Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99868298C>ACA371791728VPS13Bc.*394C>A (n.*394C>A)
n.11370C>A
c.*6982C>A (n.*6982C>A)
c.11225C>A (p.Ala3742Asp)
c.11300C>A (p.Ala3767Asp)
n.242C>A
c.11297C>A (p.Ala3766Asp)
c.11222C>A (p.Ala3741Asp)
c.10922C>A (p.Ala3641Asp)
c.8186C>A (p.Ala2729Asp)
c.7079C>A (p.Ala2360Asp)
c.11105C>A (p.Ala3702Asp)
c.6857C>A (p.Ala2286Asp)
c.10085C>A (p.Ala3362Asp)
8g.99868298C>GCA371791730VPS13Bc.*394C>G (n.*394C>G)
n.11370C>G
c.*6982C>G (n.*6982C>G)
c.11225C>G (p.Ala3742Gly)
c.11300C>G (p.Ala3767Gly)
n.242C>G
c.11297C>G (p.Ala3766Gly)
c.11222C>G (p.Ala3741Gly)
c.10922C>G (p.Ala3641Gly)
c.8186C>G (p.Ala2729Gly)
c.7079C>G (p.Ala2360Gly)
c.11105C>G (p.Ala3702Gly)
c.6857C>G (p.Ala2286Gly)
c.10085C>G (p.Ala3362Gly)
 gnomAD v4
8g.99868298C>TCA371791731VPS13Bc.*394C>T (n.*394C>T)
n.11370C>T
c.*6982C>T (n.*6982C>T)
c.11225C>T (p.Ala3742Val)
c.11300C>T (p.Ala3767Val)
n.242C>T
c.11297C>T (p.Ala3766Val)
c.11222C>T (p.Ala3741Val)
c.10922C>T (p.Ala3641Val)
c.8186C>T (p.Ala2729Val)
c.7079C>T (p.Ala2360Val)
c.11105C>T (p.Ala3702Val)
c.6857C>T (p.Ala2286Val)
c.10085C>T (p.Ala3362Val)
8g.99868299T>ACA462339098VPS13Bc.*395T>A (n.*395T>A)
n.11371T>A
c.*6983T>A (n.*6983T>A)
c.11226T>A (p.Ala3742=)
c.11301T>A (p.Ala3767=)
n.243T>A
c.11298T>A (p.Ala3766=)
c.11223T>A (p.Ala3741=)
c.10923T>A (p.Ala3641=)
c.8187T>A (p.Ala2729=)
c.7080T>A (p.Ala2360=)
c.11106T>A (p.Ala3702=)
c.6858T>A (p.Ala2286=)
c.10086T>A (p.Ala3362=)
8g.99868299T>CCA462339099VPS13Bc.*395T>C (n.*395T>C)
n.11371T>C
c.*6983T>C (n.*6983T>C)
c.11226T>C (p.Ala3742=)
c.11301T>C (p.Ala3767=)
n.243T>C
c.11298T>C (p.Ala3766=)
c.11223T>C (p.Ala3741=)
c.10923T>C (p.Ala3641=)
c.8187T>C (p.Ala2729=)
c.7080T>C (p.Ala2360=)
c.11106T>C (p.Ala3702=)
c.6858T>C (p.Ala2286=)
c.10086T>C (p.Ala3362=)
8g.99868299T>GCA462339101VPS13Bc.*395T>G (n.*395T>G)
n.11371T>G
c.*6983T>G (n.*6983T>G)
c.11226T>G (p.Ala3742=)
c.11301T>G (p.Ala3767=)
n.243T>G
c.11298T>G (p.Ala3766=)
c.11223T>G (p.Ala3741=)
c.10923T>G (p.Ala3641=)
c.8187T>G (p.Ala2729=)
c.7080T>G (p.Ala2360=)
c.11106T>G (p.Ala3702=)
c.6858T>G (p.Ala2286=)
c.10086T>G (p.Ala3362=)
8g.99868300G>ACA4825190VPS13Bc.*396G>A (n.*396G>A)
n.11372G>A
c.*6984G>A (n.*6984G>A)
c.11227G>A (p.Gly3743Ser)
c.11302G>A (p.Gly3768Ser)
n.244G>A
c.11299G>A (p.Gly3767Ser)
c.11224G>A (p.Gly3742Ser)
c.10924G>A (p.Gly3642Ser)
c.8188G>A (p.Gly2730Ser)
c.7081G>A (p.Gly2361Ser)
c.11107G>A (p.Gly3703Ser)
c.6859G>A (p.Gly2287Ser)
c.10087G>A (p.Gly3363Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99868300G>CCA371791734VPS13Bc.*396G>C (n.*396G>C)
n.11372G>C
c.*6984G>C (n.*6984G>C)
c.11227G>C (p.Gly3743Arg)
c.11302G>C (p.Gly3768Arg)
n.244G>C
c.11299G>C (p.Gly3767Arg)
c.11224G>C (p.Gly3742Arg)
c.10924G>C (p.Gly3642Arg)
c.8188G>C (p.Gly2730Arg)
c.7081G>C (p.Gly2361Arg)
c.11107G>C (p.Gly3703Arg)
c.6859G>C (p.Gly2287Arg)
c.10087G>C (p.Gly3363Arg)
8g.99868300G>TCA371791735VPS13Bc.*396G>T (n.*396G>T)
n.11372G>T
c.*6984G>T (n.*6984G>T)
c.11227G>T (p.Gly3743Cys)
c.11302G>T (p.Gly3768Cys)
n.244G>T
c.11299G>T (p.Gly3767Cys)
c.11224G>T (p.Gly3742Cys)
c.10924G>T (p.Gly3642Cys)
c.8188G>T (p.Gly2730Cys)
c.7081G>T (p.Gly2361Cys)
c.11107G>T (p.Gly3703Cys)
c.6859G>T (p.Gly2287Cys)
c.10087G>T (p.Gly3363Cys)
8g.99868301G>ACA371791739VPS13Bc.*397G>A (n.*397G>A)
n.11373G>A
c.*6985G>A (n.*6985G>A)
c.11228G>A (p.Gly3743Asp)
c.11303G>A (p.Gly3768Asp)
n.245G>A
c.11300G>A (p.Gly3767Asp)
c.11225G>A (p.Gly3742Asp)
c.10925G>A (p.Gly3642Asp)
c.8189G>A (p.Gly2730Asp)
c.7082G>A (p.Gly2361Asp)
c.11108G>A (p.Gly3703Asp)
c.6860G>A (p.Gly2287Asp)
c.10088G>A (p.Gly3363Asp)
8g.99868301G>CCA4825191VPS13Bc.*397G>C (n.*397G>C)
n.11373G>C
c.*6985G>C (n.*6985G>C)
c.11228G>C (p.Gly3743Ala)
c.11303G>C (p.Gly3768Ala)
n.245G>C
c.11300G>C (p.Gly3767Ala)
c.11225G>C (p.Gly3742Ala)
c.10925G>C (p.Gly3642Ala)
c.8189G>C (p.Gly2730Ala)
c.7082G>C (p.Gly2361Ala)
c.11108G>C (p.Gly3703Ala)
c.6860G>C (p.Gly2287Ala)
c.10088G>C (p.Gly3363Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868301G>TCA371791741VPS13Bc.*397G>T (n.*397G>T)
n.11373G>T
c.*6985G>T (n.*6985G>T)
c.11228G>T (p.Gly3743Val)
c.11303G>T (p.Gly3768Val)
n.245G>T
c.11300G>T (p.Gly3767Val)
c.11225G>T (p.Gly3742Val)
c.10925G>T (p.Gly3642Val)
c.8189G>T (p.Gly2730Val)
c.7082G>T (p.Gly2361Val)
c.11108G>T (p.Gly3703Val)
c.6860G>T (p.Gly2287Val)
c.10088G>T (p.Gly3363Val)
8g.99868302T>ACA462339103VPS13Bc.*398T>A (n.*398T>A)
n.11374T>A
c.*6986T>A (n.*6986T>A)
c.11229T>A (p.Gly3743=)
c.11304T>A (p.Gly3768=)
n.246T>A
c.11301T>A (p.Gly3767=)
c.11226T>A (p.Gly3742=)
c.10926T>A (p.Gly3642=)
c.8190T>A (p.Gly2730=)
c.7083T>A (p.Gly2361=)
c.11109T>A (p.Gly3703=)
c.6861T>A (p.Gly2287=)
c.10089T>A (p.Gly3363=)
 dbSNP gnomAD v2
8g.99868302T>CCA462339104VPS13Bc.*398T>C (n.*398T>C)
n.11374T>C
c.*6986T>C (n.*6986T>C)
c.11229T>C (p.Gly3743=)
c.11304T>C (p.Gly3768=)
n.246T>C
c.11301T>C (p.Gly3767=)
c.11226T>C (p.Gly3742=)
c.10926T>C (p.Gly3642=)
c.8190T>C (p.Gly2730=)
c.7083T>C (p.Gly2361=)
c.11109T>C (p.Gly3703=)
c.6861T>C (p.Gly2287=)
c.10089T>C (p.Gly3363=)
8g.99868302T>GCA462339105VPS13Bc.*398T>G (n.*398T>G)
n.11374T>G
c.*6986T>G (n.*6986T>G)
c.11229T>G (p.Gly3743=)
c.11304T>G (p.Gly3768=)
n.246T>G
c.11301T>G (p.Gly3767=)
c.11226T>G (p.Gly3742=)
c.10926T>G (p.Gly3642=)
c.8190T>G (p.Gly2730=)
c.7083T>G (p.Gly2361=)
c.11109T>G (p.Gly3703=)
c.6861T>G (p.Gly2287=)
c.10089T>G (p.Gly3363=)
8g.99868303A>CCA371791744VPS13Bc.*399A>C (n.*399A>C)
n.11375A>C
c.*6987A>C (n.*6987A>C)
c.11230A>C (p.Ile3744Leu)
c.11305A>C (p.Ile3769Leu)
n.247A>C
c.11302A>C (p.Ile3768Leu)
c.11227A>C (p.Ile3743Leu)
c.10927A>C (p.Ile3643Leu)
c.8191A>C (p.Ile2731Leu)
c.7084A>C (p.Ile2362Leu)
c.11110A>C (p.Ile3704Leu)
c.6862A>C (p.Ile2288Leu)
c.10090A>C (p.Ile3364Leu)
8g.99868303A>GCA371791745VPS13Bc.*399A>G (n.*399A>G)
n.11375A>G
c.*6987A>G (n.*6987A>G)
c.11230A>G (p.Ile3744Val)
c.11305A>G (p.Ile3769Val)
n.247A>G
c.11302A>G (p.Ile3768Val)
c.11227A>G (p.Ile3743Val)
c.10927A>G (p.Ile3643Val)
c.8191A>G (p.Ile2731Val)
c.7084A>G (p.Ile2362Val)
c.11110A>G (p.Ile3704Val)
c.6862A>G (p.Ile2288Val)
c.10090A>G (p.Ile3364Val)
 ClinVar gnomAD v4
8g.99868303A>TCA371791747VPS13Bc.*399A>T (n.*399A>T)
n.11375A>T
c.*6987A>T (n.*6987A>T)
c.11230A>T (p.Ile3744Leu)
c.11305A>T (p.Ile3769Leu)
n.247A>T
c.11302A>T (p.Ile3768Leu)
c.11227A>T (p.Ile3743Leu)
c.10927A>T (p.Ile3643Leu)
c.8191A>T (p.Ile2731Leu)
c.7084A>T (p.Ile2362Leu)
c.11110A>T (p.Ile3704Leu)
c.6862A>T (p.Ile2288Leu)
c.10090A>T (p.Ile3364Leu)
8g.99868304T>ACA371791749VPS13Bc.*400T>A (n.*400T>A)
n.11376T>A
c.*6988T>A (n.*6988T>A)
c.11231T>A (p.Ile3744Lys)
c.11306T>A (p.Ile3769Lys)
n.248T>A
c.11303T>A (p.Ile3768Lys)
c.11228T>A (p.Ile3743Lys)
c.10928T>A (p.Ile3643Lys)
c.8192T>A (p.Ile2731Lys)
c.7085T>A (p.Ile2362Lys)
c.11111T>A (p.Ile3704Lys)
c.6863T>A (p.Ile2288Lys)
c.10091T>A (p.Ile3364Lys)
8g.99868304T>CCA182328607VPS13Bc.*400T>C (n.*400T>C)
n.11376T>C
c.*6988T>C (n.*6988T>C)
c.11231T>C (p.Ile3744Thr)
c.11306T>C (p.Ile3769Thr)
n.248T>C
c.11303T>C (p.Ile3768Thr)
c.11228T>C (p.Ile3743Thr)
c.10928T>C (p.Ile3643Thr)
c.8192T>C (p.Ile2731Thr)
c.7085T>C (p.Ile2362Thr)
c.11111T>C (p.Ile3704Thr)
c.6863T>C (p.Ile2288Thr)
c.10091T>C (p.Ile3364Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99868304T>GCA182328605VPS13Bc.*400T>G (n.*400T>G)
n.11376T>G
c.*6988T>G (n.*6988T>G)
c.11231T>G (p.Ile3744Arg)
c.11306T>G (p.Ile3769Arg)
n.248T>G
c.11303T>G (p.Ile3768Arg)
c.11228T>G (p.Ile3743Arg)
c.10928T>G (p.Ile3643Arg)
c.8192T>G (p.Ile2731Arg)
c.7085T>G (p.Ile2362Arg)
c.11111T>G (p.Ile3704Arg)
c.6863T>G (p.Ile2288Arg)
c.10091T>G (p.Ile3364Arg)
 dbSNP gnomAD v4
8g.99868305A>CCA462339111VPS13Bc.*401A>C (n.*401A>C)
n.11377A>C
c.*6989A>C (n.*6989A>C)
c.11232A>C (p.Ile3744=)
c.11307A>C (p.Ile3769=)
n.249A>C
c.11304A>C (p.Ile3768=)
c.11229A>C (p.Ile3743=)
c.10929A>C (p.Ile3643=)
c.8193A>C (p.Ile2731=)
c.7086A>C (p.Ile2362=)
c.11112A>C (p.Ile3704=)
c.6864A>C (p.Ile2288=)
c.10092A>C (p.Ile3364=)
8g.99868305A>GCA371791753VPS13Bc.*401A>G (n.*401A>G)
n.11377A>G
c.*6989A>G (n.*6989A>G)
c.11232A>G (p.Ile3744Met)
c.11307A>G (p.Ile3769Met)
n.249A>G
c.11304A>G (p.Ile3768Met)
c.11229A>G (p.Ile3743Met)
c.10929A>G (p.Ile3643Met)
c.8193A>G (p.Ile2731Met)
c.7086A>G (p.Ile2362Met)
c.11112A>G (p.Ile3704Met)
c.6864A>G (p.Ile2288Met)
c.10092A>G (p.Ile3364Met)
8g.99868305A>TCA462339110VPS13Bc.*401A>T (n.*401A>T)
n.11377A>T
c.*6989A>T (n.*6989A>T)
c.11232A>T (p.Ile3744=)
c.11307A>T (p.Ile3769=)
n.249A>T
c.11304A>T (p.Ile3768=)
c.11229A>T (p.Ile3743=)
c.10929A>T (p.Ile3643=)
c.8193A>T (p.Ile2731=)
c.7086A>T (p.Ile2362=)
c.11112A>T (p.Ile3704=)
c.6864A>T (p.Ile2288=)
c.10092A>T (p.Ile3364=)
8g.99868306G>ACA371791757VPS13Bc.*402G>A (n.*402G>A)
n.11378G>A
c.*6990G>A (n.*6990G>A)
c.11233G>A (p.Val3745Ile)
c.11308G>A (p.Val3770Ile)
n.250G>A
c.11305G>A (p.Val3769Ile)
c.11230G>A (p.Val3744Ile)
c.10930G>A (p.Val3644Ile)
c.8194G>A (p.Val2732Ile)
c.7087G>A (p.Val2363Ile)
c.11113G>A (p.Val3705Ile)
c.6865G>A (p.Val2289Ile)
c.10093G>A (p.Val3365Ile)
8g.99868306G>CCA371791759VPS13Bc.*402G>C (n.*402G>C)
n.11378G>C
c.*6990G>C (n.*6990G>C)
c.11233G>C (p.Val3745Leu)
c.11308G>C (p.Val3770Leu)
n.250G>C
c.11305G>C (p.Val3769Leu)
c.11230G>C (p.Val3744Leu)
c.10930G>C (p.Val3644Leu)
c.8194G>C (p.Val2732Leu)
c.7087G>C (p.Val2363Leu)
c.11113G>C (p.Val3705Leu)
c.6865G>C (p.Val2289Leu)
c.10093G>C (p.Val3365Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99868306G>TCA182328608VPS13Bc.*402G>T (n.*402G>T)
n.11378G>T
c.*6990G>T (n.*6990G>T)
c.11233G>T (p.Val3745Phe)
c.11308G>T (p.Val3770Phe)
n.250G>T
c.11305G>T (p.Val3769Phe)
c.11230G>T (p.Val3744Phe)
c.10930G>T (p.Val3644Phe)
c.8194G>T (p.Val2732Phe)
c.7087G>T (p.Val2363Phe)
c.11113G>T (p.Val3705Phe)
c.6865G>T (p.Val2289Phe)
c.10093G>T (p.Val3365Phe)
 dbSNP
8g.99868307T>ACA371791761VPS13Bc.*403T>A (n.*403T>A)
n.11379T>A
c.*6991T>A (n.*6991T>A)
c.11234T>A (p.Val3745Asp)
c.11309T>A (p.Val3770Asp)
n.251T>A
c.11306T>A (p.Val3769Asp)
c.11231T>A (p.Val3744Asp)
c.10931T>A (p.Val3644Asp)
c.8195T>A (p.Val2732Asp)
c.7088T>A (p.Val2363Asp)
c.11114T>A (p.Val3705Asp)
c.6866T>A (p.Val2289Asp)
c.10094T>A (p.Val3365Asp)
8g.99868307T>CCA371791763VPS13Bc.*403T>C (n.*403T>C)
n.11379T>C
c.*6991T>C (n.*6991T>C)
c.11234T>C (p.Val3745Ala)
c.11309T>C (p.Val3770Ala)
n.251T>C
c.11306T>C (p.Val3769Ala)
c.11231T>C (p.Val3744Ala)
c.10931T>C (p.Val3644Ala)
c.8195T>C (p.Val2732Ala)
c.7088T>C (p.Val2363Ala)
c.11114T>C (p.Val3705Ala)
c.6866T>C (p.Val2289Ala)
c.10094T>C (p.Val3365Ala)
 gnomAD v4
8g.99868307T>GCA371791764VPS13Bc.*403T>G (n.*403T>G)
n.11379T>G
c.*6991T>G (n.*6991T>G)
c.11234T>G (p.Val3745Gly)
c.11309T>G (p.Val3770Gly)
n.251T>G
c.11306T>G (p.Val3769Gly)
c.11231T>G (p.Val3744Gly)
c.10931T>G (p.Val3644Gly)
c.8195T>G (p.Val2732Gly)
c.7088T>G (p.Val2363Gly)
c.11114T>G (p.Val3705Gly)
c.6866T>G (p.Val2289Gly)
c.10094T>G (p.Val3365Gly)
8g.99868308T>ACA462339116VPS13Bc.*404T>A (n.*404T>A)
n.11380T>A
c.*6992T>A (n.*6992T>A)
c.11235T>A (p.Val3745=)
c.11310T>A (p.Val3770=)
n.252T>A
c.11307T>A (p.Val3769=)
c.11232T>A (p.Val3744=)
c.10932T>A (p.Val3644=)
c.8196T>A (p.Val2732=)
c.7089T>A (p.Val2363=)
c.11115T>A (p.Val3705=)
c.6867T>A (p.Val2289=)
c.10095T>A (p.Val3365=)
8g.99868308T>CCA462339117VPS13Bc.*404T>C (n.*404T>C)
n.11380T>C
c.*6992T>C (n.*6992T>C)
c.11235T>C (p.Val3745=)
c.11310T>C (p.Val3770=)
n.252T>C
c.11307T>C (p.Val3769=)
c.11232T>C (p.Val3744=)
c.10932T>C (p.Val3644=)
c.8196T>C (p.Val2732=)
c.7089T>C (p.Val2363=)
c.11115T>C (p.Val3705=)
c.6867T>C (p.Val2289=)
c.10095T>C (p.Val3365=)
8g.99868308T>GCA462339118VPS13Bc.*404T>G (n.*404T>G)
n.11380T>G
c.*6992T>G (n.*6992T>G)
c.11235T>G (p.Val3745=)
c.11310T>G (p.Val3770=)
n.252T>G
c.11307T>G (p.Val3769=)
c.11232T>G (p.Val3744=)
c.10932T>G (p.Val3644=)
c.8196T>G (p.Val2732=)
c.7089T>G (p.Val2363=)
c.11115T>G (p.Val3705=)
c.6867T>G (p.Val2289=)
c.10095T>G (p.Val3365=)
8g.99868308_99868309delCA913128147VPS13Bc.*404_*405del (n.*404_*405del)
n.11380_11381del
c.*6992_*6993del (n.*6992_*6993del)
c.11235_11236del (p.Asp3746SerfsTer11)
c.11310_11311del (p.Asp3771SerfsTer11)
n.252_253del
c.11307_11308del (p.Asp3770SerfsTer11)
c.11232_11233del (p.Asp3745SerfsTer11)
c.10932_10933del (p.Asp3645SerfsTer11)
c.8196_8197del (p.Asp2733SerfsTer11)
c.7089_7090del (p.Asp2364SerfsTer11)
c.11115_11116del (p.Asp3706SerfsTer11)
c.6867_6868del (p.Asp2290SerfsTer11)
c.10095_10096del (p.Asp3366SerfsTer11)
8g.99868309delCA658821917VPS13Bc.*405del (n.*405del)
n.11381del
c.*6993del (n.*6993del)
c.11236del (p.Asp3746IlefsTer?)
c.11311del (p.Asp3771IlefsTer?)
n.253del
c.11308del (p.Asp3770IlefsTer?)
c.11233del (p.Asp3745IlefsTer?)
c.10933del (p.Asp3645IlefsTer?)
c.8197del (p.Asp2733IlefsTer?)
c.7090del (p.Asp2364IlefsTer?)
c.11116del (p.Asp3706IlefsTer?)
c.6868del (p.Asp2290IlefsTer?)
c.10096del (p.Asp3366IlefsTer?)
 ClinVar dbSNP gnomAD v4
8g.99868309G>ACA371791767VPS13Bc.*405G>A (n.*405G>A)
n.11381G>A
c.*6993G>A (n.*6993G>A)
c.11236G>A (p.Asp3746Asn)
c.11311G>A (p.Asp3771Asn)
n.253G>A
c.11308G>A (p.Asp3770Asn)
c.11233G>A (p.Asp3745Asn)
c.10933G>A (p.Asp3645Asn)
c.8197G>A (p.Asp2733Asn)
c.7090G>A (p.Asp2364Asn)
c.11116G>A (p.Asp3706Asn)
c.6868G>A (p.Asp2290Asn)
c.10096G>A (p.Asp3366Asn)
 gnomAD v4
8g.99868309G>CCA371791768VPS13Bc.*405G>C (n.*405G>C)
n.11381G>C
c.*6993G>C (n.*6993G>C)
c.11236G>C (p.Asp3746His)
c.11311G>C (p.Asp3771His)
n.253G>C
c.11308G>C (p.Asp3770His)
c.11233G>C (p.Asp3745His)
c.10933G>C (p.Asp3645His)
c.8197G>C (p.Asp2733His)
c.7090G>C (p.Asp2364His)
c.11116G>C (p.Asp3706His)
c.6868G>C (p.Asp2290His)
c.10096G>C (p.Asp3366His)
 gnomAD v4
8g.99868309G>TCA371791769VPS13Bc.*405G>T (n.*405G>T)
n.11381G>T
c.*6993G>T (n.*6993G>T)
c.11236G>T (p.Asp3746Tyr)
c.11311G>T (p.Asp3771Tyr)
n.253G>T
c.11308G>T (p.Asp3770Tyr)
c.11233G>T (p.Asp3745Tyr)
c.10933G>T (p.Asp3645Tyr)
c.8197G>T (p.Asp2733Tyr)
c.7090G>T (p.Asp2364Tyr)
c.11116G>T (p.Asp3706Tyr)
c.6868G>T (p.Asp2290Tyr)
c.10096G>T (p.Asp3366Tyr)
8g.99868310A>CCA371791771VPS13Bc.*406A>C (n.*406A>C)
n.11382A>C
c.*6994A>C (n.*6994A>C)
c.11237A>C (p.Asp3746Ala)
c.11312A>C (p.Asp3771Ala)
n.254A>C
c.11309A>C (p.Asp3770Ala)
c.11234A>C (p.Asp3745Ala)
c.10934A>C (p.Asp3645Ala)
c.8198A>C (p.Asp2733Ala)
c.7091A>C (p.Asp2364Ala)
c.11117A>C (p.Asp3706Ala)
c.6869A>C (p.Asp2290Ala)
c.10097A>C (p.Asp3366Ala)
8g.99868310A>GCA371791772VPS13Bc.*406A>G (n.*406A>G)
n.11382A>G
c.*6994A>G (n.*6994A>G)
c.11237A>G (p.Asp3746Gly)
c.11312A>G (p.Asp3771Gly)
n.254A>G
c.11309A>G (p.Asp3770Gly)
c.11234A>G (p.Asp3745Gly)
c.10934A>G (p.Asp3645Gly)
c.8198A>G (p.Asp2733Gly)
c.7091A>G (p.Asp2364Gly)
c.11117A>G (p.Asp3706Gly)
c.6869A>G (p.Asp2290Gly)
c.10097A>G (p.Asp3366Gly)
8g.99868310A>TCA371791774VPS13Bc.*406A>T (n.*406A>T)
n.11382A>T
c.*6994A>T (n.*6994A>T)
c.11237A>T (p.Asp3746Val)
c.11312A>T (p.Asp3771Val)
n.254A>T
c.11309A>T (p.Asp3770Val)
c.11234A>T (p.Asp3745Val)
c.10934A>T (p.Asp3645Val)
c.8198A>T (p.Asp2733Val)
c.7091A>T (p.Asp2364Val)
c.11117A>T (p.Asp3706Val)
c.6869A>T (p.Asp2290Val)
c.10097A>T (p.Asp3366Val)
8g.99868311T>ACA371791776VPS13Bc.*407T>A (n.*407T>A)
n.11383T>A
c.*6995T>A (n.*6995T>A)
c.11238T>A (p.Asp3746Glu)
c.11313T>A (p.Asp3771Glu)
n.255T>A
c.11310T>A (p.Asp3770Glu)
c.11235T>A (p.Asp3745Glu)
c.10935T>A (p.Asp3645Glu)
c.8199T>A (p.Asp2733Glu)
c.7092T>A (p.Asp2364Glu)
c.11118T>A (p.Asp3706Glu)
c.6870T>A (p.Asp2290Glu)
c.10098T>A (p.Asp3366Glu)
8g.99868311T>CCA462339120VPS13Bc.*407T>C (n.*407T>C)
n.11383T>C
c.*6995T>C (n.*6995T>C)
c.11238T>C (p.Asp3746=)
c.11313T>C (p.Asp3771=)
n.255T>C
c.11310T>C (p.Asp3770=)
c.11235T>C (p.Asp3745=)
c.10935T>C (p.Asp3645=)
c.8199T>C (p.Asp2733=)
c.7092T>C (p.Asp2364=)
c.11118T>C (p.Asp3706=)
c.6870T>C (p.Asp2290=)
c.10098T>C (p.Asp3366=)
 dbSNP
8g.99868311T>GCA371791777VPS13Bc.*407T>G (n.*407T>G)
n.11383T>G
c.*6995T>G (n.*6995T>G)
c.11238T>G (p.Asp3746Glu)
c.11313T>G (p.Asp3771Glu)
n.255T>G
c.11310T>G (p.Asp3770Glu)
c.11235T>G (p.Asp3745Glu)
c.10935T>G (p.Asp3645Glu)
c.8199T>G (p.Asp2733Glu)
c.7092T>G (p.Asp2364Glu)
c.11118T>G (p.Asp3706Glu)
c.6870T>G (p.Asp2290Glu)
c.10098T>G (p.Asp3366Glu)
8g.99868312C>ACA371791783VPS13Bc.*408C>A (n.*408C>A)
n.11384C>A
c.*6996C>A (n.*6996C>A)
c.11239C>A (p.Gln3747Lys)
c.11314C>A (p.Gln3772Lys)
n.256C>A
c.11311C>A (p.Gln3771Lys)
c.11236C>A (p.Gln3746Lys)
c.10936C>A (p.Gln3646Lys)
c.8200C>A (p.Gln2734Lys)
c.7093C>A (p.Gln2365Lys)
c.11119C>A (p.Gln3707Lys)
c.6871C>A (p.Gln2291Lys)
c.10099C>A (p.Gln3367Lys)
8g.99868312C>GCA371791781VPS13Bc.*408C>G (n.*408C>G)
n.11384C>G
c.*6996C>G (n.*6996C>G)
c.11239C>G (p.Gln3747Glu)
c.11314C>G (p.Gln3772Glu)
n.256C>G
c.11311C>G (p.Gln3771Glu)
c.11236C>G (p.Gln3746Glu)
c.10936C>G (p.Gln3646Glu)
c.8200C>G (p.Gln2734Glu)
c.7093C>G (p.Gln2365Glu)
c.11119C>G (p.Gln3707Glu)
c.6871C>G (p.Gln2291Glu)
c.10099C>G (p.Gln3367Glu)
8g.99868312C>TCA264008VPS13Bc.*408C>T (n.*408C>T)
n.11384C>T
c.*6996C>T (n.*6996C>T)
c.11239C>T (p.Gln3747Ter)
c.11314C>T (p.Gln3772Ter)
n.256C>T
c.11311C>T (p.Gln3771Ter)
c.11236C>T (p.Gln3746Ter)
c.10936C>T (p.Gln3646Ter)
c.8200C>T (p.Gln2734Ter)
c.7093C>T (p.Gln2365Ter)
c.11119C>T (p.Gln3707Ter)
c.6871C>T (p.Gln2291Ter)
c.10099C>T (p.Gln3367Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99868313A>CCA371791784VPS13Bc.*409A>C (n.*409A>C)
n.11385A>C
c.*6997A>C (n.*6997A>C)
c.11240A>C (p.Gln3747Pro)
c.11315A>C (p.Gln3772Pro)
n.257A>C
c.11312A>C (p.Gln3771Pro)
c.11237A>C (p.Gln3746Pro)
c.10937A>C (p.Gln3646Pro)
c.8201A>C (p.Gln2734Pro)
c.7094A>C (p.Gln2365Pro)
c.11120A>C (p.Gln3707Pro)
c.6872A>C (p.Gln2291Pro)
c.10100A>C (p.Gln3367Pro)
8g.99868313A>GCA4825192VPS13Bc.*409A>G (n.*409A>G)
n.11385A>G
c.*6997A>G (n.*6997A>G)
c.11240A>G (p.Gln3747Arg)
c.11315A>G (p.Gln3772Arg)
n.257A>G
c.11312A>G (p.Gln3771Arg)
c.11237A>G (p.Gln3746Arg)
c.10937A>G (p.Gln3646Arg)
c.8201A>G (p.Gln2734Arg)
c.7094A>G (p.Gln2365Arg)
c.11120A>G (p.Gln3707Arg)
c.6872A>G (p.Gln2291Arg)
c.10100A>G (p.Gln3367Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868313A>TCA371791787VPS13Bc.*409A>T (n.*409A>T)
n.11385A>T
c.*6997A>T (n.*6997A>T)
c.11240A>T (p.Gln3747Leu)
c.11315A>T (p.Gln3772Leu)
n.257A>T
c.11312A>T (p.Gln3771Leu)
c.11237A>T (p.Gln3746Leu)
c.10937A>T (p.Gln3646Leu)
c.8201A>T (p.Gln2734Leu)
c.7094A>T (p.Gln2365Leu)
c.11120A>T (p.Gln3707Leu)
c.6872A>T (p.Gln2291Leu)
c.10100A>T (p.Gln3367Leu)
 dbSNP gnomAD v4

Number of alleles fetched