Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99868293A>CCA462339090VPS13Bc.*389A>C (n.*389A>C)
n.11365A>C
c.*6977A>C (n.*6977A>C)
c.11220A>C (p.Ala3740=)
c.11295A>C (p.Ala3765=)
n.237A>C
c.11292A>C (p.Ala3764=)
c.11217A>C (p.Ala3739=)
c.10917A>C (p.Ala3639=)
c.8181A>C (p.Ala2727=)
c.7074A>C (p.Ala2358=)
c.11100A>C (p.Ala3700=)
c.6852A>C (p.Ala2284=)
c.10080A>C (p.Ala3360=)
8g.99868293A>GCA4825188VPS13Bc.*389A>G (n.*389A>G)
n.11365A>G
c.*6977A>G (n.*6977A>G)
c.11220A>G (p.Ala3740=)
c.11295A>G (p.Ala3765=)
n.237A>G
c.11292A>G (p.Ala3764=)
c.11217A>G (p.Ala3739=)
c.10917A>G (p.Ala3639=)
c.8181A>G (p.Ala2727=)
c.7074A>G (p.Ala2358=)
c.11100A>G (p.Ala3700=)
c.6852A>G (p.Ala2284=)
c.10080A>G (p.Ala3360=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868293A>TCA4825189VPS13Bc.*389A>T (n.*389A>T)
n.11365A>T
c.*6977A>T (n.*6977A>T)
c.11220A>T (p.Ala3740=)
c.11295A>T (p.Ala3765=)
n.237A>T
c.11292A>T (p.Ala3764=)
c.11217A>T (p.Ala3739=)
c.10917A>T (p.Ala3639=)
c.8181A>T (p.Ala2727=)
c.7074A>T (p.Ala2358=)
c.11100A>T (p.Ala3700=)
c.6852A>T (p.Ala2284=)
c.10080A>T (p.Ala3360=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868294A>CCA371791711VPS13Bc.*390A>C (n.*390A>C)
n.11366A>C
c.*6978A>C (n.*6978A>C)
c.11221A>C (p.Ile3741Leu)
c.11296A>C (p.Ile3766Leu)
n.238A>C
c.11293A>C (p.Ile3765Leu)
c.11218A>C (p.Ile3740Leu)
c.10918A>C (p.Ile3640Leu)
c.8182A>C (p.Ile2728Leu)
c.7075A>C (p.Ile2359Leu)
c.11101A>C (p.Ile3701Leu)
c.6853A>C (p.Ile2285Leu)
c.10081A>C (p.Ile3361Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99868294A>GCA371791713VPS13Bc.*390A>G (n.*390A>G)
n.11366A>G
c.*6978A>G (n.*6978A>G)
c.11221A>G (p.Ile3741Val)
c.11296A>G (p.Ile3766Val)
n.238A>G
c.11293A>G (p.Ile3765Val)
c.11218A>G (p.Ile3740Val)
c.10918A>G (p.Ile3640Val)
c.8182A>G (p.Ile2728Val)
c.7075A>G (p.Ile2359Val)
c.11101A>G (p.Ile3701Val)
c.6853A>G (p.Ile2285Val)
c.10081A>G (p.Ile3361Val)
 ClinVar gnomAD v4
8g.99868294A>TCA371791712VPS13Bc.*390A>T (n.*390A>T)
n.11366A>T
c.*6978A>T (n.*6978A>T)
c.11221A>T (p.Ile3741Phe)
c.11296A>T (p.Ile3766Phe)
n.238A>T
c.11293A>T (p.Ile3765Phe)
c.11218A>T (p.Ile3740Phe)
c.10918A>T (p.Ile3640Phe)
c.8182A>T (p.Ile2728Phe)
c.7075A>T (p.Ile2359Phe)
c.11101A>T (p.Ile3701Phe)
c.6853A>T (p.Ile2285Phe)
c.10081A>T (p.Ile3361Phe)
8g.99868295T>ACA371791716VPS13Bc.*391T>A (n.*391T>A)
n.11367T>A
c.*6979T>A (n.*6979T>A)
c.11222T>A (p.Ile3741Asn)
c.11297T>A (p.Ile3766Asn)
n.239T>A
c.11294T>A (p.Ile3765Asn)
c.11219T>A (p.Ile3740Asn)
c.10919T>A (p.Ile3640Asn)
c.8183T>A (p.Ile2728Asn)
c.7076T>A (p.Ile2359Asn)
c.11102T>A (p.Ile3701Asn)
c.6854T>A (p.Ile2285Asn)
c.10082T>A (p.Ile3361Asn)
8g.99868295T>CCA371791717VPS13Bc.*391T>C (n.*391T>C)
n.11367T>C
c.*6979T>C (n.*6979T>C)
c.11222T>C (p.Ile3741Thr)
c.11297T>C (p.Ile3766Thr)
n.239T>C
c.11294T>C (p.Ile3765Thr)
c.11219T>C (p.Ile3740Thr)
c.10919T>C (p.Ile3640Thr)
c.8183T>C (p.Ile2728Thr)
c.7076T>C (p.Ile2359Thr)
c.11102T>C (p.Ile3701Thr)
c.6854T>C (p.Ile2285Thr)
c.10082T>C (p.Ile3361Thr)
8g.99868295T>GCA371791719VPS13Bc.*391T>G (n.*391T>G)
n.11367T>G
c.*6979T>G (n.*6979T>G)
c.11222T>G (p.Ile3741Ser)
c.11297T>G (p.Ile3766Ser)
n.239T>G
c.11294T>G (p.Ile3765Ser)
c.11219T>G (p.Ile3740Ser)
c.10919T>G (p.Ile3640Ser)
c.8183T>G (p.Ile2728Ser)
c.7076T>G (p.Ile2359Ser)
c.11102T>G (p.Ile3701Ser)
c.6854T>G (p.Ile2285Ser)
c.10082T>G (p.Ile3361Ser)
8g.99868296T>ACA462339092VPS13Bc.*392T>A (n.*392T>A)
n.11368T>A
c.*6980T>A (n.*6980T>A)
c.11223T>A (p.Ile3741=)
c.11298T>A (p.Ile3766=)
n.240T>A
c.11295T>A (p.Ile3765=)
c.11220T>A (p.Ile3740=)
c.10920T>A (p.Ile3640=)
c.8184T>A (p.Ile2728=)
c.7077T>A (p.Ile2359=)
c.11103T>A (p.Ile3701=)
c.6855T>A (p.Ile2285=)
c.10083T>A (p.Ile3361=)
8g.99868296T>CCA462339094VPS13Bc.*392T>C (n.*392T>C)
n.11368T>C
c.*6980T>C (n.*6980T>C)
c.11223T>C (p.Ile3741=)
c.11298T>C (p.Ile3766=)
n.240T>C
c.11295T>C (p.Ile3765=)
c.11220T>C (p.Ile3740=)
c.10920T>C (p.Ile3640=)
c.8184T>C (p.Ile2728=)
c.7077T>C (p.Ile2359=)
c.11103T>C (p.Ile3701=)
c.6855T>C (p.Ile2285=)
c.10083T>C (p.Ile3361=)
 ClinVar
8g.99868296T>GCA182328569VPS13Bc.*392T>G (n.*392T>G)
n.11368T>G
c.*6980T>G (n.*6980T>G)
c.11223T>G (p.Ile3741Met)
c.11298T>G (p.Ile3766Met)
n.240T>G
c.11295T>G (p.Ile3765Met)
c.11220T>G (p.Ile3740Met)
c.10920T>G (p.Ile3640Met)
c.8184T>G (p.Ile2728Met)
c.7077T>G (p.Ile2359Met)
c.11103T>G (p.Ile3701Met)
c.6855T>G (p.Ile2285Met)
c.10083T>G (p.Ile3361Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99868297G>ACA371791722VPS13Bc.*393G>A (n.*393G>A)
n.11369G>A
c.*6981G>A (n.*6981G>A)
c.11224G>A (p.Ala3742Thr)
c.11299G>A (p.Ala3767Thr)
n.241G>A
c.11296G>A (p.Ala3766Thr)
c.11221G>A (p.Ala3741Thr)
c.10921G>A (p.Ala3641Thr)
c.8185G>A (p.Ala2729Thr)
c.7078G>A (p.Ala2360Thr)
c.11104G>A (p.Ala3702Thr)
c.6856G>A (p.Ala2286Thr)
c.10084G>A (p.Ala3362Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.99868297G>CCA371791723VPS13Bc.*393G>C (n.*393G>C)
n.11369G>C
c.*6981G>C (n.*6981G>C)
c.11224G>C (p.Ala3742Pro)
c.11299G>C (p.Ala3767Pro)
n.241G>C
c.11296G>C (p.Ala3766Pro)
c.11221G>C (p.Ala3741Pro)
c.10921G>C (p.Ala3641Pro)
c.8185G>C (p.Ala2729Pro)
c.7078G>C (p.Ala2360Pro)
c.11104G>C (p.Ala3702Pro)
c.6856G>C (p.Ala2286Pro)
c.10084G>C (p.Ala3362Pro)
8g.99868297G>TCA371791725VPS13Bc.*393G>T (n.*393G>T)
n.11369G>T
c.*6981G>T (n.*6981G>T)
c.11224G>T (p.Ala3742Ser)
c.11299G>T (p.Ala3767Ser)
n.241G>T
c.11296G>T (p.Ala3766Ser)
c.11221G>T (p.Ala3741Ser)
c.10921G>T (p.Ala3641Ser)
c.8185G>T (p.Ala2729Ser)
c.7078G>T (p.Ala2360Ser)
c.11104G>T (p.Ala3702Ser)
c.6856G>T (p.Ala2286Ser)
c.10084G>T (p.Ala3362Ser)
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

Number of alleles fetched