Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99853507T>ACA371780824VPS13Bc.10193T>A (p.Val3398Glu)
n.10263T>A
c.*5875T>A (n.*5875T>A)
c.10118T>A (p.Val3373Glu)
c.10190T>A (p.Val3397Glu)
c.10115T>A (p.Val3372Glu)
c.9815T>A (p.Val3272Glu)
c.7079T>A (p.Val2360Glu)
c.5972T>A (p.Val1991Glu)
c.9998T>A (p.Val3333Glu)
c.5750T>A (p.Val1917Glu)
c.8978T>A (p.Val2993Glu)
8g.99853507T>CCA371780822VPS13Bc.10193T>C (p.Val3398Ala)
n.10263T>C
c.*5875T>C (n.*5875T>C)
c.10118T>C (p.Val3373Ala)
c.10190T>C (p.Val3397Ala)
c.10115T>C (p.Val3372Ala)
c.9815T>C (p.Val3272Ala)
c.7079T>C (p.Val2360Ala)
c.5972T>C (p.Val1991Ala)
c.9998T>C (p.Val3333Ala)
c.5750T>C (p.Val1917Ala)
c.8978T>C (p.Val2993Ala)
8g.99853507T>GCA371780823VPS13Bc.10193T>G (p.Val3398Gly)
n.10263T>G
c.*5875T>G (n.*5875T>G)
c.10118T>G (p.Val3373Gly)
c.10190T>G (p.Val3397Gly)
c.10115T>G (p.Val3372Gly)
c.9815T>G (p.Val3272Gly)
c.7079T>G (p.Val2360Gly)
c.5972T>G (p.Val1991Gly)
c.9998T>G (p.Val3333Gly)
c.5750T>G (p.Val1917Gly)
c.8978T>G (p.Val2993Gly)
8g.99853508G>ACA462458052VPS13Bc.10194G>A (p.Val3398=)
n.10264G>A
c.*5876G>A (n.*5876G>A)
c.10119G>A (p.Val3373=)
c.10191G>A (p.Val3397=)
c.10116G>A (p.Val3372=)
c.9816G>A (p.Val3272=)
c.7080G>A (p.Val2360=)
c.5973G>A (p.Val1991=)
c.9999G>A (p.Val3333=)
c.5751G>A (p.Val1917=)
c.8979G>A (p.Val2993=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853508G>CCA462458054VPS13Bc.10194G>C (p.Val3398=)
n.10264G>C
c.*5876G>C (n.*5876G>C)
c.10119G>C (p.Val3373=)
c.10191G>C (p.Val3397=)
c.10116G>C (p.Val3372=)
c.9816G>C (p.Val3272=)
c.7080G>C (p.Val2360=)
c.5973G>C (p.Val1991=)
c.9999G>C (p.Val3333=)
c.5751G>C (p.Val1917=)
c.8979G>C (p.Val2993=)
8g.99853508G>TCA462458053VPS13Bc.10194G>T (p.Val3398=)
n.10264G>T
c.*5876G>T (n.*5876G>T)
c.10119G>T (p.Val3373=)
c.10191G>T (p.Val3397=)
c.10116G>T (p.Val3372=)
c.9816G>T (p.Val3272=)
c.7080G>T (p.Val2360=)
c.5973G>T (p.Val1991=)
c.9999G>T (p.Val3333=)
c.5751G>T (p.Val1917=)
c.8979G>T (p.Val2993=)
8g.99853509T>ACA371780825VPS13Bc.10195T>A (p.Phe3399Ile)
n.10265T>A
c.*5877T>A (n.*5877T>A)
c.10120T>A (p.Phe3374Ile)
c.10192T>A (p.Phe3398Ile)
c.10117T>A (p.Phe3373Ile)
c.9817T>A (p.Phe3273Ile)
c.7081T>A (p.Phe2361Ile)
c.5974T>A (p.Phe1992Ile)
c.10000T>A (p.Phe3334Ile)
c.5752T>A (p.Phe1918Ile)
c.8980T>A (p.Phe2994Ile)
8g.99853509T>CCA371780826VPS13Bc.10195T>C (p.Phe3399Leu)
n.10265T>C
c.*5877T>C (n.*5877T>C)
c.10120T>C (p.Phe3374Leu)
c.10192T>C (p.Phe3398Leu)
c.10117T>C (p.Phe3373Leu)
c.9817T>C (p.Phe3273Leu)
c.7081T>C (p.Phe2361Leu)
c.5974T>C (p.Phe1992Leu)
c.10000T>C (p.Phe3334Leu)
c.5752T>C (p.Phe1918Leu)
c.8980T>C (p.Phe2994Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853509T>GCA371780827VPS13Bc.10195T>G (p.Phe3399Val)
n.10265T>G
c.*5877T>G (n.*5877T>G)
c.10120T>G (p.Phe3374Val)
c.10192T>G (p.Phe3398Val)
c.10117T>G (p.Phe3373Val)
c.9817T>G (p.Phe3273Val)
c.7081T>G (p.Phe2361Val)
c.5974T>G (p.Phe1992Val)
c.10000T>G (p.Phe3334Val)
c.5752T>G (p.Phe1918Val)
c.8980T>G (p.Phe2994Val)
8g.99853510T>ACA371780828VPS13Bc.10196T>A (p.Phe3399Tyr)
n.10266T>A
c.*5878T>A (n.*5878T>A)
c.10121T>A (p.Phe3374Tyr)
c.10193T>A (p.Phe3398Tyr)
c.10118T>A (p.Phe3373Tyr)
c.9818T>A (p.Phe3273Tyr)
c.7082T>A (p.Phe2361Tyr)
c.5975T>A (p.Phe1992Tyr)
c.10001T>A (p.Phe3334Tyr)
c.5753T>A (p.Phe1918Tyr)
c.8981T>A (p.Phe2994Tyr)
8g.99853510T>CCA371780829VPS13Bc.10196T>C (p.Phe3399Ser)
n.10266T>C
c.*5878T>C (n.*5878T>C)
c.10121T>C (p.Phe3374Ser)
c.10193T>C (p.Phe3398Ser)
c.10118T>C (p.Phe3373Ser)
c.9818T>C (p.Phe3273Ser)
c.7082T>C (p.Phe2361Ser)
c.5975T>C (p.Phe1992Ser)
c.10001T>C (p.Phe3334Ser)
c.5753T>C (p.Phe1918Ser)
c.8981T>C (p.Phe2994Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.99853510T>GCA371780830VPS13Bc.10196T>G (p.Phe3399Cys)
n.10266T>G
c.*5878T>G (n.*5878T>G)
c.10121T>G (p.Phe3374Cys)
c.10193T>G (p.Phe3398Cys)
c.10118T>G (p.Phe3373Cys)
c.9818T>G (p.Phe3273Cys)
c.7082T>G (p.Phe2361Cys)
c.5975T>G (p.Phe1992Cys)
c.10001T>G (p.Phe3334Cys)
c.5753T>G (p.Phe1918Cys)
c.8981T>G (p.Phe2994Cys)
8g.99853511T>ACA371780831VPS13Bc.10197T>A (p.Phe3399Leu)
n.10267T>A
c.*5879T>A (n.*5879T>A)
c.10122T>A (p.Phe3374Leu)
c.10194T>A (p.Phe3398Leu)
c.10119T>A (p.Phe3373Leu)
c.9819T>A (p.Phe3273Leu)
c.7083T>A (p.Phe2361Leu)
c.5976T>A (p.Phe1992Leu)
c.10002T>A (p.Phe3334Leu)
c.5754T>A (p.Phe1918Leu)
c.8982T>A (p.Phe2994Leu)
8g.99853511T>CCA462458055VPS13Bc.10197T>C (p.Phe3399=)
n.10267T>C
c.*5879T>C (n.*5879T>C)
c.10122T>C (p.Phe3374=)
c.10194T>C (p.Phe3398=)
c.10119T>C (p.Phe3373=)
c.9819T>C (p.Phe3273=)
c.7083T>C (p.Phe2361=)
c.5976T>C (p.Phe1992=)
c.10002T>C (p.Phe3334=)
c.5754T>C (p.Phe1918=)
c.8982T>C (p.Phe2994=)
8g.99853511T>GCA371780832VPS13Bc.10197T>G (p.Phe3399Leu)
n.10267T>G
c.*5879T>G (n.*5879T>G)
c.10122T>G (p.Phe3374Leu)
c.10194T>G (p.Phe3398Leu)
c.10119T>G (p.Phe3373Leu)
c.9819T>G (p.Phe3273Leu)
c.7083T>G (p.Phe2361Leu)
c.5976T>G (p.Phe1992Leu)
c.10002T>G (p.Phe3334Leu)
c.5754T>G (p.Phe1918Leu)
c.8982T>G (p.Phe2994Leu)
8g.99853514_99853516delCA2688071821VPS13Bc.10200_10202del (p.Asp3401del)
n.10270_10272del
c.*5882_*5884del (n.*5882_*5884del)
c.10125_10127del (p.Asp3376del)
c.10197_10199del (p.Asp3400del)
c.10122_10124del (p.Asp3375del)
c.9822_9824del (p.Asp3275del)
c.7086_7088del (p.Asp2363del)
c.5979_5981del (p.Asp1994del)
c.10005_10007del (p.Asp3336del)
c.5757_5759del (p.Asp1920del)
c.8985_8987del (p.Asp2996del)
 gnomAD v4
8g.99853512G>ACA371780833VPS13Bc.10198G>A (p.Asp3400Asn)
n.10268G>A
c.*5880G>A (n.*5880G>A)
c.10123G>A (p.Asp3375Asn)
c.10195G>A (p.Asp3399Asn)
c.10120G>A (p.Asp3374Asn)
c.9820G>A (p.Asp3274Asn)
c.7084G>A (p.Asp2362Asn)
c.5977G>A (p.Asp1993Asn)
c.10003G>A (p.Asp3335Asn)
c.5755G>A (p.Asp1919Asn)
c.8983G>A (p.Asp2995Asn)
8g.99853512G>CCA371780834VPS13Bc.10198G>C (p.Asp3400His)
n.10268G>C
c.*5880G>C (n.*5880G>C)
c.10123G>C (p.Asp3375His)
c.10195G>C (p.Asp3399His)
c.10120G>C (p.Asp3374His)
c.9820G>C (p.Asp3274His)
c.7084G>C (p.Asp2362His)
c.5977G>C (p.Asp1993His)
c.10003G>C (p.Asp3335His)
c.5755G>C (p.Asp1919His)
c.8983G>C (p.Asp2995His)
8g.99853512G>TCA4824894VPS13Bc.10198G>T (p.Asp3400Tyr)
n.10268G>T
c.*5880G>T (n.*5880G>T)
c.10123G>T (p.Asp3375Tyr)
c.10195G>T (p.Asp3399Tyr)
c.10120G>T (p.Asp3374Tyr)
c.9820G>T (p.Asp3274Tyr)
c.7084G>T (p.Asp2362Tyr)
c.5977G>T (p.Asp1993Tyr)
c.10003G>T (p.Asp3335Tyr)
c.5755G>T (p.Asp1919Tyr)
c.8983G>T (p.Asp2995Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853513A>CCA371780837VPS13Bc.10199A>C (p.Asp3400Ala)
n.10269A>C
c.*5881A>C (n.*5881A>C)
c.10124A>C (p.Asp3375Ala)
c.10196A>C (p.Asp3399Ala)
c.10121A>C (p.Asp3374Ala)
c.9821A>C (p.Asp3274Ala)
c.7085A>C (p.Asp2362Ala)
c.5978A>C (p.Asp1993Ala)
c.10004A>C (p.Asp3335Ala)
c.5756A>C (p.Asp1919Ala)
c.8984A>C (p.Asp2995Ala)
8g.99853513A>GCA371780836VPS13Bc.10199A>G (p.Asp3400Gly)
n.10269A>G
c.*5881A>G (n.*5881A>G)
c.10124A>G (p.Asp3375Gly)
c.10196A>G (p.Asp3399Gly)
c.10121A>G (p.Asp3374Gly)
c.9821A>G (p.Asp3274Gly)
c.7085A>G (p.Asp2362Gly)
c.5978A>G (p.Asp1993Gly)
c.10004A>G (p.Asp3335Gly)
c.5756A>G (p.Asp1919Gly)
c.8984A>G (p.Asp2995Gly)
8g.99853513A>TCA371780835VPS13Bc.10199A>T (p.Asp3400Val)
n.10269A>T
c.*5881A>T (n.*5881A>T)
c.10124A>T (p.Asp3375Val)
c.10196A>T (p.Asp3399Val)
c.10121A>T (p.Asp3374Val)
c.9821A>T (p.Asp3274Val)
c.7085A>T (p.Asp2362Val)
c.5978A>T (p.Asp1993Val)
c.10004A>T (p.Asp3335Val)
c.5756A>T (p.Asp1919Val)
c.8984A>T (p.Asp2995Val)
8g.99853514T>ACA371780838VPS13Bc.10200T>A (p.Asp3400Glu)
n.10270T>A
c.*5882T>A (n.*5882T>A)
c.10125T>A (p.Asp3375Glu)
c.10197T>A (p.Asp3399Glu)
c.10122T>A (p.Asp3374Glu)
c.9822T>A (p.Asp3274Glu)
c.7086T>A (p.Asp2362Glu)
c.5979T>A (p.Asp1993Glu)
c.10005T>A (p.Asp3335Glu)
c.5757T>A (p.Asp1919Glu)
c.8985T>A (p.Asp2995Glu)
8g.99853514T>CCA4824895VPS13Bc.10200T>C (p.Asp3400=)
n.10270T>C
c.*5882T>C (n.*5882T>C)
c.10125T>C (p.Asp3375=)
c.10197T>C (p.Asp3399=)
c.10122T>C (p.Asp3374=)
c.9822T>C (p.Asp3274=)
c.7086T>C (p.Asp2362=)
c.5979T>C (p.Asp1993=)
c.10005T>C (p.Asp3335=)
c.5757T>C (p.Asp1919=)
c.8985T>C (p.Asp2995=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853514T>GCA371780839VPS13Bc.10200T>G (p.Asp3400Glu)
n.10270T>G
c.*5882T>G (n.*5882T>G)
c.10125T>G (p.Asp3375Glu)
c.10197T>G (p.Asp3399Glu)
c.10122T>G (p.Asp3374Glu)
c.9822T>G (p.Asp3274Glu)
c.7086T>G (p.Asp2362Glu)
c.5979T>G (p.Asp1993Glu)
c.10005T>G (p.Asp3335Glu)
c.5757T>G (p.Asp1919Glu)
c.8985T>G (p.Asp2995Glu)
8g.99853515G>ACA371780840VPS13Bc.10201G>A (p.Asp3401Asn)
n.10271G>A
c.*5883G>A (n.*5883G>A)
c.10126G>A (p.Asp3376Asn)
c.10198G>A (p.Asp3400Asn)
c.10123G>A (p.Asp3375Asn)
c.9823G>A (p.Asp3275Asn)
c.7087G>A (p.Asp2363Asn)
c.5980G>A (p.Asp1994Asn)
c.10006G>A (p.Asp3336Asn)
c.5758G>A (p.Asp1920Asn)
c.8986G>A (p.Asp2996Asn)
 gnomAD v4
8g.99853515G>CCA371780841VPS13Bc.10201G>C (p.Asp3401His)
n.10271G>C
c.*5883G>C (n.*5883G>C)
c.10126G>C (p.Asp3376His)
c.10198G>C (p.Asp3400His)
c.10123G>C (p.Asp3375His)
c.9823G>C (p.Asp3275His)
c.7087G>C (p.Asp2363His)
c.5980G>C (p.Asp1994His)
c.10006G>C (p.Asp3336His)
c.5758G>C (p.Asp1920His)
c.8986G>C (p.Asp2996His)
8g.99853515G>TCA371780842VPS13Bc.10201G>T (p.Asp3401Tyr)
n.10271G>T
c.*5883G>T (n.*5883G>T)
c.10126G>T (p.Asp3376Tyr)
c.10198G>T (p.Asp3400Tyr)
c.10123G>T (p.Asp3375Tyr)
c.9823G>T (p.Asp3275Tyr)
c.7087G>T (p.Asp2363Tyr)
c.5980G>T (p.Asp1994Tyr)
c.10006G>T (p.Asp3336Tyr)
c.5758G>T (p.Asp1920Tyr)
c.8986G>T (p.Asp2996Tyr)
8g.99853516A>CCA371780845VPS13Bc.10202A>C (p.Asp3401Ala)
n.10272A>C
c.*5884A>C (n.*5884A>C)
c.10127A>C (p.Asp3376Ala)
c.10199A>C (p.Asp3400Ala)
c.10124A>C (p.Asp3375Ala)
c.9824A>C (p.Asp3275Ala)
c.7088A>C (p.Asp2363Ala)
c.5981A>C (p.Asp1994Ala)
c.10007A>C (p.Asp3336Ala)
c.5759A>C (p.Asp1920Ala)
c.8987A>C (p.Asp2996Ala)
 dbSNP
8g.99853516A>GCA371780843VPS13Bc.10202A>G (p.Asp3401Gly)
n.10272A>G
c.*5884A>G (n.*5884A>G)
c.10127A>G (p.Asp3376Gly)
c.10199A>G (p.Asp3400Gly)
c.10124A>G (p.Asp3375Gly)
c.9824A>G (p.Asp3275Gly)
c.7088A>G (p.Asp2363Gly)
c.5981A>G (p.Asp1994Gly)
c.10007A>G (p.Asp3336Gly)
c.5759A>G (p.Asp1920Gly)
c.8987A>G (p.Asp2996Gly)
8g.99853516A>TCA371780844VPS13Bc.10202A>T (p.Asp3401Val)
n.10272A>T
c.*5884A>T (n.*5884A>T)
c.10127A>T (p.Asp3376Val)
c.10199A>T (p.Asp3400Val)
c.10124A>T (p.Asp3375Val)
c.9824A>T (p.Asp3275Val)
c.7088A>T (p.Asp2363Val)
c.5981A>T (p.Asp1994Val)
c.10007A>T (p.Asp3336Val)
c.5759A>T (p.Asp1920Val)
c.8987A>T (p.Asp2996Val)
8g.99853517C>ACA371780846VPS13Bc.10203C>A (p.Asp3401Glu)
n.10273C>A
c.*5885C>A (n.*5885C>A)
c.10128C>A (p.Asp3376Glu)
c.10200C>A (p.Asp3400Glu)
c.10125C>A (p.Asp3375Glu)
c.9825C>A (p.Asp3275Glu)
c.7089C>A (p.Asp2363Glu)
c.5982C>A (p.Asp1994Glu)
c.10008C>A (p.Asp3336Glu)
c.5760C>A (p.Asp1920Glu)
c.8988C>A (p.Asp2996Glu)
8g.99853517C>GCA371780847VPS13Bc.10203C>G (p.Asp3401Glu)
n.10273C>G
c.*5885C>G (n.*5885C>G)
c.10128C>G (p.Asp3376Glu)
c.10200C>G (p.Asp3400Glu)
c.10125C>G (p.Asp3375Glu)
c.9825C>G (p.Asp3275Glu)
c.7089C>G (p.Asp2363Glu)
c.5982C>G (p.Asp1994Glu)
c.10008C>G (p.Asp3336Glu)
c.5760C>G (p.Asp1920Glu)
c.8988C>G (p.Asp2996Glu)
8g.99853517C>TCA462458056VPS13Bc.10203C>T (p.Asp3401=)
n.10273C>T
c.*5885C>T (n.*5885C>T)
c.10128C>T (p.Asp3376=)
c.10200C>T (p.Asp3400=)
c.10125C>T (p.Asp3375=)
c.9825C>T (p.Asp3275=)
c.7089C>T (p.Asp2363=)
c.5982C>T (p.Asp1994=)
c.10008C>T (p.Asp3336=)
c.5760C>T (p.Asp1920=)
c.8988C>T (p.Asp2996=)
 ClinVar COSMIC COSMIC
8g.99853518C>ACA371780848VPS13Bc.10204C>A (p.Leu3402Ile)
n.10274C>A
c.*5886C>A (n.*5886C>A)
c.10129C>A (p.Leu3377Ile)
c.10201C>A (p.Leu3401Ile)
c.10126C>A (p.Leu3376Ile)
c.9826C>A (p.Leu3276Ile)
c.7090C>A (p.Leu2364Ile)
c.5983C>A (p.Leu1995Ile)
c.10009C>A (p.Leu3337Ile)
c.5761C>A (p.Leu1921Ile)
c.8989C>A (p.Leu2997Ile)
8g.99853518C>GCA371780849VPS13Bc.10204C>G (p.Leu3402Val)
n.10274C>G
c.*5886C>G (n.*5886C>G)
c.10129C>G (p.Leu3377Val)
c.10201C>G (p.Leu3401Val)
c.10126C>G (p.Leu3376Val)
c.9826C>G (p.Leu3276Val)
c.7090C>G (p.Leu2364Val)
c.5983C>G (p.Leu1995Val)
c.10009C>G (p.Leu3337Val)
c.5761C>G (p.Leu1921Val)
c.8989C>G (p.Leu2997Val)
8g.99853518C>TCA4824896VPS13Bc.10204C>T (p.Leu3402Phe)
n.10274C>T
c.*5886C>T (n.*5886C>T)
c.10129C>T (p.Leu3377Phe)
c.10201C>T (p.Leu3401Phe)
c.10126C>T (p.Leu3376Phe)
c.9826C>T (p.Leu3276Phe)
c.7090C>T (p.Leu2364Phe)
c.5983C>T (p.Leu1995Phe)
c.10009C>T (p.Leu3337Phe)
c.5761C>T (p.Leu1921Phe)
c.8989C>T (p.Leu2997Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99853519T>ACA371780850VPS13Bc.10205T>A (p.Leu3402His)
n.10275T>A
c.*5887T>A (n.*5887T>A)
c.10130T>A (p.Leu3377His)
c.10202T>A (p.Leu3401His)
c.10127T>A (p.Leu3376His)
c.9827T>A (p.Leu3276His)
c.7091T>A (p.Leu2364His)
c.5984T>A (p.Leu1995His)
c.10010T>A (p.Leu3337His)
c.5762T>A (p.Leu1921His)
c.8990T>A (p.Leu2997His)
8g.99853519T>CCA371780852VPS13Bc.10205T>C (p.Leu3402Pro)
n.10275T>C
c.*5887T>C (n.*5887T>C)
c.10130T>C (p.Leu3377Pro)
c.10202T>C (p.Leu3401Pro)
c.10127T>C (p.Leu3376Pro)
c.9827T>C (p.Leu3276Pro)
c.7091T>C (p.Leu2364Pro)
c.5984T>C (p.Leu1995Pro)
c.10010T>C (p.Leu3337Pro)
c.5762T>C (p.Leu1921Pro)
c.8990T>C (p.Leu2997Pro)
8g.99853519T>GCA371780851VPS13Bc.10205T>G (p.Leu3402Arg)
n.10275T>G
c.*5887T>G (n.*5887T>G)
c.10130T>G (p.Leu3377Arg)
c.10202T>G (p.Leu3401Arg)
c.10127T>G (p.Leu3376Arg)
c.9827T>G (p.Leu3276Arg)
c.7091T>G (p.Leu2364Arg)
c.5984T>G (p.Leu1995Arg)
c.10010T>G (p.Leu3337Arg)
c.5762T>G (p.Leu1921Arg)
c.8990T>G (p.Leu2997Arg)
8g.99853520C>ACA462458057VPS13Bc.10206C>A (p.Leu3402=)
n.10276C>A
c.*5888C>A (n.*5888C>A)
c.10131C>A (p.Leu3377=)
c.10203C>A (p.Leu3401=)
c.10128C>A (p.Leu3376=)
c.9828C>A (p.Leu3276=)
c.7092C>A (p.Leu2364=)
c.5985C>A (p.Leu1995=)
c.10011C>A (p.Leu3337=)
c.5763C>A (p.Leu1921=)
c.8991C>A (p.Leu2997=)
8g.99853520C>GCA462458058VPS13Bc.10206C>G (p.Leu3402=)
n.10276C>G
c.*5888C>G (n.*5888C>G)
c.10131C>G (p.Leu3377=)
c.10203C>G (p.Leu3401=)
c.10128C>G (p.Leu3376=)
c.9828C>G (p.Leu3276=)
c.7092C>G (p.Leu2364=)
c.5985C>G (p.Leu1995=)
c.10011C>G (p.Leu3337=)
c.5763C>G (p.Leu1921=)
c.8991C>G (p.Leu2997=)
8g.99853520C>TCA4824897VPS13Bc.10206C>T (p.Leu3402=)
n.10276C>T
c.*5888C>T (n.*5888C>T)
c.10131C>T (p.Leu3377=)
c.10203C>T (p.Leu3401=)
c.10128C>T (p.Leu3376=)
c.9828C>T (p.Leu3276=)
c.7092C>T (p.Leu2364=)
c.5985C>T (p.Leu1995=)
c.10011C>T (p.Leu3337=)
c.5763C>T (p.Leu1921=)
c.8991C>T (p.Leu2997=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853521A>CCA371780853VPS13Bc.10207A>C (p.Thr3403Pro)
n.10277A>C
c.*5889A>C (n.*5889A>C)
c.10132A>C (p.Thr3378Pro)
c.10204A>C (p.Thr3402Pro)
c.10129A>C (p.Thr3377Pro)
c.9829A>C (p.Thr3277Pro)
c.7093A>C (p.Thr2365Pro)
c.5986A>C (p.Thr1996Pro)
c.10012A>C (p.Thr3338Pro)
c.5764A>C (p.Thr1922Pro)
c.8992A>C (p.Thr2998Pro)
 dbSNP gnomAD v2
8g.99853521A>GCA371780854VPS13Bc.10207A>G (p.Thr3403Ala)
n.10277A>G
c.*5889A>G (n.*5889A>G)
c.10132A>G (p.Thr3378Ala)
c.10204A>G (p.Thr3402Ala)
c.10129A>G (p.Thr3377Ala)
c.9829A>G (p.Thr3277Ala)
c.7093A>G (p.Thr2365Ala)
c.5986A>G (p.Thr1996Ala)
c.10012A>G (p.Thr3338Ala)
c.5764A>G (p.Thr1922Ala)
c.8992A>G (p.Thr2998Ala)
 ClinVar
8g.99853521A>TCA4824898VPS13Bc.10207A>T (p.Thr3403Ser)
n.10277A>T
c.*5889A>T (n.*5889A>T)
c.10132A>T (p.Thr3378Ser)
c.10204A>T (p.Thr3402Ser)
c.10129A>T (p.Thr3377Ser)
c.9829A>T (p.Thr3277Ser)
c.7093A>T (p.Thr2365Ser)
c.5986A>T (p.Thr1996Ser)
c.10012A>T (p.Thr3338Ser)
c.5764A>T (p.Thr1922Ser)
c.8992A>T (p.Thr2998Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853522C>ACA371780855VPS13Bc.10208C>A (p.Thr3403Asn)
n.10278C>A
c.*5890C>A (n.*5890C>A)
c.10133C>A (p.Thr3378Asn)
c.10205C>A (p.Thr3402Asn)
c.10130C>A (p.Thr3377Asn)
c.9830C>A (p.Thr3277Asn)
c.7094C>A (p.Thr2365Asn)
c.5987C>A (p.Thr1996Asn)
c.10013C>A (p.Thr3338Asn)
c.5765C>A (p.Thr1922Asn)
c.8993C>A (p.Thr2998Asn)
8g.99853522C>GCA371780856VPS13Bc.10208C>G (p.Thr3403Ser)
n.10278C>G
c.*5890C>G (n.*5890C>G)
c.10133C>G (p.Thr3378Ser)
c.10205C>G (p.Thr3402Ser)
c.10130C>G (p.Thr3377Ser)
c.9830C>G (p.Thr3277Ser)
c.7094C>G (p.Thr2365Ser)
c.5987C>G (p.Thr1996Ser)
c.10013C>G (p.Thr3338Ser)
c.5765C>G (p.Thr1922Ser)
c.8993C>G (p.Thr2998Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.99853522C>TCA371780857VPS13Bc.10208C>T (p.Thr3403Ile)
n.10278C>T
c.*5890C>T (n.*5890C>T)
c.10133C>T (p.Thr3378Ile)
c.10205C>T (p.Thr3402Ile)
c.10130C>T (p.Thr3377Ile)
c.9830C>T (p.Thr3277Ile)
c.7094C>T (p.Thr2365Ile)
c.5987C>T (p.Thr1996Ile)
c.10013C>T (p.Thr3338Ile)
c.5765C>T (p.Thr1922Ile)
c.8993C>T (p.Thr2998Ile)
 ClinVar gnomAD v4
8g.99853523C>ACA462458061VPS13Bc.10209C>A (p.Thr3403=)
n.10279C>A
c.*5891C>A (n.*5891C>A)
c.10134C>A (p.Thr3378=)
c.10206C>A (p.Thr3402=)
c.10131C>A (p.Thr3377=)
c.9831C>A (p.Thr3277=)
c.7095C>A (p.Thr2365=)
c.5988C>A (p.Thr1996=)
c.10014C>A (p.Thr3338=)
c.5766C>A (p.Thr1922=)
c.8994C>A (p.Thr2998=)
8g.99853523C>GCA462458059VPS13Bc.10209C>G (p.Thr3403=)
n.10279C>G
c.*5891C>G (n.*5891C>G)
c.10134C>G (p.Thr3378=)
c.10206C>G (p.Thr3402=)
c.10131C>G (p.Thr3377=)
c.9831C>G (p.Thr3277=)
c.7095C>G (p.Thr2365=)
c.5988C>G (p.Thr1996=)
c.10014C>G (p.Thr3338=)
c.5766C>G (p.Thr1922=)
c.8994C>G (p.Thr2998=)
8g.99853523C>TCA462458060VPS13Bc.10209C>T (p.Thr3403=)
n.10279C>T
c.*5891C>T (n.*5891C>T)
c.10134C>T (p.Thr3378=)
c.10206C>T (p.Thr3402=)
c.10131C>T (p.Thr3377=)
c.9831C>T (p.Thr3277=)
c.7095C>T (p.Thr2365=)
c.5988C>T (p.Thr1996=)
c.10014C>T (p.Thr3338=)
c.5766C>T (p.Thr1922=)
c.8994C>T (p.Thr2998=)
 ClinVar
8g.99853524C>ACA371780858VPS13Bc.10210C>A (p.His3404Asn)
n.10280C>A
c.*5892C>A (n.*5892C>A)
c.10135C>A (p.His3379Asn)
c.10207C>A (p.His3403Asn)
c.10132C>A (p.His3378Asn)
c.9832C>A (p.His3278Asn)
c.7096C>A (p.His2366Asn)
c.5989C>A (p.His1997Asn)
c.10015C>A (p.His3339Asn)
c.5767C>A (p.His1923Asn)
c.8995C>A (p.His2999Asn)
8g.99853524C>GCA182314027VPS13Bc.10210C>G (p.His3404Asp)
n.10280C>G
c.*5892C>G (n.*5892C>G)
c.10135C>G (p.His3379Asp)
c.10207C>G (p.His3403Asp)
c.10132C>G (p.His3378Asp)
c.9832C>G (p.His3278Asp)
c.7096C>G (p.His2366Asp)
c.5989C>G (p.His1997Asp)
c.10015C>G (p.His3339Asp)
c.5767C>G (p.His1923Asp)
c.8995C>G (p.His2999Asp)
 dbSNP
8g.99853524C>TCA4824899VPS13Bc.10210C>T (p.His3404Tyr)
n.10280C>T
c.*5892C>T (n.*5892C>T)
c.10135C>T (p.His3379Tyr)
c.10207C>T (p.His3403Tyr)
c.10132C>T (p.His3378Tyr)
c.9832C>T (p.His3278Tyr)
c.7096C>T (p.His2366Tyr)
c.5989C>T (p.His1997Tyr)
c.10015C>T (p.His3339Tyr)
c.5767C>T (p.His1923Tyr)
c.8995C>T (p.His2999Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853525A>CCA371780861VPS13Bc.10211A>C (p.His3404Pro)
n.10281A>C
c.*5893A>C (n.*5893A>C)
c.10136A>C (p.His3379Pro)
c.10208A>C (p.His3403Pro)
c.10133A>C (p.His3378Pro)
c.9833A>C (p.His3278Pro)
c.7097A>C (p.His2366Pro)
c.5990A>C (p.His1997Pro)
c.10016A>C (p.His3339Pro)
c.5768A>C (p.His1923Pro)
c.8996A>C (p.His2999Pro)
8g.99853525A>GCA371780860VPS13Bc.10211A>G (p.His3404Arg)
n.10281A>G
c.*5893A>G (n.*5893A>G)
c.10136A>G (p.His3379Arg)
c.10208A>G (p.His3403Arg)
c.10133A>G (p.His3378Arg)
c.9833A>G (p.His3278Arg)
c.7097A>G (p.His2366Arg)
c.5990A>G (p.His1997Arg)
c.10016A>G (p.His3339Arg)
c.5768A>G (p.His1923Arg)
c.8996A>G (p.His2999Arg)
8g.99853525A>TCA371780859VPS13Bc.10211A>T (p.His3404Leu)
n.10281A>T
c.*5893A>T (n.*5893A>T)
c.10136A>T (p.His3379Leu)
c.10208A>T (p.His3403Leu)
c.10133A>T (p.His3378Leu)
c.9833A>T (p.His3278Leu)
c.7097A>T (p.His2366Leu)
c.5990A>T (p.His1997Leu)
c.10016A>T (p.His3339Leu)
c.5768A>T (p.His1923Leu)
c.8996A>T (p.His2999Leu)
8g.99853526C>ACA371780862VPS13Bc.10212C>A (p.His3404Gln)
n.10282C>A
c.*5894C>A (n.*5894C>A)
c.10137C>A (p.His3379Gln)
c.10209C>A (p.His3403Gln)
c.10134C>A (p.His3378Gln)
c.9834C>A (p.His3278Gln)
c.7098C>A (p.His2366Gln)
c.5991C>A (p.His1997Gln)
c.10017C>A (p.His3339Gln)
c.5769C>A (p.His1923Gln)
c.8997C>A (p.His2999Gln)
8g.99853526C>GCA371780863VPS13Bc.10212C>G (p.His3404Gln)
n.10282C>G
c.*5894C>G (n.*5894C>G)
c.10137C>G (p.His3379Gln)
c.10209C>G (p.His3403Gln)
c.10134C>G (p.His3378Gln)
c.9834C>G (p.His3278Gln)
c.7098C>G (p.His2366Gln)
c.5991C>G (p.His1997Gln)
c.10017C>G (p.His3339Gln)
c.5769C>G (p.His1923Gln)
c.8997C>G (p.His2999Gln)
8g.99853526C>TCA462458062VPS13Bc.10212C>T (p.His3404=)
n.10282C>T
c.*5894C>T (n.*5894C>T)
c.10137C>T (p.His3379=)
c.10209C>T (p.His3403=)
c.10134C>T (p.His3378=)
c.9834C>T (p.His3278=)
c.7098C>T (p.His2366=)
c.5991C>T (p.His1997=)
c.10017C>T (p.His3339=)
c.5769C>T (p.His1923=)
c.8997C>T (p.His2999=)
 ClinVar dbSNP
8g.99853527C>ACA371780864VPS13Bc.10213C>A (p.His3405Asn)
n.10283C>A
c.*5895C>A (n.*5895C>A)
c.10138C>A (p.His3380Asn)
c.10210C>A (p.His3404Asn)
c.10135C>A (p.His3379Asn)
c.9835C>A (p.His3279Asn)
c.7099C>A (p.His2367Asn)
c.5992C>A (p.His1998Asn)
c.10018C>A (p.His3340Asn)
c.5770C>A (p.His1924Asn)
c.8998C>A (p.His3000Asn)
 ClinVar
8g.99853527C>GCA371780866VPS13Bc.10213C>G (p.His3405Asp)
n.10283C>G
c.*5895C>G (n.*5895C>G)
c.10138C>G (p.His3380Asp)
c.10210C>G (p.His3404Asp)
c.10135C>G (p.His3379Asp)
c.9835C>G (p.His3279Asp)
c.7099C>G (p.His2367Asp)
c.5992C>G (p.His1998Asp)
c.10018C>G (p.His3340Asp)
c.5770C>G (p.His1924Asp)
c.8998C>G (p.His3000Asp)
8g.99853527C>TCA371780865VPS13Bc.10213C>T (p.His3405Tyr)
n.10283C>T
c.*5895C>T (n.*5895C>T)
c.10138C>T (p.His3380Tyr)
c.10210C>T (p.His3404Tyr)
c.10135C>T (p.His3379Tyr)
c.9835C>T (p.His3279Tyr)
c.7099C>T (p.His2367Tyr)
c.5992C>T (p.His1998Tyr)
c.10018C>T (p.His3340Tyr)
c.5770C>T (p.His1924Tyr)
c.8998C>T (p.His3000Tyr)
8g.99853527_99853528insCAAACACACCCAACCA2781481186VPS13Bc.10213_10214insCAAACACACCCAAC (p.His3405ProfsTer13)
n.10283_10284insCAAACACACCCAAC
c.*5895_*5896insCAAACACACCCAAC (n.*5895_*5896insCAAACACACCCAAC)
c.10138_10139insCAAACACACCCAAC (p.His3380ProfsTer13)
c.10210_10211insCAAACACACCCAAC (p.His3404ProfsTer13)
c.10135_10136insCAAACACACCCAAC (p.His3379ProfsTer13)
c.9835_9836insCAAACACACCCAAC (p.His3279ProfsTer13)
c.7099_7100insCAAACACACCCAAC (p.His2367ProfsTer13)
c.5992_5993insCAAACACACCCAAC (p.His1998ProfsTer13)
c.10018_10019insCAAACACACCCAAC (p.His3340ProfsTer13)
c.5770_5771insCAAACACACCCAAC (p.His1924ProfsTer13)
c.8998_8999insCAAACACACCCAAC (p.His3000ProfsTer13)
8g.99853528A>CCA371780867VPS13Bc.10214A>C (p.His3405Pro)
n.10284A>C
c.*5896A>C (n.*5896A>C)
c.10139A>C (p.His3380Pro)
c.10211A>C (p.His3404Pro)
c.10136A>C (p.His3379Pro)
c.9836A>C (p.His3279Pro)
c.7100A>C (p.His2367Pro)
c.5993A>C (p.His1998Pro)
c.10019A>C (p.His3340Pro)
c.5771A>C (p.His1924Pro)
c.8999A>C (p.His3000Pro)
8g.99853528A>GCA182314028VPS13Bc.10214A>G (p.His3405Arg)
n.10284A>G
c.*5896A>G (n.*5896A>G)
c.10139A>G (p.His3380Arg)
c.10211A>G (p.His3404Arg)
c.10136A>G (p.His3379Arg)
c.9836A>G (p.His3279Arg)
c.7100A>G (p.His2367Arg)
c.5993A>G (p.His1998Arg)
c.10019A>G (p.His3340Arg)
c.5771A>G (p.His1924Arg)
c.8999A>G (p.His3000Arg)
 ClinVar dbSNP gnomAD v4
8g.99853528A>TCA371780868VPS13Bc.10214A>T (p.His3405Leu)
n.10284A>T
c.*5896A>T (n.*5896A>T)
c.10139A>T (p.His3380Leu)
c.10211A>T (p.His3404Leu)
c.10136A>T (p.His3379Leu)
c.9836A>T (p.His3279Leu)
c.7100A>T (p.His2367Leu)
c.5993A>T (p.His1998Leu)
c.10019A>T (p.His3340Leu)
c.5771A>T (p.His1924Leu)
c.8999A>T (p.His3000Leu)
8g.99853528_99853529insAACACACCCA2781481192VPS13Bc.10214_10215insAACACACC (p.His3405GlnfsTer11)
n.10284_10285insAACACACC
c.*5896_*5897insAACACACC (n.*5896_*5897insAACACACC)
c.10139_10140insAACACACC (p.His3380GlnfsTer11)
c.10211_10212insAACACACC (p.His3404GlnfsTer11)
c.10136_10137insAACACACC (p.His3379GlnfsTer11)
c.9836_9837insAACACACC (p.His3279GlnfsTer11)
c.7100_7101insAACACACC (p.His2367GlnfsTer11)
c.5993_5994insAACACACC (p.His1998GlnfsTer11)
c.10019_10020insAACACACC (p.His3340GlnfsTer11)
c.5771_5772insAACACACC (p.His1924GlnfsTer11)
c.8999_9000insAACACACC (p.His3000GlnfsTer11)
8g.99853529C>ACA371780869VPS13Bc.10215C>A (p.His3405Gln)
n.10285C>A
c.*5897C>A (n.*5897C>A)
c.10140C>A (p.His3380Gln)
c.10212C>A (p.His3404Gln)
c.10137C>A (p.His3379Gln)
c.9837C>A (p.His3279Gln)
c.7101C>A (p.His2367Gln)
c.5994C>A (p.His1998Gln)
c.10020C>A (p.His3340Gln)
c.5772C>A (p.His1924Gln)
c.9000C>A (p.His3000Gln)
 gnomAD v4
8g.99853529C>GCA371780870VPS13Bc.10215C>G (p.His3405Gln)
n.10285C>G
c.*5897C>G (n.*5897C>G)
c.10140C>G (p.His3380Gln)
c.10212C>G (p.His3404Gln)
c.10137C>G (p.His3379Gln)
c.9837C>G (p.His3279Gln)
c.7101C>G (p.His2367Gln)
c.5994C>G (p.His1998Gln)
c.10020C>G (p.His3340Gln)
c.5772C>G (p.His1924Gln)
c.9000C>G (p.His3000Gln)
 ClinVar dbSNP gnomAD v4
8g.99853529C>TCA462458063VPS13Bc.10215C>T (p.His3405=)
n.10285C>T
c.*5897C>T (n.*5897C>T)
c.10140C>T (p.His3380=)
c.10212C>T (p.His3404=)
c.10137C>T (p.His3379=)
c.9837C>T (p.His3279=)
c.7101C>T (p.His2367=)
c.5994C>T (p.His1998=)
c.10020C>T (p.His3340=)
c.5772C>T (p.His1924=)
c.9000C>T (p.His3000=)
 dbSNP gnomAD v2 gnomAD v4
8g.99853530A>CCA371780871VPS13Bc.10216A>C (p.Lys3406Gln)
n.10286A>C
c.*5898A>C (n.*5898A>C)
c.10141A>C (p.Lys3381Gln)
c.10213A>C (p.Lys3405Gln)
c.10138A>C (p.Lys3380Gln)
c.9838A>C (p.Lys3280Gln)
c.7102A>C (p.Lys2368Gln)
c.5995A>C (p.Lys1999Gln)
c.10021A>C (p.Lys3341Gln)
c.5773A>C (p.Lys1925Gln)
c.9001A>C (p.Lys3001Gln)
8g.99853530A>GCA371780872VPS13Bc.10216A>G (p.Lys3406Glu)
n.10286A>G
c.*5898A>G (n.*5898A>G)
c.10141A>G (p.Lys3381Glu)
c.10213A>G (p.Lys3405Glu)
c.10138A>G (p.Lys3380Glu)
c.9838A>G (p.Lys3280Glu)
c.7102A>G (p.Lys2368Glu)
c.5995A>G (p.Lys1999Glu)
c.10021A>G (p.Lys3341Glu)
c.5773A>G (p.Lys1925Glu)
c.9001A>G (p.Lys3001Glu)
8g.99853530A>TCA371780873VPS13Bc.10216A>T (p.Lys3406Ter)
n.10286A>T
c.*5898A>T (n.*5898A>T)
c.10141A>T (p.Lys3381Ter)
c.10213A>T (p.Lys3405Ter)
c.10138A>T (p.Lys3380Ter)
c.9838A>T (p.Lys3280Ter)
c.7102A>T (p.Lys2368Ter)
c.5995A>T (p.Lys1999Ter)
c.10021A>T (p.Lys3341Ter)
c.5773A>T (p.Lys1925Ter)
c.9001A>T (p.Lys3001Ter)
8g.99853531A>CCA182314033VPS13Bc.10217A>C (p.Lys3406Thr)
n.10287A>C
c.*5899A>C (n.*5899A>C)
c.10142A>C (p.Lys3381Thr)
c.10214A>C (p.Lys3405Thr)
c.10139A>C (p.Lys3380Thr)
c.9839A>C (p.Lys3280Thr)
c.7103A>C (p.Lys2368Thr)
c.5996A>C (p.Lys1999Thr)
c.10022A>C (p.Lys3341Thr)
c.5774A>C (p.Lys1925Thr)
c.9002A>C (p.Lys3001Thr)
 dbSNP
8g.99853531A>GCA371780875VPS13Bc.10217A>G (p.Lys3406Arg)
n.10287A>G
c.*5899A>G (n.*5899A>G)
c.10142A>G (p.Lys3381Arg)
c.10214A>G (p.Lys3405Arg)
c.10139A>G (p.Lys3380Arg)
c.9839A>G (p.Lys3280Arg)
c.7103A>G (p.Lys2368Arg)
c.5996A>G (p.Lys1999Arg)
c.10022A>G (p.Lys3341Arg)
c.5774A>G (p.Lys1925Arg)
c.9002A>G (p.Lys3001Arg)
8g.99853531A>TCA371780874VPS13Bc.10217A>T (p.Lys3406Ile)
n.10287A>T
c.*5899A>T (n.*5899A>T)
c.10142A>T (p.Lys3381Ile)
c.10214A>T (p.Lys3405Ile)
c.10139A>T (p.Lys3380Ile)
c.9839A>T (p.Lys3280Ile)
c.7103A>T (p.Lys2368Ile)
c.5996A>T (p.Lys1999Ile)
c.10022A>T (p.Lys3341Ile)
c.5774A>T (p.Lys1925Ile)
c.9002A>T (p.Lys3001Ile)
8g.99853532A>CCA371780876VPS13Bc.10218A>C (p.Lys3406Asn)
n.10288A>C
c.*5900A>C (n.*5900A>C)
c.10143A>C (p.Lys3381Asn)
c.10215A>C (p.Lys3405Asn)
c.10140A>C (p.Lys3380Asn)
c.9840A>C (p.Lys3280Asn)
c.7104A>C (p.Lys2368Asn)
c.5997A>C (p.Lys1999Asn)
c.10023A>C (p.Lys3341Asn)
c.5775A>C (p.Lys1925Asn)
c.9003A>C (p.Lys3001Asn)
8g.99853532A>GCA462458064VPS13Bc.10218A>G (p.Lys3406=)
n.10288A>G
c.*5900A>G (n.*5900A>G)
c.10143A>G (p.Lys3381=)
c.10215A>G (p.Lys3405=)
c.10140A>G (p.Lys3380=)
c.9840A>G (p.Lys3280=)
c.7104A>G (p.Lys2368=)
c.5997A>G (p.Lys1999=)
c.10023A>G (p.Lys3341=)
c.5775A>G (p.Lys1925=)
c.9003A>G (p.Lys3001=)
8g.99853532A>TCA371780877VPS13Bc.10218A>T (p.Lys3406Asn)
n.10288A>T
c.*5900A>T (n.*5900A>T)
c.10143A>T (p.Lys3381Asn)
c.10215A>T (p.Lys3405Asn)
c.10140A>T (p.Lys3380Asn)
c.9840A>T (p.Lys3280Asn)
c.7104A>T (p.Lys2368Asn)
c.5997A>T (p.Lys1999Asn)
c.10023A>T (p.Lys3341Asn)
c.5775A>T (p.Lys1925Asn)
c.9003A>T (p.Lys3001Asn)
8g.99853533delCA2497231563VPS13Bc.10219del (p.Ala3407HisfsTer6)
n.10289del
c.*5901del (n.*5901del)
c.10144del (p.Ala3382HisfsTer6)
c.10216del (p.Ala3406HisfsTer6)
c.10141del (p.Ala3381HisfsTer6)
c.9841del (p.Ala3281HisfsTer6)
c.7105del (p.Ala2369HisfsTer6)
c.5998del (p.Ala2000HisfsTer6)
c.10024del (p.Ala3342HisfsTer6)
c.5776del (p.Ala1926HisfsTer6)
c.9004del (p.Ala3002HisfsTer6)
 dbSNP
8g.99853533G>ACA371780878VPS13Bc.10219G>A (p.Ala3407Thr)
n.10289G>A
c.*5901G>A (n.*5901G>A)
c.10144G>A (p.Ala3382Thr)
c.10216G>A (p.Ala3406Thr)
c.10141G>A (p.Ala3381Thr)
c.9841G>A (p.Ala3281Thr)
c.7105G>A (p.Ala2369Thr)
c.5998G>A (p.Ala2000Thr)
c.10024G>A (p.Ala3342Thr)
c.5776G>A (p.Ala1926Thr)
c.9004G>A (p.Ala3002Thr)
 gnomAD v4
8g.99853533G>CCA371780879VPS13Bc.10219G>C (p.Ala3407Pro)
n.10289G>C
c.*5901G>C (n.*5901G>C)
c.10144G>C (p.Ala3382Pro)
c.10216G>C (p.Ala3406Pro)
c.10141G>C (p.Ala3381Pro)
c.9841G>C (p.Ala3281Pro)
c.7105G>C (p.Ala2369Pro)
c.5998G>C (p.Ala2000Pro)
c.10024G>C (p.Ala3342Pro)
c.5776G>C (p.Ala1926Pro)
c.9004G>C (p.Ala3002Pro)
8g.99853533G>TCA371780880VPS13Bc.10219G>T (p.Ala3407Ser)
n.10289G>T
c.*5901G>T (n.*5901G>T)
c.10144G>T (p.Ala3382Ser)
c.10216G>T (p.Ala3406Ser)
c.10141G>T (p.Ala3381Ser)
c.9841G>T (p.Ala3281Ser)
c.7105G>T (p.Ala2369Ser)
c.5998G>T (p.Ala2000Ser)
c.10024G>T (p.Ala3342Ser)
c.5776G>T (p.Ala1926Ser)
c.9004G>T (p.Ala3002Ser)
8g.99853534C>ACA371780881VPS13Bc.10220C>A (p.Ala3407Glu)
n.10290C>A
c.*5902C>A (n.*5902C>A)
c.10145C>A (p.Ala3382Glu)
c.10217C>A (p.Ala3406Glu)
c.10142C>A (p.Ala3381Glu)
c.9842C>A (p.Ala3281Glu)
c.7106C>A (p.Ala2369Glu)
c.5999C>A (p.Ala2000Glu)
c.10025C>A (p.Ala3342Glu)
c.5777C>A (p.Ala1926Glu)
c.9005C>A (p.Ala3002Glu)
8g.99853534C>GCA371780882VPS13Bc.10220C>G (p.Ala3407Gly)
n.10290C>G
c.*5902C>G (n.*5902C>G)
c.10145C>G (p.Ala3382Gly)
c.10217C>G (p.Ala3406Gly)
c.10142C>G (p.Ala3381Gly)
c.9842C>G (p.Ala3281Gly)
c.7106C>G (p.Ala2369Gly)
c.5999C>G (p.Ala2000Gly)
c.10025C>G (p.Ala3342Gly)
c.5777C>G (p.Ala1926Gly)
c.9005C>G (p.Ala3002Gly)
8g.99853534C>TCA4824900VPS13Bc.10220C>T (p.Ala3407Val)
n.10290C>T
c.*5902C>T (n.*5902C>T)
c.10145C>T (p.Ala3382Val)
c.10217C>T (p.Ala3406Val)
c.10142C>T (p.Ala3381Val)
c.9842C>T (p.Ala3281Val)
c.7106C>T (p.Ala2369Val)
c.5999C>T (p.Ala2000Val)
c.10025C>T (p.Ala3342Val)
c.5777C>T (p.Ala1926Val)
c.9005C>T (p.Ala3002Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853536_99853538delCA2688071857VPS13Bc.10222_10224del (p.Ser3408del)
n.10292_10294del
c.*5904_*5906del (n.*5904_*5906del)
c.10147_10149del (p.Ser3383del)
c.10219_10221del (p.Ser3407del)
c.10144_10146del (p.Ser3382del)
c.9844_9846del (p.Ser3282del)
c.7108_7110del (p.Ser2370del)
c.6001_6003del (p.Ser2001del)
c.10027_10029del (p.Ser3343del)
c.5779_5781del (p.Ser1927del)
c.9007_9009del (p.Ser3003del)
 gnomAD v4
8g.99853535A>CCA462458065VPS13Bc.10221A>C (p.Ala3407=)
n.10291A>C
c.*5903A>C (n.*5903A>C)
c.10146A>C (p.Ala3382=)
c.10218A>C (p.Ala3406=)
c.10143A>C (p.Ala3381=)
c.9843A>C (p.Ala3281=)
c.7107A>C (p.Ala2369=)
c.6000A>C (p.Ala2000=)
c.10026A>C (p.Ala3342=)
c.5778A>C (p.Ala1926=)
c.9006A>C (p.Ala3002=)
8g.99853535A>GCA462458066VPS13Bc.10221A>G (p.Ala3407=)
n.10291A>G
c.*5903A>G (n.*5903A>G)
c.10146A>G (p.Ala3382=)
c.10218A>G (p.Ala3406=)
c.10143A>G (p.Ala3381=)
c.9843A>G (p.Ala3281=)
c.7107A>G (p.Ala2369=)
c.6000A>G (p.Ala2000=)
c.10026A>G (p.Ala3342=)
c.5778A>G (p.Ala1926=)
c.9006A>G (p.Ala3002=)
8g.99853535A>TCA462458067VPS13Bc.10221A>T (p.Ala3407=)
n.10291A>T
c.*5903A>T (n.*5903A>T)
c.10146A>T (p.Ala3382=)
c.10218A>T (p.Ala3406=)
c.10143A>T (p.Ala3381=)
c.9843A>T (p.Ala3281=)
c.7107A>T (p.Ala2369=)
c.6000A>T (p.Ala2000=)
c.10026A>T (p.Ala3342=)
c.5778A>T (p.Ala1926=)
c.9006A>T (p.Ala3002=)
8g.99853536T>ACA371780883VPS13Bc.10222T>A (p.Ser3408Thr)
n.10292T>A
c.*5904T>A (n.*5904T>A)
c.10147T>A (p.Ser3383Thr)
c.10219T>A (p.Ser3407Thr)
c.10144T>A (p.Ser3382Thr)
c.9844T>A (p.Ser3282Thr)
c.7108T>A (p.Ser2370Thr)
c.6001T>A (p.Ser2001Thr)
c.10027T>A (p.Ser3343Thr)
c.5779T>A (p.Ser1927Thr)
c.9007T>A (p.Ser3003Thr)
8g.99853536T>CCA4824901VPS13Bc.10222T>C (p.Ser3408Pro)
n.10292T>C
c.*5904T>C (n.*5904T>C)
c.10147T>C (p.Ser3383Pro)
c.10219T>C (p.Ser3407Pro)
c.10144T>C (p.Ser3382Pro)
c.9844T>C (p.Ser3282Pro)
c.7108T>C (p.Ser2370Pro)
c.6001T>C (p.Ser2001Pro)
c.10027T>C (p.Ser3343Pro)
c.5779T>C (p.Ser1927Pro)
c.9007T>C (p.Ser3003Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853536T>GCA371780884VPS13Bc.10222T>G (p.Ser3408Ala)
n.10292T>G
c.*5904T>G (n.*5904T>G)
c.10147T>G (p.Ser3383Ala)
c.10219T>G (p.Ser3407Ala)
c.10144T>G (p.Ser3382Ala)
c.9844T>G (p.Ser3282Ala)
c.7108T>G (p.Ser2370Ala)
c.6001T>G (p.Ser2001Ala)
c.10027T>G (p.Ser3343Ala)
c.5779T>G (p.Ser1927Ala)
c.9007T>G (p.Ser3003Ala)
8g.99853537C>ACA371780885VPS13Bc.10223C>A (p.Ser3408Ter)
n.10293C>A
c.*5905C>A (n.*5905C>A)
c.10148C>A (p.Ser3383Ter)
c.10220C>A (p.Ser3407Ter)
c.10145C>A (p.Ser3382Ter)
c.9845C>A (p.Ser3282Ter)
c.7109C>A (p.Ser2370Ter)
c.6002C>A (p.Ser2001Ter)
c.10028C>A (p.Ser3343Ter)
c.5780C>A (p.Ser1927Ter)
c.9008C>A (p.Ser3003Ter)
8g.99853537C>GCA182314039VPS13Bc.10223C>G (p.Ser3408Ter)
n.10293C>G
c.*5905C>G (n.*5905C>G)
c.10148C>G (p.Ser3383Ter)
c.10220C>G (p.Ser3407Ter)
c.10145C>G (p.Ser3382Ter)
c.9845C>G (p.Ser3282Ter)
c.7109C>G (p.Ser2370Ter)
c.6002C>G (p.Ser2001Ter)
c.10028C>G (p.Ser3343Ter)
c.5780C>G (p.Ser1927Ter)
c.9008C>G (p.Ser3003Ter)
 ClinVar dbSNP gnomAD v4
8g.99853537C>TCA371780886VPS13Bc.10223C>T (p.Ser3408Leu)
n.10293C>T
c.*5905C>T (n.*5905C>T)
c.10148C>T (p.Ser3383Leu)
c.10220C>T (p.Ser3407Leu)
c.10145C>T (p.Ser3382Leu)
c.9845C>T (p.Ser3282Leu)
c.7109C>T (p.Ser2370Leu)
c.6002C>T (p.Ser2001Leu)
c.10028C>T (p.Ser3343Leu)
c.5780C>T (p.Ser1927Leu)
c.9008C>T (p.Ser3003Leu)
8g.99853538A>CCA462458068VPS13Bc.10224A>C (p.Ser3408=)
n.10294A>C
c.*5906A>C (n.*5906A>C)
c.10149A>C (p.Ser3383=)
c.10221A>C (p.Ser3407=)
c.10146A>C (p.Ser3382=)
c.9846A>C (p.Ser3282=)
c.7110A>C (p.Ser2370=)
c.6003A>C (p.Ser2001=)
c.10029A>C (p.Ser3343=)
c.5781A>C (p.Ser1927=)
c.9009A>C (p.Ser3003=)
8g.99853538A>GCA462458069VPS13Bc.10224A>G (p.Ser3408=)
n.10294A>G
c.*5906A>G (n.*5906A>G)
c.10149A>G (p.Ser3383=)
c.10221A>G (p.Ser3407=)
c.10146A>G (p.Ser3382=)
c.9846A>G (p.Ser3282=)
c.7110A>G (p.Ser2370=)
c.6003A>G (p.Ser2001=)
c.10029A>G (p.Ser3343=)
c.5781A>G (p.Ser1927=)
c.9009A>G (p.Ser3003=)
8g.99853538A>TCA462458070VPS13Bc.10224A>T (p.Ser3408=)
n.10294A>T
c.*5906A>T (n.*5906A>T)
c.10149A>T (p.Ser3383=)
c.10221A>T (p.Ser3407=)
c.10146A>T (p.Ser3382=)
c.9846A>T (p.Ser3282=)
c.7110A>T (p.Ser2370=)
c.6003A>T (p.Ser2001=)
c.10029A>T (p.Ser3343=)
c.5781A>T (p.Ser1927=)
c.9009A>T (p.Ser3003=)
 ClinVar dbSNP gnomAD v4
8g.99853539G>ACA371780888VPS13Bc.10225G>A (p.Ala3409Thr)
n.10295G>A
c.*5907G>A (n.*5907G>A)
c.10150G>A (p.Ala3384Thr)
c.10222G>A (p.Ala3408Thr)
c.10147G>A (p.Ala3383Thr)
c.9847G>A (p.Ala3283Thr)
c.7111G>A (p.Ala2371Thr)
c.6004G>A (p.Ala2002Thr)
c.10030G>A (p.Ala3344Thr)
c.5782G>A (p.Ala1928Thr)
c.9010G>A (p.Ala3004Thr)
8g.99853539G>CCA371780889VPS13Bc.10225G>C (p.Ala3409Pro)
n.10295G>C
c.*5907G>C (n.*5907G>C)
c.10150G>C (p.Ala3384Pro)
c.10222G>C (p.Ala3408Pro)
c.10147G>C (p.Ala3383Pro)
c.9847G>C (p.Ala3283Pro)
c.7111G>C (p.Ala2371Pro)
c.6004G>C (p.Ala2002Pro)
c.10030G>C (p.Ala3344Pro)
c.5782G>C (p.Ala1928Pro)
c.9010G>C (p.Ala3004Pro)
8g.99853539G>TCA371780890VPS13Bc.10225G>T (p.Ala3409Ser)
n.10295G>T
c.*5907G>T (n.*5907G>T)
c.10150G>T (p.Ala3384Ser)
c.10222G>T (p.Ala3408Ser)
c.10147G>T (p.Ala3383Ser)
c.9847G>T (p.Ala3283Ser)
c.7111G>T (p.Ala2371Ser)
c.6004G>T (p.Ala2002Ser)
c.10030G>T (p.Ala3344Ser)
c.5782G>T (p.Ala1928Ser)
c.9010G>T (p.Ala3004Ser)
 dbSNP gnomAD v4
8g.99853540C>ACA371780891VPS13Bc.10226C>A (p.Ala3409Asp)
n.10296C>A
c.*5908C>A (n.*5908C>A)
c.10151C>A (p.Ala3384Asp)
c.10223C>A (p.Ala3408Asp)
c.10148C>A (p.Ala3383Asp)
c.9848C>A (p.Ala3283Asp)
c.7112C>A (p.Ala2371Asp)
c.6005C>A (p.Ala2002Asp)
c.10031C>A (p.Ala3344Asp)
c.5783C>A (p.Ala1928Asp)
c.9011C>A (p.Ala3004Asp)
8g.99853540C>GCA371780892VPS13Bc.10226C>G (p.Ala3409Gly)
n.10296C>G
c.*5908C>G (n.*5908C>G)
c.10151C>G (p.Ala3384Gly)
c.10223C>G (p.Ala3408Gly)
c.10148C>G (p.Ala3383Gly)
c.9848C>G (p.Ala3283Gly)
c.7112C>G (p.Ala2371Gly)
c.6005C>G (p.Ala2002Gly)
c.10031C>G (p.Ala3344Gly)
c.5783C>G (p.Ala1928Gly)
c.9011C>G (p.Ala3004Gly)
8g.99853540C>TCA371780893VPS13Bc.10226C>T (p.Ala3409Val)
n.10296C>T
c.*5908C>T (n.*5908C>T)
c.10151C>T (p.Ala3384Val)
c.10223C>T (p.Ala3408Val)
c.10148C>T (p.Ala3383Val)
c.9848C>T (p.Ala3283Val)
c.7112C>T (p.Ala2371Val)
c.6005C>T (p.Ala2002Val)
c.10031C>T (p.Ala3344Val)
c.5783C>T (p.Ala1928Val)
c.9011C>T (p.Ala3004Val)
8g.99853541T>ACA462458071VPS13Bc.10227T>A (p.Ala3409=)
n.10297T>A
c.*5909T>A (n.*5909T>A)
c.10152T>A (p.Ala3384=)
c.10224T>A (p.Ala3408=)
c.10149T>A (p.Ala3383=)
c.9849T>A (p.Ala3283=)
c.7113T>A (p.Ala2371=)
c.6006T>A (p.Ala2002=)
c.10032T>A (p.Ala3344=)
c.5784T>A (p.Ala1928=)
c.9012T>A (p.Ala3004=)
8g.99853541T>CCA462458072VPS13Bc.10227T>C (p.Ala3409=)
n.10297T>C
c.*5909T>C (n.*5909T>C)
c.10152T>C (p.Ala3384=)
c.10224T>C (p.Ala3408=)
c.10149T>C (p.Ala3383=)
c.9849T>C (p.Ala3283=)
c.7113T>C (p.Ala2371=)
c.6006T>C (p.Ala2002=)
c.10032T>C (p.Ala3344=)
c.5784T>C (p.Ala1928=)
c.9012T>C (p.Ala3004=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99853541T>GCA4824902VPS13Bc.10227T>G (p.Ala3409=)
n.10297T>G
c.*5909T>G (n.*5909T>G)
c.10152T>G (p.Ala3384=)
c.10224T>G (p.Ala3408=)
c.10149T>G (p.Ala3383=)
c.9849T>G (p.Ala3283=)
c.7113T>G (p.Ala2371=)
c.6006T>G (p.Ala2002=)
c.10032T>G (p.Ala3344=)
c.5784T>G (p.Ala1928=)
c.9012T>G (p.Ala3004=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853542G>ACA371780894VPS13Bc.10228G>A (p.Glu3410Lys)
n.10298G>A
c.*5910G>A (n.*5910G>A)
c.10153G>A (p.Glu3385Lys)
c.10225G>A (p.Glu3409Lys)
c.10150G>A (p.Glu3384Lys)
c.9850G>A (p.Glu3284Lys)
c.7114G>A (p.Glu2372Lys)
c.6007G>A (p.Glu2003Lys)
c.10033G>A (p.Glu3345Lys)
c.5785G>A (p.Glu1929Lys)
c.9013G>A (p.Glu3005Lys)
8g.99853542G>CCA371780896VPS13Bc.10228G>C (p.Glu3410Gln)
n.10298G>C
c.*5910G>C (n.*5910G>C)
c.10153G>C (p.Glu3385Gln)
c.10225G>C (p.Glu3409Gln)
c.10150G>C (p.Glu3384Gln)
c.9850G>C (p.Glu3284Gln)
c.7114G>C (p.Glu2372Gln)
c.6007G>C (p.Glu2003Gln)
c.10033G>C (p.Glu3345Gln)
c.5785G>C (p.Glu1929Gln)
c.9013G>C (p.Glu3005Gln)
8g.99853542G>TCA371780895VPS13Bc.10228G>T (p.Glu3410Ter)
n.10298G>T
c.*5910G>T (n.*5910G>T)
c.10153G>T (p.Glu3385Ter)
c.10225G>T (p.Glu3409Ter)
c.10150G>T (p.Glu3384Ter)
c.9850G>T (p.Glu3284Ter)
c.7114G>T (p.Glu2372Ter)
c.6007G>T (p.Glu2003Ter)
c.10033G>T (p.Glu3345Ter)
c.5785G>T (p.Glu1929Ter)
c.9013G>T (p.Glu3005Ter)
8g.99853543A>CCA371780897VPS13Bc.10229A>C (p.Glu3410Ala)
n.10299A>C
c.*5911A>C (n.*5911A>C)
c.10154A>C (p.Glu3385Ala)
c.10226A>C (p.Glu3409Ala)
c.10151A>C (p.Glu3384Ala)
c.9851A>C (p.Glu3284Ala)
c.7115A>C (p.Glu2372Ala)
c.6008A>C (p.Glu2003Ala)
c.10034A>C (p.Glu3345Ala)
c.5786A>C (p.Glu1929Ala)
c.9014A>C (p.Glu3005Ala)
8g.99853543A>GCA371780898VPS13Bc.10229A>G (p.Glu3410Gly)
n.10299A>G
c.*5911A>G (n.*5911A>G)
c.10154A>G (p.Glu3385Gly)
c.10226A>G (p.Glu3409Gly)
c.10151A>G (p.Glu3384Gly)
c.9851A>G (p.Glu3284Gly)
c.7115A>G (p.Glu2372Gly)
c.6008A>G (p.Glu2003Gly)
c.10034A>G (p.Glu3345Gly)
c.5786A>G (p.Glu1929Gly)
c.9014A>G (p.Glu3005Gly)
8g.99853543A>TCA371780899VPS13Bc.10229A>T (p.Glu3410Val)
n.10299A>T
c.*5911A>T (n.*5911A>T)
c.10154A>T (p.Glu3385Val)
c.10226A>T (p.Glu3409Val)
c.10151A>T (p.Glu3384Val)
c.9851A>T (p.Glu3284Val)
c.7115A>T (p.Glu2372Val)
c.6008A>T (p.Glu2003Val)
c.10034A>T (p.Glu3345Val)
c.5786A>T (p.Glu1929Val)
c.9014A>T (p.Glu3005Val)
8g.99853544G>ACA155936VPS13Bc.10230G>A (p.Glu3410=)
n.10300G>A
c.*5912G>A (n.*5912G>A)
c.10155G>A (p.Glu3385=)
c.10227G>A (p.Glu3409=)
c.10152G>A (p.Glu3384=)
c.9852G>A (p.Glu3284=)
c.7116G>A (p.Glu2372=)
c.6009G>A (p.Glu2003=)
c.10035G>A (p.Glu3345=)
c.5787G>A (p.Glu1929=)
c.9015G>A (p.Glu3005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853544G>CCA371780900VPS13Bc.10230G>C (p.Glu3410Asp)
n.10300G>C
c.*5912G>C (n.*5912G>C)
c.10155G>C (p.Glu3385Asp)
c.10227G>C (p.Glu3409Asp)
c.10152G>C (p.Glu3384Asp)
c.9852G>C (p.Glu3284Asp)
c.7116G>C (p.Glu2372Asp)
c.6009G>C (p.Glu2003Asp)
c.10035G>C (p.Glu3345Asp)
c.5787G>C (p.Glu1929Asp)
c.9015G>C (p.Glu3005Asp)
8g.99853544G>TCA371780901VPS13Bc.10230G>T (p.Glu3410Asp)
n.10300G>T
c.*5912G>T (n.*5912G>T)
c.10155G>T (p.Glu3385Asp)
c.10227G>T (p.Glu3409Asp)
c.10152G>T (p.Glu3384Asp)
c.9852G>T (p.Glu3284Asp)
c.7116G>T (p.Glu2372Asp)
c.6009G>T (p.Glu2003Asp)
c.10035G>T (p.Glu3345Asp)
c.5787G>T (p.Glu1929Asp)
c.9015G>T (p.Glu3005Asp)
8g.99853545C>ACA371780903VPS13Bc.10231C>A (p.Leu3411Ile)
n.10301C>A
c.*5913C>A (n.*5913C>A)
c.10156C>A (p.Leu3386Ile)
c.10228C>A (p.Leu3410Ile)
c.10153C>A (p.Leu3385Ile)
c.9853C>A (p.Leu3285Ile)
c.7117C>A (p.Leu2373Ile)
c.6010C>A (p.Leu2004Ile)
c.10036C>A (p.Leu3346Ile)
c.5788C>A (p.Leu1930Ile)
c.9016C>A (p.Leu3006Ile)
8g.99853545C>GCA371780902VPS13Bc.10231C>G (p.Leu3411Val)
n.10301C>G
c.*5913C>G (n.*5913C>G)
c.10156C>G (p.Leu3386Val)
c.10228C>G (p.Leu3410Val)
c.10153C>G (p.Leu3385Val)
c.9853C>G (p.Leu3285Val)
c.7117C>G (p.Leu2373Val)
c.6010C>G (p.Leu2004Val)
c.10036C>G (p.Leu3346Val)
c.5788C>G (p.Leu1930Val)
c.9016C>G (p.Leu3006Val)
8g.99853545C>TCA182314059VPS13Bc.10231C>T (p.Leu3411Phe)
n.10301C>T
c.*5913C>T (n.*5913C>T)
c.10156C>T (p.Leu3386Phe)
c.10228C>T (p.Leu3410Phe)
c.10153C>T (p.Leu3385Phe)
c.9853C>T (p.Leu3285Phe)
c.7117C>T (p.Leu2373Phe)
c.6010C>T (p.Leu2004Phe)
c.10036C>T (p.Leu3346Phe)
c.5788C>T (p.Leu1930Phe)
c.9016C>T (p.Leu3006Phe)
 dbSNP gnomAD v4
8g.99853546T>ACA371780904VPS13Bc.10232T>A (p.Leu3411His)
n.10302T>A
c.*5914T>A (n.*5914T>A)
c.10157T>A (p.Leu3386His)
c.10229T>A (p.Leu3410His)
c.10154T>A (p.Leu3385His)
c.9854T>A (p.Leu3285His)
c.7118T>A (p.Leu2373His)
c.6011T>A (p.Leu2004His)
c.10037T>A (p.Leu3346His)
c.5789T>A (p.Leu1930His)
c.9017T>A (p.Leu3006His)
8g.99853546T>CCA371780905VPS13Bc.10232T>C (p.Leu3411Pro)
n.10302T>C
c.*5914T>C (n.*5914T>C)
c.10157T>C (p.Leu3386Pro)
c.10229T>C (p.Leu3410Pro)
c.10154T>C (p.Leu3385Pro)
c.9854T>C (p.Leu3285Pro)
c.7118T>C (p.Leu2373Pro)
c.6011T>C (p.Leu2004Pro)
c.10037T>C (p.Leu3346Pro)
c.5789T>C (p.Leu1930Pro)
c.9017T>C (p.Leu3006Pro)
 gnomAD v4
8g.99853546T>GCA371780906VPS13Bc.10232T>G (p.Leu3411Arg)
n.10302T>G
c.*5914T>G (n.*5914T>G)
c.10157T>G (p.Leu3386Arg)
c.10229T>G (p.Leu3410Arg)
c.10154T>G (p.Leu3385Arg)
c.9854T>G (p.Leu3285Arg)
c.7118T>G (p.Leu2373Arg)
c.6011T>G (p.Leu2004Arg)
c.10037T>G (p.Leu3346Arg)
c.5789T>G (p.Leu1930Arg)
c.9017T>G (p.Leu3006Arg)
8g.99853547T>ACA462458073VPS13Bc.10233T>A (p.Leu3411=)
n.10303T>A
c.*5915T>A (n.*5915T>A)
c.10158T>A (p.Leu3386=)
c.10230T>A (p.Leu3410=)
c.10155T>A (p.Leu3385=)
c.9855T>A (p.Leu3285=)
c.7119T>A (p.Leu2373=)
c.6012T>A (p.Leu2004=)
c.10038T>A (p.Leu3346=)
c.5790T>A (p.Leu1930=)
c.9018T>A (p.Leu3006=)
8g.99853547T>CCA462458074VPS13Bc.10233T>C (p.Leu3411=)
n.10303T>C
c.*5915T>C (n.*5915T>C)
c.10158T>C (p.Leu3386=)
c.10230T>C (p.Leu3410=)
c.10155T>C (p.Leu3385=)
c.9855T>C (p.Leu3285=)
c.7119T>C (p.Leu2373=)
c.6012T>C (p.Leu2004=)
c.10038T>C (p.Leu3346=)
c.5790T>C (p.Leu1930=)
c.9018T>C (p.Leu3006=)
8g.99853547T>GCA462458075VPS13Bc.10233T>G (p.Leu3411=)
n.10303T>G
c.*5915T>G (n.*5915T>G)
c.10158T>G (p.Leu3386=)
c.10230T>G (p.Leu3410=)
c.10155T>G (p.Leu3385=)
c.9855T>G (p.Leu3285=)
c.7119T>G (p.Leu2373=)
c.6012T>G (p.Leu2004=)
c.10038T>G (p.Leu3346=)
c.5790T>G (p.Leu1930=)
c.9018T>G (p.Leu3006=)
8g.99853548C>ACA371780907VPS13Bc.10234C>A (p.Leu3412Met)
n.10304C>A
c.*5916C>A (n.*5916C>A)
c.10159C>A (p.Leu3387Met)
c.10231C>A (p.Leu3411Met)
c.10156C>A (p.Leu3386Met)
c.9856C>A (p.Leu3286Met)
c.7120C>A (p.Leu2374Met)
c.6013C>A (p.Leu2005Met)
c.10039C>A (p.Leu3347Met)
c.5791C>A (p.Leu1931Met)
c.9019C>A (p.Leu3007Met)
8g.99853548C>GCA371780908VPS13Bc.10234C>G (p.Leu3412Val)
n.10304C>G
c.*5916C>G (n.*5916C>G)
c.10159C>G (p.Leu3387Val)
c.10231C>G (p.Leu3411Val)
c.10156C>G (p.Leu3386Val)
c.9856C>G (p.Leu3286Val)
c.7120C>G (p.Leu2374Val)
c.6013C>G (p.Leu2005Val)
c.10039C>G (p.Leu3347Val)
c.5791C>G (p.Leu1931Val)
c.9019C>G (p.Leu3007Val)
 ClinVar
8g.99853548C>TCA462458076VPS13Bc.10234C>T (p.Leu3412=)
n.10304C>T
c.*5916C>T (n.*5916C>T)
c.10159C>T (p.Leu3387=)
c.10231C>T (p.Leu3411=)
c.10156C>T (p.Leu3386=)
c.9856C>T (p.Leu3286=)
c.7120C>T (p.Leu2374=)
c.6013C>T (p.Leu2005=)
c.10039C>T (p.Leu3347=)
c.5791C>T (p.Leu1931=)
c.9019C>T (p.Leu3007=)
 ClinVar dbSNP gnomAD v4
8g.99853549T>ACA371780909VPS13Bc.10235T>A (p.Leu3412Gln)
n.10305T>A
c.*5917T>A (n.*5917T>A)
c.10160T>A (p.Leu3387Gln)
c.10232T>A (p.Leu3411Gln)
c.10157T>A (p.Leu3386Gln)
c.9857T>A (p.Leu3286Gln)
c.7121T>A (p.Leu2374Gln)
c.6014T>A (p.Leu2005Gln)
c.10040T>A (p.Leu3347Gln)
c.5792T>A (p.Leu1931Gln)
c.9020T>A (p.Leu3007Gln)
8g.99853549T>CCA371780911VPS13Bc.10235T>C (p.Leu3412Pro)
n.10305T>C
c.*5917T>C (n.*5917T>C)
c.10160T>C (p.Leu3387Pro)
c.10232T>C (p.Leu3411Pro)
c.10157T>C (p.Leu3386Pro)
c.9857T>C (p.Leu3286Pro)
c.7121T>C (p.Leu2374Pro)
c.6014T>C (p.Leu2005Pro)
c.10040T>C (p.Leu3347Pro)
c.5792T>C (p.Leu1931Pro)
c.9020T>C (p.Leu3007Pro)
8g.99853549T>GCA371780910VPS13Bc.10235T>G (p.Leu3412Arg)
n.10305T>G
c.*5917T>G (n.*5917T>G)
c.10160T>G (p.Leu3387Arg)
c.10232T>G (p.Leu3411Arg)
c.10157T>G (p.Leu3386Arg)
c.9857T>G (p.Leu3286Arg)
c.7121T>G (p.Leu2374Arg)
c.6014T>G (p.Leu2005Arg)
c.10040T>G (p.Leu3347Arg)
c.5792T>G (p.Leu1931Arg)
c.9020T>G (p.Leu3007Arg)
8g.99853550G>ACA182314062VPS13Bc.10236G>A (p.Leu3412=)
n.10306G>A
c.*5918G>A (n.*5918G>A)
c.10161G>A (p.Leu3387=)
c.10233G>A (p.Leu3411=)
c.10158G>A (p.Leu3386=)
c.9858G>A (p.Leu3286=)
c.7122G>A (p.Leu2374=)
c.6015G>A (p.Leu2005=)
c.10041G>A (p.Leu3347=)
c.5793G>A (p.Leu1931=)
c.9021G>A (p.Leu3007=)
 dbSNP
8g.99853550G>CCA462458077VPS13Bc.10236G>C (p.Leu3412=)
n.10306G>C
c.*5918G>C (n.*5918G>C)
c.10161G>C (p.Leu3387=)
c.10233G>C (p.Leu3411=)
c.10158G>C (p.Leu3386=)
c.9858G>C (p.Leu3286=)
c.7122G>C (p.Leu2374=)
c.6015G>C (p.Leu2005=)
c.10041G>C (p.Leu3347=)
c.5793G>C (p.Leu1931=)
c.9021G>C (p.Leu3007=)
 dbSNP
8g.99853550G>TCA462458078VPS13Bc.10236G>T (p.Leu3412=)
n.10306G>T
c.*5918G>T (n.*5918G>T)
c.10161G>T (p.Leu3387=)
c.10233G>T (p.Leu3411=)
c.10158G>T (p.Leu3386=)
c.9858G>T (p.Leu3286=)
c.7122G>T (p.Leu2374=)
c.6015G>T (p.Leu2005=)
c.10041G>T (p.Leu3347=)
c.5793G>T (p.Leu1931=)
c.9021G>T (p.Leu3007=)
8g.99853550_99853559delCA2579210869VPS13Bc.10236_10245del (p.Arg3413TrpfsTer?)
n.10306_10315del
c.*5918_*5927del (n.*5918_*5927del)
c.10161_10170del (p.Arg3388TrpfsTer?)
c.10233_10242del (p.Arg3412TrpfsTer?)
c.10158_10167del (p.Arg3387TrpfsTer?)
c.9858_9867del (p.Arg3287TrpfsTer?)
c.7122_7131del (p.Arg2375TrpfsTer?)
c.6015_6024del (p.Arg2006TrpfsTer?)
c.10041_10050del (p.Arg3348TrpfsTer?)
c.5793_5802del (p.Arg1932TrpfsTer?)
c.9021_9030del (p.Arg3008TrpfsTer?)
 ClinVar
8g.99853551A>CCA462458079VPS13Bc.10237A>C (p.Arg3413=)
n.10307A>C
c.*5919A>C (n.*5919A>C)
c.10162A>C (p.Arg3388=)
c.10234A>C (p.Arg3412=)
c.10159A>C (p.Arg3387=)
c.9859A>C (p.Arg3287=)
c.7123A>C (p.Arg2375=)
c.6016A>C (p.Arg2006=)
c.10042A>C (p.Arg3348=)
c.5794A>C (p.Arg1932=)
c.9022A>C (p.Arg3008=)
8g.99853551A>GCA371780912VPS13Bc.10237A>G (p.Arg3413Gly)
n.10307A>G
c.*5919A>G (n.*5919A>G)
c.10162A>G (p.Arg3388Gly)
c.10234A>G (p.Arg3412Gly)
c.10159A>G (p.Arg3387Gly)
c.9859A>G (p.Arg3287Gly)
c.7123A>G (p.Arg2375Gly)
c.6016A>G (p.Arg2006Gly)
c.10042A>G (p.Arg3348Gly)
c.5794A>G (p.Arg1932Gly)
c.9022A>G (p.Arg3008Gly)
8g.99853551A>TCA371780913VPS13Bc.10237A>T (p.Arg3413Ter)
n.10307A>T
c.*5919A>T (n.*5919A>T)
c.10162A>T (p.Arg3388Ter)
c.10234A>T (p.Arg3412Ter)
c.10159A>T (p.Arg3387Ter)
c.9859A>T (p.Arg3287Ter)
c.7123A>T (p.Arg2375Ter)
c.6016A>T (p.Arg2006Ter)
c.10042A>T (p.Arg3348Ter)
c.5794A>T (p.Arg1932Ter)
c.9022A>T (p.Arg3008Ter)
8g.99853552G>ACA371780914VPS13Bc.10238G>A (p.Arg3413Lys)
n.10308G>A
c.*5920G>A (n.*5920G>A)
c.10163G>A (p.Arg3388Lys)
c.10235G>A (p.Arg3412Lys)
c.10160G>A (p.Arg3387Lys)
c.9860G>A (p.Arg3287Lys)
c.7124G>A (p.Arg2375Lys)
c.6017G>A (p.Arg2006Lys)
c.10043G>A (p.Arg3348Lys)
c.5795G>A (p.Arg1932Lys)
c.9023G>A (p.Arg3008Lys)
8g.99853552G>CCA371780915VPS13Bc.10238G>C (p.Arg3413Thr)
n.10308G>C
c.*5920G>C (n.*5920G>C)
c.10163G>C (p.Arg3388Thr)
c.10235G>C (p.Arg3412Thr)
c.10160G>C (p.Arg3387Thr)
c.9860G>C (p.Arg3287Thr)
c.7124G>C (p.Arg2375Thr)
c.6017G>C (p.Arg2006Thr)
c.10043G>C (p.Arg3348Thr)
c.5795G>C (p.Arg1932Thr)
c.9023G>C (p.Arg3008Thr)
8g.99853552G>TCA371780916VPS13Bc.10238G>T (p.Arg3413Ile)
n.10308G>T
c.*5920G>T (n.*5920G>T)
c.10163G>T (p.Arg3388Ile)
c.10235G>T (p.Arg3412Ile)
c.10160G>T (p.Arg3387Ile)
c.9860G>T (p.Arg3287Ile)
c.7124G>T (p.Arg2375Ile)
c.6017G>T (p.Arg2006Ile)
c.10043G>T (p.Arg3348Ile)
c.5795G>T (p.Arg1932Ile)
c.9023G>T (p.Arg3008Ile)
 gnomAD v4
8g.99853553A>CCA371780917VPS13Bc.10239A>C (p.Arg3413Ser)
n.10309A>C
c.*5921A>C (n.*5921A>C)
c.10164A>C (p.Arg3388Ser)
c.10236A>C (p.Arg3412Ser)
c.10161A>C (p.Arg3387Ser)
c.9861A>C (p.Arg3287Ser)
c.7125A>C (p.Arg2375Ser)
c.6018A>C (p.Arg2006Ser)
c.10044A>C (p.Arg3348Ser)
c.5796A>C (p.Arg1932Ser)
c.9024A>C (p.Arg3008Ser)
8g.99853553A>GCA462458080VPS13Bc.10239A>G (p.Arg3413=)
n.10309A>G
c.*5921A>G (n.*5921A>G)
c.10164A>G (p.Arg3388=)
c.10236A>G (p.Arg3412=)
c.10161A>G (p.Arg3387=)
c.9861A>G (p.Arg3287=)
c.7125A>G (p.Arg2375=)
c.6018A>G (p.Arg2006=)
c.10044A>G (p.Arg3348=)
c.5796A>G (p.Arg1932=)
c.9024A>G (p.Arg3008=)
8g.99853553A>TCA371780918VPS13Bc.10239A>T (p.Arg3413Ser)
n.10309A>T
c.*5921A>T (n.*5921A>T)
c.10164A>T (p.Arg3388Ser)
c.10236A>T (p.Arg3412Ser)
c.10161A>T (p.Arg3387Ser)
c.9861A>T (p.Arg3287Ser)
c.7125A>T (p.Arg2375Ser)
c.6018A>T (p.Arg2006Ser)
c.10044A>T (p.Arg3348Ser)
c.5796A>T (p.Arg1932Ser)
c.9024A>T (p.Arg3008Ser)
8g.99853553_99853555delCA913128135VPS13Bc.10239_10241del (p.Arg3413_Leu3414delinsSer)
n.10309_10311del
c.*5921_*5923del (n.*5921_*5923del)
c.10164_10166del (p.Arg3388_Leu3389delinsSer)
c.10236_10238del (p.Arg3412_Leu3413delinsSer)
c.10161_10163del (p.Arg3387_Leu3388delinsSer)
c.9861_9863del (p.Arg3287_Leu3288delinsSer)
c.7125_7127del (p.Arg2375_Leu2376delinsSer)
c.6018_6020del (p.Arg2006_Leu2007delinsSer)
c.10044_10046del (p.Arg3348_Leu3349delinsSer)
c.5796_5798del (p.Arg1932_Leu1933delinsSer)
c.9024_9026del (p.Arg3008_Leu3009delinsSer)
8g.99853554C>ACA371780919VPS13Bc.10240C>A (p.Leu3414Ile)
n.10310C>A
c.*5922C>A (n.*5922C>A)
c.10165C>A (p.Leu3389Ile)
c.10237C>A (p.Leu3413Ile)
c.10162C>A (p.Leu3388Ile)
c.9862C>A (p.Leu3288Ile)
c.7126C>A (p.Leu2376Ile)
c.6019C>A (p.Leu2007Ile)
c.10045C>A (p.Leu3349Ile)
c.5797C>A (p.Leu1933Ile)
c.9025C>A (p.Leu3009Ile)
8g.99853554C>GCA371780920VPS13Bc.10240C>G (p.Leu3414Val)
n.10310C>G
c.*5922C>G (n.*5922C>G)
c.10165C>G (p.Leu3389Val)
c.10237C>G (p.Leu3413Val)
c.10162C>G (p.Leu3388Val)
c.9862C>G (p.Leu3288Val)
c.7126C>G (p.Leu2376Val)
c.6019C>G (p.Leu2007Val)
c.10045C>G (p.Leu3349Val)
c.5797C>G (p.Leu1933Val)
c.9025C>G (p.Leu3009Val)
 gnomAD v4
8g.99853554C>TCA371780921VPS13Bc.10240C>T (p.Leu3414Phe)
n.10310C>T
c.*5922C>T (n.*5922C>T)
c.10165C>T (p.Leu3389Phe)
c.10237C>T (p.Leu3413Phe)
c.10162C>T (p.Leu3388Phe)
c.9862C>T (p.Leu3288Phe)
c.7126C>T (p.Leu2376Phe)
c.6019C>T (p.Leu2007Phe)
c.10045C>T (p.Leu3349Phe)
c.5797C>T (p.Leu1933Phe)
c.9025C>T (p.Leu3009Phe)
8g.99853555_99853556delCA658821909VPS13Bc.10241_10242del (p.Leu3414HisfsTer27)
n.10311_10312del
c.*5923_*5924del (n.*5923_*5924del)
c.10166_10167del (p.Leu3389HisfsTer27)
c.10238_10239del (p.Leu3413HisfsTer27)
c.10163_10164del (p.Leu3388HisfsTer27)
c.9863_9864del (p.Leu3288HisfsTer27)
c.7127_7128del (p.Leu2376HisfsTer27)
c.6020_6021del (p.Leu2007HisfsTer27)
c.10046_10047del (p.Leu3349HisfsTer27)
c.5798_5799del (p.Leu1933HisfsTer27)
c.9026_9027del (p.Leu3009HisfsTer27)
 ClinVar dbSNP gnomAD v4
8g.99853554_99853596delCA10576250VPS13Bc.10240_10282del (p.Leu3414ValfsTer27)
n.10310_10352del
c.*5922_*5964del (n.*5922_*5964del)
c.10165_10207del (p.Leu3389ValfsTer27)
c.10237_10279del (p.Leu3413ValfsTer27)
c.10162_10204del (p.Leu3388ValfsTer27)
c.9862_9904del (p.Leu3288ValfsTer27)
c.7126_7168del (p.Leu2376ValfsTer27)
c.6019_6061del (p.Leu2007ValfsTer27)
c.10045_10087del (p.Leu3349ValfsTer27)
c.5797_5839del (p.Leu1933ValfsTer27)
c.9025_9067del (p.Leu3009ValfsTer27)
 ClinVar dbSNP
8g.99853555T>ACA371780922VPS13Bc.10241T>A (p.Leu3414His)
n.10311T>A
c.*5923T>A (n.*5923T>A)
c.10166T>A (p.Leu3389His)
c.10238T>A (p.Leu3413His)
c.10163T>A (p.Leu3388His)
c.9863T>A (p.Leu3288His)
c.7127T>A (p.Leu2376His)
c.6020T>A (p.Leu2007His)
c.10046T>A (p.Leu3349His)
c.5798T>A (p.Leu1933His)
c.9026T>A (p.Leu3009His)
8g.99853555T>CCA371780924VPS13Bc.10241T>C (p.Leu3414Pro)
n.10311T>C
c.*5923T>C (n.*5923T>C)
c.10166T>C (p.Leu3389Pro)
c.10238T>C (p.Leu3413Pro)
c.10163T>C (p.Leu3388Pro)
c.9863T>C (p.Leu3288Pro)
c.7127T>C (p.Leu2376Pro)
c.6020T>C (p.Leu2007Pro)
c.10046T>C (p.Leu3349Pro)
c.5798T>C (p.Leu1933Pro)
c.9026T>C (p.Leu3009Pro)
8g.99853555T>GCA371780923VPS13Bc.10241T>G (p.Leu3414Arg)
n.10311T>G
c.*5923T>G (n.*5923T>G)
c.10166T>G (p.Leu3389Arg)
c.10238T>G (p.Leu3413Arg)
c.10163T>G (p.Leu3388Arg)
c.9863T>G (p.Leu3288Arg)
c.7127T>G (p.Leu2376Arg)
c.6020T>G (p.Leu2007Arg)
c.10046T>G (p.Leu3349Arg)
c.5798T>G (p.Leu1933Arg)
c.9026T>G (p.Leu3009Arg)
8g.99853556C>ACA462458083VPS13Bc.10242C>A (p.Leu3414=)
n.10312C>A
c.*5924C>A (n.*5924C>A)
c.10167C>A (p.Leu3389=)
c.10239C>A (p.Leu3413=)
c.10164C>A (p.Leu3388=)
c.9864C>A (p.Leu3288=)
c.7128C>A (p.Leu2376=)
c.6021C>A (p.Leu2007=)
c.10047C>A (p.Leu3349=)
c.5799C>A (p.Leu1933=)
c.9027C>A (p.Leu3009=)
8g.99853556C>GCA462458082VPS13Bc.10242C>G (p.Leu3414=)
n.10312C>G
c.*5924C>G (n.*5924C>G)
c.10167C>G (p.Leu3389=)
c.10239C>G (p.Leu3413=)
c.10164C>G (p.Leu3388=)
c.9864C>G (p.Leu3288=)
c.7128C>G (p.Leu2376=)
c.6021C>G (p.Leu2007=)
c.10047C>G (p.Leu3349=)
c.5799C>G (p.Leu1933=)
c.9027C>G (p.Leu3009=)
8g.99853556C>TCA462458081VPS13Bc.10242C>T (p.Leu3414=)
n.10312C>T
c.*5924C>T (n.*5924C>T)
c.10167C>T (p.Leu3389=)
c.10239C>T (p.Leu3413=)
c.10164C>T (p.Leu3388=)
c.9864C>T (p.Leu3288=)
c.7128C>T (p.Leu2376=)
c.6021C>T (p.Leu2007=)
c.10047C>T (p.Leu3349=)
c.5799C>T (p.Leu1933=)
c.9027C>T (p.Leu3009=)
 COSMIC COSMIC
8g.99853559_99853560delCA4824903VPS13Bc.10245_10246del (p.Leu3416GlyfsTer25)
n.10315_10316del
c.*5927_*5928del (n.*5927_*5928del)
c.10170_10171del (p.Leu3391GlyfsTer25)
c.10242_10243del (p.Leu3415GlyfsTer25)
c.10167_10168del (p.Leu3390GlyfsTer25)
c.9867_9868del (p.Leu3290GlyfsTer25)
c.7131_7132del (p.Leu2378GlyfsTer25)
c.6024_6025del (p.Leu2009GlyfsTer25)
c.10050_10051del (p.Leu3351GlyfsTer25)
c.5802_5803del (p.Leu1935GlyfsTer25)
c.9030_9031del (p.Leu3011GlyfsTer25)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853557A>CCA371780927VPS13Bc.10243A>C (p.Thr3415Pro)
n.10313A>C
c.*5925A>C (n.*5925A>C)
c.10168A>C (p.Thr3390Pro)
c.10240A>C (p.Thr3414Pro)
c.10165A>C (p.Thr3389Pro)
c.9865A>C (p.Thr3289Pro)
c.7129A>C (p.Thr2377Pro)
c.6022A>C (p.Thr2008Pro)
c.10048A>C (p.Thr3350Pro)
c.5800A>C (p.Thr1934Pro)
c.9028A>C (p.Thr3010Pro)
8g.99853557A>GCA371780925VPS13Bc.10243A>G (p.Thr3415Ala)
n.10313A>G
c.*5925A>G (n.*5925A>G)
c.10168A>G (p.Thr3390Ala)
c.10240A>G (p.Thr3414Ala)
c.10165A>G (p.Thr3389Ala)
c.9865A>G (p.Thr3289Ala)
c.7129A>G (p.Thr2377Ala)
c.6022A>G (p.Thr2008Ala)
c.10048A>G (p.Thr3350Ala)
c.5800A>G (p.Thr1934Ala)
c.9028A>G (p.Thr3010Ala)
8g.99853557A>TCA371780926VPS13Bc.10243A>T (p.Thr3415Ser)
n.10313A>T
c.*5925A>T (n.*5925A>T)
c.10168A>T (p.Thr3390Ser)
c.10240A>T (p.Thr3414Ser)
c.10165A>T (p.Thr3389Ser)
c.9865A>T (p.Thr3289Ser)
c.7129A>T (p.Thr2377Ser)
c.6022A>T (p.Thr2008Ser)
c.10048A>T (p.Thr3350Ser)
c.5800A>T (p.Thr1934Ser)
c.9028A>T (p.Thr3010Ser)
8g.99853558C>ACA371780928VPS13Bc.10244C>A (p.Thr3415Lys)
n.10314C>A
c.*5926C>A (n.*5926C>A)
c.10169C>A (p.Thr3390Lys)
c.10241C>A (p.Thr3414Lys)
c.10166C>A (p.Thr3389Lys)
c.9866C>A (p.Thr3289Lys)
c.7130C>A (p.Thr2377Lys)
c.6023C>A (p.Thr2008Lys)
c.10049C>A (p.Thr3350Lys)
c.5801C>A (p.Thr1934Lys)
c.9029C>A (p.Thr3010Lys)
 gnomAD v4
8g.99853558C>GCA371780929VPS13Bc.10244C>G (p.Thr3415Arg)
n.10314C>G
c.*5926C>G (n.*5926C>G)
c.10169C>G (p.Thr3390Arg)
c.10241C>G (p.Thr3414Arg)
c.10166C>G (p.Thr3389Arg)
c.9866C>G (p.Thr3289Arg)
c.7130C>G (p.Thr2377Arg)
c.6023C>G (p.Thr2008Arg)
c.10049C>G (p.Thr3350Arg)
c.5801C>G (p.Thr1934Arg)
c.9029C>G (p.Thr3010Arg)
 ClinVar dbSNP
8g.99853558C>TCA4824904VPS13Bc.10244C>T (p.Thr3415Ile)
n.10314C>T
c.*5926C>T (n.*5926C>T)
c.10169C>T (p.Thr3390Ile)
c.10241C>T (p.Thr3414Ile)
c.10166C>T (p.Thr3389Ile)
c.9866C>T (p.Thr3289Ile)
c.7130C>T (p.Thr2377Ile)
c.6023C>T (p.Thr2008Ile)
c.10049C>T (p.Thr3350Ile)
c.5801C>T (p.Thr1934Ile)
c.9029C>T (p.Thr3010Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853559A>CCA462458086VPS13Bc.10245A>C (p.Thr3415=)
n.10315A>C
c.*5927A>C (n.*5927A>C)
c.10170A>C (p.Thr3390=)
c.10242A>C (p.Thr3414=)
c.10167A>C (p.Thr3389=)
c.9867A>C (p.Thr3289=)
c.7131A>C (p.Thr2377=)
c.6024A>C (p.Thr2008=)
c.10050A>C (p.Thr3350=)
c.5802A>C (p.Thr1934=)
c.9030A>C (p.Thr3010=)
 ClinVar
8g.99853559A>GCA462458085VPS13Bc.10245A>G (p.Thr3415=)
n.10315A>G
c.*5927A>G (n.*5927A>G)
c.10170A>G (p.Thr3390=)
c.10242A>G (p.Thr3414=)
c.10167A>G (p.Thr3389=)
c.9867A>G (p.Thr3289=)
c.7131A>G (p.Thr2377=)
c.6024A>G (p.Thr2008=)
c.10050A>G (p.Thr3350=)
c.5802A>G (p.Thr1934=)
c.9030A>G (p.Thr3010=)
8g.99853559A>TCA462458084VPS13Bc.10245A>T (p.Thr3415=)
n.10315A>T
c.*5927A>T (n.*5927A>T)
c.10170A>T (p.Thr3390=)
c.10242A>T (p.Thr3414=)
c.10167A>T (p.Thr3389=)
c.9867A>T (p.Thr3289=)
c.7131A>T (p.Thr2377=)
c.6024A>T (p.Thr2008=)
c.10050A>T (p.Thr3350=)
c.5802A>T (p.Thr1934=)
c.9030A>T (p.Thr3010=)
8g.99853560C>ACA371780930VPS13Bc.10246C>A (p.Leu3416Met)
n.10316C>A
c.*5928C>A (n.*5928C>A)
c.10171C>A (p.Leu3391Met)
c.10243C>A (p.Leu3415Met)
c.10168C>A (p.Leu3390Met)
c.9868C>A (p.Leu3290Met)
c.7132C>A (p.Leu2378Met)
c.6025C>A (p.Leu2009Met)
c.10051C>A (p.Leu3351Met)
c.5803C>A (p.Leu1935Met)
c.9031C>A (p.Leu3011Met)
8g.99853560C>GCA371780931VPS13Bc.10246C>G (p.Leu3416Val)
n.10316C>G
c.*5928C>G (n.*5928C>G)
c.10171C>G (p.Leu3391Val)
c.10243C>G (p.Leu3415Val)
c.10168C>G (p.Leu3390Val)
c.9868C>G (p.Leu3290Val)
c.7132C>G (p.Leu2378Val)
c.6025C>G (p.Leu2009Val)
c.10051C>G (p.Leu3351Val)
c.5803C>G (p.Leu1935Val)
c.9031C>G (p.Leu3011Val)
8g.99853560C>TCA462458087VPS13Bc.10246C>T (p.Leu3416=)
n.10316C>T
c.*5928C>T (n.*5928C>T)
c.10171C>T (p.Leu3391=)
c.10243C>T (p.Leu3415=)
c.10168C>T (p.Leu3390=)
c.9868C>T (p.Leu3290=)
c.7132C>T (p.Leu2378=)
c.6025C>T (p.Leu2009=)
c.10051C>T (p.Leu3351=)
c.5803C>T (p.Leu1935=)
c.9031C>T (p.Leu3011=)
 ClinVar dbSNP gnomAD v4
8g.99853561T>ACA371780932VPS13Bc.10247T>A (p.Leu3416Gln)
n.10317T>A
c.*5929T>A (n.*5929T>A)
c.10172T>A (p.Leu3391Gln)
c.10244T>A (p.Leu3415Gln)
c.10169T>A (p.Leu3390Gln)
c.9869T>A (p.Leu3290Gln)
c.7133T>A (p.Leu2378Gln)
c.6026T>A (p.Leu2009Gln)
c.10052T>A (p.Leu3351Gln)
c.5804T>A (p.Leu1935Gln)
c.9032T>A (p.Leu3011Gln)
8g.99853561T>CCA371780933VPS13Bc.10247T>C (p.Leu3416Pro)
n.10317T>C
c.*5929T>C (n.*5929T>C)
c.10172T>C (p.Leu3391Pro)
c.10244T>C (p.Leu3415Pro)
c.10169T>C (p.Leu3390Pro)
c.9869T>C (p.Leu3290Pro)
c.7133T>C (p.Leu2378Pro)
c.6026T>C (p.Leu2009Pro)
c.10052T>C (p.Leu3351Pro)
c.5804T>C (p.Leu1935Pro)
c.9032T>C (p.Leu3011Pro)
 gnomAD v4
8g.99853561T>GCA371780934VPS13Bc.10247T>G (p.Leu3416Arg)
n.10317T>G
c.*5929T>G (n.*5929T>G)
c.10172T>G (p.Leu3391Arg)
c.10244T>G (p.Leu3415Arg)
c.10169T>G (p.Leu3390Arg)
c.9869T>G (p.Leu3290Arg)
c.7133T>G (p.Leu2378Arg)
c.6026T>G (p.Leu2009Arg)
c.10052T>G (p.Leu3351Arg)
c.5804T>G (p.Leu1935Arg)
c.9032T>G (p.Leu3011Arg)
8g.99853562G>ACA462458090VPS13Bc.10248G>A (p.Leu3416=)
n.10318G>A
c.*5930G>A (n.*5930G>A)
c.10173G>A (p.Leu3391=)
c.10245G>A (p.Leu3415=)
c.10170G>A (p.Leu3390=)
c.9870G>A (p.Leu3290=)
c.7134G>A (p.Leu2378=)
c.6027G>A (p.Leu2009=)
c.10053G>A (p.Leu3351=)
c.5805G>A (p.Leu1935=)
c.9033G>A (p.Leu3011=)
 ClinVar dbSNP
8g.99853562G>CCA462458089VPS13Bc.10248G>C (p.Leu3416=)
n.10318G>C
c.*5930G>C (n.*5930G>C)
c.10173G>C (p.Leu3391=)
c.10245G>C (p.Leu3415=)
c.10170G>C (p.Leu3390=)
c.9870G>C (p.Leu3290=)
c.7134G>C (p.Leu2378=)
c.6027G>C (p.Leu2009=)
c.10053G>C (p.Leu3351=)
c.5805G>C (p.Leu1935=)
c.9033G>C (p.Leu3011=)
8g.99853562G>TCA462458088VPS13Bc.10248G>T (p.Leu3416=)
n.10318G>T
c.*5930G>T (n.*5930G>T)
c.10173G>T (p.Leu3391=)
c.10245G>T (p.Leu3415=)
c.10170G>T (p.Leu3390=)
c.9870G>T (p.Leu3290=)
c.7134G>T (p.Leu2378=)
c.6027G>T (p.Leu2009=)
c.10053G>T (p.Leu3351=)
c.5805G>T (p.Leu1935=)
c.9033G>T (p.Leu3011=)
8g.99853563G>ACA371780935VPS13Bc.10249G>A (p.Asp3417Asn)
n.10319G>A
c.*5931G>A (n.*5931G>A)
c.10174G>A (p.Asp3392Asn)
c.10246G>A (p.Asp3416Asn)
c.10171G>A (p.Asp3391Asn)
c.9871G>A (p.Asp3291Asn)
c.7135G>A (p.Asp2379Asn)
c.6028G>A (p.Asp2010Asn)
c.10054G>A (p.Asp3352Asn)
c.5806G>A (p.Asp1936Asn)
c.9034G>A (p.Asp3012Asn)
8g.99853563G>CCA4824905VPS13Bc.10249G>C (p.Asp3417His)
n.10319G>C
c.*5931G>C (n.*5931G>C)
c.10174G>C (p.Asp3392His)
c.10246G>C (p.Asp3416His)
c.10171G>C (p.Asp3391His)
c.9871G>C (p.Asp3291His)
c.7135G>C (p.Asp2379His)
c.6028G>C (p.Asp2010His)
c.10054G>C (p.Asp3352His)
c.5806G>C (p.Asp1936His)
c.9034G>C (p.Asp3012His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853563G>TCA371780936VPS13Bc.10249G>T (p.Asp3417Tyr)
n.10319G>T
c.*5931G>T (n.*5931G>T)
c.10174G>T (p.Asp3392Tyr)
c.10246G>T (p.Asp3416Tyr)
c.10171G>T (p.Asp3391Tyr)
c.9871G>T (p.Asp3291Tyr)
c.7135G>T (p.Asp2379Tyr)
c.6028G>T (p.Asp2010Tyr)
c.10054G>T (p.Asp3352Tyr)
c.5806G>T (p.Asp1936Tyr)
c.9034G>T (p.Asp3012Tyr)
8g.99853563_99853566delCA913128136VPS13Bc.10249_10252del (p.Asp3417ThrfsTer?)
n.10319_10322del
c.*5931_*5934del (n.*5931_*5934del)
c.10174_10177del (p.Asp3392ThrfsTer?)
c.10246_10249del (p.Asp3416ThrfsTer?)
c.10171_10174del (p.Asp3391ThrfsTer?)
c.9871_9874del (p.Asp3291ThrfsTer?)
c.7135_7138del (p.Asp2379ThrfsTer?)
c.6028_6031del (p.Asp2010ThrfsTer?)
c.10054_10057del (p.Asp3352ThrfsTer?)
c.5806_5809del (p.Asp1936ThrfsTer?)
c.9034_9037del (p.Asp3012ThrfsTer?)
8g.99853564A>CCA371780937VPS13Bc.10250A>C (p.Asp3417Ala)
n.10320A>C
c.*5932A>C (n.*5932A>C)
c.10175A>C (p.Asp3392Ala)
c.10247A>C (p.Asp3416Ala)
c.10172A>C (p.Asp3391Ala)
c.9872A>C (p.Asp3291Ala)
c.7136A>C (p.Asp2379Ala)
c.6029A>C (p.Asp2010Ala)
c.10055A>C (p.Asp3352Ala)
c.5807A>C (p.Asp1936Ala)
c.9035A>C (p.Asp3012Ala)
8g.99853564A>GCA371780939VPS13Bc.10250A>G (p.Asp3417Gly)
n.10320A>G
c.*5932A>G (n.*5932A>G)
c.10175A>G (p.Asp3392Gly)
c.10247A>G (p.Asp3416Gly)
c.10172A>G (p.Asp3391Gly)
c.9872A>G (p.Asp3291Gly)
c.7136A>G (p.Asp2379Gly)
c.6029A>G (p.Asp2010Gly)
c.10055A>G (p.Asp3352Gly)
c.5807A>G (p.Asp1936Gly)
c.9035A>G (p.Asp3012Gly)
8g.99853564A>TCA371780938VPS13Bc.10250A>T (p.Asp3417Val)
n.10320A>T
c.*5932A>T (n.*5932A>T)
c.10175A>T (p.Asp3392Val)
c.10247A>T (p.Asp3416Val)
c.10172A>T (p.Asp3391Val)
c.9872A>T (p.Asp3291Val)
c.7136A>T (p.Asp2379Val)
c.6029A>T (p.Asp2010Val)
c.10055A>T (p.Asp3352Val)
c.5807A>T (p.Asp1936Val)
c.9035A>T (p.Asp3012Val)
8g.99853567_99853569delCA658821910VPS13Bc.10253_10255del (p.Asn3418del)
n.10323_10325del
c.*5935_*5937del (n.*5935_*5937del)
c.10178_10180del (p.Asn3393del)
c.10250_10252del (p.Asn3417del)
c.10175_10177del (p.Asn3392del)
c.9875_9877del (p.Asn3292del)
c.7139_7141del (p.Asn2380del)
c.6032_6034del (p.Asn2011del)
c.10058_10060del (p.Asn3353del)
c.5810_5812del (p.Asn1937del)
c.9038_9040del (p.Asn3013del)
 ClinVar dbSNP
8g.99853565C>ACA371780940VPS13Bc.10251C>A (p.Asp3417Glu)
n.10321C>A
c.*5933C>A (n.*5933C>A)
c.10176C>A (p.Asp3392Glu)
c.10248C>A (p.Asp3416Glu)
c.10173C>A (p.Asp3391Glu)
c.9873C>A (p.Asp3291Glu)
c.7137C>A (p.Asp2379Glu)
c.6030C>A (p.Asp2010Glu)
c.10056C>A (p.Asp3352Glu)
c.5808C>A (p.Asp1936Glu)
c.9036C>A (p.Asp3012Glu)
 gnomAD v4
8g.99853565C>GCA371780941VPS13Bc.10251C>G (p.Asp3417Glu)
n.10321C>G
c.*5933C>G (n.*5933C>G)
c.10176C>G (p.Asp3392Glu)
c.10248C>G (p.Asp3416Glu)
c.10173C>G (p.Asp3391Glu)
c.9873C>G (p.Asp3291Glu)
c.7137C>G (p.Asp2379Glu)
c.6030C>G (p.Asp2010Glu)
c.10056C>G (p.Asp3352Glu)
c.5808C>G (p.Asp1936Glu)
c.9036C>G (p.Asp3012Glu)
8g.99853565C>TCA462458091VPS13Bc.10251C>T (p.Asp3417=)
n.10321C>T
c.*5933C>T (n.*5933C>T)
c.10176C>T (p.Asp3392=)
c.10248C>T (p.Asp3416=)
c.10173C>T (p.Asp3391=)
c.9873C>T (p.Asp3291=)
c.7137C>T (p.Asp2379=)
c.6030C>T (p.Asp2010=)
c.10056C>T (p.Asp3352=)
c.5808C>T (p.Asp1936=)
c.9036C>T (p.Asp3012=)
8g.99853566A>CCA371780942VPS13Bc.10252A>C (p.Asn3418His)
n.10322A>C
c.*5934A>C (n.*5934A>C)
c.10177A>C (p.Asn3393His)
c.10249A>C (p.Asn3417His)
c.10174A>C (p.Asn3392His)
c.9874A>C (p.Asn3292His)
c.7138A>C (p.Asn2380His)
c.6031A>C (p.Asn2011His)
c.10057A>C (p.Asn3353His)
c.5809A>C (p.Asn1937His)
c.9037A>C (p.Asn3013His)
8g.99853566A>GCA371780943VPS13Bc.10252A>G (p.Asn3418Asp)
n.10322A>G
c.*5934A>G (n.*5934A>G)
c.10177A>G (p.Asn3393Asp)
c.10249A>G (p.Asn3417Asp)
c.10174A>G (p.Asn3392Asp)
c.9874A>G (p.Asn3292Asp)
c.7138A>G (p.Asn2380Asp)
c.6031A>G (p.Asn2011Asp)
c.10057A>G (p.Asn3353Asp)
c.5809A>G (p.Asn1937Asp)
c.9037A>G (p.Asn3013Asp)
8g.99853566A>TCA371780944VPS13Bc.10252A>T (p.Asn3418Tyr)
n.10322A>T
c.*5934A>T (n.*5934A>T)
c.10177A>T (p.Asn3393Tyr)
c.10249A>T (p.Asn3417Tyr)
c.10174A>T (p.Asn3392Tyr)
c.9874A>T (p.Asn3292Tyr)
c.7138A>T (p.Asn2380Tyr)
c.6031A>T (p.Asn2011Tyr)
c.10057A>T (p.Asn3353Tyr)
c.5809A>T (p.Asn1937Tyr)
c.9037A>T (p.Asn3013Tyr)
8g.99853567A>CCA371780945VPS13Bc.10253A>C (p.Asn3418Thr)
n.10323A>C
c.*5935A>C (n.*5935A>C)
c.10178A>C (p.Asn3393Thr)
c.10250A>C (p.Asn3417Thr)
c.10175A>C (p.Asn3392Thr)
c.9875A>C (p.Asn3292Thr)
c.7139A>C (p.Asn2380Thr)
c.6032A>C (p.Asn2011Thr)
c.10058A>C (p.Asn3353Thr)
c.5810A>C (p.Asn1937Thr)
c.9038A>C (p.Asn3013Thr)
 gnomAD v4
8g.99853567A>GCA371780946VPS13Bc.10253A>G (p.Asn3418Ser)
n.10323A>G
c.*5935A>G (n.*5935A>G)
c.10178A>G (p.Asn3393Ser)
c.10250A>G (p.Asn3417Ser)
c.10175A>G (p.Asn3392Ser)
c.9875A>G (p.Asn3292Ser)
c.7139A>G (p.Asn2380Ser)
c.6032A>G (p.Asn2011Ser)
c.10058A>G (p.Asn3353Ser)
c.5810A>G (p.Asn1937Ser)
c.9038A>G (p.Asn3013Ser)
8g.99853567A>TCA371780947VPS13Bc.10253A>T (p.Asn3418Ile)
n.10323A>T
c.*5935A>T (n.*5935A>T)
c.10178A>T (p.Asn3393Ile)
c.10250A>T (p.Asn3417Ile)
c.10175A>T (p.Asn3392Ile)
c.9875A>T (p.Asn3292Ile)
c.7139A>T (p.Asn2380Ile)
c.6032A>T (p.Asn2011Ile)
c.10058A>T (p.Asn3353Ile)
c.5810A>T (p.Asn1937Ile)
c.9038A>T (p.Asn3013Ile)
8g.99853568delCA2688071924VPS13Bc.10254del (p.Asn3418LysfsTer?)
n.10324del
c.*5936del (n.*5936del)
c.10179del (p.Asn3393LysfsTer?)
c.10251del (p.Asn3417LysfsTer?)
c.10176del (p.Asn3392LysfsTer?)
c.9876del (p.Asn3292LysfsTer?)
c.7140del (p.Asn2380LysfsTer?)
c.6033del (p.Asn2011LysfsTer?)
c.10059del (p.Asn3353LysfsTer?)
c.5811del (p.Asn1937LysfsTer?)
c.9039del (p.Asn3013LysfsTer?)
 gnomAD v4
8g.99853568C>ACA371780948VPS13Bc.10254C>A (p.Asn3418Lys)
n.10324C>A
c.*5936C>A (n.*5936C>A)
c.10179C>A (p.Asn3393Lys)
c.10251C>A (p.Asn3417Lys)
c.10176C>A (p.Asn3392Lys)
c.9876C>A (p.Asn3292Lys)
c.7140C>A (p.Asn2380Lys)
c.6033C>A (p.Asn2011Lys)
c.10059C>A (p.Asn3353Lys)
c.5811C>A (p.Asn1937Lys)
c.9039C>A (p.Asn3013Lys)
8g.99853568C>GCA371780949VPS13Bc.10254C>G (p.Asn3418Lys)
n.10324C>G
c.*5936C>G (n.*5936C>G)
c.10179C>G (p.Asn3393Lys)
c.10251C>G (p.Asn3417Lys)
c.10176C>G (p.Asn3392Lys)
c.9876C>G (p.Asn3292Lys)
c.7140C>G (p.Asn2380Lys)
c.6033C>G (p.Asn2011Lys)
c.10059C>G (p.Asn3353Lys)
c.5811C>G (p.Asn1937Lys)
c.9039C>G (p.Asn3013Lys)
8g.99853568C>TCA462458092VPS13Bc.10254C>T (p.Asn3418=)
n.10324C>T
c.*5936C>T (n.*5936C>T)
c.10179C>T (p.Asn3393=)
c.10251C>T (p.Asn3417=)
c.10176C>T (p.Asn3392=)
c.9876C>T (p.Asn3292=)
c.7140C>T (p.Asn2380=)
c.6033C>T (p.Asn2011=)
c.10059C>T (p.Asn3353=)
c.5811C>T (p.Asn1937=)
c.9039C>T (p.Asn3013=)
8g.99853569A>CCA371780951VPS13Bc.10255A>C (p.Ile3419Leu)
n.10325A>C
c.*5937A>C (n.*5937A>C)
c.10180A>C (p.Ile3394Leu)
c.10252A>C (p.Ile3418Leu)
c.10177A>C (p.Ile3393Leu)
c.9877A>C (p.Ile3293Leu)
c.7141A>C (p.Ile2381Leu)
c.6034A>C (p.Ile2012Leu)
c.10060A>C (p.Ile3354Leu)
c.5812A>C (p.Ile1938Leu)
c.9040A>C (p.Ile3014Leu)
8g.99853569A>GCA371780952VPS13Bc.10255A>G (p.Ile3419Val)
n.10325A>G
c.*5937A>G (n.*5937A>G)
c.10180A>G (p.Ile3394Val)
c.10252A>G (p.Ile3418Val)
c.10177A>G (p.Ile3393Val)
c.9877A>G (p.Ile3293Val)
c.7141A>G (p.Ile2381Val)
c.6034A>G (p.Ile2012Val)
c.10060A>G (p.Ile3354Val)
c.5812A>G (p.Ile1938Val)
c.9040A>G (p.Ile3014Val)
8g.99853569A>TCA371780950VPS13Bc.10255A>T (p.Ile3419Phe)
n.10325A>T
c.*5937A>T (n.*5937A>T)
c.10180A>T (p.Ile3394Phe)
c.10252A>T (p.Ile3418Phe)
c.10177A>T (p.Ile3393Phe)
c.9877A>T (p.Ile3293Phe)
c.7141A>T (p.Ile2381Phe)
c.6034A>T (p.Ile2012Phe)
c.10060A>T (p.Ile3354Phe)
c.5812A>T (p.Ile1938Phe)
c.9040A>T (p.Ile3014Phe)
8g.99853570T>ACA371780953VPS13Bc.10256T>A (p.Ile3419Asn)
n.10326T>A
c.*5938T>A (n.*5938T>A)
c.10181T>A (p.Ile3394Asn)
c.10253T>A (p.Ile3418Asn)
c.10178T>A (p.Ile3393Asn)
c.9878T>A (p.Ile3293Asn)
c.7142T>A (p.Ile2381Asn)
c.6035T>A (p.Ile2012Asn)
c.10061T>A (p.Ile3354Asn)
c.5813T>A (p.Ile1938Asn)
c.9041T>A (p.Ile3014Asn)
8g.99853570T>CCA371780954VPS13Bc.10256T>C (p.Ile3419Thr)
n.10326T>C
c.*5938T>C (n.*5938T>C)
c.10181T>C (p.Ile3394Thr)
c.10253T>C (p.Ile3418Thr)
c.10178T>C (p.Ile3393Thr)
c.9878T>C (p.Ile3293Thr)
c.7142T>C (p.Ile2381Thr)
c.6035T>C (p.Ile2012Thr)
c.10061T>C (p.Ile3354Thr)
c.5813T>C (p.Ile1938Thr)
c.9041T>C (p.Ile3014Thr)
8g.99853570T>GCA4824906VPS13Bc.10256T>G (p.Ile3419Ser)
n.10326T>G
c.*5938T>G (n.*5938T>G)
c.10181T>G (p.Ile3394Ser)
c.10253T>G (p.Ile3418Ser)
c.10178T>G (p.Ile3393Ser)
c.9878T>G (p.Ile3293Ser)
c.7142T>G (p.Ile2381Ser)
c.6035T>G (p.Ile2012Ser)
c.10061T>G (p.Ile3354Ser)
c.5813T>G (p.Ile1938Ser)
c.9041T>G (p.Ile3014Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853571T>ACA462458094VPS13Bc.10257T>A (p.Ile3419=)
n.10327T>A
c.*5939T>A (n.*5939T>A)
c.10182T>A (p.Ile3394=)
c.10254T>A (p.Ile3418=)
c.10179T>A (p.Ile3393=)
c.9879T>A (p.Ile3293=)
c.7143T>A (p.Ile2381=)
c.6036T>A (p.Ile2012=)
c.10062T>A (p.Ile3354=)
c.5814T>A (p.Ile1938=)
c.9042T>A (p.Ile3014=)
8g.99853571T>CCA462458093VPS13Bc.10257T>C (p.Ile3419=)
n.10327T>C
c.*5939T>C (n.*5939T>C)
c.10182T>C (p.Ile3394=)
c.10254T>C (p.Ile3418=)
c.10179T>C (p.Ile3393=)
c.9879T>C (p.Ile3293=)
c.7143T>C (p.Ile2381=)
c.6036T>C (p.Ile2012=)
c.10062T>C (p.Ile3354=)
c.5814T>C (p.Ile1938=)
c.9042T>C (p.Ile3014=)
8g.99853571T>GCA371780955VPS13Bc.10257T>G (p.Ile3419Met)
n.10327T>G
c.*5939T>G (n.*5939T>G)
c.10182T>G (p.Ile3394Met)
c.10254T>G (p.Ile3418Met)
c.10179T>G (p.Ile3393Met)
c.9879T>G (p.Ile3293Met)
c.7143T>G (p.Ile2381Met)
c.6036T>G (p.Ile2012Met)
c.10062T>G (p.Ile3354Met)
c.5814T>G (p.Ile1938Met)
c.9042T>G (p.Ile3014Met)
8g.99853572T>ACA371780956VPS13Bc.10258T>A (p.Phe3420Ile)
n.10328T>A
c.*5940T>A (n.*5940T>A)
c.10183T>A (p.Phe3395Ile)
c.10255T>A (p.Phe3419Ile)
c.10180T>A (p.Phe3394Ile)
c.9880T>A (p.Phe3294Ile)
c.7144T>A (p.Phe2382Ile)
c.6037T>A (p.Phe2013Ile)
c.10063T>A (p.Phe3355Ile)
c.5815T>A (p.Phe1939Ile)
c.9043T>A (p.Phe3015Ile)
8g.99853572T>CCA371780957VPS13Bc.10258T>C (p.Phe3420Leu)
n.10328T>C
c.*5940T>C (n.*5940T>C)
c.10183T>C (p.Phe3395Leu)
c.10255T>C (p.Phe3419Leu)
c.10180T>C (p.Phe3394Leu)
c.9880T>C (p.Phe3294Leu)
c.7144T>C (p.Phe2382Leu)
c.6037T>C (p.Phe2013Leu)
c.10063T>C (p.Phe3355Leu)
c.5815T>C (p.Phe1939Leu)
c.9043T>C (p.Phe3015Leu)
8g.99853572T>GCA371780958VPS13Bc.10258T>G (p.Phe3420Val)
n.10328T>G
c.*5940T>G (n.*5940T>G)
c.10183T>G (p.Phe3395Val)
c.10255T>G (p.Phe3419Val)
c.10180T>G (p.Phe3394Val)
c.9880T>G (p.Phe3294Val)
c.7144T>G (p.Phe2382Val)
c.6037T>G (p.Phe2013Val)
c.10063T>G (p.Phe3355Val)
c.5815T>G (p.Phe1939Val)
c.9043T>G (p.Phe3015Val)
8g.99853573T>ACA371780959VPS13Bc.10259T>A (p.Phe3420Tyr)
n.10329T>A
c.*5941T>A (n.*5941T>A)
c.10184T>A (p.Phe3395Tyr)
c.10256T>A (p.Phe3419Tyr)
c.10181T>A (p.Phe3394Tyr)
c.9881T>A (p.Phe3294Tyr)
c.7145T>A (p.Phe2382Tyr)
c.6038T>A (p.Phe2013Tyr)
c.10064T>A (p.Phe3355Tyr)
c.5816T>A (p.Phe1939Tyr)
c.9044T>A (p.Phe3015Tyr)
8g.99853573T>CCA371780960VPS13Bc.10259T>C (p.Phe3420Ser)
n.10329T>C
c.*5941T>C (n.*5941T>C)
c.10184T>C (p.Phe3395Ser)
c.10256T>C (p.Phe3419Ser)
c.10181T>C (p.Phe3394Ser)
c.9881T>C (p.Phe3294Ser)
c.7145T>C (p.Phe2382Ser)
c.6038T>C (p.Phe2013Ser)
c.10064T>C (p.Phe3355Ser)
c.5816T>C (p.Phe1939Ser)
c.9044T>C (p.Phe3015Ser)
8g.99853573T>GCA371780961VPS13Bc.10259T>G (p.Phe3420Cys)
n.10329T>G
c.*5941T>G (n.*5941T>G)
c.10184T>G (p.Phe3395Cys)
c.10256T>G (p.Phe3419Cys)
c.10181T>G (p.Phe3394Cys)
c.9881T>G (p.Phe3294Cys)
c.7145T>G (p.Phe2382Cys)
c.6038T>G (p.Phe2013Cys)
c.10064T>G (p.Phe3355Cys)
c.5816T>G (p.Phe1939Cys)
c.9044T>G (p.Phe3015Cys)
8g.99853574T>ACA371780962VPS13Bc.10260T>A (p.Phe3420Leu)
n.10330T>A
c.*5942T>A (n.*5942T>A)
c.10185T>A (p.Phe3395Leu)
c.10257T>A (p.Phe3419Leu)
c.10182T>A (p.Phe3394Leu)
c.9882T>A (p.Phe3294Leu)
c.7146T>A (p.Phe2382Leu)
c.6039T>A (p.Phe2013Leu)
c.10065T>A (p.Phe3355Leu)
c.5817T>A (p.Phe1939Leu)
c.9045T>A (p.Phe3015Leu)
8g.99853574T>CCA462458095VPS13Bc.10260T>C (p.Phe3420=)
n.10330T>C
c.*5942T>C (n.*5942T>C)
c.10185T>C (p.Phe3395=)
c.10257T>C (p.Phe3419=)
c.10182T>C (p.Phe3394=)
c.9882T>C (p.Phe3294=)
c.7146T>C (p.Phe2382=)
c.6039T>C (p.Phe2013=)
c.10065T>C (p.Phe3355=)
c.5817T>C (p.Phe1939=)
c.9045T>C (p.Phe3015=)
8g.99853574T>GCA371780963VPS13Bc.10260T>G (p.Phe3420Leu)
n.10330T>G
c.*5942T>G (n.*5942T>G)
c.10185T>G (p.Phe3395Leu)
c.10257T>G (p.Phe3419Leu)
c.10182T>G (p.Phe3394Leu)
c.9882T>G (p.Phe3294Leu)
c.7146T>G (p.Phe2382Leu)
c.6039T>G (p.Phe2013Leu)
c.10065T>G (p.Phe3355Leu)
c.5817T>G (p.Phe1939Leu)
c.9045T>G (p.Phe3015Leu)
8g.99853575C>ACA371780965VPS13Bc.10261C>A (p.Leu3421Ile)
n.10331C>A
c.*5943C>A (n.*5943C>A)
c.10186C>A (p.Leu3396Ile)
c.10258C>A (p.Leu3420Ile)
c.10183C>A (p.Leu3395Ile)
c.9883C>A (p.Leu3295Ile)
c.7147C>A (p.Leu2383Ile)
c.6040C>A (p.Leu2014Ile)
c.10066C>A (p.Leu3356Ile)
c.5818C>A (p.Leu1940Ile)
c.9046C>A (p.Leu3016Ile)
8g.99853575C>GCA371780966VPS13Bc.10261C>G (p.Leu3421Val)
n.10331C>G
c.*5943C>G (n.*5943C>G)
c.10186C>G (p.Leu3396Val)
c.10258C>G (p.Leu3420Val)
c.10183C>G (p.Leu3395Val)
c.9883C>G (p.Leu3295Val)
c.7147C>G (p.Leu2383Val)
c.6040C>G (p.Leu2014Val)
c.10066C>G (p.Leu3356Val)
c.5818C>G (p.Leu1940Val)
c.9046C>G (p.Leu3016Val)
8g.99853575C>TCA371780964VPS13Bc.10261C>T (p.Leu3421Phe)
n.10331C>T
c.*5943C>T (n.*5943C>T)
c.10186C>T (p.Leu3396Phe)
c.10258C>T (p.Leu3420Phe)
c.10183C>T (p.Leu3395Phe)
c.9883C>T (p.Leu3295Phe)
c.7147C>T (p.Leu2383Phe)
c.6040C>T (p.Leu2014Phe)
c.10066C>T (p.Leu3356Phe)
c.5818C>T (p.Leu1940Phe)
c.9046C>T (p.Leu3016Phe)
8g.99853576T>ACA371780967VPS13Bc.10262T>A (p.Leu3421His)
n.10332T>A
c.*5944T>A (n.*5944T>A)
c.10187T>A (p.Leu3396His)
c.10259T>A (p.Leu3420His)
c.10184T>A (p.Leu3395His)
c.9884T>A (p.Leu3295His)
c.7148T>A (p.Leu2383His)
c.6041T>A (p.Leu2014His)
c.10067T>A (p.Leu3356His)
c.5819T>A (p.Leu1940His)
c.9047T>A (p.Leu3016His)
8g.99853576T>CCA371780968VPS13Bc.10262T>C (p.Leu3421Pro)
n.10332T>C
c.*5944T>C (n.*5944T>C)
c.10187T>C (p.Leu3396Pro)
c.10259T>C (p.Leu3420Pro)
c.10184T>C (p.Leu3395Pro)
c.9884T>C (p.Leu3295Pro)
c.7148T>C (p.Leu2383Pro)
c.6041T>C (p.Leu2014Pro)
c.10067T>C (p.Leu3356Pro)
c.5819T>C (p.Leu1940Pro)
c.9047T>C (p.Leu3016Pro)
8g.99853576T>GCA371780969VPS13Bc.10262T>G (p.Leu3421Arg)
n.10332T>G
c.*5944T>G (n.*5944T>G)
c.10187T>G (p.Leu3396Arg)
c.10259T>G (p.Leu3420Arg)
c.10184T>G (p.Leu3395Arg)
c.9884T>G (p.Leu3295Arg)
c.7148T>G (p.Leu2383Arg)
c.6041T>G (p.Leu2014Arg)
c.10067T>G (p.Leu3356Arg)
c.5819T>G (p.Leu1940Arg)
c.9047T>G (p.Leu3016Arg)
8g.99853577C>ACA462458096VPS13Bc.10263C>A (p.Leu3421=)
n.10333C>A
c.*5945C>A (n.*5945C>A)
c.10188C>A (p.Leu3396=)
c.10260C>A (p.Leu3420=)
c.10185C>A (p.Leu3395=)
c.9885C>A (p.Leu3295=)
c.7149C>A (p.Leu2383=)
c.6042C>A (p.Leu2014=)
c.10068C>A (p.Leu3356=)
c.5820C>A (p.Leu1940=)
c.9048C>A (p.Leu3016=)
8g.99853577C>GCA462458097VPS13Bc.10263C>G (p.Leu3421=)
n.10333C>G
c.*5945C>G (n.*5945C>G)
c.10188C>G (p.Leu3396=)
c.10260C>G (p.Leu3420=)
c.10185C>G (p.Leu3395=)
c.9885C>G (p.Leu3295=)
c.7149C>G (p.Leu2383=)
c.6042C>G (p.Leu2014=)
c.10068C>G (p.Leu3356=)
c.5820C>G (p.Leu1940=)
c.9048C>G (p.Leu3016=)
8g.99853577C>TCA462458098VPS13Bc.10263C>T (p.Leu3421=)
n.10333C>T
c.*5945C>T (n.*5945C>T)
c.10188C>T (p.Leu3396=)
c.10260C>T (p.Leu3420=)
c.10185C>T (p.Leu3395=)
c.9885C>T (p.Leu3295=)
c.7149C>T (p.Leu2383=)
c.6042C>T (p.Leu2014=)
c.10068C>T (p.Leu3356=)
c.5820C>T (p.Leu1940=)
c.9048C>T (p.Leu3016=)
8g.99853578delCA4824907VPS13Bc.10264del (p.Cys3422ValfsTer?)
n.10334del
c.*5946del (n.*5946del)
c.10189del (p.Cys3397ValfsTer?)
c.10261del (p.Cys3421ValfsTer?)
c.10186del (p.Cys3396ValfsTer?)
c.9886del (p.Cys3296ValfsTer?)
c.7150del (p.Cys2384ValfsTer?)
c.6043del (p.Cys2015ValfsTer?)
c.10069del (p.Cys3357ValfsTer?)
c.5821del (p.Cys1941ValfsTer?)
c.9049del (p.Cys3017ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853578T>ACA371780972VPS13Bc.10264T>A (p.Cys3422Ser)
n.10334T>A
c.*5946T>A (n.*5946T>A)
c.10189T>A (p.Cys3397Ser)
c.10261T>A (p.Cys3421Ser)
c.10186T>A (p.Cys3396Ser)
c.9886T>A (p.Cys3296Ser)
c.7150T>A (p.Cys2384Ser)
c.6043T>A (p.Cys2015Ser)
c.10069T>A (p.Cys3357Ser)
c.5821T>A (p.Cys1941Ser)
c.9049T>A (p.Cys3017Ser)
8g.99853578T>CCA371780971VPS13Bc.10264T>C (p.Cys3422Arg)
n.10334T>C
c.*5946T>C (n.*5946T>C)
c.10189T>C (p.Cys3397Arg)
c.10261T>C (p.Cys3421Arg)
c.10186T>C (p.Cys3396Arg)
c.9886T>C (p.Cys3296Arg)
c.7150T>C (p.Cys2384Arg)
c.6043T>C (p.Cys2015Arg)
c.10069T>C (p.Cys3357Arg)
c.5821T>C (p.Cys1941Arg)
c.9049T>C (p.Cys3017Arg)
8g.99853578T>GCA371780970VPS13Bc.10264T>G (p.Cys3422Gly)
n.10334T>G
c.*5946T>G (n.*5946T>G)
c.10189T>G (p.Cys3397Gly)
c.10261T>G (p.Cys3421Gly)
c.10186T>G (p.Cys3396Gly)
c.9886T>G (p.Cys3296Gly)
c.7150T>G (p.Cys2384Gly)
c.6043T>G (p.Cys2015Gly)
c.10069T>G (p.Cys3357Gly)
c.5821T>G (p.Cys1941Gly)
c.9049T>G (p.Cys3017Gly)
8g.99853579delCA371780975VPS13Bc.10265del (p.Cys3422LeufsTer?)
n.10335del
c.*5947del (n.*5947del)
c.10190del (p.Cys3397LeufsTer?)
c.10262del (p.Cys3421LeufsTer?)
c.10187del (p.Cys3396LeufsTer?)
c.9887del (p.Cys3296LeufsTer?)
c.7151del (p.Cys2384LeufsTer?)
c.6044del (p.Cys2015LeufsTer?)
c.10070del (p.Cys3357LeufsTer?)
c.5822del (p.Cys1941LeufsTer?)
c.9050del (p.Cys3017LeufsTer?)
8g.99853579G>ACA371780973VPS13Bc.10265G>A (p.Cys3422Tyr)
n.10335G>A
c.*5947G>A (n.*5947G>A)
c.10190G>A (p.Cys3397Tyr)
c.10262G>A (p.Cys3421Tyr)
c.10187G>A (p.Cys3396Tyr)
c.9887G>A (p.Cys3296Tyr)
c.7151G>A (p.Cys2384Tyr)
c.6044G>A (p.Cys2015Tyr)
c.10070G>A (p.Cys3357Tyr)
c.5822G>A (p.Cys1941Tyr)
c.9050G>A (p.Cys3017Tyr)
 gnomAD v4
8g.99853579G>CCA182314082VPS13Bc.10265G>C (p.Cys3422Ser)
n.10335G>C
c.*5947G>C (n.*5947G>C)
c.10190G>C (p.Cys3397Ser)
c.10262G>C (p.Cys3421Ser)
c.10187G>C (p.Cys3396Ser)
c.9887G>C (p.Cys3296Ser)
c.7151G>C (p.Cys2384Ser)
c.6044G>C (p.Cys2015Ser)
c.10070G>C (p.Cys3357Ser)
c.5822G>C (p.Cys1941Ser)
c.9050G>C (p.Cys3017Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853579G>TCA371780974VPS13Bc.10265G>T (p.Cys3422Phe)
n.10335G>T
c.*5947G>T (n.*5947G>T)
c.10190G>T (p.Cys3397Phe)
c.10262G>T (p.Cys3421Phe)
c.10187G>T (p.Cys3396Phe)
c.9887G>T (p.Cys3296Phe)
c.7151G>T (p.Cys2384Phe)
c.6044G>T (p.Cys2015Phe)
c.10070G>T (p.Cys3357Phe)
c.5822G>T (p.Cys1941Phe)
c.9050G>T (p.Cys3017Phe)
8g.99853579_99853580insGCGCCA2565350650VPS13Bc.10265_10266insGCGC (p.Cys3422TrpfsTer21)
n.10335_10336insGCGC
c.*5947_*5948insGCGC (n.*5947_*5948insGCGC)
c.10190_10191insGCGC (p.Cys3397TrpfsTer21)
c.10262_10263insGCGC (p.Cys3421TrpfsTer21)
c.10187_10188insGCGC (p.Cys3396TrpfsTer21)
c.9887_9888insGCGC (p.Cys3296TrpfsTer21)
c.7151_7152insGCGC (p.Cys2384TrpfsTer21)
c.6044_6045insGCGC (p.Cys2015TrpfsTer21)
c.10070_10071insGCGC (p.Cys3357TrpfsTer21)
c.5822_5823insGCGC (p.Cys1941TrpfsTer21)
c.9050_9051insGCGC (p.Cys3017TrpfsTer21)
8g.99853580T>ACA371780976VPS13Bc.10266T>A (p.Cys3422Ter)
n.10336T>A
c.*5948T>A (n.*5948T>A)
c.10191T>A (p.Cys3397Ter)
c.10263T>A (p.Cys3421Ter)
c.10188T>A (p.Cys3396Ter)
c.9888T>A (p.Cys3296Ter)
c.7152T>A (p.Cys2384Ter)
c.6045T>A (p.Cys2015Ter)
c.10071T>A (p.Cys3357Ter)
c.5823T>A (p.Cys1941Ter)
c.9051T>A (p.Cys3017Ter)
8g.99853580T>CCA462458099VPS13Bc.10266T>C (p.Cys3422=)
n.10336T>C
c.*5948T>C (n.*5948T>C)
c.10191T>C (p.Cys3397=)
c.10263T>C (p.Cys3421=)
c.10188T>C (p.Cys3396=)
c.9888T>C (p.Cys3296=)
c.7152T>C (p.Cys2384=)
c.6045T>C (p.Cys2015=)
c.10071T>C (p.Cys3357=)
c.5823T>C (p.Cys1941=)
c.9051T>C (p.Cys3017=)
8g.99853580T>GCA371780977VPS13Bc.10266T>G (p.Cys3422Trp)
n.10336T>G
c.*5948T>G (n.*5948T>G)
c.10191T>G (p.Cys3397Trp)
c.10263T>G (p.Cys3421Trp)
c.10188T>G (p.Cys3396Trp)
c.9888T>G (p.Cys3296Trp)
c.7152T>G (p.Cys2384Trp)
c.6045T>G (p.Cys2015Trp)
c.10071T>G (p.Cys3357Trp)
c.5823T>G (p.Cys1941Trp)
c.9051T>G (p.Cys3017Trp)
 gnomAD v4
8g.99853580_99853581insCTACA2500557069VPS13Bc.10266_10267insCTA (p.Cys3422_Val3423insLeu)
n.10336_10337insCTA
c.*5948_*5949insCTA (n.*5948_*5949insCTA)
c.10191_10192insCTA (p.Cys3397_Val3398insLeu)
c.10263_10264insCTA (p.Cys3421_Val3422insLeu)
c.10188_10189insCTA (p.Cys3396_Val3397insLeu)
c.9888_9889insCTA (p.Cys3296_Val3297insLeu)
c.7152_7153insCTA (p.Cys2384_Val2385insLeu)
c.6045_6046insCTA (p.Cys2015_Val2016insLeu)
c.10071_10072insCTA (p.Cys3357_Val3358insLeu)
c.5823_5824insCTA (p.Cys1941_Val1942insLeu)
c.9051_9052insCTA (p.Cys3017_Val3018insLeu)
8g.99853581G>ACA371780980VPS13Bc.10267G>A (p.Val3423Met)
n.10337G>A
c.*5949G>A (n.*5949G>A)
c.10192G>A (p.Val3398Met)
c.10264G>A (p.Val3422Met)
c.10189G>A (p.Val3397Met)
c.9889G>A (p.Val3297Met)
c.7153G>A (p.Val2385Met)
c.6046G>A (p.Val2016Met)
c.10072G>A (p.Val3358Met)
c.5824G>A (p.Val1942Met)
c.9052G>A (p.Val3018Met)
8g.99853581G>CCA371780978VPS13Bc.10267G>C (p.Val3423Leu)
n.10337G>C
c.*5949G>C (n.*5949G>C)
c.10192G>C (p.Val3398Leu)
c.10264G>C (p.Val3422Leu)
c.10189G>C (p.Val3397Leu)
c.9889G>C (p.Val3297Leu)
c.7153G>C (p.Val2385Leu)
c.6046G>C (p.Val2016Leu)
c.10072G>C (p.Val3358Leu)
c.5824G>C (p.Val1942Leu)
c.9052G>C (p.Val3018Leu)
8g.99853581G>TCA371780979VPS13Bc.10267G>T (p.Val3423Leu)
n.10337G>T
c.*5949G>T (n.*5949G>T)
c.10192G>T (p.Val3398Leu)
c.10264G>T (p.Val3422Leu)
c.10189G>T (p.Val3397Leu)
c.9889G>T (p.Val3297Leu)
c.7153G>T (p.Val2385Leu)
c.6046G>T (p.Val2016Leu)
c.10072G>T (p.Val3358Leu)
c.5824G>T (p.Val1942Leu)
c.9052G>T (p.Val3018Leu)
8g.99853582T>ACA371780981VPS13Bc.10268T>A (p.Val3423Glu)
n.10338T>A
c.*5950T>A (n.*5950T>A)
c.10193T>A (p.Val3398Glu)
c.10265T>A (p.Val3422Glu)
c.10190T>A (p.Val3397Glu)
c.9890T>A (p.Val3297Glu)
c.7154T>A (p.Val2385Glu)
c.6047T>A (p.Val2016Glu)
c.10073T>A (p.Val3358Glu)
c.5825T>A (p.Val1942Glu)
c.9053T>A (p.Val3018Glu)
8g.99853582T>CCA182314099VPS13Bc.10268T>C (p.Val3423Ala)
n.10338T>C
c.*5950T>C (n.*5950T>C)
c.10193T>C (p.Val3398Ala)
c.10265T>C (p.Val3422Ala)
c.10190T>C (p.Val3397Ala)
c.9890T>C (p.Val3297Ala)
c.7154T>C (p.Val2385Ala)
c.6047T>C (p.Val2016Ala)
c.10073T>C (p.Val3358Ala)
c.5825T>C (p.Val1942Ala)
c.9053T>C (p.Val3018Ala)
 ClinVar dbSNP
8g.99853582T>GCA371780982VPS13Bc.10268T>G (p.Val3423Gly)
n.10338T>G
c.*5950T>G (n.*5950T>G)
c.10193T>G (p.Val3398Gly)
c.10265T>G (p.Val3422Gly)
c.10190T>G (p.Val3397Gly)
c.9890T>G (p.Val3297Gly)
c.7154T>G (p.Val2385Gly)
c.6047T>G (p.Val2016Gly)
c.10073T>G (p.Val3358Gly)
c.5825T>G (p.Val1942Gly)
c.9053T>G (p.Val3018Gly)
8g.99853583G>ACA462458100VPS13Bc.10269G>A (p.Val3423=)
n.10339G>A
c.*5951G>A (n.*5951G>A)
c.10194G>A (p.Val3398=)
c.10266G>A (p.Val3422=)
c.10191G>A (p.Val3397=)
c.9891G>A (p.Val3297=)
c.7155G>A (p.Val2385=)
c.6048G>A (p.Val2016=)
c.10074G>A (p.Val3358=)
c.5826G>A (p.Val1942=)
c.9054G>A (p.Val3018=)
 ClinVar dbSNP
8g.99853583G>CCA462458102VPS13Bc.10269G>C (p.Val3423=)
n.10339G>C
c.*5951G>C (n.*5951G>C)
c.10194G>C (p.Val3398=)
c.10266G>C (p.Val3422=)
c.10191G>C (p.Val3397=)
c.9891G>C (p.Val3297=)
c.7155G>C (p.Val2385=)
c.6048G>C (p.Val2016=)
c.10074G>C (p.Val3358=)
c.5826G>C (p.Val1942=)
c.9054G>C (p.Val3018=)
8g.99853583G>TCA462458101VPS13Bc.10269G>T (p.Val3423=)
n.10339G>T
c.*5951G>T (n.*5951G>T)
c.10194G>T (p.Val3398=)
c.10266G>T (p.Val3422=)
c.10191G>T (p.Val3397=)
c.9891G>T (p.Val3297=)
c.7155G>T (p.Val2385=)
c.6048G>T (p.Val2016=)
c.10074G>T (p.Val3358=)
c.5826G>T (p.Val1942=)
c.9054G>T (p.Val3018=)
8g.99853584G>ACA371780983VPS13Bc.10270G>A (p.Ala3424Thr)
n.10340G>A
c.*5952G>A (n.*5952G>A)
c.10195G>A (p.Ala3399Thr)
c.10267G>A (p.Ala3423Thr)
c.10192G>A (p.Ala3398Thr)
c.9892G>A (p.Ala3298Thr)
c.7156G>A (p.Ala2386Thr)
c.6049G>A (p.Ala2017Thr)
c.10075G>A (p.Ala3359Thr)
c.5827G>A (p.Ala1943Thr)
c.9055G>A (p.Ala3019Thr)
8g.99853584G>CCA371780984VPS13Bc.10270G>C (p.Ala3424Pro)
n.10340G>C
c.*5952G>C (n.*5952G>C)
c.10195G>C (p.Ala3399Pro)
c.10267G>C (p.Ala3423Pro)
c.10192G>C (p.Ala3398Pro)
c.9892G>C (p.Ala3298Pro)
c.7156G>C (p.Ala2386Pro)
c.6049G>C (p.Ala2017Pro)
c.10075G>C (p.Ala3359Pro)
c.5827G>C (p.Ala1943Pro)
c.9055G>C (p.Ala3019Pro)
8g.99853584G>TCA371780985VPS13Bc.10270G>T (p.Ala3424Ser)
n.10340G>T
c.*5952G>T (n.*5952G>T)
c.10195G>T (p.Ala3399Ser)
c.10267G>T (p.Ala3423Ser)
c.10192G>T (p.Ala3398Ser)
c.9892G>T (p.Ala3298Ser)
c.7156G>T (p.Ala2386Ser)
c.6049G>T (p.Ala2017Ser)
c.10075G>T (p.Ala3359Ser)
c.5827G>T (p.Ala1943Ser)
c.9055G>T (p.Ala3019Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853585C>ACA371780987VPS13Bc.10271C>A (p.Ala3424Asp)
n.10341C>A
c.*5953C>A (n.*5953C>A)
c.10196C>A (p.Ala3399Asp)
c.10268C>A (p.Ala3423Asp)
c.10193C>A (p.Ala3398Asp)
c.9893C>A (p.Ala3298Asp)
c.7157C>A (p.Ala2386Asp)
c.6050C>A (p.Ala2017Asp)
c.10076C>A (p.Ala3359Asp)
c.5828C>A (p.Ala1943Asp)
c.9056C>A (p.Ala3019Asp)
 gnomAD v4
8g.99853585C>GCA371780986VPS13Bc.10271C>G (p.Ala3424Gly)
n.10341C>G
c.*5953C>G (n.*5953C>G)
c.10196C>G (p.Ala3399Gly)
c.10268C>G (p.Ala3423Gly)
c.10193C>G (p.Ala3398Gly)
c.9893C>G (p.Ala3298Gly)
c.7157C>G (p.Ala2386Gly)
c.6050C>G (p.Ala2017Gly)
c.10076C>G (p.Ala3359Gly)
c.5828C>G (p.Ala1943Gly)
c.9056C>G (p.Ala3019Gly)
8g.99853585C>TCA4824908VPS13Bc.10271C>T (p.Ala3424Val)
n.10341C>T
c.*5953C>T (n.*5953C>T)
c.10196C>T (p.Ala3399Val)
c.10268C>T (p.Ala3423Val)
c.10193C>T (p.Ala3398Val)
c.9893C>T (p.Ala3298Val)
c.7157C>T (p.Ala2386Val)
c.6050C>T (p.Ala2017Val)
c.10076C>T (p.Ala3359Val)
c.5828C>T (p.Ala1943Val)
c.9056C>T (p.Ala3019Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853586C>ACA462458103VPS13Bc.10272C>A (p.Ala3424=)
n.10342C>A
c.*5954C>A (n.*5954C>A)
c.10197C>A (p.Ala3399=)
c.10269C>A (p.Ala3423=)
c.10194C>A (p.Ala3398=)
c.9894C>A (p.Ala3298=)
c.7158C>A (p.Ala2386=)
c.6051C>A (p.Ala2017=)
c.10077C>A (p.Ala3359=)
c.5829C>A (p.Ala1943=)
c.9057C>A (p.Ala3019=)
 dbSNP gnomAD v3 gnomAD v4
8g.99853586C>GCA462458104VPS13Bc.10272C>G (p.Ala3424=)
n.10342C>G
c.*5954C>G (n.*5954C>G)
c.10197C>G (p.Ala3399=)
c.10269C>G (p.Ala3423=)
c.10194C>G (p.Ala3398=)
c.9894C>G (p.Ala3298=)
c.7158C>G (p.Ala2386=)
c.6051C>G (p.Ala2017=)
c.10077C>G (p.Ala3359=)
c.5829C>G (p.Ala1943=)
c.9057C>G (p.Ala3019=)
8g.99853586C>TCA462458105VPS13Bc.10272C>T (p.Ala3424=)
n.10342C>T
c.*5954C>T (n.*5954C>T)
c.10197C>T (p.Ala3399=)
c.10269C>T (p.Ala3423=)
c.10194C>T (p.Ala3398=)
c.9894C>T (p.Ala3298=)
c.7158C>T (p.Ala2386=)
c.6051C>T (p.Ala2017=)
c.10077C>T (p.Ala3359=)
c.5829C>T (p.Ala1943=)
c.9057C>T (p.Ala3019=)
 ClinVar dbSNP gnomAD v4
8g.99853587C>ACA371780988VPS13Bc.10273C>A (p.Pro3425Thr)
n.10343C>A
c.*5955C>A (n.*5955C>A)
c.10198C>A (p.Pro3400Thr)
c.10270C>A (p.Pro3424Thr)
c.10195C>A (p.Pro3399Thr)
c.9895C>A (p.Pro3299Thr)
c.7159C>A (p.Pro2387Thr)
c.6052C>A (p.Pro2018Thr)
c.10078C>A (p.Pro3360Thr)
c.5830C>A (p.Pro1944Thr)
c.9058C>A (p.Pro3020Thr)
8g.99853587C>GCA371780989VPS13Bc.10273C>G (p.Pro3425Ala)
n.10343C>G
c.*5955C>G (n.*5955C>G)
c.10198C>G (p.Pro3400Ala)
c.10270C>G (p.Pro3424Ala)
c.10195C>G (p.Pro3399Ala)
c.9895C>G (p.Pro3299Ala)
c.7159C>G (p.Pro2387Ala)
c.6052C>G (p.Pro2018Ala)
c.10078C>G (p.Pro3360Ala)
c.5830C>G (p.Pro1944Ala)
c.9058C>G (p.Pro3020Ala)
8g.99853587C>TCA371780990VPS13Bc.10273C>T (p.Pro3425Ser)
n.10343C>T
c.*5955C>T (n.*5955C>T)
c.10198C>T (p.Pro3400Ser)
c.10270C>T (p.Pro3424Ser)
c.10195C>T (p.Pro3399Ser)
c.9895C>T (p.Pro3299Ser)
c.7159C>T (p.Pro2387Ser)
c.6052C>T (p.Pro2018Ser)
c.10078C>T (p.Pro3360Ser)
c.5830C>T (p.Pro1944Ser)
c.9058C>T (p.Pro3020Ser)
 ClinVar dbSNP gnomAD v4
8g.99853588C>ACA371780991VPS13Bc.10274C>A (p.Pro3425Gln)
n.10344C>A
c.*5956C>A (n.*5956C>A)
c.10199C>A (p.Pro3400Gln)
c.10271C>A (p.Pro3424Gln)
c.10196C>A (p.Pro3399Gln)
c.9896C>A (p.Pro3299Gln)
c.7160C>A (p.Pro2387Gln)
c.6053C>A (p.Pro2018Gln)
c.10079C>A (p.Pro3360Gln)
c.5831C>A (p.Pro1944Gln)
c.9059C>A (p.Pro3020Gln)
8g.99853588C>GCA182314107VPS13Bc.10274C>G (p.Pro3425Arg)
n.10344C>G
c.*5956C>G (n.*5956C>G)
c.10199C>G (p.Pro3400Arg)
c.10271C>G (p.Pro3424Arg)
c.10196C>G (p.Pro3399Arg)
c.9896C>G (p.Pro3299Arg)
c.7160C>G (p.Pro2387Arg)
c.6053C>G (p.Pro2018Arg)
c.10079C>G (p.Pro3360Arg)
c.5831C>G (p.Pro1944Arg)
c.9059C>G (p.Pro3020Arg)
 ClinVar dbSNP gnomAD v4
8g.99853588C>TCA231629VPS13Bc.10274C>T (p.Pro3425Leu)
n.10344C>T
c.*5956C>T (n.*5956C>T)
c.10199C>T (p.Pro3400Leu)
c.10271C>T (p.Pro3424Leu)
c.10196C>T (p.Pro3399Leu)
c.9896C>T (p.Pro3299Leu)
c.7160C>T (p.Pro2387Leu)
c.6053C>T (p.Pro2018Leu)
c.10079C>T (p.Pro3360Leu)
c.5831C>T (p.Pro1944Leu)
c.9059C>T (p.Pro3020Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853589G>ACA4824909VPS13Bc.10275G>A (p.Pro3425=)
n.10345G>A
c.*5957G>A (n.*5957G>A)
c.10200G>A (p.Pro3400=)
c.10272G>A (p.Pro3424=)
c.10197G>A (p.Pro3399=)
c.9897G>A (p.Pro3299=)
c.7161G>A (p.Pro2387=)
c.6054G>A (p.Pro2018=)
c.10080G>A (p.Pro3360=)
c.5832G>A (p.Pro1944=)
c.9060G>A (p.Pro3020=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853589G>CCA462458106VPS13Bc.10275G>C (p.Pro3425=)
n.10345G>C
c.*5957G>C (n.*5957G>C)
c.10200G>C (p.Pro3400=)
c.10272G>C (p.Pro3424=)
c.10197G>C (p.Pro3399=)
c.9897G>C (p.Pro3299=)
c.7161G>C (p.Pro2387=)
c.6054G>C (p.Pro2018=)
c.10080G>C (p.Pro3360=)
c.5832G>C (p.Pro1944=)
c.9060G>C (p.Pro3020=)
 gnomAD v4
8g.99853589G>TCA462458107VPS13Bc.10275G>T (p.Pro3425=)
n.10345G>T
c.*5957G>T (n.*5957G>T)
c.10200G>T (p.Pro3400=)
c.10272G>T (p.Pro3424=)
c.10197G>T (p.Pro3399=)
c.9897G>T (p.Pro3299=)
c.7161G>T (p.Pro2387=)
c.6054G>T (p.Pro2018=)
c.10080G>T (p.Pro3360=)
c.5832G>T (p.Pro1944=)
c.9060G>T (p.Pro3020=)
 dbSNP gnomAD v4
8g.99853591dupCA2688071965VPS13Bc.10277dup (p.Ala3427SerfsTer15)
n.10347dup
c.*5959dup (n.*5959dup)
c.10202dup (p.Ala3402SerfsTer15)
c.10274dup (p.Ala3426SerfsTer15)
c.10199dup (p.Ala3401SerfsTer15)
c.9899dup (p.Ala3301SerfsTer15)
c.7163dup (p.Ala2389SerfsTer15)
c.6056dup (p.Ala2020SerfsTer15)
c.10082dup (p.Ala3362SerfsTer15)
c.5834dup (p.Ala1946SerfsTer15)
c.9062dup (p.Ala3022SerfsTer15)
 gnomAD v4
8g.99853591delCA2688071966VPS13Bc.10277del (p.Gly3426GlufsTer29)
n.10347del
c.*5959del (n.*5959del)
c.10202del (p.Gly3401GlufsTer29)
c.10274del (p.Gly3425GlufsTer29)
c.10199del (p.Gly3400GlufsTer29)
c.9899del (p.Gly3300GlufsTer29)
c.7163del (p.Gly2388GlufsTer29)
c.6056del (p.Gly2019GlufsTer29)
c.10082del (p.Gly3361GlufsTer29)
c.5834del (p.Gly1945GlufsTer29)
c.9062del (p.Gly3021GlufsTer29)
 gnomAD v4
8g.99853590G>ACA371780992VPS13Bc.10276G>A (p.Gly3426Arg)
n.10346G>A
c.*5958G>A (n.*5958G>A)
c.10201G>A (p.Gly3401Arg)
c.10273G>A (p.Gly3425Arg)
c.10198G>A (p.Gly3400Arg)
c.9898G>A (p.Gly3300Arg)
c.7162G>A (p.Gly2388Arg)
c.6055G>A (p.Gly2019Arg)
c.10081G>A (p.Gly3361Arg)
c.5833G>A (p.Gly1945Arg)
c.9061G>A (p.Gly3021Arg)
8g.99853590G>CCA371780994VPS13Bc.10276G>C (p.Gly3426Arg)
n.10346G>C
c.*5958G>C (n.*5958G>C)
c.10201G>C (p.Gly3401Arg)
c.10273G>C (p.Gly3425Arg)
c.10198G>C (p.Gly3400Arg)
c.9898G>C (p.Gly3300Arg)
c.7162G>C (p.Gly2388Arg)
c.6055G>C (p.Gly2019Arg)
c.10081G>C (p.Gly3361Arg)
c.5833G>C (p.Gly1945Arg)
c.9061G>C (p.Gly3021Arg)
8g.99853590G>TCA371780993VPS13Bc.10276G>T (p.Gly3426Ter)
n.10346G>T
c.*5958G>T (n.*5958G>T)
c.10201G>T (p.Gly3401Ter)
c.10273G>T (p.Gly3425Ter)
c.10198G>T (p.Gly3400Ter)
c.9898G>T (p.Gly3300Ter)
c.7162G>T (p.Gly2388Ter)
c.6055G>T (p.Gly2019Ter)
c.10081G>T (p.Gly3361Ter)
c.5833G>T (p.Gly1945Ter)
c.9061G>T (p.Gly3021Ter)
8g.99853591G>ACA371780995VPS13Bc.10277G>A (p.Gly3426Glu)
n.10347G>A
c.*5959G>A (n.*5959G>A)
c.10202G>A (p.Gly3401Glu)
c.10274G>A (p.Gly3425Glu)
c.10199G>A (p.Gly3400Glu)
c.9899G>A (p.Gly3300Glu)
c.7163G>A (p.Gly2388Glu)
c.6056G>A (p.Gly2019Glu)
c.10082G>A (p.Gly3361Glu)
c.5834G>A (p.Gly1945Glu)
c.9062G>A (p.Gly3021Glu)
8g.99853591G>CCA371780996VPS13Bc.10277G>C (p.Gly3426Ala)
n.10347G>C
c.*5959G>C (n.*5959G>C)
c.10202G>C (p.Gly3401Ala)
c.10274G>C (p.Gly3425Ala)
c.10199G>C (p.Gly3400Ala)
c.9899G>C (p.Gly3300Ala)
c.7163G>C (p.Gly2388Ala)
c.6056G>C (p.Gly2019Ala)
c.10082G>C (p.Gly3361Ala)
c.5834G>C (p.Gly1945Ala)
c.9062G>C (p.Gly3021Ala)
8g.99853591G>TCA371780997VPS13Bc.10277G>T (p.Gly3426Val)
n.10347G>T
c.*5959G>T (n.*5959G>T)
c.10202G>T (p.Gly3401Val)
c.10274G>T (p.Gly3425Val)
c.10199G>T (p.Gly3400Val)
c.9899G>T (p.Gly3300Val)
c.7163G>T (p.Gly2388Val)
c.6056G>T (p.Gly2019Val)
c.10082G>T (p.Gly3361Val)
c.5834G>T (p.Gly1945Val)
c.9062G>T (p.Gly3021Val)
8g.99853592A>CCA462458108VPS13Bc.10278A>C (p.Gly3426=)
n.10348A>C
c.*5960A>C (n.*5960A>C)
c.10203A>C (p.Gly3401=)
c.10275A>C (p.Gly3425=)
c.10200A>C (p.Gly3400=)
c.9900A>C (p.Gly3300=)
c.7164A>C (p.Gly2388=)
c.6057A>C (p.Gly2019=)
c.10083A>C (p.Gly3361=)
c.5835A>C (p.Gly1945=)
c.9063A>C (p.Gly3021=)
8g.99853592A>GCA462458109VPS13Bc.10278A>G (p.Gly3426=)
n.10348A>G
c.*5960A>G (n.*5960A>G)
c.10203A>G (p.Gly3401=)
c.10275A>G (p.Gly3425=)
c.10200A>G (p.Gly3400=)
c.9900A>G (p.Gly3300=)
c.7164A>G (p.Gly2388=)
c.6057A>G (p.Gly2019=)
c.10083A>G (p.Gly3361=)
c.5835A>G (p.Gly1945=)
c.9063A>G (p.Gly3021=)
 gnomAD v4
8g.99853592A>TCA462458110VPS13Bc.10278A>T (p.Gly3426=)
n.10348A>T
c.*5960A>T (n.*5960A>T)
c.10203A>T (p.Gly3401=)
c.10275A>T (p.Gly3425=)
c.10200A>T (p.Gly3400=)
c.9900A>T (p.Gly3300=)
c.7164A>T (p.Gly2388=)
c.6057A>T (p.Gly2019=)
c.10083A>T (p.Gly3361=)
c.5835A>T (p.Gly1945=)
c.9063A>T (p.Gly3021=)
 ClinVar
8g.99853593G>ACA371780998VPS13Bc.10279G>A (p.Ala3427Thr)
n.10349G>A
c.*5961G>A (n.*5961G>A)
c.10204G>A (p.Ala3402Thr)
c.10276G>A (p.Ala3426Thr)
c.10201G>A (p.Ala3401Thr)
c.9901G>A (p.Ala3301Thr)
c.7165G>A (p.Ala2389Thr)
c.6058G>A (p.Ala2020Thr)
c.10084G>A (p.Ala3362Thr)
c.5836G>A (p.Ala1946Thr)
c.9064G>A (p.Ala3022Thr)
8g.99853593G>CCA371780999VPS13Bc.10279G>C (p.Ala3427Pro)
n.10349G>C
c.*5961G>C (n.*5961G>C)
c.10204G>C (p.Ala3402Pro)
c.10276G>C (p.Ala3426Pro)
c.10201G>C (p.Ala3401Pro)
c.9901G>C (p.Ala3301Pro)
c.7165G>C (p.Ala2389Pro)
c.6058G>C (p.Ala2020Pro)
c.10084G>C (p.Ala3362Pro)
c.5836G>C (p.Ala1946Pro)
c.9064G>C (p.Ala3022Pro)
8g.99853593G>TCA371781001VPS13Bc.10279G>T (p.Ala3427Ser)
n.10349G>T
c.*5961G>T (n.*5961G>T)
c.10204G>T (p.Ala3402Ser)
c.10276G>T (p.Ala3426Ser)
c.10201G>T (p.Ala3401Ser)
c.9901G>T (p.Ala3301Ser)
c.7165G>T (p.Ala2389Ser)
c.6058G>T (p.Ala2020Ser)
c.10084G>T (p.Ala3362Ser)
c.5836G>T (p.Ala1946Ser)
c.9064G>T (p.Ala3022Ser)
8g.99853594C>ACA371781003VPS13Bc.10280C>A (p.Ala3427Asp)
n.10350C>A
c.*5962C>A (n.*5962C>A)
c.10205C>A (p.Ala3402Asp)
c.10277C>A (p.Ala3426Asp)
c.10202C>A (p.Ala3401Asp)
c.9902C>A (p.Ala3301Asp)
c.7166C>A (p.Ala2389Asp)
c.6059C>A (p.Ala2020Asp)
c.10085C>A (p.Ala3362Asp)
c.5837C>A (p.Ala1946Asp)
c.9065C>A (p.Ala3022Asp)
8g.99853594C>GCA371781004VPS13Bc.10280C>G (p.Ala3427Gly)
n.10350C>G
c.*5962C>G (n.*5962C>G)
c.10205C>G (p.Ala3402Gly)
c.10277C>G (p.Ala3426Gly)
c.10202C>G (p.Ala3401Gly)
c.9902C>G (p.Ala3301Gly)
c.7166C>G (p.Ala2389Gly)
c.6059C>G (p.Ala2020Gly)
c.10085C>G (p.Ala3362Gly)
c.5837C>G (p.Ala1946Gly)
c.9065C>G (p.Ala3022Gly)
8g.99853594C>TCA371781005VPS13Bc.10280C>T (p.Ala3427Val)
n.10350C>T
c.*5962C>T (n.*5962C>T)
c.10205C>T (p.Ala3402Val)
c.10277C>T (p.Ala3426Val)
c.10202C>T (p.Ala3401Val)
c.9902C>T (p.Ala3301Val)
c.7166C>T (p.Ala2389Val)
c.6059C>T (p.Ala2020Val)
c.10085C>T (p.Ala3362Val)
c.5837C>T (p.Ala1946Val)
c.9065C>T (p.Ala3022Val)
8g.99853595T>ACA462458111VPS13Bc.10281T>A (p.Ala3427=)
n.10351T>A
c.*5963T>A (n.*5963T>A)
c.10206T>A (p.Ala3402=)
c.10278T>A (p.Ala3426=)
c.10203T>A (p.Ala3401=)
c.9903T>A (p.Ala3301=)
c.7167T>A (p.Ala2389=)
c.6060T>A (p.Ala2020=)
c.10086T>A (p.Ala3362=)
c.5838T>A (p.Ala1946=)
c.9066T>A (p.Ala3022=)
8g.99853595T>CCA462458112VPS13Bc.10281T>C (p.Ala3427=)
n.10351T>C
c.*5963T>C (n.*5963T>C)
c.10206T>C (p.Ala3402=)
c.10278T>C (p.Ala3426=)
c.10203T>C (p.Ala3401=)
c.9903T>C (p.Ala3301=)
c.7167T>C (p.Ala2389=)
c.6060T>C (p.Ala2020=)
c.10086T>C (p.Ala3362=)
c.5838T>C (p.Ala1946=)
c.9066T>C (p.Ala3022=)
8g.99853595T>GCA462458113VPS13Bc.10281T>G (p.Ala3427=)
n.10351T>G
c.*5963T>G (n.*5963T>G)
c.10206T>G (p.Ala3402=)
c.10278T>G (p.Ala3426=)
c.10203T>G (p.Ala3401=)
c.9903T>G (p.Ala3301=)
c.7167T>G (p.Ala2389=)
c.6060T>G (p.Ala2020=)
c.10086T>G (p.Ala3362=)
c.5838T>G (p.Ala1946=)
c.9066T>G (p.Ala3022=)
8g.99853596G>ACA371781006VPS13Bc.10282G>A (p.Gly3428Ser)
n.10352G>A
c.*5964G>A (n.*5964G>A)
c.10207G>A (p.Gly3403Ser)
c.10279G>A (p.Gly3427Ser)
c.10204G>A (p.Gly3402Ser)
c.9904G>A (p.Gly3302Ser)
c.7168G>A (p.Gly2390Ser)
c.6061G>A (p.Gly2021Ser)
c.10087G>A (p.Gly3363Ser)
c.5839G>A (p.Gly1947Ser)
c.9067G>A (p.Gly3023Ser)
8g.99853596G>CCA371781007VPS13Bc.10282G>C (p.Gly3428Arg)
n.10352G>C
c.*5964G>C (n.*5964G>C)
c.10207G>C (p.Gly3403Arg)
c.10279G>C (p.Gly3427Arg)
c.10204G>C (p.Gly3402Arg)
c.9904G>C (p.Gly3302Arg)
c.7168G>C (p.Gly2390Arg)
c.6061G>C (p.Gly2021Arg)
c.10087G>C (p.Gly3363Arg)
c.5839G>C (p.Gly1947Arg)
c.9067G>C (p.Gly3023Arg)
8g.99853596G>TCA371781008VPS13Bc.10282G>T (p.Gly3428Cys)
n.10352G>T
c.*5964G>T (n.*5964G>T)
c.10207G>T (p.Gly3403Cys)
c.10279G>T (p.Gly3427Cys)
c.10204G>T (p.Gly3402Cys)
c.9904G>T (p.Gly3302Cys)
c.7168G>T (p.Gly2390Cys)
c.6061G>T (p.Gly2021Cys)
c.10087G>T (p.Gly3363Cys)
c.5839G>T (p.Gly1947Cys)
c.9067G>T (p.Gly3023Cys)
 gnomAD v4
8g.99853597G>ACA371781009VPS13Bc.10283G>A (p.Gly3428Asp)
n.10353G>A
c.*5965G>A (n.*5965G>A)
c.10208G>A (p.Gly3403Asp)
c.10280G>A (p.Gly3427Asp)
c.10205G>A (p.Gly3402Asp)
c.9905G>A (p.Gly3302Asp)
c.7169G>A (p.Gly2390Asp)
c.6062G>A (p.Gly2021Asp)
c.10088G>A (p.Gly3363Asp)
c.5840G>A (p.Gly1947Asp)
c.9068G>A (p.Gly3023Asp)
 ClinVar
8g.99853597G>CCA371781011VPS13Bc.10283G>C (p.Gly3428Ala)
n.10353G>C
c.*5965G>C (n.*5965G>C)
c.10208G>C (p.Gly3403Ala)
c.10280G>C (p.Gly3427Ala)
c.10205G>C (p.Gly3402Ala)
c.9905G>C (p.Gly3302Ala)
c.7169G>C (p.Gly2390Ala)
c.6062G>C (p.Gly2021Ala)
c.10088G>C (p.Gly3363Ala)
c.5840G>C (p.Gly1947Ala)
c.9068G>C (p.Gly3023Ala)
8g.99853597G>TCA371781010VPS13Bc.10283G>T (p.Gly3428Val)
n.10353G>T
c.*5965G>T (n.*5965G>T)
c.10208G>T (p.Gly3403Val)
c.10280G>T (p.Gly3427Val)
c.10205G>T (p.Gly3402Val)
c.9905G>T (p.Gly3302Val)
c.7169G>T (p.Gly2390Val)
c.6062G>T (p.Gly2021Val)
c.10088G>T (p.Gly3363Val)
c.5840G>T (p.Gly1947Val)
c.9068G>T (p.Gly3023Val)
8g.99853598T>ACA462458114VPS13Bc.10284T>A (p.Gly3428=)
n.10354T>A
c.*5966T>A (n.*5966T>A)
c.10209T>A (p.Gly3403=)
c.10281T>A (p.Gly3427=)
c.10206T>A (p.Gly3402=)
c.9906T>A (p.Gly3302=)
c.7170T>A (p.Gly2390=)
c.6063T>A (p.Gly2021=)
c.10089T>A (p.Gly3363=)
c.5841T>A (p.Gly1947=)
c.9069T>A (p.Gly3023=)
8g.99853598T>CCA462458115VPS13Bc.10284T>C (p.Gly3428=)
n.10354T>C
c.*5966T>C (n.*5966T>C)
c.10209T>C (p.Gly3403=)
c.10281T>C (p.Gly3427=)
c.10206T>C (p.Gly3402=)
c.9906T>C (p.Gly3302=)
c.7170T>C (p.Gly2390=)
c.6063T>C (p.Gly2021=)
c.10089T>C (p.Gly3363=)
c.5841T>C (p.Gly1947=)
c.9069T>C (p.Gly3023=)
 gnomAD v4
8g.99853598T>GCA462458116VPS13Bc.10284T>G (p.Gly3428=)
n.10354T>G
c.*5966T>G (n.*5966T>G)
c.10209T>G (p.Gly3403=)
c.10281T>G (p.Gly3427=)
c.10206T>G (p.Gly3402=)
c.9906T>G (p.Gly3302=)
c.7170T>G (p.Gly2390=)
c.6063T>G (p.Gly2021=)
c.10089T>G (p.Gly3363=)
c.5841T>G (p.Gly1947=)
c.9069T>G (p.Gly3023=)
8g.99853598dupCA2580079335VPS13Bc.10284dup (p.Pro3429SerfsTer13)
n.10354dup
c.*5966dup (n.*5966dup)
c.10209dup (p.Pro3404SerfsTer13)
c.10281dup (p.Pro3428SerfsTer13)
c.10206dup (p.Pro3403SerfsTer13)
c.9906dup (p.Pro3303SerfsTer13)
c.7170dup (p.Pro2391SerfsTer13)
c.6063dup (p.Pro2022SerfsTer13)
c.10089dup (p.Pro3364SerfsTer13)
c.5841dup (p.Pro1948SerfsTer13)
c.9069dup (p.Pro3024SerfsTer13)
 ClinVar
8g.99853599C>ACA371781012VPS13Bc.10285C>A (p.Pro3429Thr)
n.10355C>A
c.*5967C>A (n.*5967C>A)
c.10210C>A (p.Pro3404Thr)
c.10282C>A (p.Pro3428Thr)
c.10207C>A (p.Pro3403Thr)
c.9907C>A (p.Pro3303Thr)
c.7171C>A (p.Pro2391Thr)
c.6064C>A (p.Pro2022Thr)
c.10090C>A (p.Pro3364Thr)
c.5842C>A (p.Pro1948Thr)
c.9070C>A (p.Pro3024Thr)
8g.99853599C>GCA371781013VPS13Bc.10285C>G (p.Pro3429Ala)
n.10355C>G
c.*5967C>G (n.*5967C>G)
c.10210C>G (p.Pro3404Ala)
c.10282C>G (p.Pro3428Ala)
c.10207C>G (p.Pro3403Ala)
c.9907C>G (p.Pro3303Ala)
c.7171C>G (p.Pro2391Ala)
c.6064C>G (p.Pro2022Ala)
c.10090C>G (p.Pro3364Ala)
c.5842C>G (p.Pro1948Ala)
c.9070C>G (p.Pro3024Ala)
8g.99853599C>TCA371781014VPS13Bc.10285C>T (p.Pro3429Ser)
n.10355C>T
c.*5967C>T (n.*5967C>T)
c.10210C>T (p.Pro3404Ser)
c.10282C>T (p.Pro3428Ser)
c.10207C>T (p.Pro3403Ser)
c.9907C>T (p.Pro3303Ser)
c.7171C>T (p.Pro2391Ser)
c.6064C>T (p.Pro2022Ser)
c.10090C>T (p.Pro3364Ser)
c.5842C>T (p.Pro1948Ser)
c.9070C>T (p.Pro3024Ser)
 gnomAD v4
8g.99853600C>ACA371781015VPS13Bc.10286C>A (p.Pro3429His)
n.10356C>A
c.*5968C>A (n.*5968C>A)
c.10211C>A (p.Pro3404His)
c.10283C>A (p.Pro3428His)
c.10208C>A (p.Pro3403His)
c.9908C>A (p.Pro3303His)
c.7172C>A (p.Pro2391His)
c.6065C>A (p.Pro2022His)
c.10091C>A (p.Pro3364His)
c.5843C>A (p.Pro1948His)
c.9071C>A (p.Pro3024His)
8g.99853600C>GCA371781016VPS13Bc.10286C>G (p.Pro3429Arg)
n.10356C>G
c.*5968C>G (n.*5968C>G)
c.10211C>G (p.Pro3404Arg)
c.10283C>G (p.Pro3428Arg)
c.10208C>G (p.Pro3403Arg)
c.9908C>G (p.Pro3303Arg)
c.7172C>G (p.Pro2391Arg)
c.6065C>G (p.Pro2022Arg)
c.10091C>G (p.Pro3364Arg)
c.5843C>G (p.Pro1948Arg)
c.9071C>G (p.Pro3024Arg)
8g.99853600C>TCA371781017VPS13Bc.10286C>T (p.Pro3429Leu)
n.10356C>T
c.*5968C>T (n.*5968C>T)
c.10211C>T (p.Pro3404Leu)
c.10283C>T (p.Pro3428Leu)
c.10208C>T (p.Pro3403Leu)
c.9908C>T (p.Pro3303Leu)
c.7172C>T (p.Pro2391Leu)
c.6065C>T (p.Pro2022Leu)
c.10091C>T (p.Pro3364Leu)
c.5843C>T (p.Pro1948Leu)
c.9071C>T (p.Pro3024Leu)
 COSMIC COSMIC
8g.99853601C>ACA462458117VPS13Bc.10287C>A (p.Pro3429=)
n.10357C>A
c.*5969C>A (n.*5969C>A)
c.10212C>A (p.Pro3404=)
c.10284C>A (p.Pro3428=)
c.10209C>A (p.Pro3403=)
c.9909C>A (p.Pro3303=)
c.7173C>A (p.Pro2391=)
c.6066C>A (p.Pro2022=)
c.10092C>A (p.Pro3364=)
c.5844C>A (p.Pro1948=)
c.9072C>A (p.Pro3024=)
8g.99853601C>GCA462458118VPS13Bc.10287C>G (p.Pro3429=)
n.10357C>G
c.*5969C>G (n.*5969C>G)
c.10212C>G (p.Pro3404=)
c.10284C>G (p.Pro3428=)
c.10209C>G (p.Pro3403=)
c.9909C>G (p.Pro3303=)
c.7173C>G (p.Pro2391=)
c.6066C>G (p.Pro2022=)
c.10092C>G (p.Pro3364=)
c.5844C>G (p.Pro1948=)
c.9072C>G (p.Pro3024=)
8g.99853601C>TCA462458119VPS13Bc.10287C>T (p.Pro3429=)
n.10357C>T
c.*5969C>T (n.*5969C>T)
c.10212C>T (p.Pro3404=)
c.10284C>T (p.Pro3428=)
c.10209C>T (p.Pro3403=)
c.9909C>T (p.Pro3303=)
c.7173C>T (p.Pro2391=)
c.6066C>T (p.Pro2022=)
c.10092C>T (p.Pro3364=)
c.5844C>T (p.Pro1948=)
c.9072C>T (p.Pro3024=)
8g.99853604_99853605insTCCTCCA2740966430VPS13Bc.10290_10291insTCCTC (p.Pro3431SerfsTer26)
n.10360_10361insTCCTC
c.*5972_*5973insTCCTC (n.*5972_*5973insTCCTC)
c.10215_10216insTCCTC (p.Pro3406SerfsTer26)
c.10287_10288insTCCTC (p.Pro3430SerfsTer26)
c.10212_10213insTCCTC (p.Pro3405SerfsTer26)
c.9912_9913insTCCTC (p.Pro3305SerfsTer26)
c.7176_7177insTCCTC (p.Pro2393SerfsTer26)
c.6069_6070insTCCTC (p.Pro2024SerfsTer26)
c.10095_10096insTCCTC (p.Pro3366SerfsTer26)
c.5847_5848insTCCTC (p.Pro1950SerfsTer26)
c.9075_9076insTCCTC (p.Pro3026SerfsTer26)
8g.99853602C>ACA371781018VPS13Bc.10288C>A (p.Leu3430Ile)
n.10358C>A
c.*5970C>A (n.*5970C>A)
c.10213C>A (p.Leu3405Ile)
c.10285C>A (p.Leu3429Ile)
c.10210C>A (p.Leu3404Ile)
c.9910C>A (p.Leu3304Ile)
c.7174C>A (p.Leu2392Ile)
c.6067C>A (p.Leu2023Ile)
c.10093C>A (p.Leu3365Ile)
c.5845C>A (p.Leu1949Ile)
c.9073C>A (p.Leu3025Ile)
8g.99853602C>GCA371781019VPS13Bc.10288C>G (p.Leu3430Val)
n.10358C>G
c.*5970C>G (n.*5970C>G)
c.10213C>G (p.Leu3405Val)
c.10285C>G (p.Leu3429Val)
c.10210C>G (p.Leu3404Val)
c.9910C>G (p.Leu3304Val)
c.7174C>G (p.Leu2392Val)
c.6067C>G (p.Leu2023Val)
c.10093C>G (p.Leu3365Val)
c.5845C>G (p.Leu1949Val)
c.9073C>G (p.Leu3025Val)
8g.99853602C>TCA371781020VPS13Bc.10288C>T (p.Leu3430Phe)
n.10358C>T
c.*5970C>T (n.*5970C>T)
c.10213C>T (p.Leu3405Phe)
c.10285C>T (p.Leu3429Phe)
c.10210C>T (p.Leu3404Phe)
c.9910C>T (p.Leu3304Phe)
c.7174C>T (p.Leu2392Phe)
c.6067C>T (p.Leu2023Phe)
c.10093C>T (p.Leu3365Phe)
c.5845C>T (p.Leu1949Phe)
c.9073C>T (p.Leu3025Phe)
8g.99853603T>ACA371781021VPS13Bc.10289T>A (p.Leu3430His)
n.10359T>A
c.*5971T>A (n.*5971T>A)
c.10214T>A (p.Leu3405His)
c.10286T>A (p.Leu3429His)
c.10211T>A (p.Leu3404His)
c.9911T>A (p.Leu3304His)
c.7175T>A (p.Leu2392His)
c.6068T>A (p.Leu2023His)
c.10094T>A (p.Leu3365His)
c.5846T>A (p.Leu1949His)
c.9074T>A (p.Leu3025His)
8g.99853603T>CCA371781022VPS13Bc.10289T>C (p.Leu3430Pro)
n.10359T>C
c.*5971T>C (n.*5971T>C)
c.10214T>C (p.Leu3405Pro)
c.10286T>C (p.Leu3429Pro)
c.10211T>C (p.Leu3404Pro)
c.9911T>C (p.Leu3304Pro)
c.7175T>C (p.Leu2392Pro)
c.6068T>C (p.Leu2023Pro)
c.10094T>C (p.Leu3365Pro)
c.5846T>C (p.Leu1949Pro)
c.9074T>C (p.Leu3025Pro)
 gnomAD v4
8g.99853603T>GCA371781023VPS13Bc.10289T>G (p.Leu3430Arg)
n.10359T>G
c.*5971T>G (n.*5971T>G)
c.10214T>G (p.Leu3405Arg)
c.10286T>G (p.Leu3429Arg)
c.10211T>G (p.Leu3404Arg)
c.9911T>G (p.Leu3304Arg)
c.7175T>G (p.Leu2392Arg)
c.6068T>G (p.Leu2023Arg)
c.10094T>G (p.Leu3365Arg)
c.5846T>G (p.Leu1949Arg)
c.9074T>G (p.Leu3025Arg)
8g.99853604C>ACA462458120VPS13Bc.10290C>A (p.Leu3430=)
n.10360C>A
c.*5972C>A (n.*5972C>A)
c.10215C>A (p.Leu3405=)
c.10287C>A (p.Leu3429=)
c.10212C>A (p.Leu3404=)
c.9912C>A (p.Leu3304=)
c.7176C>A (p.Leu2392=)
c.6069C>A (p.Leu2023=)
c.10095C>A (p.Leu3365=)
c.5847C>A (p.Leu1949=)
c.9075C>A (p.Leu3025=)
8g.99853604C>GCA462458121VPS13Bc.10290C>G (p.Leu3430=)
n.10360C>G
c.*5972C>G (n.*5972C>G)
c.10215C>G (p.Leu3405=)
c.10287C>G (p.Leu3429=)
c.10212C>G (p.Leu3404=)
c.9912C>G (p.Leu3304=)
c.7176C>G (p.Leu2392=)
c.6069C>G (p.Leu2023=)
c.10095C>G (p.Leu3365=)
c.5847C>G (p.Leu1949=)
c.9075C>G (p.Leu3025=)
8g.99853604C>TCA462458122VPS13Bc.10290C>T (p.Leu3430=)
n.10360C>T
c.*5972C>T (n.*5972C>T)
c.10215C>T (p.Leu3405=)
c.10287C>T (p.Leu3429=)
c.10212C>T (p.Leu3404=)
c.9912C>T (p.Leu3304=)
c.7176C>T (p.Leu2392=)
c.6069C>T (p.Leu2023=)
c.10095C>T (p.Leu3365=)
c.5847C>T (p.Leu1949=)
c.9075C>T (p.Leu3025=)
 ClinVar
8g.99853605C>ACA371781027VPS13Bc.10291C>A (p.Pro3431Thr)
n.10361C>A
c.*5973C>A (n.*5973C>A)
c.10216C>A (p.Pro3406Thr)
c.10288C>A (p.Pro3430Thr)
c.10213C>A (p.Pro3405Thr)
c.9913C>A (p.Pro3305Thr)
c.7177C>A (p.Pro2393Thr)
c.6070C>A (p.Pro2024Thr)
c.10096C>A (p.Pro3366Thr)
c.5848C>A (p.Pro1950Thr)
c.9076C>A (p.Pro3026Thr)
8g.99853605C>GCA371781028VPS13Bc.10291C>G (p.Pro3431Ala)
n.10361C>G
c.*5973C>G (n.*5973C>G)
c.10216C>G (p.Pro3406Ala)
c.10288C>G (p.Pro3430Ala)
c.10213C>G (p.Pro3405Ala)
c.9913C>G (p.Pro3305Ala)
c.7177C>G (p.Pro2393Ala)
c.6070C>G (p.Pro2024Ala)
c.10096C>G (p.Pro3366Ala)
c.5848C>G (p.Pro1950Ala)
c.9076C>G (p.Pro3026Ala)
8g.99853605C>TCA371781025VPS13Bc.10291C>T (p.Pro3431Ser)
n.10361C>T
c.*5973C>T (n.*5973C>T)
c.10216C>T (p.Pro3406Ser)
c.10288C>T (p.Pro3430Ser)
c.10213C>T (p.Pro3405Ser)
c.9913C>T (p.Pro3305Ser)
c.7177C>T (p.Pro2393Ser)
c.6070C>T (p.Pro2024Ser)
c.10096C>T (p.Pro3366Ser)
c.5848C>T (p.Pro1950Ser)
c.9076C>T (p.Pro3026Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853609_99853620delCA2688071977VPS13Bc.10295_10306del (p.Gly3432_Pro3435del)
n.10365_10376del
c.*5977_*5988del (n.*5977_*5988del)
c.10220_10231del (p.Gly3407_Pro3410del)
c.10292_10303del (p.Gly3431_Pro3434del)
c.10217_10228del (p.Gly3406_Pro3409del)
c.9917_9928del (p.Gly3306_Pro3309del)
c.7181_7192del (p.Gly2394_Pro2397del)
c.6074_6085del (p.Gly2025_Pro2028del)
c.10100_10111del (p.Gly3367_Pro3370del)
c.5852_5863del (p.Gly1951_Pro1954del)
c.9080_9091del (p.Gly3027_Pro3030del)
 gnomAD v4
8g.99853606C>ACA371781030VPS13Bc.10292C>A (p.Pro3431His)
n.10362C>A
c.*5974C>A (n.*5974C>A)
c.10217C>A (p.Pro3406His)
c.10289C>A (p.Pro3430His)
c.10214C>A (p.Pro3405His)
c.9914C>A (p.Pro3305His)
c.7178C>A (p.Pro2393His)
c.6071C>A (p.Pro2024His)
c.10097C>A (p.Pro3366His)
c.5849C>A (p.Pro1950His)
c.9077C>A (p.Pro3026His)
8g.99853606C>GCA371781031VPS13Bc.10292C>G (p.Pro3431Arg)
n.10362C>G
c.*5974C>G (n.*5974C>G)
c.10217C>G (p.Pro3406Arg)
c.10289C>G (p.Pro3430Arg)
c.10214C>G (p.Pro3405Arg)
c.9914C>G (p.Pro3305Arg)
c.7178C>G (p.Pro2393Arg)
c.6071C>G (p.Pro2024Arg)
c.10097C>G (p.Pro3366Arg)
c.5849C>G (p.Pro1950Arg)
c.9077C>G (p.Pro3026Arg)
8g.99853606C>TCA4824910VPS13Bc.10292C>T (p.Pro3431Leu)
n.10362C>T
c.*5974C>T (n.*5974C>T)
c.10217C>T (p.Pro3406Leu)
c.10289C>T (p.Pro3430Leu)
c.10214C>T (p.Pro3405Leu)
c.9914C>T (p.Pro3305Leu)
c.7178C>T (p.Pro2393Leu)
c.6071C>T (p.Pro2024Leu)
c.10097C>T (p.Pro3366Leu)
c.5849C>T (p.Pro1950Leu)
c.9077C>T (p.Pro3026Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853607delCA2579210870VPS13Bc.10293del (p.Glu3433LysfsTer22)
n.10363del
c.*5975del (n.*5975del)
c.10218del (p.Glu3408LysfsTer22)
c.10290del (p.Glu3432LysfsTer22)
c.10215del (p.Glu3407LysfsTer22)
c.9915del (p.Glu3307LysfsTer22)
c.7179del (p.Glu2395LysfsTer22)
c.6072del (p.Glu2026LysfsTer22)
c.10098del (p.Glu3368LysfsTer22)
c.5850del (p.Glu1952LysfsTer22)
c.9078del (p.Glu3028LysfsTer22)
8g.99853607T>ACA462458123VPS13Bc.10293T>A (p.Pro3431=)
n.10363T>A
c.*5975T>A (n.*5975T>A)
c.10218T>A (p.Pro3406=)
c.10290T>A (p.Pro3430=)
c.10215T>A (p.Pro3405=)
c.9915T>A (p.Pro3305=)
c.7179T>A (p.Pro2393=)
c.6072T>A (p.Pro2024=)
c.10098T>A (p.Pro3366=)
c.5850T>A (p.Pro1950=)
c.9078T>A (p.Pro3026=)
8g.99853607T>CCA462458124VPS13Bc.10293T>C (p.Pro3431=)
n.10363T>C
c.*5975T>C (n.*5975T>C)
c.10218T>C (p.Pro3406=)
c.10290T>C (p.Pro3430=)
c.10215T>C (p.Pro3405=)
c.9915T>C (p.Pro3305=)
c.7179T>C (p.Pro2393=)
c.6072T>C (p.Pro2024=)
c.10098T>C (p.Pro3366=)
c.5850T>C (p.Pro1950=)
c.9078T>C (p.Pro3026=)
8g.99853607T>GCA462458125VPS13Bc.10293T>G (p.Pro3431=)
n.10363T>G
c.*5975T>G (n.*5975T>G)
c.10218T>G (p.Pro3406=)
c.10290T>G (p.Pro3430=)
c.10215T>G (p.Pro3405=)
c.9915T>G (p.Pro3305=)
c.7179T>G (p.Pro2393=)
c.6072T>G (p.Pro2024=)
c.10098T>G (p.Pro3366=)
c.5850T>G (p.Pro1950=)
c.9078T>G (p.Pro3026=)
 gnomAD v4

Number of alleles fetched