Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99717179C>ACA371867092VPS13Bc.6538C>A (p.Leu2180Ile)
n.6608C>A
c.*2220C>A (n.*2220C>A)
c.6463C>A (p.Leu2155Ile)
c.6535C>A (p.Leu2179Ile)
c.6460C>A (p.Leu2154Ile)
c.6160C>A (p.Leu2054Ile)
c.3424C>A (p.Leu1142Ile)
c.2317C>A (p.Leu773Ile)
c.6343C>A (p.Leu2115Ile)
c.2095C>A (p.Leu699Ile)
c.5323C>A (p.Leu1775Ile)
 dbSNP
8g.99717179C>GCA371867093VPS13Bc.6538C>G (p.Leu2180Val)
n.6608C>G
c.*2220C>G (n.*2220C>G)
c.6463C>G (p.Leu2155Val)
c.6535C>G (p.Leu2179Val)
c.6460C>G (p.Leu2154Val)
c.6160C>G (p.Leu2054Val)
c.3424C>G (p.Leu1142Val)
c.2317C>G (p.Leu773Val)
c.6343C>G (p.Leu2115Val)
c.2095C>G (p.Leu699Val)
c.5323C>G (p.Leu1775Val)
8g.99717179C>TCA371867094VPS13Bc.6538C>T (p.Leu2180Phe)
n.6608C>T
c.*2220C>T (n.*2220C>T)
c.6463C>T (p.Leu2155Phe)
c.6535C>T (p.Leu2179Phe)
c.6460C>T (p.Leu2154Phe)
c.6160C>T (p.Leu2054Phe)
c.3424C>T (p.Leu1142Phe)
c.2317C>T (p.Leu773Phe)
c.6343C>T (p.Leu2115Phe)
c.2095C>T (p.Leu699Phe)
c.5323C>T (p.Leu1775Phe)
8g.99717180T>ACA371867095VPS13Bc.6539T>A (p.Leu2180His)
n.6609T>A
c.*2221T>A (n.*2221T>A)
c.6464T>A (p.Leu2155His)
c.6536T>A (p.Leu2179His)
c.6461T>A (p.Leu2154His)
c.6161T>A (p.Leu2054His)
c.3425T>A (p.Leu1142His)
c.2318T>A (p.Leu773His)
c.6344T>A (p.Leu2115His)
c.2096T>A (p.Leu699His)
c.5324T>A (p.Leu1775His)
8g.99717180T>CCA371867096VPS13Bc.6539T>C (p.Leu2180Pro)
n.6609T>C
c.*2221T>C (n.*2221T>C)
c.6464T>C (p.Leu2155Pro)
c.6536T>C (p.Leu2179Pro)
c.6461T>C (p.Leu2154Pro)
c.6161T>C (p.Leu2054Pro)
c.3425T>C (p.Leu1142Pro)
c.2318T>C (p.Leu773Pro)
c.6344T>C (p.Leu2115Pro)
c.2096T>C (p.Leu699Pro)
c.5324T>C (p.Leu1775Pro)
8g.99717180T>GCA371867097VPS13Bc.6539T>G (p.Leu2180Arg)
n.6609T>G
c.*2221T>G (n.*2221T>G)
c.6464T>G (p.Leu2155Arg)
c.6536T>G (p.Leu2179Arg)
c.6461T>G (p.Leu2154Arg)
c.6161T>G (p.Leu2054Arg)
c.3425T>G (p.Leu1142Arg)
c.2318T>G (p.Leu773Arg)
c.6344T>G (p.Leu2115Arg)
c.2096T>G (p.Leu699Arg)
c.5324T>G (p.Leu1775Arg)
8g.99717181T>ACA462440196VPS13Bc.6540T>A (p.Leu2180=)
n.6610T>A
c.*2222T>A (n.*2222T>A)
c.6465T>A (p.Leu2155=)
c.6537T>A (p.Leu2179=)
c.6462T>A (p.Leu2154=)
c.6162T>A (p.Leu2054=)
c.3426T>A (p.Leu1142=)
c.2319T>A (p.Leu773=)
c.6345T>A (p.Leu2115=)
c.2097T>A (p.Leu699=)
c.5325T>A (p.Leu1775=)
8g.99717181T>CCA462440197VPS13Bc.6540T>C (p.Leu2180=)
n.6610T>C
c.*2222T>C (n.*2222T>C)
c.6465T>C (p.Leu2155=)
c.6537T>C (p.Leu2179=)
c.6462T>C (p.Leu2154=)
c.6162T>C (p.Leu2054=)
c.3426T>C (p.Leu1142=)
c.2319T>C (p.Leu773=)
c.6345T>C (p.Leu2115=)
c.2097T>C (p.Leu699=)
c.5325T>C (p.Leu1775=)
8g.99717181T>GCA462440198VPS13Bc.6540T>G (p.Leu2180=)
n.6610T>G
c.*2222T>G (n.*2222T>G)
c.6465T>G (p.Leu2155=)
c.6537T>G (p.Leu2179=)
c.6462T>G (p.Leu2154=)
c.6162T>G (p.Leu2054=)
c.3426T>G (p.Leu1142=)
c.2319T>G (p.Leu773=)
c.6345T>G (p.Leu2115=)
c.2097T>G (p.Leu699=)
c.5325T>G (p.Leu1775=)
8g.99717182G>ACA371867099VPS13Bc.6541G>A (p.Gly2181Arg)
n.6611G>A
c.*2223G>A (n.*2223G>A)
c.6466G>A (p.Gly2156Arg)
c.6538G>A (p.Gly2180Arg)
c.6463G>A (p.Gly2155Arg)
c.6163G>A (p.Gly2055Arg)
c.3427G>A (p.Gly1143Arg)
c.2320G>A (p.Gly774Arg)
c.6346G>A (p.Gly2116Arg)
c.2098G>A (p.Gly700Arg)
c.5326G>A (p.Gly1776Arg)
8g.99717182G>CCA371867100VPS13Bc.6541G>C (p.Gly2181Arg)
n.6611G>C
c.*2223G>C (n.*2223G>C)
c.6466G>C (p.Gly2156Arg)
c.6538G>C (p.Gly2180Arg)
c.6463G>C (p.Gly2155Arg)
c.6163G>C (p.Gly2055Arg)
c.3427G>C (p.Gly1143Arg)
c.2320G>C (p.Gly774Arg)
c.6346G>C (p.Gly2116Arg)
c.2098G>C (p.Gly700Arg)
c.5326G>C (p.Gly1776Arg)
 gnomAD v4
8g.99717182G>TCA371867098VPS13Bc.6541G>T (p.Gly2181Trp)
n.6611G>T
c.*2223G>T (n.*2223G>T)
c.6466G>T (p.Gly2156Trp)
c.6538G>T (p.Gly2180Trp)
c.6463G>T (p.Gly2155Trp)
c.6163G>T (p.Gly2055Trp)
c.3427G>T (p.Gly1143Trp)
c.2320G>T (p.Gly774Trp)
c.6346G>T (p.Gly2116Trp)
c.2098G>T (p.Gly700Trp)
c.5326G>T (p.Gly1776Trp)
 dbSNP gnomAD v2
8g.99717183G>ACA371867101VPS13Bc.6542G>A (p.Gly2181Glu)
n.6612G>A
c.*2224G>A (n.*2224G>A)
c.6467G>A (p.Gly2156Glu)
c.6539G>A (p.Gly2180Glu)
c.6464G>A (p.Gly2155Glu)
c.6164G>A (p.Gly2055Glu)
c.3428G>A (p.Gly1143Glu)
c.2321G>A (p.Gly774Glu)
c.6347G>A (p.Gly2116Glu)
c.2099G>A (p.Gly700Glu)
c.5327G>A (p.Gly1776Glu)
 COSMIC COSMIC
8g.99717183G>CCA371867102VPS13Bc.6542G>C (p.Gly2181Ala)
n.6612G>C
c.*2224G>C (n.*2224G>C)
c.6467G>C (p.Gly2156Ala)
c.6539G>C (p.Gly2180Ala)
c.6464G>C (p.Gly2155Ala)
c.6164G>C (p.Gly2055Ala)
c.3428G>C (p.Gly1143Ala)
c.2321G>C (p.Gly774Ala)
c.6347G>C (p.Gly2116Ala)
c.2099G>C (p.Gly700Ala)
c.5327G>C (p.Gly1776Ala)
8g.99717183G>TCA371867103VPS13Bc.6542G>T (p.Gly2181Val)
n.6612G>T
c.*2224G>T (n.*2224G>T)
c.6467G>T (p.Gly2156Val)
c.6539G>T (p.Gly2180Val)
c.6464G>T (p.Gly2155Val)
c.6164G>T (p.Gly2055Val)
c.3428G>T (p.Gly1143Val)
c.2321G>T (p.Gly774Val)
c.6347G>T (p.Gly2116Val)
c.2099G>T (p.Gly700Val)
c.5327G>T (p.Gly1776Val)
8g.99717184G>ACA462440200VPS13Bc.6543G>A (p.Gly2181=)
n.6613G>A
c.*2225G>A (n.*2225G>A)
c.6468G>A (p.Gly2156=)
c.6540G>A (p.Gly2180=)
c.6465G>A (p.Gly2155=)
c.6165G>A (p.Gly2055=)
c.3429G>A (p.Gly1143=)
c.2322G>A (p.Gly774=)
c.6348G>A (p.Gly2116=)
c.2100G>A (p.Gly700=)
c.5328G>A (p.Gly1776=)
 dbSNP gnomAD v4
8g.99717184G>CCA462440201VPS13Bc.6543G>C (p.Gly2181=)
n.6613G>C
c.*2225G>C (n.*2225G>C)
c.6468G>C (p.Gly2156=)
c.6540G>C (p.Gly2180=)
c.6465G>C (p.Gly2155=)
c.6165G>C (p.Gly2055=)
c.3429G>C (p.Gly1143=)
c.2322G>C (p.Gly774=)
c.6348G>C (p.Gly2116=)
c.2100G>C (p.Gly700=)
c.5328G>C (p.Gly1776=)
8g.99717184G>TCA462440199VPS13Bc.6543G>T (p.Gly2181=)
n.6613G>T
c.*2225G>T (n.*2225G>T)
c.6468G>T (p.Gly2156=)
c.6540G>T (p.Gly2180=)
c.6465G>T (p.Gly2155=)
c.6165G>T (p.Gly2055=)
c.3429G>T (p.Gly1143=)
c.2322G>T (p.Gly774=)
c.6348G>T (p.Gly2116=)
c.2100G>T (p.Gly700=)
c.5328G>T (p.Gly1776=)
8g.99717185T>ACA371867104VPS13Bc.6544T>A (p.Ser2182Thr)
n.6614T>A
c.*2226T>A (n.*2226T>A)
c.6469T>A (p.Ser2157Thr)
c.6541T>A (p.Ser2181Thr)
c.6466T>A (p.Ser2156Thr)
c.6166T>A (p.Ser2056Thr)
c.3430T>A (p.Ser1144Thr)
c.2323T>A (p.Ser775Thr)
c.6349T>A (p.Ser2117Thr)
c.2101T>A (p.Ser701Thr)
c.5329T>A (p.Ser1777Thr)
8g.99717185T>CCA371867105VPS13Bc.6544T>C (p.Ser2182Pro)
n.6614T>C
c.*2226T>C (n.*2226T>C)
c.6469T>C (p.Ser2157Pro)
c.6541T>C (p.Ser2181Pro)
c.6466T>C (p.Ser2156Pro)
c.6166T>C (p.Ser2056Pro)
c.3430T>C (p.Ser1144Pro)
c.2323T>C (p.Ser775Pro)
c.6349T>C (p.Ser2117Pro)
c.2101T>C (p.Ser701Pro)
c.5329T>C (p.Ser1777Pro)
8g.99717185T>GCA371867106VPS13Bc.6544T>G (p.Ser2182Ala)
n.6614T>G
c.*2226T>G (n.*2226T>G)
c.6469T>G (p.Ser2157Ala)
c.6541T>G (p.Ser2181Ala)
c.6466T>G (p.Ser2156Ala)
c.6166T>G (p.Ser2056Ala)
c.3430T>G (p.Ser1144Ala)
c.2323T>G (p.Ser775Ala)
c.6349T>G (p.Ser2117Ala)
c.2101T>G (p.Ser701Ala)
c.5329T>G (p.Ser1777Ala)
8g.99717189_99717191delCA2497230336VPS13Bc.6548_6550del (p.Ser2183del)
n.6618_6620del
c.*2230_*2232del (n.*2230_*2232del)
c.6473_6475del (p.Ser2158del)
c.6545_6547del (p.Ser2182del)
c.6470_6472del (p.Ser2157del)
c.6170_6172del (p.Ser2057del)
c.3434_3436del (p.Ser1145del)
c.2327_2329del (p.Ser776del)
c.6353_6355del (p.Ser2118del)
c.2105_2107del (p.Ser702del)
c.5333_5335del (p.Ser1778del)
 dbSNP
8g.99717186C>ACA16041244VPS13Bc.6545C>A (p.Ser2182Ter)
n.6615C>A
c.*2227C>A (n.*2227C>A)
c.6470C>A (p.Ser2157Ter)
c.6542C>A (p.Ser2181Ter)
c.6467C>A (p.Ser2156Ter)
c.6167C>A (p.Ser2056Ter)
c.3431C>A (p.Ser1144Ter)
c.2324C>A (p.Ser775Ter)
c.6350C>A (p.Ser2117Ter)
c.2102C>A (p.Ser701Ter)
c.5330C>A (p.Ser1777Ter)
 ClinVar dbSNP gnomAD v4
8g.99717186C>GCA371867108VPS13Bc.6545C>G (p.Ser2182Ter)
n.6615C>G
c.*2227C>G (n.*2227C>G)
c.6470C>G (p.Ser2157Ter)
c.6542C>G (p.Ser2181Ter)
c.6467C>G (p.Ser2156Ter)
c.6167C>G (p.Ser2056Ter)
c.3431C>G (p.Ser1144Ter)
c.2324C>G (p.Ser775Ter)
c.6350C>G (p.Ser2117Ter)
c.2102C>G (p.Ser701Ter)
c.5330C>G (p.Ser1777Ter)
 ClinVar
8g.99717186C>TCA371867107VPS13Bc.6545C>T (p.Ser2182Leu)
n.6615C>T
c.*2227C>T (n.*2227C>T)
c.6470C>T (p.Ser2157Leu)
c.6542C>T (p.Ser2181Leu)
c.6467C>T (p.Ser2156Leu)
c.6167C>T (p.Ser2056Leu)
c.3431C>T (p.Ser1144Leu)
c.2324C>T (p.Ser775Leu)
c.6350C>T (p.Ser2117Leu)
c.2102C>T (p.Ser701Leu)
c.5330C>T (p.Ser1777Leu)
8g.99717187A>CCA462440203VPS13Bc.6546A>C (p.Ser2182=)
n.6616A>C
c.*2228A>C (n.*2228A>C)
c.6471A>C (p.Ser2157=)
c.6543A>C (p.Ser2181=)
c.6468A>C (p.Ser2156=)
c.6168A>C (p.Ser2056=)
c.3432A>C (p.Ser1144=)
c.2325A>C (p.Ser775=)
c.6351A>C (p.Ser2117=)
c.2103A>C (p.Ser701=)
c.5331A>C (p.Ser1777=)
8g.99717187A>GCA4824010VPS13Bc.6546A>G (p.Ser2182=)
n.6616A>G
c.*2228A>G (n.*2228A>G)
c.6471A>G (p.Ser2157=)
c.6543A>G (p.Ser2181=)
c.6468A>G (p.Ser2156=)
c.6168A>G (p.Ser2056=)
c.3432A>G (p.Ser1144=)
c.2325A>G (p.Ser775=)
c.6351A>G (p.Ser2117=)
c.2103A>G (p.Ser701=)
c.5331A>G (p.Ser1777=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717187A>TCA462440202VPS13Bc.6546A>T (p.Ser2182=)
n.6616A>T
c.*2228A>T (n.*2228A>T)
c.6471A>T (p.Ser2157=)
c.6543A>T (p.Ser2181=)
c.6468A>T (p.Ser2156=)
c.6168A>T (p.Ser2056=)
c.3432A>T (p.Ser1144=)
c.2325A>T (p.Ser775=)
c.6351A>T (p.Ser2117=)
c.2103A>T (p.Ser701=)
c.5331A>T (p.Ser1777=)
8g.99717188T>ACA371867109VPS13Bc.6547T>A (p.Ser2183Thr)
n.6617T>A
c.*2229T>A (n.*2229T>A)
c.6472T>A (p.Ser2158Thr)
c.6544T>A (p.Ser2182Thr)
c.6469T>A (p.Ser2157Thr)
c.6169T>A (p.Ser2057Thr)
c.3433T>A (p.Ser1145Thr)
c.2326T>A (p.Ser776Thr)
c.6352T>A (p.Ser2118Thr)
c.2104T>A (p.Ser702Thr)
c.5332T>A (p.Ser1778Thr)
 COSMIC COSMIC
8g.99717188T>CCA371867110VPS13Bc.6547T>C (p.Ser2183Pro)
n.6617T>C
c.*2229T>C (n.*2229T>C)
c.6472T>C (p.Ser2158Pro)
c.6544T>C (p.Ser2182Pro)
c.6469T>C (p.Ser2157Pro)
c.6169T>C (p.Ser2057Pro)
c.3433T>C (p.Ser1145Pro)
c.2326T>C (p.Ser776Pro)
c.6352T>C (p.Ser2118Pro)
c.2104T>C (p.Ser702Pro)
c.5332T>C (p.Ser1778Pro)
8g.99717188T>GCA371867111VPS13Bc.6547T>G (p.Ser2183Ala)
n.6617T>G
c.*2229T>G (n.*2229T>G)
c.6472T>G (p.Ser2158Ala)
c.6544T>G (p.Ser2182Ala)
c.6469T>G (p.Ser2157Ala)
c.6169T>G (p.Ser2057Ala)
c.3433T>G (p.Ser1145Ala)
c.2326T>G (p.Ser776Ala)
c.6352T>G (p.Ser2118Ala)
c.2104T>G (p.Ser702Ala)
c.5332T>G (p.Ser1778Ala)
8g.99717189C>ACA371867112VPS13Bc.6548C>A (p.Ser2183Ter)
n.6618C>A
c.*2230C>A (n.*2230C>A)
c.6473C>A (p.Ser2158Ter)
c.6545C>A (p.Ser2182Ter)
c.6470C>A (p.Ser2157Ter)
c.6170C>A (p.Ser2057Ter)
c.3434C>A (p.Ser1145Ter)
c.2327C>A (p.Ser776Ter)
c.6353C>A (p.Ser2118Ter)
c.2105C>A (p.Ser702Ter)
c.5333C>A (p.Ser1778Ter)
8g.99717189C>GCA4824011VPS13Bc.6548C>G (p.Ser2183Ter)
n.6618C>G
c.*2230C>G (n.*2230C>G)
c.6473C>G (p.Ser2158Ter)
c.6545C>G (p.Ser2182Ter)
c.6470C>G (p.Ser2157Ter)
c.6170C>G (p.Ser2057Ter)
c.3434C>G (p.Ser1145Ter)
c.2327C>G (p.Ser776Ter)
c.6353C>G (p.Ser2118Ter)
c.2105C>G (p.Ser702Ter)
c.5333C>G (p.Ser1778Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717189C>TCA371867113VPS13Bc.6548C>T (p.Ser2183Leu)
n.6618C>T
c.*2230C>T (n.*2230C>T)
c.6473C>T (p.Ser2158Leu)
c.6545C>T (p.Ser2182Leu)
c.6470C>T (p.Ser2157Leu)
c.6170C>T (p.Ser2057Leu)
c.3434C>T (p.Ser1145Leu)
c.2327C>T (p.Ser776Leu)
c.6353C>T (p.Ser2118Leu)
c.2105C>T (p.Ser702Leu)
c.5333C>T (p.Ser1778Leu)
8g.99717190A>CCA462440206VPS13Bc.6549A>C (p.Ser2183=)
n.6619A>C
c.*2231A>C (n.*2231A>C)
c.6474A>C (p.Ser2158=)
c.6546A>C (p.Ser2182=)
c.6471A>C (p.Ser2157=)
c.6171A>C (p.Ser2057=)
c.3435A>C (p.Ser1145=)
c.2328A>C (p.Ser776=)
c.6354A>C (p.Ser2118=)
c.2106A>C (p.Ser702=)
c.5334A>C (p.Ser1778=)
8g.99717190A>GCA462440210VPS13Bc.6549A>G (p.Ser2183=)
n.6619A>G
c.*2231A>G (n.*2231A>G)
c.6474A>G (p.Ser2158=)
c.6546A>G (p.Ser2182=)
c.6471A>G (p.Ser2157=)
c.6171A>G (p.Ser2057=)
c.3435A>G (p.Ser1145=)
c.2328A>G (p.Ser776=)
c.6354A>G (p.Ser2118=)
c.2106A>G (p.Ser702=)
c.5334A>G (p.Ser1778=)
8g.99717190A>TCA462440208VPS13Bc.6549A>T (p.Ser2183=)
n.6619A>T
c.*2231A>T (n.*2231A>T)
c.6474A>T (p.Ser2158=)
c.6546A>T (p.Ser2182=)
c.6471A>T (p.Ser2157=)
c.6171A>T (p.Ser2057=)
c.3435A>T (p.Ser1145=)
c.2328A>T (p.Ser776=)
c.6354A>T (p.Ser2118=)
c.2106A>T (p.Ser702=)
c.5334A>T (p.Ser1778=)
8g.99717191T>ACA371867114VPS13Bc.6550T>A (p.Phe2184Ile)
n.6620T>A
c.*2232T>A (n.*2232T>A)
c.6475T>A (p.Phe2159Ile)
c.6547T>A (p.Phe2183Ile)
c.6472T>A (p.Phe2158Ile)
c.6172T>A (p.Phe2058Ile)
c.3436T>A (p.Phe1146Ile)
c.2329T>A (p.Phe777Ile)
c.6355T>A (p.Phe2119Ile)
c.2107T>A (p.Phe703Ile)
c.5335T>A (p.Phe1779Ile)
8g.99717191T>CCA371867116VPS13Bc.6550T>C (p.Phe2184Leu)
n.6620T>C
c.*2232T>C (n.*2232T>C)
c.6475T>C (p.Phe2159Leu)
c.6547T>C (p.Phe2183Leu)
c.6472T>C (p.Phe2158Leu)
c.6172T>C (p.Phe2058Leu)
c.3436T>C (p.Phe1146Leu)
c.2329T>C (p.Phe777Leu)
c.6355T>C (p.Phe2119Leu)
c.2107T>C (p.Phe703Leu)
c.5335T>C (p.Phe1779Leu)
8g.99717191T>GCA371867115VPS13Bc.6550T>G (p.Phe2184Val)
n.6620T>G
c.*2232T>G (n.*2232T>G)
c.6475T>G (p.Phe2159Val)
c.6547T>G (p.Phe2183Val)
c.6472T>G (p.Phe2158Val)
c.6172T>G (p.Phe2058Val)
c.3436T>G (p.Phe1146Val)
c.2329T>G (p.Phe777Val)
c.6355T>G (p.Phe2119Val)
c.2107T>G (p.Phe703Val)
c.5335T>G (p.Phe1779Val)
8g.99717193dupCA2688067385VPS13Bc.6552dup (p.Leu2185SerfsTer10)
n.6622dup
c.*2234dup (n.*2234dup)
c.6477dup (p.Leu2160SerfsTer10)
c.6549dup (p.Leu2184SerfsTer10)
c.6474dup (p.Leu2159SerfsTer10)
c.6174dup (p.Leu2059SerfsTer10)
c.3438dup (p.Leu1147SerfsTer10)
c.2331dup (p.Leu778SerfsTer10)
c.6357dup (p.Leu2120SerfsTer10)
c.2109dup (p.Leu704SerfsTer10)
c.5337dup (p.Leu1780SerfsTer10)
 gnomAD v4
8g.99717192T>ACA371867117VPS13Bc.6551T>A (p.Phe2184Tyr)
n.6621T>A
c.*2233T>A (n.*2233T>A)
c.6476T>A (p.Phe2159Tyr)
c.6548T>A (p.Phe2183Tyr)
c.6473T>A (p.Phe2158Tyr)
c.6173T>A (p.Phe2058Tyr)
c.3437T>A (p.Phe1146Tyr)
c.2330T>A (p.Phe777Tyr)
c.6356T>A (p.Phe2119Tyr)
c.2108T>A (p.Phe703Tyr)
c.5336T>A (p.Phe1779Tyr)
8g.99717192T>CCA371867118VPS13Bc.6551T>C (p.Phe2184Ser)
n.6621T>C
c.*2233T>C (n.*2233T>C)
c.6476T>C (p.Phe2159Ser)
c.6548T>C (p.Phe2183Ser)
c.6473T>C (p.Phe2158Ser)
c.6173T>C (p.Phe2058Ser)
c.3437T>C (p.Phe1146Ser)
c.2330T>C (p.Phe777Ser)
c.6356T>C (p.Phe2119Ser)
c.2108T>C (p.Phe703Ser)
c.5336T>C (p.Phe1779Ser)
8g.99717192T>GCA371867119VPS13Bc.6551T>G (p.Phe2184Cys)
n.6621T>G
c.*2233T>G (n.*2233T>G)
c.6476T>G (p.Phe2159Cys)
c.6548T>G (p.Phe2183Cys)
c.6473T>G (p.Phe2158Cys)
c.6173T>G (p.Phe2058Cys)
c.3437T>G (p.Phe1146Cys)
c.2330T>G (p.Phe777Cys)
c.6356T>G (p.Phe2119Cys)
c.2108T>G (p.Phe703Cys)
c.5336T>G (p.Phe1779Cys)
8g.99717193T>ACA371867120VPS13Bc.6552T>A (p.Phe2184Leu)
n.6622T>A
c.*2234T>A (n.*2234T>A)
c.6477T>A (p.Phe2159Leu)
c.6549T>A (p.Phe2183Leu)
c.6474T>A (p.Phe2158Leu)
c.6174T>A (p.Phe2058Leu)
c.3438T>A (p.Phe1146Leu)
c.2331T>A (p.Phe777Leu)
c.6357T>A (p.Phe2119Leu)
c.2109T>A (p.Phe703Leu)
c.5337T>A (p.Phe1779Leu)
8g.99717193T>CCA462440213VPS13Bc.6552T>C (p.Phe2184=)
n.6622T>C
c.*2234T>C (n.*2234T>C)
c.6477T>C (p.Phe2159=)
c.6549T>C (p.Phe2183=)
c.6474T>C (p.Phe2158=)
c.6174T>C (p.Phe2058=)
c.3438T>C (p.Phe1146=)
c.2331T>C (p.Phe777=)
c.6357T>C (p.Phe2119=)
c.2109T>C (p.Phe703=)
c.5337T>C (p.Phe1779=)
8g.99717193T>GCA371867121VPS13Bc.6552T>G (p.Phe2184Leu)
n.6622T>G
c.*2234T>G (n.*2234T>G)
c.6477T>G (p.Phe2159Leu)
c.6549T>G (p.Phe2183Leu)
c.6474T>G (p.Phe2158Leu)
c.6174T>G (p.Phe2058Leu)
c.3438T>G (p.Phe1146Leu)
c.2331T>G (p.Phe777Leu)
c.6357T>G (p.Phe2119Leu)
c.2109T>G (p.Phe703Leu)
c.5337T>G (p.Phe1779Leu)
8g.99717194C>ACA371867122VPS13Bc.6553C>A (p.Leu2185Ile)
n.6623C>A
c.*2235C>A (n.*2235C>A)
c.6478C>A (p.Leu2160Ile)
c.6550C>A (p.Leu2184Ile)
c.6475C>A (p.Leu2159Ile)
c.6175C>A (p.Leu2059Ile)
c.3439C>A (p.Leu1147Ile)
c.2332C>A (p.Leu778Ile)
c.6358C>A (p.Leu2120Ile)
c.2110C>A (p.Leu704Ile)
c.5338C>A (p.Leu1780Ile)
 gnomAD v4
8g.99717194C>GCA371867123VPS13Bc.6553C>G (p.Leu2185Val)
n.6623C>G
c.*2235C>G (n.*2235C>G)
c.6478C>G (p.Leu2160Val)
c.6550C>G (p.Leu2184Val)
c.6475C>G (p.Leu2159Val)
c.6175C>G (p.Leu2059Val)
c.3439C>G (p.Leu1147Val)
c.2332C>G (p.Leu778Val)
c.6358C>G (p.Leu2120Val)
c.2110C>G (p.Leu704Val)
c.5338C>G (p.Leu1780Val)
8g.99717194C>TCA462440214VPS13Bc.6553C>T (p.Leu2185=)
n.6623C>T
c.*2235C>T (n.*2235C>T)
c.6478C>T (p.Leu2160=)
c.6550C>T (p.Leu2184=)
c.6475C>T (p.Leu2159=)
c.6175C>T (p.Leu2059=)
c.3439C>T (p.Leu1147=)
c.2332C>T (p.Leu778=)
c.6358C>T (p.Leu2120=)
c.2110C>T (p.Leu704=)
c.5338C>T (p.Leu1780=)
8g.99717195T>ACA371867124VPS13Bc.6554T>A (p.Leu2185Gln)
n.6624T>A
c.*2236T>A (n.*2236T>A)
c.6479T>A (p.Leu2160Gln)
c.6551T>A (p.Leu2184Gln)
c.6476T>A (p.Leu2159Gln)
c.6176T>A (p.Leu2059Gln)
c.3440T>A (p.Leu1147Gln)
c.2333T>A (p.Leu778Gln)
c.6359T>A (p.Leu2120Gln)
c.2111T>A (p.Leu704Gln)
c.5339T>A (p.Leu1780Gln)
8g.99717195T>CCA371867125VPS13Bc.6554T>C (p.Leu2185Pro)
n.6624T>C
c.*2236T>C (n.*2236T>C)
c.6479T>C (p.Leu2160Pro)
c.6551T>C (p.Leu2184Pro)
c.6476T>C (p.Leu2159Pro)
c.6176T>C (p.Leu2059Pro)
c.3440T>C (p.Leu1147Pro)
c.2333T>C (p.Leu778Pro)
c.6359T>C (p.Leu2120Pro)
c.2111T>C (p.Leu704Pro)
c.5339T>C (p.Leu1780Pro)
8g.99717195T>GCA371867126VPS13Bc.6554T>G (p.Leu2185Arg)
n.6624T>G
c.*2236T>G (n.*2236T>G)
c.6479T>G (p.Leu2160Arg)
c.6551T>G (p.Leu2184Arg)
c.6476T>G (p.Leu2159Arg)
c.6176T>G (p.Leu2059Arg)
c.3440T>G (p.Leu1147Arg)
c.2333T>G (p.Leu778Arg)
c.6359T>G (p.Leu2120Arg)
c.2111T>G (p.Leu704Arg)
c.5339T>G (p.Leu1780Arg)
8g.99717196A>CCA462440215VPS13Bc.6555A>C (p.Leu2185=)
n.6625A>C
c.*2237A>C (n.*2237A>C)
c.6480A>C (p.Leu2160=)
c.6552A>C (p.Leu2184=)
c.6477A>C (p.Leu2159=)
c.6177A>C (p.Leu2059=)
c.3441A>C (p.Leu1147=)
c.2334A>C (p.Leu778=)
c.6360A>C (p.Leu2120=)
c.2112A>C (p.Leu704=)
c.5340A>C (p.Leu1780=)
 dbSNP
8g.99717196A>GCA462440217VPS13Bc.6555A>G (p.Leu2185=)
n.6625A>G
c.*2237A>G (n.*2237A>G)
c.6480A>G (p.Leu2160=)
c.6552A>G (p.Leu2184=)
c.6477A>G (p.Leu2159=)
c.6177A>G (p.Leu2059=)
c.3441A>G (p.Leu1147=)
c.2334A>G (p.Leu778=)
c.6360A>G (p.Leu2120=)
c.2112A>G (p.Leu704=)
c.5340A>G (p.Leu1780=)
8g.99717196A>TCA462440218VPS13Bc.6555A>T (p.Leu2185=)
n.6625A>T
c.*2237A>T (n.*2237A>T)
c.6480A>T (p.Leu2160=)
c.6552A>T (p.Leu2184=)
c.6477A>T (p.Leu2159=)
c.6177A>T (p.Leu2059=)
c.3441A>T (p.Leu1147=)
c.2334A>T (p.Leu778=)
c.6360A>T (p.Leu2120=)
c.2112A>T (p.Leu704=)
c.5340A>T (p.Leu1780=)
8g.99717197C>ACA371867129VPS13Bc.6556C>A (p.Leu2186Ile)
n.6626C>A
c.*2238C>A (n.*2238C>A)
c.6481C>A (p.Leu2161Ile)
c.6553C>A (p.Leu2185Ile)
c.6478C>A (p.Leu2160Ile)
c.6178C>A (p.Leu2060Ile)
c.3442C>A (p.Leu1148Ile)
c.2335C>A (p.Leu779Ile)
c.6361C>A (p.Leu2121Ile)
c.2113C>A (p.Leu705Ile)
c.5341C>A (p.Leu1781Ile)
8g.99717197C>GCA371867128VPS13Bc.6556C>G (p.Leu2186Val)
n.6626C>G
c.*2238C>G (n.*2238C>G)
c.6481C>G (p.Leu2161Val)
c.6553C>G (p.Leu2185Val)
c.6478C>G (p.Leu2160Val)
c.6178C>G (p.Leu2060Val)
c.3442C>G (p.Leu1148Val)
c.2335C>G (p.Leu779Val)
c.6361C>G (p.Leu2121Val)
c.2113C>G (p.Leu705Val)
c.5341C>G (p.Leu1781Val)
8g.99717197C>TCA371867127VPS13Bc.6556C>T (p.Leu2186Phe)
n.6626C>T
c.*2238C>T (n.*2238C>T)
c.6481C>T (p.Leu2161Phe)
c.6553C>T (p.Leu2185Phe)
c.6478C>T (p.Leu2160Phe)
c.6178C>T (p.Leu2060Phe)
c.3442C>T (p.Leu1148Phe)
c.2335C>T (p.Leu779Phe)
c.6361C>T (p.Leu2121Phe)
c.2113C>T (p.Leu705Phe)
c.5341C>T (p.Leu1781Phe)
 gnomAD v4
8g.99717198T>ACA371867130VPS13Bc.6557T>A (p.Leu2186His)
n.6627T>A
c.*2239T>A (n.*2239T>A)
c.6482T>A (p.Leu2161His)
c.6554T>A (p.Leu2185His)
c.6479T>A (p.Leu2160His)
c.6179T>A (p.Leu2060His)
c.3443T>A (p.Leu1148His)
c.2336T>A (p.Leu779His)
c.6362T>A (p.Leu2121His)
c.2114T>A (p.Leu705His)
c.5342T>A (p.Leu1781His)
8g.99717198T>CCA371867131VPS13Bc.6557T>C (p.Leu2186Pro)
n.6627T>C
c.*2239T>C (n.*2239T>C)
c.6482T>C (p.Leu2161Pro)
c.6554T>C (p.Leu2185Pro)
c.6479T>C (p.Leu2160Pro)
c.6179T>C (p.Leu2060Pro)
c.3443T>C (p.Leu1148Pro)
c.2336T>C (p.Leu779Pro)
c.6362T>C (p.Leu2121Pro)
c.2114T>C (p.Leu705Pro)
c.5342T>C (p.Leu1781Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717198T>GCA371867132VPS13Bc.6557T>G (p.Leu2186Arg)
n.6627T>G
c.*2239T>G (n.*2239T>G)
c.6482T>G (p.Leu2161Arg)
c.6554T>G (p.Leu2185Arg)
c.6479T>G (p.Leu2160Arg)
c.6179T>G (p.Leu2060Arg)
c.3443T>G (p.Leu1148Arg)
c.2336T>G (p.Leu779Arg)
c.6362T>G (p.Leu2121Arg)
c.2114T>G (p.Leu705Arg)
c.5342T>G (p.Leu1781Arg)
8g.99717199C>ACA462440219VPS13Bc.6558C>A (p.Leu2186=)
n.6628C>A
c.*2240C>A (n.*2240C>A)
c.6483C>A (p.Leu2161=)
c.6555C>A (p.Leu2185=)
c.6480C>A (p.Leu2160=)
c.6180C>A (p.Leu2060=)
c.3444C>A (p.Leu1148=)
c.2337C>A (p.Leu779=)
c.6363C>A (p.Leu2121=)
c.2115C>A (p.Leu705=)
c.5343C>A (p.Leu1781=)
 ClinVar dbSNP
8g.99717199C>GCA462440220VPS13Bc.6558C>G (p.Leu2186=)
n.6628C>G
c.*2240C>G (n.*2240C>G)
c.6483C>G (p.Leu2161=)
c.6555C>G (p.Leu2185=)
c.6480C>G (p.Leu2160=)
c.6180C>G (p.Leu2060=)
c.3444C>G (p.Leu1148=)
c.2337C>G (p.Leu779=)
c.6363C>G (p.Leu2121=)
c.2115C>G (p.Leu705=)
c.5343C>G (p.Leu1781=)
8g.99717199C>TCA462440221VPS13Bc.6558C>T (p.Leu2186=)
n.6628C>T
c.*2240C>T (n.*2240C>T)
c.6483C>T (p.Leu2161=)
c.6555C>T (p.Leu2185=)
c.6480C>T (p.Leu2160=)
c.6180C>T (p.Leu2060=)
c.3444C>T (p.Leu1148=)
c.2337C>T (p.Leu779=)
c.6363C>T (p.Leu2121=)
c.2115C>T (p.Leu705=)
c.5343C>T (p.Leu1781=)
 ClinVar
8g.99717200A>CCA371867133VPS13Bc.6559A>C (p.Ser2187Arg)
n.6629A>C
c.*2241A>C (n.*2241A>C)
c.6484A>C (p.Ser2162Arg)
c.6556A>C (p.Ser2186Arg)
c.6481A>C (p.Ser2161Arg)
c.6181A>C (p.Ser2061Arg)
c.3445A>C (p.Ser1149Arg)
c.2338A>C (p.Ser780Arg)
c.6364A>C (p.Ser2122Arg)
c.2116A>C (p.Ser706Arg)
c.5344A>C (p.Ser1782Arg)
8g.99717200A>GCA371867134VPS13Bc.6559A>G (p.Ser2187Gly)
n.6629A>G
c.*2241A>G (n.*2241A>G)
c.6484A>G (p.Ser2162Gly)
c.6556A>G (p.Ser2186Gly)
c.6481A>G (p.Ser2161Gly)
c.6181A>G (p.Ser2061Gly)
c.3445A>G (p.Ser1149Gly)
c.2338A>G (p.Ser780Gly)
c.6364A>G (p.Ser2122Gly)
c.2116A>G (p.Ser706Gly)
c.5344A>G (p.Ser1782Gly)
8g.99717200A>TCA371867135VPS13Bc.6559A>T (p.Ser2187Cys)
n.6629A>T
c.*2241A>T (n.*2241A>T)
c.6484A>T (p.Ser2162Cys)
c.6556A>T (p.Ser2186Cys)
c.6481A>T (p.Ser2161Cys)
c.6181A>T (p.Ser2061Cys)
c.3445A>T (p.Ser1149Cys)
c.2338A>T (p.Ser780Cys)
c.6364A>T (p.Ser2122Cys)
c.2116A>T (p.Ser706Cys)
c.5344A>T (p.Ser1782Cys)
8g.99717201G>ACA371867136VPS13Bc.6560G>A (p.Ser2187Asn)
n.6630G>A
c.*2242G>A (n.*2242G>A)
c.6485G>A (p.Ser2162Asn)
c.6557G>A (p.Ser2186Asn)
c.6482G>A (p.Ser2161Asn)
c.6182G>A (p.Ser2061Asn)
c.3446G>A (p.Ser1149Asn)
c.2339G>A (p.Ser780Asn)
c.6365G>A (p.Ser2122Asn)
c.2117G>A (p.Ser706Asn)
c.5345G>A (p.Ser1782Asn)
8g.99717201G>CCA371867137VPS13Bc.6560G>C (p.Ser2187Thr)
n.6630G>C
c.*2242G>C (n.*2242G>C)
c.6485G>C (p.Ser2162Thr)
c.6557G>C (p.Ser2186Thr)
c.6482G>C (p.Ser2161Thr)
c.6182G>C (p.Ser2061Thr)
c.3446G>C (p.Ser1149Thr)
c.2339G>C (p.Ser780Thr)
c.6365G>C (p.Ser2122Thr)
c.2117G>C (p.Ser706Thr)
c.5345G>C (p.Ser1782Thr)
8g.99717201G>TCA371867138VPS13Bc.6560G>T (p.Ser2187Ile)
n.6630G>T
c.*2242G>T (n.*2242G>T)
c.6485G>T (p.Ser2162Ile)
c.6557G>T (p.Ser2186Ile)
c.6482G>T (p.Ser2161Ile)
c.6182G>T (p.Ser2061Ile)
c.3446G>T (p.Ser1149Ile)
c.2339G>T (p.Ser780Ile)
c.6365G>T (p.Ser2122Ile)
c.2117G>T (p.Ser706Ile)
c.5345G>T (p.Ser1782Ile)
8g.99717202T>ACA371867139VPS13Bc.6561T>A (p.Ser2187Arg)
n.6631T>A
c.*2243T>A (n.*2243T>A)
c.6486T>A (p.Ser2162Arg)
c.6558T>A (p.Ser2186Arg)
c.6483T>A (p.Ser2161Arg)
c.6183T>A (p.Ser2061Arg)
c.3447T>A (p.Ser1149Arg)
c.2340T>A (p.Ser780Arg)
c.6366T>A (p.Ser2122Arg)
c.2118T>A (p.Ser706Arg)
c.5346T>A (p.Ser1782Arg)
8g.99717202T>CCA462440222VPS13Bc.6561T>C (p.Ser2187=)
n.6631T>C
c.*2243T>C (n.*2243T>C)
c.6486T>C (p.Ser2162=)
c.6558T>C (p.Ser2186=)
c.6483T>C (p.Ser2161=)
c.6183T>C (p.Ser2061=)
c.3447T>C (p.Ser1149=)
c.2340T>C (p.Ser780=)
c.6366T>C (p.Ser2122=)
c.2118T>C (p.Ser706=)
c.5346T>C (p.Ser1782=)
8g.99717202T>GCA371867140VPS13Bc.6561T>G (p.Ser2187Arg)
n.6631T>G
c.*2243T>G (n.*2243T>G)
c.6486T>G (p.Ser2162Arg)
c.6558T>G (p.Ser2186Arg)
c.6483T>G (p.Ser2161Arg)
c.6183T>G (p.Ser2061Arg)
c.3447T>G (p.Ser1149Arg)
c.2340T>G (p.Ser780Arg)
c.6366T>G (p.Ser2122Arg)
c.2118T>G (p.Ser706Arg)
c.5346T>G (p.Ser1782Arg)
8g.99717203A>CCA371867142VPS13Bc.6562A>C (p.Ile2188Leu)
n.6632A>C
c.*2244A>C (n.*2244A>C)
c.6487A>C (p.Ile2163Leu)
c.6559A>C (p.Ile2187Leu)
c.6484A>C (p.Ile2162Leu)
c.6184A>C (p.Ile2062Leu)
c.3448A>C (p.Ile1150Leu)
c.2341A>C (p.Ile781Leu)
c.6367A>C (p.Ile2123Leu)
c.2119A>C (p.Ile707Leu)
c.5347A>C (p.Ile1783Leu)
8g.99717203A>GCA244900VPS13Bc.6562A>G (p.Ile2188Val)
n.6632A>G
c.*2244A>G (n.*2244A>G)
c.6487A>G (p.Ile2163Val)
c.6559A>G (p.Ile2187Val)
c.6484A>G (p.Ile2162Val)
c.6184A>G (p.Ile2062Val)
c.3448A>G (p.Ile1150Val)
c.2341A>G (p.Ile781Val)
c.6367A>G (p.Ile2123Val)
c.2119A>G (p.Ile707Val)
c.5347A>G (p.Ile1783Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99717203A>TCA371867141VPS13Bc.6562A>T (p.Ile2188Leu)
n.6632A>T
c.*2244A>T (n.*2244A>T)
c.6487A>T (p.Ile2163Leu)
c.6559A>T (p.Ile2187Leu)
c.6484A>T (p.Ile2162Leu)
c.6184A>T (p.Ile2062Leu)
c.3448A>T (p.Ile1150Leu)
c.2341A>T (p.Ile781Leu)
c.6367A>T (p.Ile2123Leu)
c.2119A>T (p.Ile707Leu)
c.5347A>T (p.Ile1783Leu)
8g.99717204T>ACA371867143VPS13Bc.6563T>A (p.Ile2188Lys)
n.6633T>A
c.*2245T>A (n.*2245T>A)
c.6488T>A (p.Ile2163Lys)
c.6560T>A (p.Ile2187Lys)
c.6485T>A (p.Ile2162Lys)
c.6185T>A (p.Ile2062Lys)
c.3449T>A (p.Ile1150Lys)
c.2342T>A (p.Ile781Lys)
c.6368T>A (p.Ile2123Lys)
c.2120T>A (p.Ile707Lys)
c.5348T>A (p.Ile1783Lys)
8g.99717204T>CCA371867144VPS13Bc.6563T>C (p.Ile2188Thr)
n.6633T>C
c.*2245T>C (n.*2245T>C)
c.6488T>C (p.Ile2163Thr)
c.6560T>C (p.Ile2187Thr)
c.6485T>C (p.Ile2162Thr)
c.6185T>C (p.Ile2062Thr)
c.3449T>C (p.Ile1150Thr)
c.2342T>C (p.Ile781Thr)
c.6368T>C (p.Ile2123Thr)
c.2120T>C (p.Ile707Thr)
c.5348T>C (p.Ile1783Thr)
8g.99717204T>GCA371867145VPS13Bc.6563T>G (p.Ile2188Arg)
n.6633T>G
c.*2245T>G (n.*2245T>G)
c.6488T>G (p.Ile2163Arg)
c.6560T>G (p.Ile2187Arg)
c.6485T>G (p.Ile2162Arg)
c.6185T>G (p.Ile2062Arg)
c.3449T>G (p.Ile1150Arg)
c.2342T>G (p.Ile781Arg)
c.6368T>G (p.Ile2123Arg)
c.2120T>G (p.Ile707Arg)
c.5348T>G (p.Ile1783Arg)
8g.99717205A>CCA462440223VPS13Bc.6564A>C (p.Ile2188=)
n.6634A>C
c.*2246A>C (n.*2246A>C)
c.6489A>C (p.Ile2163=)
c.6561A>C (p.Ile2187=)
c.6486A>C (p.Ile2162=)
c.6186A>C (p.Ile2062=)
c.3450A>C (p.Ile1150=)
c.2343A>C (p.Ile781=)
c.6369A>C (p.Ile2123=)
c.2121A>C (p.Ile707=)
c.5349A>C (p.Ile1783=)
8g.99717205A>GCA371867146VPS13Bc.6564A>G (p.Ile2188Met)
n.6634A>G
c.*2246A>G (n.*2246A>G)
c.6489A>G (p.Ile2163Met)
c.6561A>G (p.Ile2187Met)
c.6486A>G (p.Ile2162Met)
c.6186A>G (p.Ile2062Met)
c.3450A>G (p.Ile1150Met)
c.2343A>G (p.Ile781Met)
c.6369A>G (p.Ile2123Met)
c.2121A>G (p.Ile707Met)
c.5349A>G (p.Ile1783Met)
8g.99717205A>TCA462440224VPS13Bc.6564A>T (p.Ile2188=)
n.6634A>T
c.*2246A>T (n.*2246A>T)
c.6489A>T (p.Ile2163=)
c.6561A>T (p.Ile2187=)
c.6486A>T (p.Ile2162=)
c.6186A>T (p.Ile2062=)
c.3450A>T (p.Ile1150=)
c.2343A>T (p.Ile781=)
c.6369A>T (p.Ile2123=)
c.2121A>T (p.Ile707=)
c.5349A>T (p.Ile1783=)
8g.99717207delCA4824012VPS13Bc.6566del (p.Asn2189ThrfsTer16)
n.6636del
c.*2248del (n.*2248del)
c.6491del (p.Asn2164ThrfsTer16)
c.6563del (p.Asn2188ThrfsTer16)
c.6488del (p.Asn2163ThrfsTer16)
c.6188del (p.Asn2063ThrfsTer16)
c.3452del (p.Asn1151ThrfsTer16)
c.2345del (p.Asn782ThrfsTer16)
c.6371del (p.Asn2124ThrfsTer16)
c.2123del (p.Asn708ThrfsTer16)
c.5351del (p.Asn1784ThrfsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717206A>CCA371867147VPS13Bc.6565A>C (p.Asn2189His)
n.6635A>C
c.*2247A>C (n.*2247A>C)
c.6490A>C (p.Asn2164His)
c.6562A>C (p.Asn2188His)
c.6487A>C (p.Asn2163His)
c.6187A>C (p.Asn2063His)
c.3451A>C (p.Asn1151His)
c.2344A>C (p.Asn782His)
c.6370A>C (p.Asn2124His)
c.2122A>C (p.Asn708His)
c.5350A>C (p.Asn1784His)
8g.99717206A>GCA4824013VPS13Bc.6565A>G (p.Asn2189Asp)
n.6635A>G
c.*2247A>G (n.*2247A>G)
c.6490A>G (p.Asn2164Asp)
c.6562A>G (p.Asn2188Asp)
c.6487A>G (p.Asn2163Asp)
c.6187A>G (p.Asn2063Asp)
c.3451A>G (p.Asn1151Asp)
c.2344A>G (p.Asn782Asp)
c.6370A>G (p.Asn2124Asp)
c.2122A>G (p.Asn708Asp)
c.5350A>G (p.Asn1784Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717206A>TCA371867148VPS13Bc.6565A>T (p.Asn2189Tyr)
n.6635A>T
c.*2247A>T (n.*2247A>T)
c.6490A>T (p.Asn2164Tyr)
c.6562A>T (p.Asn2188Tyr)
c.6487A>T (p.Asn2163Tyr)
c.6187A>T (p.Asn2063Tyr)
c.3451A>T (p.Asn1151Tyr)
c.2344A>T (p.Asn782Tyr)
c.6370A>T (p.Asn2124Tyr)
c.2122A>T (p.Asn708Tyr)
c.5350A>T (p.Asn1784Tyr)
8g.99717207A>CCA371867149VPS13Bc.6566A>C (p.Asn2189Thr)
n.6636A>C
c.*2248A>C (n.*2248A>C)
c.6491A>C (p.Asn2164Thr)
c.6563A>C (p.Asn2188Thr)
c.6488A>C (p.Asn2163Thr)
c.6188A>C (p.Asn2063Thr)
c.3452A>C (p.Asn1151Thr)
c.2345A>C (p.Asn782Thr)
c.6371A>C (p.Asn2124Thr)
c.2123A>C (p.Asn708Thr)
c.5351A>C (p.Asn1784Thr)
8g.99717207A>GCA371867150VPS13Bc.6566A>G (p.Asn2189Ser)
n.6636A>G
c.*2248A>G (n.*2248A>G)
c.6491A>G (p.Asn2164Ser)
c.6563A>G (p.Asn2188Ser)
c.6488A>G (p.Asn2163Ser)
c.6188A>G (p.Asn2063Ser)
c.3452A>G (p.Asn1151Ser)
c.2345A>G (p.Asn782Ser)
c.6371A>G (p.Asn2124Ser)
c.2123A>G (p.Asn708Ser)
c.5351A>G (p.Asn1784Ser)
8g.99717207A>TCA371867151VPS13Bc.6566A>T (p.Asn2189Ile)
n.6636A>T
c.*2248A>T (n.*2248A>T)
c.6491A>T (p.Asn2164Ile)
c.6563A>T (p.Asn2188Ile)
c.6488A>T (p.Asn2163Ile)
c.6188A>T (p.Asn2063Ile)
c.3452A>T (p.Asn1151Ile)
c.2345A>T (p.Asn782Ile)
c.6371A>T (p.Asn2124Ile)
c.2123A>T (p.Asn708Ile)
c.5351A>T (p.Asn1784Ile)
8g.99717208C>ACA371867152VPS13Bc.6567C>A (p.Asn2189Lys)
n.6637C>A
c.*2249C>A (n.*2249C>A)
c.6492C>A (p.Asn2164Lys)
c.6564C>A (p.Asn2188Lys)
c.6489C>A (p.Asn2163Lys)
c.6189C>A (p.Asn2063Lys)
c.3453C>A (p.Asn1151Lys)
c.2346C>A (p.Asn782Lys)
c.6372C>A (p.Asn2124Lys)
c.2124C>A (p.Asn708Lys)
c.5352C>A (p.Asn1784Lys)
8g.99717208C>GCA371867153VPS13Bc.6567C>G (p.Asn2189Lys)
n.6637C>G
c.*2249C>G (n.*2249C>G)
c.6492C>G (p.Asn2164Lys)
c.6564C>G (p.Asn2188Lys)
c.6489C>G (p.Asn2163Lys)
c.6189C>G (p.Asn2063Lys)
c.3453C>G (p.Asn1151Lys)
c.2346C>G (p.Asn782Lys)
c.6372C>G (p.Asn2124Lys)
c.2124C>G (p.Asn708Lys)
c.5352C>G (p.Asn1784Lys)
 gnomAD v4
8g.99717208C>TCA4824014VPS13Bc.6567C>T (p.Asn2189=)
n.6637C>T
c.*2249C>T (n.*2249C>T)
c.6492C>T (p.Asn2164=)
c.6564C>T (p.Asn2188=)
c.6489C>T (p.Asn2163=)
c.6189C>T (p.Asn2063=)
c.3453C>T (p.Asn1151=)
c.2346C>T (p.Asn782=)
c.6372C>T (p.Asn2124=)
c.2124C>T (p.Asn708=)
c.5352C>T (p.Asn1784=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717209G>ACA4824015VPS13Bc.6568G>A (p.Asp2190Asn)
n.6638G>A
c.*2250G>A (n.*2250G>A)
c.6493G>A (p.Asp2165Asn)
c.6565G>A (p.Asp2189Asn)
c.6490G>A (p.Asp2164Asn)
c.6190G>A (p.Asp2064Asn)
c.3454G>A (p.Asp1152Asn)
c.2347G>A (p.Asp783Asn)
c.6373G>A (p.Asp2125Asn)
c.2125G>A (p.Asp709Asn)
c.5353G>A (p.Asp1785Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717209G>CCA371867154VPS13Bc.6568G>C (p.Asp2190His)
n.6638G>C
c.*2250G>C (n.*2250G>C)
c.6493G>C (p.Asp2165His)
c.6565G>C (p.Asp2189His)
c.6490G>C (p.Asp2164His)
c.6190G>C (p.Asp2064His)
c.3454G>C (p.Asp1152His)
c.2347G>C (p.Asp783His)
c.6373G>C (p.Asp2125His)
c.2125G>C (p.Asp709His)
c.5353G>C (p.Asp1785His)
 gnomAD v4
8g.99717209G>TCA371867155VPS13Bc.6568G>T (p.Asp2190Tyr)
n.6638G>T
c.*2250G>T (n.*2250G>T)
c.6493G>T (p.Asp2165Tyr)
c.6565G>T (p.Asp2189Tyr)
c.6490G>T (p.Asp2164Tyr)
c.6190G>T (p.Asp2064Tyr)
c.3454G>T (p.Asp1152Tyr)
c.2347G>T (p.Asp783Tyr)
c.6373G>T (p.Asp2125Tyr)
c.2125G>T (p.Asp709Tyr)
c.5353G>T (p.Asp1785Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.99717210A>CCA371867156VPS13Bc.6569A>C (p.Asp2190Ala)
n.6639A>C
c.*2251A>C (n.*2251A>C)
c.6494A>C (p.Asp2165Ala)
c.6566A>C (p.Asp2189Ala)
c.6491A>C (p.Asp2164Ala)
c.6191A>C (p.Asp2064Ala)
c.3455A>C (p.Asp1152Ala)
c.2348A>C (p.Asp783Ala)
c.6374A>C (p.Asp2125Ala)
c.2126A>C (p.Asp709Ala)
c.5354A>C (p.Asp1785Ala)
8g.99717210A>GCA371867157VPS13Bc.6569A>G (p.Asp2190Gly)
n.6639A>G
c.*2251A>G (n.*2251A>G)
c.6494A>G (p.Asp2165Gly)
c.6566A>G (p.Asp2189Gly)
c.6491A>G (p.Asp2164Gly)
c.6191A>G (p.Asp2064Gly)
c.3455A>G (p.Asp1152Gly)
c.2348A>G (p.Asp783Gly)
c.6374A>G (p.Asp2125Gly)
c.2126A>G (p.Asp709Gly)
c.5354A>G (p.Asp1785Gly)
 gnomAD v4
8g.99717210A>TCA4824016VPS13Bc.6569A>T (p.Asp2190Val)
n.6639A>T
c.*2251A>T (n.*2251A>T)
c.6494A>T (p.Asp2165Val)
c.6566A>T (p.Asp2189Val)
c.6491A>T (p.Asp2164Val)
c.6191A>T (p.Asp2064Val)
c.3455A>T (p.Asp1152Val)
c.2348A>T (p.Asp783Val)
c.6374A>T (p.Asp2125Val)
c.2126A>T (p.Asp709Val)
c.5354A>T (p.Asp1785Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717211T>ACA371867158VPS13Bc.6570T>A (p.Asp2190Glu)
n.6640T>A
c.*2252T>A (n.*2252T>A)
c.6495T>A (p.Asp2165Glu)
c.6567T>A (p.Asp2189Glu)
c.6492T>A (p.Asp2164Glu)
c.6192T>A (p.Asp2064Glu)
c.3456T>A (p.Asp1152Glu)
c.2349T>A (p.Asp783Glu)
c.6375T>A (p.Asp2125Glu)
c.2127T>A (p.Asp709Glu)
c.5355T>A (p.Asp1785Glu)
8g.99717211T>CCA462440225VPS13Bc.6570T>C (p.Asp2190=)
n.6640T>C
c.*2252T>C (n.*2252T>C)
c.6495T>C (p.Asp2165=)
c.6567T>C (p.Asp2189=)
c.6492T>C (p.Asp2164=)
c.6192T>C (p.Asp2064=)
c.3456T>C (p.Asp1152=)
c.2349T>C (p.Asp783=)
c.6375T>C (p.Asp2125=)
c.2127T>C (p.Asp709=)
c.5355T>C (p.Asp1785=)
8g.99717211T>GCA371867159VPS13Bc.6570T>G (p.Asp2190Glu)
n.6640T>G
c.*2252T>G (n.*2252T>G)
c.6495T>G (p.Asp2165Glu)
c.6567T>G (p.Asp2189Glu)
c.6492T>G (p.Asp2164Glu)
c.6192T>G (p.Asp2064Glu)
c.3456T>G (p.Asp1152Glu)
c.2349T>G (p.Asp783Glu)
c.6375T>G (p.Asp2125Glu)
c.2127T>G (p.Asp709Glu)
c.5355T>G (p.Asp1785Glu)
8g.99717212T>ACA371867160VPS13Bc.6571T>A (p.Phe2191Ile)
n.6641T>A
c.*2253T>A (n.*2253T>A)
c.6496T>A (p.Phe2166Ile)
c.6568T>A (p.Phe2190Ile)
c.6493T>A (p.Phe2165Ile)
c.6193T>A (p.Phe2065Ile)
c.3457T>A (p.Phe1153Ile)
c.2350T>A (p.Phe784Ile)
c.6376T>A (p.Phe2126Ile)
c.2128T>A (p.Phe710Ile)
c.5356T>A (p.Phe1786Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.99717212T>CCA371867161VPS13Bc.6571T>C (p.Phe2191Leu)
n.6641T>C
c.*2253T>C (n.*2253T>C)
c.6496T>C (p.Phe2166Leu)
c.6568T>C (p.Phe2190Leu)
c.6493T>C (p.Phe2165Leu)
c.6193T>C (p.Phe2065Leu)
c.3457T>C (p.Phe1153Leu)
c.2350T>C (p.Phe784Leu)
c.6376T>C (p.Phe2126Leu)
c.2128T>C (p.Phe710Leu)
c.5356T>C (p.Phe1786Leu)
8g.99717212T>GCA371867162VPS13Bc.6571T>G (p.Phe2191Val)
n.6641T>G
c.*2253T>G (n.*2253T>G)
c.6496T>G (p.Phe2166Val)
c.6568T>G (p.Phe2190Val)
c.6493T>G (p.Phe2165Val)
c.6193T>G (p.Phe2065Val)
c.3457T>G (p.Phe1153Val)
c.2350T>G (p.Phe784Val)
c.6376T>G (p.Phe2126Val)
c.2128T>G (p.Phe710Val)
c.5356T>G (p.Phe1786Val)
 dbSNP
8g.99717213T>ACA371867163VPS13Bc.6572T>A (p.Phe2191Tyr)
n.6642T>A
c.*2254T>A (n.*2254T>A)
c.6497T>A (p.Phe2166Tyr)
c.6569T>A (p.Phe2190Tyr)
c.6494T>A (p.Phe2165Tyr)
c.6194T>A (p.Phe2065Tyr)
c.3458T>A (p.Phe1153Tyr)
c.2351T>A (p.Phe784Tyr)
c.6377T>A (p.Phe2126Tyr)
c.2129T>A (p.Phe710Tyr)
c.5357T>A (p.Phe1786Tyr)
8g.99717213T>CCA371867164VPS13Bc.6572T>C (p.Phe2191Ser)
n.6642T>C
c.*2254T>C (n.*2254T>C)
c.6497T>C (p.Phe2166Ser)
c.6569T>C (p.Phe2190Ser)
c.6494T>C (p.Phe2165Ser)
c.6194T>C (p.Phe2065Ser)
c.3458T>C (p.Phe1153Ser)
c.2351T>C (p.Phe784Ser)
c.6377T>C (p.Phe2126Ser)
c.2129T>C (p.Phe710Ser)
c.5357T>C (p.Phe1786Ser)
8g.99717213T>GCA371867165VPS13Bc.6572T>G (p.Phe2191Cys)
n.6642T>G
c.*2254T>G (n.*2254T>G)
c.6497T>G (p.Phe2166Cys)
c.6569T>G (p.Phe2190Cys)
c.6494T>G (p.Phe2165Cys)
c.6194T>G (p.Phe2065Cys)
c.3458T>G (p.Phe1153Cys)
c.2351T>G (p.Phe784Cys)
c.6377T>G (p.Phe2126Cys)
c.2129T>G (p.Phe710Cys)
c.5357T>G (p.Phe1786Cys)
8g.99717214T>ACA371867167VPS13Bc.6573T>A (p.Phe2191Leu)
n.6643T>A
c.*2255T>A (n.*2255T>A)
c.6498T>A (p.Phe2166Leu)
c.6570T>A (p.Phe2190Leu)
c.6495T>A (p.Phe2165Leu)
c.6195T>A (p.Phe2065Leu)
c.3459T>A (p.Phe1153Leu)
c.2352T>A (p.Phe784Leu)
c.6378T>A (p.Phe2126Leu)
c.2130T>A (p.Phe710Leu)
c.5358T>A (p.Phe1786Leu)
8g.99717214T>CCA462440226VPS13Bc.6573T>C (p.Phe2191=)
n.6643T>C
c.*2255T>C (n.*2255T>C)
c.6498T>C (p.Phe2166=)
c.6570T>C (p.Phe2190=)
c.6495T>C (p.Phe2165=)
c.6195T>C (p.Phe2065=)
c.3459T>C (p.Phe1153=)
c.2352T>C (p.Phe784=)
c.6378T>C (p.Phe2126=)
c.2130T>C (p.Phe710=)
c.5358T>C (p.Phe1786=)
8g.99717214T>GCA371867166VPS13Bc.6573T>G (p.Phe2191Leu)
n.6643T>G
c.*2255T>G (n.*2255T>G)
c.6498T>G (p.Phe2166Leu)
c.6570T>G (p.Phe2190Leu)
c.6495T>G (p.Phe2165Leu)
c.6195T>G (p.Phe2065Leu)
c.3459T>G (p.Phe1153Leu)
c.2352T>G (p.Phe784Leu)
c.6378T>G (p.Phe2126Leu)
c.2130T>G (p.Phe710Leu)
c.5358T>G (p.Phe1786Leu)
8g.99717215C>ACA371867168VPS13Bc.6574C>A (p.Leu2192Ile)
n.6644C>A
c.*2256C>A (n.*2256C>A)
c.6499C>A (p.Leu2167Ile)
c.6571C>A (p.Leu2191Ile)
c.6496C>A (p.Leu2166Ile)
c.6196C>A (p.Leu2066Ile)
c.3460C>A (p.Leu1154Ile)
c.2353C>A (p.Leu785Ile)
c.6379C>A (p.Leu2127Ile)
c.2131C>A (p.Leu711Ile)
c.5359C>A (p.Leu1787Ile)
8g.99717215C>GCA371867170VPS13Bc.6574C>G (p.Leu2192Val)
n.6644C>G
c.*2256C>G (n.*2256C>G)
c.6499C>G (p.Leu2167Val)
c.6571C>G (p.Leu2191Val)
c.6496C>G (p.Leu2166Val)
c.6196C>G (p.Leu2066Val)
c.3460C>G (p.Leu1154Val)
c.2353C>G (p.Leu785Val)
c.6379C>G (p.Leu2127Val)
c.2131C>G (p.Leu711Val)
c.5359C>G (p.Leu1787Val)
8g.99717215C>TCA371867169VPS13Bc.6574C>T (p.Leu2192Phe)
n.6644C>T
c.*2256C>T (n.*2256C>T)
c.6499C>T (p.Leu2167Phe)
c.6571C>T (p.Leu2191Phe)
c.6496C>T (p.Leu2166Phe)
c.6196C>T (p.Leu2066Phe)
c.3460C>T (p.Leu1154Phe)
c.2353C>T (p.Leu785Phe)
c.6379C>T (p.Leu2127Phe)
c.2131C>T (p.Leu711Phe)
c.5359C>T (p.Leu1787Phe)
 dbSNP
8g.99717216T>ACA371867171VPS13Bc.6575T>A (p.Leu2192His)
n.6645T>A
c.*2257T>A (n.*2257T>A)
c.6500T>A (p.Leu2167His)
c.6572T>A (p.Leu2191His)
c.6497T>A (p.Leu2166His)
c.6197T>A (p.Leu2066His)
c.3461T>A (p.Leu1154His)
c.2354T>A (p.Leu785His)
c.6380T>A (p.Leu2127His)
c.2132T>A (p.Leu711His)
c.5360T>A (p.Leu1787His)
8g.99717216T>CCA371867173VPS13Bc.6575T>C (p.Leu2192Pro)
n.6645T>C
c.*2257T>C (n.*2257T>C)
c.6500T>C (p.Leu2167Pro)
c.6572T>C (p.Leu2191Pro)
c.6497T>C (p.Leu2166Pro)
c.6197T>C (p.Leu2066Pro)
c.3461T>C (p.Leu1154Pro)
c.2354T>C (p.Leu785Pro)
c.6380T>C (p.Leu2127Pro)
c.2132T>C (p.Leu711Pro)
c.5360T>C (p.Leu1787Pro)
8g.99717216T>GCA371867172VPS13Bc.6575T>G (p.Leu2192Arg)
n.6645T>G
c.*2257T>G (n.*2257T>G)
c.6500T>G (p.Leu2167Arg)
c.6572T>G (p.Leu2191Arg)
c.6497T>G (p.Leu2166Arg)
c.6197T>G (p.Leu2066Arg)
c.3461T>G (p.Leu1154Arg)
c.2354T>G (p.Leu785Arg)
c.6380T>G (p.Leu2127Arg)
c.2132T>G (p.Leu711Arg)
c.5360T>G (p.Leu1787Arg)
8g.99717217C>ACA462440227VPS13Bc.6576C>A (p.Leu2192=)
n.6646C>A
c.*2258C>A (n.*2258C>A)
c.6501C>A (p.Leu2167=)
c.6573C>A (p.Leu2191=)
c.6498C>A (p.Leu2166=)
c.6198C>A (p.Leu2066=)
c.3462C>A (p.Leu1154=)
c.2355C>A (p.Leu785=)
c.6381C>A (p.Leu2127=)
c.2133C>A (p.Leu711=)
c.5361C>A (p.Leu1787=)
8g.99717217C>GCA462440228VPS13Bc.6576C>G (p.Leu2192=)
n.6646C>G
c.*2258C>G (n.*2258C>G)
c.6501C>G (p.Leu2167=)
c.6573C>G (p.Leu2191=)
c.6498C>G (p.Leu2166=)
c.6198C>G (p.Leu2066=)
c.3462C>G (p.Leu1154=)
c.2355C>G (p.Leu785=)
c.6381C>G (p.Leu2127=)
c.2133C>G (p.Leu711=)
c.5361C>G (p.Leu1787=)
8g.99717217C>TCA462440229VPS13Bc.6576C>T (p.Leu2192=)
n.6646C>T
c.*2258C>T (n.*2258C>T)
c.6501C>T (p.Leu2167=)
c.6573C>T (p.Leu2191=)
c.6498C>T (p.Leu2166=)
c.6198C>T (p.Leu2066=)
c.3462C>T (p.Leu1154=)
c.2355C>T (p.Leu785=)
c.6381C>T (p.Leu2127=)
c.2133C>T (p.Leu711=)
c.5361C>T (p.Leu1787=)
 dbSNP
8g.99717218C>ACA371867174VPS13Bc.6577C>A (p.Leu2193Ile)
n.6647C>A
c.*2259C>A (n.*2259C>A)
c.6502C>A (p.Leu2168Ile)
c.6574C>A (p.Leu2192Ile)
c.6499C>A (p.Leu2167Ile)
c.6199C>A (p.Leu2067Ile)
c.3463C>A (p.Leu1155Ile)
c.2356C>A (p.Leu786Ile)
c.6382C>A (p.Leu2128Ile)
c.2134C>A (p.Leu712Ile)
c.5362C>A (p.Leu1788Ile)
 dbSNP
8g.99717218C>GCA371867175VPS13Bc.6577C>G (p.Leu2193Val)
n.6647C>G
c.*2259C>G (n.*2259C>G)
c.6502C>G (p.Leu2168Val)
c.6574C>G (p.Leu2192Val)
c.6499C>G (p.Leu2167Val)
c.6199C>G (p.Leu2067Val)
c.3463C>G (p.Leu1155Val)
c.2356C>G (p.Leu786Val)
c.6382C>G (p.Leu2128Val)
c.2134C>G (p.Leu712Val)
c.5362C>G (p.Leu1788Val)
8g.99717218C>TCA371867176VPS13Bc.6577C>T (p.Leu2193Phe)
n.6647C>T
c.*2259C>T (n.*2259C>T)
c.6502C>T (p.Leu2168Phe)
c.6574C>T (p.Leu2192Phe)
c.6499C>T (p.Leu2167Phe)
c.6199C>T (p.Leu2067Phe)
c.3463C>T (p.Leu1155Phe)
c.2356C>T (p.Leu786Phe)
c.6382C>T (p.Leu2128Phe)
c.2134C>T (p.Leu712Phe)
c.5362C>T (p.Leu1788Phe)
8g.99717219T>ACA371867177VPS13Bc.6578T>A (p.Leu2193His)
n.6648T>A
c.*2260T>A (n.*2260T>A)
c.6503T>A (p.Leu2168His)
c.6575T>A (p.Leu2192His)
c.6500T>A (p.Leu2167His)
c.6200T>A (p.Leu2067His)
c.3464T>A (p.Leu1155His)
c.2357T>A (p.Leu786His)
c.6383T>A (p.Leu2128His)
c.2135T>A (p.Leu712His)
c.5363T>A (p.Leu1788His)
8g.99717219T>CCA371867178VPS13Bc.6578T>C (p.Leu2193Pro)
n.6648T>C
c.*2260T>C (n.*2260T>C)
c.6503T>C (p.Leu2168Pro)
c.6575T>C (p.Leu2192Pro)
c.6500T>C (p.Leu2167Pro)
c.6200T>C (p.Leu2067Pro)
c.3464T>C (p.Leu1155Pro)
c.2357T>C (p.Leu786Pro)
c.6383T>C (p.Leu2128Pro)
c.2135T>C (p.Leu712Pro)
c.5363T>C (p.Leu1788Pro)
8g.99717219T>GCA252423VPS13Bc.6578T>G (p.Leu2193Arg)
n.6648T>G
c.*2260T>G (n.*2260T>G)
c.6503T>G (p.Leu2168Arg)
c.6575T>G (p.Leu2192Arg)
c.6500T>G (p.Leu2167Arg)
c.6200T>G (p.Leu2067Arg)
c.3464T>G (p.Leu1155Arg)
c.2357T>G (p.Leu786Arg)
c.6383T>G (p.Leu2128Arg)
c.2135T>G (p.Leu712Arg)
c.5363T>G (p.Leu1788Arg)
 ClinVar dbSNP
8g.99717220T>ACA462440230VPS13Bc.6579T>A (p.Leu2193=)
n.6649T>A
c.*2261T>A (n.*2261T>A)
c.6504T>A (p.Leu2168=)
c.6576T>A (p.Leu2192=)
c.6501T>A (p.Leu2167=)
c.6201T>A (p.Leu2067=)
c.3465T>A (p.Leu1155=)
c.2358T>A (p.Leu786=)
c.6384T>A (p.Leu2128=)
c.2136T>A (p.Leu712=)
c.5364T>A (p.Leu1788=)
8g.99717220T>CCA462440231VPS13Bc.6579T>C (p.Leu2193=)
n.6649T>C
c.*2261T>C (n.*2261T>C)
c.6504T>C (p.Leu2168=)
c.6576T>C (p.Leu2192=)
c.6501T>C (p.Leu2167=)
c.6201T>C (p.Leu2067=)
c.3465T>C (p.Leu1155=)
c.2358T>C (p.Leu786=)
c.6384T>C (p.Leu2128=)
c.2136T>C (p.Leu712=)
c.5364T>C (p.Leu1788=)
8g.99717220T>GCA462440232VPS13Bc.6579T>G (p.Leu2193=)
n.6649T>G
c.*2261T>G (n.*2261T>G)
c.6504T>G (p.Leu2168=)
c.6576T>G (p.Leu2192=)
c.6501T>G (p.Leu2167=)
c.6201T>G (p.Leu2067=)
c.3465T>G (p.Leu1155=)
c.2358T>G (p.Leu786=)
c.6384T>G (p.Leu2128=)
c.2136T>G (p.Leu712=)
c.5364T>G (p.Leu1788=)
 dbSNP
8g.99717221A>CCA371867179VPS13Bc.6580A>C (p.Lys2194Gln)
n.6650A>C
c.*2262A>C (n.*2262A>C)
c.6505A>C (p.Lys2169Gln)
c.6577A>C (p.Lys2193Gln)
c.6502A>C (p.Lys2168Gln)
c.6202A>C (p.Lys2068Gln)
c.3466A>C (p.Lys1156Gln)
c.2359A>C (p.Lys787Gln)
c.6385A>C (p.Lys2129Gln)
c.2137A>C (p.Lys713Gln)
c.5365A>C (p.Lys1789Gln)
8g.99717221A>GCA371867180VPS13Bc.6580A>G (p.Lys2194Glu)
n.6650A>G
c.*2262A>G (n.*2262A>G)
c.6505A>G (p.Lys2169Glu)
c.6577A>G (p.Lys2193Glu)
c.6502A>G (p.Lys2168Glu)
c.6202A>G (p.Lys2068Glu)
c.3466A>G (p.Lys1156Glu)
c.2359A>G (p.Lys787Glu)
c.6385A>G (p.Lys2129Glu)
c.2137A>G (p.Lys713Glu)
c.5365A>G (p.Lys1789Glu)
8g.99717221A>TCA371867181VPS13Bc.6580A>T (p.Lys2194Ter)
n.6650A>T
c.*2262A>T (n.*2262A>T)
c.6505A>T (p.Lys2169Ter)
c.6577A>T (p.Lys2193Ter)
c.6502A>T (p.Lys2168Ter)
c.6202A>T (p.Lys2068Ter)
c.3466A>T (p.Lys1156Ter)
c.2359A>T (p.Lys787Ter)
c.6385A>T (p.Lys2129Ter)
c.2137A>T (p.Lys713Ter)
c.5365A>T (p.Lys1789Ter)
 ClinVar gnomAD v4
8g.99717224delCA16041245VPS13Bc.6583del (p.Thr2195GlnfsTer10)
n.6653del
c.*2265del (n.*2265del)
c.6508del (p.Thr2170GlnfsTer10)
c.6580del (p.Thr2194GlnfsTer10)
c.6505del (p.Thr2169GlnfsTer10)
c.6205del (p.Thr2069GlnfsTer10)
c.3469del (p.Thr1157GlnfsTer10)
c.2362del (p.Thr788GlnfsTer10)
c.6388del (p.Thr2130GlnfsTer10)
c.2140del (p.Thr714GlnfsTer10)
c.5368del (p.Thr1790GlnfsTer10)
 ClinVar dbSNP
8g.99717222A>CCA371867182VPS13Bc.6581A>C (p.Lys2194Thr)
n.6651A>C
c.*2263A>C (n.*2263A>C)
c.6506A>C (p.Lys2169Thr)
c.6578A>C (p.Lys2193Thr)
c.6503A>C (p.Lys2168Thr)
c.6203A>C (p.Lys2068Thr)
c.3467A>C (p.Lys1156Thr)
c.2360A>C (p.Lys787Thr)
c.6386A>C (p.Lys2129Thr)
c.2138A>C (p.Lys713Thr)
c.5366A>C (p.Lys1789Thr)
8g.99717222A>GCA371867183VPS13Bc.6581A>G (p.Lys2194Arg)
n.6651A>G
c.*2263A>G (n.*2263A>G)
c.6506A>G (p.Lys2169Arg)
c.6578A>G (p.Lys2193Arg)
c.6503A>G (p.Lys2168Arg)
c.6203A>G (p.Lys2068Arg)
c.3467A>G (p.Lys1156Arg)
c.2360A>G (p.Lys787Arg)
c.6386A>G (p.Lys2129Arg)
c.2138A>G (p.Lys713Arg)
c.5366A>G (p.Lys1789Arg)
8g.99717222A>TCA371867184VPS13Bc.6581A>T (p.Lys2194Ile)
n.6651A>T
c.*2263A>T (n.*2263A>T)
c.6506A>T (p.Lys2169Ile)
c.6578A>T (p.Lys2193Ile)
c.6503A>T (p.Lys2168Ile)
c.6203A>T (p.Lys2068Ile)
c.3467A>T (p.Lys1156Ile)
c.2360A>T (p.Lys787Ile)
c.6386A>T (p.Lys2129Ile)
c.2138A>T (p.Lys713Ile)
c.5366A>T (p.Lys1789Ile)
8g.99717223A>CCA371867185VPS13Bc.6582A>C (p.Lys2194Asn)
n.6652A>C
c.*2264A>C (n.*2264A>C)
c.6507A>C (p.Lys2169Asn)
c.6579A>C (p.Lys2193Asn)
c.6504A>C (p.Lys2168Asn)
c.6204A>C (p.Lys2068Asn)
c.3468A>C (p.Lys1156Asn)
c.2361A>C (p.Lys787Asn)
c.6387A>C (p.Lys2129Asn)
c.2139A>C (p.Lys713Asn)
c.5367A>C (p.Lys1789Asn)
 ClinVar dbSNP gnomAD v4
8g.99717223A>GCA462440233VPS13Bc.6582A>G (p.Lys2194=)
n.6652A>G
c.*2264A>G (n.*2264A>G)
c.6507A>G (p.Lys2169=)
c.6579A>G (p.Lys2193=)
c.6504A>G (p.Lys2168=)
c.6204A>G (p.Lys2068=)
c.3468A>G (p.Lys1156=)
c.2361A>G (p.Lys787=)
c.6387A>G (p.Lys2129=)
c.2139A>G (p.Lys713=)
c.5367A>G (p.Lys1789=)
8g.99717223A>TCA371867186VPS13Bc.6582A>T (p.Lys2194Asn)
n.6652A>T
c.*2264A>T (n.*2264A>T)
c.6507A>T (p.Lys2169Asn)
c.6579A>T (p.Lys2193Asn)
c.6504A>T (p.Lys2168Asn)
c.6204A>T (p.Lys2068Asn)
c.3468A>T (p.Lys1156Asn)
c.2361A>T (p.Lys787Asn)
c.6387A>T (p.Lys2129Asn)
c.2139A>T (p.Lys713Asn)
c.5367A>T (p.Lys1789Asn)
8g.99717224A>CCA371867187VPS13Bc.6583A>C (p.Thr2195Pro)
n.6653A>C
c.*2265A>C (n.*2265A>C)
c.6508A>C (p.Thr2170Pro)
c.6580A>C (p.Thr2194Pro)
c.6505A>C (p.Thr2169Pro)
c.6205A>C (p.Thr2069Pro)
c.3469A>C (p.Thr1157Pro)
c.2362A>C (p.Thr788Pro)
c.6388A>C (p.Thr2130Pro)
c.2140A>C (p.Thr714Pro)
c.5368A>C (p.Thr1790Pro)
8g.99717224A>GCA371867188VPS13Bc.6583A>G (p.Thr2195Ala)
n.6653A>G
c.*2265A>G (n.*2265A>G)
c.6508A>G (p.Thr2170Ala)
c.6580A>G (p.Thr2194Ala)
c.6505A>G (p.Thr2169Ala)
c.6205A>G (p.Thr2069Ala)
c.3469A>G (p.Thr1157Ala)
c.2362A>G (p.Thr788Ala)
c.6388A>G (p.Thr2130Ala)
c.2140A>G (p.Thr714Ala)
c.5368A>G (p.Thr1790Ala)
 gnomAD v4
8g.99717224A>TCA371867189VPS13Bc.6583A>T (p.Thr2195Ser)
n.6653A>T
c.*2265A>T (n.*2265A>T)
c.6508A>T (p.Thr2170Ser)
c.6580A>T (p.Thr2194Ser)
c.6505A>T (p.Thr2169Ser)
c.6205A>T (p.Thr2069Ser)
c.3469A>T (p.Thr1157Ser)
c.2362A>T (p.Thr788Ser)
c.6388A>T (p.Thr2130Ser)
c.2140A>T (p.Thr714Ser)
c.5368A>T (p.Thr1790Ser)
8g.99717225C>ACA371867190VPS13Bc.6584C>A (p.Thr2195Lys)
n.6654C>A
c.*2266C>A (n.*2266C>A)
c.6509C>A (p.Thr2170Lys)
c.6581C>A (p.Thr2194Lys)
c.6506C>A (p.Thr2169Lys)
c.6206C>A (p.Thr2069Lys)
c.3470C>A (p.Thr1157Lys)
c.2363C>A (p.Thr788Lys)
c.6389C>A (p.Thr2130Lys)
c.2141C>A (p.Thr714Lys)
c.5369C>A (p.Thr1790Lys)
8g.99717225C>GCA371867191VPS13Bc.6584C>G (p.Thr2195Arg)
n.6654C>G
c.*2266C>G (n.*2266C>G)
c.6509C>G (p.Thr2170Arg)
c.6581C>G (p.Thr2194Arg)
c.6506C>G (p.Thr2169Arg)
c.6206C>G (p.Thr2069Arg)
c.3470C>G (p.Thr1157Arg)
c.2363C>G (p.Thr788Arg)
c.6389C>G (p.Thr2130Arg)
c.2141C>G (p.Thr714Arg)
c.5369C>G (p.Thr1790Arg)
 gnomAD v4
8g.99717225C>TCA183028967VPS13Bc.6584C>T (p.Thr2195Ile)
n.6654C>T
c.*2266C>T (n.*2266C>T)
c.6509C>T (p.Thr2170Ile)
c.6581C>T (p.Thr2194Ile)
c.6506C>T (p.Thr2169Ile)
c.6206C>T (p.Thr2069Ile)
c.3470C>T (p.Thr1157Ile)
c.2363C>T (p.Thr788Ile)
c.6389C>T (p.Thr2130Ile)
c.2141C>T (p.Thr714Ile)
c.5369C>T (p.Thr1790Ile)
 dbSNP
8g.99717226A>CCA462440236VPS13Bc.6585A>C (p.Thr2195=)
n.6655A>C
c.*2267A>C (n.*2267A>C)
c.6510A>C (p.Thr2170=)
c.6582A>C (p.Thr2194=)
c.6507A>C (p.Thr2169=)
c.6207A>C (p.Thr2069=)
c.3471A>C (p.Thr1157=)
c.2364A>C (p.Thr788=)
c.6390A>C (p.Thr2130=)
c.2142A>C (p.Thr714=)
c.5370A>C (p.Thr1790=)
8g.99717226A>GCA462440235VPS13Bc.6585A>G (p.Thr2195=)
n.6655A>G
c.*2267A>G (n.*2267A>G)
c.6510A>G (p.Thr2170=)
c.6582A>G (p.Thr2194=)
c.6507A>G (p.Thr2169=)
c.6207A>G (p.Thr2069=)
c.3471A>G (p.Thr1157=)
c.2364A>G (p.Thr788=)
c.6390A>G (p.Thr2130=)
c.2142A>G (p.Thr714=)
c.5370A>G (p.Thr1790=)
8g.99717226A>TCA462440234VPS13Bc.6585A>T (p.Thr2195=)
n.6655A>T
c.*2267A>T (n.*2267A>T)
c.6510A>T (p.Thr2170=)
c.6582A>T (p.Thr2194=)
c.6507A>T (p.Thr2169=)
c.6207A>T (p.Thr2069=)
c.3471A>T (p.Thr1157=)
c.2364A>T (p.Thr788=)
c.6390A>T (p.Thr2130=)
c.2142A>T (p.Thr714=)
c.5370A>T (p.Thr1790=)
8g.99717227A>CCA371867192VPS13Bc.6586A>C (p.Ser2196Arg)
n.6656A>C
c.*2268A>C (n.*2268A>C)
c.6511A>C (p.Ser2171Arg)
c.6583A>C (p.Ser2195Arg)
c.6508A>C (p.Ser2170Arg)
c.6208A>C (p.Ser2070Arg)
c.3472A>C (p.Ser1158Arg)
c.2365A>C (p.Ser789Arg)
c.6391A>C (p.Ser2131Arg)
c.2143A>C (p.Ser715Arg)
c.5371A>C (p.Ser1791Arg)
8g.99717227A>GCA371867193VPS13Bc.6586A>G (p.Ser2196Gly)
n.6656A>G
c.*2268A>G (n.*2268A>G)
c.6511A>G (p.Ser2171Gly)
c.6583A>G (p.Ser2195Gly)
c.6508A>G (p.Ser2170Gly)
c.6208A>G (p.Ser2070Gly)
c.3472A>G (p.Ser1158Gly)
c.2365A>G (p.Ser789Gly)
c.6391A>G (p.Ser2131Gly)
c.2143A>G (p.Ser715Gly)
c.5371A>G (p.Ser1791Gly)
 ClinVar gnomAD v4
8g.99717227A>TCA371867194VPS13Bc.6586A>T (p.Ser2196Cys)
n.6656A>T
c.*2268A>T (n.*2268A>T)
c.6511A>T (p.Ser2171Cys)
c.6583A>T (p.Ser2195Cys)
c.6508A>T (p.Ser2170Cys)
c.6208A>T (p.Ser2070Cys)
c.3472A>T (p.Ser1158Cys)
c.2365A>T (p.Ser789Cys)
c.6391A>T (p.Ser2131Cys)
c.2143A>T (p.Ser715Cys)
c.5371A>T (p.Ser1791Cys)
8g.99717228G>ACA4824017VPS13Bc.6587G>A (p.Ser2196Asn)
n.6657G>A
c.*2269G>A (n.*2269G>A)
c.6512G>A (p.Ser2171Asn)
c.6584G>A (p.Ser2195Asn)
c.6509G>A (p.Ser2170Asn)
c.6209G>A (p.Ser2070Asn)
c.3473G>A (p.Ser1158Asn)
c.2366G>A (p.Ser789Asn)
c.6392G>A (p.Ser2131Asn)
c.2144G>A (p.Ser715Asn)
c.5372G>A (p.Ser1791Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99717228G>CCA371867196VPS13Bc.6587G>C (p.Ser2196Thr)
n.6657G>C
c.*2269G>C (n.*2269G>C)
c.6512G>C (p.Ser2171Thr)
c.6584G>C (p.Ser2195Thr)
c.6509G>C (p.Ser2170Thr)
c.6209G>C (p.Ser2070Thr)
c.3473G>C (p.Ser1158Thr)
c.2366G>C (p.Ser789Thr)
c.6392G>C (p.Ser2131Thr)
c.2144G>C (p.Ser715Thr)
c.5372G>C (p.Ser1791Thr)
8g.99717228G>TCA371867195VPS13Bc.6587G>T (p.Ser2196Ile)
n.6657G>T
c.*2269G>T (n.*2269G>T)
c.6512G>T (p.Ser2171Ile)
c.6584G>T (p.Ser2195Ile)
c.6509G>T (p.Ser2170Ile)
c.6209G>T (p.Ser2070Ile)
c.3473G>T (p.Ser1158Ile)
c.2366G>T (p.Ser789Ile)
c.6392G>T (p.Ser2131Ile)
c.2144G>T (p.Ser715Ile)
c.5372G>T (p.Ser1791Ile)
8g.99717229T>ACA371867197VPS13Bc.6588T>A (p.Ser2196Arg)
n.6658T>A
c.*2270T>A (n.*2270T>A)
c.6513T>A (p.Ser2171Arg)
c.6585T>A (p.Ser2195Arg)
c.6510T>A (p.Ser2170Arg)
c.6210T>A (p.Ser2070Arg)
c.3474T>A (p.Ser1158Arg)
c.2367T>A (p.Ser789Arg)
c.6393T>A (p.Ser2131Arg)
c.2145T>A (p.Ser715Arg)
c.5373T>A (p.Ser1791Arg)
 ClinVar gnomAD v4
8g.99717229T>CCA462440237VPS13Bc.6588T>C (p.Ser2196=)
n.6658T>C
c.*2270T>C (n.*2270T>C)
c.6513T>C (p.Ser2171=)
c.6585T>C (p.Ser2195=)
c.6510T>C (p.Ser2170=)
c.6210T>C (p.Ser2070=)
c.3474T>C (p.Ser1158=)
c.2367T>C (p.Ser789=)
c.6393T>C (p.Ser2131=)
c.2145T>C (p.Ser715=)
c.5373T>C (p.Ser1791=)
 ClinVar dbSNP
8g.99717229T>GCA371867198VPS13Bc.6588T>G (p.Ser2196Arg)
n.6658T>G
c.*2270T>G (n.*2270T>G)
c.6513T>G (p.Ser2171Arg)
c.6585T>G (p.Ser2195Arg)
c.6510T>G (p.Ser2170Arg)
c.6210T>G (p.Ser2070Arg)
c.3474T>G (p.Ser1158Arg)
c.2367T>G (p.Ser789Arg)
c.6393T>G (p.Ser2131Arg)
c.2145T>G (p.Ser715Arg)
c.5373T>G (p.Ser1791Arg)
8g.99717230C>ACA371867199VPS13Bc.6589C>A (p.Leu2197Ile)
n.6659C>A
c.*2271C>A (n.*2271C>A)
c.6514C>A (p.Leu2172Ile)
c.6586C>A (p.Leu2196Ile)
c.6511C>A (p.Leu2171Ile)
c.6211C>A (p.Leu2071Ile)
c.3475C>A (p.Leu1159Ile)
c.2368C>A (p.Leu790Ile)
c.6394C>A (p.Leu2132Ile)
c.2146C>A (p.Leu716Ile)
c.5374C>A (p.Leu1792Ile)
8g.99717230C>GCA371867200VPS13Bc.6589C>G (p.Leu2197Val)
n.6659C>G
c.*2271C>G (n.*2271C>G)
c.6514C>G (p.Leu2172Val)
c.6586C>G (p.Leu2196Val)
c.6511C>G (p.Leu2171Val)
c.6211C>G (p.Leu2071Val)
c.3475C>G (p.Leu1159Val)
c.2368C>G (p.Leu790Val)
c.6394C>G (p.Leu2132Val)
c.2146C>G (p.Leu716Val)
c.5374C>G (p.Leu1792Val)
8g.99717230C>TCA371867201VPS13Bc.6589C>T (p.Leu2197Phe)
n.6659C>T
c.*2271C>T (n.*2271C>T)
c.6514C>T (p.Leu2172Phe)
c.6586C>T (p.Leu2196Phe)
c.6511C>T (p.Leu2171Phe)
c.6211C>T (p.Leu2071Phe)
c.3475C>T (p.Leu1159Phe)
c.2368C>T (p.Leu790Phe)
c.6394C>T (p.Leu2132Phe)
c.2146C>T (p.Leu716Phe)
c.5374C>T (p.Leu1792Phe)
8g.99717231T>ACA371867202VPS13Bc.6590T>A (p.Leu2197His)
n.6660T>A
c.*2272T>A (n.*2272T>A)
c.6515T>A (p.Leu2172His)
c.6587T>A (p.Leu2196His)
c.6512T>A (p.Leu2171His)
c.6212T>A (p.Leu2071His)
c.3476T>A (p.Leu1159His)
c.2369T>A (p.Leu790His)
c.6395T>A (p.Leu2132His)
c.2147T>A (p.Leu716His)
c.5375T>A (p.Leu1792His)
8g.99717231T>CCA371867203VPS13Bc.6590T>C (p.Leu2197Pro)
n.6660T>C
c.*2272T>C (n.*2272T>C)
c.6515T>C (p.Leu2172Pro)
c.6587T>C (p.Leu2196Pro)
c.6512T>C (p.Leu2171Pro)
c.6212T>C (p.Leu2071Pro)
c.3476T>C (p.Leu1159Pro)
c.2369T>C (p.Leu790Pro)
c.6395T>C (p.Leu2132Pro)
c.2147T>C (p.Leu716Pro)
c.5375T>C (p.Leu1792Pro)
8g.99717231T>GCA371867204VPS13Bc.6590T>G (p.Leu2197Arg)
n.6660T>G
c.*2272T>G (n.*2272T>G)
c.6515T>G (p.Leu2172Arg)
c.6587T>G (p.Leu2196Arg)
c.6512T>G (p.Leu2171Arg)
c.6212T>G (p.Leu2071Arg)
c.3476T>G (p.Leu1159Arg)
c.2369T>G (p.Leu790Arg)
c.6395T>G (p.Leu2132Arg)
c.2147T>G (p.Leu716Arg)
c.5375T>G (p.Leu1792Arg)
 gnomAD v4
8g.99717232C>ACA462440238VPS13Bc.6591C>A (p.Leu2197=)
n.6661C>A
c.*2273C>A (n.*2273C>A)
c.6516C>A (p.Leu2172=)
c.6588C>A (p.Leu2196=)
c.6513C>A (p.Leu2171=)
c.6213C>A (p.Leu2071=)
c.3477C>A (p.Leu1159=)
c.2370C>A (p.Leu790=)
c.6396C>A (p.Leu2132=)
c.2148C>A (p.Leu716=)
c.5376C>A (p.Leu1792=)
8g.99717232C>GCA462440240VPS13Bc.6591C>G (p.Leu2197=)
n.6661C>G
c.*2273C>G (n.*2273C>G)
c.6516C>G (p.Leu2172=)
c.6588C>G (p.Leu2196=)
c.6513C>G (p.Leu2171=)
c.6213C>G (p.Leu2071=)
c.3477C>G (p.Leu1159=)
c.2370C>G (p.Leu790=)
c.6396C>G (p.Leu2132=)
c.2148C>G (p.Leu716=)
c.5376C>G (p.Leu1792=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717232C>TCA462440239VPS13Bc.6591C>T (p.Leu2197=)
n.6661C>T
c.*2273C>T (n.*2273C>T)
c.6516C>T (p.Leu2172=)
c.6588C>T (p.Leu2196=)
c.6513C>T (p.Leu2171=)
c.6213C>T (p.Leu2071=)
c.3477C>T (p.Leu1159=)
c.2370C>T (p.Leu790=)
c.6396C>T (p.Leu2132=)
c.2148C>T (p.Leu716=)
c.5376C>T (p.Leu1792=)
 dbSNP gnomAD v2 gnomAD v4
8g.99717233A>CCA371867205VPS13Bc.6592A>C (p.Lys2198Gln)
n.6662A>C
c.*2274A>C (n.*2274A>C)
c.6517A>C (p.Lys2173Gln)
c.6589A>C (p.Lys2197Gln)
c.6514A>C (p.Lys2172Gln)
c.6214A>C (p.Lys2072Gln)
c.3478A>C (p.Lys1160Gln)
c.2371A>C (p.Lys791Gln)
c.6397A>C (p.Lys2133Gln)
c.2149A>C (p.Lys717Gln)
c.5377A>C (p.Lys1793Gln)
8g.99717233A>GCA371867206VPS13Bc.6592A>G (p.Lys2198Glu)
n.6662A>G
c.*2274A>G (n.*2274A>G)
c.6517A>G (p.Lys2173Glu)
c.6589A>G (p.Lys2197Glu)
c.6514A>G (p.Lys2172Glu)
c.6214A>G (p.Lys2072Glu)
c.3478A>G (p.Lys1160Glu)
c.2371A>G (p.Lys791Glu)
c.6397A>G (p.Lys2133Glu)
c.2149A>G (p.Lys717Glu)
c.5377A>G (p.Lys1793Glu)
8g.99717233A>TCA371867207VPS13Bc.6592A>T (p.Lys2198Ter)
n.6662A>T
c.*2274A>T (n.*2274A>T)
c.6517A>T (p.Lys2173Ter)
c.6589A>T (p.Lys2197Ter)
c.6514A>T (p.Lys2172Ter)
c.6214A>T (p.Lys2072Ter)
c.3478A>T (p.Lys1160Ter)
c.2371A>T (p.Lys791Ter)
c.6397A>T (p.Lys2133Ter)
c.2149A>T (p.Lys717Ter)
c.5377A>T (p.Lys1793Ter)
8g.99717239_99717242delCA2697550038VPS13Bc.6598_6601del (p.Arg2200AlafsTer4)
n.6668_6671del
c.*2280_*2283del (n.*2280_*2283del)
c.6523_6526del (p.Arg2175AlafsTer4)
c.6595_6598del (p.Arg2199AlafsTer4)
c.6520_6523del (p.Arg2174AlafsTer4)
c.6220_6223del (p.Arg2074AlafsTer4)
c.3484_3487del (p.Arg1162AlafsTer4)
c.2377_2380del (p.Arg793AlafsTer4)
c.6403_6406del (p.Arg2135AlafsTer4)
c.2155_2158del (p.Arg719AlafsTer4)
c.5383_5386del (p.Arg1795AlafsTer4)
 ClinVar
8g.99717234A>CCA371867208VPS13Bc.6593A>C (p.Lys2198Thr)
n.6663A>C
c.*2275A>C (n.*2275A>C)
c.6518A>C (p.Lys2173Thr)
c.6590A>C (p.Lys2197Thr)
c.6515A>C (p.Lys2172Thr)
c.6215A>C (p.Lys2072Thr)
c.3479A>C (p.Lys1160Thr)
c.2372A>C (p.Lys791Thr)
c.6398A>C (p.Lys2133Thr)
c.2150A>C (p.Lys717Thr)
c.5378A>C (p.Lys1793Thr)
 dbSNP
8g.99717234A>GCA371867209VPS13Bc.6593A>G (p.Lys2198Arg)
n.6663A>G
c.*2275A>G (n.*2275A>G)
c.6518A>G (p.Lys2173Arg)
c.6590A>G (p.Lys2197Arg)
c.6515A>G (p.Lys2172Arg)
c.6215A>G (p.Lys2072Arg)
c.3479A>G (p.Lys1160Arg)
c.2372A>G (p.Lys791Arg)
c.6398A>G (p.Lys2133Arg)
c.2150A>G (p.Lys717Arg)
c.5378A>G (p.Lys1793Arg)
 dbSNP gnomAD v4
8g.99717234A>TCA371867210VPS13Bc.6593A>T (p.Lys2198Ile)
n.6663A>T
c.*2275A>T (n.*2275A>T)
c.6518A>T (p.Lys2173Ile)
c.6590A>T (p.Lys2197Ile)
c.6515A>T (p.Lys2172Ile)
c.6215A>T (p.Lys2072Ile)
c.3479A>T (p.Lys1160Ile)
c.2372A>T (p.Lys791Ile)
c.6398A>T (p.Lys2133Ile)
c.2150A>T (p.Lys717Ile)
c.5378A>T (p.Lys1793Ile)
8g.99717235A>CCA371867211VPS13Bc.6594A>C (p.Lys2198Asn)
n.6664A>C
c.*2276A>C (n.*2276A>C)
c.6519A>C (p.Lys2173Asn)
c.6591A>C (p.Lys2197Asn)
c.6516A>C (p.Lys2172Asn)
c.6216A>C (p.Lys2072Asn)
c.3480A>C (p.Lys1160Asn)
c.2373A>C (p.Lys791Asn)
c.6399A>C (p.Lys2133Asn)
c.2151A>C (p.Lys717Asn)
c.5379A>C (p.Lys1793Asn)
8g.99717235A>GCA462440241VPS13Bc.6594A>G (p.Lys2198=)
n.6664A>G
c.*2276A>G (n.*2276A>G)
c.6519A>G (p.Lys2173=)
c.6591A>G (p.Lys2197=)
c.6516A>G (p.Lys2172=)
c.6216A>G (p.Lys2072=)
c.3480A>G (p.Lys1160=)
c.2373A>G (p.Lys791=)
c.6399A>G (p.Lys2133=)
c.2151A>G (p.Lys717=)
c.5379A>G (p.Lys1793=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717235A>TCA371867212VPS13Bc.6594A>T (p.Lys2198Asn)
n.6664A>T
c.*2276A>T (n.*2276A>T)
c.6519A>T (p.Lys2173Asn)
c.6591A>T (p.Lys2197Asn)
c.6516A>T (p.Lys2172Asn)
c.6216A>T (p.Lys2072Asn)
c.3480A>T (p.Lys1160Asn)
c.2373A>T (p.Lys791Asn)
c.6399A>T (p.Lys2133Asn)
c.2151A>T (p.Lys717Asn)
c.5379A>T (p.Lys1793Asn)
8g.99717236G>ACA371867213VPS13Bc.6595G>A (p.Glu2199Lys)
n.6665G>A
c.*2277G>A (n.*2277G>A)
c.6520G>A (p.Glu2174Lys)
c.6592G>A (p.Glu2198Lys)
c.6517G>A (p.Glu2173Lys)
c.6217G>A (p.Glu2073Lys)
c.3481G>A (p.Glu1161Lys)
c.2374G>A (p.Glu792Lys)
c.6400G>A (p.Glu2134Lys)
c.2152G>A (p.Glu718Lys)
c.5380G>A (p.Glu1794Lys)
 gnomAD v4
8g.99717236G>CCA371867214VPS13Bc.6595G>C (p.Glu2199Gln)
n.6665G>C
c.*2277G>C (n.*2277G>C)
c.6520G>C (p.Glu2174Gln)
c.6592G>C (p.Glu2198Gln)
c.6517G>C (p.Glu2173Gln)
c.6217G>C (p.Glu2073Gln)
c.3481G>C (p.Glu1161Gln)
c.2374G>C (p.Glu792Gln)
c.6400G>C (p.Glu2134Gln)
c.2152G>C (p.Glu718Gln)
c.5380G>C (p.Glu1794Gln)
8g.99717236G>TCA371867215VPS13Bc.6595G>T (p.Glu2199Ter)
n.6665G>T
c.*2277G>T (n.*2277G>T)
c.6520G>T (p.Glu2174Ter)
c.6592G>T (p.Glu2198Ter)
c.6517G>T (p.Glu2173Ter)
c.6217G>T (p.Glu2073Ter)
c.3481G>T (p.Glu1161Ter)
c.2374G>T (p.Glu792Ter)
c.6400G>T (p.Glu2134Ter)
c.2152G>T (p.Glu718Ter)
c.5380G>T (p.Glu1794Ter)
8g.99717237A>CCA371867216VPS13Bc.6596A>C (p.Glu2199Ala)
n.6666A>C
c.*2278A>C (n.*2278A>C)
c.6521A>C (p.Glu2174Ala)
c.6593A>C (p.Glu2198Ala)
c.6518A>C (p.Glu2173Ala)
c.6218A>C (p.Glu2073Ala)
c.3482A>C (p.Glu1161Ala)
c.2375A>C (p.Glu792Ala)
c.6401A>C (p.Glu2134Ala)
c.2153A>C (p.Glu718Ala)
c.5381A>C (p.Glu1794Ala)
8g.99717237A>GCA371867217VPS13Bc.6596A>G (p.Glu2199Gly)
n.6666A>G
c.*2278A>G (n.*2278A>G)
c.6521A>G (p.Glu2174Gly)
c.6593A>G (p.Glu2198Gly)
c.6518A>G (p.Glu2173Gly)
c.6218A>G (p.Glu2073Gly)
c.3482A>G (p.Glu1161Gly)
c.2375A>G (p.Glu792Gly)
c.6401A>G (p.Glu2134Gly)
c.2153A>G (p.Glu718Gly)
c.5381A>G (p.Glu1794Gly)
8g.99717237A>TCA371867218VPS13Bc.6596A>T (p.Glu2199Val)
n.6666A>T
c.*2278A>T (n.*2278A>T)
c.6521A>T (p.Glu2174Val)
c.6593A>T (p.Glu2198Val)
c.6518A>T (p.Glu2173Val)
c.6218A>T (p.Glu2073Val)
c.3482A>T (p.Glu1161Val)
c.2375A>T (p.Glu792Val)
c.6401A>T (p.Glu2134Val)
c.2153A>T (p.Glu718Val)
c.5381A>T (p.Glu1794Val)
8g.99717238A>CCA371867219VPS13Bc.6597A>C (p.Glu2199Asp)
n.6667A>C
c.*2279A>C (n.*2279A>C)
c.6522A>C (p.Glu2174Asp)
c.6594A>C (p.Glu2198Asp)
c.6519A>C (p.Glu2173Asp)
c.6219A>C (p.Glu2073Asp)
c.3483A>C (p.Glu1161Asp)
c.2376A>C (p.Glu792Asp)
c.6402A>C (p.Glu2134Asp)
c.2154A>C (p.Glu718Asp)
c.5382A>C (p.Glu1794Asp)
8g.99717238A>GCA462440242VPS13Bc.6597A>G (p.Glu2199=)
n.6667A>G
c.*2279A>G (n.*2279A>G)
c.6522A>G (p.Glu2174=)
c.6594A>G (p.Glu2198=)
c.6519A>G (p.Glu2173=)
c.6219A>G (p.Glu2073=)
c.3483A>G (p.Glu1161=)
c.2376A>G (p.Glu792=)
c.6402A>G (p.Glu2134=)
c.2154A>G (p.Glu718=)
c.5382A>G (p.Glu1794=)
8g.99717238A>TCA371867220VPS13Bc.6597A>T (p.Glu2199Asp)
n.6667A>T
c.*2279A>T (n.*2279A>T)
c.6522A>T (p.Glu2174Asp)
c.6594A>T (p.Glu2198Asp)
c.6519A>T (p.Glu2173Asp)
c.6219A>T (p.Glu2073Asp)
c.3483A>T (p.Glu1161Asp)
c.2376A>T (p.Glu792Asp)
c.6402A>T (p.Glu2134Asp)
c.2154A>T (p.Glu718Asp)
c.5382A>T (p.Glu1794Asp)
8g.99717239A>CCA462440243VPS13Bc.6598A>C (p.Arg2200=)
n.6668A>C
c.*2280A>C (n.*2280A>C)
c.6523A>C (p.Arg2175=)
c.6595A>C (p.Arg2199=)
c.6520A>C (p.Arg2174=)
c.6220A>C (p.Arg2074=)
c.3484A>C (p.Arg1162=)
c.2377A>C (p.Arg793=)
c.6403A>C (p.Arg2135=)
c.2155A>C (p.Arg719=)
c.5383A>C (p.Arg1795=)
8g.99717239A>GCA371867221VPS13Bc.6598A>G (p.Arg2200Gly)
n.6668A>G
c.*2280A>G (n.*2280A>G)
c.6523A>G (p.Arg2175Gly)
c.6595A>G (p.Arg2199Gly)
c.6520A>G (p.Arg2174Gly)
c.6220A>G (p.Arg2074Gly)
c.3484A>G (p.Arg1162Gly)
c.2377A>G (p.Arg793Gly)
c.6403A>G (p.Arg2135Gly)
c.2155A>G (p.Arg719Gly)
c.5383A>G (p.Arg1795Gly)
8g.99717239A>TCA371867222VPS13Bc.6598A>T (p.Arg2200Ter)
n.6668A>T
c.*2280A>T (n.*2280A>T)
c.6523A>T (p.Arg2175Ter)
c.6595A>T (p.Arg2199Ter)
c.6520A>T (p.Arg2174Ter)
c.6220A>T (p.Arg2074Ter)
c.3484A>T (p.Arg1162Ter)
c.2377A>T (p.Arg793Ter)
c.6403A>T (p.Arg2135Ter)
c.2155A>T (p.Arg719Ter)
c.5383A>T (p.Arg1795Ter)
8g.99717240G>ACA4824018VPS13Bc.6599G>A (p.Arg2200Lys)
n.6669G>A
c.*2281G>A (n.*2281G>A)
c.6524G>A (p.Arg2175Lys)
c.6596G>A (p.Arg2199Lys)
c.6521G>A (p.Arg2174Lys)
c.6221G>A (p.Arg2074Lys)
c.3485G>A (p.Arg1162Lys)
c.2378G>A (p.Arg793Lys)
c.6404G>A (p.Arg2135Lys)
c.2156G>A (p.Arg719Lys)
c.5384G>A (p.Arg1795Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717240G>CCA371867223VPS13Bc.6599G>C (p.Arg2200Thr)
n.6669G>C
c.*2281G>C (n.*2281G>C)
c.6524G>C (p.Arg2175Thr)
c.6596G>C (p.Arg2199Thr)
c.6521G>C (p.Arg2174Thr)
c.6221G>C (p.Arg2074Thr)
c.3485G>C (p.Arg1162Thr)
c.2378G>C (p.Arg793Thr)
c.6404G>C (p.Arg2135Thr)
c.2156G>C (p.Arg719Thr)
c.5384G>C (p.Arg1795Thr)
8g.99717240G>TCA371867224VPS13Bc.6599G>T (p.Arg2200Ile)
n.6669G>T
c.*2281G>T (n.*2281G>T)
c.6524G>T (p.Arg2175Ile)
c.6596G>T (p.Arg2199Ile)
c.6521G>T (p.Arg2174Ile)
c.6221G>T (p.Arg2074Ile)
c.3485G>T (p.Arg1162Ile)
c.2378G>T (p.Arg793Ile)
c.6404G>T (p.Arg2135Ile)
c.2156G>T (p.Arg719Ile)
c.5384G>T (p.Arg1795Ile)
 ClinVar dbSNP gnomAD v4
8g.99717241A>CCA371867225VPS13Bc.6600A>C (p.Arg2200Ser)
n.6670A>C
c.*2282A>C (n.*2282A>C)
c.6525A>C (p.Arg2175Ser)
c.6597A>C (p.Arg2199Ser)
c.6522A>C (p.Arg2174Ser)
c.6222A>C (p.Arg2074Ser)
c.3486A>C (p.Arg1162Ser)
c.2379A>C (p.Arg793Ser)
c.6405A>C (p.Arg2135Ser)
c.2157A>C (p.Arg719Ser)
c.5385A>C (p.Arg1795Ser)
8g.99717241A>GCA462440244VPS13Bc.6600A>G (p.Arg2200=)
n.6670A>G
c.*2282A>G (n.*2282A>G)
c.6525A>G (p.Arg2175=)
c.6597A>G (p.Arg2199=)
c.6522A>G (p.Arg2174=)
c.6222A>G (p.Arg2074=)
c.3486A>G (p.Arg1162=)
c.2379A>G (p.Arg793=)
c.6405A>G (p.Arg2135=)
c.2157A>G (p.Arg719=)
c.5385A>G (p.Arg1795=)
8g.99717241A>TCA371867226VPS13Bc.6600A>T (p.Arg2200Ser)
n.6670A>T
c.*2282A>T (n.*2282A>T)
c.6525A>T (p.Arg2175Ser)
c.6597A>T (p.Arg2199Ser)
c.6522A>T (p.Arg2174Ser)
c.6222A>T (p.Arg2074Ser)
c.3486A>T (p.Arg1162Ser)
c.2379A>T (p.Arg793Ser)
c.6405A>T (p.Arg2135Ser)
c.2157A>T (p.Arg719Ser)
c.5385A>T (p.Arg1795Ser)
8g.99717242A>CCA371867227VPS13Bc.6601A>C (p.Ser2201Arg)
n.6671A>C
c.*2283A>C (n.*2283A>C)
c.6526A>C (p.Ser2176Arg)
c.6598A>C (p.Ser2200Arg)
c.6523A>C (p.Ser2175Arg)
c.6223A>C (p.Ser2075Arg)
c.3487A>C (p.Ser1163Arg)
c.2380A>C (p.Ser794Arg)
c.6406A>C (p.Ser2136Arg)
c.2158A>C (p.Ser720Arg)
c.5386A>C (p.Ser1796Arg)
8g.99717242A>GCA371867229VPS13Bc.6601A>G (p.Ser2201Gly)
n.6671A>G
c.*2283A>G (n.*2283A>G)
c.6526A>G (p.Ser2176Gly)
c.6598A>G (p.Ser2200Gly)
c.6523A>G (p.Ser2175Gly)
c.6223A>G (p.Ser2075Gly)
c.3487A>G (p.Ser1163Gly)
c.2380A>G (p.Ser794Gly)
c.6406A>G (p.Ser2136Gly)
c.2158A>G (p.Ser720Gly)
c.5386A>G (p.Ser1796Gly)
8g.99717242A>TCA371867228VPS13Bc.6601A>T (p.Ser2201Cys)
n.6671A>T
c.*2283A>T (n.*2283A>T)
c.6526A>T (p.Ser2176Cys)
c.6598A>T (p.Ser2200Cys)
c.6523A>T (p.Ser2175Cys)
c.6223A>T (p.Ser2075Cys)
c.3487A>T (p.Ser1163Cys)
c.2380A>T (p.Ser794Cys)
c.6406A>T (p.Ser2136Cys)
c.2158A>T (p.Ser720Cys)
c.5386A>T (p.Ser1796Cys)
8g.99717243G>ACA4824019VPS13Bc.6602G>A (p.Ser2201Asn)
n.6672G>A
c.*2284G>A (n.*2284G>A)
c.6527G>A (p.Ser2176Asn)
c.6599G>A (p.Ser2200Asn)
c.6524G>A (p.Ser2175Asn)
c.6224G>A (p.Ser2075Asn)
c.3488G>A (p.Ser1163Asn)
c.2381G>A (p.Ser794Asn)
c.6407G>A (p.Ser2136Asn)
c.2159G>A (p.Ser720Asn)
c.5387G>A (p.Ser1796Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717243G>CCA371867230VPS13Bc.6602G>C (p.Ser2201Thr)
n.6672G>C
c.*2284G>C (n.*2284G>C)
c.6527G>C (p.Ser2176Thr)
c.6599G>C (p.Ser2200Thr)
c.6524G>C (p.Ser2175Thr)
c.6224G>C (p.Ser2075Thr)
c.3488G>C (p.Ser1163Thr)
c.2381G>C (p.Ser794Thr)
c.6407G>C (p.Ser2136Thr)
c.2159G>C (p.Ser720Thr)
c.5387G>C (p.Ser1796Thr)
8g.99717243G>TCA371867231VPS13Bc.6602G>T (p.Ser2201Ile)
n.6672G>T
c.*2284G>T (n.*2284G>T)
c.6527G>T (p.Ser2176Ile)
c.6599G>T (p.Ser2200Ile)
c.6524G>T (p.Ser2175Ile)
c.6224G>T (p.Ser2075Ile)
c.3488G>T (p.Ser1163Ile)
c.2381G>T (p.Ser794Ile)
c.6407G>T (p.Ser2136Ile)
c.2159G>T (p.Ser720Ile)
c.5387G>T (p.Ser1796Ile)
8g.99717244C>ACA371867232VPS13Bc.6603C>A (p.Ser2201Arg)
n.6673C>A
c.*2285C>A (n.*2285C>A)
c.6528C>A (p.Ser2176Arg)
c.6600C>A (p.Ser2200Arg)
c.6525C>A (p.Ser2175Arg)
c.6225C>A (p.Ser2075Arg)
c.3489C>A (p.Ser1163Arg)
c.2382C>A (p.Ser794Arg)
c.6408C>A (p.Ser2136Arg)
c.2160C>A (p.Ser720Arg)
c.5388C>A (p.Ser1796Arg)
8g.99717244C>GCA371867233VPS13Bc.6603C>G (p.Ser2201Arg)
n.6673C>G
c.*2285C>G (n.*2285C>G)
c.6528C>G (p.Ser2176Arg)
c.6600C>G (p.Ser2200Arg)
c.6525C>G (p.Ser2175Arg)
c.6225C>G (p.Ser2075Arg)
c.3489C>G (p.Ser1163Arg)
c.2382C>G (p.Ser794Arg)
c.6408C>G (p.Ser2136Arg)
c.2160C>G (p.Ser720Arg)
c.5388C>G (p.Ser1796Arg)
8g.99717244C>TCA4824020VPS13Bc.6603C>T (p.Ser2201=)
n.6673C>T
c.*2285C>T (n.*2285C>T)
c.6528C>T (p.Ser2176=)
c.6600C>T (p.Ser2200=)
c.6525C>T (p.Ser2175=)
c.6225C>T (p.Ser2075=)
c.3489C>T (p.Ser1163=)
c.2382C>T (p.Ser794=)
c.6408C>T (p.Ser2136=)
c.2160C>T (p.Ser720=)
c.5388C>T (p.Ser1796=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717245C>ACA371867234VPS13Bc.6604C>A (p.Arg2202Ser)
n.6674C>A
c.*2286C>A (n.*2286C>A)
c.6529C>A (p.Arg2177Ser)
c.6601C>A (p.Arg2201Ser)
c.6526C>A (p.Arg2176Ser)
c.6226C>A (p.Arg2076Ser)
c.3490C>A (p.Arg1164Ser)
c.2383C>A (p.Arg795Ser)
c.6409C>A (p.Arg2137Ser)
c.2161C>A (p.Arg721Ser)
c.5389C>A (p.Arg1797Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99717245C>GCA371867235VPS13Bc.6604C>G (p.Arg2202Gly)
n.6674C>G
c.*2286C>G (n.*2286C>G)
c.6529C>G (p.Arg2177Gly)
c.6601C>G (p.Arg2201Gly)
c.6526C>G (p.Arg2176Gly)
c.6226C>G (p.Arg2076Gly)
c.3490C>G (p.Arg1164Gly)
c.2383C>G (p.Arg795Gly)
c.6409C>G (p.Arg2137Gly)
c.2161C>G (p.Arg721Gly)
c.5389C>G (p.Arg1797Gly)
8g.99717245C>TCA4824021VPS13Bc.6604C>T (p.Arg2202Cys)
n.6674C>T
c.*2286C>T (n.*2286C>T)
c.6529C>T (p.Arg2177Cys)
c.6601C>T (p.Arg2201Cys)
c.6526C>T (p.Arg2176Cys)
c.6226C>T (p.Arg2076Cys)
c.3490C>T (p.Arg1164Cys)
c.2383C>T (p.Arg795Cys)
c.6409C>T (p.Arg2137Cys)
c.2161C>T (p.Arg721Cys)
c.5389C>T (p.Arg1797Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.99717246G>ACA4824022VPS13Bc.6605G>A (p.Arg2202His)
n.6675G>A
c.*2287G>A (n.*2287G>A)
c.6530G>A (p.Arg2177His)
c.6602G>A (p.Arg2201His)
c.6527G>A (p.Arg2176His)
c.6227G>A (p.Arg2076His)
c.3491G>A (p.Arg1164His)
c.2384G>A (p.Arg795His)
c.6410G>A (p.Arg2137His)
c.2162G>A (p.Arg721His)
c.5390G>A (p.Arg1797His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717246G>CCA371867236VPS13Bc.6605G>C (p.Arg2202Pro)
n.6675G>C
c.*2287G>C (n.*2287G>C)
c.6530G>C (p.Arg2177Pro)
c.6602G>C (p.Arg2201Pro)
c.6527G>C (p.Arg2176Pro)
c.6227G>C (p.Arg2076Pro)
c.3491G>C (p.Arg1164Pro)
c.2384G>C (p.Arg795Pro)
c.6410G>C (p.Arg2137Pro)
c.2162G>C (p.Arg721Pro)
c.5390G>C (p.Arg1797Pro)
8g.99717246G>TCA371867237VPS13Bc.6605G>T (p.Arg2202Leu)
n.6675G>T
c.*2287G>T (n.*2287G>T)
c.6530G>T (p.Arg2177Leu)
c.6602G>T (p.Arg2201Leu)
c.6527G>T (p.Arg2176Leu)
c.6227G>T (p.Arg2076Leu)
c.3491G>T (p.Arg1164Leu)
c.2384G>T (p.Arg795Leu)
c.6410G>T (p.Arg2137Leu)
c.2162G>T (p.Arg721Leu)
c.5390G>T (p.Arg1797Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717247C>ACA462440246VPS13Bc.6606C>A (p.Arg2202=)
n.6676C>A
c.*2288C>A (n.*2288C>A)
c.6531C>A (p.Arg2177=)
c.6603C>A (p.Arg2201=)
c.6528C>A (p.Arg2176=)
c.6228C>A (p.Arg2076=)
c.3492C>A (p.Arg1164=)
c.2385C>A (p.Arg795=)
c.6411C>A (p.Arg2137=)
c.2163C>A (p.Arg721=)
c.5391C>A (p.Arg1797=)
8g.99717247C>GCA462440245VPS13Bc.6606C>G (p.Arg2202=)
n.6676C>G
c.*2288C>G (n.*2288C>G)
c.6531C>G (p.Arg2177=)
c.6603C>G (p.Arg2201=)
c.6528C>G (p.Arg2176=)
c.6228C>G (p.Arg2076=)
c.3492C>G (p.Arg1164=)
c.2385C>G (p.Arg795=)
c.6411C>G (p.Arg2137=)
c.2163C>G (p.Arg721=)
c.5391C>G (p.Arg1797=)
8g.99717247C>TCA4824023VPS13Bc.6606C>T (p.Arg2202=)
n.6676C>T
c.*2288C>T (n.*2288C>T)
c.6531C>T (p.Arg2177=)
c.6603C>T (p.Arg2201=)
c.6528C>T (p.Arg2176=)
c.6228C>T (p.Arg2076=)
c.3492C>T (p.Arg1164=)
c.2385C>T (p.Arg795=)
c.6411C>T (p.Arg2137=)
c.2163C>T (p.Arg721=)
c.5391C>T (p.Arg1797=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717248A>CCA371867238VPS13Bc.6607A>C (p.Ile2203Leu)
n.6677A>C
c.*2289A>C (n.*2289A>C)
c.6532A>C (p.Ile2178Leu)
c.6604A>C (p.Ile2202Leu)
c.6529A>C (p.Ile2177Leu)
c.6229A>C (p.Ile2077Leu)
c.3493A>C (p.Ile1165Leu)
c.2386A>C (p.Ile796Leu)
c.6412A>C (p.Ile2138Leu)
c.2164A>C (p.Ile722Leu)
c.5392A>C (p.Ile1798Leu)
 gnomAD v4
8g.99717248A>GCA371867239VPS13Bc.6607A>G (p.Ile2203Val)
n.6677A>G
c.*2289A>G (n.*2289A>G)
c.6532A>G (p.Ile2178Val)
c.6604A>G (p.Ile2202Val)
c.6529A>G (p.Ile2177Val)
c.6229A>G (p.Ile2077Val)
c.3493A>G (p.Ile1165Val)
c.2386A>G (p.Ile796Val)
c.6412A>G (p.Ile2138Val)
c.2164A>G (p.Ile722Val)
c.5392A>G (p.Ile1798Val)
 dbSNP
8g.99717248A>TCA371867240VPS13Bc.6607A>T (p.Ile2203Phe)
n.6677A>T
c.*2289A>T (n.*2289A>T)
c.6532A>T (p.Ile2178Phe)
c.6604A>T (p.Ile2202Phe)
c.6529A>T (p.Ile2177Phe)
c.6229A>T (p.Ile2077Phe)
c.3493A>T (p.Ile1165Phe)
c.2386A>T (p.Ile796Phe)
c.6412A>T (p.Ile2138Phe)
c.2164A>T (p.Ile722Phe)
c.5392A>T (p.Ile1798Phe)
 dbSNP
8g.99717249T>ACA371867241VPS13Bc.6608T>A (p.Ile2203Asn)
n.6678T>A
c.*2290T>A (n.*2290T>A)
c.6533T>A (p.Ile2178Asn)
c.6605T>A (p.Ile2202Asn)
c.6530T>A (p.Ile2177Asn)
c.6230T>A (p.Ile2077Asn)
c.3494T>A (p.Ile1165Asn)
c.2387T>A (p.Ile796Asn)
c.6413T>A (p.Ile2138Asn)
c.2165T>A (p.Ile722Asn)
c.5393T>A (p.Ile1798Asn)
8g.99717249T>CCA371867242VPS13Bc.6608T>C (p.Ile2203Thr)
n.6678T>C
c.*2290T>C (n.*2290T>C)
c.6533T>C (p.Ile2178Thr)
c.6605T>C (p.Ile2202Thr)
c.6530T>C (p.Ile2177Thr)
c.6230T>C (p.Ile2077Thr)
c.3494T>C (p.Ile1165Thr)
c.2387T>C (p.Ile796Thr)
c.6413T>C (p.Ile2138Thr)
c.2165T>C (p.Ile722Thr)
c.5393T>C (p.Ile1798Thr)
8g.99717249T>GCA371867243VPS13Bc.6608T>G (p.Ile2203Ser)
n.6678T>G
c.*2290T>G (n.*2290T>G)
c.6533T>G (p.Ile2178Ser)
c.6605T>G (p.Ile2202Ser)
c.6530T>G (p.Ile2177Ser)
c.6230T>G (p.Ile2077Ser)
c.3494T>G (p.Ile1165Ser)
c.2387T>G (p.Ile796Ser)
c.6413T>G (p.Ile2138Ser)
c.2165T>G (p.Ile722Ser)
c.5393T>G (p.Ile1798Ser)
8g.99717250T>ACA462440247VPS13Bc.6609T>A (p.Ile2203=)
n.6679T>A
c.*2291T>A (n.*2291T>A)
c.6534T>A (p.Ile2178=)
c.6606T>A (p.Ile2202=)
c.6531T>A (p.Ile2177=)
c.6231T>A (p.Ile2077=)
c.3495T>A (p.Ile1165=)
c.2388T>A (p.Ile796=)
c.6414T>A (p.Ile2138=)
c.2166T>A (p.Ile722=)
c.5394T>A (p.Ile1798=)
8g.99717250T>CCA462440248VPS13Bc.6609T>C (p.Ile2203=)
n.6679T>C
c.*2291T>C (n.*2291T>C)
c.6534T>C (p.Ile2178=)
c.6606T>C (p.Ile2202=)
c.6531T>C (p.Ile2177=)
c.6231T>C (p.Ile2077=)
c.3495T>C (p.Ile1165=)
c.2388T>C (p.Ile796=)
c.6414T>C (p.Ile2138=)
c.2166T>C (p.Ile722=)
c.5394T>C (p.Ile1798=)
8g.99717250T>GCA371867244VPS13Bc.6609T>G (p.Ile2203Met)
n.6679T>G
c.*2291T>G (n.*2291T>G)
c.6534T>G (p.Ile2178Met)
c.6606T>G (p.Ile2202Met)
c.6531T>G (p.Ile2177Met)
c.6231T>G (p.Ile2077Met)
c.3495T>G (p.Ile1165Met)
c.2388T>G (p.Ile796Met)
c.6414T>G (p.Ile2138Met)
c.2166T>G (p.Ile722Met)
c.5394T>G (p.Ile1798Met)
8g.99717251C>ACA371867245VPS13Bc.6610C>A (p.Leu2204Met)
n.6680C>A
c.*2292C>A (n.*2292C>A)
c.6535C>A (p.Leu2179Met)
c.6607C>A (p.Leu2203Met)
c.6532C>A (p.Leu2178Met)
c.6232C>A (p.Leu2078Met)
c.3496C>A (p.Leu1166Met)
c.2389C>A (p.Leu797Met)
c.6415C>A (p.Leu2139Met)
c.2167C>A (p.Leu723Met)
c.5395C>A (p.Leu1799Met)
8g.99717251C>GCA371867246VPS13Bc.6610C>G (p.Leu2204Val)
n.6680C>G
c.*2292C>G (n.*2292C>G)
c.6535C>G (p.Leu2179Val)
c.6607C>G (p.Leu2203Val)
c.6532C>G (p.Leu2178Val)
c.6232C>G (p.Leu2078Val)
c.3496C>G (p.Leu1166Val)
c.2389C>G (p.Leu797Val)
c.6415C>G (p.Leu2139Val)
c.2167C>G (p.Leu723Val)
c.5395C>G (p.Leu1799Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717251C>TCA462440249VPS13Bc.6610C>T (p.Leu2204=)
n.6680C>T
c.*2292C>T (n.*2292C>T)
c.6535C>T (p.Leu2179=)
c.6607C>T (p.Leu2203=)
c.6532C>T (p.Leu2178=)
c.6232C>T (p.Leu2078=)
c.3496C>T (p.Leu1166=)
c.2389C>T (p.Leu797=)
c.6415C>T (p.Leu2139=)
c.2167C>T (p.Leu723=)
c.5395C>T (p.Leu1799=)
8g.99717252T>ACA371867247VPS13Bc.6611T>A (p.Leu2204Gln)
n.6681T>A
c.*2293T>A (n.*2293T>A)
c.6536T>A (p.Leu2179Gln)
c.6608T>A (p.Leu2203Gln)
c.6533T>A (p.Leu2178Gln)
c.6233T>A (p.Leu2078Gln)
c.3497T>A (p.Leu1166Gln)
c.2390T>A (p.Leu797Gln)
c.6416T>A (p.Leu2139Gln)
c.2168T>A (p.Leu723Gln)
c.5396T>A (p.Leu1799Gln)
8g.99717252T>CCA371867248VPS13Bc.6611T>C (p.Leu2204Pro)
n.6681T>C
c.*2293T>C (n.*2293T>C)
c.6536T>C (p.Leu2179Pro)
c.6608T>C (p.Leu2203Pro)
c.6533T>C (p.Leu2178Pro)
c.6233T>C (p.Leu2078Pro)
c.3497T>C (p.Leu1166Pro)
c.2390T>C (p.Leu797Pro)
c.6416T>C (p.Leu2139Pro)
c.2168T>C (p.Leu723Pro)
c.5396T>C (p.Leu1799Pro)
8g.99717252T>GCA371867249VPS13Bc.6611T>G (p.Leu2204Arg)
n.6681T>G
c.*2293T>G (n.*2293T>G)
c.6536T>G (p.Leu2179Arg)
c.6608T>G (p.Leu2203Arg)
c.6533T>G (p.Leu2178Arg)
c.6233T>G (p.Leu2078Arg)
c.3497T>G (p.Leu1166Arg)
c.2390T>G (p.Leu797Arg)
c.6416T>G (p.Leu2139Arg)
c.2168T>G (p.Leu723Arg)
c.5396T>G (p.Leu1799Arg)
8g.99717253G>ACA462440252VPS13Bc.6612G>A (p.Leu2204=)
n.6682G>A
c.*2294G>A (n.*2294G>A)
c.6537G>A (p.Leu2179=)
c.6609G>A (p.Leu2203=)
c.6534G>A (p.Leu2178=)
c.6234G>A (p.Leu2078=)
c.3498G>A (p.Leu1166=)
c.2391G>A (p.Leu797=)
c.6417G>A (p.Leu2139=)
c.2169G>A (p.Leu723=)
c.5397G>A (p.Leu1799=)
 gnomAD v4 COSMIC COSMIC
8g.99717253G>CCA462440250VPS13Bc.6612G>C (p.Leu2204=)
n.6682G>C
c.*2294G>C (n.*2294G>C)
c.6537G>C (p.Leu2179=)
c.6609G>C (p.Leu2203=)
c.6534G>C (p.Leu2178=)
c.6234G>C (p.Leu2078=)
c.3498G>C (p.Leu1166=)
c.2391G>C (p.Leu797=)
c.6417G>C (p.Leu2139=)
c.2169G>C (p.Leu723=)
c.5397G>C (p.Leu1799=)
8g.99717253G>TCA462440251VPS13Bc.6612G>T (p.Leu2204=)
n.6682G>T
c.*2294G>T (n.*2294G>T)
c.6537G>T (p.Leu2179=)
c.6609G>T (p.Leu2203=)
c.6534G>T (p.Leu2178=)
c.6234G>T (p.Leu2078=)
c.3498G>T (p.Leu1166=)
c.2391G>T (p.Leu797=)
c.6417G>T (p.Leu2139=)
c.2169G>T (p.Leu723=)
c.5397G>T (p.Leu1799=)
8g.99717254A>CCA371867251VPS13Bc.6613A>C (p.Ile2205Leu)
n.6683A>C
c.*2295A>C (n.*2295A>C)
c.6538A>C (p.Ile2180Leu)
c.6610A>C (p.Ile2204Leu)
c.6535A>C (p.Ile2179Leu)
c.6235A>C (p.Ile2079Leu)
c.3499A>C (p.Ile1167Leu)
c.2392A>C (p.Ile798Leu)
c.6418A>C (p.Ile2140Leu)
c.2170A>C (p.Ile724Leu)
c.5398A>C (p.Ile1800Leu)
8g.99717254A>GCA371867252VPS13Bc.6613A>G (p.Ile2205Val)
n.6683A>G
c.*2295A>G (n.*2295A>G)
c.6538A>G (p.Ile2180Val)
c.6610A>G (p.Ile2204Val)
c.6535A>G (p.Ile2179Val)
c.6235A>G (p.Ile2079Val)
c.3499A>G (p.Ile1167Val)
c.2392A>G (p.Ile798Val)
c.6418A>G (p.Ile2140Val)
c.2170A>G (p.Ile724Val)
c.5398A>G (p.Ile1800Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99717254A>TCA371867250VPS13Bc.6613A>T (p.Ile2205Leu)
n.6683A>T
c.*2295A>T (n.*2295A>T)
c.6538A>T (p.Ile2180Leu)
c.6610A>T (p.Ile2204Leu)
c.6535A>T (p.Ile2179Leu)
c.6235A>T (p.Ile2079Leu)
c.3499A>T (p.Ile1167Leu)
c.2392A>T (p.Ile798Leu)
c.6418A>T (p.Ile2140Leu)
c.2170A>T (p.Ile724Leu)
c.5398A>T (p.Ile1800Leu)
8g.99717255T>ACA371867253VPS13Bc.6614T>A (p.Ile2205Lys)
n.6684T>A
c.*2296T>A (n.*2296T>A)
c.6539T>A (p.Ile2180Lys)
c.6611T>A (p.Ile2204Lys)
c.6536T>A (p.Ile2179Lys)
c.6236T>A (p.Ile2079Lys)
c.3500T>A (p.Ile1167Lys)
c.2393T>A (p.Ile798Lys)
c.6419T>A (p.Ile2140Lys)
c.2171T>A (p.Ile724Lys)
c.5399T>A (p.Ile1800Lys)
8g.99717255T>CCA183028980VPS13Bc.6614T>C (p.Ile2205Thr)
n.6684T>C
c.*2296T>C (n.*2296T>C)
c.6539T>C (p.Ile2180Thr)
c.6611T>C (p.Ile2204Thr)
c.6536T>C (p.Ile2179Thr)
c.6236T>C (p.Ile2079Thr)
c.3500T>C (p.Ile1167Thr)
c.2393T>C (p.Ile798Thr)
c.6419T>C (p.Ile2140Thr)
c.2171T>C (p.Ile724Thr)
c.5399T>C (p.Ile1800Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99717255T>GCA371867254VPS13Bc.6614T>G (p.Ile2205Arg)
n.6684T>G
c.*2296T>G (n.*2296T>G)
c.6539T>G (p.Ile2180Arg)
c.6611T>G (p.Ile2204Arg)
c.6536T>G (p.Ile2179Arg)
c.6236T>G (p.Ile2079Arg)
c.3500T>G (p.Ile1167Arg)
c.2393T>G (p.Ile798Arg)
c.6419T>G (p.Ile2140Arg)
c.2171T>G (p.Ile724Arg)
c.5399T>G (p.Ile1800Arg)
 ClinVar
8g.99717256A>CCA462440253VPS13Bc.6615A>C (p.Ile2205=)
n.6685A>C
c.*2297A>C (n.*2297A>C)
c.6540A>C (p.Ile2180=)
c.6612A>C (p.Ile2204=)
c.6537A>C (p.Ile2179=)
c.6237A>C (p.Ile2079=)
c.3501A>C (p.Ile1167=)
c.2394A>C (p.Ile798=)
c.6420A>C (p.Ile2140=)
c.2172A>C (p.Ile724=)
c.5400A>C (p.Ile1800=)
8g.99717256A>GCA371867255VPS13Bc.6615A>G (p.Ile2205Met)
n.6685A>G
c.*2297A>G (n.*2297A>G)
c.6540A>G (p.Ile2180Met)
c.6612A>G (p.Ile2204Met)
c.6537A>G (p.Ile2179Met)
c.6237A>G (p.Ile2079Met)
c.3501A>G (p.Ile1167Met)
c.2394A>G (p.Ile798Met)
c.6420A>G (p.Ile2140Met)
c.2172A>G (p.Ile724Met)
c.5400A>G (p.Ile1800Met)
 gnomAD v4
8g.99717256A>TCA462440254VPS13Bc.6615A>T (p.Ile2205=)
n.6685A>T
c.*2297A>T (n.*2297A>T)
c.6540A>T (p.Ile2180=)
c.6612A>T (p.Ile2204=)
c.6537A>T (p.Ile2179=)
c.6237A>T (p.Ile2079=)
c.3501A>T (p.Ile1167=)
c.2394A>T (p.Ile798=)
c.6420A>T (p.Ile2140=)
c.2172A>T (p.Ile724=)
c.5400A>T (p.Ile1800=)
8g.99717257G>ACA371867256VPS13Bc.6616G>A (p.Gly2206Arg)
n.6686G>A
c.*2298G>A (n.*2298G>A)
c.6541G>A (p.Gly2181Arg)
c.6613G>A (p.Gly2205Arg)
c.6538G>A (p.Gly2180Arg)
c.6238G>A (p.Gly2080Arg)
c.3502G>A (p.Gly1168Arg)
c.2395G>A (p.Gly799Arg)
c.6421G>A (p.Gly2141Arg)
c.2173G>A (p.Gly725Arg)
c.5401G>A (p.Gly1801Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99717257G>CCA371867257VPS13Bc.6616G>C (p.Gly2206Arg)
n.6686G>C
c.*2298G>C (n.*2298G>C)
c.6541G>C (p.Gly2181Arg)
c.6613G>C (p.Gly2205Arg)
c.6538G>C (p.Gly2180Arg)
c.6238G>C (p.Gly2080Arg)
c.3502G>C (p.Gly1168Arg)
c.2395G>C (p.Gly799Arg)
c.6421G>C (p.Gly2141Arg)
c.2173G>C (p.Gly725Arg)
c.5401G>C (p.Gly1801Arg)
8g.99717257G>TCA371867258VPS13Bc.6616G>T (p.Gly2206Ter)
n.6686G>T
c.*2298G>T (n.*2298G>T)
c.6541G>T (p.Gly2181Ter)
c.6613G>T (p.Gly2205Ter)
c.6538G>T (p.Gly2180Ter)
c.6238G>T (p.Gly2080Ter)
c.3502G>T (p.Gly1168Ter)
c.2395G>T (p.Gly799Ter)
c.6421G>T (p.Gly2141Ter)
c.2173G>T (p.Gly725Ter)
c.5401G>T (p.Gly1801Ter)
8g.99717258G>ACA371867259VPS13Bc.6617G>A (p.Gly2206Glu)
n.6687G>A
c.*2299G>A (n.*2299G>A)
c.6542G>A (p.Gly2181Glu)
c.6614G>A (p.Gly2205Glu)
c.6539G>A (p.Gly2180Glu)
c.6239G>A (p.Gly2080Glu)
c.3503G>A (p.Gly1168Glu)
c.2396G>A (p.Gly799Glu)
c.6422G>A (p.Gly2141Glu)
c.2174G>A (p.Gly725Glu)
c.5402G>A (p.Gly1801Glu)
 ClinVar
8g.99717258G>CCA371867260VPS13Bc.6617G>C (p.Gly2206Ala)
n.6687G>C
c.*2299G>C (n.*2299G>C)
c.6542G>C (p.Gly2181Ala)
c.6614G>C (p.Gly2205Ala)
c.6539G>C (p.Gly2180Ala)
c.6239G>C (p.Gly2080Ala)
c.3503G>C (p.Gly1168Ala)
c.2396G>C (p.Gly799Ala)
c.6422G>C (p.Gly2141Ala)
c.2174G>C (p.Gly725Ala)
c.5402G>C (p.Gly1801Ala)
8g.99717258G>TCA371867261VPS13Bc.6617G>T (p.Gly2206Val)
n.6687G>T
c.*2299G>T (n.*2299G>T)
c.6542G>T (p.Gly2181Val)
c.6614G>T (p.Gly2205Val)
c.6539G>T (p.Gly2180Val)
c.6239G>T (p.Gly2080Val)
c.3503G>T (p.Gly1168Val)
c.2396G>T (p.Gly799Val)
c.6422G>T (p.Gly2141Val)
c.2174G>T (p.Gly725Val)
c.5402G>T (p.Gly1801Val)
8g.99717259A>CCA462440255VPS13Bc.6618A>C (p.Gly2206=)
n.6688A>C
c.*2300A>C (n.*2300A>C)
c.6543A>C (p.Gly2181=)
c.6615A>C (p.Gly2205=)
c.6540A>C (p.Gly2180=)
c.6240A>C (p.Gly2080=)
c.3504A>C (p.Gly1168=)
c.2397A>C (p.Gly799=)
c.6423A>C (p.Gly2141=)
c.2175A>C (p.Gly725=)
c.5403A>C (p.Gly1801=)
8g.99717259A>GCA183028984VPS13Bc.6618A>G (p.Gly2206=)
n.6688A>G
c.*2300A>G (n.*2300A>G)
c.6543A>G (p.Gly2181=)
c.6615A>G (p.Gly2205=)
c.6540A>G (p.Gly2180=)
c.6240A>G (p.Gly2080=)
c.3504A>G (p.Gly1168=)
c.2397A>G (p.Gly799=)
c.6423A>G (p.Gly2141=)
c.2175A>G (p.Gly725=)
c.5403A>G (p.Gly1801=)
 dbSNP
8g.99717259A>TCA4824024VPS13Bc.6618A>T (p.Gly2206=)
n.6688A>T
c.*2300A>T (n.*2300A>T)
c.6543A>T (p.Gly2181=)
c.6615A>T (p.Gly2205=)
c.6540A>T (p.Gly2180=)
c.6240A>T (p.Gly2080=)
c.3504A>T (p.Gly1168=)
c.2397A>T (p.Gly799=)
c.6423A>T (p.Gly2141=)
c.2175A>T (p.Gly725=)
c.5403A>T (p.Gly1801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717260C>ACA4824025VPS13Bc.6619C>A (p.Pro2207Thr)
n.6689C>A
c.*2301C>A (n.*2301C>A)
c.6544C>A (p.Pro2182Thr)
c.6616C>A (p.Pro2206Thr)
c.6541C>A (p.Pro2181Thr)
c.6241C>A (p.Pro2081Thr)
c.3505C>A (p.Pro1169Thr)
c.2398C>A (p.Pro800Thr)
c.6424C>A (p.Pro2142Thr)
c.2176C>A (p.Pro726Thr)
c.5404C>A (p.Pro1802Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717260C>GCA371867263VPS13Bc.6619C>G (p.Pro2207Ala)
n.6689C>G
c.*2301C>G (n.*2301C>G)
c.6544C>G (p.Pro2182Ala)
c.6616C>G (p.Pro2206Ala)
c.6541C>G (p.Pro2181Ala)
c.6241C>G (p.Pro2081Ala)
c.3505C>G (p.Pro1169Ala)
c.2398C>G (p.Pro800Ala)
c.6424C>G (p.Pro2142Ala)
c.2176C>G (p.Pro726Ala)
c.5404C>G (p.Pro1802Ala)
8g.99717260C>TCA371867262VPS13Bc.6619C>T (p.Pro2207Ser)
n.6689C>T
c.*2301C>T (n.*2301C>T)
c.6544C>T (p.Pro2182Ser)
c.6616C>T (p.Pro2206Ser)
c.6541C>T (p.Pro2181Ser)
c.6241C>T (p.Pro2081Ser)
c.3505C>T (p.Pro1169Ser)
c.2398C>T (p.Pro800Ser)
c.6424C>T (p.Pro2142Ser)
c.2176C>T (p.Pro726Ser)
c.5404C>T (p.Pro1802Ser)
 ClinVar dbSNP
8g.99717261C>ACA371867264VPS13Bc.6620C>A (p.Pro2207Gln)
n.6690C>A
c.*2302C>A (n.*2302C>A)
c.6545C>A (p.Pro2182Gln)
c.6617C>A (p.Pro2206Gln)
c.6542C>A (p.Pro2181Gln)
c.6242C>A (p.Pro2081Gln)
c.3506C>A (p.Pro1169Gln)
c.2399C>A (p.Pro800Gln)
c.6425C>A (p.Pro2142Gln)
c.2177C>A (p.Pro726Gln)
c.5405C>A (p.Pro1802Gln)
8g.99717261C>GCA371867265VPS13Bc.6620C>G (p.Pro2207Arg)
n.6690C>G
c.*2302C>G (n.*2302C>G)
c.6545C>G (p.Pro2182Arg)
c.6617C>G (p.Pro2206Arg)
c.6542C>G (p.Pro2181Arg)
c.6242C>G (p.Pro2081Arg)
c.3506C>G (p.Pro1169Arg)
c.2399C>G (p.Pro800Arg)
c.6425C>G (p.Pro2142Arg)
c.2177C>G (p.Pro726Arg)
c.5405C>G (p.Pro1802Arg)
8g.99717261C>TCA371867266VPS13Bc.6620C>T (p.Pro2207Leu)
n.6690C>T
c.*2302C>T (n.*2302C>T)
c.6545C>T (p.Pro2182Leu)
c.6617C>T (p.Pro2206Leu)
c.6542C>T (p.Pro2181Leu)
c.6242C>T (p.Pro2081Leu)
c.3506C>T (p.Pro1169Leu)
c.2399C>T (p.Pro800Leu)
c.6425C>T (p.Pro2142Leu)
c.2177C>T (p.Pro726Leu)
c.5405C>T (p.Pro1802Leu)
 gnomAD v4
8g.99717262A>CCA462440256VPS13Bc.6621A>C (p.Pro2207=)
n.6691A>C
c.*2303A>C (n.*2303A>C)
c.6546A>C (p.Pro2182=)
c.6618A>C (p.Pro2206=)
c.6543A>C (p.Pro2181=)
c.6243A>C (p.Pro2081=)
c.3507A>C (p.Pro1169=)
c.2400A>C (p.Pro800=)
c.6426A>C (p.Pro2142=)
c.2178A>C (p.Pro726=)
c.5406A>C (p.Pro1802=)
8g.99717262A>GCA4824026VPS13Bc.6621A>G (p.Pro2207=)
n.6691A>G
c.*2303A>G (n.*2303A>G)
c.6546A>G (p.Pro2182=)
c.6618A>G (p.Pro2206=)
c.6543A>G (p.Pro2181=)
c.6243A>G (p.Pro2081=)
c.3507A>G (p.Pro1169=)
c.2400A>G (p.Pro800=)
c.6426A>G (p.Pro2142=)
c.2178A>G (p.Pro726=)
c.5406A>G (p.Pro1802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99717262A>TCA462440257VPS13Bc.6621A>T (p.Pro2207=)
n.6691A>T
c.*2303A>T (n.*2303A>T)
c.6546A>T (p.Pro2182=)
c.6618A>T (p.Pro2206=)
c.6543A>T (p.Pro2181=)
c.6243A>T (p.Pro2081=)
c.3507A>T (p.Pro1169=)
c.2400A>T (p.Pro800=)
c.6426A>T (p.Pro2142=)
c.2178A>T (p.Pro726=)
c.5406A>T (p.Pro1802=)
8g.99717263T>ACA371867267VPS13Bc.6622T>A (p.Cys2208Ser)
n.6692T>A
c.*2304T>A (n.*2304T>A)
c.6547T>A (p.Cys2183Ser)
c.6619T>A (p.Cys2207Ser)
c.6544T>A (p.Cys2182Ser)
c.6244T>A (p.Cys2082Ser)
c.3508T>A (p.Cys1170Ser)
c.2401T>A (p.Cys801Ser)
c.6427T>A (p.Cys2143Ser)
c.2179T>A (p.Cys727Ser)
c.5407T>A (p.Cys1803Ser)
8g.99717263T>CCA371867268VPS13Bc.6622T>C (p.Cys2208Arg)
n.6692T>C
c.*2304T>C (n.*2304T>C)
c.6547T>C (p.Cys2183Arg)
c.6619T>C (p.Cys2207Arg)
c.6544T>C (p.Cys2182Arg)
c.6244T>C (p.Cys2082Arg)
c.3508T>C (p.Cys1170Arg)
c.2401T>C (p.Cys801Arg)
c.6427T>C (p.Cys2143Arg)
c.2179T>C (p.Cys727Arg)
c.5407T>C (p.Cys1803Arg)
8g.99717263T>GCA371867269VPS13Bc.6622T>G (p.Cys2208Gly)
n.6692T>G
c.*2304T>G (n.*2304T>G)
c.6547T>G (p.Cys2183Gly)
c.6619T>G (p.Cys2207Gly)
c.6544T>G (p.Cys2182Gly)
c.6244T>G (p.Cys2082Gly)
c.3508T>G (p.Cys1170Gly)
c.2401T>G (p.Cys801Gly)
c.6427T>G (p.Cys2143Gly)
c.2179T>G (p.Cys727Gly)
c.5407T>G (p.Cys1803Gly)
8g.99717264G>ACA371867270VPS13Bc.6623G>A (p.Cys2208Tyr)
n.6693G>A
c.*2305G>A (n.*2305G>A)
c.6548G>A (p.Cys2183Tyr)
c.6620G>A (p.Cys2207Tyr)
c.6545G>A (p.Cys2182Tyr)
c.6245G>A (p.Cys2082Tyr)
c.3509G>A (p.Cys1170Tyr)
c.2402G>A (p.Cys801Tyr)
c.6428G>A (p.Cys2143Tyr)
c.2180G>A (p.Cys727Tyr)
c.5408G>A (p.Cys1803Tyr)
 dbSNP gnomAD v4
8g.99717264G>CCA371867272VPS13Bc.6623G>C (p.Cys2208Ser)
n.6693G>C
c.*2305G>C (n.*2305G>C)
c.6548G>C (p.Cys2183Ser)
c.6620G>C (p.Cys2207Ser)
c.6545G>C (p.Cys2182Ser)
c.6245G>C (p.Cys2082Ser)
c.3509G>C (p.Cys1170Ser)
c.2402G>C (p.Cys801Ser)
c.6428G>C (p.Cys2143Ser)
c.2180G>C (p.Cys727Ser)
c.5408G>C (p.Cys1803Ser)
 gnomAD v4
8g.99717264G>TCA371867271VPS13Bc.6623G>T (p.Cys2208Phe)
n.6693G>T
c.*2305G>T (n.*2305G>T)
c.6548G>T (p.Cys2183Phe)
c.6620G>T (p.Cys2207Phe)
c.6545G>T (p.Cys2182Phe)
c.6245G>T (p.Cys2082Phe)
c.3509G>T (p.Cys1170Phe)
c.2402G>T (p.Cys801Phe)
c.6428G>T (p.Cys2143Phe)
c.2180G>T (p.Cys727Phe)
c.5408G>T (p.Cys1803Phe)
 gnomAD v4
8g.99717265T>ACA371867273VPS13Bc.6624T>A (p.Cys2208Ter)
n.6694T>A
c.*2306T>A (n.*2306T>A)
c.6549T>A (p.Cys2183Ter)
c.6621T>A (p.Cys2207Ter)
c.6546T>A (p.Cys2182Ter)
c.6246T>A (p.Cys2082Ter)
c.3510T>A (p.Cys1170Ter)
c.2403T>A (p.Cys801Ter)
c.6429T>A (p.Cys2143Ter)
c.2181T>A (p.Cys727Ter)
c.5409T>A (p.Cys1803Ter)
8g.99717265T>CCA462440258VPS13Bc.6624T>C (p.Cys2208=)
n.6694T>C
c.*2306T>C (n.*2306T>C)
c.6549T>C (p.Cys2183=)
c.6621T>C (p.Cys2207=)
c.6546T>C (p.Cys2182=)
c.6246T>C (p.Cys2082=)
c.3510T>C (p.Cys1170=)
c.2403T>C (p.Cys801=)
c.6429T>C (p.Cys2143=)
c.2181T>C (p.Cys727=)
c.5409T>C (p.Cys1803=)
8g.99717265T>GCA371867274VPS13Bc.6624T>G (p.Cys2208Trp)
n.6694T>G
c.*2306T>G (n.*2306T>G)
c.6549T>G (p.Cys2183Trp)
c.6621T>G (p.Cys2207Trp)
c.6546T>G (p.Cys2182Trp)
c.6246T>G (p.Cys2082Trp)
c.3510T>G (p.Cys1170Trp)
c.2403T>G (p.Cys801Trp)
c.6429T>G (p.Cys2143Trp)
c.2181T>G (p.Cys727Trp)
c.5409T>G (p.Cys1803Trp)
 dbSNP gnomAD v4
8g.99717266T>ACA371867275VPS13Bc.6625T>A (p.Cys2209Ser)
n.6695T>A
c.*2307T>A (n.*2307T>A)
c.6550T>A (p.Cys2184Ser)
c.6622T>A (p.Cys2208Ser)
c.6547T>A (p.Cys2183Ser)
c.6247T>A (p.Cys2083Ser)
c.3511T>A (p.Cys1171Ser)
c.2404T>A (p.Cys802Ser)
c.6430T>A (p.Cys2144Ser)
c.2182T>A (p.Cys728Ser)
c.5410T>A (p.Cys1804Ser)
8g.99717266T>CCA371867276VPS13Bc.6625T>C (p.Cys2209Arg)
n.6695T>C
c.*2307T>C (n.*2307T>C)
c.6550T>C (p.Cys2184Arg)
c.6622T>C (p.Cys2208Arg)
c.6547T>C (p.Cys2183Arg)
c.6247T>C (p.Cys2083Arg)
c.3511T>C (p.Cys1171Arg)
c.2404T>C (p.Cys802Arg)
c.6430T>C (p.Cys2144Arg)
c.2182T>C (p.Cys728Arg)
c.5410T>C (p.Cys1804Arg)
8g.99717266T>GCA371867277VPS13Bc.6625T>G (p.Cys2209Gly)
n.6695T>G
c.*2307T>G (n.*2307T>G)
c.6550T>G (p.Cys2184Gly)
c.6622T>G (p.Cys2208Gly)
c.6547T>G (p.Cys2183Gly)
c.6247T>G (p.Cys2083Gly)
c.3511T>G (p.Cys1171Gly)
c.2404T>G (p.Cys802Gly)
c.6430T>G (p.Cys2144Gly)
c.2182T>G (p.Cys728Gly)
c.5410T>G (p.Cys1804Gly)
8g.99717267G>ACA371867279VPS13Bc.6626G>A (p.Cys2209Tyr)
n.6696G>A
c.*2308G>A (n.*2308G>A)
c.6551G>A (p.Cys2184Tyr)
c.6623G>A (p.Cys2208Tyr)
c.6548G>A (p.Cys2183Tyr)
c.6248G>A (p.Cys2083Tyr)
c.3512G>A (p.Cys1171Tyr)
c.2405G>A (p.Cys802Tyr)
c.6431G>A (p.Cys2144Tyr)
c.2183G>A (p.Cys728Tyr)
c.5411G>A (p.Cys1804Tyr)
8g.99717267G>CCA371867280VPS13Bc.6626G>C (p.Cys2209Ser)
n.6696G>C
c.*2308G>C (n.*2308G>C)
c.6551G>C (p.Cys2184Ser)
c.6623G>C (p.Cys2208Ser)
c.6548G>C (p.Cys2183Ser)
c.6248G>C (p.Cys2083Ser)
c.3512G>C (p.Cys1171Ser)
c.2405G>C (p.Cys802Ser)
c.6431G>C (p.Cys2144Ser)
c.2183G>C (p.Cys728Ser)
c.5411G>C (p.Cys1804Ser)
8g.99717267G>TCA371867278VPS13Bc.6626G>T (p.Cys2209Phe)
n.6696G>T
c.*2308G>T (n.*2308G>T)
c.6551G>T (p.Cys2184Phe)
c.6623G>T (p.Cys2208Phe)
c.6548G>T (p.Cys2183Phe)
c.6248G>T (p.Cys2083Phe)
c.3512G>T (p.Cys1171Phe)
c.2405G>T (p.Cys802Phe)
c.6431G>T (p.Cys2144Phe)
c.2183G>T (p.Cys728Phe)
c.5411G>T (p.Cys1804Phe)
8g.99717268T>ACA371867282VPS13Bc.6627T>A (p.Cys2209Ter)
n.6697T>A
c.*2309T>A (n.*2309T>A)
c.6552T>A (p.Cys2184Ter)
c.6624T>A (p.Cys2208Ter)
c.6549T>A (p.Cys2183Ter)
c.6249T>A (p.Cys2083Ter)
c.3513T>A (p.Cys1171Ter)
c.2406T>A (p.Cys802Ter)
c.6432T>A (p.Cys2144Ter)
c.2184T>A (p.Cys728Ter)
c.5412T>A (p.Cys1804Ter)
 ClinVar
8g.99717268T>CCA462440259VPS13Bc.6627T>C (p.Cys2209=)
n.6697T>C
c.*2309T>C (n.*2309T>C)
c.6552T>C (p.Cys2184=)
c.6624T>C (p.Cys2208=)
c.6549T>C (p.Cys2183=)
c.6249T>C (p.Cys2083=)
c.3513T>C (p.Cys1171=)
c.2406T>C (p.Cys802=)
c.6432T>C (p.Cys2144=)
c.2184T>C (p.Cys728=)
c.5412T>C (p.Cys1804=)
 ClinVar
8g.99717268T>GCA371867281VPS13Bc.6627T>G (p.Cys2209Trp)
n.6697T>G
c.*2309T>G (n.*2309T>G)
c.6552T>G (p.Cys2184Trp)
c.6624T>G (p.Cys2208Trp)
c.6549T>G (p.Cys2183Trp)
c.6249T>G (p.Cys2083Trp)
c.3513T>G (p.Cys1171Trp)
c.2406T>G (p.Cys802Trp)
c.6432T>G (p.Cys2144Trp)
c.2184T>G (p.Cys728Trp)
c.5412T>G (p.Cys1804Trp)
8g.99717268dupCA2580079139VPS13Bc.6627dup (p.Ala2210CysfsTer8)
n.6697dup
c.*2309dup (n.*2309dup)
c.6552dup (p.Ala2185CysfsTer8)
c.6624dup (p.Ala2209CysfsTer8)
c.6549dup (p.Ala2184CysfsTer8)
c.6249dup (p.Ala2084CysfsTer8)
c.3513dup (p.Ala1172CysfsTer8)
c.2406dup (p.Ala803CysfsTer8)
c.6432dup (p.Ala2145CysfsTer8)
c.2184dup (p.Ala729CysfsTer8)
c.5412dup (p.Ala1805CysfsTer8)
 ClinVar
8g.99717269G>ACA371867283VPS13Bc.6628G>A (p.Ala2210Thr)
n.6698G>A
c.*2310G>A (n.*2310G>A)
c.6553G>A (p.Ala2185Thr)
c.6625G>A (p.Ala2209Thr)
c.6550G>A (p.Ala2184Thr)
c.6250G>A (p.Ala2084Thr)
c.3514G>A (p.Ala1172Thr)
c.2407G>A (p.Ala803Thr)
c.6433G>A (p.Ala2145Thr)
c.2185G>A (p.Ala729Thr)
c.5413G>A (p.Ala1805Thr)
 gnomAD v4
8g.99717269G>CCA371867284VPS13Bc.6628G>C (p.Ala2210Pro)
n.6698G>C
c.*2310G>C (n.*2310G>C)
c.6553G>C (p.Ala2185Pro)
c.6625G>C (p.Ala2209Pro)
c.6550G>C (p.Ala2184Pro)
c.6250G>C (p.Ala2084Pro)
c.3514G>C (p.Ala1172Pro)
c.2407G>C (p.Ala803Pro)
c.6433G>C (p.Ala2145Pro)
c.2185G>C (p.Ala729Pro)
c.5413G>C (p.Ala1805Pro)
8g.99717269G>TCA371867285VPS13Bc.6628G>T (p.Ala2210Ser)
n.6698G>T
c.*2310G>T (n.*2310G>T)
c.6553G>T (p.Ala2185Ser)
c.6625G>T (p.Ala2209Ser)
c.6550G>T (p.Ala2184Ser)
c.6250G>T (p.Ala2084Ser)
c.3514G>T (p.Ala1172Ser)
c.2407G>T (p.Ala803Ser)
c.6433G>T (p.Ala2145Ser)
c.2185G>T (p.Ala729Ser)
c.5413G>T (p.Ala1805Ser)
8g.99717270C>ACA371867286VPS13Bc.6629C>A (p.Ala2210Asp)
n.6699C>A
c.*2311C>A (n.*2311C>A)
c.6554C>A (p.Ala2185Asp)
c.6626C>A (p.Ala2209Asp)
c.6551C>A (p.Ala2184Asp)
c.6251C>A (p.Ala2084Asp)
c.3515C>A (p.Ala1172Asp)
c.2408C>A (p.Ala803Asp)
c.6434C>A (p.Ala2145Asp)
c.2186C>A (p.Ala729Asp)
c.5414C>A (p.Ala1805Asp)
8g.99717270C>GCA371867287VPS13Bc.6629C>G (p.Ala2210Gly)
n.6699C>G
c.*2311C>G (n.*2311C>G)
c.6554C>G (p.Ala2185Gly)
c.6626C>G (p.Ala2209Gly)
c.6551C>G (p.Ala2184Gly)
c.6251C>G (p.Ala2084Gly)
c.3515C>G (p.Ala1172Gly)
c.2408C>G (p.Ala803Gly)
c.6434C>G (p.Ala2145Gly)
c.2186C>G (p.Ala729Gly)
c.5414C>G (p.Ala1805Gly)
8g.99717270C>TCA371867288VPS13Bc.6629C>T (p.Ala2210Val)
n.6699C>T
c.*2311C>T (n.*2311C>T)
c.6554C>T (p.Ala2185Val)
c.6626C>T (p.Ala2209Val)
c.6551C>T (p.Ala2184Val)
c.6251C>T (p.Ala2084Val)
c.3515C>T (p.Ala1172Val)
c.2408C>T (p.Ala803Val)
c.6434C>T (p.Ala2145Val)
c.2186C>T (p.Ala729Val)
c.5414C>T (p.Ala1805Val)
8g.99717271T>ACA462440260VPS13Bc.6630T>A (p.Ala2210=)
n.6700T>A
c.*2312T>A (n.*2312T>A)
c.6555T>A (p.Ala2185=)
c.6627T>A (p.Ala2209=)
c.6552T>A (p.Ala2184=)
c.6252T>A (p.Ala2084=)
c.3516T>A (p.Ala1172=)
c.2409T>A (p.Ala803=)
c.6435T>A (p.Ala2145=)
c.2187T>A (p.Ala729=)
c.5415T>A (p.Ala1805=)
8g.99717271T>CCA462440261VPS13Bc.6630T>C (p.Ala2210=)
n.6700T>C
c.*2312T>C (n.*2312T>C)
c.6555T>C (p.Ala2185=)
c.6627T>C (p.Ala2209=)
c.6552T>C (p.Ala2184=)
c.6252T>C (p.Ala2084=)
c.3516T>C (p.Ala1172=)
c.2409T>C (p.Ala803=)
c.6435T>C (p.Ala2145=)
c.2187T>C (p.Ala729=)
c.5415T>C (p.Ala1805=)
 dbSNP
8g.99717271T>GCA462440262VPS13Bc.6630T>G (p.Ala2210=)
n.6700T>G
c.*2312T>G (n.*2312T>G)
c.6555T>G (p.Ala2185=)
c.6627T>G (p.Ala2209=)
c.6552T>G (p.Ala2184=)
c.6252T>G (p.Ala2084=)
c.3516T>G (p.Ala1172=)
c.2409T>G (p.Ala803=)
c.6435T>G (p.Ala2145=)
c.2187T>G (p.Ala729=)
c.5415T>G (p.Ala1805=)
8g.99717272A>CCA371867289VPS13Bc.6631A>C (p.Thr2211Pro)
n.6701A>C
c.*2313A>C (n.*2313A>C)
c.6556A>C (p.Thr2186Pro)
c.6628A>C (p.Thr2210Pro)
c.6553A>C (p.Thr2185Pro)
c.6253A>C (p.Thr2085Pro)
c.3517A>C (p.Thr1173Pro)
c.2410A>C (p.Thr804Pro)
c.6436A>C (p.Thr2146Pro)
c.2188A>C (p.Thr730Pro)
c.5416A>C (p.Thr1806Pro)
8g.99717272A>GCA4824027VPS13Bc.6631A>G (p.Thr2211Ala)
n.6701A>G
c.*2313A>G (n.*2313A>G)
c.6556A>G (p.Thr2186Ala)
c.6628A>G (p.Thr2210Ala)
c.6553A>G (p.Thr2185Ala)
c.6253A>G (p.Thr2085Ala)
c.3517A>G (p.Thr1173Ala)
c.2410A>G (p.Thr804Ala)
c.6436A>G (p.Thr2146Ala)
c.2188A>G (p.Thr730Ala)
c.5416A>G (p.Thr1806Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99717272A>TCA371867290VPS13Bc.6631A>T (p.Thr2211Ser)
n.6701A>T
c.*2313A>T (n.*2313A>T)
c.6556A>T (p.Thr2186Ser)
c.6628A>T (p.Thr2210Ser)
c.6553A>T (p.Thr2185Ser)
c.6253A>T (p.Thr2085Ser)
c.3517A>T (p.Thr1173Ser)
c.2410A>T (p.Thr804Ser)
c.6436A>T (p.Thr2146Ser)
c.2188A>T (p.Thr730Ser)
c.5416A>T (p.Thr1806Ser)
 gnomAD v4
8g.99717273C>ACA371867291VPS13Bc.6632C>A (p.Thr2211Asn)
n.6702C>A
c.*2314C>A (n.*2314C>A)
c.6557C>A (p.Thr2186Asn)
c.6629C>A (p.Thr2210Asn)
c.6554C>A (p.Thr2185Asn)
c.6254C>A (p.Thr2085Asn)
c.3518C>A (p.Thr1173Asn)
c.2411C>A (p.Thr804Asn)
c.6437C>A (p.Thr2146Asn)
c.2189C>A (p.Thr730Asn)
c.5417C>A (p.Thr1806Asn)
8g.99717273C>GCA371867292VPS13Bc.6632C>G (p.Thr2211Ser)
n.6702C>G
c.*2314C>G (n.*2314C>G)
c.6557C>G (p.Thr2186Ser)
c.6629C>G (p.Thr2210Ser)
c.6554C>G (p.Thr2185Ser)
c.6254C>G (p.Thr2085Ser)
c.3518C>G (p.Thr1173Ser)
c.2411C>G (p.Thr804Ser)
c.6437C>G (p.Thr2146Ser)
c.2189C>G (p.Thr730Ser)
c.5417C>G (p.Thr1806Ser)
8g.99717273C>TCA371867293VPS13Bc.6632C>T (p.Thr2211Ile)
n.6702C>T
c.*2314C>T (n.*2314C>T)
c.6557C>T (p.Thr2186Ile)
c.6629C>T (p.Thr2210Ile)
c.6554C>T (p.Thr2185Ile)
c.6254C>T (p.Thr2085Ile)
c.3518C>T (p.Thr1173Ile)
c.2411C>T (p.Thr804Ile)
c.6437C>T (p.Thr2146Ile)
c.2189C>T (p.Thr730Ile)
c.5417C>T (p.Thr1806Ile)
8g.99717274T>ACA462440263VPS13Bc.6633T>A (p.Thr2211=)
n.6703T>A
c.*2315T>A (n.*2315T>A)
c.6558T>A (p.Thr2186=)
c.6630T>A (p.Thr2210=)
c.6555T>A (p.Thr2185=)
c.6255T>A (p.Thr2085=)
c.3519T>A (p.Thr1173=)
c.2412T>A (p.Thr804=)
c.6438T>A (p.Thr2146=)
c.2190T>A (p.Thr730=)
c.5418T>A (p.Thr1806=)
8g.99717274T>CCA462440264VPS13Bc.6633T>C (p.Thr2211=)
n.6703T>C
c.*2315T>C (n.*2315T>C)
c.6558T>C (p.Thr2186=)
c.6630T>C (p.Thr2210=)
c.6555T>C (p.Thr2185=)
c.6255T>C (p.Thr2085=)
c.3519T>C (p.Thr1173=)
c.2412T>C (p.Thr804=)
c.6438T>C (p.Thr2146=)
c.2190T>C (p.Thr730=)
c.5418T>C (p.Thr1806=)
 COSMIC COSMIC
8g.99717274T>GCA4824028VPS13Bc.6633T>G (p.Thr2211=)
n.6703T>G
c.*2315T>G (n.*2315T>G)
c.6558T>G (p.Thr2186=)
c.6630T>G (p.Thr2210=)
c.6555T>G (p.Thr2185=)
c.6255T>G (p.Thr2085=)
c.3519T>G (p.Thr1173=)
c.2412T>G (p.Thr804=)
c.6438T>G (p.Thr2146=)
c.2190T>G (p.Thr730=)
c.5418T>G (p.Thr1806=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.99717275G>ACA371867296VPS13Bc.6634G>A (p.Ala2212Thr)
n.6704G>A
c.*2316G>A (n.*2316G>A)
c.6559G>A (p.Ala2187Thr)
c.6631G>A (p.Ala2211Thr)
c.6556G>A (p.Ala2186Thr)
c.6256G>A (p.Ala2086Thr)
c.3520G>A (p.Ala1174Thr)
c.2413G>A (p.Ala805Thr)
c.6439G>A (p.Ala2147Thr)
c.2191G>A (p.Ala731Thr)
c.5419G>A (p.Ala1807Thr)
 gnomAD v4
8g.99717275G>CCA371867295VPS13Bc.6634G>C (p.Ala2212Pro)
n.6704G>C
c.*2316G>C (n.*2316G>C)
c.6559G>C (p.Ala2187Pro)
c.6631G>C (p.Ala2211Pro)
c.6556G>C (p.Ala2186Pro)
c.6256G>C (p.Ala2086Pro)
c.3520G>C (p.Ala1174Pro)
c.2413G>C (p.Ala805Pro)
c.6439G>C (p.Ala2147Pro)
c.2191G>C (p.Ala731Pro)
c.5419G>C (p.Ala1807Pro)
8g.99717275G>TCA371867294VPS13Bc.6634G>T (p.Ala2212Ser)
n.6704G>T
c.*2316G>T (n.*2316G>T)
c.6559G>T (p.Ala2187Ser)
c.6631G>T (p.Ala2211Ser)
c.6556G>T (p.Ala2186Ser)
c.6256G>T (p.Ala2086Ser)
c.3520G>T (p.Ala1174Ser)
c.2413G>T (p.Ala805Ser)
c.6439G>T (p.Ala2147Ser)
c.2191G>T (p.Ala731Ser)
c.5419G>T (p.Ala1807Ser)
8g.99717276C>ACA371867297VPS13Bc.6635C>A (p.Ala2212Asp)
n.6705C>A
c.*2317C>A (n.*2317C>A)
c.6560C>A (p.Ala2187Asp)
c.6632C>A (p.Ala2211Asp)
c.6557C>A (p.Ala2186Asp)
c.6257C>A (p.Ala2086Asp)
c.3521C>A (p.Ala1174Asp)
c.2414C>A (p.Ala805Asp)
c.6440C>A (p.Ala2147Asp)
c.2192C>A (p.Ala731Asp)
c.5420C>A (p.Ala1807Asp)
8g.99717276C>GCA371867298VPS13Bc.6635C>G (p.Ala2212Gly)
n.6705C>G
c.*2317C>G (n.*2317C>G)
c.6560C>G (p.Ala2187Gly)
c.6632C>G (p.Ala2211Gly)
c.6557C>G (p.Ala2186Gly)
c.6257C>G (p.Ala2086Gly)
c.3521C>G (p.Ala1174Gly)
c.2414C>G (p.Ala805Gly)
c.6440C>G (p.Ala2147Gly)
c.2192C>G (p.Ala731Gly)
c.5420C>G (p.Ala1807Gly)
8g.99717276C>TCA371867299VPS13Bc.6635C>T (p.Ala2212Val)
n.6705C>T
c.*2317C>T (n.*2317C>T)
c.6560C>T (p.Ala2187Val)
c.6632C>T (p.Ala2211Val)
c.6557C>T (p.Ala2186Val)
c.6257C>T (p.Ala2086Val)
c.3521C>T (p.Ala1174Val)
c.2414C>T (p.Ala805Val)
c.6440C>T (p.Ala2147Val)
c.2192C>T (p.Ala731Val)
c.5420C>T (p.Ala1807Val)
 ClinVar COSMIC COSMIC
8g.99717277C>ACA462440265VPS13Bc.6636C>A (p.Ala2212=)
n.6706C>A
c.*2318C>A (n.*2318C>A)
c.6561C>A (p.Ala2187=)
c.6633C>A (p.Ala2211=)
c.6558C>A (p.Ala2186=)
c.6258C>A (p.Ala2086=)
c.3522C>A (p.Ala1174=)
c.2415C>A (p.Ala805=)
c.6441C>A (p.Ala2147=)
c.2193C>A (p.Ala731=)
c.5421C>A (p.Ala1807=)
8g.99717277C>GCA462440266VPS13Bc.6636C>G (p.Ala2212=)
n.6706C>G
c.*2318C>G (n.*2318C>G)
c.6561C>G (p.Ala2187=)
c.6633C>G (p.Ala2211=)
c.6558C>G (p.Ala2186=)
c.6258C>G (p.Ala2086=)
c.3522C>G (p.Ala1174=)
c.2415C>G (p.Ala805=)
c.6441C>G (p.Ala2147=)
c.2193C>G (p.Ala731=)
c.5421C>G (p.Ala1807=)
8g.99717277C>TCA462440267VPS13Bc.6636C>T (p.Ala2212=)
n.6706C>T
c.*2318C>T (n.*2318C>T)
c.6561C>T (p.Ala2187=)
c.6633C>T (p.Ala2211=)
c.6558C>T (p.Ala2186=)
c.6258C>T (p.Ala2086=)
c.3522C>T (p.Ala1174=)
c.2415C>T (p.Ala805=)
c.6441C>T (p.Ala2147=)
c.2193C>T (p.Ala731=)
c.5421C>T (p.Ala1807=)
8g.99717278A>CCA371867300VPS13Bc.6637A>C (p.Asn2213His)
n.6707A>C
c.*2319A>C (n.*2319A>C)
c.6562A>C (p.Asn2188His)
c.6634A>C (p.Asn2212His)
c.6559A>C (p.Asn2187His)
c.6259A>C (p.Asn2087His)
c.3523A>C (p.Asn1175His)
c.2416A>C (p.Asn806His)
c.6442A>C (p.Asn2148His)
c.2194A>C (p.Asn732His)
c.5422A>C (p.Asn1808His)
8g.99717278A>GCA371867301VPS13Bc.6637A>G (p.Asn2213Asp)
n.6707A>G
c.*2319A>G (n.*2319A>G)
c.6562A>G (p.Asn2188Asp)
c.6634A>G (p.Asn2212Asp)
c.6559A>G (p.Asn2187Asp)
c.6259A>G (p.Asn2087Asp)
c.3523A>G (p.Asn1175Asp)
c.2416A>G (p.Asn806Asp)
c.6442A>G (p.Asn2148Asp)
c.2194A>G (p.Asn732Asp)
c.5422A>G (p.Asn1808Asp)
8g.99717278A>TCA371867302VPS13Bc.6637A>T (p.Asn2213Tyr)
n.6707A>T
c.*2319A>T (n.*2319A>T)
c.6562A>T (p.Asn2188Tyr)
c.6634A>T (p.Asn2212Tyr)
c.6559A>T (p.Asn2187Tyr)
c.6259A>T (p.Asn2087Tyr)
c.3523A>T (p.Asn1175Tyr)
c.2416A>T (p.Asn806Tyr)
c.6442A>T (p.Asn2148Tyr)
c.2194A>T (p.Asn732Tyr)
c.5422A>T (p.Asn1808Tyr)
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)

Number of alleles fetched