Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99861851A>CCA371790504VPS13Bc.*289A>C (n.*289A>C)
n.11265A>C
c.*6877A>C (n.*6877A>C)
c.11120A>C (p.His3707Pro)
c.11195A>C (p.His3732Pro)
c.11192A>C (p.His3731Pro)
c.11117A>C (p.His3706Pro)
c.10817A>C (p.His3606Pro)
c.8081A>C (p.His2694Pro)
c.6974A>C (p.His2325Pro)
c.11000A>C (p.His3667Pro)
c.6752A>C (p.His2251Pro)
c.9980A>C (p.His3327Pro)
8g.99861851A>GCA371790506VPS13Bc.*289A>G (n.*289A>G)
n.11265A>G
c.*6877A>G (n.*6877A>G)
c.11120A>G (p.His3707Arg)
c.11195A>G (p.His3732Arg)
c.11192A>G (p.His3731Arg)
c.11117A>G (p.His3706Arg)
c.10817A>G (p.His3606Arg)
c.8081A>G (p.His2694Arg)
c.6974A>G (p.His2325Arg)
c.11000A>G (p.His3667Arg)
c.6752A>G (p.His2251Arg)
c.9980A>G (p.His3327Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99861851A>TCA371790508VPS13Bc.*289A>T (n.*289A>T)
n.11265A>T
c.*6877A>T (n.*6877A>T)
c.11120A>T (p.His3707Leu)
c.11195A>T (p.His3732Leu)
c.11192A>T (p.His3731Leu)
c.11117A>T (p.His3706Leu)
c.10817A>T (p.His3606Leu)
c.8081A>T (p.His2694Leu)
c.6974A>T (p.His2325Leu)
c.11000A>T (p.His3667Leu)
c.6752A>T (p.His2251Leu)
c.9980A>T (p.His3327Leu)
8g.99861852C>ACA371790509VPS13Bc.*290C>A (n.*290C>A)
n.11266C>A
c.*6878C>A (n.*6878C>A)
c.11121C>A (p.His3707Gln)
c.11196C>A (p.His3732Gln)
c.11193C>A (p.His3731Gln)
c.11118C>A (p.His3706Gln)
c.10818C>A (p.His3606Gln)
c.8082C>A (p.His2694Gln)
c.6975C>A (p.His2325Gln)
c.11001C>A (p.His3667Gln)
c.6753C>A (p.His2251Gln)
c.9981C>A (p.His3327Gln)
 gnomAD v4
8g.99861852C>GCA371790511VPS13Bc.*290C>G (n.*290C>G)
n.11266C>G
c.*6878C>G (n.*6878C>G)
c.11121C>G (p.His3707Gln)
c.11196C>G (p.His3732Gln)
c.11193C>G (p.His3731Gln)
c.11118C>G (p.His3706Gln)
c.10818C>G (p.His3606Gln)
c.8082C>G (p.His2694Gln)
c.6975C>G (p.His2325Gln)
c.11001C>G (p.His3667Gln)
c.6753C>G (p.His2251Gln)
c.9981C>G (p.His3327Gln)
8g.99861852C>TCA462338076VPS13Bc.*290C>T (n.*290C>T)
n.11266C>T
c.*6878C>T (n.*6878C>T)
c.11121C>T (p.His3707=)
c.11196C>T (p.His3732=)
c.11193C>T (p.His3731=)
c.11118C>T (p.His3706=)
c.10818C>T (p.His3606=)
c.8082C>T (p.His2694=)
c.6975C>T (p.His2325=)
c.11001C>T (p.His3667=)
c.6753C>T (p.His2251=)
c.9981C>T (p.His3327=)
 gnomAD v4
8g.99861853T>ACA371790515VPS13Bc.*291T>A (n.*291T>A)
n.11267T>A
c.*6879T>A (n.*6879T>A)
c.11122T>A (p.Tyr3708Asn)
c.11197T>A (p.Tyr3733Asn)
c.11194T>A (p.Tyr3732Asn)
c.11119T>A (p.Tyr3707Asn)
c.10819T>A (p.Tyr3607Asn)
c.8083T>A (p.Tyr2695Asn)
c.6976T>A (p.Tyr2326Asn)
c.11002T>A (p.Tyr3668Asn)
c.6754T>A (p.Tyr2252Asn)
c.9982T>A (p.Tyr3328Asn)
8g.99861853T>CCA371790516VPS13Bc.*291T>C (n.*291T>C)
n.11267T>C
c.*6879T>C (n.*6879T>C)
c.11122T>C (p.Tyr3708His)
c.11197T>C (p.Tyr3733His)
c.11194T>C (p.Tyr3732His)
c.11119T>C (p.Tyr3707His)
c.10819T>C (p.Tyr3607His)
c.8083T>C (p.Tyr2695His)
c.6976T>C (p.Tyr2326His)
c.11002T>C (p.Tyr3668His)
c.6754T>C (p.Tyr2252His)
c.9982T>C (p.Tyr3328His)
 gnomAD v4
8g.99861853T>GCA371790514VPS13Bc.*291T>G (n.*291T>G)
n.11267T>G
c.*6879T>G (n.*6879T>G)
c.11122T>G (p.Tyr3708Asp)
c.11197T>G (p.Tyr3733Asp)
c.11194T>G (p.Tyr3732Asp)
c.11119T>G (p.Tyr3707Asp)
c.10819T>G (p.Tyr3607Asp)
c.8083T>G (p.Tyr2695Asp)
c.6976T>G (p.Tyr2326Asp)
c.11002T>G (p.Tyr3668Asp)
c.6754T>G (p.Tyr2252Asp)
c.9982T>G (p.Tyr3328Asp)
8g.99861854A>CCA371790517VPS13Bc.*292A>C (n.*292A>C)
n.11268A>C
c.*6880A>C (n.*6880A>C)
c.11123A>C (p.Tyr3708Ser)
c.11198A>C (p.Tyr3733Ser)
c.11195A>C (p.Tyr3732Ser)
c.11120A>C (p.Tyr3707Ser)
c.10820A>C (p.Tyr3607Ser)
c.8084A>C (p.Tyr2695Ser)
c.6977A>C (p.Tyr2326Ser)
c.11003A>C (p.Tyr3668Ser)
c.6755A>C (p.Tyr2252Ser)
c.9983A>C (p.Tyr3328Ser)
8g.99861854A>GCA371790520VPS13Bc.*292A>G (n.*292A>G)
n.11268A>G
c.*6880A>G (n.*6880A>G)
c.11123A>G (p.Tyr3708Cys)
c.11198A>G (p.Tyr3733Cys)
c.11195A>G (p.Tyr3732Cys)
c.11120A>G (p.Tyr3707Cys)
c.10820A>G (p.Tyr3607Cys)
c.8084A>G (p.Tyr2695Cys)
c.6977A>G (p.Tyr2326Cys)
c.11003A>G (p.Tyr3668Cys)
c.6755A>G (p.Tyr2252Cys)
c.9983A>G (p.Tyr3328Cys)
 dbSNP
8g.99861854A>TCA371790522VPS13Bc.*292A>T (n.*292A>T)
n.11268A>T
c.*6880A>T (n.*6880A>T)
c.11123A>T (p.Tyr3708Phe)
c.11198A>T (p.Tyr3733Phe)
c.11195A>T (p.Tyr3732Phe)
c.11120A>T (p.Tyr3707Phe)
c.10820A>T (p.Tyr3607Phe)
c.8084A>T (p.Tyr2695Phe)
c.6977A>T (p.Tyr2326Phe)
c.11003A>T (p.Tyr3668Phe)
c.6755A>T (p.Tyr2252Phe)
c.9983A>T (p.Tyr3328Phe)
8g.99861855C>ACA371790524VPS13Bc.*293C>A (n.*293C>A)
n.11269C>A
c.*6881C>A (n.*6881C>A)
c.11124C>A (p.Tyr3708Ter)
c.11199C>A (p.Tyr3733Ter)
c.11196C>A (p.Tyr3732Ter)
c.11121C>A (p.Tyr3707Ter)
c.10821C>A (p.Tyr3607Ter)
c.8085C>A (p.Tyr2695Ter)
c.6978C>A (p.Tyr2326Ter)
c.11004C>A (p.Tyr3668Ter)
c.6756C>A (p.Tyr2252Ter)
c.9984C>A (p.Tyr3328Ter)
 gnomAD v4
8g.99861855C>GCA371790526VPS13Bc.*293C>G (n.*293C>G)
n.11269C>G
c.*6881C>G (n.*6881C>G)
c.11124C>G (p.Tyr3708Ter)
c.11199C>G (p.Tyr3733Ter)
c.11196C>G (p.Tyr3732Ter)
c.11121C>G (p.Tyr3707Ter)
c.10821C>G (p.Tyr3607Ter)
c.8085C>G (p.Tyr2695Ter)
c.6978C>G (p.Tyr2326Ter)
c.11004C>G (p.Tyr3668Ter)
c.6756C>G (p.Tyr2252Ter)
c.9984C>G (p.Tyr3328Ter)
 ClinVar dbSNP
8g.99861855C>TCA462338079VPS13Bc.*293C>T (n.*293C>T)
n.11269C>T
c.*6881C>T (n.*6881C>T)
c.11124C>T (p.Tyr3708=)
c.11199C>T (p.Tyr3733=)
c.11196C>T (p.Tyr3732=)
c.11121C>T (p.Tyr3707=)
c.10821C>T (p.Tyr3607=)
c.8085C>T (p.Tyr2695=)
c.6978C>T (p.Tyr2326=)
c.11004C>T (p.Tyr3668=)
c.6756C>T (p.Tyr2252=)
c.9984C>T (p.Tyr3328=)
 ClinVar dbSNP
8g.99861855_99861856delinsTCA16618724VPS13Bc.*293_*294delinsT (n.*293_*294delinsT)
n.11269_11270delinsT
c.*6881_*6882delinsT (n.*6881_*6882delinsT)
c.11124_11125delinsT (p.Asn3709ThrfsTer?)
c.11199_11200delinsT (p.Asn3734ThrfsTer?)
c.11196_11197delinsT (p.Asn3733ThrfsTer?)
c.11121_11122delinsT (p.Asn3708ThrfsTer?)
c.10821_10822delinsT (p.Asn3608ThrfsTer?)
c.8085_8086delinsT (p.Asn2696ThrfsTer?)
c.6978_6979delinsT (p.Asn2327ThrfsTer?)
c.11004_11005delinsT (p.Asn3669ThrfsTer?)
c.6756_6757delinsT (p.Asn2253ThrfsTer?)
c.9984_9985delinsT (p.Asn3329ThrfsTer?)
 ClinVar dbSNP
8g.99861856A>CCA371790529VPS13Bc.*294A>C (n.*294A>C)
n.11270A>C
c.*6882A>C (n.*6882A>C)
c.11125A>C (p.Asn3709His)
c.11200A>C (p.Asn3734His)
c.11197A>C (p.Asn3733His)
c.11122A>C (p.Asn3708His)
c.10822A>C (p.Asn3608His)
c.8086A>C (p.Asn2696His)
c.6979A>C (p.Asn2327His)
c.11005A>C (p.Asn3669His)
c.6757A>C (p.Asn2253His)
c.9985A>C (p.Asn3329His)
8g.99861856A>GCA371790531VPS13Bc.*294A>G (n.*294A>G)
n.11270A>G
c.*6882A>G (n.*6882A>G)
c.11125A>G (p.Asn3709Asp)
c.11200A>G (p.Asn3734Asp)
c.11197A>G (p.Asn3733Asp)
c.11122A>G (p.Asn3708Asp)
c.10822A>G (p.Asn3608Asp)
c.8086A>G (p.Asn2696Asp)
c.6979A>G (p.Asn2327Asp)
c.11005A>G (p.Asn3669Asp)
c.6757A>G (p.Asn2253Asp)
c.9985A>G (p.Asn3329Asp)
8g.99861856A>TCA371790532VPS13Bc.*294A>T (n.*294A>T)
n.11270A>T
c.*6882A>T (n.*6882A>T)
c.11125A>T (p.Asn3709Tyr)
c.11200A>T (p.Asn3734Tyr)
c.11197A>T (p.Asn3733Tyr)
c.11122A>T (p.Asn3708Tyr)
c.10822A>T (p.Asn3608Tyr)
c.8086A>T (p.Asn2696Tyr)
c.6979A>T (p.Asn2327Tyr)
c.11005A>T (p.Asn3669Tyr)
c.6757A>T (p.Asn2253Tyr)
c.9985A>T (p.Asn3329Tyr)
8g.99861857A>CCA371790534VPS13Bc.*295A>C (n.*295A>C)
n.11271A>C
c.*6883A>C (n.*6883A>C)
c.11126A>C (p.Asn3709Thr)
c.11201A>C (p.Asn3734Thr)
c.11198A>C (p.Asn3733Thr)
c.11123A>C (p.Asn3708Thr)
c.10823A>C (p.Asn3608Thr)
c.8087A>C (p.Asn2696Thr)
c.6980A>C (p.Asn2327Thr)
c.11006A>C (p.Asn3669Thr)
c.6758A>C (p.Asn2253Thr)
c.9986A>C (p.Asn3329Thr)
8g.99861857A>GCA371790536VPS13Bc.*295A>G (n.*295A>G)
n.11271A>G
c.*6883A>G (n.*6883A>G)
c.11126A>G (p.Asn3709Ser)
c.11201A>G (p.Asn3734Ser)
c.11198A>G (p.Asn3733Ser)
c.11123A>G (p.Asn3708Ser)
c.10823A>G (p.Asn3608Ser)
c.8087A>G (p.Asn2696Ser)
c.6980A>G (p.Asn2327Ser)
c.11006A>G (p.Asn3669Ser)
c.6758A>G (p.Asn2253Ser)
c.9986A>G (p.Asn3329Ser)
 gnomAD v4
8g.99861857A>TCA371790538VPS13Bc.*295A>T (n.*295A>T)
n.11271A>T
c.*6883A>T (n.*6883A>T)
c.11126A>T (p.Asn3709Ile)
c.11201A>T (p.Asn3734Ile)
c.11198A>T (p.Asn3733Ile)
c.11123A>T (p.Asn3708Ile)
c.10823A>T (p.Asn3608Ile)
c.8087A>T (p.Asn2696Ile)
c.6980A>T (p.Asn2327Ile)
c.11006A>T (p.Asn3669Ile)
c.6758A>T (p.Asn2253Ile)
c.9986A>T (p.Asn3329Ile)
8g.99861858C>ACA4825149VPS13Bc.*296C>A (n.*296C>A)
n.11272C>A
c.*6884C>A (n.*6884C>A)
c.11127C>A (p.Asn3709Lys)
c.11202C>A (p.Asn3734Lys)
c.11199C>A (p.Asn3733Lys)
c.11124C>A (p.Asn3708Lys)
c.10824C>A (p.Asn3608Lys)
c.8088C>A (p.Asn2696Lys)
c.6981C>A (p.Asn2327Lys)
c.11007C>A (p.Asn3669Lys)
c.6759C>A (p.Asn2253Lys)
c.9987C>A (p.Asn3329Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861858C>GCA371790542VPS13Bc.*296C>G (n.*296C>G)
n.11272C>G
c.*6884C>G (n.*6884C>G)
c.11127C>G (p.Asn3709Lys)
c.11202C>G (p.Asn3734Lys)
c.11199C>G (p.Asn3733Lys)
c.11124C>G (p.Asn3708Lys)
c.10824C>G (p.Asn3608Lys)
c.8088C>G (p.Asn2696Lys)
c.6981C>G (p.Asn2327Lys)
c.11007C>G (p.Asn3669Lys)
c.6759C>G (p.Asn2253Lys)
c.9987C>G (p.Asn3329Lys)
8g.99861858C>TCA462338084VPS13Bc.*296C>T (n.*296C>T)
n.11272C>T
c.*6884C>T (n.*6884C>T)
c.11127C>T (p.Asn3709=)
c.11202C>T (p.Asn3734=)
c.11199C>T (p.Asn3733=)
c.11124C>T (p.Asn3708=)
c.10824C>T (p.Asn3608=)
c.8088C>T (p.Asn2696=)
c.6981C>T (p.Asn2327=)
c.11007C>T (p.Asn3669=)
c.6759C>T (p.Asn2253=)
c.9987C>T (p.Asn3329=)
8g.99861859C>ACA462338089VPS13Bc.*297C>A (n.*297C>A)
n.11273C>A
c.*6885C>A (n.*6885C>A)
c.11128C>A (p.Arg3710=)
c.11203C>A (p.Arg3735=)
c.11200C>A (p.Arg3734=)
c.11125C>A (p.Arg3709=)
c.10825C>A (p.Arg3609=)
c.8089C>A (p.Arg2697=)
c.6982C>A (p.Arg2328=)
c.11008C>A (p.Arg3670=)
c.6760C>A (p.Arg2254=)
c.9988C>A (p.Arg3330=)
 gnomAD v4 COSMIC COSMIC
8g.99861859C>GCA371790545VPS13Bc.*297C>G (n.*297C>G)
n.11273C>G
c.*6885C>G (n.*6885C>G)
c.11128C>G (p.Arg3710Gly)
c.11203C>G (p.Arg3735Gly)
c.11200C>G (p.Arg3734Gly)
c.11125C>G (p.Arg3709Gly)
c.10825C>G (p.Arg3609Gly)
c.8089C>G (p.Arg2697Gly)
c.6982C>G (p.Arg2328Gly)
c.11008C>G (p.Arg3670Gly)
c.6760C>G (p.Arg2254Gly)
c.9988C>G (p.Arg3330Gly)
8g.99861859C>TCA4825150VPS13Bc.*297C>T (n.*297C>T)
n.11273C>T
c.*6885C>T (n.*6885C>T)
c.11128C>T (p.Arg3710Trp)
c.11203C>T (p.Arg3735Trp)
c.11200C>T (p.Arg3734Trp)
c.11125C>T (p.Arg3709Trp)
c.10825C>T (p.Arg3609Trp)
c.8089C>T (p.Arg2697Trp)
c.6982C>T (p.Arg2328Trp)
c.11008C>T (p.Arg3670Trp)
c.6760C>T (p.Arg2254Trp)
c.9988C>T (p.Arg3330Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861860G>ACA182321452VPS13Bc.*298G>A (n.*298G>A)
n.11274G>A
c.*6886G>A (n.*6886G>A)
c.11129G>A (p.Arg3710Gln)
c.11204G>A (p.Arg3735Gln)
c.11201G>A (p.Arg3734Gln)
c.11126G>A (p.Arg3709Gln)
c.10826G>A (p.Arg3609Gln)
c.8090G>A (p.Arg2697Gln)
c.6983G>A (p.Arg2328Gln)
c.11009G>A (p.Arg3670Gln)
c.6761G>A (p.Arg2254Gln)
c.9989G>A (p.Arg3330Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861860G>CCA182321460VPS13Bc.*298G>C (n.*298G>C)
n.11274G>C
c.*6886G>C (n.*6886G>C)
c.11129G>C (p.Arg3710Pro)
c.11204G>C (p.Arg3735Pro)
c.11201G>C (p.Arg3734Pro)
c.11126G>C (p.Arg3709Pro)
c.10826G>C (p.Arg3609Pro)
c.8090G>C (p.Arg2697Pro)
c.6983G>C (p.Arg2328Pro)
c.11009G>C (p.Arg3670Pro)
c.6761G>C (p.Arg2254Pro)
c.9989G>C (p.Arg3330Pro)
 dbSNP
8g.99861860G>TCA371790550VPS13Bc.*298G>T (n.*298G>T)
n.11274G>T
c.*6886G>T (n.*6886G>T)
c.11129G>T (p.Arg3710Leu)
c.11204G>T (p.Arg3735Leu)
c.11201G>T (p.Arg3734Leu)
c.11126G>T (p.Arg3709Leu)
c.10826G>T (p.Arg3609Leu)
c.8090G>T (p.Arg2697Leu)
c.6983G>T (p.Arg2328Leu)
c.11009G>T (p.Arg3670Leu)
c.6761G>T (p.Arg2254Leu)
c.9989G>T (p.Arg3330Leu)
 gnomAD v4
8g.99861862_99861865delCA913128146VPS13Bc.*300_*303del (n.*300_*303del)
n.11276_11279del
c.*6888_*6891del (n.*6888_*6891del)
c.11131_11134del (p.Gln3711ArgfsTer?)
c.11206_11209del (p.Gln3736ArgfsTer?)
c.11203_11206del (p.Gln3735ArgfsTer?)
c.11128_11131del (p.Gln3710ArgfsTer?)
c.10828_10831del (p.Gln3610ArgfsTer?)
c.8092_8095del (p.Gln2698ArgfsTer?)
c.6985_6988del (p.Gln2329ArgfsTer?)
c.11011_11014del (p.Gln3671ArgfsTer?)
c.6763_6766del (p.Gln2255ArgfsTer?)
c.9991_9994del (p.Gln3331ArgfsTer?)
8g.99861861G>ACA462338098VPS13Bc.*299G>A (n.*299G>A)
n.11275G>A
c.*6887G>A (n.*6887G>A)
c.11130G>A (p.Arg3710=)
c.11205G>A (p.Arg3735=)
c.11202G>A (p.Arg3734=)
c.11127G>A (p.Arg3709=)
c.10827G>A (p.Arg3609=)
c.8091G>A (p.Arg2697=)
c.6984G>A (p.Arg2328=)
c.11010G>A (p.Arg3670=)
c.6762G>A (p.Arg2254=)
c.9990G>A (p.Arg3330=)
 gnomAD v4
8g.99861861G>CCA462338101VPS13Bc.*299G>C (n.*299G>C)
n.11275G>C
c.*6887G>C (n.*6887G>C)
c.11130G>C (p.Arg3710=)
c.11205G>C (p.Arg3735=)
c.11202G>C (p.Arg3734=)
c.11127G>C (p.Arg3709=)
c.10827G>C (p.Arg3609=)
c.8091G>C (p.Arg2697=)
c.6984G>C (p.Arg2328=)
c.11010G>C (p.Arg3670=)
c.6762G>C (p.Arg2254=)
c.9990G>C (p.Arg3330=)
8g.99861861G>TCA462338104VPS13Bc.*299G>T (n.*299G>T)
n.11275G>T
c.*6887G>T (n.*6887G>T)
c.11130G>T (p.Arg3710=)
c.11205G>T (p.Arg3735=)
c.11202G>T (p.Arg3734=)
c.11127G>T (p.Arg3709=)
c.10827G>T (p.Arg3609=)
c.8091G>T (p.Arg2697=)
c.6984G>T (p.Arg2328=)
c.11010G>T (p.Arg3670=)
c.6762G>T (p.Arg2254=)
c.9990G>T (p.Arg3330=)
 gnomAD v4
8g.99861862C>ACA371790552VPS13Bc.*300C>A (n.*300C>A)
n.11276C>A
c.*6888C>A (n.*6888C>A)
c.11131C>A (p.Gln3711Lys)
c.11206C>A (p.Gln3736Lys)
c.11203C>A (p.Gln3735Lys)
c.11128C>A (p.Gln3710Lys)
c.10828C>A (p.Gln3610Lys)
c.8092C>A (p.Gln2698Lys)
c.6985C>A (p.Gln2329Lys)
c.11011C>A (p.Gln3671Lys)
c.6763C>A (p.Gln2255Lys)
c.9991C>A (p.Gln3331Lys)
 gnomAD v4
8g.99861862C>GCA371790554VPS13Bc.*300C>G (n.*300C>G)
n.11276C>G
c.*6888C>G (n.*6888C>G)
c.11131C>G (p.Gln3711Glu)
c.11206C>G (p.Gln3736Glu)
c.11203C>G (p.Gln3735Glu)
c.11128C>G (p.Gln3710Glu)
c.10828C>G (p.Gln3610Glu)
c.8092C>G (p.Gln2698Glu)
c.6985C>G (p.Gln2329Glu)
c.11011C>G (p.Gln3671Glu)
c.6763C>G (p.Gln2255Glu)
c.9991C>G (p.Gln3331Glu)
8g.99861862C>TCA371790555VPS13Bc.*300C>T (n.*300C>T)
n.11276C>T
c.*6888C>T (n.*6888C>T)
c.11131C>T (p.Gln3711Ter)
c.11206C>T (p.Gln3736Ter)
c.11203C>T (p.Gln3735Ter)
c.11128C>T (p.Gln3710Ter)
c.10828C>T (p.Gln3610Ter)
c.8092C>T (p.Gln2698Ter)
c.6985C>T (p.Gln2329Ter)
c.11011C>T (p.Gln3671Ter)
c.6763C>T (p.Gln2255Ter)
c.9991C>T (p.Gln3331Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861862_99861863insTGGCA2688071998VPS13Bc.*300_*301insTGG (n.*300_*301insTGG)
n.11276_11277insTGG
c.*6888_*6889insTGG (n.*6888_*6889insTGG)
c.11131_11132insTGG (p.Gln3711delinsLeuGlu)
c.11206_11207insTGG (p.Gln3736delinsLeuGlu)
c.11203_11204insTGG (p.Gln3735delinsLeuGlu)
c.11128_11129insTGG (p.Gln3710delinsLeuGlu)
c.10828_10829insTGG (p.Gln3610delinsLeuGlu)
c.8092_8093insTGG (p.Gln2698delinsLeuGlu)
c.6985_6986insTGG (p.Gln2329delinsLeuGlu)
c.11011_11012insTGG (p.Gln3671delinsLeuGlu)
c.6763_6764insTGG (p.Gln2255delinsLeuGlu)
c.9991_9992insTGG (p.Gln3331delinsLeuGlu)
 gnomAD v4
8g.99861863A>CCA371790557VPS13Bc.*301A>C (n.*301A>C)
n.11277A>C
c.*6889A>C (n.*6889A>C)
c.11132A>C (p.Gln3711Pro)
c.11207A>C (p.Gln3736Pro)
c.11204A>C (p.Gln3735Pro)
c.11129A>C (p.Gln3710Pro)
c.10829A>C (p.Gln3610Pro)
c.8093A>C (p.Gln2698Pro)
c.6986A>C (p.Gln2329Pro)
c.11012A>C (p.Gln3671Pro)
c.6764A>C (p.Gln2255Pro)
c.9992A>C (p.Gln3331Pro)
8g.99861863A>GCA371790560VPS13Bc.*301A>G (n.*301A>G)
n.11277A>G
c.*6889A>G (n.*6889A>G)
c.11132A>G (p.Gln3711Arg)
c.11207A>G (p.Gln3736Arg)
c.11204A>G (p.Gln3735Arg)
c.11129A>G (p.Gln3710Arg)
c.10829A>G (p.Gln3610Arg)
c.8093A>G (p.Gln2698Arg)
c.6986A>G (p.Gln2329Arg)
c.11012A>G (p.Gln3671Arg)
c.6764A>G (p.Gln2255Arg)
c.9992A>G (p.Gln3331Arg)
8g.99861863A>TCA371790561VPS13Bc.*301A>T (n.*301A>T)
n.11277A>T
c.*6889A>T (n.*6889A>T)
c.11132A>T (p.Gln3711Leu)
c.11207A>T (p.Gln3736Leu)
c.11204A>T (p.Gln3735Leu)
c.11129A>T (p.Gln3710Leu)
c.10829A>T (p.Gln3610Leu)
c.8093A>T (p.Gln2698Leu)
c.6986A>T (p.Gln2329Leu)
c.11012A>T (p.Gln3671Leu)
c.6764A>T (p.Gln2255Leu)
c.9992A>T (p.Gln3331Leu)
8g.99861868_99861870delCA4825151VPS13Bc.*306_*308del (n.*306_*308del)
n.11282_11284del
c.*6894_*6896del (n.*6894_*6896del)
c.11137_11139del (p.Glu3713del)
c.11212_11214del (p.Glu3738del)
c.11209_11211del (p.Glu3737del)
c.11134_11136del (p.Glu3712del)
c.10834_10836del (p.Glu3612del)
c.8098_8100del (p.Glu2700del)
c.6991_6993del (p.Glu2331del)
c.11017_11019del (p.Glu3673del)
c.6769_6771del (p.Glu2257del)
c.9997_9999del (p.Glu3333del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861864G>ACA462338139VPS13Bc.*302G>A (n.*302G>A)
n.11278G>A
c.*6890G>A (n.*6890G>A)
c.11133G>A (p.Gln3711=)
c.11208G>A (p.Gln3736=)
c.11205G>A (p.Gln3735=)
c.11130G>A (p.Gln3710=)
c.10830G>A (p.Gln3610=)
c.8094G>A (p.Gln2698=)
c.6987G>A (p.Gln2329=)
c.11013G>A (p.Gln3671=)
c.6765G>A (p.Gln2255=)
c.9993G>A (p.Gln3331=)
 dbSNP gnomAD v4
8g.99861864G>CCA371790566VPS13Bc.*302G>C (n.*302G>C)
n.11278G>C
c.*6890G>C (n.*6890G>C)
c.11133G>C (p.Gln3711His)
c.11208G>C (p.Gln3736His)
c.11205G>C (p.Gln3735His)
c.11130G>C (p.Gln3710His)
c.10830G>C (p.Gln3610His)
c.8094G>C (p.Gln2698His)
c.6987G>C (p.Gln2329His)
c.11013G>C (p.Gln3671His)
c.6765G>C (p.Gln2255His)
c.9993G>C (p.Gln3331His)
8g.99861864G>TCA371790568VPS13Bc.*302G>T (n.*302G>T)
n.11278G>T
c.*6890G>T (n.*6890G>T)
c.11133G>T (p.Gln3711His)
c.11208G>T (p.Gln3736His)
c.11205G>T (p.Gln3735His)
c.11130G>T (p.Gln3710His)
c.10830G>T (p.Gln3610His)
c.8094G>T (p.Gln2698His)
c.6987G>T (p.Gln2329His)
c.11013G>T (p.Gln3671His)
c.6765G>T (p.Gln2255His)
c.9993G>T (p.Gln3331His)
 gnomAD v4
8g.99861865G>ACA371790569VPS13Bc.*303G>A (n.*303G>A)
n.11279G>A
c.*6891G>A (n.*6891G>A)
c.11134G>A (p.Glu3712Lys)
c.11209G>A (p.Glu3737Lys)
c.11206G>A (p.Glu3736Lys)
c.11131G>A (p.Glu3711Lys)
c.10831G>A (p.Glu3611Lys)
c.8095G>A (p.Glu2699Lys)
c.6988G>A (p.Glu2330Lys)
c.11014G>A (p.Glu3672Lys)
c.6766G>A (p.Glu2256Lys)
c.9994G>A (p.Glu3332Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861865G>CCA371790572VPS13Bc.*303G>C (n.*303G>C)
n.11279G>C
c.*6891G>C (n.*6891G>C)
c.11134G>C (p.Glu3712Gln)
c.11209G>C (p.Glu3737Gln)
c.11206G>C (p.Glu3736Gln)
c.11131G>C (p.Glu3711Gln)
c.10831G>C (p.Glu3611Gln)
c.8095G>C (p.Glu2699Gln)
c.6988G>C (p.Glu2330Gln)
c.11014G>C (p.Glu3672Gln)
c.6766G>C (p.Glu2256Gln)
c.9994G>C (p.Glu3332Gln)
8g.99861865G>TCA371790571VPS13Bc.*303G>T (n.*303G>T)
n.11279G>T
c.*6891G>T (n.*6891G>T)
c.11134G>T (p.Glu3712Ter)
c.11209G>T (p.Glu3737Ter)
c.11206G>T (p.Glu3736Ter)
c.11131G>T (p.Glu3711Ter)
c.10831G>T (p.Glu3611Ter)
c.8095G>T (p.Glu2699Ter)
c.6988G>T (p.Glu2330Ter)
c.11014G>T (p.Glu3672Ter)
c.6766G>T (p.Glu2256Ter)
c.9994G>T (p.Glu3332Ter)
8g.99861866A>CCA371790573VPS13Bc.*304A>C (n.*304A>C)
n.11280A>C
c.*6892A>C (n.*6892A>C)
c.11135A>C (p.Glu3712Ala)
c.11210A>C (p.Glu3737Ala)
c.11207A>C (p.Glu3736Ala)
c.11132A>C (p.Glu3711Ala)
c.10832A>C (p.Glu3611Ala)
c.8096A>C (p.Glu2699Ala)
c.6989A>C (p.Glu2330Ala)
c.11015A>C (p.Glu3672Ala)
c.6767A>C (p.Glu2256Ala)
c.9995A>C (p.Glu3332Ala)
8g.99861866A>GCA371790578VPS13Bc.*304A>G (n.*304A>G)
n.11280A>G
c.*6892A>G (n.*6892A>G)
c.11135A>G (p.Glu3712Gly)
c.11210A>G (p.Glu3737Gly)
c.11207A>G (p.Glu3736Gly)
c.11132A>G (p.Glu3711Gly)
c.10832A>G (p.Glu3611Gly)
c.8096A>G (p.Glu2699Gly)
c.6989A>G (p.Glu2330Gly)
c.11015A>G (p.Glu3672Gly)
c.6767A>G (p.Glu2256Gly)
c.9995A>G (p.Glu3332Gly)
8g.99861866A>TCA371790576VPS13Bc.*304A>T (n.*304A>T)
n.11280A>T
c.*6892A>T (n.*6892A>T)
c.11135A>T (p.Glu3712Val)
c.11210A>T (p.Glu3737Val)
c.11207A>T (p.Glu3736Val)
c.11132A>T (p.Glu3711Val)
c.10832A>T (p.Glu3611Val)
c.8096A>T (p.Glu2699Val)
c.6989A>T (p.Glu2330Val)
c.11015A>T (p.Glu3672Val)
c.6767A>T (p.Glu2256Val)
c.9995A>T (p.Glu3332Val)
 gnomAD v4
8g.99861867G>ACA462338154VPS13Bc.*305G>A (n.*305G>A)
n.11281G>A
c.*6893G>A (n.*6893G>A)
c.11136G>A (p.Glu3712=)
c.11211G>A (p.Glu3737=)
c.11208G>A (p.Glu3736=)
c.11133G>A (p.Glu3711=)
c.10833G>A (p.Glu3611=)
c.8097G>A (p.Glu2699=)
c.6990G>A (p.Glu2330=)
c.11016G>A (p.Glu3672=)
c.6768G>A (p.Glu2256=)
c.9996G>A (p.Glu3332=)
 dbSNP
8g.99861867G>CCA371790580VPS13Bc.*305G>C (n.*305G>C)
n.11281G>C
c.*6893G>C (n.*6893G>C)
c.11136G>C (p.Glu3712Asp)
c.11211G>C (p.Glu3737Asp)
c.11208G>C (p.Glu3736Asp)
c.11133G>C (p.Glu3711Asp)
c.10833G>C (p.Glu3611Asp)
c.8097G>C (p.Glu2699Asp)
c.6990G>C (p.Glu2330Asp)
c.11016G>C (p.Glu3672Asp)
c.6768G>C (p.Glu2256Asp)
c.9996G>C (p.Glu3332Asp)
8g.99861867G>TCA371790582VPS13Bc.*305G>T (n.*305G>T)
n.11281G>T
c.*6893G>T (n.*6893G>T)
c.11136G>T (p.Glu3712Asp)
c.11211G>T (p.Glu3737Asp)
c.11208G>T (p.Glu3736Asp)
c.11133G>T (p.Glu3711Asp)
c.10833G>T (p.Glu3611Asp)
c.8097G>T (p.Glu2699Asp)
c.6990G>T (p.Glu2330Asp)
c.11016G>T (p.Glu3672Asp)
c.6768G>T (p.Glu2256Asp)
c.9996G>T (p.Glu3332Asp)
8g.99861868G>ACA371790583VPS13Bc.*306G>A (n.*306G>A)
n.11282G>A
c.*6894G>A (n.*6894G>A)
c.11137G>A (p.Glu3713Lys)
c.11212G>A (p.Glu3738Lys)
c.11209G>A (p.Glu3737Lys)
c.11134G>A (p.Glu3712Lys)
c.10834G>A (p.Glu3612Lys)
c.8098G>A (p.Glu2700Lys)
c.6991G>A (p.Glu2331Lys)
c.11017G>A (p.Glu3673Lys)
c.6769G>A (p.Glu2257Lys)
c.9997G>A (p.Glu3333Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.99861868G>CCA371790587VPS13Bc.*306G>C (n.*306G>C)
n.11282G>C
c.*6894G>C (n.*6894G>C)
c.11137G>C (p.Glu3713Gln)
c.11212G>C (p.Glu3738Gln)
c.11209G>C (p.Glu3737Gln)
c.11134G>C (p.Glu3712Gln)
c.10834G>C (p.Glu3612Gln)
c.8098G>C (p.Glu2700Gln)
c.6991G>C (p.Glu2331Gln)
c.11017G>C (p.Glu3673Gln)
c.6769G>C (p.Glu2257Gln)
c.9997G>C (p.Glu3333Gln)
 gnomAD v4
8g.99861868G>TCA371790585VPS13Bc.*306G>T (n.*306G>T)
n.11282G>T
c.*6894G>T (n.*6894G>T)
c.11137G>T (p.Glu3713Ter)
c.11212G>T (p.Glu3738Ter)
c.11209G>T (p.Glu3737Ter)
c.11134G>T (p.Glu3712Ter)
c.10834G>T (p.Glu3612Ter)
c.8098G>T (p.Glu2700Ter)
c.6991G>T (p.Glu2331Ter)
c.11017G>T (p.Glu3673Ter)
c.6769G>T (p.Glu2257Ter)
c.9997G>T (p.Glu3333Ter)
 gnomAD v4
8g.99861869A>CCA371790589VPS13Bc.*307A>C (n.*307A>C)
n.11283A>C
c.*6895A>C (n.*6895A>C)
c.11138A>C (p.Glu3713Ala)
c.11213A>C (p.Glu3738Ala)
c.11210A>C (p.Glu3737Ala)
c.11135A>C (p.Glu3712Ala)
c.10835A>C (p.Glu3612Ala)
c.8099A>C (p.Glu2700Ala)
c.6992A>C (p.Glu2331Ala)
c.11018A>C (p.Glu3673Ala)
c.6770A>C (p.Glu2257Ala)
c.9998A>C (p.Glu3333Ala)
8g.99861869A>GCA371790591VPS13Bc.*307A>G (n.*307A>G)
n.11283A>G
c.*6895A>G (n.*6895A>G)
c.11138A>G (p.Glu3713Gly)
c.11213A>G (p.Glu3738Gly)
c.11210A>G (p.Glu3737Gly)
c.11135A>G (p.Glu3712Gly)
c.10835A>G (p.Glu3612Gly)
c.8099A>G (p.Glu2700Gly)
c.6992A>G (p.Glu2331Gly)
c.11018A>G (p.Glu3673Gly)
c.6770A>G (p.Glu2257Gly)
c.9998A>G (p.Glu3333Gly)
 dbSNP gnomAD v4
8g.99861869A>TCA371790593VPS13Bc.*307A>T (n.*307A>T)
n.11283A>T
c.*6895A>T (n.*6895A>T)
c.11138A>T (p.Glu3713Val)
c.11213A>T (p.Glu3738Val)
c.11210A>T (p.Glu3737Val)
c.11135A>T (p.Glu3712Val)
c.10835A>T (p.Glu3612Val)
c.8099A>T (p.Glu2700Val)
c.6992A>T (p.Glu2331Val)
c.11018A>T (p.Glu3673Val)
c.6770A>T (p.Glu2257Val)
c.9998A>T (p.Glu3333Val)
8g.99861870G>ACA462338175VPS13Bc.*308G>A (n.*308G>A)
n.11284G>A
c.*6896G>A (n.*6896G>A)
c.11139G>A (p.Glu3713=)
c.11214G>A (p.Glu3738=)
c.11211G>A (p.Glu3737=)
c.11136G>A (p.Glu3712=)
c.10836G>A (p.Glu3612=)
c.8100G>A (p.Glu2700=)
c.6993G>A (p.Glu2331=)
c.11019G>A (p.Glu3673=)
c.6771G>A (p.Glu2257=)
c.9999G>A (p.Glu3333=)
 ClinVar dbSNP gnomAD v4
8g.99861870G>CCA371790595VPS13Bc.*308G>C (n.*308G>C)
n.11284G>C
c.*6896G>C (n.*6896G>C)
c.11139G>C (p.Glu3713Asp)
c.11214G>C (p.Glu3738Asp)
c.11211G>C (p.Glu3737Asp)
c.11136G>C (p.Glu3712Asp)
c.10836G>C (p.Glu3612Asp)
c.8100G>C (p.Glu2700Asp)
c.6993G>C (p.Glu2331Asp)
c.11019G>C (p.Glu3673Asp)
c.6771G>C (p.Glu2257Asp)
c.9999G>C (p.Glu3333Asp)
8g.99861870G>TCA371790597VPS13Bc.*308G>T (n.*308G>T)
n.11284G>T
c.*6896G>T (n.*6896G>T)
c.11139G>T (p.Glu3713Asp)
c.11214G>T (p.Glu3738Asp)
c.11211G>T (p.Glu3737Asp)
c.11136G>T (p.Glu3712Asp)
c.10836G>T (p.Glu3612Asp)
c.8100G>T (p.Glu2700Asp)
c.6993G>T (p.Glu2331Asp)
c.11019G>T (p.Glu3673Asp)
c.6771G>T (p.Glu2257Asp)
c.9999G>T (p.Glu3333Asp)
8g.99861871T>ACA371790600VPS13Bc.*309T>A (n.*309T>A)
n.11285T>A
c.*6897T>A (n.*6897T>A)
c.11140T>A (p.Trp3714Arg)
c.11215T>A (p.Trp3739Arg)
c.11212T>A (p.Trp3738Arg)
c.11137T>A (p.Trp3713Arg)
c.10837T>A (p.Trp3613Arg)
c.8101T>A (p.Trp2701Arg)
c.6994T>A (p.Trp2332Arg)
c.11020T>A (p.Trp3674Arg)
c.6772T>A (p.Trp2258Arg)
c.10000T>A (p.Trp3334Arg)
8g.99861871T>CCA371790602VPS13Bc.*309T>C (n.*309T>C)
n.11285T>C
c.*6897T>C (n.*6897T>C)
c.11140T>C (p.Trp3714Arg)
c.11215T>C (p.Trp3739Arg)
c.11212T>C (p.Trp3738Arg)
c.11137T>C (p.Trp3713Arg)
c.10837T>C (p.Trp3613Arg)
c.8101T>C (p.Trp2701Arg)
c.6994T>C (p.Trp2332Arg)
c.11020T>C (p.Trp3674Arg)
c.6772T>C (p.Trp2258Arg)
c.10000T>C (p.Trp3334Arg)
8g.99861871T>GCA371790604VPS13Bc.*309T>G (n.*309T>G)
n.11285T>G
c.*6897T>G (n.*6897T>G)
c.11140T>G (p.Trp3714Gly)
c.11215T>G (p.Trp3739Gly)
c.11212T>G (p.Trp3738Gly)
c.11137T>G (p.Trp3713Gly)
c.10837T>G (p.Trp3613Gly)
c.8101T>G (p.Trp2701Gly)
c.6994T>G (p.Trp2332Gly)
c.11020T>G (p.Trp3674Gly)
c.6772T>G (p.Trp2258Gly)
c.10000T>G (p.Trp3334Gly)
 gnomAD v3 gnomAD v4
8g.99861872G>ACA264003VPS13Bc.*310G>A (n.*310G>A)
n.11286G>A
c.*6898G>A (n.*6898G>A)
c.11141G>A (p.Trp3714Ter)
c.11216G>A (p.Trp3739Ter)
c.11213G>A (p.Trp3738Ter)
c.11138G>A (p.Trp3713Ter)
c.10838G>A (p.Trp3613Ter)
c.8102G>A (p.Trp2701Ter)
c.6995G>A (p.Trp2332Ter)
c.11021G>A (p.Trp3674Ter)
c.6773G>A (p.Trp2258Ter)
c.10001G>A (p.Trp3334Ter)
 ClinVar dbSNP gnomAD v4
8g.99861872G>CCA371790608VPS13Bc.*310G>C (n.*310G>C)
n.11286G>C
c.*6898G>C (n.*6898G>C)
c.11141G>C (p.Trp3714Ser)
c.11216G>C (p.Trp3739Ser)
c.11213G>C (p.Trp3738Ser)
c.11138G>C (p.Trp3713Ser)
c.10838G>C (p.Trp3613Ser)
c.8102G>C (p.Trp2701Ser)
c.6995G>C (p.Trp2332Ser)
c.11021G>C (p.Trp3674Ser)
c.6773G>C (p.Trp2258Ser)
c.10001G>C (p.Trp3334Ser)
8g.99861872G>TCA371790610VPS13Bc.*310G>T (n.*310G>T)
n.11286G>T
c.*6898G>T (n.*6898G>T)
c.11141G>T (p.Trp3714Leu)
c.11216G>T (p.Trp3739Leu)
c.11213G>T (p.Trp3738Leu)
c.11138G>T (p.Trp3713Leu)
c.10838G>T (p.Trp3613Leu)
c.8102G>T (p.Trp2701Leu)
c.6995G>T (p.Trp2332Leu)
c.11021G>T (p.Trp3674Leu)
c.6773G>T (p.Trp2258Leu)
c.10001G>T (p.Trp3334Leu)
 gnomAD v4
8g.99861873G>ACA371790617VPS13Bc.*311G>A (n.*311G>A)
n.11287G>A
c.*6899G>A (n.*6899G>A)
c.11142G>A (p.Trp3714Ter)
c.11217G>A (p.Trp3739Ter)
c.11214G>A (p.Trp3738Ter)
c.11139G>A (p.Trp3713Ter)
c.10839G>A (p.Trp3613Ter)
c.8103G>A (p.Trp2701Ter)
c.6996G>A (p.Trp2332Ter)
c.11022G>A (p.Trp3674Ter)
c.6774G>A (p.Trp2258Ter)
c.10002G>A (p.Trp3334Ter)
 gnomAD v4
8g.99861873G>CCA371790613VPS13Bc.*311G>C (n.*311G>C)
n.11287G>C
c.*6899G>C (n.*6899G>C)
c.11142G>C (p.Trp3714Cys)
c.11217G>C (p.Trp3739Cys)
c.11214G>C (p.Trp3738Cys)
c.11139G>C (p.Trp3713Cys)
c.10839G>C (p.Trp3613Cys)
c.8103G>C (p.Trp2701Cys)
c.6996G>C (p.Trp2332Cys)
c.11022G>C (p.Trp3674Cys)
c.6774G>C (p.Trp2258Cys)
c.10002G>C (p.Trp3334Cys)
8g.99861873G>TCA371790615VPS13Bc.*311G>T (n.*311G>T)
n.11287G>T
c.*6899G>T (n.*6899G>T)
c.11142G>T (p.Trp3714Cys)
c.11217G>T (p.Trp3739Cys)
c.11214G>T (p.Trp3738Cys)
c.11139G>T (p.Trp3713Cys)
c.10839G>T (p.Trp3613Cys)
c.8103G>T (p.Trp2701Cys)
c.6996G>T (p.Trp2332Cys)
c.11022G>T (p.Trp3674Cys)
c.6774G>T (p.Trp2258Cys)
c.10002G>T (p.Trp3334Cys)
8g.99861874C>ACA462338193VPS13Bc.*312C>A (n.*312C>A)
n.11288C>A
c.*6900C>A (n.*6900C>A)
c.11143C>A (p.Arg3715=)
c.11218C>A (p.Arg3740=)
c.11215C>A (p.Arg3739=)
c.11140C>A (p.Arg3714=)
c.10840C>A (p.Arg3614=)
c.8104C>A (p.Arg2702=)
c.6997C>A (p.Arg2333=)
c.11023C>A (p.Arg3675=)
c.6775C>A (p.Arg2259=)
c.10003C>A (p.Arg3335=)
 dbSNP gnomAD v4
8g.99861874C>GCA371790618VPS13Bc.*312C>G (n.*312C>G)
n.11288C>G
c.*6900C>G (n.*6900C>G)
c.11143C>G (p.Arg3715Gly)
c.11218C>G (p.Arg3740Gly)
c.11215C>G (p.Arg3739Gly)
c.11140C>G (p.Arg3714Gly)
c.10840C>G (p.Arg3614Gly)
c.8104C>G (p.Arg2702Gly)
c.6997C>G (p.Arg2333Gly)
c.11023C>G (p.Arg3675Gly)
c.6775C>G (p.Arg2259Gly)
c.10003C>G (p.Arg3335Gly)
8g.99861874C>TCA182321480VPS13Bc.*312C>T (n.*312C>T)
n.11288C>T
c.*6900C>T (n.*6900C>T)
c.11143C>T (p.Arg3715Trp)
c.11218C>T (p.Arg3740Trp)
c.11215C>T (p.Arg3739Trp)
c.11140C>T (p.Arg3714Trp)
c.10840C>T (p.Arg3614Trp)
c.8104C>T (p.Arg2702Trp)
c.6997C>T (p.Arg2333Trp)
c.11023C>T (p.Arg3675Trp)
c.6775C>T (p.Arg2259Trp)
c.10003C>T (p.Arg3335Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861875G>ACA4825152VPS13Bc.*313G>A (n.*313G>A)
n.11289G>A
c.*6901G>A (n.*6901G>A)
c.11144G>A (p.Arg3715Gln)
c.11219G>A (p.Arg3740Gln)
c.11216G>A (p.Arg3739Gln)
c.11141G>A (p.Arg3714Gln)
c.10841G>A (p.Arg3614Gln)
c.8105G>A (p.Arg2702Gln)
c.6998G>A (p.Arg2333Gln)
c.11024G>A (p.Arg3675Gln)
c.6776G>A (p.Arg2259Gln)
c.10004G>A (p.Arg3335Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861875G>CCA371790619VPS13Bc.*313G>C (n.*313G>C)
n.11289G>C
c.*6901G>C (n.*6901G>C)
c.11144G>C (p.Arg3715Pro)
c.11219G>C (p.Arg3740Pro)
c.11216G>C (p.Arg3739Pro)
c.11141G>C (p.Arg3714Pro)
c.10841G>C (p.Arg3614Pro)
c.8105G>C (p.Arg2702Pro)
c.6998G>C (p.Arg2333Pro)
c.11024G>C (p.Arg3675Pro)
c.6776G>C (p.Arg2259Pro)
c.10004G>C (p.Arg3335Pro)
8g.99861875G>TCA371790620VPS13Bc.*313G>T (n.*313G>T)
n.11289G>T
c.*6901G>T (n.*6901G>T)
c.11144G>T (p.Arg3715Leu)
c.11219G>T (p.Arg3740Leu)
c.11216G>T (p.Arg3739Leu)
c.11141G>T (p.Arg3714Leu)
c.10841G>T (p.Arg3614Leu)
c.8105G>T (p.Arg2702Leu)
c.6998G>T (p.Arg2333Leu)
c.11024G>T (p.Arg3675Leu)
c.6776G>T (p.Arg2259Leu)
c.10004G>T (p.Arg3335Leu)
 dbSNP gnomAD v4
8g.99861876G>ACA462338199VPS13Bc.*314G>A (n.*314G>A)
n.11290G>A
c.*6902G>A (n.*6902G>A)
c.11145G>A (p.Arg3715=)
c.11220G>A (p.Arg3740=)
c.11217G>A (p.Arg3739=)
c.11142G>A (p.Arg3714=)
c.10842G>A (p.Arg3614=)
c.8106G>A (p.Arg2702=)
c.6999G>A (p.Arg2333=)
c.11025G>A (p.Arg3675=)
c.6777G>A (p.Arg2259=)
c.10005G>A (p.Arg3335=)
 gnomAD v4
8g.99861876G>CCA462338202VPS13Bc.*314G>C (n.*314G>C)
n.11290G>C
c.*6902G>C (n.*6902G>C)
c.11145G>C (p.Arg3715=)
c.11220G>C (p.Arg3740=)
c.11217G>C (p.Arg3739=)
c.11142G>C (p.Arg3714=)
c.10842G>C (p.Arg3614=)
c.8106G>C (p.Arg2702=)
c.6999G>C (p.Arg2333=)
c.11025G>C (p.Arg3675=)
c.6777G>C (p.Arg2259=)
c.10005G>C (p.Arg3335=)
8g.99861876G>TCA462338197VPS13Bc.*314G>T (n.*314G>T)
n.11290G>T
c.*6902G>T (n.*6902G>T)
c.11145G>T (p.Arg3715=)
c.11220G>T (p.Arg3740=)
c.11217G>T (p.Arg3739=)
c.11142G>T (p.Arg3714=)
c.10842G>T (p.Arg3614=)
c.8106G>T (p.Arg2702=)
c.6999G>T (p.Arg2333=)
c.11025G>T (p.Arg3675=)
c.6777G>T (p.Arg2259=)
c.10005G>T (p.Arg3335=)
 COSMIC COSMIC
8g.99861877C>ACA462338205VPS13Bc.*315C>A (n.*315C>A)
n.11291C>A
c.*6903C>A (n.*6903C>A)
c.11146C>A (p.Arg3716=)
c.11221C>A (p.Arg3741=)
c.11218C>A (p.Arg3740=)
c.11143C>A (p.Arg3715=)
c.10843C>A (p.Arg3615=)
c.8107C>A (p.Arg2703=)
c.7000C>A (p.Arg2334=)
c.11026C>A (p.Arg3676=)
c.6778C>A (p.Arg2260=)
c.10006C>A (p.Arg3336=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861877C>GCA371790622VPS13Bc.*315C>G (n.*315C>G)
n.11291C>G
c.*6903C>G (n.*6903C>G)
c.11146C>G (p.Arg3716Gly)
c.11221C>G (p.Arg3741Gly)
c.11218C>G (p.Arg3740Gly)
c.11143C>G (p.Arg3715Gly)
c.10843C>G (p.Arg3615Gly)
c.8107C>G (p.Arg2703Gly)
c.7000C>G (p.Arg2334Gly)
c.11026C>G (p.Arg3676Gly)
c.6778C>G (p.Arg2260Gly)
c.10006C>G (p.Arg3336Gly)
 dbSNP gnomAD v4
8g.99861877C>TCA4825153VPS13Bc.*315C>T (n.*315C>T)
n.11291C>T
c.*6903C>T (n.*6903C>T)
c.11146C>T (p.Arg3716Trp)
c.11221C>T (p.Arg3741Trp)
c.11218C>T (p.Arg3740Trp)
c.11143C>T (p.Arg3715Trp)
c.10843C>T (p.Arg3615Trp)
c.8107C>T (p.Arg2703Trp)
c.7000C>T (p.Arg2334Trp)
c.11026C>T (p.Arg3676Trp)
c.6778C>T (p.Arg2260Trp)
c.10006C>T (p.Arg3336Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861878G>ACA4825154VPS13Bc.*316G>A (n.*316G>A)
n.11292G>A
c.*6904G>A (n.*6904G>A)
c.11147G>A (p.Arg3716Gln)
c.11222G>A (p.Arg3741Gln)
c.11219G>A (p.Arg3740Gln)
c.11144G>A (p.Arg3715Gln)
c.10844G>A (p.Arg3615Gln)
c.8108G>A (p.Arg2703Gln)
c.7001G>A (p.Arg2334Gln)
c.11027G>A (p.Arg3676Gln)
c.6779G>A (p.Arg2260Gln)
c.10007G>A (p.Arg3336Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861878G>CCA371790627VPS13Bc.*316G>C (n.*316G>C)
n.11292G>C
c.*6904G>C (n.*6904G>C)
c.11147G>C (p.Arg3716Pro)
c.11222G>C (p.Arg3741Pro)
c.11219G>C (p.Arg3740Pro)
c.11144G>C (p.Arg3715Pro)
c.10844G>C (p.Arg3615Pro)
c.8108G>C (p.Arg2703Pro)
c.7001G>C (p.Arg2334Pro)
c.11027G>C (p.Arg3676Pro)
c.6779G>C (p.Arg2260Pro)
c.10007G>C (p.Arg3336Pro)
8g.99861878G>TCA371790629VPS13Bc.*316G>T (n.*316G>T)
n.11292G>T
c.*6904G>T (n.*6904G>T)
c.11147G>T (p.Arg3716Leu)
c.11222G>T (p.Arg3741Leu)
c.11219G>T (p.Arg3740Leu)
c.11144G>T (p.Arg3715Leu)
c.10844G>T (p.Arg3615Leu)
c.8108G>T (p.Arg2703Leu)
c.7001G>T (p.Arg2334Leu)
c.11027G>T (p.Arg3676Leu)
c.6779G>T (p.Arg2260Leu)
c.10007G>T (p.Arg3336Leu)
8g.99861879G>ACA462338225VPS13Bc.*317G>A (n.*317G>A)
n.11293G>A
c.*6905G>A (n.*6905G>A)
c.11148G>A (p.Arg3716=)
c.11223G>A (p.Arg3741=)
c.11220G>A (p.Arg3740=)
c.11145G>A (p.Arg3715=)
c.10845G>A (p.Arg3615=)
c.8109G>A (p.Arg2703=)
c.7002G>A (p.Arg2334=)
c.11028G>A (p.Arg3676=)
c.6780G>A (p.Arg2260=)
c.10008G>A (p.Arg3336=)
 ClinVar dbSNP gnomAD v4
8g.99861879G>CCA462338227VPS13Bc.*317G>C (n.*317G>C)
n.11293G>C
c.*6905G>C (n.*6905G>C)
c.11148G>C (p.Arg3716=)
c.11223G>C (p.Arg3741=)
c.11220G>C (p.Arg3740=)
c.11145G>C (p.Arg3715=)
c.10845G>C (p.Arg3615=)
c.8109G>C (p.Arg2703=)
c.7002G>C (p.Arg2334=)
c.11028G>C (p.Arg3676=)
c.6780G>C (p.Arg2260=)
c.10008G>C (p.Arg3336=)
8g.99861879G>TCA462338230VPS13Bc.*317G>T (n.*317G>T)
n.11293G>T
c.*6905G>T (n.*6905G>T)
c.11148G>T (p.Arg3716=)
c.11223G>T (p.Arg3741=)
c.11220G>T (p.Arg3740=)
c.11145G>T (p.Arg3715=)
c.10845G>T (p.Arg3615=)
c.8109G>T (p.Arg2703=)
c.7002G>T (p.Arg2334=)
c.11028G>T (p.Arg3676=)
c.6780G>T (p.Arg2260=)
c.10008G>T (p.Arg3336=)
8g.99861880C>ACA371790634VPS13Bc.*318C>A (n.*318C>A)
n.11294C>A
c.*6906C>A (n.*6906C>A)
c.11149C>A (p.Gln3717Lys)
c.11224C>A (p.Gln3742Lys)
c.11221C>A (p.Gln3741Lys)
c.11146C>A (p.Gln3716Lys)
c.10846C>A (p.Gln3616Lys)
c.8110C>A (p.Gln2704Lys)
c.7003C>A (p.Gln2335Lys)
c.11029C>A (p.Gln3677Lys)
c.6781C>A (p.Gln2261Lys)
c.10009C>A (p.Gln3337Lys)
8g.99861880C>GCA371790633VPS13Bc.*318C>G (n.*318C>G)
n.11294C>G
c.*6906C>G (n.*6906C>G)
c.11149C>G (p.Gln3717Glu)
c.11224C>G (p.Gln3742Glu)
c.11221C>G (p.Gln3741Glu)
c.11146C>G (p.Gln3716Glu)
c.10846C>G (p.Gln3616Glu)
c.8110C>G (p.Gln2704Glu)
c.7003C>G (p.Gln2335Glu)
c.11029C>G (p.Gln3677Glu)
c.6781C>G (p.Gln2261Glu)
c.10009C>G (p.Gln3337Glu)
 dbSNP
8g.99861880C>TCA371790632VPS13Bc.*318C>T (n.*318C>T)
n.11294C>T
c.*6906C>T (n.*6906C>T)
c.11149C>T (p.Gln3717Ter)
c.11224C>T (p.Gln3742Ter)
c.11221C>T (p.Gln3741Ter)
c.11146C>T (p.Gln3716Ter)
c.10846C>T (p.Gln3616Ter)
c.8110C>T (p.Gln2704Ter)
c.7003C>T (p.Gln2335Ter)
c.11029C>T (p.Gln3677Ter)
c.6781C>T (p.Gln2261Ter)
c.10009C>T (p.Gln3337Ter)
8g.99861881A>CCA371790635VPS13Bc.*319A>C (n.*319A>C)
n.11295A>C
c.*6907A>C (n.*6907A>C)
c.11150A>C (p.Gln3717Pro)
c.11225A>C (p.Gln3742Pro)
c.11222A>C (p.Gln3741Pro)
c.11147A>C (p.Gln3716Pro)
c.10847A>C (p.Gln3616Pro)
c.8111A>C (p.Gln2704Pro)
c.7004A>C (p.Gln2335Pro)
c.11030A>C (p.Gln3677Pro)
c.6782A>C (p.Gln2261Pro)
c.10010A>C (p.Gln3337Pro)
8g.99861881A>GCA4825155VPS13Bc.*319A>G (n.*319A>G)
n.11295A>G
c.*6907A>G (n.*6907A>G)
c.11150A>G (p.Gln3717Arg)
c.11225A>G (p.Gln3742Arg)
c.11222A>G (p.Gln3741Arg)
c.11147A>G (p.Gln3716Arg)
c.10847A>G (p.Gln3616Arg)
c.8111A>G (p.Gln2704Arg)
c.7004A>G (p.Gln2335Arg)
c.11030A>G (p.Gln3677Arg)
c.6782A>G (p.Gln2261Arg)
c.10010A>G (p.Gln3337Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861881A>TCA371790636VPS13Bc.*319A>T (n.*319A>T)
n.11295A>T
c.*6907A>T (n.*6907A>T)
c.11150A>T (p.Gln3717Leu)
c.11225A>T (p.Gln3742Leu)
c.11222A>T (p.Gln3741Leu)
c.11147A>T (p.Gln3716Leu)
c.10847A>T (p.Gln3616Leu)
c.8111A>T (p.Gln2704Leu)
c.7004A>T (p.Gln2335Leu)
c.11030A>T (p.Gln3677Leu)
c.6782A>T (p.Gln2261Leu)
c.10010A>T (p.Gln3337Leu)
8g.99861882G>ACA462338245VPS13Bc.*320G>A (n.*320G>A)
n.11296G>A
c.*6908G>A (n.*6908G>A)
c.11151G>A (p.Gln3717=)
c.11226G>A (p.Gln3742=)
c.11223G>A (p.Gln3741=)
c.11148G>A (p.Gln3716=)
c.10848G>A (p.Gln3616=)
c.8112G>A (p.Gln2704=)
c.7005G>A (p.Gln2335=)
c.11031G>A (p.Gln3677=)
c.6783G>A (p.Gln2261=)
c.10011G>A (p.Gln3337=)
 gnomAD v4
8g.99861882G>CCA371790637VPS13Bc.*320G>C (n.*320G>C)
n.11296G>C
c.*6908G>C (n.*6908G>C)
c.11151G>C (p.Gln3717His)
c.11226G>C (p.Gln3742His)
c.11223G>C (p.Gln3741His)
c.11148G>C (p.Gln3716His)
c.10848G>C (p.Gln3616His)
c.8112G>C (p.Gln2704His)
c.7005G>C (p.Gln2335His)
c.11031G>C (p.Gln3677His)
c.6783G>C (p.Gln2261His)
c.10011G>C (p.Gln3337His)
8g.99861882G>TCA371790638VPS13Bc.*320G>T (n.*320G>T)
n.11296G>T
c.*6908G>T (n.*6908G>T)
c.11151G>T (p.Gln3717His)
c.11226G>T (p.Gln3742His)
c.11223G>T (p.Gln3741His)
c.11148G>T (p.Gln3716His)
c.10848G>T (p.Gln3616His)
c.8112G>T (p.Gln2704His)
c.7005G>T (p.Gln2335His)
c.11031G>T (p.Gln3677His)
c.6783G>T (p.Gln2261His)
c.10011G>T (p.Gln3337His)
8g.99861883C>ACA371790639VPS13Bc.*321C>A (n.*321C>A)
n.11297C>A
c.*6909C>A (n.*6909C>A)
c.11152C>A (p.Leu3718Ile)
c.11227C>A (p.Leu3743Ile)
c.11224C>A (p.Leu3742Ile)
c.11149C>A (p.Leu3717Ile)
c.10849C>A (p.Leu3617Ile)
c.8113C>A (p.Leu2705Ile)
c.7006C>A (p.Leu2336Ile)
c.11032C>A (p.Leu3678Ile)
c.6784C>A (p.Leu2262Ile)
c.10012C>A (p.Leu3338Ile)
 gnomAD v4
8g.99861883C>GCA371790640VPS13Bc.*321C>G (n.*321C>G)
n.11297C>G
c.*6909C>G (n.*6909C>G)
c.11152C>G (p.Leu3718Val)
c.11227C>G (p.Leu3743Val)
c.11224C>G (p.Leu3742Val)
c.11149C>G (p.Leu3717Val)
c.10849C>G (p.Leu3617Val)
c.8113C>G (p.Leu2705Val)
c.7006C>G (p.Leu2336Val)
c.11032C>G (p.Leu3678Val)
c.6784C>G (p.Leu2262Val)
c.10012C>G (p.Leu3338Val)
8g.99861883C>TCA371790641VPS13Bc.*321C>T (n.*321C>T)
n.11297C>T
c.*6909C>T (n.*6909C>T)
c.11152C>T (p.Leu3718Phe)
c.11227C>T (p.Leu3743Phe)
c.11224C>T (p.Leu3742Phe)
c.11149C>T (p.Leu3717Phe)
c.10849C>T (p.Leu3617Phe)
c.8113C>T (p.Leu2705Phe)
c.7006C>T (p.Leu2336Phe)
c.11032C>T (p.Leu3678Phe)
c.6784C>T (p.Leu2262Phe)
c.10012C>T (p.Leu3338Phe)
8g.99861884T>ACA371790642VPS13Bc.*322T>A (n.*322T>A)
n.11298T>A
c.*6910T>A (n.*6910T>A)
c.11153T>A (p.Leu3718His)
c.11228T>A (p.Leu3743His)
c.11225T>A (p.Leu3742His)
c.11150T>A (p.Leu3717His)
c.10850T>A (p.Leu3617His)
c.8114T>A (p.Leu2705His)
c.7007T>A (p.Leu2336His)
c.11033T>A (p.Leu3678His)
c.6785T>A (p.Leu2262His)
c.10013T>A (p.Leu3338His)
8g.99861884T>CCA371790643VPS13Bc.*322T>C (n.*322T>C)
n.11298T>C
c.*6910T>C (n.*6910T>C)
c.11153T>C (p.Leu3718Pro)
c.11228T>C (p.Leu3743Pro)
c.11225T>C (p.Leu3742Pro)
c.11150T>C (p.Leu3717Pro)
c.10850T>C (p.Leu3617Pro)
c.8114T>C (p.Leu2705Pro)
c.7007T>C (p.Leu2336Pro)
c.11033T>C (p.Leu3678Pro)
c.6785T>C (p.Leu2262Pro)
c.10013T>C (p.Leu3338Pro)
8g.99861884T>GCA371790644VPS13Bc.*322T>G (n.*322T>G)
n.11298T>G
c.*6910T>G (n.*6910T>G)
c.11153T>G (p.Leu3718Arg)
c.11228T>G (p.Leu3743Arg)
c.11225T>G (p.Leu3742Arg)
c.11150T>G (p.Leu3717Arg)
c.10850T>G (p.Leu3617Arg)
c.8114T>G (p.Leu2705Arg)
c.7007T>G (p.Leu2336Arg)
c.11033T>G (p.Leu3678Arg)
c.6785T>G (p.Leu2262Arg)
c.10013T>G (p.Leu3338Arg)
8g.99861885C>ACA462338258VPS13Bc.*323C>A (n.*323C>A)
n.11299C>A
c.*6911C>A (n.*6911C>A)
c.11154C>A (p.Leu3718=)
c.11229C>A (p.Leu3743=)
c.11226C>A (p.Leu3742=)
c.11151C>A (p.Leu3717=)
c.10851C>A (p.Leu3617=)
c.8115C>A (p.Leu2705=)
c.7008C>A (p.Leu2336=)
c.11034C>A (p.Leu3678=)
c.6786C>A (p.Leu2262=)
c.10014C>A (p.Leu3338=)
8g.99861885C>GCA462338261VPS13Bc.*323C>G (n.*323C>G)
n.11299C>G
c.*6911C>G (n.*6911C>G)
c.11154C>G (p.Leu3718=)
c.11229C>G (p.Leu3743=)
c.11226C>G (p.Leu3742=)
c.11151C>G (p.Leu3717=)
c.10851C>G (p.Leu3617=)
c.8115C>G (p.Leu2705=)
c.7008C>G (p.Leu2336=)
c.11034C>G (p.Leu3678=)
c.6786C>G (p.Leu2262=)
c.10014C>G (p.Leu3338=)
8g.99861885C>TCA182321525VPS13Bc.*323C>T (n.*323C>T)
n.11299C>T
c.*6911C>T (n.*6911C>T)
c.11154C>T (p.Leu3718=)
c.11229C>T (p.Leu3743=)
c.11226C>T (p.Leu3742=)
c.11151C>T (p.Leu3717=)
c.10851C>T (p.Leu3617=)
c.8115C>T (p.Leu2705=)
c.7008C>T (p.Leu2336=)
c.11034C>T (p.Leu3678=)
c.6786C>T (p.Leu2262=)
c.10014C>T (p.Leu3338=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861886C>ACA371790647VPS13Bc.*324C>A (n.*324C>A)
n.11300C>A
c.*6912C>A (n.*6912C>A)
c.11155C>A (p.Pro3719Thr)
c.11230C>A (p.Pro3744Thr)
c.11227C>A (p.Pro3743Thr)
c.11152C>A (p.Pro3718Thr)
c.10852C>A (p.Pro3618Thr)
c.8116C>A (p.Pro2706Thr)
c.7009C>A (p.Pro2337Thr)
c.11035C>A (p.Pro3679Thr)
c.6787C>A (p.Pro2263Thr)
c.10015C>A (p.Pro3339Thr)
 gnomAD v4
8g.99861886C>GCA371790646VPS13Bc.*324C>G (n.*324C>G)
n.11300C>G
c.*6912C>G (n.*6912C>G)
c.11155C>G (p.Pro3719Ala)
c.11230C>G (p.Pro3744Ala)
c.11227C>G (p.Pro3743Ala)
c.11152C>G (p.Pro3718Ala)
c.10852C>G (p.Pro3618Ala)
c.8116C>G (p.Pro2706Ala)
c.7009C>G (p.Pro2337Ala)
c.11035C>G (p.Pro3679Ala)
c.6787C>G (p.Pro2263Ala)
c.10015C>G (p.Pro3339Ala)
8g.99861886C>TCA371790645VPS13Bc.*324C>T (n.*324C>T)
n.11300C>T
c.*6912C>T (n.*6912C>T)
c.11155C>T (p.Pro3719Ser)
c.11230C>T (p.Pro3744Ser)
c.11227C>T (p.Pro3743Ser)
c.11152C>T (p.Pro3718Ser)
c.10852C>T (p.Pro3618Ser)
c.8116C>T (p.Pro2706Ser)
c.7009C>T (p.Pro2337Ser)
c.11035C>T (p.Pro3679Ser)
c.6787C>T (p.Pro2263Ser)
c.10015C>T (p.Pro3339Ser)
8g.99861887C>ACA371790648VPS13Bc.*325C>A (n.*325C>A)
n.11301C>A
c.*6913C>A (n.*6913C>A)
c.11156C>A (p.Pro3719His)
c.11231C>A (p.Pro3744His)
c.11228C>A (p.Pro3743His)
c.11153C>A (p.Pro3718His)
c.10853C>A (p.Pro3618His)
c.8117C>A (p.Pro2706His)
c.7010C>A (p.Pro2337His)
c.11036C>A (p.Pro3679His)
c.6788C>A (p.Pro2263His)
c.10016C>A (p.Pro3339His)
 gnomAD v4
8g.99861887C>GCA371790649VPS13Bc.*325C>G (n.*325C>G)
n.11301C>G
c.*6913C>G (n.*6913C>G)
c.11156C>G (p.Pro3719Arg)
c.11231C>G (p.Pro3744Arg)
c.11228C>G (p.Pro3743Arg)
c.11153C>G (p.Pro3718Arg)
c.10853C>G (p.Pro3618Arg)
c.8117C>G (p.Pro2706Arg)
c.7010C>G (p.Pro2337Arg)
c.11036C>G (p.Pro3679Arg)
c.6788C>G (p.Pro2263Arg)
c.10016C>G (p.Pro3339Arg)
 COSMIC
8g.99861887C>TCA371790650VPS13Bc.*325C>T (n.*325C>T)
n.11301C>T
c.*6913C>T (n.*6913C>T)
c.11156C>T (p.Pro3719Leu)
c.11231C>T (p.Pro3744Leu)
c.11228C>T (p.Pro3743Leu)
c.11153C>T (p.Pro3718Leu)
c.10853C>T (p.Pro3618Leu)
c.8117C>T (p.Pro2706Leu)
c.7010C>T (p.Pro2337Leu)
c.11036C>T (p.Pro3679Leu)
c.6788C>T (p.Pro2263Leu)
c.10016C>T (p.Pro3339Leu)
8g.99861888C>ACA462338275VPS13Bc.*326C>A (n.*326C>A)
n.11302C>A
c.*6914C>A (n.*6914C>A)
c.11157C>A (p.Pro3719=)
c.11232C>A (p.Pro3744=)
c.11229C>A (p.Pro3743=)
c.11154C>A (p.Pro3718=)
c.10854C>A (p.Pro3618=)
c.8118C>A (p.Pro2706=)
c.7011C>A (p.Pro2337=)
c.11037C>A (p.Pro3679=)
c.6789C>A (p.Pro2263=)
c.10017C>A (p.Pro3339=)
 gnomAD v4
8g.99861888C>GCA462338277VPS13Bc.*326C>G (n.*326C>G)
n.11302C>G
c.*6914C>G (n.*6914C>G)
c.11157C>G (p.Pro3719=)
c.11232C>G (p.Pro3744=)
c.11229C>G (p.Pro3743=)
c.11154C>G (p.Pro3718=)
c.10854C>G (p.Pro3618=)
c.8118C>G (p.Pro2706=)
c.7011C>G (p.Pro2337=)
c.11037C>G (p.Pro3679=)
c.6789C>G (p.Pro2263=)
c.10017C>G (p.Pro3339=)
8g.99861888C>TCA4825156VPS13Bc.*326C>T (n.*326C>T)
n.11302C>T
c.*6914C>T (n.*6914C>T)
c.11157C>T (p.Pro3719=)
c.11232C>T (p.Pro3744=)
c.11229C>T (p.Pro3743=)
c.11154C>T (p.Pro3718=)
c.10854C>T (p.Pro3618=)
c.8118C>T (p.Pro2706=)
c.7011C>T (p.Pro2337=)
c.11037C>T (p.Pro3679=)
c.6789C>T (p.Pro2263=)
c.10017C>T (p.Pro3339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861889G>ACA4825157VPS13Bc.*327G>A (n.*327G>A)
n.11303G>A
c.*6915G>A (n.*6915G>A)
c.11158G>A (p.Glu3720Lys)
c.11233G>A (p.Glu3745Lys)
c.11230G>A (p.Glu3744Lys)
c.11155G>A (p.Glu3719Lys)
c.10855G>A (p.Glu3619Lys)
c.8119G>A (p.Glu2707Lys)
c.7012G>A (p.Glu2338Lys)
c.11038G>A (p.Glu3680Lys)
c.6790G>A (p.Glu2264Lys)
c.10018G>A (p.Glu3340Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861889G>CCA371790651VPS13Bc.*327G>C (n.*327G>C)
n.11303G>C
c.*6915G>C (n.*6915G>C)
c.11158G>C (p.Glu3720Gln)
c.11233G>C (p.Glu3745Gln)
c.11230G>C (p.Glu3744Gln)
c.11155G>C (p.Glu3719Gln)
c.10855G>C (p.Glu3619Gln)
c.8119G>C (p.Glu2707Gln)
c.7012G>C (p.Glu2338Gln)
c.11038G>C (p.Glu3680Gln)
c.6790G>C (p.Glu2264Gln)
c.10018G>C (p.Glu3340Gln)
 gnomAD v4
8g.99861889G>TCA371790652VPS13Bc.*327G>T (n.*327G>T)
n.11303G>T
c.*6915G>T (n.*6915G>T)
c.11158G>T (p.Glu3720Ter)
c.11233G>T (p.Glu3745Ter)
c.11230G>T (p.Glu3744Ter)
c.11155G>T (p.Glu3719Ter)
c.10855G>T (p.Glu3619Ter)
c.8119G>T (p.Glu2707Ter)
c.7012G>T (p.Glu2338Ter)
c.11038G>T (p.Glu3680Ter)
c.6790G>T (p.Glu2264Ter)
c.10018G>T (p.Glu3340Ter)
 ClinVar gnomAD v4
8g.99861890A>CCA371790653VPS13Bc.*328A>C (n.*328A>C)
n.11304A>C
c.*6916A>C (n.*6916A>C)
c.11159A>C (p.Glu3720Ala)
c.11234A>C (p.Glu3745Ala)
c.11231A>C (p.Glu3744Ala)
c.11156A>C (p.Glu3719Ala)
c.10856A>C (p.Glu3619Ala)
c.8120A>C (p.Glu2707Ala)
c.7013A>C (p.Glu2338Ala)
c.11039A>C (p.Glu3680Ala)
c.6791A>C (p.Glu2264Ala)
c.10019A>C (p.Glu3340Ala)
8g.99861890A>GCA371790654VPS13Bc.*328A>G (n.*328A>G)
n.11304A>G
c.*6916A>G (n.*6916A>G)
c.11159A>G (p.Glu3720Gly)
c.11234A>G (p.Glu3745Gly)
c.11231A>G (p.Glu3744Gly)
c.11156A>G (p.Glu3719Gly)
c.10856A>G (p.Glu3619Gly)
c.8120A>G (p.Glu2707Gly)
c.7013A>G (p.Glu2338Gly)
c.11039A>G (p.Glu3680Gly)
c.6791A>G (p.Glu2264Gly)
c.10019A>G (p.Glu3340Gly)
8g.99861890A>TCA371790655VPS13Bc.*328A>T (n.*328A>T)
n.11304A>T
c.*6916A>T (n.*6916A>T)
c.11159A>T (p.Glu3720Val)
c.11234A>T (p.Glu3745Val)
c.11231A>T (p.Glu3744Val)
c.11156A>T (p.Glu3719Val)
c.10856A>T (p.Glu3619Val)
c.8120A>T (p.Glu2707Val)
c.7013A>T (p.Glu2338Val)
c.11039A>T (p.Glu3680Val)
c.6791A>T (p.Glu2264Val)
c.10019A>T (p.Glu3340Val)
8g.99861891G>ACA462338329VPS13Bc.*329G>A (n.*329G>A)
n.11305G>A
c.*6917G>A (n.*6917G>A)
c.11160G>A (p.Glu3720=)
c.11235G>A (p.Glu3745=)
c.11232G>A (p.Glu3744=)
c.11157G>A (p.Glu3719=)
c.10857G>A (p.Glu3619=)
c.8121G>A (p.Glu2707=)
c.7014G>A (p.Glu2338=)
c.11040G>A (p.Glu3680=)
c.6792G>A (p.Glu2264=)
c.10020G>A (p.Glu3340=)
8g.99861891G>CCA371790656VPS13Bc.*329G>C (n.*329G>C)
n.11305G>C
c.*6917G>C (n.*6917G>C)
c.11160G>C (p.Glu3720Asp)
c.11235G>C (p.Glu3745Asp)
c.11232G>C (p.Glu3744Asp)
c.11157G>C (p.Glu3719Asp)
c.10857G>C (p.Glu3619Asp)
c.8121G>C (p.Glu2707Asp)
c.7014G>C (p.Glu2338Asp)
c.11040G>C (p.Glu3680Asp)
c.6792G>C (p.Glu2264Asp)
c.10020G>C (p.Glu3340Asp)
 dbSNP
8g.99861891G>TCA371790657VPS13Bc.*329G>T (n.*329G>T)
n.11305G>T
c.*6917G>T (n.*6917G>T)
c.11160G>T (p.Glu3720Asp)
c.11235G>T (p.Glu3745Asp)
c.11232G>T (p.Glu3744Asp)
c.11157G>T (p.Glu3719Asp)
c.10857G>T (p.Glu3619Asp)
c.8121G>T (p.Glu2707Asp)
c.7014G>T (p.Glu2338Asp)
c.11040G>T (p.Glu3680Asp)
c.6792G>T (p.Glu2264Asp)
c.10020G>T (p.Glu3340Asp)
8g.99861892A>CCA371790659VPS13Bc.*330A>C (n.*330A>C)
n.11306A>C
c.*6918A>C (n.*6918A>C)
c.11161A>C (p.Ser3721Arg)
c.11236A>C (p.Ser3746Arg)
c.11233A>C (p.Ser3745Arg)
c.11158A>C (p.Ser3720Arg)
c.10858A>C (p.Ser3620Arg)
c.8122A>C (p.Ser2708Arg)
c.7015A>C (p.Ser2339Arg)
c.11041A>C (p.Ser3681Arg)
c.6793A>C (p.Ser2265Arg)
c.10021A>C (p.Ser3341Arg)
8g.99861892A>GCA371790660VPS13Bc.*330A>G (n.*330A>G)
n.11306A>G
c.*6918A>G (n.*6918A>G)
c.11161A>G (p.Ser3721Gly)
c.11236A>G (p.Ser3746Gly)
c.11233A>G (p.Ser3745Gly)
c.11158A>G (p.Ser3720Gly)
c.10858A>G (p.Ser3620Gly)
c.8122A>G (p.Ser2708Gly)
c.7015A>G (p.Ser2339Gly)
c.11041A>G (p.Ser3681Gly)
c.6793A>G (p.Ser2265Gly)
c.10021A>G (p.Ser3341Gly)
8g.99861892A>TCA371790658VPS13Bc.*330A>T (n.*330A>T)
n.11306A>T
c.*6918A>T (n.*6918A>T)
c.11161A>T (p.Ser3721Cys)
c.11236A>T (p.Ser3746Cys)
c.11233A>T (p.Ser3745Cys)
c.11158A>T (p.Ser3720Cys)
c.10858A>T (p.Ser3620Cys)
c.8122A>T (p.Ser2708Cys)
c.7015A>T (p.Ser2339Cys)
c.11041A>T (p.Ser3681Cys)
c.6793A>T (p.Ser2265Cys)
c.10021A>T (p.Ser3341Cys)
8g.99861892dupCA2497231636VPS13Bc.*330dup (n.*330dup)
n.11306dup
c.*6918dup (n.*6918dup)
c.11161dup (p.Ser3721LysfsTer26)
c.11236dup (p.Ser3746LysfsTer26)
c.11233dup (p.Ser3745LysfsTer26)
c.11158dup (p.Ser3720LysfsTer26)
c.10858dup (p.Ser3620LysfsTer26)
c.8122dup (p.Ser2708LysfsTer26)
c.7015dup (p.Ser2339LysfsTer26)
c.11041dup (p.Ser3681LysfsTer26)
c.6793dup (p.Ser2265LysfsTer26)
c.10021dup (p.Ser3341LysfsTer26)
 dbSNP
8g.99861893G>ACA371790661VPS13Bc.*331G>A (n.*331G>A)
n.11307G>A
c.*6919G>A (n.*6919G>A)
c.11162G>A (p.Ser3721Asn)
c.11237G>A (p.Ser3746Asn)
c.11234G>A (p.Ser3745Asn)
c.11159G>A (p.Ser3720Asn)
c.10859G>A (p.Ser3620Asn)
c.8123G>A (p.Ser2708Asn)
c.7016G>A (p.Ser2339Asn)
c.11042G>A (p.Ser3681Asn)
c.6794G>A (p.Ser2265Asn)
c.10022G>A (p.Ser3341Asn)
8g.99861893G>CCA371790662VPS13Bc.*331G>C (n.*331G>C)
n.11307G>C
c.*6919G>C (n.*6919G>C)
c.11162G>C (p.Ser3721Thr)
c.11237G>C (p.Ser3746Thr)
c.11234G>C (p.Ser3745Thr)
c.11159G>C (p.Ser3720Thr)
c.10859G>C (p.Ser3620Thr)
c.8123G>C (p.Ser2708Thr)
c.7016G>C (p.Ser2339Thr)
c.11042G>C (p.Ser3681Thr)
c.6794G>C (p.Ser2265Thr)
c.10022G>C (p.Ser3341Thr)
8g.99861893G>TCA371790663VPS13Bc.*331G>T (n.*331G>T)
n.11307G>T
c.*6919G>T (n.*6919G>T)
c.11162G>T (p.Ser3721Ile)
c.11237G>T (p.Ser3746Ile)
c.11234G>T (p.Ser3745Ile)
c.11159G>T (p.Ser3720Ile)
c.10859G>T (p.Ser3620Ile)
c.8123G>T (p.Ser2708Ile)
c.7016G>T (p.Ser2339Ile)
c.11042G>T (p.Ser3681Ile)
c.6794G>T (p.Ser2265Ile)
c.10022G>T (p.Ser3341Ile)
 gnomAD v4
8g.99861893_99861894delCA16041273VPS13Bc.*331_*332del (n.*331_*332del)
n.11307_11308del
c.*6919_*6920del (n.*6919_*6920del)
c.11162_11163del (p.Ser3721ThrfsTer25)
c.11237_11238del (p.Ser3746ThrfsTer25)
c.11234_11235del (p.Ser3745ThrfsTer25)
c.11159_11160del (p.Ser3720ThrfsTer25)
c.10859_10860del (p.Ser3620ThrfsTer25)
c.8123_8124del (p.Ser2708ThrfsTer25)
c.7016_7017del (p.Ser2339ThrfsTer25)
c.11042_11043del (p.Ser3681ThrfsTer25)
c.6794_6795del (p.Ser2265ThrfsTer25)
c.10022_10023del (p.Ser3341ThrfsTer25)
 ClinVar dbSNP
8g.99861894C>ACA371790664VPS13Bc.*332C>A (n.*332C>A)
n.11308C>A
c.*6920C>A (n.*6920C>A)
c.11163C>A (p.Ser3721Arg)
c.11238C>A (p.Ser3746Arg)
c.11235C>A (p.Ser3745Arg)
c.11160C>A (p.Ser3720Arg)
c.10860C>A (p.Ser3620Arg)
c.8124C>A (p.Ser2708Arg)
c.7017C>A (p.Ser2339Arg)
c.11043C>A (p.Ser3681Arg)
c.6795C>A (p.Ser2265Arg)
c.10023C>A (p.Ser3341Arg)
 gnomAD v4
8g.99861894C>GCA371790665VPS13Bc.*332C>G (n.*332C>G)
n.11308C>G
c.*6920C>G (n.*6920C>G)
c.11163C>G (p.Ser3721Arg)
c.11238C>G (p.Ser3746Arg)
c.11235C>G (p.Ser3745Arg)
c.11160C>G (p.Ser3720Arg)
c.10860C>G (p.Ser3620Arg)
c.8124C>G (p.Ser2708Arg)
c.7017C>G (p.Ser2339Arg)
c.11043C>G (p.Ser3681Arg)
c.6795C>G (p.Ser2265Arg)
c.10023C>G (p.Ser3341Arg)
8g.99861894C>TCA462338350VPS13Bc.*332C>T (n.*332C>T)
n.11308C>T
c.*6920C>T (n.*6920C>T)
c.11163C>T (p.Ser3721=)
c.11238C>T (p.Ser3746=)
c.11235C>T (p.Ser3745=)
c.11160C>T (p.Ser3720=)
c.10860C>T (p.Ser3620=)
c.8124C>T (p.Ser2708=)
c.7017C>T (p.Ser2339=)
c.11043C>T (p.Ser3681=)
c.6795C>T (p.Ser2265=)
c.10023C>T (p.Ser3341=)
 gnomAD v4
8g.99861895C>ACA371790667VPS13Bc.*333C>A (n.*333C>A)
n.11309C>A
c.*6921C>A (n.*6921C>A)
c.11164C>A (p.Leu3722Met)
c.11239C>A (p.Leu3747Met)
c.11236C>A (p.Leu3746Met)
c.11161C>A (p.Leu3721Met)
c.10861C>A (p.Leu3621Met)
c.8125C>A (p.Leu2709Met)
c.7018C>A (p.Leu2340Met)
c.11044C>A (p.Leu3682Met)
c.6796C>A (p.Leu2266Met)
c.10024C>A (p.Leu3342Met)
 gnomAD v4
8g.99861895C>GCA371790666VPS13Bc.*333C>G (n.*333C>G)
n.11309C>G
c.*6921C>G (n.*6921C>G)
c.11164C>G (p.Leu3722Val)
c.11239C>G (p.Leu3747Val)
c.11236C>G (p.Leu3746Val)
c.11161C>G (p.Leu3721Val)
c.10861C>G (p.Leu3621Val)
c.8125C>G (p.Leu2709Val)
c.7018C>G (p.Leu2340Val)
c.11044C>G (p.Leu3682Val)
c.6796C>G (p.Leu2266Val)
c.10024C>G (p.Leu3342Val)
8g.99861895C>TCA462338356VPS13Bc.*333C>T (n.*333C>T)
n.11309C>T
c.*6921C>T (n.*6921C>T)
c.11164C>T (p.Leu3722=)
c.11239C>T (p.Leu3747=)
c.11236C>T (p.Leu3746=)
c.11161C>T (p.Leu3721=)
c.10861C>T (p.Leu3621=)
c.8125C>T (p.Leu2709=)
c.7018C>T (p.Leu2340=)
c.11044C>T (p.Leu3682=)
c.6796C>T (p.Leu2266=)
c.10024C>T (p.Leu3342=)
8g.99861896T>ACA371790668VPS13Bc.*334T>A (n.*334T>A)
n.11310T>A
c.*6922T>A (n.*6922T>A)
c.11165T>A (p.Leu3722Gln)
c.11240T>A (p.Leu3747Gln)
c.11237T>A (p.Leu3746Gln)
c.11162T>A (p.Leu3721Gln)
c.10862T>A (p.Leu3621Gln)
c.8126T>A (p.Leu2709Gln)
c.7019T>A (p.Leu2340Gln)
c.11045T>A (p.Leu3682Gln)
c.6797T>A (p.Leu2266Gln)
c.10025T>A (p.Leu3342Gln)
8g.99861896T>CCA371790669VPS13Bc.*334T>C (n.*334T>C)
n.11310T>C
c.*6922T>C (n.*6922T>C)
c.11165T>C (p.Leu3722Pro)
c.11240T>C (p.Leu3747Pro)
c.11237T>C (p.Leu3746Pro)
c.11162T>C (p.Leu3721Pro)
c.10862T>C (p.Leu3621Pro)
c.8126T>C (p.Leu2709Pro)
c.7019T>C (p.Leu2340Pro)
c.11045T>C (p.Leu3682Pro)
c.6797T>C (p.Leu2266Pro)
c.10025T>C (p.Leu3342Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.99861896T>GCA371790670VPS13Bc.*334T>G (n.*334T>G)
n.11310T>G
c.*6922T>G (n.*6922T>G)
c.11165T>G (p.Leu3722Arg)
c.11240T>G (p.Leu3747Arg)
c.11237T>G (p.Leu3746Arg)
c.11162T>G (p.Leu3721Arg)
c.10862T>G (p.Leu3621Arg)
c.8126T>G (p.Leu2709Arg)
c.7019T>G (p.Leu2340Arg)
c.11045T>G (p.Leu3682Arg)
c.6797T>G (p.Leu2266Arg)
c.10025T>G (p.Leu3342Arg)
8g.99861897G>ACA462338364VPS13Bc.*335G>A (n.*335G>A)
n.11311G>A
c.*6923G>A (n.*6923G>A)
c.11166G>A (p.Leu3722=)
c.11241G>A (p.Leu3747=)
c.11238G>A (p.Leu3746=)
c.11163G>A (p.Leu3721=)
c.10863G>A (p.Leu3621=)
c.8127G>A (p.Leu2709=)
c.7020G>A (p.Leu2340=)
c.11046G>A (p.Leu3682=)
c.6798G>A (p.Leu2266=)
c.10026G>A (p.Leu3342=)
8g.99861897G>CCA462338366VPS13Bc.*335G>C (n.*335G>C)
n.11311G>C
c.*6923G>C (n.*6923G>C)
c.11166G>C (p.Leu3722=)
c.11241G>C (p.Leu3747=)
c.11238G>C (p.Leu3746=)
c.11163G>C (p.Leu3721=)
c.10863G>C (p.Leu3621=)
c.8127G>C (p.Leu2709=)
c.7020G>C (p.Leu2340=)
c.11046G>C (p.Leu3682=)
c.6798G>C (p.Leu2266=)
c.10026G>C (p.Leu3342=)
8g.99861897G>TCA462338368VPS13Bc.*335G>T (n.*335G>T)
n.11311G>T
c.*6923G>T (n.*6923G>T)
c.11166G>T (p.Leu3722=)
c.11241G>T (p.Leu3747=)
c.11238G>T (p.Leu3746=)
c.11163G>T (p.Leu3721=)
c.10863G>T (p.Leu3621=)
c.8127G>T (p.Leu2709=)
c.7020G>T (p.Leu2340=)
c.11046G>T (p.Leu3682=)
c.6798G>T (p.Leu2266=)
c.10026G>T (p.Leu3342=)
 gnomAD v4
8g.99861898G>ACA371790671VPS13Bc.*336G>A (n.*336G>A)
n.11312G>A
c.*6924G>A (n.*6924G>A)
c.11167G>A (p.Gly3723Ser)
c.11242G>A (p.Gly3748Ser)
c.11239G>A (p.Gly3747Ser)
c.11164G>A (p.Gly3722Ser)
c.10864G>A (p.Gly3622Ser)
c.8128G>A (p.Gly2710Ser)
c.7021G>A (p.Gly2341Ser)
c.11047G>A (p.Gly3683Ser)
c.6799G>A (p.Gly2267Ser)
c.10027G>A (p.Gly3343Ser)
 ClinVar COSMIC
8g.99861898G>CCA371790672VPS13Bc.*336G>C (n.*336G>C)
n.11312G>C
c.*6924G>C (n.*6924G>C)
c.11167G>C (p.Gly3723Arg)
c.11242G>C (p.Gly3748Arg)
c.11239G>C (p.Gly3747Arg)
c.11164G>C (p.Gly3722Arg)
c.10864G>C (p.Gly3622Arg)
c.8128G>C (p.Gly2710Arg)
c.7021G>C (p.Gly2341Arg)
c.11047G>C (p.Gly3683Arg)
c.6799G>C (p.Gly2267Arg)
c.10027G>C (p.Gly3343Arg)
 ClinVar dbSNP
8g.99861898G>TCA371790673VPS13Bc.*336G>T (n.*336G>T)
n.11312G>T
c.*6924G>T (n.*6924G>T)
c.11167G>T (p.Gly3723Cys)
c.11242G>T (p.Gly3748Cys)
c.11239G>T (p.Gly3747Cys)
c.11164G>T (p.Gly3722Cys)
c.10864G>T (p.Gly3622Cys)
c.8128G>T (p.Gly2710Cys)
c.7021G>T (p.Gly2341Cys)
c.11047G>T (p.Gly3683Cys)
c.6799G>T (p.Gly2267Cys)
c.10027G>T (p.Gly3343Cys)
8g.99861899G>ACA371790674VPS13Bc.*337G>A (n.*337G>A)
n.11313G>A
c.*6925G>A (n.*6925G>A)
c.11168G>A (p.Gly3723Asp)
c.11243G>A (p.Gly3748Asp)
c.11240G>A (p.Gly3747Asp)
c.11165G>A (p.Gly3722Asp)
c.10865G>A (p.Gly3622Asp)
c.8129G>A (p.Gly2710Asp)
c.7022G>A (p.Gly2341Asp)
c.11048G>A (p.Gly3683Asp)
c.6800G>A (p.Gly2267Asp)
c.10028G>A (p.Gly3343Asp)
 COSMIC COSMIC
8g.99861899G>CCA371790676VPS13Bc.*337G>C (n.*337G>C)
n.11313G>C
c.*6925G>C (n.*6925G>C)
c.11168G>C (p.Gly3723Ala)
c.11243G>C (p.Gly3748Ala)
c.11240G>C (p.Gly3747Ala)
c.11165G>C (p.Gly3722Ala)
c.10865G>C (p.Gly3622Ala)
c.8129G>C (p.Gly2710Ala)
c.7022G>C (p.Gly2341Ala)
c.11048G>C (p.Gly3683Ala)
c.6800G>C (p.Gly2267Ala)
c.10028G>C (p.Gly3343Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.99861899G>TCA371790675VPS13Bc.*337G>T (n.*337G>T)
n.11313G>T
c.*6925G>T (n.*6925G>T)
c.11168G>T (p.Gly3723Val)
c.11243G>T (p.Gly3748Val)
c.11240G>T (p.Gly3747Val)
c.11165G>T (p.Gly3722Val)
c.10865G>T (p.Gly3622Val)
c.8129G>T (p.Gly2710Val)
c.7022G>T (p.Gly2341Val)
c.11048G>T (p.Gly3683Val)
c.6800G>T (p.Gly2267Val)
c.10028G>T (p.Gly3343Val)
 gnomAD v4
8g.99861900C>ACA462338382VPS13Bc.*338C>A (n.*338C>A)
n.11314C>A
c.*6926C>A (n.*6926C>A)
c.11169C>A (p.Gly3723=)
c.11244C>A (p.Gly3748=)
c.11241C>A (p.Gly3747=)
c.11166C>A (p.Gly3722=)
c.10866C>A (p.Gly3622=)
c.8130C>A (p.Gly2710=)
c.7023C>A (p.Gly2341=)
c.11049C>A (p.Gly3683=)
c.6801C>A (p.Gly2267=)
c.10029C>A (p.Gly3343=)
 gnomAD v4
8g.99861900C>GCA462338384VPS13Bc.*338C>G (n.*338C>G)
n.11314C>G
c.*6926C>G (n.*6926C>G)
c.11169C>G (p.Gly3723=)
c.11244C>G (p.Gly3748=)
c.11241C>G (p.Gly3747=)
c.11166C>G (p.Gly3722=)
c.10866C>G (p.Gly3622=)
c.8130C>G (p.Gly2710=)
c.7023C>G (p.Gly2341=)
c.11049C>G (p.Gly3683=)
c.6801C>G (p.Gly2267=)
c.10029C>G (p.Gly3343=)
 ClinVar dbSNP gnomAD v4
8g.99861900C>TCA462338386VPS13Bc.*338C>T (n.*338C>T)
n.11314C>T
c.*6926C>T (n.*6926C>T)
c.11169C>T (p.Gly3723=)
c.11244C>T (p.Gly3748=)
c.11241C>T (p.Gly3747=)
c.11166C>T (p.Gly3722=)
c.10866C>T (p.Gly3622=)
c.8130C>T (p.Gly2710=)
c.7023C>T (p.Gly2341=)
c.11049C>T (p.Gly3683=)
c.6801C>T (p.Gly2267=)
c.10029C>T (p.Gly3343=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99861901G>ACA4825158VPS13Bc.*339G>A (n.*339G>A)
n.11315G>A
c.*6927G>A (n.*6927G>A)
c.11170G>A (p.Glu3724Lys)
c.11245G>A (p.Glu3749Lys)
c.11242G>A (p.Glu3748Lys)
c.11167G>A (p.Glu3723Lys)
c.10867G>A (p.Glu3623Lys)
c.8131G>A (p.Glu2711Lys)
c.7024G>A (p.Glu2342Lys)
c.11050G>A (p.Glu3684Lys)
c.6802G>A (p.Glu2268Lys)
c.10030G>A (p.Glu3344Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861901G>CCA371790677VPS13Bc.*339G>C (n.*339G>C)
n.11315G>C
c.*6927G>C (n.*6927G>C)
c.11170G>C (p.Glu3724Gln)
c.11245G>C (p.Glu3749Gln)
c.11242G>C (p.Glu3748Gln)
c.11167G>C (p.Glu3723Gln)
c.10867G>C (p.Glu3623Gln)
c.8131G>C (p.Glu2711Gln)
c.7024G>C (p.Glu2342Gln)
c.11050G>C (p.Glu3684Gln)
c.6802G>C (p.Glu2268Gln)
c.10030G>C (p.Glu3344Gln)
8g.99861901G>TCA284770VPS13Bc.*339G>T (n.*339G>T)
n.11315G>T
c.*6927G>T (n.*6927G>T)
c.11170G>T (p.Glu3724Ter)
c.11245G>T (p.Glu3749Ter)
c.11242G>T (p.Glu3748Ter)
c.11167G>T (p.Glu3723Ter)
c.10867G>T (p.Glu3623Ter)
c.8131G>T (p.Glu2711Ter)
c.7024G>T (p.Glu2342Ter)
c.11050G>T (p.Glu3684Ter)
c.6802G>T (p.Glu2268Ter)
c.10030G>T (p.Glu3344Ter)
 ClinVar dbSNP gnomAD v4
8g.99861902_99861905dupCA16042625VPS13Bc.*340_*343dup (n.*340_*343dup)
n.11316_11319dup
c.*6928_*6931dup (n.*6928_*6931dup)
c.11171_11174dup (p.Leu3726GlyfsTer22)
c.11246_11249dup (p.Leu3751GlyfsTer22)
c.11243_11246dup (p.Leu3750GlyfsTer22)
c.11168_11171dup (p.Leu3725GlyfsTer22)
c.10868_10871dup (p.Leu3625GlyfsTer22)
c.8132_8135dup (p.Leu2713GlyfsTer22)
c.7025_7028dup (p.Leu2344GlyfsTer22)
c.11051_11054dup (p.Leu3686GlyfsTer22)
c.6803_6806dup (p.Leu2270GlyfsTer22)
c.10031_10034dup (p.Leu3346GlyfsTer22)
 ClinVar dbSNP
8g.99861902A>CCA371790678VPS13Bc.*340A>C (n.*340A>C)
n.11316A>C
c.*6928A>C (n.*6928A>C)
c.11171A>C (p.Glu3724Ala)
c.11246A>C (p.Glu3749Ala)
c.11243A>C (p.Glu3748Ala)
c.11168A>C (p.Glu3723Ala)
c.10868A>C (p.Glu3623Ala)
c.8132A>C (p.Glu2711Ala)
c.7025A>C (p.Glu2342Ala)
c.11051A>C (p.Glu3684Ala)
c.6803A>C (p.Glu2268Ala)
c.10031A>C (p.Glu3344Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.99861902A>GCA371790679VPS13Bc.*340A>G (n.*340A>G)
n.11316A>G
c.*6928A>G (n.*6928A>G)
c.11171A>G (p.Glu3724Gly)
c.11246A>G (p.Glu3749Gly)
c.11243A>G (p.Glu3748Gly)
c.11168A>G (p.Glu3723Gly)
c.10868A>G (p.Glu3623Gly)
c.8132A>G (p.Glu2711Gly)
c.7025A>G (p.Glu2342Gly)
c.11051A>G (p.Glu3684Gly)
c.6803A>G (p.Glu2268Gly)
c.10031A>G (p.Glu3344Gly)
 gnomAD v4
8g.99861902A>TCA371790680VPS13Bc.*340A>T (n.*340A>T)
n.11316A>T
c.*6928A>T (n.*6928A>T)
c.11171A>T (p.Glu3724Val)
c.11246A>T (p.Glu3749Val)
c.11243A>T (p.Glu3748Val)
c.11168A>T (p.Glu3723Val)
c.10868A>T (p.Glu3623Val)
c.8132A>T (p.Glu2711Val)
c.7025A>T (p.Glu2342Val)
c.11051A>T (p.Glu3684Val)
c.6803A>T (p.Glu2268Val)
c.10031A>T (p.Glu3344Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99861903G>ACA462338400VPS13Bc.*341G>A (n.*341G>A)
n.11317G>A
c.*6929G>A (n.*6929G>A)
c.11172G>A (p.Glu3724=)
c.11247G>A (p.Glu3749=)
c.11244G>A (p.Glu3748=)
c.11169G>A (p.Glu3723=)
c.10869G>A (p.Glu3623=)
c.8133G>A (p.Glu2711=)
c.7026G>A (p.Glu2342=)
c.11052G>A (p.Glu3684=)
c.6804G>A (p.Glu2268=)
c.10032G>A (p.Glu3344=)
 dbSNP
8g.99861903G>CCA371790681VPS13Bc.*341G>C (n.*341G>C)
n.11317G>C
c.*6929G>C (n.*6929G>C)
c.11172G>C (p.Glu3724Asp)
c.11247G>C (p.Glu3749Asp)
c.11244G>C (p.Glu3748Asp)
c.11169G>C (p.Glu3723Asp)
c.10869G>C (p.Glu3623Asp)
c.8133G>C (p.Glu2711Asp)
c.7026G>C (p.Glu2342Asp)
c.11052G>C (p.Glu3684Asp)
c.6804G>C (p.Glu2268Asp)
c.10032G>C (p.Glu3344Asp)
8g.99861903G>TCA371790682VPS13Bc.*341G>T (n.*341G>T)
n.11317G>T
c.*6929G>T (n.*6929G>T)
c.11172G>T (p.Glu3724Asp)
c.11247G>T (p.Glu3749Asp)
c.11244G>T (p.Glu3748Asp)
c.11169G>T (p.Glu3723Asp)
c.10869G>T (p.Glu3623Asp)
c.8133G>T (p.Glu2711Asp)
c.7026G>T (p.Glu2342Asp)
c.11052G>T (p.Glu3684Asp)
c.6804G>T (p.Glu2268Asp)
c.10032G>T (p.Glu3344Asp)
 gnomAD v4
8g.99861904G>ACA371790683VPS13Bc.*342G>A (n.*342G>A)
n.11318G>A
c.*6930G>A (n.*6930G>A)
c.11173G>A (p.Gly3725Arg)
c.11248G>A (p.Gly3750Arg)
c.11245G>A (p.Gly3749Arg)
c.11170G>A (p.Gly3724Arg)
c.10870G>A (p.Gly3624Arg)
c.8134G>A (p.Gly2712Arg)
c.7027G>A (p.Gly2343Arg)
c.11053G>A (p.Gly3685Arg)
c.6805G>A (p.Gly2269Arg)
c.10033G>A (p.Gly3345Arg)
8g.99861904G>CCA371790684VPS13Bc.*342G>C (n.*342G>C)
n.11318G>C
c.*6930G>C (n.*6930G>C)
c.11173G>C (p.Gly3725Arg)
c.11248G>C (p.Gly3750Arg)
c.11245G>C (p.Gly3749Arg)
c.11170G>C (p.Gly3724Arg)
c.10870G>C (p.Gly3624Arg)
c.8134G>C (p.Gly2712Arg)
c.7027G>C (p.Gly2343Arg)
c.11053G>C (p.Gly3685Arg)
c.6805G>C (p.Gly2269Arg)
c.10033G>C (p.Gly3345Arg)
8g.99861904G>TCA371790685VPS13Bc.*342G>T (n.*342G>T)
n.11318G>T
c.*6930G>T (n.*6930G>T)
c.11173G>T (p.Gly3725Trp)
c.11248G>T (p.Gly3750Trp)
c.11245G>T (p.Gly3749Trp)
c.11170G>T (p.Gly3724Trp)
c.10870G>T (p.Gly3624Trp)
c.8134G>T (p.Gly2712Trp)
c.7027G>T (p.Gly2343Trp)
c.11053G>T (p.Gly3685Trp)
c.6805G>T (p.Gly2269Trp)
c.10033G>T (p.Gly3345Trp)
8g.99861905G>ACA371790686VPS13Bc.*343G>A (n.*343G>A)
n.11319G>A
c.*6931G>A (n.*6931G>A)
c.11174G>A (p.Gly3725Glu)
c.11249G>A (p.Gly3750Glu)
c.11246G>A (p.Gly3749Glu)
c.11171G>A (p.Gly3724Glu)
c.10871G>A (p.Gly3624Glu)
c.8135G>A (p.Gly2712Glu)
c.7028G>A (p.Gly2343Glu)
c.11054G>A (p.Gly3685Glu)
c.6806G>A (p.Gly2269Glu)
c.10034G>A (p.Gly3345Glu)
8g.99861905G>CCA371790688VPS13Bc.*343G>C (n.*343G>C)
n.11319G>C
c.*6931G>C (n.*6931G>C)
c.11174G>C (p.Gly3725Ala)
c.11249G>C (p.Gly3750Ala)
c.11246G>C (p.Gly3749Ala)
c.11171G>C (p.Gly3724Ala)
c.10871G>C (p.Gly3624Ala)
c.8135G>C (p.Gly2712Ala)
c.7028G>C (p.Gly2343Ala)
c.11054G>C (p.Gly3685Ala)
c.6806G>C (p.Gly2269Ala)
c.10034G>C (p.Gly3345Ala)
8g.99861905G>TCA371790687VPS13Bc.*343G>T (n.*343G>T)
n.11319G>T
c.*6931G>T (n.*6931G>T)
c.11174G>T (p.Gly3725Val)
c.11249G>T (p.Gly3750Val)
c.11246G>T (p.Gly3749Val)
c.11171G>T (p.Gly3724Val)
c.10871G>T (p.Gly3624Val)
c.8135G>T (p.Gly2712Val)
c.7028G>T (p.Gly2343Val)
c.11054G>T (p.Gly3685Val)
c.6806G>T (p.Gly2269Val)
c.10034G>T (p.Gly3345Val)
8g.99861906G>ACA462338419VPS13Bc.*344G>A (n.*344G>A)
n.11320G>A
c.*6932G>A (n.*6932G>A)
c.11175G>A (p.Gly3725=)
c.11250G>A (p.Gly3750=)
c.11247G>A (p.Gly3749=)
c.11172G>A (p.Gly3724=)
c.10872G>A (p.Gly3624=)
c.8136G>A (p.Gly2712=)
c.7029G>A (p.Gly2343=)
c.11055G>A (p.Gly3685=)
c.6807G>A (p.Gly2269=)
c.10035G>A (p.Gly3345=)
 ClinVar dbSNP gnomAD v2
8g.99861906G>CCA462338417VPS13Bc.*344G>C (n.*344G>C)
n.11320G>C
c.*6932G>C (n.*6932G>C)
c.11175G>C (p.Gly3725=)
c.11250G>C (p.Gly3750=)
c.11247G>C (p.Gly3749=)
c.11172G>C (p.Gly3724=)
c.10872G>C (p.Gly3624=)
c.8136G>C (p.Gly2712=)
c.7029G>C (p.Gly2343=)
c.11055G>C (p.Gly3685=)
c.6807G>C (p.Gly2269=)
c.10035G>C (p.Gly3345=)
8g.99861906G>TCA4825159VPS13Bc.*344G>T (n.*344G>T)
n.11320G>T
c.*6932G>T (n.*6932G>T)
c.11175G>T (p.Gly3725=)
c.11250G>T (p.Gly3750=)
c.11247G>T (p.Gly3749=)
c.11172G>T (p.Gly3724=)
c.10872G>T (p.Gly3624=)
c.8136G>T (p.Gly2712=)
c.7029G>T (p.Gly2343=)
c.11055G>T (p.Gly3685=)
c.6807G>T (p.Gly2269=)
c.10035G>T (p.Gly3345=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861907C>ACA371790689VPS13Bc.*345C>A (n.*345C>A)
n.11321C>A
c.*6933C>A (n.*6933C>A)
c.11176C>A (p.Leu3726Ile)
c.11251C>A (p.Leu3751Ile)
c.11248C>A (p.Leu3750Ile)
c.11173C>A (p.Leu3725Ile)
c.10873C>A (p.Leu3625Ile)
c.8137C>A (p.Leu2713Ile)
c.7030C>A (p.Leu2344Ile)
c.11056C>A (p.Leu3686Ile)
c.6808C>A (p.Leu2270Ile)
c.10036C>A (p.Leu3346Ile)
 dbSNP gnomAD v2
8g.99861907C>GCA371790690VPS13Bc.*345C>G (n.*345C>G)
n.11321C>G
c.*6933C>G (n.*6933C>G)
c.11176C>G (p.Leu3726Val)
c.11251C>G (p.Leu3751Val)
c.11248C>G (p.Leu3750Val)
c.11173C>G (p.Leu3725Val)
c.10873C>G (p.Leu3625Val)
c.8137C>G (p.Leu2713Val)
c.7030C>G (p.Leu2344Val)
c.11056C>G (p.Leu3686Val)
c.6808C>G (p.Leu2270Val)
c.10036C>G (p.Leu3346Val)
8g.99861907C>TCA4825160VPS13Bc.*345C>T (n.*345C>T)
n.11321C>T
c.*6933C>T (n.*6933C>T)
c.11176C>T (p.Leu3726Phe)
c.11251C>T (p.Leu3751Phe)
c.11248C>T (p.Leu3750Phe)
c.11173C>T (p.Leu3725Phe)
c.10873C>T (p.Leu3625Phe)
c.8137C>T (p.Leu2713Phe)
c.7030C>T (p.Leu2344Phe)
c.11056C>T (p.Leu3686Phe)
c.6808C>T (p.Leu2270Phe)
c.10036C>T (p.Leu3346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861908T>ACA371790691VPS13Bc.*346T>A (n.*346T>A)
n.11322T>A
c.*6934T>A (n.*6934T>A)
c.11177T>A (p.Leu3726His)
c.11252T>A (p.Leu3751His)
c.11249T>A (p.Leu3750His)
c.11174T>A (p.Leu3725His)
c.10874T>A (p.Leu3625His)
c.8138T>A (p.Leu2713His)
c.7031T>A (p.Leu2344His)
c.11057T>A (p.Leu3686His)
c.6809T>A (p.Leu2270His)
c.10037T>A (p.Leu3346His)
8g.99861908T>CCA371790692VPS13Bc.*346T>C (n.*346T>C)
n.11322T>C
c.*6934T>C (n.*6934T>C)
c.11177T>C (p.Leu3726Pro)
c.11252T>C (p.Leu3751Pro)
c.11249T>C (p.Leu3750Pro)
c.11174T>C (p.Leu3725Pro)
c.10874T>C (p.Leu3625Pro)
c.8138T>C (p.Leu2713Pro)
c.7031T>C (p.Leu2344Pro)
c.11057T>C (p.Leu3686Pro)
c.6809T>C (p.Leu2270Pro)
c.10037T>C (p.Leu3346Pro)
8g.99861908T>GCA371790693VPS13Bc.*346T>G (n.*346T>G)
n.11322T>G
c.*6934T>G (n.*6934T>G)
c.11177T>G (p.Leu3726Arg)
c.11252T>G (p.Leu3751Arg)
c.11249T>G (p.Leu3750Arg)
c.11174T>G (p.Leu3725Arg)
c.10874T>G (p.Leu3625Arg)
c.8138T>G (p.Leu2713Arg)
c.7031T>G (p.Leu2344Arg)
c.11057T>G (p.Leu3686Arg)
c.6809T>G (p.Leu2270Arg)
c.10037T>G (p.Leu3346Arg)
8g.99861909T>ACA462338434VPS13Bc.*347T>A (n.*347T>A)
n.11323T>A
c.*6935T>A (n.*6935T>A)
c.11178T>A (p.Leu3726=)
c.11253T>A (p.Leu3751=)
c.11250T>A (p.Leu3750=)
c.11175T>A (p.Leu3725=)
c.10875T>A (p.Leu3625=)
c.8139T>A (p.Leu2713=)
c.7032T>A (p.Leu2344=)
c.11058T>A (p.Leu3686=)
c.6810T>A (p.Leu2270=)
c.10038T>A (p.Leu3346=)
8g.99861909T>CCA462338436VPS13Bc.*347T>C (n.*347T>C)
n.11323T>C
c.*6935T>C (n.*6935T>C)
c.11178T>C (p.Leu3726=)
c.11253T>C (p.Leu3751=)
c.11250T>C (p.Leu3750=)
c.11175T>C (p.Leu3725=)
c.10875T>C (p.Leu3625=)
c.8139T>C (p.Leu2713=)
c.7032T>C (p.Leu2344=)
c.11058T>C (p.Leu3686=)
c.6810T>C (p.Leu2270=)
c.10038T>C (p.Leu3346=)
8g.99861909T>GCA462338438VPS13Bc.*347T>G (n.*347T>G)
n.11323T>G
c.*6935T>G (n.*6935T>G)
c.11178T>G (p.Leu3726=)
c.11253T>G (p.Leu3751=)
c.11250T>G (p.Leu3750=)
c.11175T>G (p.Leu3725=)
c.10875T>G (p.Leu3625=)
c.8139T>G (p.Leu2713=)
c.7032T>G (p.Leu2344=)
c.11058T>G (p.Leu3686=)
c.6810T>G (p.Leu2270=)
c.10038T>G (p.Leu3346=)
8g.99861910C>ACA462338441VPS13Bc.*348C>A (n.*348C>A)
n.11324C>A
c.*6936C>A (n.*6936C>A)
c.11179C>A (p.Arg3727=)
c.11254C>A (p.Arg3752=)
c.11251C>A (p.Arg3751=)
c.11176C>A (p.Arg3726=)
c.10876C>A (p.Arg3626=)
c.8140C>A (p.Arg2714=)
c.7033C>A (p.Arg2345=)
c.11059C>A (p.Arg3687=)
c.6811C>A (p.Arg2271=)
c.10039C>A (p.Arg3347=)
 gnomAD v4
8g.99861910C>GCA371790694VPS13Bc.*348C>G (n.*348C>G)
n.11324C>G
c.*6936C>G (n.*6936C>G)
c.11179C>G (p.Arg3727Gly)
c.11254C>G (p.Arg3752Gly)
c.11251C>G (p.Arg3751Gly)
c.11176C>G (p.Arg3726Gly)
c.10876C>G (p.Arg3626Gly)
c.8140C>G (p.Arg2714Gly)
c.7033C>G (p.Arg2345Gly)
c.11059C>G (p.Arg3687Gly)
c.6811C>G (p.Arg2271Gly)
c.10039C>G (p.Arg3347Gly)
8g.99861910C>TCA371790695VPS13Bc.*348C>T (n.*348C>T)
n.11324C>T
c.*6936C>T (n.*6936C>T)
c.11179C>T (p.Arg3727Ter)
c.11254C>T (p.Arg3752Ter)
c.11251C>T (p.Arg3751Ter)
c.11176C>T (p.Arg3726Ter)
c.10876C>T (p.Arg3626Ter)
c.8140C>T (p.Arg2714Ter)
c.7033C>T (p.Arg2345Ter)
c.11059C>T (p.Arg3687Ter)
c.6811C>T (p.Arg2271Ter)
c.10039C>T (p.Arg3347Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861911G>ACA182321626VPS13Bc.*349G>A (n.*349G>A)
n.11325G>A
c.*6937G>A (n.*6937G>A)
c.11180G>A (p.Arg3727Gln)
c.11255G>A (p.Arg3752Gln)
c.11252G>A (p.Arg3751Gln)
c.11177G>A (p.Arg3726Gln)
c.10877G>A (p.Arg3626Gln)
c.8141G>A (p.Arg2714Gln)
c.7034G>A (p.Arg2345Gln)
c.11060G>A (p.Arg3687Gln)
c.6812G>A (p.Arg2271Gln)
c.10040G>A (p.Arg3347Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861911G>CCA371790696VPS13Bc.*349G>C (n.*349G>C)
n.11325G>C
c.*6937G>C (n.*6937G>C)
c.11180G>C (p.Arg3727Pro)
c.11255G>C (p.Arg3752Pro)
c.11252G>C (p.Arg3751Pro)
c.11177G>C (p.Arg3726Pro)
c.10877G>C (p.Arg3626Pro)
c.8141G>C (p.Arg2714Pro)
c.7034G>C (p.Arg2345Pro)
c.11060G>C (p.Arg3687Pro)
c.6812G>C (p.Arg2271Pro)
c.10040G>C (p.Arg3347Pro)
8g.99861911G>TCA371790697VPS13Bc.*349G>T (n.*349G>T)
n.11325G>T
c.*6937G>T (n.*6937G>T)
c.11180G>T (p.Arg3727Leu)
c.11255G>T (p.Arg3752Leu)
c.11252G>T (p.Arg3751Leu)
c.11177G>T (p.Arg3726Leu)
c.10877G>T (p.Arg3626Leu)
c.8141G>T (p.Arg2714Leu)
c.7034G>T (p.Arg2345Leu)
c.11060G>T (p.Arg3687Leu)
c.6812G>T (p.Arg2271Leu)
c.10040G>T (p.Arg3347Leu)
 gnomAD v4
8g.99861912_99861916delCA2688072163VPS13Bc.*350_*354del (n.*350_*354del)
n.11326_11330del
c.*6938_*6942del (n.*6938_*6942del)
c.11181_11185del (p.Gln3728ProfsTer17)
c.11256_11260del (p.Gln3753ProfsTer17)
c.11253_11257del (p.Gln3752ProfsTer17)
c.11178_11182del (p.Gln3727ProfsTer17)
c.10878_10882del (p.Gln3627ProfsTer17)
c.8142_8146del (p.Gln2715ProfsTer17)
c.7035_7039del (p.Gln2346ProfsTer17)
c.11061_11065del (p.Gln3688ProfsTer17)
c.6813_6817del (p.Gln2272ProfsTer17)
c.10041_10045del (p.Gln3348ProfsTer17)
 gnomAD v4
8g.99861912A=CA2580832419VPS13Bc.*350A= (n.*350A=)
n.11326A=
c.*6938A= (n.*6938A=)
c.11181A= (p.Arg3727=)
c.11256A= (p.Arg3752=)
c.11253A= (p.Arg3751=)
c.11178A= (p.Arg3726=)
c.10878A= (p.Arg3626=)
c.8142A= (p.Arg2714=)
c.7035A= (p.Arg2345=)
c.11061A= (p.Arg3687=)
c.6813A= (p.Arg2271=)
c.10041A= (p.Arg3347=)
8g.99861912A>CCA462338455VPS13Bc.*350A>C (n.*350A>C)
n.11326A>C
c.*6938A>C (n.*6938A>C)
c.11181A>C (p.Arg3727=)
c.11256A>C (p.Arg3752=)
c.11253A>C (p.Arg3751=)
c.11178A>C (p.Arg3726=)
c.10878A>C (p.Arg3626=)
c.8142A>C (p.Arg2714=)
c.7035A>C (p.Arg2345=)
c.11061A>C (p.Arg3687=)
c.6813A>C (p.Arg2271=)
c.10041A>C (p.Arg3347=)
8g.99861912A>GCA4825161VPS13Bc.*350A>G (n.*350A>G)
n.11326A>G
c.*6938A>G (n.*6938A>G)
c.11181A>G (p.Arg3727=)
c.11256A>G (p.Arg3752=)
c.11253A>G (p.Arg3751=)
c.11178A>G (p.Arg3726=)
c.10878A>G (p.Arg3626=)
c.8142A>G (p.Arg2714=)
c.7035A>G (p.Arg2345=)
c.11061A>G (p.Arg3687=)
c.6813A>G (p.Arg2271=)
c.10041A>G (p.Arg3347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861912A>TCA462338458VPS13Bc.*350A>T (n.*350A>T)
n.11326A>T
c.*6938A>T (n.*6938A>T)
c.11181A>T (p.Arg3727=)
c.11256A>T (p.Arg3752=)
c.11253A>T (p.Arg3751=)
c.11178A>T (p.Arg3726=)
c.10878A>T (p.Arg3626=)
c.8142A>T (p.Arg2714=)
c.7035A>T (p.Arg2345=)
c.11061A>T (p.Arg3687=)
c.6813A>T (p.Arg2271=)
c.10041A>T (p.Arg3347=)
8g.99861912_99861956delCA857605273VPS13Bc.*350_*384+10del
n.11326_11360+10del
c.*6938_*6972+10del
c.11181_11215+10del
c.11256_11290+10del
c.11253_11287+10del
c.11178_11212+10del
c.10878_10912+10del
c.8142_8176+10del
c.7035_7069+10del
c.11061_11095+10del
c.6813_6847+10del
c.10041_10075+10del
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99861913C>ACA371790698VPS13Bc.*351C>A (n.*351C>A)
n.11327C>A
c.*6939C>A (n.*6939C>A)
c.11182C>A (p.Gln3728Lys)
c.11257C>A (p.Gln3753Lys)
c.11254C>A (p.Gln3752Lys)
c.11179C>A (p.Gln3727Lys)
c.10879C>A (p.Gln3627Lys)
c.8143C>A (p.Gln2715Lys)
c.7036C>A (p.Gln2346Lys)
c.11062C>A (p.Gln3688Lys)
c.6814C>A (p.Gln2272Lys)
c.10042C>A (p.Gln3348Lys)
8g.99861913C>GCA371790700VPS13Bc.*351C>G (n.*351C>G)
n.11327C>G
c.*6939C>G (n.*6939C>G)
c.11182C>G (p.Gln3728Glu)
c.11257C>G (p.Gln3753Glu)
c.11254C>G (p.Gln3752Glu)
c.11179C>G (p.Gln3727Glu)
c.10879C>G (p.Gln3627Glu)
c.8143C>G (p.Gln2715Glu)
c.7036C>G (p.Gln2346Glu)
c.11062C>G (p.Gln3688Glu)
c.6814C>G (p.Gln2272Glu)
c.10042C>G (p.Gln3348Glu)
8g.99861913C>TCA371790699VPS13Bc.*351C>T (n.*351C>T)
n.11327C>T
c.*6939C>T (n.*6939C>T)
c.11182C>T (p.Gln3728Ter)
c.11257C>T (p.Gln3753Ter)
c.11254C>T (p.Gln3752Ter)
c.11179C>T (p.Gln3727Ter)
c.10879C>T (p.Gln3627Ter)
c.8143C>T (p.Gln2715Ter)
c.7036C>T (p.Gln2346Ter)
c.11062C>T (p.Gln3688Ter)
c.6814C>T (p.Gln2272Ter)
c.10042C>T (p.Gln3348Ter)
8g.99861914A>CCA371790701VPS13Bc.*352A>C (n.*352A>C)
n.11328A>C
c.*6940A>C (n.*6940A>C)
c.11183A>C (p.Gln3728Pro)
c.11258A>C (p.Gln3753Pro)
c.11255A>C (p.Gln3752Pro)
c.11180A>C (p.Gln3727Pro)
c.10880A>C (p.Gln3627Pro)
c.8144A>C (p.Gln2715Pro)
c.7037A>C (p.Gln2346Pro)
c.11063A>C (p.Gln3688Pro)
c.6815A>C (p.Gln2272Pro)
c.10043A>C (p.Gln3348Pro)
8g.99861914A>GCA371790702VPS13Bc.*352A>G (n.*352A>G)
n.11328A>G
c.*6940A>G (n.*6940A>G)
c.11183A>G (p.Gln3728Arg)
c.11258A>G (p.Gln3753Arg)
c.11255A>G (p.Gln3752Arg)
c.11180A>G (p.Gln3727Arg)
c.10880A>G (p.Gln3627Arg)
c.8144A>G (p.Gln2715Arg)
c.7037A>G (p.Gln2346Arg)
c.11063A>G (p.Gln3688Arg)
c.6815A>G (p.Gln2272Arg)
c.10043A>G (p.Gln3348Arg)
8g.99861914A>TCA371790703VPS13Bc.*352A>T (n.*352A>T)
n.11328A>T
c.*6940A>T (n.*6940A>T)
c.11183A>T (p.Gln3728Leu)
c.11258A>T (p.Gln3753Leu)
c.11255A>T (p.Gln3752Leu)
c.11180A>T (p.Gln3727Leu)
c.10880A>T (p.Gln3627Leu)
c.8144A>T (p.Gln2715Leu)
c.7037A>T (p.Gln2346Leu)
c.11063A>T (p.Gln3688Leu)
c.6815A>T (p.Gln2272Leu)
c.10043A>T (p.Gln3348Leu)
8g.99861915G>ACA462338472VPS13Bc.*353G>A (n.*353G>A)
n.11329G>A
c.*6941G>A (n.*6941G>A)
c.11184G>A (p.Gln3728=)
c.11259G>A (p.Gln3753=)
c.11256G>A (p.Gln3752=)
c.11181G>A (p.Gln3727=)
c.10881G>A (p.Gln3627=)
c.8145G>A (p.Gln2715=)
c.7038G>A (p.Gln2346=)
c.11064G>A (p.Gln3688=)
c.6816G>A (p.Gln2272=)
c.10044G>A (p.Gln3348=)
 dbSNP
8g.99861915G>CCA371790704VPS13Bc.*353G>C (n.*353G>C)
n.11329G>C
c.*6941G>C (n.*6941G>C)
c.11184G>C (p.Gln3728His)
c.11259G>C (p.Gln3753His)
c.11256G>C (p.Gln3752His)
c.11181G>C (p.Gln3727His)
c.10881G>C (p.Gln3627His)
c.8145G>C (p.Gln2715His)
c.7038G>C (p.Gln2346His)
c.11064G>C (p.Gln3688His)
c.6816G>C (p.Gln2272His)
c.10044G>C (p.Gln3348His)
8g.99861915G>TCA371790705VPS13Bc.*353G>T (n.*353G>T)
n.11329G>T
c.*6941G>T (n.*6941G>T)
c.11184G>T (p.Gln3728His)
c.11259G>T (p.Gln3753His)
c.11256G>T (p.Gln3752His)
c.11181G>T (p.Gln3727His)
c.10881G>T (p.Gln3627His)
c.8145G>T (p.Gln2715His)
c.7038G>T (p.Gln2346His)
c.11064G>T (p.Gln3688His)
c.6816G>T (p.Gln2272His)
c.10044G>T (p.Gln3348His)
 gnomAD v4 COSMIC COSMIC
8g.99861916G>ACA371790706VPS13Bc.*354G>A (n.*354G>A)
n.11330G>A
c.*6942G>A (n.*6942G>A)
c.11185G>A (p.Gly3729Ser)
c.11260G>A (p.Gly3754Ser)
c.11257G>A (p.Gly3753Ser)
c.11182G>A (p.Gly3728Ser)
c.10882G>A (p.Gly3628Ser)
c.8146G>A (p.Gly2716Ser)
c.7039G>A (p.Gly2347Ser)
c.11065G>A (p.Gly3689Ser)
c.6817G>A (p.Gly2273Ser)
c.10045G>A (p.Gly3349Ser)
8g.99861916G>CCA371790707VPS13Bc.*354G>C (n.*354G>C)
n.11330G>C
c.*6942G>C (n.*6942G>C)
c.11185G>C (p.Gly3729Arg)
c.11260G>C (p.Gly3754Arg)
c.11257G>C (p.Gly3753Arg)
c.11182G>C (p.Gly3728Arg)
c.10882G>C (p.Gly3628Arg)
c.8146G>C (p.Gly2716Arg)
c.7039G>C (p.Gly2347Arg)
c.11065G>C (p.Gly3689Arg)
c.6817G>C (p.Gly2273Arg)
c.10045G>C (p.Gly3349Arg)
 COSMIC COSMIC
8g.99861916G>TCA371790708VPS13Bc.*354G>T (n.*354G>T)
n.11330G>T
c.*6942G>T (n.*6942G>T)
c.11185G>T (p.Gly3729Cys)
c.11260G>T (p.Gly3754Cys)
c.11257G>T (p.Gly3753Cys)
c.11182G>T (p.Gly3728Cys)
c.10882G>T (p.Gly3628Cys)
c.8146G>T (p.Gly2716Cys)
c.7039G>T (p.Gly2347Cys)
c.11065G>T (p.Gly3689Cys)
c.6817G>T (p.Gly2273Cys)
c.10045G>T (p.Gly3349Cys)
8g.99861917G>ACA371790709VPS13Bc.*355G>A (n.*355G>A)
n.11331G>A
c.*6943G>A (n.*6943G>A)
c.11186G>A (p.Gly3729Asp)
c.11261G>A (p.Gly3754Asp)
c.11258G>A (p.Gly3753Asp)
c.11183G>A (p.Gly3728Asp)
c.10883G>A (p.Gly3628Asp)
c.8147G>A (p.Gly2716Asp)
c.7040G>A (p.Gly2347Asp)
c.11066G>A (p.Gly3689Asp)
c.6818G>A (p.Gly2273Asp)
c.10046G>A (p.Gly3349Asp)
 gnomAD v4
8g.99861917G>CCA371790710VPS13Bc.*355G>C (n.*355G>C)
n.11331G>C
c.*6943G>C (n.*6943G>C)
c.11186G>C (p.Gly3729Ala)
c.11261G>C (p.Gly3754Ala)
c.11258G>C (p.Gly3753Ala)
c.11183G>C (p.Gly3728Ala)
c.10883G>C (p.Gly3628Ala)
c.8147G>C (p.Gly2716Ala)
c.7040G>C (p.Gly2347Ala)
c.11066G>C (p.Gly3689Ala)
c.6818G>C (p.Gly2273Ala)
c.10046G>C (p.Gly3349Ala)
8g.99861917G>TCA371790711VPS13Bc.*355G>T (n.*355G>T)
n.11331G>T
c.*6943G>T (n.*6943G>T)
c.11186G>T (p.Gly3729Val)
c.11261G>T (p.Gly3754Val)
c.11258G>T (p.Gly3753Val)
c.11183G>T (p.Gly3728Val)
c.10883G>T (p.Gly3628Val)
c.8147G>T (p.Gly2716Val)
c.7040G>T (p.Gly2347Val)
c.11066G>T (p.Gly3689Val)
c.6818G>T (p.Gly2273Val)
c.10046G>T (p.Gly3349Val)
8g.99861918C>ACA462338490VPS13Bc.*356C>A (n.*356C>A)
n.11332C>A
c.*6944C>A (n.*6944C>A)
c.11187C>A (p.Gly3729=)
c.11262C>A (p.Gly3754=)
c.11259C>A (p.Gly3753=)
c.11184C>A (p.Gly3728=)
c.10884C>A (p.Gly3628=)
c.8148C>A (p.Gly2716=)
c.7041C>A (p.Gly2347=)
c.11067C>A (p.Gly3689=)
c.6819C>A (p.Gly2273=)
c.10047C>A (p.Gly3349=)
 gnomAD v4
8g.99861918C>GCA462338492VPS13Bc.*356C>G (n.*356C>G)
n.11332C>G
c.*6944C>G (n.*6944C>G)
c.11187C>G (p.Gly3729=)
c.11262C>G (p.Gly3754=)
c.11259C>G (p.Gly3753=)
c.11184C>G (p.Gly3728=)
c.10884C>G (p.Gly3628=)
c.8148C>G (p.Gly2716=)
c.7041C>G (p.Gly2347=)
c.11067C>G (p.Gly3689=)
c.6819C>G (p.Gly2273=)
c.10047C>G (p.Gly3349=)
 ClinVar
8g.99861918C>TCA462338494VPS13Bc.*356C>T (n.*356C>T)
n.11332C>T
c.*6944C>T (n.*6944C>T)
c.11187C>T (p.Gly3729=)
c.11262C>T (p.Gly3754=)
c.11259C>T (p.Gly3753=)
c.11184C>T (p.Gly3728=)
c.10884C>T (p.Gly3628=)
c.8148C>T (p.Gly2716=)
c.7041C>T (p.Gly2347=)
c.11067C>T (p.Gly3689=)
c.6819C>T (p.Gly2273=)
c.10047C>T (p.Gly3349=)
 dbSNP gnomAD v4
8g.99861919C>ACA371790712VPS13Bc.*357C>A (n.*357C>A)
n.11333C>A
c.*6945C>A (n.*6945C>A)
c.11188C>A (p.Leu3730Met)
c.11263C>A (p.Leu3755Met)
c.11260C>A (p.Leu3754Met)
c.11185C>A (p.Leu3729Met)
c.10885C>A (p.Leu3629Met)
c.8149C>A (p.Leu2717Met)
c.7042C>A (p.Leu2348Met)
c.11068C>A (p.Leu3690Met)
c.6820C>A (p.Leu2274Met)
c.10048C>A (p.Leu3350Met)
 gnomAD v4
8g.99861919C>GCA371790713VPS13Bc.*357C>G (n.*357C>G)
n.11333C>G
c.*6945C>G (n.*6945C>G)
c.11188C>G (p.Leu3730Val)
c.11263C>G (p.Leu3755Val)
c.11260C>G (p.Leu3754Val)
c.11185C>G (p.Leu3729Val)
c.10885C>G (p.Leu3629Val)
c.8149C>G (p.Leu2717Val)
c.7042C>G (p.Leu2348Val)
c.11068C>G (p.Leu3690Val)
c.6820C>G (p.Leu2274Val)
c.10048C>G (p.Leu3350Val)
8g.99861919C>TCA4825162VPS13Bc.*357C>T (n.*357C>T)
n.11333C>T
c.*6945C>T (n.*6945C>T)
c.11188C>T (p.Leu3730=)
c.11263C>T (p.Leu3755=)
c.11260C>T (p.Leu3754=)
c.11185C>T (p.Leu3729=)
c.10885C>T (p.Leu3629=)
c.8149C>T (p.Leu2717=)
c.7042C>T (p.Leu2348=)
c.11068C>T (p.Leu3690=)
c.6820C>T (p.Leu2274=)
c.10048C>T (p.Leu3350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861920T>ACA371790715VPS13Bc.*358T>A (n.*358T>A)
n.11334T>A
c.*6946T>A (n.*6946T>A)
c.11189T>A (p.Leu3730Gln)
c.11264T>A (p.Leu3755Gln)
c.11261T>A (p.Leu3754Gln)
c.11186T>A (p.Leu3729Gln)
c.10886T>A (p.Leu3629Gln)
c.8150T>A (p.Leu2717Gln)
c.7043T>A (p.Leu2348Gln)
c.11069T>A (p.Leu3690Gln)
c.6821T>A (p.Leu2274Gln)
c.10049T>A (p.Leu3350Gln)
8g.99861920T>CCA371790714VPS13Bc.*358T>C (n.*358T>C)
n.11334T>C
c.*6946T>C (n.*6946T>C)
c.11189T>C (p.Leu3730Pro)
c.11264T>C (p.Leu3755Pro)
c.11261T>C (p.Leu3754Pro)
c.11186T>C (p.Leu3729Pro)
c.10886T>C (p.Leu3629Pro)
c.8150T>C (p.Leu2717Pro)
c.7043T>C (p.Leu2348Pro)
c.11069T>C (p.Leu3690Pro)
c.6821T>C (p.Leu2274Pro)
c.10049T>C (p.Leu3350Pro)
 gnomAD v4
8g.99861920T>GCA371790716VPS13Bc.*358T>G (n.*358T>G)
n.11334T>G
c.*6946T>G (n.*6946T>G)
c.11189T>G (p.Leu3730Arg)
c.11264T>G (p.Leu3755Arg)
c.11261T>G (p.Leu3754Arg)
c.11186T>G (p.Leu3729Arg)
c.10886T>G (p.Leu3629Arg)
c.8150T>G (p.Leu2717Arg)
c.7043T>G (p.Leu2348Arg)
c.11069T>G (p.Leu3690Arg)
c.6821T>G (p.Leu2274Arg)
c.10049T>G (p.Leu3350Arg)
8g.99861921G>ACA462338507VPS13Bc.*359G>A (n.*359G>A)
n.11335G>A
c.*6947G>A (n.*6947G>A)
c.11190G>A (p.Leu3730=)
c.11265G>A (p.Leu3755=)
c.11262G>A (p.Leu3754=)
c.11187G>A (p.Leu3729=)
c.10887G>A (p.Leu3629=)
c.8151G>A (p.Leu2717=)
c.7044G>A (p.Leu2348=)
c.11070G>A (p.Leu3690=)
c.6822G>A (p.Leu2274=)
c.10050G>A (p.Leu3350=)
8g.99861921G>CCA462338509VPS13Bc.*359G>C (n.*359G>C)
n.11335G>C
c.*6947G>C (n.*6947G>C)
c.11190G>C (p.Leu3730=)
c.11265G>C (p.Leu3755=)
c.11262G>C (p.Leu3754=)
c.11187G>C (p.Leu3729=)
c.10887G>C (p.Leu3629=)
c.8151G>C (p.Leu2717=)
c.7044G>C (p.Leu2348=)
c.11070G>C (p.Leu3690=)
c.6822G>C (p.Leu2274=)
c.10050G>C (p.Leu3350=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861921G>TCA462338512VPS13Bc.*359G>T (n.*359G>T)
n.11335G>T
c.*6947G>T (n.*6947G>T)
c.11190G>T (p.Leu3730=)
c.11265G>T (p.Leu3755=)
c.11262G>T (p.Leu3754=)
c.11187G>T (p.Leu3729=)
c.10887G>T (p.Leu3629=)
c.8151G>T (p.Leu2717=)
c.7044G>T (p.Leu2348=)
c.11070G>T (p.Leu3690=)
c.6822G>T (p.Leu2274=)
c.10050G>T (p.Leu3350=)
8g.99861922T>ACA371790717VPS13Bc.*360T>A (n.*360T>A)
n.11336T>A
c.*6948T>A (n.*6948T>A)
c.11191T>A (p.Ser3731Thr)
c.11266T>A (p.Ser3756Thr)
c.11263T>A (p.Ser3755Thr)
c.11188T>A (p.Ser3730Thr)
c.10888T>A (p.Ser3630Thr)
c.8152T>A (p.Ser2718Thr)
c.7045T>A (p.Ser2349Thr)
c.11071T>A (p.Ser3691Thr)
c.6823T>A (p.Ser2275Thr)
c.10051T>A (p.Ser3351Thr)
 gnomAD v4
8g.99861922T>CCA371790718VPS13Bc.*360T>C (n.*360T>C)
n.11336T>C
c.*6948T>C (n.*6948T>C)
c.11191T>C (p.Ser3731Pro)
c.11266T>C (p.Ser3756Pro)
c.11263T>C (p.Ser3755Pro)
c.11188T>C (p.Ser3730Pro)
c.10888T>C (p.Ser3630Pro)
c.8152T>C (p.Ser2718Pro)
c.7045T>C (p.Ser2349Pro)
c.11071T>C (p.Ser3691Pro)
c.6823T>C (p.Ser2275Pro)
c.10051T>C (p.Ser3351Pro)
 ClinVar dbSNP
8g.99861922T>GCA371790719VPS13Bc.*360T>G (n.*360T>G)
n.11336T>G
c.*6948T>G (n.*6948T>G)
c.11191T>G (p.Ser3731Ala)
c.11266T>G (p.Ser3756Ala)
c.11263T>G (p.Ser3755Ala)
c.11188T>G (p.Ser3730Ala)
c.10888T>G (p.Ser3630Ala)
c.8152T>G (p.Ser2718Ala)
c.7045T>G (p.Ser2349Ala)
c.11071T>G (p.Ser3691Ala)
c.6823T>G (p.Ser2275Ala)
c.10051T>G (p.Ser3351Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.99861923C>ACA371790720VPS13Bc.*361C>A (n.*361C>A)
n.11337C>A
c.*6949C>A (n.*6949C>A)
c.11192C>A (p.Ser3731Tyr)
c.11267C>A (p.Ser3756Tyr)
c.11264C>A (p.Ser3755Tyr)
c.11189C>A (p.Ser3730Tyr)
c.10889C>A (p.Ser3630Tyr)
c.8153C>A (p.Ser2718Tyr)
c.7046C>A (p.Ser2349Tyr)
c.11072C>A (p.Ser3691Tyr)
c.6824C>A (p.Ser2275Tyr)
c.10052C>A (p.Ser3351Tyr)
 gnomAD v4
8g.99861923C>GCA371790721VPS13Bc.*361C>G (n.*361C>G)
n.11337C>G
c.*6949C>G (n.*6949C>G)
c.11192C>G (p.Ser3731Cys)
c.11267C>G (p.Ser3756Cys)
c.11264C>G (p.Ser3755Cys)
c.11189C>G (p.Ser3730Cys)
c.10889C>G (p.Ser3630Cys)
c.8153C>G (p.Ser2718Cys)
c.7046C>G (p.Ser2349Cys)
c.11072C>G (p.Ser3691Cys)
c.6824C>G (p.Ser2275Cys)
c.10052C>G (p.Ser3351Cys)
8g.99861923C>TCA371790722VPS13Bc.*361C>T (n.*361C>T)
n.11337C>T
c.*6949C>T (n.*6949C>T)
c.11192C>T (p.Ser3731Phe)
c.11267C>T (p.Ser3756Phe)
c.11264C>T (p.Ser3755Phe)
c.11189C>T (p.Ser3730Phe)
c.10889C>T (p.Ser3630Phe)
c.8153C>T (p.Ser2718Phe)
c.7046C>T (p.Ser2349Phe)
c.11072C>T (p.Ser3691Phe)
c.6824C>T (p.Ser2275Phe)
c.10052C>T (p.Ser3351Phe)
 dbSNP gnomAD v4
8g.99861924C>ACA462338523VPS13Bc.*362C>A (n.*362C>A)
n.11338C>A
c.*6950C>A (n.*6950C>A)
c.11193C>A (p.Ser3731=)
c.11268C>A (p.Ser3756=)
c.11265C>A (p.Ser3755=)
c.11190C>A (p.Ser3730=)
c.10890C>A (p.Ser3630=)
c.8154C>A (p.Ser2718=)
c.7047C>A (p.Ser2349=)
c.11073C>A (p.Ser3691=)
c.6825C>A (p.Ser2275=)
c.10053C>A (p.Ser3351=)
 gnomAD v4
8g.99861924C>GCA462338526VPS13Bc.*362C>G (n.*362C>G)
n.11338C>G
c.*6950C>G (n.*6950C>G)
c.11193C>G (p.Ser3731=)
c.11268C>G (p.Ser3756=)
c.11265C>G (p.Ser3755=)
c.11190C>G (p.Ser3730=)
c.10890C>G (p.Ser3630=)
c.8154C>G (p.Ser2718=)
c.7047C>G (p.Ser2349=)
c.11073C>G (p.Ser3691=)
c.6825C>G (p.Ser2275=)
c.10053C>G (p.Ser3351=)
8g.99861924C>TCA462338528VPS13Bc.*362C>T (n.*362C>T)
n.11338C>T
c.*6950C>T (n.*6950C>T)
c.11193C>T (p.Ser3731=)
c.11268C>T (p.Ser3756=)
c.11265C>T (p.Ser3755=)
c.11190C>T (p.Ser3730=)
c.10890C>T (p.Ser3630=)
c.8154C>T (p.Ser2718=)
c.7047C>T (p.Ser2349=)
c.11073C>T (p.Ser3691=)
c.6825C>T (p.Ser2275=)
c.10053C>T (p.Ser3351=)
 gnomAD v4
8g.99861925C>ACA462338531VPS13Bc.*363C>A (n.*363C>A)
n.11339C>A
c.*6951C>A (n.*6951C>A)
c.11194C>A (p.Arg3732=)
c.11269C>A (p.Arg3757=)
c.11266C>A (p.Arg3756=)
c.11191C>A (p.Arg3731=)
c.10891C>A (p.Arg3631=)
c.8155C>A (p.Arg2719=)
c.7048C>A (p.Arg2350=)
c.11074C>A (p.Arg3692=)
c.6826C>A (p.Arg2276=)
c.10054C>A (p.Arg3352=)
 gnomAD v4
8g.99861925C>GCA371790723VPS13Bc.*363C>G (n.*363C>G)
n.11339C>G
c.*6951C>G (n.*6951C>G)
c.11194C>G (p.Arg3732Gly)
c.11269C>G (p.Arg3757Gly)
c.11266C>G (p.Arg3756Gly)
c.11191C>G (p.Arg3731Gly)
c.10891C>G (p.Arg3631Gly)
c.8155C>G (p.Arg2719Gly)
c.7048C>G (p.Arg2350Gly)
c.11074C>G (p.Arg3692Gly)
c.6826C>G (p.Arg2276Gly)
c.10054C>G (p.Arg3352Gly)
8g.99861925C>TCA371790724VPS13Bc.*363C>T (n.*363C>T)
n.11339C>T
c.*6951C>T (n.*6951C>T)
c.11194C>T (p.Arg3732Trp)
c.11269C>T (p.Arg3757Trp)
c.11266C>T (p.Arg3756Trp)
c.11191C>T (p.Arg3731Trp)
c.10891C>T (p.Arg3631Trp)
c.8155C>T (p.Arg2719Trp)
c.7048C>T (p.Arg2350Trp)
c.11074C>T (p.Arg3692Trp)
c.6826C>T (p.Arg2276Trp)
c.10054C>T (p.Arg3352Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861926G>ACA203180VPS13Bc.*364G>A (n.*364G>A)
n.11340G>A
c.*6952G>A (n.*6952G>A)
c.11195G>A (p.Arg3732Gln)
c.11270G>A (p.Arg3757Gln)
c.11267G>A (p.Arg3756Gln)
c.11192G>A (p.Arg3731Gln)
c.10892G>A (p.Arg3631Gln)
c.8156G>A (p.Arg2719Gln)
c.7049G>A (p.Arg2350Gln)
c.11075G>A (p.Arg3692Gln)
c.6827G>A (p.Arg2276Gln)
c.10055G>A (p.Arg3352Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861926G>CCA371790725VPS13Bc.*364G>C (n.*364G>C)
n.11340G>C
c.*6952G>C (n.*6952G>C)
c.11195G>C (p.Arg3732Pro)
c.11270G>C (p.Arg3757Pro)
c.11267G>C (p.Arg3756Pro)
c.11192G>C (p.Arg3731Pro)
c.10892G>C (p.Arg3631Pro)
c.8156G>C (p.Arg2719Pro)
c.7049G>C (p.Arg2350Pro)
c.11075G>C (p.Arg3692Pro)
c.6827G>C (p.Arg2276Pro)
c.10055G>C (p.Arg3352Pro)
8g.99861926G>TCA371790726VPS13Bc.*364G>T (n.*364G>T)
n.11340G>T
c.*6952G>T (n.*6952G>T)
c.11195G>T (p.Arg3732Leu)
c.11270G>T (p.Arg3757Leu)
c.11267G>T (p.Arg3756Leu)
c.11192G>T (p.Arg3731Leu)
c.10892G>T (p.Arg3631Leu)
c.8156G>T (p.Arg2719Leu)
c.7049G>T (p.Arg2350Leu)
c.11075G>T (p.Arg3692Leu)
c.6827G>T (p.Arg2276Leu)
c.10055G>T (p.Arg3352Leu)
 gnomAD v4
8g.99861927G>ACA462338546VPS13Bc.*365G>A (n.*365G>A)
n.11341G>A
c.*6953G>A (n.*6953G>A)
c.11196G>A (p.Arg3732=)
c.11271G>A (p.Arg3757=)
c.11268G>A (p.Arg3756=)
c.11193G>A (p.Arg3731=)
c.10893G>A (p.Arg3631=)
c.8157G>A (p.Arg2719=)
c.7050G>A (p.Arg2350=)
c.11076G>A (p.Arg3692=)
c.6828G>A (p.Arg2276=)
c.10056G>A (p.Arg3352=)
 gnomAD v4
8g.99861927G>CCA462338544VPS13Bc.*365G>C (n.*365G>C)
n.11341G>C
c.*6953G>C (n.*6953G>C)
c.11196G>C (p.Arg3732=)
c.11271G>C (p.Arg3757=)
c.11268G>C (p.Arg3756=)
c.11193G>C (p.Arg3731=)
c.10893G>C (p.Arg3631=)
c.8157G>C (p.Arg2719=)
c.7050G>C (p.Arg2350=)
c.11076G>C (p.Arg3692=)
c.6828G>C (p.Arg2276=)
c.10056G>C (p.Arg3352=)
 dbSNP gnomAD v2
8g.99861927G>TCA462338543VPS13Bc.*365G>T (n.*365G>T)
n.11341G>T
c.*6953G>T (n.*6953G>T)
c.11196G>T (p.Arg3732=)
c.11271G>T (p.Arg3757=)
c.11268G>T (p.Arg3756=)
c.11193G>T (p.Arg3731=)
c.10893G>T (p.Arg3631=)
c.8157G>T (p.Arg2719=)
c.7050G>T (p.Arg2350=)
c.11076G>T (p.Arg3692=)
c.6828G>T (p.Arg2276=)
c.10056G>T (p.Arg3352=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99861928C>ACA371790727VPS13Bc.*366C>A (n.*366C>A)
n.11342C>A
c.*6954C>A (n.*6954C>A)
c.11197C>A (p.Leu3733Met)
c.11272C>A (p.Leu3758Met)
c.11269C>A (p.Leu3757Met)
c.11194C>A (p.Leu3732Met)
c.10894C>A (p.Leu3632Met)
c.8158C>A (p.Leu2720Met)
c.7051C>A (p.Leu2351Met)
c.11077C>A (p.Leu3693Met)
c.6829C>A (p.Leu2277Met)
c.10057C>A (p.Leu3353Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861928C>GCA371790728VPS13Bc.*366C>G (n.*366C>G)
n.11342C>G
c.*6954C>G (n.*6954C>G)
c.11197C>G (p.Leu3733Val)
c.11272C>G (p.Leu3758Val)
c.11269C>G (p.Leu3757Val)
c.11194C>G (p.Leu3732Val)
c.10894C>G (p.Leu3632Val)
c.8158C>G (p.Leu2720Val)
c.7051C>G (p.Leu2351Val)
c.11077C>G (p.Leu3693Val)
c.6829C>G (p.Leu2277Val)
c.10057C>G (p.Leu3353Val)
8g.99861928C>TCA462338553VPS13Bc.*366C>T (n.*366C>T)
n.11342C>T
c.*6954C>T (n.*6954C>T)
c.11197C>T (p.Leu3733=)
c.11272C>T (p.Leu3758=)
c.11269C>T (p.Leu3757=)
c.11194C>T (p.Leu3732=)
c.10894C>T (p.Leu3632=)
c.8158C>T (p.Leu2720=)
c.7051C>T (p.Leu2351=)
c.11077C>T (p.Leu3693=)
c.6829C>T (p.Leu2277=)
c.10057C>T (p.Leu3353=)
 gnomAD v4
8g.99861929T>ACA371790729VPS13Bc.*367T>A (n.*367T>A)
n.11343T>A
c.*6955T>A (n.*6955T>A)
c.11198T>A (p.Leu3733Gln)
c.11273T>A (p.Leu3758Gln)
c.11270T>A (p.Leu3757Gln)
c.11195T>A (p.Leu3732Gln)
c.10895T>A (p.Leu3632Gln)
c.8159T>A (p.Leu2720Gln)
c.7052T>A (p.Leu2351Gln)
c.11078T>A (p.Leu3693Gln)
c.6830T>A (p.Leu2277Gln)
c.10058T>A (p.Leu3353Gln)
8g.99861929T>CCA371790731VPS13Bc.*367T>C (n.*367T>C)
n.11343T>C
c.*6955T>C (n.*6955T>C)
c.11198T>C (p.Leu3733Pro)
c.11273T>C (p.Leu3758Pro)
c.11270T>C (p.Leu3757Pro)
c.11195T>C (p.Leu3732Pro)
c.10895T>C (p.Leu3632Pro)
c.8159T>C (p.Leu2720Pro)
c.7052T>C (p.Leu2351Pro)
c.11078T>C (p.Leu3693Pro)
c.6830T>C (p.Leu2277Pro)
c.10058T>C (p.Leu3353Pro)
 gnomAD v4
8g.99861929T>GCA371790730VPS13Bc.*367T>G (n.*367T>G)
n.11343T>G
c.*6955T>G (n.*6955T>G)
c.11198T>G (p.Leu3733Arg)
c.11273T>G (p.Leu3758Arg)
c.11270T>G (p.Leu3757Arg)
c.11195T>G (p.Leu3732Arg)
c.10895T>G (p.Leu3632Arg)
c.8159T>G (p.Leu2720Arg)
c.7052T>G (p.Leu2351Arg)
c.11078T>G (p.Leu3693Arg)
c.6830T>G (p.Leu2277Arg)
c.10058T>G (p.Leu3353Arg)
8g.99861930G>ACA462338568VPS13Bc.*368G>A (n.*368G>A)
n.11344G>A
c.*6956G>A (n.*6956G>A)
c.11199G>A (p.Leu3733=)
c.11274G>A (p.Leu3758=)
c.11271G>A (p.Leu3757=)
c.11196G>A (p.Leu3732=)
c.10896G>A (p.Leu3632=)
c.8160G>A (p.Leu2720=)
c.7053G>A (p.Leu2351=)
c.11079G>A (p.Leu3693=)
c.6831G>A (p.Leu2277=)
c.10059G>A (p.Leu3353=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861930G>CCA462338566VPS13Bc.*368G>C (n.*368G>C)
n.11344G>C
c.*6956G>C (n.*6956G>C)
c.11199G>C (p.Leu3733=)
c.11274G>C (p.Leu3758=)
c.11271G>C (p.Leu3757=)
c.11196G>C (p.Leu3732=)
c.10896G>C (p.Leu3632=)
c.8160G>C (p.Leu2720=)
c.7053G>C (p.Leu2351=)
c.11079G>C (p.Leu3693=)
c.6831G>C (p.Leu2277=)
c.10059G>C (p.Leu3353=)
 gnomAD v4
8g.99861930G>TCA462338564VPS13Bc.*368G>T (n.*368G>T)
n.11344G>T
c.*6956G>T (n.*6956G>T)
c.11199G>T (p.Leu3733=)
c.11274G>T (p.Leu3758=)
c.11271G>T (p.Leu3757=)
c.11196G>T (p.Leu3732=)
c.10896G>T (p.Leu3632=)
c.8160G>T (p.Leu2720=)
c.7053G>T (p.Leu2351=)
c.11079G>T (p.Leu3693=)
c.6831G>T (p.Leu2277=)
c.10059G>T (p.Leu3353=)
 gnomAD v4
8g.99861932delCA2688072213VPS13Bc.*370del (n.*370del)
n.11346del
c.*6958del (n.*6958del)
c.11201del (p.Gly3734AlafsTer11)
c.11276del (p.Gly3759AlafsTer11)
c.11273del (p.Gly3758AlafsTer11)
c.11198del (p.Gly3733AlafsTer11)
c.10898del (p.Gly3633AlafsTer11)
c.8162del (p.Gly2721AlafsTer11)
c.7055del (p.Gly2352AlafsTer11)
c.11081del (p.Gly3694AlafsTer11)
c.6833del (p.Gly2278AlafsTer11)
c.10061del (p.Gly3354AlafsTer11)
 gnomAD v4
8g.99861931G>ACA371790732VPS13Bc.*369G>A (n.*369G>A)
n.11345G>A
c.*6957G>A (n.*6957G>A)
c.11200G>A (p.Gly3734Ser)
c.11275G>A (p.Gly3759Ser)
c.11272G>A (p.Gly3758Ser)
c.11197G>A (p.Gly3733Ser)
c.10897G>A (p.Gly3633Ser)
c.8161G>A (p.Gly2721Ser)
c.7054G>A (p.Gly2352Ser)
c.11080G>A (p.Gly3694Ser)
c.6832G>A (p.Gly2278Ser)
c.10060G>A (p.Gly3354Ser)
8g.99861931G>CCA371790733VPS13Bc.*369G>C (n.*369G>C)
n.11345G>C
c.*6957G>C (n.*6957G>C)
c.11200G>C (p.Gly3734Arg)
c.11275G>C (p.Gly3759Arg)
c.11272G>C (p.Gly3758Arg)
c.11197G>C (p.Gly3733Arg)
c.10897G>C (p.Gly3633Arg)
c.8161G>C (p.Gly2721Arg)
c.7054G>C (p.Gly2352Arg)
c.11080G>C (p.Gly3694Arg)
c.6832G>C (p.Gly2278Arg)
c.10060G>C (p.Gly3354Arg)
 ClinVar
8g.99861931G>TCA371790734VPS13Bc.*369G>T (n.*369G>T)
n.11345G>T
c.*6957G>T (n.*6957G>T)
c.11200G>T (p.Gly3734Cys)
c.11275G>T (p.Gly3759Cys)
c.11272G>T (p.Gly3758Cys)
c.11197G>T (p.Gly3733Cys)
c.10897G>T (p.Gly3633Cys)
c.8161G>T (p.Gly2721Cys)
c.7054G>T (p.Gly2352Cys)
c.11080G>T (p.Gly3694Cys)
c.6832G>T (p.Gly2278Cys)
c.10060G>T (p.Gly3354Cys)
8g.99861932G>ACA371790735VPS13Bc.*370G>A (n.*370G>A)
n.11346G>A
c.*6958G>A (n.*6958G>A)
c.11201G>A (p.Gly3734Asp)
c.11276G>A (p.Gly3759Asp)
c.11273G>A (p.Gly3758Asp)
c.11198G>A (p.Gly3733Asp)
c.10898G>A (p.Gly3633Asp)
c.8162G>A (p.Gly2721Asp)
c.7055G>A (p.Gly2352Asp)
c.11081G>A (p.Gly3694Asp)
c.6833G>A (p.Gly2278Asp)
c.10061G>A (p.Gly3354Asp)
 gnomAD v4
8g.99861932G>CCA371790736VPS13Bc.*370G>C (n.*370G>C)
n.11346G>C
c.*6958G>C (n.*6958G>C)
c.11201G>C (p.Gly3734Ala)
c.11276G>C (p.Gly3759Ala)
c.11273G>C (p.Gly3758Ala)
c.11198G>C (p.Gly3733Ala)
c.10898G>C (p.Gly3633Ala)
c.8162G>C (p.Gly2721Ala)
c.7055G>C (p.Gly2352Ala)
c.11081G>C (p.Gly3694Ala)
c.6833G>C (p.Gly2278Ala)
c.10061G>C (p.Gly3354Ala)
8g.99861932G>TCA371790737VPS13Bc.*370G>T (n.*370G>T)
n.11346G>T
c.*6958G>T (n.*6958G>T)
c.11201G>T (p.Gly3734Val)
c.11276G>T (p.Gly3759Val)
c.11273G>T (p.Gly3758Val)
c.11198G>T (p.Gly3733Val)
c.10898G>T (p.Gly3633Val)
c.8162G>T (p.Gly2721Val)
c.7055G>T (p.Gly2352Val)
c.11081G>T (p.Gly3694Val)
c.6833G>T (p.Gly2278Val)
c.10061G>T (p.Gly3354Val)
 gnomAD v4
8g.99861933C>ACA462338579VPS13Bc.*371C>A (n.*371C>A)
n.11347C>A
c.*6959C>A (n.*6959C>A)
c.11202C>A (p.Gly3734=)
c.11277C>A (p.Gly3759=)
c.11274C>A (p.Gly3758=)
c.11199C>A (p.Gly3733=)
c.10899C>A (p.Gly3633=)
c.8163C>A (p.Gly2721=)
c.7056C>A (p.Gly2352=)
c.11082C>A (p.Gly3694=)
c.6834C>A (p.Gly2278=)
c.10062C>A (p.Gly3354=)
 gnomAD v4
8g.99861933C>GCA462338583VPS13Bc.*371C>G (n.*371C>G)
n.11347C>G
c.*6959C>G (n.*6959C>G)
c.11202C>G (p.Gly3734=)
c.11277C>G (p.Gly3759=)
c.11274C>G (p.Gly3758=)
c.11199C>G (p.Gly3733=)
c.10899C>G (p.Gly3633=)
c.8163C>G (p.Gly2721=)
c.7056C>G (p.Gly2352=)
c.11082C>G (p.Gly3694=)
c.6834C>G (p.Gly2278=)
c.10062C>G (p.Gly3354=)
8g.99861933C>TCA4825163VPS13Bc.*371C>T (n.*371C>T)
n.11347C>T
c.*6959C>T (n.*6959C>T)
c.11202C>T (p.Gly3734=)
c.11277C>T (p.Gly3759=)
c.11274C>T (p.Gly3758=)
c.11199C>T (p.Gly3733=)
c.10899C>T (p.Gly3633=)
c.8163C>T (p.Gly2721=)
c.7056C>T (p.Gly2352=)
c.11082C>T (p.Gly3694=)
c.6834C>T (p.Gly2278=)
c.10062C>T (p.Gly3354=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861934A>CCA371790738VPS13Bc.*372A>C (n.*372A>C)
n.11348A>C
c.*6960A>C (n.*6960A>C)
c.11203A>C (p.Ile3735Leu)
c.11278A>C (p.Ile3760Leu)
c.11275A>C (p.Ile3759Leu)
c.11200A>C (p.Ile3734Leu)
c.10900A>C (p.Ile3634Leu)
c.8164A>C (p.Ile2722Leu)
c.7057A>C (p.Ile2353Leu)
c.11083A>C (p.Ile3695Leu)
c.6835A>C (p.Ile2279Leu)
c.10063A>C (p.Ile3355Leu)
8g.99861934A>GCA371790739VPS13Bc.*372A>G (n.*372A>G)
n.11348A>G
c.*6960A>G (n.*6960A>G)
c.11203A>G (p.Ile3735Val)
c.11278A>G (p.Ile3760Val)
c.11275A>G (p.Ile3759Val)
c.11200A>G (p.Ile3734Val)
c.10900A>G (p.Ile3634Val)
c.8164A>G (p.Ile2722Val)
c.7057A>G (p.Ile2353Val)
c.11083A>G (p.Ile3695Val)
c.6835A>G (p.Ile2279Val)
c.10063A>G (p.Ile3355Val)
 gnomAD v4
8g.99861934A>TCA371790740VPS13Bc.*372A>T (n.*372A>T)
n.11348A>T
c.*6960A>T (n.*6960A>T)
c.11203A>T (p.Ile3735Phe)
c.11278A>T (p.Ile3760Phe)
c.11275A>T (p.Ile3759Phe)
c.11200A>T (p.Ile3734Phe)
c.10900A>T (p.Ile3634Phe)
c.8164A>T (p.Ile2722Phe)
c.7057A>T (p.Ile2353Phe)
c.11083A>T (p.Ile3695Phe)
c.6835A>T (p.Ile2279Phe)
c.10063A>T (p.Ile3355Phe)
8g.99861935T>ACA371790742VPS13Bc.*373T>A (n.*373T>A)
n.11349T>A
c.*6961T>A (n.*6961T>A)
c.11204T>A (p.Ile3735Asn)
c.11279T>A (p.Ile3760Asn)
c.11276T>A (p.Ile3759Asn)
c.11201T>A (p.Ile3734Asn)
c.10901T>A (p.Ile3634Asn)
c.8165T>A (p.Ile2722Asn)
c.7058T>A (p.Ile2353Asn)
c.11084T>A (p.Ile3695Asn)
c.6836T>A (p.Ile2279Asn)
c.10064T>A (p.Ile3355Asn)
8g.99861935T>CCA371790743VPS13Bc.*373T>C (n.*373T>C)
n.11349T>C
c.*6961T>C (n.*6961T>C)
c.11204T>C (p.Ile3735Thr)
c.11279T>C (p.Ile3760Thr)
c.11276T>C (p.Ile3759Thr)
c.11201T>C (p.Ile3734Thr)
c.10901T>C (p.Ile3634Thr)
c.8165T>C (p.Ile2722Thr)
c.7058T>C (p.Ile2353Thr)
c.11084T>C (p.Ile3695Thr)
c.6836T>C (p.Ile2279Thr)
c.10064T>C (p.Ile3355Thr)
 gnomAD v4
8g.99861935T>GCA371790741VPS13Bc.*373T>G (n.*373T>G)
n.11349T>G
c.*6961T>G (n.*6961T>G)
c.11204T>G (p.Ile3735Ser)
c.11279T>G (p.Ile3760Ser)
c.11276T>G (p.Ile3759Ser)
c.11201T>G (p.Ile3734Ser)
c.10901T>G (p.Ile3634Ser)
c.8165T>G (p.Ile2722Ser)
c.7058T>G (p.Ile2353Ser)
c.11084T>G (p.Ile3695Ser)
c.6836T>G (p.Ile2279Ser)
c.10064T>G (p.Ile3355Ser)
8g.99861936C>ACA462338596VPS13Bc.*374C>A (n.*374C>A)
n.11350C>A
c.*6962C>A (n.*6962C>A)
c.11205C>A (p.Ile3735=)
c.11280C>A (p.Ile3760=)
c.11277C>A (p.Ile3759=)
c.11202C>A (p.Ile3734=)
c.10902C>A (p.Ile3634=)
c.8166C>A (p.Ile2722=)
c.7059C>A (p.Ile2353=)
c.11085C>A (p.Ile3695=)
c.6837C>A (p.Ile2279=)
c.10065C>A (p.Ile3355=)
 dbSNP gnomAD v4
8g.99861936C>GCA371790744VPS13Bc.*374C>G (n.*374C>G)
n.11350C>G
c.*6962C>G (n.*6962C>G)
c.11205C>G (p.Ile3735Met)
c.11280C>G (p.Ile3760Met)
c.11277C>G (p.Ile3759Met)
c.11202C>G (p.Ile3734Met)
c.10902C>G (p.Ile3634Met)
c.8166C>G (p.Ile2722Met)
c.7059C>G (p.Ile2353Met)
c.11085C>G (p.Ile3695Met)
c.6837C>G (p.Ile2279Met)
c.10065C>G (p.Ile3355Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861936C>TCA462338602VPS13Bc.*374C>T (n.*374C>T)
n.11350C>T
c.*6962C>T (n.*6962C>T)
c.11205C>T (p.Ile3735=)
c.11280C>T (p.Ile3760=)
c.11277C>T (p.Ile3759=)
c.11202C>T (p.Ile3734=)
c.10902C>T (p.Ile3634=)
c.8166C>T (p.Ile2722=)
c.7059C>T (p.Ile2353=)
c.11085C>T (p.Ile3695=)
c.6837C>T (p.Ile2279=)
c.10065C>T (p.Ile3355=)
 gnomAD v4
8g.99861937A>CCA371790745VPS13Bc.*375A>C (n.*375A>C)
n.11351A>C
c.*6963A>C (n.*6963A>C)
c.11206A>C (p.Ser3736Arg)
c.11281A>C (p.Ser3761Arg)
c.11278A>C (p.Ser3760Arg)
c.11203A>C (p.Ser3735Arg)
c.10903A>C (p.Ser3635Arg)
c.8167A>C (p.Ser2723Arg)
c.7060A>C (p.Ser2354Arg)
c.11086A>C (p.Ser3696Arg)
c.6838A>C (p.Ser2280Arg)
c.10066A>C (p.Ser3356Arg)
8g.99861937A>GCA371790746VPS13Bc.*375A>G (n.*375A>G)
n.11351A>G
c.*6963A>G (n.*6963A>G)
c.11206A>G (p.Ser3736Gly)
c.11281A>G (p.Ser3761Gly)
c.11278A>G (p.Ser3760Gly)
c.11203A>G (p.Ser3735Gly)
c.10903A>G (p.Ser3635Gly)
c.8167A>G (p.Ser2723Gly)
c.7060A>G (p.Ser2354Gly)
c.11086A>G (p.Ser3696Gly)
c.6838A>G (p.Ser2280Gly)
c.10066A>G (p.Ser3356Gly)
 gnomAD v4
8g.99861937A>TCA371790747VPS13Bc.*375A>T (n.*375A>T)
n.11351A>T
c.*6963A>T (n.*6963A>T)
c.11206A>T (p.Ser3736Cys)
c.11281A>T (p.Ser3761Cys)
c.11278A>T (p.Ser3760Cys)
c.11203A>T (p.Ser3735Cys)
c.10903A>T (p.Ser3635Cys)
c.8167A>T (p.Ser2723Cys)
c.7060A>T (p.Ser2354Cys)
c.11086A>T (p.Ser3696Cys)
c.6838A>T (p.Ser2280Cys)
c.10066A>T (p.Ser3356Cys)
 ClinVar dbSNP gnomAD v4
8g.99861938G>ACA371790748VPS13Bc.*376G>A (n.*376G>A)
n.11352G>A
c.*6964G>A (n.*6964G>A)
c.11207G>A (p.Ser3736Asn)
c.11282G>A (p.Ser3761Asn)
c.11279G>A (p.Ser3760Asn)
c.11204G>A (p.Ser3735Asn)
c.10904G>A (p.Ser3635Asn)
c.8168G>A (p.Ser2723Asn)
c.7061G>A (p.Ser2354Asn)
c.11087G>A (p.Ser3696Asn)
c.6839G>A (p.Ser2280Asn)
c.10067G>A (p.Ser3356Asn)
 dbSNP gnomAD v4
8g.99861938G>CCA371790749VPS13Bc.*376G>C (n.*376G>C)
n.11352G>C
c.*6964G>C (n.*6964G>C)
c.11207G>C (p.Ser3736Thr)
c.11282G>C (p.Ser3761Thr)
c.11279G>C (p.Ser3760Thr)
c.11204G>C (p.Ser3735Thr)
c.10904G>C (p.Ser3635Thr)
c.8168G>C (p.Ser2723Thr)
c.7061G>C (p.Ser2354Thr)
c.11087G>C (p.Ser3696Thr)
c.6839G>C (p.Ser2280Thr)
c.10067G>C (p.Ser3356Thr)
8g.99861938G>TCA371790750VPS13Bc.*376G>T (n.*376G>T)
n.11352G>T
c.*6964G>T (n.*6964G>T)
c.11207G>T (p.Ser3736Ile)
c.11282G>T (p.Ser3761Ile)
c.11279G>T (p.Ser3760Ile)
c.11204G>T (p.Ser3735Ile)
c.10904G>T (p.Ser3635Ile)
c.8168G>T (p.Ser2723Ile)
c.7061G>T (p.Ser2354Ile)
c.11087G>T (p.Ser3696Ile)
c.6839G>T (p.Ser2280Ile)
c.10067G>T (p.Ser3356Ile)
 gnomAD v4
8g.99861939C>ACA371790751VPS13Bc.*377C>A (n.*377C>A)
n.11353C>A
c.*6965C>A (n.*6965C>A)
c.11208C>A (p.Ser3736Arg)
c.11283C>A (p.Ser3761Arg)
c.11280C>A (p.Ser3760Arg)
c.11205C>A (p.Ser3735Arg)
c.10905C>A (p.Ser3635Arg)
c.8169C>A (p.Ser2723Arg)
c.7062C>A (p.Ser2354Arg)
c.11088C>A (p.Ser3696Arg)
c.6840C>A (p.Ser2280Arg)
c.10068C>A (p.Ser3356Arg)
 gnomAD v4
8g.99861939C>GCA371790752VPS13Bc.*377C>G (n.*377C>G)
n.11353C>G
c.*6965C>G (n.*6965C>G)
c.11208C>G (p.Ser3736Arg)
c.11283C>G (p.Ser3761Arg)
c.11280C>G (p.Ser3760Arg)
c.11205C>G (p.Ser3735Arg)
c.10905C>G (p.Ser3635Arg)
c.8169C>G (p.Ser2723Arg)
c.7062C>G (p.Ser2354Arg)
c.11088C>G (p.Ser3696Arg)
c.6840C>G (p.Ser2280Arg)
c.10068C>G (p.Ser3356Arg)
 gnomAD v4
8g.99861939C>TCA4825164VPS13Bc.*377C>T (n.*377C>T)
n.11353C>T
c.*6965C>T (n.*6965C>T)
c.11208C>T (p.Ser3736=)
c.11283C>T (p.Ser3761=)
c.11280C>T (p.Ser3760=)
c.11205C>T (p.Ser3735=)
c.10905C>T (p.Ser3635=)
c.8169C>T (p.Ser2723=)
c.7062C>T (p.Ser2354=)
c.11088C>T (p.Ser3696=)
c.6840C>T (p.Ser2280=)
c.10068C>T (p.Ser3356=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861940C>ACA371790753VPS13Bc.*378C>A (n.*378C>A)
n.11354C>A
c.*6966C>A (n.*6966C>A)
c.11209C>A (p.Leu3737Met)
c.11284C>A (p.Leu3762Met)
c.11281C>A (p.Leu3761Met)
c.11206C>A (p.Leu3736Met)
c.10906C>A (p.Leu3636Met)
c.8170C>A (p.Leu2724Met)
c.7063C>A (p.Leu2355Met)
c.11089C>A (p.Leu3697Met)
c.6841C>A (p.Leu2281Met)
c.10069C>A (p.Leu3357Met)
 gnomAD v4
8g.99861940C>GCA371790754VPS13Bc.*378C>G (n.*378C>G)
n.11354C>G
c.*6966C>G (n.*6966C>G)
c.11209C>G (p.Leu3737Val)
c.11284C>G (p.Leu3762Val)
c.11281C>G (p.Leu3761Val)
c.11206C>G (p.Leu3736Val)
c.10906C>G (p.Leu3636Val)
c.8170C>G (p.Leu2724Val)
c.7063C>G (p.Leu2355Val)
c.11089C>G (p.Leu3697Val)
c.6841C>G (p.Leu2281Val)
c.10069C>G (p.Leu3357Val)
8g.99861940C>TCA462338619VPS13Bc.*378C>T (n.*378C>T)
n.11354C>T
c.*6966C>T (n.*6966C>T)
c.11209C>T (p.Leu3737=)
c.11284C>T (p.Leu3762=)
c.11281C>T (p.Leu3761=)
c.11206C>T (p.Leu3736=)
c.10906C>T (p.Leu3636=)
c.8170C>T (p.Leu2724=)
c.7063C>T (p.Leu2355=)
c.11089C>T (p.Leu3697=)
c.6841C>T (p.Leu2281=)
c.10069C>T (p.Leu3357=)
8g.99861941T>ACA371790756VPS13Bc.*379T>A (n.*379T>A)
n.11355T>A
c.*6967T>A (n.*6967T>A)
c.11210T>A (p.Leu3737Gln)
c.11285T>A (p.Leu3762Gln)
c.11282T>A (p.Leu3761Gln)
c.11207T>A (p.Leu3736Gln)
c.10907T>A (p.Leu3636Gln)
c.8171T>A (p.Leu2724Gln)
c.7064T>A (p.Leu2355Gln)
c.11090T>A (p.Leu3697Gln)
c.6842T>A (p.Leu2281Gln)
c.10070T>A (p.Leu3357Gln)
8g.99861941T>CCA371790757VPS13Bc.*379T>C (n.*379T>C)
n.11355T>C
c.*6967T>C (n.*6967T>C)
c.11210T>C (p.Leu3737Pro)
c.11285T>C (p.Leu3762Pro)
c.11282T>C (p.Leu3761Pro)
c.11207T>C (p.Leu3736Pro)
c.10907T>C (p.Leu3636Pro)
c.8171T>C (p.Leu2724Pro)
c.7064T>C (p.Leu2355Pro)
c.11090T>C (p.Leu3697Pro)
c.6842T>C (p.Leu2281Pro)
c.10070T>C (p.Leu3357Pro)
8g.99861941T>GCA371790755VPS13Bc.*379T>G (n.*379T>G)
n.11355T>G
c.*6967T>G (n.*6967T>G)
c.11210T>G (p.Leu3737Arg)
c.11285T>G (p.Leu3762Arg)
c.11282T>G (p.Leu3761Arg)
c.11207T>G (p.Leu3736Arg)
c.10907T>G (p.Leu3636Arg)
c.8171T>G (p.Leu2724Arg)
c.7064T>G (p.Leu2355Arg)
c.11090T>G (p.Leu3697Arg)
c.6842T>G (p.Leu2281Arg)
c.10070T>G (p.Leu3357Arg)
8g.99861942G>ACA462338622VPS13Bc.*380G>A (n.*380G>A)
n.11356G>A
c.*6968G>A (n.*6968G>A)
c.11211G>A (p.Leu3737=)
c.11286G>A (p.Leu3762=)
c.11283G>A (p.Leu3761=)
c.11208G>A (p.Leu3736=)
c.10908G>A (p.Leu3636=)
c.8172G>A (p.Leu2724=)
c.7065G>A (p.Leu2355=)
c.11091G>A (p.Leu3697=)
c.6843G>A (p.Leu2281=)
c.10071G>A (p.Leu3357=)
 ClinVar dbSNP gnomAD v4
8g.99861942G>CCA462338629VPS13Bc.*380G>C (n.*380G>C)
n.11356G>C
c.*6968G>C (n.*6968G>C)
c.11211G>C (p.Leu3737=)
c.11286G>C (p.Leu3762=)
c.11283G>C (p.Leu3761=)
c.11208G>C (p.Leu3736=)
c.10908G>C (p.Leu3636=)
c.8172G>C (p.Leu2724=)
c.7065G>C (p.Leu2355=)
c.11091G>C (p.Leu3697=)
c.6843G>C (p.Leu2281=)
c.10071G>C (p.Leu3357=)
8g.99861942G>TCA462338637VPS13Bc.*380G>T (n.*380G>T)
n.11356G>T
c.*6968G>T (n.*6968G>T)
c.11211G>T (p.Leu3737=)
c.11286G>T (p.Leu3762=)
c.11283G>T (p.Leu3761=)
c.11208G>T (p.Leu3736=)
c.10908G>T (p.Leu3636=)
c.8172G>T (p.Leu2724=)
c.7065G>T (p.Leu2355=)
c.11091G>T (p.Leu3697=)
c.6843G>T (p.Leu2281=)
c.10071G>T (p.Leu3357=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861943C>ACA371790758VPS13Bc.*381C>A (n.*381C>A)
n.11357C>A
c.*6969C>A (n.*6969C>A)
c.11212C>A (p.Leu3738Ile)
c.11287C>A (p.Leu3763Ile)
c.11284C>A (p.Leu3762Ile)
c.11209C>A (p.Leu3737Ile)
c.10909C>A (p.Leu3637Ile)
c.8173C>A (p.Leu2725Ile)
c.7066C>A (p.Leu2356Ile)
c.11092C>A (p.Leu3698Ile)
c.6844C>A (p.Leu2282Ile)
c.10072C>A (p.Leu3358Ile)
 gnomAD v4
8g.99861943C>GCA371790759VPS13Bc.*381C>G (n.*381C>G)
n.11357C>G
c.*6969C>G (n.*6969C>G)
c.11212C>G (p.Leu3738Val)
c.11287C>G (p.Leu3763Val)
c.11284C>G (p.Leu3762Val)
c.11209C>G (p.Leu3737Val)
c.10909C>G (p.Leu3637Val)
c.8173C>G (p.Leu2725Val)
c.7066C>G (p.Leu2356Val)
c.11092C>G (p.Leu3698Val)
c.6844C>G (p.Leu2282Val)
c.10072C>G (p.Leu3358Val)
8g.99861943C>TCA371790760VPS13Bc.*381C>T (n.*381C>T)
n.11357C>T
c.*6969C>T (n.*6969C>T)
c.11212C>T (p.Leu3738Phe)
c.11287C>T (p.Leu3763Phe)
c.11284C>T (p.Leu3762Phe)
c.11209C>T (p.Leu3737Phe)
c.10909C>T (p.Leu3637Phe)
c.8173C>T (p.Leu2725Phe)
c.7066C>T (p.Leu2356Phe)
c.11092C>T (p.Leu3698Phe)
c.6844C>T (p.Leu2282Phe)
c.10072C>T (p.Leu3358Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.99861944T>ACA371790761VPS13Bc.*382T>A (n.*382T>A)
n.11358T>A
c.*6970T>A (n.*6970T>A)
c.11213T>A (p.Leu3738His)
c.11288T>A (p.Leu3763His)
c.11285T>A (p.Leu3762His)
c.11210T>A (p.Leu3737His)
c.10910T>A (p.Leu3637His)
c.8174T>A (p.Leu2725His)
c.7067T>A (p.Leu2356His)
c.11093T>A (p.Leu3698His)
c.6845T>A (p.Leu2282His)
c.10073T>A (p.Leu3358His)
8g.99861944T>CCA371790762VPS13Bc.*382T>C (n.*382T>C)
n.11358T>C
c.*6970T>C (n.*6970T>C)
c.11213T>C (p.Leu3738Pro)
c.11288T>C (p.Leu3763Pro)
c.11285T>C (p.Leu3762Pro)
c.11210T>C (p.Leu3737Pro)
c.10910T>C (p.Leu3637Pro)
c.8174T>C (p.Leu2725Pro)
c.7067T>C (p.Leu2356Pro)
c.11093T>C (p.Leu3698Pro)
c.6845T>C (p.Leu2282Pro)
c.10073T>C (p.Leu3358Pro)
8g.99861944T>GCA371790763VPS13Bc.*382T>G (n.*382T>G)
n.11358T>G
c.*6970T>G (n.*6970T>G)
c.11213T>G (p.Leu3738Arg)
c.11288T>G (p.Leu3763Arg)
c.11285T>G (p.Leu3762Arg)
c.11210T>G (p.Leu3737Arg)
c.10910T>G (p.Leu3637Arg)
c.8174T>G (p.Leu2725Arg)
c.7067T>G (p.Leu2356Arg)
c.11093T>G (p.Leu3698Arg)
c.6845T>G (p.Leu2282Arg)
c.10073T>G (p.Leu3358Arg)
8g.99861945T>ACA462338646VPS13Bc.*383T>A (n.*383T>A)
n.11359T>A
c.*6971T>A (n.*6971T>A)
c.11214T>A (p.Leu3738=)
c.11289T>A (p.Leu3763=)
c.11286T>A (p.Leu3762=)
c.11211T>A (p.Leu3737=)
c.10911T>A (p.Leu3637=)
c.8175T>A (p.Leu2725=)
c.7068T>A (p.Leu2356=)
c.11094T>A (p.Leu3698=)
c.6846T>A (p.Leu2282=)
c.10074T>A (p.Leu3358=)
 dbSNP gnomAD v4
8g.99861945T>CCA462338648VPS13Bc.*383T>C (n.*383T>C)
n.11359T>C
c.*6971T>C (n.*6971T>C)
c.11214T>C (p.Leu3738=)
c.11289T>C (p.Leu3763=)
c.11286T>C (p.Leu3762=)
c.11211T>C (p.Leu3737=)
c.10911T>C (p.Leu3637=)
c.8175T>C (p.Leu2725=)
c.7068T>C (p.Leu2356=)
c.11094T>C (p.Leu3698=)
c.6846T>C (p.Leu2282=)
c.10074T>C (p.Leu3358=)
 gnomAD v4
8g.99861945T>GCA462338650VPS13Bc.*383T>G (n.*383T>G)
n.11359T>G
c.*6971T>G (n.*6971T>G)
c.11214T>G (p.Leu3738=)
c.11289T>G (p.Leu3763=)
c.11286T>G (p.Leu3762=)
c.11211T>G (p.Leu3737=)
c.10911T>G (p.Leu3637=)
c.8175T>G (p.Leu2725=)
c.7068T>G (p.Leu2356=)
c.11094T>G (p.Leu3698=)
c.6846T>G (p.Leu2282=)
c.10074T>G (p.Leu3358=)
8g.99861946G>ACA371790766VPS13Bc.*384G>A (n.*384G>A)
n.11360G>A
c.*6972G>A (n.*6972G>A)
c.11215G>A (p.Gly3739Ser)
c.11290G>A (p.Gly3764Ser)
c.11287G>A (p.Gly3763Ser)
c.11212G>A (p.Gly3738Ser)
c.10912G>A (p.Gly3638Ser)
c.8176G>A (p.Gly2726Ser)
c.7069G>A (p.Gly2357Ser)
c.11095G>A (p.Gly3699Ser)
c.6847G>A (p.Gly2283Ser)
c.10075G>A (p.Gly3359Ser)
8g.99861946G>CCA371790764VPS13Bc.*384G>C (n.*384G>C)
n.11360G>C
c.*6972G>C (n.*6972G>C)
c.11215G>C (p.Gly3739Arg)
c.11290G>C (p.Gly3764Arg)
c.11287G>C (p.Gly3763Arg)
c.11212G>C (p.Gly3738Arg)
c.10912G>C (p.Gly3638Arg)
c.8176G>C (p.Gly2726Arg)
c.7069G>C (p.Gly2357Arg)
c.11095G>C (p.Gly3699Arg)
c.6847G>C (p.Gly2283Arg)
c.10075G>C (p.Gly3359Arg)
8g.99861946G>TCA371790765VPS13Bc.*384G>T (n.*384G>T)
n.11360G>T
c.*6972G>T (n.*6972G>T)
c.11215G>T (p.Gly3739Cys)
c.11290G>T (p.Gly3764Cys)
c.11287G>T (p.Gly3763Cys)
c.11212G>T (p.Gly3738Cys)
c.10912G>T (p.Gly3638Cys)
c.8176G>T (p.Gly2726Cys)
c.7069G>T (p.Gly2357Cys)
c.11095G>T (p.Gly3699Cys)
c.6847G>T (p.Gly2283Cys)
c.10075G>T (p.Gly3359Cys)
 dbSNP gnomAD v4
8g.99861947G>ACA371790767VPS13Bc.*384+1G>A (n.*384+1G>A)
n.11360+1G>A
c.*6972+1G>A (n.*6972+1G>A)
c.11215+1G>A (n.11215+1G>A)
c.11290+1G>A (n.11290+1G>A)
c.11287+1G>A (n.11287+1G>A)
c.11212+1G>A (n.11212+1G>A)
c.10912+1G>A (n.10912+1G>A)
c.8176+1G>A (n.8176+1G>A)
c.7069+1G>A (n.7069+1G>A)
c.11095+1G>A (n.11095+1G>A)
c.6847+1G>A (n.6847+1G>A)
c.10075+1G>A (n.10075+1G>A)
8g.99861947G>CCA371790768VPS13Bc.*384+1G>C (n.*384+1G>C)
n.11360+1G>C
c.*6972+1G>C (n.*6972+1G>C)
c.11215+1G>C (n.11215+1G>C)
c.11290+1G>C (n.11290+1G>C)
c.11287+1G>C (n.11287+1G>C)
c.11212+1G>C (n.11212+1G>C)
c.10912+1G>C (n.10912+1G>C)
c.8176+1G>C (n.8176+1G>C)
c.7069+1G>C (n.7069+1G>C)
c.11095+1G>C (n.11095+1G>C)
c.6847+1G>C (n.6847+1G>C)
c.10075+1G>C (n.10075+1G>C)
8g.99861947G>TCA4825165VPS13Bc.*384+1G>T (n.*384+1G>T)
n.11360+1G>T
c.*6972+1G>T (n.*6972+1G>T)
c.11215+1G>T (n.11215+1G>T)
c.11290+1G>T (n.11290+1G>T)
c.11287+1G>T (n.11287+1G>T)
c.11212+1G>T (n.11212+1G>T)
c.10912+1G>T (n.10912+1G>T)
c.8176+1G>T (n.8176+1G>T)
c.7069+1G>T (n.7069+1G>T)
c.11095+1G>T (n.11095+1G>T)
c.6847+1G>T (n.6847+1G>T)
c.10075+1G>T (n.10075+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861948T>ACA371790769VPS13Bc.*384+2T>A (n.*384+2T>A)
n.11360+2T>A
c.*6972+2T>A (n.*6972+2T>A)
c.11215+2T>A (n.11215+2T>A)
c.11290+2T>A (n.11290+2T>A)
c.11287+2T>A (n.11287+2T>A)
c.11212+2T>A (n.11212+2T>A)
c.10912+2T>A (n.10912+2T>A)
c.8176+2T>A (n.8176+2T>A)
c.7069+2T>A (n.7069+2T>A)
c.11095+2T>A (n.11095+2T>A)
c.6847+2T>A (n.6847+2T>A)
c.10075+2T>A (n.10075+2T>A)
8g.99861948T>CCA371790770VPS13Bc.*384+2T>C (n.*384+2T>C)
n.11360+2T>C
c.*6972+2T>C (n.*6972+2T>C)
c.11215+2T>C (n.11215+2T>C)
c.11290+2T>C (n.11290+2T>C)
c.11287+2T>C (n.11287+2T>C)
c.11212+2T>C (n.11212+2T>C)
c.10912+2T>C (n.10912+2T>C)
c.8176+2T>C (n.8176+2T>C)
c.7069+2T>C (n.7069+2T>C)
c.11095+2T>C (n.11095+2T>C)
c.6847+2T>C (n.6847+2T>C)
c.10075+2T>C (n.10075+2T>C)
8g.99861948T>GCA371790771VPS13Bc.*384+2T>G (n.*384+2T>G)
n.11360+2T>G
c.*6972+2T>G (n.*6972+2T>G)
c.11215+2T>G (n.11215+2T>G)
c.11290+2T>G (n.11290+2T>G)
c.11287+2T>G (n.11287+2T>G)
c.11212+2T>G (n.11212+2T>G)
c.10912+2T>G (n.10912+2T>G)
c.8176+2T>G (n.8176+2T>G)
c.7069+2T>G (n.7069+2T>G)
c.11095+2T>G (n.11095+2T>G)
c.6847+2T>G (n.6847+2T>G)
c.10075+2T>G (n.10075+2T>G)
8g.99861949A>GCA2688072221VPS13Bc.*384+3A>G (n.*384+3A>G)
n.11360+3A>G
c.*6972+3A>G (n.*6972+3A>G)
c.11215+3A>G (n.11215+3A>G)
c.11290+3A>G (n.11290+3A>G)
c.11287+3A>G (n.11287+3A>G)
c.11212+3A>G (n.11212+3A>G)
c.10912+3A>G (n.10912+3A>G)
c.8176+3A>G (n.8176+3A>G)
c.7069+3A>G (n.7069+3A>G)
c.11095+3A>G (n.11095+3A>G)
c.6847+3A>G (n.6847+3A>G)
c.10075+3A>G (n.10075+3A>G)
 gnomAD v4
8g.99861949A>TCA2688072223VPS13Bc.*384+3A>T (n.*384+3A>T)
n.11360+3A>T
c.*6972+3A>T (n.*6972+3A>T)
c.11215+3A>T (n.11215+3A>T)
c.11290+3A>T (n.11290+3A>T)
c.11287+3A>T (n.11287+3A>T)
c.11212+3A>T (n.11212+3A>T)
c.10912+3A>T (n.10912+3A>T)
c.8176+3A>T (n.8176+3A>T)
c.7069+3A>T (n.7069+3A>T)
c.11095+3A>T (n.11095+3A>T)
c.6847+3A>T (n.6847+3A>T)
c.10075+3A>T (n.10075+3A>T)
 dbSNP gnomAD v4
8g.99861950A>TCA2688072224VPS13Bc.*384+4A>T (n.*384+4A>T)
n.11360+4A>T
c.*6972+4A>T (n.*6972+4A>T)
c.11215+4A>T (n.11215+4A>T)
c.11290+4A>T (n.11290+4A>T)
c.11287+4A>T (n.11287+4A>T)
c.11212+4A>T (n.11212+4A>T)
c.10912+4A>T (n.10912+4A>T)
c.8176+4A>T (n.8176+4A>T)
c.7069+4A>T (n.7069+4A>T)
c.11095+4A>T (n.11095+4A>T)
c.6847+4A>T (n.6847+4A>T)
c.10075+4A>T (n.10075+4A>T)
 gnomAD v4

Number of alleles fetched