
c.6693A>G (p.Pro2231=)
c.6618A>G (p.Pro2206=)
c.6318A>G (p.Pro2106=)
c.3582A>G (p.Pro1194=)
c.2475A>G (p.Pro825=)
c.6501A>G (p.Pro2167=)
c.2253A>G (p.Pro751=)
c.5481A>G (p.Pro1827=)
8g.99717337A>TCA462440304VPS13Bc.6696A>T (p.Pro2232=)
n.6766A>T
c.*2378A>T (n.*2378A>T)
c.6621A>T (p.Pro2207=)
c.6693A>T (p.Pro2231=)
c.6618A>T (p.Pro2206=)
c.6318A>T (p.Pro2106=)
c.3582A>T (p.Pro1194=)
c.2475A>T (p.Pro825=)
c.6501A>T (p.Pro2167=)
c.2253A>T (p.Pro751=)
c.5481A>T (p.Pro1827=)
8g.99717341dupCA2499219484VPS13Bc.6700dup (p.Ile2234AsnfsTer4)
n.6770dup
c.*2382dup (n.*2382dup)
c.6625dup (p.Ile2209AsnfsTer4)
c.6697dup (p.Ile2233AsnfsTer4)
c.6622dup (p.Ile2208AsnfsTer4)
c.6322dup (p.Ile2108AsnfsTer4)
c.3586dup (p.Ile1196AsnfsTer4)
c.2479dup (p.Ile827AsnfsTer4)
c.6505dup (p.Ile2169AsnfsTer4)
c.2257dup (p.Ile753AsnfsTer4)
c.5485dup (p.Ile1829AsnfsTer4)
 ClinVar dbSNP
8g.99717338A>CCA371867433VPS13Bc.6697A>C (p.Lys2233Gln)
n.6767A>C
c.*2379A>C (n.*2379A>C)
c.6622A>C (p.Lys2208Gln)
c.6694A>C (p.Lys2232Gln)
c.6619A>C (p.Lys2207Gln)
c.6319A>C (p.Lys2107Gln)
c.3583A>C (p.Lys1195Gln)
c.2476A>C (p.Lys826Gln)
c.6502A>C (p.Lys2168Gln)
c.2254A>C (p.Lys752Gln)
c.5482A>C (p.Lys1828Gln)
8g.99717338A>GCA371867434VPS13Bc.6697A>G (p.Lys2233Glu)
n.6767A>G
c.*2379A>G (n.*2379A>G)
c.6622A>G (p.Lys2208Glu)
c.6694A>G (p.Lys2232Glu)
c.6619A>G (p.Lys2207Glu)
c.6319A>G (p.Lys2107Glu)
c.3583A>G (p.Lys1195Glu)
c.2476A>G (p.Lys826Glu)
c.6502A>G (p.Lys2168Glu)
c.2254A>G (p.Lys752Glu)
c.5482A>G (p.Lys1828Glu)
8g.99717338A>TCA371867435VPS13Bc.6697A>T (p.Lys2233Ter)
n.6767A>T
c.*2379A>T (n.*2379A>T)
c.6622A>T (p.Lys2208Ter)
c.6694A>T (p.Lys2232Ter)
c.6619A>T (p.Lys2207Ter)
c.6319A>T (p.Lys2107Ter)
c.3583A>T (p.Lys1195Ter)
c.2476A>T (p.Lys826Ter)
c.6502A>T (p.Lys2168Ter)
c.2254A>T (p.Lys752Ter)
c.5482A>T (p.Lys1828Ter)
8g.99717339A>CCA371867436VPS13Bc.6698A>C (p.Lys2233Thr)
n.6768A>C
c.*2380A>C (n.*2380A>C)
c.6623A>C (p.Lys2208Thr)
c.6695A>C (p.Lys2232Thr)
c.6620A>C (p.Lys2207Thr)
c.6320A>C (p.Lys2107Thr)
c.3584A>C (p.Lys1195Thr)
c.2477A>C (p.Lys826Thr)
c.6503A>C (p.Lys2168Thr)
c.2255A>C (p.Lys752Thr)
c.5483A>C (p.Lys1828Thr)
8g.99717339A>GCA371867437VPS13Bc.6698A>G (p.Lys2233Arg)
n.6768A>G
c.*2380A>G (n.*2380A>G)
c.6623A>G (p.Lys2208Arg)
c.6695A>G (p.Lys2232Arg)
c.6620A>G (p.Lys2207Arg)
c.6320A>G (p.Lys2107Arg)
c.3584A>G (p.Lys1195Arg)
c.2477A>G (p.Lys826Arg)
c.6503A>G (p.Lys2168Arg)
c.2255A>G (p.Lys752Arg)
c.5483A>G (p.Lys1828Arg)
8g.99717339A>TCA371867438VPS13Bc.6698A>T (p.Lys2233Ile)
n.6768A>T
c.*2380A>T (n.*2380A>T)
c.6623A>T (p.Lys2208Ile)
c.6695A>T (p.Lys2232Ile)
c.6620A>T (p.Lys2207Ile)
c.6320A>T (p.Lys2107Ile)
c.3584A>T (p.Lys1195Ile)
c.2477A>T (p.Lys826Ile)
c.6503A>T (p.Lys2168Ile)
c.2255A>T (p.Lys752Ile)
c.5483A>T (p.Lys1828Ile)
8g.99717340A>CCA371867440VPS13Bc.6699A>C (p.Lys2233Asn)
n.6769A>C
c.*2381A>C (n.*2381A>C)
c.6624A>C (p.Lys2208Asn)
c.6696A>C (p.Lys2232Asn)
c.6621A>C (p.Lys2207Asn)
c.6321A>C (p.Lys2107Asn)
c.3585A>C (p.Lys1195Asn)
c.2478A>C (p.Lys826Asn)
c.6504A>C (p.Lys2168Asn)
c.2256A>C (p.Lys752Asn)
c.5484A>C (p.Lys1828Asn)
8g.99717340A>GCA462440305VPS13Bc.6699A>G (p.Lys2233=)
n.6769A>G
c.*2381A>G (n.*2381A>G)
c.6624A>G (p.Lys2208=)
c.6696A>G (p.Lys2232=)
c.6621A>G (p.Lys2207=)
c.6321A>G (p.Lys2107=)
c.3585A>G (p.Lys1195=)
c.2478A>G (p.Lys826=)
c.6504A>G (p.Lys2168=)
c.2256A>G (p.Lys752=)
c.5484A>G (p.Lys1828=)
 gnomAD v4
8g.99717340A>TCA371867439VPS13Bc.6699A>T (p.Lys2233Asn)
n.6769A>T
c.*2381A>T (n.*2381A>T)
c.6624A>T (p.Lys2208Asn)
c.6696A>T (p.Lys2232Asn)
c.6621A>T (p.Lys2207Asn)
c.6321A>T (p.Lys2107Asn)
c.3585A>T (p.Lys1195Asn)
c.2478A>T (p.Lys826Asn)
c.6504A>T (p.Lys2168Asn)
c.2256A>T (p.Lys752Asn)
c.5484A>T (p.Lys1828Asn)
8g.99717341A>CCA371867441VPS13Bc.6700A>C (p.Ile2234Leu)
n.6770A>C
c.*2382A>C (n.*2382A>C)
c.6625A>C (p.Ile2209Leu)
c.6697A>C (p.Ile2233Leu)
c.6622A>C (p.Ile2208Leu)
c.6322A>C (p.Ile2108Leu)
c.3586A>C (p.Ile1196Leu)
c.2479A>C (p.Ile827Leu)
c.6505A>C (p.Ile2169Leu)
c.2257A>C (p.Ile753Leu)
c.5485A>C (p.Ile1829Leu)
8g.99717341A>GCA371867442VPS13Bc.6700A>G (p.Ile2234Val)
n.6770A>G
c.*2382A>G (n.*2382A>G)
c.6625A>G (p.Ile2209Val)
c.6697A>G (p.Ile2233Val)
c.6622A>G (p.Ile2208Val)
c.6322A>G (p.Ile2108Val)
c.3586A>G (p.Ile1196Val)
c.2479A>G (p.Ile827Val)
c.6505A>G (p.Ile2169Val)
c.2257A>G (p.Ile753Val)
c.5485A>G (p.Ile1829Val)
8g.99717341A>TCA371867443VPS13Bc.6700A>T (p.Ile2234Leu)
n.6770A>T
c.*2382A>T (n.*2382A>T)
c.6625A>T (p.Ile2209Leu)
c.6697A>T (p.Ile2233Leu)
c.6622A>T (p.Ile2208Leu)
c.6322A>T (p.Ile2108Leu)
c.3586A>T (p.Ile1196Leu)
c.2479A>T (p.Ile827Leu)
c.6505A>T (p.Ile2169Leu)
c.2257A>T (p.Ile753Leu)
c.5485A>T (p.Ile1829Leu)
 COSMIC COSMIC
8g.99717342T>ACA371867444VPS13Bc.6701T>A (p.Ile2234Lys)
n.6771T>A
c.*2383T>A (n.*2383T>A)
c.6626T>A (p.Ile2209Lys)
c.6698T>A (p.Ile2233Lys)
c.6623T>A (p.Ile2208Lys)
c.6323T>A (p.Ile2108Lys)
c.3587T>A (p.Ile1196Lys)
c.2480T>A (p.Ile827Lys)
c.6506T>A (p.Ile2169Lys)
c.2258T>A (p.Ile753Lys)
c.5486T>A (p.Ile1829Lys)
8g.99717342T>CCA371867445VPS13Bc.6701T>C (p.Ile2234Thr)
n.6771T>C
c.*2383T>C (n.*2383T>C)
c.6626T>C (p.Ile2209Thr)
c.6698T>C (p.Ile2233Thr)
c.6623T>C (p.Ile2208Thr)
c.6323T>C (p.Ile2108Thr)
c.3587T>C (p.Ile1196Thr)
c.2480T>C (p.Ile827Thr)
c.6506T>C (p.Ile2169Thr)
c.2258T>C (p.Ile753Thr)
c.5486T>C (p.Ile1829Thr)
 gnomAD v4
8g.99717342T>GCA371867446VPS13Bc.6701T>G (p.Ile2234Arg)
n.6771T>G
c.*2383T>G (n.*2383T>G)
c.6626T>G (p.Ile2209Arg)
c.6698T>G (p.Ile2233Arg)
c.6623T>G (p.Ile2208Arg)
c.6323T>G (p.Ile2108Arg)
c.3587T>G (p.Ile1196Arg)
c.2480T>G (p.Ile827Arg)
c.6506T>G (p.Ile2169Arg)
c.2258T>G (p.Ile753Arg)
c.5486T>G (p.Ile1829Arg)
8g.99717343A>CCA462440307VPS13Bc.6702A>C (p.Ile2234=)
n.6772A>C
c.*2384A>C (n.*2384A>C)
c.6627A>C (p.Ile2209=)
c.6699A>C (p.Ile2233=)
c.6624A>C (p.Ile2208=)
c.6324A>C (p.Ile2108=)
c.3588A>C (p.Ile1196=)
c.2481A>C (p.Ile827=)
c.6507A>C (p.Ile2169=)
c.2259A>C (p.Ile753=)
c.5487A>C (p.Ile1829=)
8g.99717343A>GCA371867447VPS13Bc.6702A>G (p.Ile2234Met)
n.6772A>G
c.*2384A>G (n.*2384A>G)
c.6627A>G (p.Ile2209Met)
c.6699A>G (p.Ile2233Met)
c.6624A>G (p.Ile2208Met)
c.6324A>G (p.Ile2108Met)
c.3588A>G (p.Ile1196Met)
c.2481A>G (p.Ile827Met)
c.6507A>G (p.Ile2169Met)
c.2259A>G (p.Ile753Met)
c.5487A>G (p.Ile1829Met)
8g.99717343A>TCA462440306VPS13Bc.6702A>T (p.Ile2234=)
n.6772A>T
c.*2384A>T (n.*2384A>T)
c.6627A>T (p.Ile2209=)
c.6699A>T (p.Ile2233=)
c.6624A>T (p.Ile2208=)
c.6324A>T (p.Ile2108=)
c.3588A>T (p.Ile1196=)
c.2481A>T (p.Ile827=)
c.6507A>T (p.Ile2169=)
c.2259A>T (p.Ile753=)
c.5487A>T (p.Ile1829=)
8g.99717343_99717344insCAGAAGAGCA918325653VPS13Bc.6702_6703insCAGAAGAG (p.Ser2235GlnfsTer7)
n.6772_6773insCAGAAGAG
c.*2384_*2385insCAGAAGAG (n.*2384_*2385insCAGAAGAG)
c.6627_6628insCAGAAGAG (p.Ser2210GlnfsTer7)
c.6699_6700insCAGAAGAG (p.Ser2234GlnfsTer7)
c.6624_6625insCAGAAGAG (p.Ser2209GlnfsTer7)
c.6324_6325insCAGAAGAG (p.Ser2109GlnfsTer7)
c.3588_3589insCAGAAGAG (p.Ser1197GlnfsTer7)
c.2481_2482insCAGAAGAG (p.Ser828GlnfsTer7)
c.6507_6508insCAGAAGAG (p.Ser2170GlnfsTer7)
c.2259_2260insCAGAAGAG (p.Ser754GlnfsTer7)
c.5487_5488insCAGAAGAG (p.Ser1830GlnfsTer7)
 dbSNP
8g.99717344T>ACA371867448VPS13Bc.6703T>A (p.Ser2235Thr)
n.6773T>A
c.*2385T>A (n.*2385T>A)
c.6628T>A (p.Ser2210Thr)
c.6700T>A (p.Ser2234Thr)
c.6625T>A (p.Ser2209Thr)
c.6325T>A (p.Ser2109Thr)
c.3589T>A (p.Ser1197Thr)
c.2482T>A (p.Ser828Thr)
c.6508T>A (p.Ser2170Thr)
c.2260T>A (p.Ser754Thr)
c.5488T>A (p.Ser1830Thr)
8g.99717344T>CCA371867449VPS13Bc.6703T>C (p.Ser2235Pro)
n.6773T>C
c.*2385T>C (n.*2385T>C)
c.6628T>C (p.Ser2210Pro)
c.6700T>C (p.Ser2234Pro)
c.6625T>C (p.Ser2209Pro)
c.6325T>C (p.Ser2109Pro)
c.3589T>C (p.Ser1197Pro)
c.2482T>C (p.Ser828Pro)
c.6508T>C (p.Ser2170Pro)
c.2260T>C (p.Ser754Pro)
c.5488T>C (p.Ser1830Pro)
8g.99717344T>GCA371867450VPS13Bc.6703T>G (p.Ser2235Ala)
n.6773T>G
c.*2385T>G (n.*2385T>G)
c.6628T>G (p.Ser2210Ala)
c.6700T>G (p.Ser2234Ala)
c.6625T>G (p.Ser2209Ala)
c.6325T>G (p.Ser2109Ala)
c.3589T>G (p.Ser1197Ala)
c.2482T>G (p.Ser828Ala)
c.6508T>G (p.Ser2170Ala)
c.2260T>G (p.Ser754Ala)
c.5488T>G (p.Ser1830Ala)
8g.99717345C>ACA371867451VPS13Bc.6704C>A (p.Ser2235Tyr)
n.6774C>A
c.*2386C>A (n.*2386C>A)
c.6629C>A (p.Ser2210Tyr)
c.6701C>A (p.Ser2234Tyr)
c.6626C>A (p.Ser2209Tyr)
c.6326C>A (p.Ser2109Tyr)
c.3590C>A (p.Ser1197Tyr)
c.2483C>A (p.Ser828Tyr)
c.6509C>A (p.Ser2170Tyr)
c.2261C>A (p.Ser754Tyr)
c.5489C>A (p.Ser1830Tyr)
8g.99717345C>GCA183029013VPS13Bc.6704C>G (p.Ser2235Cys)
n.6774C>G
c.*2386C>G (n.*2386C>G)
c.6629C>G (p.Ser2210Cys)
c.6701C>G (p.Ser2234Cys)
c.6626C>G (p.Ser2209Cys)
c.6326C>G (p.Ser2109Cys)
c.3590C>G (p.Ser1197Cys)
c.2483C>G (p.Ser828Cys)
c.6509C>G (p.Ser2170Cys)
c.2261C>G (p.Ser754Cys)
c.5489C>G (p.Ser1830Cys)
 dbSNP gnomAD v4
8g.99717345C>TCA371867452VPS13Bc.6704C>T (p.Ser2235Phe)
n.6774C>T
c.*2386C>T (n.*2386C>T)
c.6629C>T (p.Ser2210Phe)
c.6701C>T (p.Ser2234Phe)
c.6626C>T (p.Ser2209Phe)
c.6326C>T (p.Ser2109Phe)
c.3590C>T (p.Ser1197Phe)
c.2483C>T (p.Ser828Phe)
c.6509C>T (p.Ser2170Phe)
c.2261C>T (p.Ser754Phe)
c.5489C>T (p.Ser1830Phe)
8g.99717346C>ACA462440308VPS13Bc.6705C>A (p.Ser2235=)
n.6775C>A
c.*2387C>A (n.*2387C>A)
c.6630C>A (p.Ser2210=)
c.6702C>A (p.Ser2234=)
c.6627C>A (p.Ser2209=)
c.6327C>A (p.Ser2109=)
c.3591C>A (p.Ser1197=)
c.2484C>A (p.Ser828=)
c.6510C>A (p.Ser2170=)
c.2262C>A (p.Ser754=)
c.5490C>A (p.Ser1830=)
8g.99717346C>GCA462440309VPS13Bc.6705C>G (p.Ser2235=)
n.6775C>G
c.*2387C>G (n.*2387C>G)
c.6630C>G (p.Ser2210=)
c.6702C>G (p.Ser2234=)
c.6627C>G (p.Ser2209=)
c.6327C>G (p.Ser2109=)
c.3591C>G (p.Ser1197=)
c.2484C>G (p.Ser828=)
c.6510C>G (p.Ser2170=)
c.2262C>G (p.Ser754=)
c.5490C>G (p.Ser1830=)
8g.99717346C>TCA462440310VPS13Bc.6705C>T (p.Ser2235=)
n.6775C>T
c.*2387C>T (n.*2387C>T)
c.6630C>T (p.Ser2210=)
c.6702C>T (p.Ser2234=)
c.6627C>T (p.Ser2209=)
c.6327C>T (p.Ser2109=)
c.3591C>T (p.Ser1197=)
c.2484C>T (p.Ser828=)
c.6510C>T (p.Ser2170=)
c.2262C>T (p.Ser754=)
c.5490C>T (p.Ser1830=)
8g.99717347A>CCA223479VPS13Bc.6706A>C (p.Ile2236Leu)
n.6776A>C
c.*2388A>C (n.*2388A>C)
c.6631A>C (p.Ile2211Leu)
c.6703A>C (p.Ile2235Leu)
c.6628A>C (p.Ile2210Leu)
c.6328A>C (p.Ile2110Leu)
c.3592A>C (p.Ile1198Leu)
c.2485A>C (p.Ile829Leu)
c.6511A>C (p.Ile2171Leu)
c.2263A>C (p.Ile755Leu)
c.5491A>C (p.Ile1831Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717347A>GCA4824041VPS13Bc.6706A>G (p.Ile2236Val)
n.6776A>G
c.*2388A>G (n.*2388A>G)
c.6631A>G (p.Ile2211Val)
c.6703A>G (p.Ile2235Val)
c.6628A>G (p.Ile2210Val)
c.6328A>G (p.Ile2110Val)
c.3592A>G (p.Ile1198Val)
c.2485A>G (p.Ile829Val)
c.6511A>G (p.Ile2171Val)
c.2263A>G (p.Ile755Val)
c.5491A>G (p.Ile1831Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717347A>TCA371867453VPS13Bc.6706A>T (p.Ile2236Phe)
n.6776A>T
c.*2388A>T (n.*2388A>T)
c.6631A>T (p.Ile2211Phe)
c.6703A>T (p.Ile2235Phe)
c.6628A>T (p.Ile2210Phe)
c.6328A>T (p.Ile2110Phe)
c.3592A>T (p.Ile1198Phe)
c.2485A>T (p.Ile829Phe)
c.6511A>T (p.Ile2171Phe)
c.2263A>T (p.Ile755Phe)
c.5491A>T (p.Ile1831Phe)
8g.99717348T>ACA371867454VPS13Bc.6707T>A (p.Ile2236Asn)
n.6777T>A
c.*2389T>A (n.*2389T>A)
c.6632T>A (p.Ile2211Asn)
c.6704T>A (p.Ile2235Asn)
c.6629T>A (p.Ile2210Asn)
c.6329T>A (p.Ile2110Asn)
c.3593T>A (p.Ile1198Asn)
c.2486T>A (p.Ile829Asn)
c.6512T>A (p.Ile2171Asn)
c.2264T>A (p.Ile755Asn)
c.5492T>A (p.Ile1831Asn)
8g.99717348T>CCA371867455VPS13Bc.6707T>C (p.Ile2236Thr)
n.6777T>C
c.*2389T>C (n.*2389T>C)
c.6632T>C (p.Ile2211Thr)
c.6704T>C (p.Ile2235Thr)
c.6629T>C (p.Ile2210Thr)
c.6329T>C (p.Ile2110Thr)
c.3593T>C (p.Ile1198Thr)
c.2486T>C (p.Ile829Thr)
c.6512T>C (p.Ile2171Thr)
c.2264T>C (p.Ile755Thr)
c.5492T>C (p.Ile1831Thr)
8g.99717348T>GCA371867456VPS13Bc.6707T>G (p.Ile2236Ser)
n.6777T>G
c.*2389T>G (n.*2389T>G)
c.6632T>G (p.Ile2211Ser)
c.6704T>G (p.Ile2235Ser)
c.6629T>G (p.Ile2210Ser)
c.6329T>G (p.Ile2110Ser)
c.3593T>G (p.Ile1198Ser)
c.2486T>G (p.Ile829Ser)
c.6512T>G (p.Ile2171Ser)
c.2264T>G (p.Ile755Ser)
c.5492T>G (p.Ile1831Ser)
8g.99717349T>ACA462440311VPS13Bc.6708T>A (p.Ile2236=)
n.6778T>A
c.*2390T>A (n.*2390T>A)
c.6633T>A (p.Ile2211=)
c.6705T>A (p.Ile2235=)
c.6630T>A (p.Ile2210=)
c.6330T>A (p.Ile2110=)
c.3594T>A (p.Ile1198=)
c.2487T>A (p.Ile829=)
c.6513T>A (p.Ile2171=)
c.2265T>A (p.Ile755=)
c.5493T>A (p.Ile1831=)
8g.99717349T>CCA462440312VPS13Bc.6708T>C (p.Ile2236=)
n.6778T>C
c.*2390T>C (n.*2390T>C)
c.6633T>C (p.Ile2211=)
c.6705T>C (p.Ile2235=)
c.6630T>C (p.Ile2210=)
c.6330T>C (p.Ile2110=)
c.3594T>C (p.Ile1198=)
c.2487T>C (p.Ile829=)
c.6513T>C (p.Ile2171=)
c.2265T>C (p.Ile755=)
c.5493T>C (p.Ile1831=)
8g.99717349T>GCA371867457VPS13Bc.6708T>G (p.Ile2236Met)
n.6778T>G
c.*2390T>G (n.*2390T>G)
c.6633T>G (p.Ile2211Met)
c.6705T>G (p.Ile2235Met)
c.6630T>G (p.Ile2210Met)
c.6330T>G (p.Ile2110Met)
c.3594T>G (p.Ile1198Met)
c.2487T>G (p.Ile829Met)
c.6513T>G (p.Ile2171Met)
c.2265T>G (p.Ile755Met)
c.5493T>G (p.Ile1831Met)
8g.99717349_99717350insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATACA2567866936VPS13Bc.6708_6709insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2237PhefsTer42)
n.6778_6779insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA
c.*2390_*2391insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (n.*2390_*2391insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA)
c.6633_6634insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2212PhefsTer42)
c.6705_6706insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2236PhefsTer42)
c.6630_6631insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2211PhefsTer42)
c.6330_6331insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2111PhefsTer42)
c.3594_3595insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp1199PhefsTer42)
c.2487_2488insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp830PhefsTer42)
c.6513_6514insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp2172PhefsTer42)
c.2265_2266insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp756PhefsTer42)
c.5493_5494insTTTCGTGCTACCCCAACGAGCGCGCCAGAGATAGCAAAGGCAATGGTGCCAATCATATCAAACATATACCATATAATATCCATAATACCCTCACACAATCTATTCGCATTACTGCGTACACTATGATA (p.Asp1832PhefsTer42)
8g.99717350G>ACA371867458VPS13Bc.6709G>A (p.Asp2237Asn)
n.6779G>A
c.*2391G>A (n.*2391G>A)
c.6634G>A (p.Asp2212Asn)
c.6706G>A (p.Asp2236Asn)
c.6631G>A (p.Asp2211Asn)
c.6331G>A (p.Asp2111Asn)
c.3595G>A (p.Asp1199Asn)
c.2488G>A (p.Asp830Asn)
c.6514G>A (p.Asp2172Asn)
c.2266G>A (p.Asp756Asn)
c.5494G>A (p.Asp1832Asn)
8g.99717350G>CCA371867459VPS13Bc.6709G>C (p.Asp2237His)
n.6779G>C
c.*2391G>C (n.*2391G>C)
c.6634G>C (p.Asp2212His)
c.6706G>C (p.Asp2236His)
c.6631G>C (p.Asp2211His)
c.6331G>C (p.Asp2111His)
c.3595G>C (p.Asp1199His)
c.2488G>C (p.Asp830His)
c.6514G>C (p.Asp2172His)
c.2266G>C (p.Asp756His)
c.5494G>C (p.Asp1832His)
8g.99717350G>TCA371867460VPS13Bc.6709G>T (p.Asp2237Tyr)
n.6779G>T
c.*2391G>T (n.*2391G>T)
c.6634G>T (p.Asp2212Tyr)
c.6706G>T (p.Asp2236Tyr)
c.6631G>T (p.Asp2211Tyr)
c.6331G>T (p.Asp2111Tyr)
c.3595G>T (p.Asp1199Tyr)
c.2488G>T (p.Asp830Tyr)
c.6514G>T (p.Asp2172Tyr)
c.2266G>T (p.Asp756Tyr)
c.5494G>T (p.Asp1832Tyr)
8g.99717351A>CCA371867461VPS13Bc.6710A>C (p.Asp2237Ala)
n.6780A>C
c.*2392A>C (n.*2392A>C)
c.6635A>C (p.Asp2212Ala)
c.6707A>C (p.Asp2236Ala)
c.6632A>C (p.Asp2211Ala)
c.6332A>C (p.Asp2111Ala)
c.3596A>C (p.Asp1199Ala)
c.2489A>C (p.Asp830Ala)
c.6515A>C (p.Asp2172Ala)
c.2267A>C (p.Asp756Ala)
c.5495A>C (p.Asp1832Ala)
 ClinVar dbSNP
8g.99717351A>GCA371867463VPS13Bc.6710A>G (p.Asp2237Gly)
n.6780A>G
c.*2392A>G (n.*2392A>G)
c.6635A>G (p.Asp2212Gly)
c.6707A>G (p.Asp2236Gly)
c.6632A>G (p.Asp2211Gly)
c.6332A>G (p.Asp2111Gly)
c.3596A>G (p.Asp1199Gly)
c.2489A>G (p.Asp830Gly)
c.6515A>G (p.Asp2172Gly)
c.2267A>G (p.Asp756Gly)
c.5495A>G (p.Asp1832Gly)
8g.99717351A>TCA371867462VPS13Bc.6710A>T (p.Asp2237Val)
n.6780A>T
c.*2392A>T (n.*2392A>T)
c.6635A>T (p.Asp2212Val)
c.6707A>T (p.Asp2236Val)
c.6632A>T (p.Asp2211Val)
c.6332A>T (p.Asp2111Val)
c.3596A>T (p.Asp1199Val)
c.2489A>T (p.Asp830Val)
c.6515A>T (p.Asp2172Val)
c.2267A>T (p.Asp756Val)
c.5495A>T (p.Asp1832Val)
8g.99717352C>ACA371867464VPS13Bc.6711C>A (p.Asp2237Glu)
n.6781C>A
c.*2393C>A (n.*2393C>A)
c.6636C>A (p.Asp2212Glu)
c.6708C>A (p.Asp2236Glu)
c.6633C>A (p.Asp2211Glu)
c.6333C>A (p.Asp2111Glu)
c.3597C>A (p.Asp1199Glu)
c.2490C>A (p.Asp830Glu)
c.6516C>A (p.Asp2172Glu)
c.2268C>A (p.Asp756Glu)
c.5496C>A (p.Asp1832Glu)
8g.99717352C>GCA4824042VPS13Bc.6711C>G (p.Asp2237Glu)
n.6781C>G
c.*2393C>G (n.*2393C>G)
c.6636C>G (p.Asp2212Glu)
c.6708C>G (p.Asp2236Glu)
c.6633C>G (p.Asp2211Glu)
c.6333C>G (p.Asp2111Glu)
c.3597C>G (p.Asp1199Glu)
c.2490C>G (p.Asp830Glu)
c.6516C>G (p.Asp2172Glu)
c.2268C>G (p.Asp756Glu)
c.5496C>G (p.Asp1832Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717352C>TCA462440313VPS13Bc.6711C>T (p.Asp2237=)
n.6781C>T
c.*2393C>T (n.*2393C>T)
c.6636C>T (p.Asp2212=)
c.6708C>T (p.Asp2236=)
c.6633C>T (p.Asp2211=)
c.6333C>T (p.Asp2111=)
c.3597C>T (p.Asp1199=)
c.2490C>T (p.Asp830=)
c.6516C>T (p.Asp2172=)
c.2268C>T (p.Asp756=)
c.5496C>T (p.Asp1832=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717353T>ACA371867465VPS13Bc.6712T>A (p.Leu2238Ile)
n.6782T>A
c.*2394T>A (n.*2394T>A)
c.6637T>A (p.Leu2213Ile)
c.6709T>A (p.Leu2237Ile)
c.6634T>A (p.Leu2212Ile)
c.6334T>A (p.Leu2112Ile)
c.3598T>A (p.Leu1200Ile)
c.2491T>A (p.Leu831Ile)
c.6517T>A (p.Leu2173Ile)
c.2269T>A (p.Leu757Ile)
c.5497T>A (p.Leu1833Ile)
8g.99717353T>CCA462440314VPS13Bc.6712T>C (p.Leu2238=)
n.6782T>C
c.*2394T>C (n.*2394T>C)
c.6637T>C (p.Leu2213=)
c.6709T>C (p.Leu2237=)
c.6634T>C (p.Leu2212=)
c.6334T>C (p.Leu2112=)
c.3598T>C (p.Leu1200=)
c.2491T>C (p.Leu831=)
c.6517T>C (p.Leu2173=)
c.2269T>C (p.Leu757=)
c.5497T>C (p.Leu1833=)
8g.99717353T>GCA371867466VPS13Bc.6712T>G (p.Leu2238Val)
n.6782T>G
c.*2394T>G (n.*2394T>G)
c.6637T>G (p.Leu2213Val)
c.6709T>G (p.Leu2237Val)
c.6634T>G (p.Leu2212Val)
c.6334T>G (p.Leu2112Val)
c.3598T>G (p.Leu1200Val)
c.2491T>G (p.Leu831Val)
c.6517T>G (p.Leu2173Val)
c.2269T>G (p.Leu757Val)
c.5497T>G (p.Leu1833Val)
8g.99717354T>ACA371867469VPS13Bc.6713T>A (p.Leu2238Ter)
n.6783T>A
c.*2395T>A (n.*2395T>A)
c.6638T>A (p.Leu2213Ter)
c.6710T>A (p.Leu2237Ter)
c.6635T>A (p.Leu2212Ter)
c.6335T>A (p.Leu2112Ter)
c.3599T>A (p.Leu1200Ter)
c.2492T>A (p.Leu831Ter)
c.6518T>A (p.Leu2173Ter)
c.2270T>A (p.Leu757Ter)
c.5498T>A (p.Leu1833Ter)
8g.99717354T>CCA371867467VPS13Bc.6713T>C (p.Leu2238Ser)
n.6783T>C
c.*2395T>C (n.*2395T>C)
c.6638T>C (p.Leu2213Ser)
c.6710T>C (p.Leu2237Ser)
c.6635T>C (p.Leu2212Ser)
c.6335T>C (p.Leu2112Ser)
c.3599T>C (p.Leu1200Ser)
c.2492T>C (p.Leu831Ser)
c.6518T>C (p.Leu2173Ser)
c.2270T>C (p.Leu757Ser)
c.5498T>C (p.Leu1833Ser)
8g.99717354T>GCA371867468VPS13Bc.6713T>G (p.Leu2238Ter)
n.6783T>G
c.*2395T>G (n.*2395T>G)
c.6638T>G (p.Leu2213Ter)
c.6710T>G (p.Leu2237Ter)
c.6635T>G (p.Leu2212Ter)
c.6335T>G (p.Leu2112Ter)
c.3599T>G (p.Leu1200Ter)
c.2492T>G (p.Leu831Ter)
c.6518T>G (p.Leu2173Ter)
c.2270T>G (p.Leu757Ter)
c.5498T>G (p.Leu1833Ter)
8g.99717355A>CCA371867470VPS13Bc.6714A>C (p.Leu2238Phe)
n.6784A>C
c.*2396A>C (n.*2396A>C)
c.6639A>C (p.Leu2213Phe)
c.6711A>C (p.Leu2237Phe)
c.6636A>C (p.Leu2212Phe)
c.6336A>C (p.Leu2112Phe)
c.3600A>C (p.Leu1200Phe)
c.2493A>C (p.Leu831Phe)
c.6519A>C (p.Leu2173Phe)
c.2271A>C (p.Leu757Phe)
c.5499A>C (p.Leu1833Phe)
8g.99717355A>GCA462440315VPS13Bc.6714A>G (p.Leu2238=)
n.6784A>G
c.*2396A>G (n.*2396A>G)
c.6639A>G (p.Leu2213=)
c.6711A>G (p.Leu2237=)
c.6636A>G (p.Leu2212=)
c.6336A>G (p.Leu2112=)
c.3600A>G (p.Leu1200=)
c.2493A>G (p.Leu831=)
c.6519A>G (p.Leu2173=)
c.2271A>G (p.Leu757=)
c.5499A>G (p.Leu1833=)
8g.99717355A>TCA371867471VPS13Bc.6714A>T (p.Leu2238Phe)
n.6784A>T
c.*2396A>T (n.*2396A>T)
c.6639A>T (p.Leu2213Phe)
c.6711A>T (p.Leu2237Phe)
c.6636A>T (p.Leu2212Phe)
c.6336A>T (p.Leu2112Phe)
c.3600A>T (p.Leu1200Phe)
c.2493A>T (p.Leu831Phe)
c.6519A>T (p.Leu2173Phe)
c.2271A>T (p.Leu757Phe)
c.5499A>T (p.Leu1833Phe)
8g.99717356A>CCA462440316VPS13Bc.6715A>C (p.Arg2239=)
n.6785A>C
c.*2397A>C (n.*2397A>C)
c.6640A>C (p.Arg2214=)
c.6712A>C (p.Arg2238=)
c.6637A>C (p.Arg2213=)
c.6337A>C (p.Arg2113=)
c.3601A>C (p.Arg1201=)
c.2494A>C (p.Arg832=)
c.6520A>C (p.Arg2174=)
c.2272A>C (p.Arg758=)
c.5500A>C (p.Arg1834=)
8g.99717356A>GCA371867472VPS13Bc.6715A>G (p.Arg2239Gly)
n.6785A>G
c.*2397A>G (n.*2397A>G)
c.6640A>G (p.Arg2214Gly)
c.6712A>G (p.Arg2238Gly)
c.6637A>G (p.Arg2213Gly)
c.6337A>G (p.Arg2113Gly)
c.3601A>G (p.Arg1201Gly)
c.2494A>G (p.Arg832Gly)
c.6520A>G (p.Arg2174Gly)
c.2272A>G (p.Arg758Gly)
c.5500A>G (p.Arg1834Gly)
8g.99717356A>TCA371867473VPS13Bc.6715A>T (p.Arg2239Ter)
n.6785A>T
c.*2397A>T (n.*2397A>T)
c.6640A>T (p.Arg2214Ter)
c.6712A>T (p.Arg2238Ter)
c.6637A>T (p.Arg2213Ter)
c.6337A>T (p.Arg2113Ter)
c.3601A>T (p.Arg1201Ter)
c.2494A>T (p.Arg832Ter)
c.6520A>T (p.Arg2174Ter)
c.2272A>T (p.Arg758Ter)
c.5500A>T (p.Arg1834Ter)
8g.99717357G>ACA371867474VPS13Bc.6716G>A (p.Arg2239Lys)
n.6786G>A
c.*2398G>A (n.*2398G>A)
c.6641G>A (p.Arg2214Lys)
c.6713G>A (p.Arg2238Lys)
c.6638G>A (p.Arg2213Lys)
c.6338G>A (p.Arg2113Lys)
c.3602G>A (p.Arg1201Lys)
c.2495G>A (p.Arg832Lys)
c.6521G>A (p.Arg2174Lys)
c.2273G>A (p.Arg758Lys)
c.5501G>A (p.Arg1834Lys)
 dbSNP gnomAD v4
8g.99717357G>CCA371867475VPS13Bc.6716G>C (p.Arg2239Thr)
n.6786G>C
c.*2398G>C (n.*2398G>C)
c.6641G>C (p.Arg2214Thr)
c.6713G>C (p.Arg2238Thr)
c.6638G>C (p.Arg2213Thr)
c.6338G>C (p.Arg2113Thr)
c.3602G>C (p.Arg1201Thr)
c.2495G>C (p.Arg832Thr)
c.6521G>C (p.Arg2174Thr)
c.2273G>C (p.Arg758Thr)
c.5501G>C (p.Arg1834Thr)
8g.99717357G>TCA371867476VPS13Bc.6716G>T (p.Arg2239Ile)
n.6786G>T
c.*2398G>T (n.*2398G>T)
c.6641G>T (p.Arg2214Ile)
c.6713G>T (p.Arg2238Ile)
c.6638G>T (p.Arg2213Ile)
c.6338G>T (p.Arg2113Ile)
c.3602G>T (p.Arg1201Ile)
c.2495G>T (p.Arg832Ile)
c.6521G>T (p.Arg2174Ile)
c.2273G>T (p.Arg758Ile)
c.5501G>T (p.Arg1834Ile)
8g.99717358A>CCA371867477VPS13Bc.6717A>C (p.Arg2239Ser)
n.6787A>C
c.*2399A>C (n.*2399A>C)
c.6642A>C (p.Arg2214Ser)
c.6714A>C (p.Arg2238Ser)
c.6639A>C (p.Arg2213Ser)
c.6339A>C (p.Arg2113Ser)
c.3603A>C (p.Arg1201Ser)
c.2496A>C (p.Arg832Ser)
c.6522A>C (p.Arg2174Ser)
c.2274A>C (p.Arg758Ser)
c.5502A>C (p.Arg1834Ser)
8g.99717358A>GCA462440317VPS13Bc.6717A>G (p.Arg2239=)
n.6787A>G
c.*2399A>G (n.*2399A>G)
c.6642A>G (p.Arg2214=)
c.6714A>G (p.Arg2238=)
c.6639A>G (p.Arg2213=)
c.6339A>G (p.Arg2113=)
c.3603A>G (p.Arg1201=)
c.2496A>G (p.Arg832=)
c.6522A>G (p.Arg2174=)
c.2274A>G (p.Arg758=)
c.5502A>G (p.Arg1834=)
8g.99717358A>TCA371867478VPS13Bc.6717A>T (p.Arg2239Ser)
n.6787A>T
c.*2399A>T (n.*2399A>T)
c.6642A>T (p.Arg2214Ser)
c.6714A>T (p.Arg2238Ser)
c.6639A>T (p.Arg2213Ser)
c.6339A>T (p.Arg2113Ser)
c.3603A>T (p.Arg1201Ser)
c.2496A>T (p.Arg832Ser)
c.6522A>T (p.Arg2174Ser)
c.2274A>T (p.Arg758Ser)
c.5502A>T (p.Arg1834Ser)
8g.99717359G>ACA371867479VPS13Bc.6718G>A (p.Gly2240Arg)
n.6788G>A
c.*2400G>A (n.*2400G>A)
c.6643G>A (p.Gly2215Arg)
c.6715G>A (p.Gly2239Arg)
c.6640G>A (p.Gly2214Arg)
c.6340G>A (p.Gly2114Arg)
c.3604G>A (p.Gly1202Arg)
c.2497G>A (p.Gly833Arg)
c.6523G>A (p.Gly2175Arg)
c.2275G>A (p.Gly759Arg)
c.5503G>A (p.Gly1835Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99717359G>CCA371867480VPS13Bc.6718G>C (p.Gly2240Arg)
n.6788G>C
c.*2400G>C (n.*2400G>C)
c.6643G>C (p.Gly2215Arg)
c.6715G>C (p.Gly2239Arg)
c.6640G>C (p.Gly2214Arg)
c.6340G>C (p.Gly2114Arg)
c.3604G>C (p.Gly1202Arg)
c.2497G>C (p.Gly833Arg)
c.6523G>C (p.Gly2175Arg)
c.2275G>C (p.Gly759Arg)
c.5503G>C (p.Gly1835Arg)
8g.99717359G>TCA371867481VPS13Bc.6718G>T (p.Gly2240Ter)
n.6788G>T
c.*2400G>T (n.*2400G>T)
c.6643G>T (p.Gly2215Ter)
c.6715G>T (p.Gly2239Ter)
c.6640G>T (p.Gly2214Ter)
c.6340G>T (p.Gly2114Ter)
c.3604G>T (p.Gly1202Ter)
c.2497G>T (p.Gly833Ter)
c.6523G>T (p.Gly2175Ter)
c.2275G>T (p.Gly759Ter)
c.5503G>T (p.Gly1835Ter)
8g.99717360G>ACA371867482VPS13Bc.6719G>A (p.Gly2240Glu)
n.6789G>A
c.*2401G>A (n.*2401G>A)
c.6644G>A (p.Gly2215Glu)
c.6716G>A (p.Gly2239Glu)
c.6641G>A (p.Gly2214Glu)
c.6341G>A (p.Gly2114Glu)
c.3605G>A (p.Gly1202Glu)
c.2498G>A (p.Gly833Glu)
c.6524G>A (p.Gly2175Glu)
c.2276G>A (p.Gly759Glu)
c.5504G>A (p.Gly1835Glu)
8g.99717360G>CCA371867484VPS13Bc.6719G>C (p.Gly2240Ala)
n.6789G>C
c.*2401G>C (n.*2401G>C)
c.6644G>C (p.Gly2215Ala)
c.6716G>C (p.Gly2239Ala)
c.6641G>C (p.Gly2214Ala)
c.6341G>C (p.Gly2114Ala)
c.3605G>C (p.Gly1202Ala)
c.2498G>C (p.Gly833Ala)
c.6524G>C (p.Gly2175Ala)
c.2276G>C (p.Gly759Ala)
c.5504G>C (p.Gly1835Ala)
8g.99717360G>TCA371867483VPS13Bc.6719G>T (p.Gly2240Val)
n.6789G>T
c.*2401G>T (n.*2401G>T)
c.6644G>T (p.Gly2215Val)
c.6716G>T (p.Gly2239Val)
c.6641G>T (p.Gly2214Val)
c.6341G>T (p.Gly2114Val)
c.3605G>T (p.Gly1202Val)
c.2498G>T (p.Gly833Val)
c.6524G>T (p.Gly2175Val)
c.2276G>T (p.Gly759Val)
c.5504G>T (p.Gly1835Val)
8g.99717361A>CCA4824043VPS13Bc.6720A>C (p.Gly2240=)
n.6790A>C
c.*2402A>C (n.*2402A>C)
c.6645A>C (p.Gly2215=)
c.6717A>C (p.Gly2239=)
c.6642A>C (p.Gly2214=)
c.6342A>C (p.Gly2114=)
c.3606A>C (p.Gly1202=)
c.2499A>C (p.Gly833=)
c.6525A>C (p.Gly2175=)
c.2277A>C (p.Gly759=)
c.5505A>C (p.Gly1835=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717361A>GCA462440318VPS13Bc.6720A>G (p.Gly2240=)
n.6790A>G
c.*2402A>G (n.*2402A>G)
c.6645A>G (p.Gly2215=)
c.6717A>G (p.Gly2239=)
c.6642A>G (p.Gly2214=)
c.6342A>G (p.Gly2114=)
c.3606A>G (p.Gly1202=)
c.2499A>G (p.Gly833=)
c.6525A>G (p.Gly2175=)
c.2277A>G (p.Gly759=)
c.5505A>G (p.Gly1835=)
8g.99717361A>TCA462440319VPS13Bc.6720A>T (p.Gly2240=)
n.6790A>T
c.*2402A>T (n.*2402A>T)
c.6645A>T (p.Gly2215=)
c.6717A>T (p.Gly2239=)
c.6642A>T (p.Gly2214=)
c.6342A>T (p.Gly2114=)
c.3606A>T (p.Gly1202=)
c.2499A>T (p.Gly833=)
c.6525A>T (p.Gly2175=)
c.2277A>T (p.Gly759=)
c.5505A>T (p.Gly1835=)
8g.99717362G>ACA4824044VPS13Bc.6721G>A (p.Gly2241Ser)
n.6791G>A
c.*2403G>A (n.*2403G>A)
c.6646G>A (p.Gly2216Ser)
c.6718G>A (p.Gly2240Ser)
c.6643G>A (p.Gly2215Ser)
c.6343G>A (p.Gly2115Ser)
c.3607G>A (p.Gly1203Ser)
c.2500G>A (p.Gly834Ser)
c.6526G>A (p.Gly2176Ser)
c.2278G>A (p.Gly760Ser)
c.5506G>A (p.Gly1836Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717362G>CCA371867485VPS13Bc.6721G>C (p.Gly2241Arg)
n.6791G>C
c.*2403G>C (n.*2403G>C)
c.6646G>C (p.Gly2216Arg)
c.6718G>C (p.Gly2240Arg)
c.6643G>C (p.Gly2215Arg)
c.6343G>C (p.Gly2115Arg)
c.3607G>C (p.Gly1203Arg)
c.2500G>C (p.Gly834Arg)
c.6526G>C (p.Gly2176Arg)
c.2278G>C (p.Gly760Arg)
c.5506G>C (p.Gly1836Arg)
8g.99717362G>TCA371867486VPS13Bc.6721G>T (p.Gly2241Cys)
n.6791G>T
c.*2403G>T (n.*2403G>T)
c.6646G>T (p.Gly2216Cys)
c.6718G>T (p.Gly2240Cys)
c.6643G>T (p.Gly2215Cys)
c.6343G>T (p.Gly2115Cys)
c.3607G>T (p.Gly1203Cys)
c.2500G>T (p.Gly834Cys)
c.6526G>T (p.Gly2176Cys)
c.2278G>T (p.Gly760Cys)
c.5506G>T (p.Gly1836Cys)
 gnomAD v4
8g.99717363G>ACA371867487VPS13Bc.6722G>A (p.Gly2241Asp)
n.6792G>A
c.*2404G>A (n.*2404G>A)
c.6647G>A (p.Gly2216Asp)
c.6719G>A (p.Gly2240Asp)
c.6644G>A (p.Gly2215Asp)
c.6344G>A (p.Gly2115Asp)
c.3608G>A (p.Gly1203Asp)
c.2501G>A (p.Gly834Asp)
c.6527G>A (p.Gly2176Asp)
c.2279G>A (p.Gly760Asp)
c.5507G>A (p.Gly1836Asp)
 gnomAD v4
8g.99717363G>CCA371867488VPS13Bc.6722G>C (p.Gly2241Ala)
n.6792G>C
c.*2404G>C (n.*2404G>C)
c.6647G>C (p.Gly2216Ala)
c.6719G>C (p.Gly2240Ala)
c.6644G>C (p.Gly2215Ala)
c.6344G>C (p.Gly2115Ala)
c.3608G>C (p.Gly1203Ala)
c.2501G>C (p.Gly834Ala)
c.6527G>C (p.Gly2176Ala)
c.2279G>C (p.Gly760Ala)
c.5507G>C (p.Gly1836Ala)
8g.99717363G>TCA371867489VPS13Bc.6722G>T (p.Gly2241Val)
n.6792G>T
c.*2404G>T (n.*2404G>T)
c.6647G>T (p.Gly2216Val)
c.6719G>T (p.Gly2240Val)
c.6644G>T (p.Gly2215Val)
c.6344G>T (p.Gly2115Val)
c.3608G>T (p.Gly1203Val)
c.2501G>T (p.Gly834Val)
c.6527G>T (p.Gly2176Val)
c.2279G>T (p.Gly760Val)
c.5507G>T (p.Gly1836Val)
 dbSNP
8g.99717363_99717369delCA2580079144VPS13Bc.6722_6728del (p.Gly2241AspfsTer10)
n.6792_6798del
c.*2404_*2410del (n.*2404_*2410del)
c.6647_6653del (p.Gly2216AspfsTer10)
c.6719_6725del (p.Gly2240AspfsTer10)
c.6644_6650del (p.Gly2215AspfsTer10)
c.6344_6350del (p.Gly2115AspfsTer10)
c.3608_3614del (p.Gly1203AspfsTer10)
c.2501_2507del (p.Gly834AspfsTer10)
c.6527_6533del (p.Gly2176AspfsTer10)
c.2279_2285del (p.Gly760AspfsTer10)
c.5507_5513del (p.Gly1836AspfsTer10)
 ClinVar
8g.99717364T>ACA462440320VPS13Bc.6723T>A (p.Gly2241=)
n.6793T>A
c.*2405T>A (n.*2405T>A)
c.6648T>A (p.Gly2216=)
c.6720T>A (p.Gly2240=)
c.6645T>A (p.Gly2215=)
c.6345T>A (p.Gly2115=)
c.3609T>A (p.Gly1203=)
c.2502T>A (p.Gly834=)
c.6528T>A (p.Gly2176=)
c.2280T>A (p.Gly760=)
c.5508T>A (p.Gly1836=)
8g.99717364T>CCA4824045VPS13Bc.6723T>C (p.Gly2241=)
n.6793T>C
c.*2405T>C (n.*2405T>C)
c.6648T>C (p.Gly2216=)
c.6720T>C (p.Gly2240=)
c.6645T>C (p.Gly2215=)
c.6345T>C (p.Gly2115=)
c.3609T>C (p.Gly1203=)
c.2502T>C (p.Gly834=)
c.6528T>C (p.Gly2176=)
c.2280T>C (p.Gly760=)
c.5508T>C (p.Gly1836=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717364T>GCA462440321VPS13Bc.6723T>G (p.Gly2241=)
n.6793T>G
c.*2405T>G (n.*2405T>G)
c.6648T>G (p.Gly2216=)
c.6720T>G (p.Gly2240=)
c.6645T>G (p.Gly2215=)
c.6345T>G (p.Gly2115=)
c.3609T>G (p.Gly1203=)
c.2502T>G (p.Gly834=)
c.6528T>G (p.Gly2176=)
c.2280T>G (p.Gly760=)
c.5508T>G (p.Gly1836=)
8g.99717365C>ACA371867490VPS13Bc.6724C>A (p.Leu2242Ile)
n.6794C>A
c.*2406C>A (n.*2406C>A)
c.6649C>A (p.Leu2217Ile)
c.6721C>A (p.Leu2241Ile)
c.6646C>A (p.Leu2216Ile)
c.6346C>A (p.Leu2116Ile)
c.3610C>A (p.Leu1204Ile)
c.2503C>A (p.Leu835Ile)
c.6529C>A (p.Leu2177Ile)
c.2281C>A (p.Leu761Ile)
c.5509C>A (p.Leu1837Ile)
8g.99717365C>GCA371867491VPS13Bc.6724C>G (p.Leu2242Val)
n.6794C>G
c.*2406C>G (n.*2406C>G)
c.6649C>G (p.Leu2217Val)
c.6721C>G (p.Leu2241Val)
c.6646C>G (p.Leu2216Val)
c.6346C>G (p.Leu2116Val)
c.3610C>G (p.Leu1204Val)
c.2503C>G (p.Leu835Val)
c.6529C>G (p.Leu2177Val)
c.2281C>G (p.Leu761Val)
c.5509C>G (p.Leu1837Val)
8g.99717365C>TCA462440322VPS13Bc.6724C>T (p.Leu2242=)
n.6794C>T
c.*2406C>T (n.*2406C>T)
c.6649C>T (p.Leu2217=)
c.6721C>T (p.Leu2241=)
c.6646C>T (p.Leu2216=)
c.6346C>T (p.Leu2116=)
c.3610C>T (p.Leu1204=)
c.2503C>T (p.Leu835=)
c.6529C>T (p.Leu2177=)
c.2281C>T (p.Leu761=)
c.5509C>T (p.Leu1837=)
8g.99717366T>ACA371867492VPS13Bc.6725T>A (p.Leu2242Gln)
n.6795T>A
c.*2407T>A (n.*2407T>A)
c.6650T>A (p.Leu2217Gln)
c.6722T>A (p.Leu2241Gln)
c.6647T>A (p.Leu2216Gln)
c.6347T>A (p.Leu2116Gln)
c.3611T>A (p.Leu1204Gln)
c.2504T>A (p.Leu835Gln)
c.6530T>A (p.Leu2177Gln)
c.2282T>A (p.Leu761Gln)
c.5510T>A (p.Leu1837Gln)
8g.99717366T>CCA371867493VPS13Bc.6725T>C (p.Leu2242Pro)
n.6795T>C
c.*2407T>C (n.*2407T>C)
c.6650T>C (p.Leu2217Pro)
c.6722T>C (p.Leu2241Pro)
c.6647T>C (p.Leu2216Pro)
c.6347T>C (p.Leu2116Pro)
c.3611T>C (p.Leu1204Pro)
c.2504T>C (p.Leu835Pro)
c.6530T>C (p.Leu2177Pro)
c.2282T>C (p.Leu761Pro)
c.5510T>C (p.Leu1837Pro)
 gnomAD v4
8g.99717366T>GCA371867494VPS13Bc.6725T>G (p.Leu2242Arg)
n.6795T>G
c.*2407T>G (n.*2407T>G)
c.6650T>G (p.Leu2217Arg)
c.6722T>G (p.Leu2241Arg)
c.6647T>G (p.Leu2216Arg)
c.6347T>G (p.Leu2116Arg)
c.3611T>G (p.Leu1204Arg)
c.2504T>G (p.Leu835Arg)
c.6530T>G (p.Leu2177Arg)
c.2282T>G (p.Leu761Arg)
c.5510T>G (p.Leu1837Arg)
8g.99717367A>CCA462440323VPS13Bc.6726A>C (p.Leu2242=)
n.6796A>C
c.*2408A>C (n.*2408A>C)
c.6651A>C (p.Leu2217=)
c.6723A>C (p.Leu2241=)
c.6648A>C (p.Leu2216=)
c.6348A>C (p.Leu2116=)
c.3612A>C (p.Leu1204=)
c.2505A>C (p.Leu835=)
c.6531A>C (p.Leu2177=)
c.2283A>C (p.Leu761=)
c.5511A>C (p.Leu1837=)
8g.99717367A>GCA4824046VPS13Bc.6726A>G (p.Leu2242=)
n.6796A>G
c.*2408A>G (n.*2408A>G)
c.6651A>G (p.Leu2217=)
c.6723A>G (p.Leu2241=)
c.6648A>G (p.Leu2216=)
c.6348A>G (p.Leu2116=)
c.3612A>G (p.Leu1204=)
c.2505A>G (p.Leu835=)
c.6531A>G (p.Leu2177=)
c.2283A>G (p.Leu761=)
c.5511A>G (p.Leu1837=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717367A>TCA462440324VPS13Bc.6726A>T (p.Leu2242=)
n.6796A>T
c.*2408A>T (n.*2408A>T)
c.6651A>T (p.Leu2217=)
c.6723A>T (p.Leu2241=)
c.6648A>T (p.Leu2216=)
c.6348A>T (p.Leu2116=)
c.3612A>T (p.Leu1204=)
c.2505A>T (p.Leu835=)
c.6531A>T (p.Leu2177=)
c.2283A>T (p.Leu761=)
c.5511A>T (p.Leu1837=)
8g.99717368C>ACA4824047VPS13Bc.6727C>A (p.Leu2243Ile)
n.6797C>A
c.*2409C>A (n.*2409C>A)
c.6652C>A (p.Leu2218Ile)
c.6724C>A (p.Leu2242Ile)
c.6649C>A (p.Leu2217Ile)
c.6349C>A (p.Leu2117Ile)
c.3613C>A (p.Leu1205Ile)
c.2506C>A (p.Leu836Ile)
c.6532C>A (p.Leu2178Ile)
c.2284C>A (p.Leu762Ile)
c.5512C>A (p.Leu1838Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717368C>GCA371867495VPS13Bc.6727C>G (p.Leu2243Val)
n.6797C>G
c.*2409C>G (n.*2409C>G)
c.6652C>G (p.Leu2218Val)
c.6724C>G (p.Leu2242Val)
c.6649C>G (p.Leu2217Val)
c.6349C>G (p.Leu2117Val)
c.3613C>G (p.Leu1205Val)
c.2506C>G (p.Leu836Val)
c.6532C>G (p.Leu2178Val)
c.2284C>G (p.Leu762Val)
c.5512C>G (p.Leu1838Val)
8g.99717368C>TCA462440325VPS13Bc.6727C>T (p.Leu2243=)
n.6797C>T
c.*2409C>T (n.*2409C>T)
c.6652C>T (p.Leu2218=)
c.6724C>T (p.Leu2242=)
c.6649C>T (p.Leu2217=)
c.6349C>T (p.Leu2117=)
c.3613C>T (p.Leu1205=)
c.2506C>T (p.Leu836=)
c.6532C>T (p.Leu2178=)
c.2284C>T (p.Leu762=)
c.5512C>T (p.Leu1838=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717369T>ACA371867496VPS13Bc.6728T>A (p.Leu2243Gln)
n.6798T>A
c.*2410T>A (n.*2410T>A)
c.6653T>A (p.Leu2218Gln)
c.6725T>A (p.Leu2242Gln)
c.6650T>A (p.Leu2217Gln)
c.6350T>A (p.Leu2117Gln)
c.3614T>A (p.Leu1205Gln)
c.2507T>A (p.Leu836Gln)
c.6533T>A (p.Leu2178Gln)
c.2285T>A (p.Leu762Gln)
c.5513T>A (p.Leu1838Gln)
8g.99717369T>CCA371867497VPS13Bc.6728T>C (p.Leu2243Pro)
n.6798T>C
c.*2410T>C (n.*2410T>C)
c.6653T>C (p.Leu2218Pro)
c.6725T>C (p.Leu2242Pro)
c.6650T>C (p.Leu2217Pro)
c.6350T>C (p.Leu2117Pro)
c.3614T>C (p.Leu1205Pro)
c.2507T>C (p.Leu836Pro)
c.6533T>C (p.Leu2178Pro)
c.2285T>C (p.Leu762Pro)
c.5513T>C (p.Leu1838Pro)
 gnomAD v4
8g.99717369T>GCA371867498VPS13Bc.6728T>G (p.Leu2243Arg)
n.6798T>G
c.*2410T>G (n.*2410T>G)
c.6653T>G (p.Leu2218Arg)
c.6725T>G (p.Leu2242Arg)
c.6650T>G (p.Leu2217Arg)
c.6350T>G (p.Leu2117Arg)
c.3614T>G (p.Leu1205Arg)
c.2507T>G (p.Leu836Arg)
c.6533T>G (p.Leu2178Arg)
c.2285T>G (p.Leu762Arg)
c.5513T>G (p.Leu1838Arg)
8g.99717370A>CCA462440326VPS13Bc.6729A>C (p.Leu2243=)
n.6799A>C
c.*2411A>C (n.*2411A>C)
c.6654A>C (p.Leu2218=)
c.6726A>C (p.Leu2242=)
c.6651A>C (p.Leu2217=)
c.6351A>C (p.Leu2117=)
c.3615A>C (p.Leu1205=)
c.2508A>C (p.Leu836=)
c.6534A>C (p.Leu2178=)
c.2286A>C (p.Leu762=)
c.5514A>C (p.Leu1838=)
8g.99717370A>GCA183029025VPS13Bc.6729A>G (p.Leu2243=)
n.6799A>G
c.*2411A>G (n.*2411A>G)
c.6654A>G (p.Leu2218=)
c.6726A>G (p.Leu2242=)
c.6651A>G (p.Leu2217=)
c.6351A>G (p.Leu2117=)
c.3615A>G (p.Leu1205=)
c.2508A>G (p.Leu836=)
c.6534A>G (p.Leu2178=)
c.2286A>G (p.Leu762=)
c.5514A>G (p.Leu1838=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717370A>TCA462440327VPS13Bc.6729A>T (p.Leu2243=)
n.6799A>T
c.*2411A>T (n.*2411A>T)
c.6654A>T (p.Leu2218=)
c.6726A>T (p.Leu2242=)
c.6651A>T (p.Leu2217=)
c.6351A>T (p.Leu2117=)
c.3615A>T (p.Leu1205=)
c.2508A>T (p.Leu836=)
c.6534A>T (p.Leu2178=)
c.2286A>T (p.Leu762=)
c.5514A>T (p.Leu1838=)
8g.99717371C>ACA371867499VPS13Bc.6730C>A (p.Gln2244Lys)
n.6800C>A
c.*2412C>A (n.*2412C>A)
c.6655C>A (p.Gln2219Lys)
c.6727C>A (p.Gln2243Lys)
c.6652C>A (p.Gln2218Lys)
c.6352C>A (p.Gln2118Lys)
c.3616C>A (p.Gln1206Lys)
c.2509C>A (p.Gln837Lys)
c.6535C>A (p.Gln2179Lys)
c.2287C>A (p.Gln763Lys)
c.5515C>A (p.Gln1839Lys)
 gnomAD v4
8g.99717371C>GCA371867500VPS13Bc.6730C>G (p.Gln2244Glu)
n.6800C>G
c.*2412C>G (n.*2412C>G)
c.6655C>G (p.Gln2219Glu)
c.6727C>G (p.Gln2243Glu)
c.6652C>G (p.Gln2218Glu)
c.6352C>G (p.Gln2118Glu)
c.3616C>G (p.Gln1206Glu)
c.2509C>G (p.Gln837Glu)
c.6535C>G (p.Gln2179Glu)
c.2287C>G (p.Gln763Glu)
c.5515C>G (p.Gln1839Glu)
8g.99717371C>TCA16041246VPS13Bc.6730C>T (p.Gln2244Ter)
n.6800C>T
c.*2412C>T (n.*2412C>T)
c.6655C>T (p.Gln2219Ter)
c.6727C>T (p.Gln2243Ter)
c.6652C>T (p.Gln2218Ter)
c.6352C>T (p.Gln2118Ter)
c.3616C>T (p.Gln1206Ter)
c.2509C>T (p.Gln837Ter)
c.6535C>T (p.Gln2179Ter)
c.2287C>T (p.Gln763Ter)
c.5515C>T (p.Gln1839Ter)
 ClinVar dbSNP
8g.99717372A>CCA371867501VPS13Bc.6731A>C (p.Gln2244Pro)
n.6801A>C
c.*2413A>C (n.*2413A>C)
c.6656A>C (p.Gln2219Pro)
c.6728A>C (p.Gln2243Pro)
c.6653A>C (p.Gln2218Pro)
c.6353A>C (p.Gln2118Pro)
c.3617A>C (p.Gln1206Pro)
c.2510A>C (p.Gln837Pro)
c.6536A>C (p.Gln2179Pro)
c.2288A>C (p.Gln763Pro)
c.5516A>C (p.Gln1839Pro)
8g.99717372A>GCA4824048VPS13Bc.6731A>G (p.Gln2244Arg)
n.6801A>G
c.*2413A>G (n.*2413A>G)
c.6656A>G (p.Gln2219Arg)
c.6728A>G (p.Gln2243Arg)
c.6653A>G (p.Gln2218Arg)
c.6353A>G (p.Gln2118Arg)
c.3617A>G (p.Gln1206Arg)
c.2510A>G (p.Gln837Arg)
c.6536A>G (p.Gln2179Arg)
c.2288A>G (p.Gln763Arg)
c.5516A>G (p.Gln1839Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717372A>TCA371867502VPS13Bc.6731A>T (p.Gln2244Leu)
n.6801A>T
c.*2413A>T (n.*2413A>T)
c.6656A>T (p.Gln2219Leu)
c.6728A>T (p.Gln2243Leu)
c.6653A>T (p.Gln2218Leu)
c.6353A>T (p.Gln2118Leu)
c.3617A>T (p.Gln1206Leu)
c.2510A>T (p.Gln837Leu)
c.6536A>T (p.Gln2179Leu)
c.2288A>T (p.Gln763Leu)
c.5516A>T (p.Gln1839Leu)
8g.99717373G>ACA462440328VPS13Bc.6732G>A (p.Gln2244=)
n.6802G>A
c.*2414G>A (n.*2414G>A)
c.6657G>A (p.Gln2219=)
c.6729G>A (p.Gln2243=)
c.6654G>A (p.Gln2218=)
c.6354G>A (p.Gln2118=)
c.3618G>A (p.Gln1206=)
c.2511G>A (p.Gln837=)
c.6537G>A (p.Gln2179=)
c.2289G>A (p.Gln763=)
c.5517G>A (p.Gln1839=)
 dbSNP gnomAD v2 gnomAD v4
8g.99717373G>CCA371867503VPS13Bc.6732G>C (p.Gln2244His)
n.6802G>C
c.*2414G>C (n.*2414G>C)
c.6657G>C (p.Gln2219His)
c.6729G>C (p.Gln2243His)
c.6654G>C (p.Gln2218His)
c.6354G>C (p.Gln2118His)
c.3618G>C (p.Gln1206His)
c.2511G>C (p.Gln837His)
c.6537G>C (p.Gln2179His)
c.2289G>C (p.Gln763His)
c.5517G>C (p.Gln1839His)
8g.99717373G>TCA371867504VPS13Bc.6732G>T (p.Gln2244His)
n.6802G>T
c.*2414G>T (n.*2414G>T)
c.6657G>T (p.Gln2219His)
c.6729G>T (p.Gln2243His)
c.6654G>T (p.Gln2218His)
c.6354G>T (p.Gln2118His)
c.3618G>T (p.Gln1206His)
c.2511G>T (p.Gln837His)
c.6537G>T (p.Gln2179His)
c.2289G>T (p.Gln763His)
c.5517G>T (p.Gln1839His)
8g.99717374G>ACA264113VPS13Bc.6732+1G>A (n.6732+1G>A)
n.6802+1G>A
c.*2414+1G>A (n.*2414+1G>A)
c.6657+1G>A (n.6657+1G>A)
c.6729+1G>A (n.6729+1G>A)
c.6654+1G>A (n.6654+1G>A)
c.6354+1G>A (n.6354+1G>A)
c.3618+1G>A (n.3618+1G>A)
c.2511+1G>A (n.2511+1G>A)
c.6537+1G>A (n.6537+1G>A)
c.2289+1G>A (n.2289+1G>A)
c.5517+1G>A (n.5517+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717374G>CCA371867506VPS13Bc.6732+1G>C (n.6732+1G>C)
n.6802+1G>C
c.*2414+1G>C (n.*2414+1G>C)
c.6657+1G>C (n.6657+1G>C)
c.6729+1G>C (n.6729+1G>C)
c.6654+1G>C (n.6654+1G>C)
c.6354+1G>C (n.6354+1G>C)
c.3618+1G>C (n.3618+1G>C)
c.2511+1G>C (n.2511+1G>C)
c.6537+1G>C (n.6537+1G>C)
c.2289+1G>C (n.2289+1G>C)
c.5517+1G>C (n.5517+1G>C)
8g.99717374G>TCA371867505VPS13Bc.6732+1G>T (n.6732+1G>T)
n.6802+1G>T
c.*2414+1G>T (n.*2414+1G>T)
c.6657+1G>T (n.6657+1G>T)
c.6729+1G>T (n.6729+1G>T)
c.6654+1G>T (n.6654+1G>T)
c.6354+1G>T (n.6354+1G>T)
c.3618+1G>T (n.3618+1G>T)
c.2511+1G>T (n.2511+1G>T)
c.6537+1G>T (n.6537+1G>T)
c.2289+1G>T (n.2289+1G>T)
c.5517+1G>T (n.5517+1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99717375T>ACA371867508VPS13Bc.6732+2T>A (n.6732+2T>A)
n.6802+2T>A
c.*2414+2T>A (n.*2414+2T>A)
c.6657+2T>A (n.6657+2T>A)
c.6729+2T>A (n.6729+2T>A)
c.6654+2T>A (n.6654+2T>A)
c.6354+2T>A (n.6354+2T>A)
c.3618+2T>A (n.3618+2T>A)
c.2511+2T>A (n.2511+2T>A)
c.6537+2T>A (n.6537+2T>A)
c.2289+2T>A (n.2289+2T>A)
c.5517+2T>A (n.5517+2T>A)
8g.99717375T>CCA371867507VPS13Bc.6732+2T>C (n.6732+2T>C)
n.6802+2T>C
c.*2414+2T>C (n.*2414+2T>C)
c.6657+2T>C (n.6657+2T>C)
c.6729+2T>C (n.6729+2T>C)
c.6654+2T>C (n.6654+2T>C)
c.6354+2T>C (n.6354+2T>C)
c.3618+2T>C (n.3618+2T>C)
c.2511+2T>C (n.2511+2T>C)
c.6537+2T>C (n.6537+2T>C)
c.2289+2T>C (n.2289+2T>C)
c.5517+2T>C (n.5517+2T>C)
 ClinVar dbSNP
8g.99717375T>GCA371867509VPS13Bc.6732+2T>G (n.6732+2T>G)
n.6802+2T>G
c.*2414+2T>G (n.*2414+2T>G)
c.6657+2T>G (n.6657+2T>G)
c.6729+2T>G (n.6729+2T>G)
c.6654+2T>G (n.6654+2T>G)
c.6354+2T>G (n.6354+2T>G)
c.3618+2T>G (n.3618+2T>G)
c.2511+2T>G (n.2511+2T>G)
c.6537+2T>G (n.6537+2T>G)
c.2289+2T>G (n.2289+2T>G)
c.5517+2T>G (n.5517+2T>G)
8g.99717376C>TCA2580617208VPS13Bc.6732+3C>T (n.6732+3C>T)
n.6802+3C>T
c.*2414+3C>T (n.*2414+3C>T)
c.6657+3C>T (n.6657+3C>T)
c.6729+3C>T (n.6729+3C>T)
c.6654+3C>T (n.6654+3C>T)
c.6354+3C>T (n.6354+3C>T)
c.3618+3C>T (n.3618+3C>T)
c.2511+3C>T (n.2511+3C>T)
c.6537+3C>T (n.6537+3C>T)
c.2289+3C>T (n.2289+3C>T)
c.5517+3C>T (n.5517+3C>T)
 ClinVar
8g.99717377T>ACA2688067393VPS13Bc.6732+4T>A (n.6732+4T>A)
n.6802+4T>A
c.*2414+4T>A (n.*2414+4T>A)
c.6657+4T>A (n.6657+4T>A)
c.6729+4T>A (n.6729+4T>A)
c.6654+4T>A (n.6654+4T>A)
c.6354+4T>A (n.6354+4T>A)
c.3618+4T>A (n.3618+4T>A)
c.2511+4T>A (n.2511+4T>A)
c.6537+4T>A (n.6537+4T>A)
c.2289+4T>A (n.2289+4T>A)
c.5517+4T>A (n.5517+4T>A)
 gnomAD v4
8g.99717378G>TCA2688067394VPS13Bc.6732+5G>T (n.6732+5G>T)
n.6802+5G>T
c.*2414+5G>T (n.*2414+5G>T)
c.6657+5G>T (n.6657+5G>T)
c.6729+5G>T (n.6729+5G>T)
c.6654+5G>T (n.6654+5G>T)
c.6354+5G>T (n.6354+5G>T)
c.3618+5G>T (n.3618+5G>T)
c.2511+5G>T (n.2511+5G>T)
c.6537+5G>T (n.6537+5G>T)
c.2289+5G>T (n.2289+5G>T)
c.5517+5G>T (n.5517+5G>T)
 gnomAD v4
8g.99717379_99717381delCA2781476759VPS13Bc.6732+6_6732+8del (n.6732+6_6732+8del)
n.6802+6_6802+8del
c.*2414+6_*2414+8del (n.*2414+6_*2414+8del)
c.6657+6_6657+8del (n.6657+6_6657+8del)
c.6729+6_6729+8del (n.6729+6_6729+8del)
c.6654+6_6654+8del (n.6654+6_6654+8del)
c.6354+6_6354+8del (n.6354+6_6354+8del)
c.3618+6_3618+8del (n.3618+6_3618+8del)
c.2511+6_2511+8del (n.2511+6_2511+8del)
c.6537+6_6537+8del (n.6537+6_6537+8del)
c.2289+6_2289+8del (n.2289+6_2289+8del)
c.5517+6_5517+8del (n.5517+6_5517+8del)

Number of alleles fetched