Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99868348_99868349delCA2688072712VPS13Bc.*444_*445del (n.*444_*445del)
n.11420_11421del
c.*7032_*7033del (n.*7032_*7033del)
c.11275_11276del (p.Gln3759GlyfsTer?)
c.11350_11351del (p.Gln3784GlyfsTer?)
n.292_293del
c.11347_11348del (p.Gln3783GlyfsTer?)
c.11272_11273del (p.Gln3758GlyfsTer?)
c.10972_10973del (p.Gln3658GlyfsTer?)
c.8236_8237del (p.Gln2746GlyfsTer?)
c.7129_7130del (p.Gln2377GlyfsTer?)
c.11155_11156del (p.Gln3719GlyfsTer?)
c.6907_6908del (p.Gln2303GlyfsTer?)
c.10135_10136del (p.Gln3379GlyfsTer?)
 gnomAD v4
8g.99868348C>ACA371791944VPS13Bc.*444C>A (n.*444C>A)
n.11420C>A
c.*7032C>A (n.*7032C>A)
c.11275C>A (p.Gln3759Lys)
c.11350C>A (p.Gln3784Lys)
n.292C>A
c.11347C>A (p.Gln3783Lys)
c.11272C>A (p.Gln3758Lys)
c.10972C>A (p.Gln3658Lys)
c.8236C>A (p.Gln2746Lys)
c.7129C>A (p.Gln2377Lys)
c.11155C>A (p.Gln3719Lys)
c.6907C>A (p.Gln2303Lys)
c.10135C>A (p.Gln3379Lys)
8g.99868348C>GCA208365VPS13Bc.*444C>G (n.*444C>G)
n.11420C>G
c.*7032C>G (n.*7032C>G)
c.11275C>G (p.Gln3759Glu)
c.11350C>G (p.Gln3784Glu)
n.292C>G
c.11347C>G (p.Gln3783Glu)
c.11272C>G (p.Gln3758Glu)
c.10972C>G (p.Gln3658Glu)
c.8236C>G (p.Gln2746Glu)
c.7129C>G (p.Gln2377Glu)
c.11155C>G (p.Gln3719Glu)
c.6907C>G (p.Gln2303Glu)
c.10135C>G (p.Gln3379Glu)
 ClinVar dbSNP gnomAD v4
8g.99868348C>TCA371791942VPS13Bc.*444C>T (n.*444C>T)
n.11420C>T
c.*7032C>T (n.*7032C>T)
c.11275C>T (p.Gln3759Ter)
c.11350C>T (p.Gln3784Ter)
n.292C>T
c.11347C>T (p.Gln3783Ter)
c.11272C>T (p.Gln3758Ter)
c.10972C>T (p.Gln3658Ter)
c.8236C>T (p.Gln2746Ter)
c.7129C>T (p.Gln2377Ter)
c.11155C>T (p.Gln3719Ter)
c.6907C>T (p.Gln2303Ter)
c.10135C>T (p.Gln3379Ter)
 ClinVar
8g.99868349A>CCA371791947VPS13Bc.*445A>C (n.*445A>C)
n.11421A>C
c.*7033A>C (n.*7033A>C)
c.11276A>C (p.Gln3759Pro)
c.11351A>C (p.Gln3784Pro)
n.293A>C
c.11348A>C (p.Gln3783Pro)
c.11273A>C (p.Gln3758Pro)
c.10973A>C (p.Gln3658Pro)
c.8237A>C (p.Gln2746Pro)
c.7130A>C (p.Gln2377Pro)
c.11156A>C (p.Gln3719Pro)
c.6908A>C (p.Gln2303Pro)
c.10136A>C (p.Gln3379Pro)
8g.99868349A>GCA371791948VPS13Bc.*445A>G (n.*445A>G)
n.11421A>G
c.*7033A>G (n.*7033A>G)
c.11276A>G (p.Gln3759Arg)
c.11351A>G (p.Gln3784Arg)
n.293A>G
c.11348A>G (p.Gln3783Arg)
c.11273A>G (p.Gln3758Arg)
c.10973A>G (p.Gln3658Arg)
c.8237A>G (p.Gln2746Arg)
c.7130A>G (p.Gln2377Arg)
c.11156A>G (p.Gln3719Arg)
c.6908A>G (p.Gln2303Arg)
c.10136A>G (p.Gln3379Arg)
8g.99868349A>TCA371791950VPS13Bc.*445A>T (n.*445A>T)
n.11421A>T
c.*7033A>T (n.*7033A>T)
c.11276A>T (p.Gln3759Leu)
c.11351A>T (p.Gln3784Leu)
n.293A>T
c.11348A>T (p.Gln3783Leu)
c.11273A>T (p.Gln3758Leu)
c.10973A>T (p.Gln3658Leu)
c.8237A>T (p.Gln2746Leu)
c.7130A>T (p.Gln2377Leu)
c.11156A>T (p.Gln3719Leu)
c.6908A>T (p.Gln2303Leu)
c.10136A>T (p.Gln3379Leu)
8g.99868350G>ACA462339214VPS13Bc.*446G>A (n.*446G>A)
n.11422G>A
c.*7034G>A (n.*7034G>A)
c.11277G>A (p.Gln3759=)
c.11352G>A (p.Gln3784=)
n.294G>A
c.11349G>A (p.Gln3783=)
c.11274G>A (p.Gln3758=)
c.10974G>A (p.Gln3658=)
c.8238G>A (p.Gln2746=)
c.7131G>A (p.Gln2377=)
c.11157G>A (p.Gln3719=)
c.6909G>A (p.Gln2303=)
c.10137G>A (p.Gln3379=)
8g.99868350G>CCA371791952VPS13Bc.*446G>C (n.*446G>C)
n.11422G>C
c.*7034G>C (n.*7034G>C)
c.11277G>C (p.Gln3759His)
c.11352G>C (p.Gln3784His)
n.294G>C
c.11349G>C (p.Gln3783His)
c.11274G>C (p.Gln3758His)
c.10974G>C (p.Gln3658His)
c.8238G>C (p.Gln2746His)
c.7131G>C (p.Gln2377His)
c.11157G>C (p.Gln3719His)
c.6909G>C (p.Gln2303His)
c.10137G>C (p.Gln3379His)
8g.99868350G>TCA371791954VPS13Bc.*446G>T (n.*446G>T)
n.11422G>T
c.*7034G>T (n.*7034G>T)
c.11277G>T (p.Gln3759His)
c.11352G>T (p.Gln3784His)
n.294G>T
c.11349G>T (p.Gln3783His)
c.11274G>T (p.Gln3758His)
c.10974G>T (p.Gln3658His)
c.8238G>T (p.Gln2746His)
c.7131G>T (p.Gln2377His)
c.11157G>T (p.Gln3719His)
c.6909G>T (p.Gln2303His)
c.10137G>T (p.Gln3379His)
 dbSNP
8g.99868351G>ACA371791955VPS13Bc.*447G>A (n.*447G>A)
n.11423G>A
c.*7035G>A (n.*7035G>A)
c.11278G>A (p.Ala3760Thr)
c.11353G>A (p.Ala3785Thr)
n.295G>A
c.11350G>A (p.Ala3784Thr)
c.11275G>A (p.Ala3759Thr)
c.10975G>A (p.Ala3659Thr)
c.8239G>A (p.Ala2747Thr)
c.7132G>A (p.Ala2378Thr)
c.11158G>A (p.Ala3720Thr)
c.6910G>A (p.Ala2304Thr)
c.10138G>A (p.Ala3380Thr)
8g.99868351G>CCA371791957VPS13Bc.*447G>C (n.*447G>C)
n.11423G>C
c.*7035G>C (n.*7035G>C)
c.11278G>C (p.Ala3760Pro)
c.11353G>C (p.Ala3785Pro)
n.295G>C
c.11350G>C (p.Ala3784Pro)
c.11275G>C (p.Ala3759Pro)
c.10975G>C (p.Ala3659Pro)
c.8239G>C (p.Ala2747Pro)
c.7132G>C (p.Ala2378Pro)
c.11158G>C (p.Ala3720Pro)
c.6910G>C (p.Ala2304Pro)
c.10138G>C (p.Ala3380Pro)
8g.99868351G>TCA371791958VPS13Bc.*447G>T (n.*447G>T)
n.11423G>T
c.*7035G>T (n.*7035G>T)
c.11278G>T (p.Ala3760Ser)
c.11353G>T (p.Ala3785Ser)
n.295G>T
c.11350G>T (p.Ala3784Ser)
c.11275G>T (p.Ala3759Ser)
c.10975G>T (p.Ala3659Ser)
c.8239G>T (p.Ala2747Ser)
c.7132G>T (p.Ala2378Ser)
c.11158G>T (p.Ala3720Ser)
c.6910G>T (p.Ala2304Ser)
c.10138G>T (p.Ala3380Ser)
8g.99868352C>ACA371791961VPS13Bc.*448C>A (n.*448C>A)
n.11424C>A
c.*7036C>A (n.*7036C>A)
c.11279C>A (p.Ala3760Asp)
c.11354C>A (p.Ala3785Asp)
n.296C>A
c.11351C>A (p.Ala3784Asp)
c.11276C>A (p.Ala3759Asp)
c.10976C>A (p.Ala3659Asp)
c.8240C>A (p.Ala2747Asp)
c.7133C>A (p.Ala2378Asp)
c.11159C>A (p.Ala3720Asp)
c.6911C>A (p.Ala2304Asp)
c.10139C>A (p.Ala3380Asp)
8g.99868352C>GCA371791963VPS13Bc.*448C>G (n.*448C>G)
n.11424C>G
c.*7036C>G (n.*7036C>G)
c.11279C>G (p.Ala3760Gly)
c.11354C>G (p.Ala3785Gly)
n.296C>G
c.11351C>G (p.Ala3784Gly)
c.11276C>G (p.Ala3759Gly)
c.10976C>G (p.Ala3659Gly)
c.8240C>G (p.Ala2747Gly)
c.7133C>G (p.Ala2378Gly)
c.11159C>G (p.Ala3720Gly)
c.6911C>G (p.Ala2304Gly)
c.10139C>G (p.Ala3380Gly)
8g.99868352C>TCA371791964VPS13Bc.*448C>T (n.*448C>T)
n.11424C>T
c.*7036C>T (n.*7036C>T)
c.11279C>T (p.Ala3760Val)
c.11354C>T (p.Ala3785Val)
n.296C>T
c.11351C>T (p.Ala3784Val)
c.11276C>T (p.Ala3759Val)
c.10976C>T (p.Ala3659Val)
c.8240C>T (p.Ala2747Val)
c.7133C>T (p.Ala2378Val)
c.11159C>T (p.Ala3720Val)
c.6911C>T (p.Ala2304Val)
c.10139C>T (p.Ala3380Val)
 gnomAD v4
8g.99868353T>ACA462339220VPS13Bc.*449T>A (n.*449T>A)
n.11425T>A
c.*7037T>A (n.*7037T>A)
c.11280T>A (p.Ala3760=)
c.11355T>A (p.Ala3785=)
n.297T>A
c.11352T>A (p.Ala3784=)
c.11277T>A (p.Ala3759=)
c.10977T>A (p.Ala3659=)
c.8241T>A (p.Ala2747=)
c.7134T>A (p.Ala2378=)
c.11160T>A (p.Ala3720=)
c.6912T>A (p.Ala2304=)
c.10140T>A (p.Ala3380=)
8g.99868353T>CCA462339222VPS13Bc.*449T>C (n.*449T>C)
n.11425T>C
c.*7037T>C (n.*7037T>C)
c.11280T>C (p.Ala3760=)
c.11355T>C (p.Ala3785=)
n.297T>C
c.11352T>C (p.Ala3784=)
c.11277T>C (p.Ala3759=)
c.10977T>C (p.Ala3659=)
c.8241T>C (p.Ala2747=)
c.7134T>C (p.Ala2378=)
c.11160T>C (p.Ala3720=)
c.6912T>C (p.Ala2304=)
c.10140T>C (p.Ala3380=)
8g.99868353T>GCA462339221VPS13Bc.*449T>G (n.*449T>G)
n.11425T>G
c.*7037T>G (n.*7037T>G)
c.11280T>G (p.Ala3760=)
c.11355T>G (p.Ala3785=)
n.297T>G
c.11352T>G (p.Ala3784=)
c.11277T>G (p.Ala3759=)
c.10977T>G (p.Ala3659=)
c.8241T>G (p.Ala2747=)
c.7134T>G (p.Ala2378=)
c.11160T>G (p.Ala3720=)
c.6912T>G (p.Ala2304=)
c.10140T>G (p.Ala3380=)
8g.99868354T>ACA371791968VPS13Bc.*450T>A (n.*450T>A)
n.11426T>A
c.*7038T>A (n.*7038T>A)
c.11281T>A (p.Ser3761Thr)
c.11356T>A (p.Ser3786Thr)
n.298T>A
c.11353T>A (p.Ser3785Thr)
c.11278T>A (p.Ser3760Thr)
c.10978T>A (p.Ser3660Thr)
c.8242T>A (p.Ser2748Thr)
c.7135T>A (p.Ser2379Thr)
c.11161T>A (p.Ser3721Thr)
c.6913T>A (p.Ser2305Thr)
c.10141T>A (p.Ser3381Thr)
8g.99868354T>CCA371791969VPS13Bc.*450T>C (n.*450T>C)
n.11426T>C
c.*7038T>C (n.*7038T>C)
c.11281T>C (p.Ser3761Pro)
c.11356T>C (p.Ser3786Pro)
n.298T>C
c.11353T>C (p.Ser3785Pro)
c.11278T>C (p.Ser3760Pro)
c.10978T>C (p.Ser3660Pro)
c.8242T>C (p.Ser2748Pro)
c.7135T>C (p.Ser2379Pro)
c.11161T>C (p.Ser3721Pro)
c.6913T>C (p.Ser2305Pro)
c.10141T>C (p.Ser3381Pro)
8g.99868354T>GCA371791970VPS13Bc.*450T>G (n.*450T>G)
n.11426T>G
c.*7038T>G (n.*7038T>G)
c.11281T>G (p.Ser3761Ala)
c.11356T>G (p.Ser3786Ala)
n.298T>G
c.11353T>G (p.Ser3785Ala)
c.11278T>G (p.Ser3760Ala)
c.10978T>G (p.Ser3660Ala)
c.8242T>G (p.Ser2748Ala)
c.7135T>G (p.Ser2379Ala)
c.11161T>G (p.Ser3721Ala)
c.6913T>G (p.Ser2305Ala)
c.10141T>G (p.Ser3381Ala)
8g.99868355C>ACA371791975VPS13Bc.*451C>A (n.*451C>A)
n.11427C>A
c.*7039C>A (n.*7039C>A)
c.11282C>A (p.Ser3761Ter)
c.11357C>A (p.Ser3786Ter)
n.299C>A
c.11354C>A (p.Ser3785Ter)
c.11279C>A (p.Ser3760Ter)
c.10979C>A (p.Ser3660Ter)
c.8243C>A (p.Ser2748Ter)
c.7136C>A (p.Ser2379Ter)
c.11162C>A (p.Ser3721Ter)
c.6914C>A (p.Ser2305Ter)
c.10142C>A (p.Ser3381Ter)
8g.99868355C>GCA371791977VPS13Bc.*451C>G (n.*451C>G)
n.11427C>G
c.*7039C>G (n.*7039C>G)
c.11282C>G (p.Ser3761Ter)
c.11357C>G (p.Ser3786Ter)
n.299C>G
c.11354C>G (p.Ser3785Ter)
c.11279C>G (p.Ser3760Ter)
c.10979C>G (p.Ser3660Ter)
c.8243C>G (p.Ser2748Ter)
c.7136C>G (p.Ser2379Ter)
c.11162C>G (p.Ser3721Ter)
c.6914C>G (p.Ser2305Ter)
c.10142C>G (p.Ser3381Ter)
8g.99868355C>TCA371791973VPS13Bc.*451C>T (n.*451C>T)
n.11427C>T
c.*7039C>T (n.*7039C>T)
c.11282C>T (p.Ser3761Leu)
c.11357C>T (p.Ser3786Leu)
n.299C>T
c.11354C>T (p.Ser3785Leu)
c.11279C>T (p.Ser3760Leu)
c.10979C>T (p.Ser3660Leu)
c.8243C>T (p.Ser2748Leu)
c.7136C>T (p.Ser2379Leu)
c.11162C>T (p.Ser3721Leu)
c.6914C>T (p.Ser2305Leu)
c.10142C>T (p.Ser3381Leu)
8g.99868356A>CCA462339225VPS13Bc.*452A>C (n.*452A>C)
n.11428A>C
c.*7040A>C (n.*7040A>C)
c.11283A>C (p.Ser3761=)
c.11358A>C (p.Ser3786=)
n.300A>C
c.11355A>C (p.Ser3785=)
c.11280A>C (p.Ser3760=)
c.10980A>C (p.Ser3660=)
c.8244A>C (p.Ser2748=)
c.7137A>C (p.Ser2379=)
c.11163A>C (p.Ser3721=)
c.6915A>C (p.Ser2305=)
c.10143A>C (p.Ser3381=)
 ClinVar dbSNP gnomAD v4
8g.99868356A>GCA462339227VPS13Bc.*452A>G (n.*452A>G)
n.11428A>G
c.*7040A>G (n.*7040A>G)
c.11283A>G (p.Ser3761=)
c.11358A>G (p.Ser3786=)
n.300A>G
c.11355A>G (p.Ser3785=)
c.11280A>G (p.Ser3760=)
c.10980A>G (p.Ser3660=)
c.8244A>G (p.Ser2748=)
c.7137A>G (p.Ser2379=)
c.11163A>G (p.Ser3721=)
c.6915A>G (p.Ser2305=)
c.10143A>G (p.Ser3381=)
 dbSNP gnomAD v4
8g.99868356A>TCA462339228VPS13Bc.*452A>T (n.*452A>T)
n.11428A>T
c.*7040A>T (n.*7040A>T)
c.11283A>T (p.Ser3761=)
c.11358A>T (p.Ser3786=)
n.300A>T
c.11355A>T (p.Ser3785=)
c.11280A>T (p.Ser3760=)
c.10980A>T (p.Ser3660=)
c.8244A>T (p.Ser2748=)
c.7137A>T (p.Ser2379=)
c.11163A>T (p.Ser3721=)
c.6915A>T (p.Ser2305=)
c.10143A>T (p.Ser3381=)
8g.99868357G>ACA371791979VPS13Bc.*453G>A (n.*453G>A)
n.11429G>A
c.*7041G>A (n.*7041G>A)
c.11284G>A (p.Ala3762Thr)
c.11359G>A (p.Ala3787Thr)
n.301G>A
c.11356G>A (p.Ala3786Thr)
c.11281G>A (p.Ala3761Thr)
c.10981G>A (p.Ala3661Thr)
c.8245G>A (p.Ala2749Thr)
c.7138G>A (p.Ala2380Thr)
c.11164G>A (p.Ala3722Thr)
c.6916G>A (p.Ala2306Thr)
c.10144G>A (p.Ala3382Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99868357G>CCA371791980VPS13Bc.*453G>C (n.*453G>C)
n.11429G>C
c.*7041G>C (n.*7041G>C)
c.11284G>C (p.Ala3762Pro)
c.11359G>C (p.Ala3787Pro)
n.301G>C
c.11356G>C (p.Ala3786Pro)
c.11281G>C (p.Ala3761Pro)
c.10981G>C (p.Ala3661Pro)
c.8245G>C (p.Ala2749Pro)
c.7138G>C (p.Ala2380Pro)
c.11164G>C (p.Ala3722Pro)
c.6916G>C (p.Ala2306Pro)
c.10144G>C (p.Ala3382Pro)
8g.99868357G>TCA371791982VPS13Bc.*453G>T (n.*453G>T)
n.11429G>T
c.*7041G>T (n.*7041G>T)
c.11284G>T (p.Ala3762Ser)
c.11359G>T (p.Ala3787Ser)
n.301G>T
c.11356G>T (p.Ala3786Ser)
c.11281G>T (p.Ala3761Ser)
c.10981G>T (p.Ala3661Ser)
c.8245G>T (p.Ala2749Ser)
c.7138G>T (p.Ala2380Ser)
c.11164G>T (p.Ala3722Ser)
c.6916G>T (p.Ala2306Ser)
c.10144G>T (p.Ala3382Ser)
8g.99868358C>ACA371791984VPS13Bc.*454C>A (n.*454C>A)
n.11430C>A
c.*7042C>A (n.*7042C>A)
c.11285C>A (p.Ala3762Glu)
c.11360C>A (p.Ala3787Glu)
n.302C>A
c.11357C>A (p.Ala3786Glu)
c.11282C>A (p.Ala3761Glu)
c.10982C>A (p.Ala3661Glu)
c.8246C>A (p.Ala2749Glu)
c.7139C>A (p.Ala2380Glu)
c.11165C>A (p.Ala3722Glu)
c.6917C>A (p.Ala2306Glu)
c.10145C>A (p.Ala3382Glu)
8g.99868358C>GCA371791986VPS13Bc.*454C>G (n.*454C>G)
n.11430C>G
c.*7042C>G (n.*7042C>G)
c.11285C>G (p.Ala3762Gly)
c.11360C>G (p.Ala3787Gly)
n.302C>G
c.11357C>G (p.Ala3786Gly)
c.11282C>G (p.Ala3761Gly)
c.10982C>G (p.Ala3661Gly)
c.8246C>G (p.Ala2749Gly)
c.7139C>G (p.Ala2380Gly)
c.11165C>G (p.Ala3722Gly)
c.6917C>G (p.Ala2306Gly)
c.10145C>G (p.Ala3382Gly)
8g.99868358C>TCA4825202VPS13Bc.*454C>T (n.*454C>T)
n.11430C>T
c.*7042C>T (n.*7042C>T)
c.11285C>T (p.Ala3762Val)
c.11360C>T (p.Ala3787Val)
n.302C>T
c.11357C>T (p.Ala3786Val)
c.11282C>T (p.Ala3761Val)
c.10982C>T (p.Ala3661Val)
c.8246C>T (p.Ala2749Val)
c.7139C>T (p.Ala2380Val)
c.11165C>T (p.Ala3722Val)
c.6917C>T (p.Ala2306Val)
c.10145C>T (p.Ala3382Val)
 ClinVar dbSNP ExAC gnomAD v2
8g.99868359A>CCA462339233VPS13Bc.*455A>C (n.*455A>C)
n.11431A>C
c.*7043A>C (n.*7043A>C)
c.11286A>C (p.Ala3762=)
c.11361A>C (p.Ala3787=)
n.303A>C
c.11358A>C (p.Ala3786=)
c.11283A>C (p.Ala3761=)
c.10983A>C (p.Ala3661=)
c.8247A>C (p.Ala2749=)
c.7140A>C (p.Ala2380=)
c.11166A>C (p.Ala3722=)
c.6918A>C (p.Ala2306=)
c.10146A>C (p.Ala3382=)
8g.99868359A>GCA4825203VPS13Bc.*455A>G (n.*455A>G)
n.11431A>G
c.*7043A>G (n.*7043A>G)
c.11286A>G (p.Ala3762=)
c.11361A>G (p.Ala3787=)
n.303A>G
c.11358A>G (p.Ala3786=)
c.11283A>G (p.Ala3761=)
c.10983A>G (p.Ala3661=)
c.8247A>G (p.Ala2749=)
c.7140A>G (p.Ala2380=)
c.11166A>G (p.Ala3722=)
c.6918A>G (p.Ala2306=)
c.10146A>G (p.Ala3382=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868359A>TCA462339234VPS13Bc.*455A>T (n.*455A>T)
n.11431A>T
c.*7043A>T (n.*7043A>T)
c.11286A>T (p.Ala3762=)
c.11361A>T (p.Ala3787=)
n.303A>T
c.11358A>T (p.Ala3786=)
c.11283A>T (p.Ala3761=)
c.10983A>T (p.Ala3661=)
c.8247A>T (p.Ala2749=)
c.7140A>T (p.Ala2380=)
c.11166A>T (p.Ala3722=)
c.6918A>T (p.Ala2306=)
c.10146A>T (p.Ala3382=)
8g.99868360G>ACA371791989VPS13Bc.*456G>A (n.*456G>A)
n.11432G>A
c.*7044G>A (n.*7044G>A)
c.11287G>A (p.Gly3763Arg)
c.11362G>A (p.Gly3788Arg)
n.304G>A
c.11359G>A (p.Gly3787Arg)
c.11284G>A (p.Gly3762Arg)
c.10984G>A (p.Gly3662Arg)
c.8248G>A (p.Gly2750Arg)
c.7141G>A (p.Gly2381Arg)
c.11167G>A (p.Gly3723Arg)
c.6919G>A (p.Gly2307Arg)
c.10147G>A (p.Gly3383Arg)
8g.99868360G>CCA371791991VPS13Bc.*456G>C (n.*456G>C)
n.11432G>C
c.*7044G>C (n.*7044G>C)
c.11287G>C (p.Gly3763Arg)
c.11362G>C (p.Gly3788Arg)
n.304G>C
c.11359G>C (p.Gly3787Arg)
c.11284G>C (p.Gly3762Arg)
c.10984G>C (p.Gly3662Arg)
c.8248G>C (p.Gly2750Arg)
c.7141G>C (p.Gly2381Arg)
c.11167G>C (p.Gly3723Arg)
c.6919G>C (p.Gly2307Arg)
c.10147G>C (p.Gly3383Arg)
 gnomAD v4
8g.99868360G>TCA371791993VPS13Bc.*456G>T (n.*456G>T)
n.11432G>T
c.*7044G>T (n.*7044G>T)
c.11287G>T (p.Gly3763Ter)
c.11362G>T (p.Gly3788Ter)
n.304G>T
c.11359G>T (p.Gly3787Ter)
c.11284G>T (p.Gly3762Ter)
c.10984G>T (p.Gly3662Ter)
c.8248G>T (p.Gly2750Ter)
c.7141G>T (p.Gly2381Ter)
c.11167G>T (p.Gly3723Ter)
c.6919G>T (p.Gly2307Ter)
c.10147G>T (p.Gly3383Ter)
8g.99868361G>ACA371791995VPS13Bc.*457G>A (n.*457G>A)
n.11433G>A
c.*7045G>A (n.*7045G>A)
c.11288G>A (p.Gly3763Glu)
c.11363G>A (p.Gly3788Glu)
n.305G>A
c.11360G>A (p.Gly3787Glu)
c.11285G>A (p.Gly3762Glu)
c.10985G>A (p.Gly3662Glu)
c.8249G>A (p.Gly2750Glu)
c.7142G>A (p.Gly2381Glu)
c.11168G>A (p.Gly3723Glu)
c.6920G>A (p.Gly2307Glu)
c.10148G>A (p.Gly3383Glu)
8g.99868361G>CCA371791997VPS13Bc.*457G>C (n.*457G>C)
n.11433G>C
c.*7045G>C (n.*7045G>C)
c.11288G>C (p.Gly3763Ala)
c.11363G>C (p.Gly3788Ala)
n.305G>C
c.11360G>C (p.Gly3787Ala)
c.11285G>C (p.Gly3762Ala)
c.10985G>C (p.Gly3662Ala)
c.8249G>C (p.Gly2750Ala)
c.7142G>C (p.Gly2381Ala)
c.11168G>C (p.Gly3723Ala)
c.6920G>C (p.Gly2307Ala)
c.10148G>C (p.Gly3383Ala)
8g.99868361G>TCA371791999VPS13Bc.*457G>T (n.*457G>T)
n.11433G>T
c.*7045G>T (n.*7045G>T)
c.11288G>T (p.Gly3763Val)
c.11363G>T (p.Gly3788Val)
n.305G>T
c.11360G>T (p.Gly3787Val)
c.11285G>T (p.Gly3762Val)
c.10985G>T (p.Gly3662Val)
c.8249G>T (p.Gly2750Val)
c.7142G>T (p.Gly2381Val)
c.11168G>T (p.Gly3723Val)
c.6920G>T (p.Gly2307Val)
c.10148G>T (p.Gly3383Val)
8g.99868362A>CCA462339240VPS13Bc.*458A>C (n.*458A>C)
n.11434A>C
c.*7046A>C (n.*7046A>C)
c.11289A>C (p.Gly3763=)
c.11364A>C (p.Gly3788=)
n.306A>C
c.11361A>C (p.Gly3787=)
c.11286A>C (p.Gly3762=)
c.10986A>C (p.Gly3662=)
c.8250A>C (p.Gly2750=)
c.7143A>C (p.Gly2381=)
c.11169A>C (p.Gly3723=)
c.6921A>C (p.Gly2307=)
c.10149A>C (p.Gly3383=)
8g.99868362A>GCA462339241VPS13Bc.*458A>G (n.*458A>G)
n.11434A>G
c.*7046A>G (n.*7046A>G)
c.11289A>G (p.Gly3763=)
c.11364A>G (p.Gly3788=)
n.306A>G
c.11361A>G (p.Gly3787=)
c.11286A>G (p.Gly3762=)
c.10986A>G (p.Gly3662=)
c.8250A>G (p.Gly2750=)
c.7143A>G (p.Gly2381=)
c.11169A>G (p.Gly3723=)
c.6921A>G (p.Gly2307=)
c.10149A>G (p.Gly3383=)
8g.99868362A>TCA462339243VPS13Bc.*458A>T (n.*458A>T)
n.11434A>T
c.*7046A>T (n.*7046A>T)
c.11289A>T (p.Gly3763=)
c.11364A>T (p.Gly3788=)
n.306A>T
c.11361A>T (p.Gly3787=)
c.11286A>T (p.Gly3762=)
c.10986A>T (p.Gly3662=)
c.8250A>T (p.Gly2750=)
c.7143A>T (p.Gly2381=)
c.11169A>T (p.Gly3723=)
c.6921A>T (p.Gly2307=)
c.10149A>T (p.Gly3383=)
8g.99868363C>ACA371792001VPS13Bc.*459C>A (n.*459C>A)
n.11435C>A
c.*7047C>A (n.*7047C>A)
c.11290C>A (p.His3764Asn)
c.11365C>A (p.His3789Asn)
n.307C>A
c.11362C>A (p.His3788Asn)
c.11287C>A (p.His3763Asn)
c.10987C>A (p.His3663Asn)
c.8251C>A (p.His2751Asn)
c.7144C>A (p.His2382Asn)
c.11170C>A (p.His3724Asn)
c.6922C>A (p.His2308Asn)
c.10150C>A (p.His3384Asn)
8g.99868363C>GCA371792005VPS13Bc.*459C>G (n.*459C>G)
n.11435C>G
c.*7047C>G (n.*7047C>G)
c.11290C>G (p.His3764Asp)
c.11365C>G (p.His3789Asp)
n.307C>G
c.11362C>G (p.His3788Asp)
c.11287C>G (p.His3763Asp)
c.10987C>G (p.His3663Asp)
c.8251C>G (p.His2751Asp)
c.7144C>G (p.His2382Asp)
c.11170C>G (p.His3724Asp)
c.6922C>G (p.His2308Asp)
c.10150C>G (p.His3384Asp)
8g.99868363C>TCA371792003VPS13Bc.*459C>T (n.*459C>T)
n.11435C>T
c.*7047C>T (n.*7047C>T)
c.11290C>T (p.His3764Tyr)
c.11365C>T (p.His3789Tyr)
n.307C>T
c.11362C>T (p.His3788Tyr)
c.11287C>T (p.His3763Tyr)
c.10987C>T (p.His3663Tyr)
c.8251C>T (p.His2751Tyr)
c.7144C>T (p.His2382Tyr)
c.11170C>T (p.His3724Tyr)
c.6922C>T (p.His2308Tyr)
c.10150C>T (p.His3384Tyr)
8g.99868364A>CCA371792007VPS13Bc.*460A>C (n.*460A>C)
n.11436A>C
c.*7048A>C (n.*7048A>C)
c.11291A>C (p.His3764Pro)
c.11366A>C (p.His3789Pro)
n.308A>C
c.11363A>C (p.His3788Pro)
c.11288A>C (p.His3763Pro)
c.10988A>C (p.His3663Pro)
c.8252A>C (p.His2751Pro)
c.7145A>C (p.His2382Pro)
c.11171A>C (p.His3724Pro)
c.6923A>C (p.His2308Pro)
c.10151A>C (p.His3384Pro)
8g.99868364A>GCA371792009VPS13Bc.*460A>G (n.*460A>G)
n.11436A>G
c.*7048A>G (n.*7048A>G)
c.11291A>G (p.His3764Arg)
c.11366A>G (p.His3789Arg)
n.308A>G
c.11363A>G (p.His3788Arg)
c.11288A>G (p.His3763Arg)
c.10988A>G (p.His3663Arg)
c.8252A>G (p.His2751Arg)
c.7145A>G (p.His2382Arg)
c.11171A>G (p.His3724Arg)
c.6923A>G (p.His2308Arg)
c.10151A>G (p.His3384Arg)
8g.99868364A>TCA371792011VPS13Bc.*460A>T (n.*460A>T)
n.11436A>T
c.*7048A>T (n.*7048A>T)
c.11291A>T (p.His3764Leu)
c.11366A>T (p.His3789Leu)
n.308A>T
c.11363A>T (p.His3788Leu)
c.11288A>T (p.His3763Leu)
c.10988A>T (p.His3663Leu)
c.8252A>T (p.His2751Leu)
c.7145A>T (p.His2382Leu)
c.11171A>T (p.His3724Leu)
c.6923A>T (p.His2308Leu)
c.10151A>T (p.His3384Leu)
8g.99868365C>ACA371792013VPS13Bc.*461C>A (n.*461C>A)
n.11437C>A
c.*7049C>A (n.*7049C>A)
c.11292C>A (p.His3764Gln)
c.11367C>A (p.His3789Gln)
n.309C>A
c.11364C>A (p.His3788Gln)
c.11289C>A (p.His3763Gln)
c.10989C>A (p.His3663Gln)
c.8253C>A (p.His2751Gln)
c.7146C>A (p.His2382Gln)
c.11172C>A (p.His3724Gln)
c.6924C>A (p.His2308Gln)
c.10152C>A (p.His3384Gln)
8g.99868365C>GCA371792014VPS13Bc.*461C>G (n.*461C>G)
n.11437C>G
c.*7049C>G (n.*7049C>G)
c.11292C>G (p.His3764Gln)
c.11367C>G (p.His3789Gln)
n.309C>G
c.11364C>G (p.His3788Gln)
c.11289C>G (p.His3763Gln)
c.10989C>G (p.His3663Gln)
c.8253C>G (p.His2751Gln)
c.7146C>G (p.His2382Gln)
c.11172C>G (p.His3724Gln)
c.6924C>G (p.His2308Gln)
c.10152C>G (p.His3384Gln)
8g.99868365C>TCA462339251VPS13Bc.*461C>T (n.*461C>T)
n.11437C>T
c.*7049C>T (n.*7049C>T)
c.11292C>T (p.His3764=)
c.11367C>T (p.His3789=)
n.309C>T
c.11364C>T (p.His3788=)
c.11289C>T (p.His3763=)
c.10989C>T (p.His3663=)
c.8253C>T (p.His2751=)
c.7146C>T (p.His2382=)
c.11172C>T (p.His3724=)
c.6924C>T (p.His2308=)
c.10152C>T (p.His3384=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99868366A>CCA371792015VPS13Bc.*462A>C (n.*462A>C)
n.11438A>C
c.*7050A>C (n.*7050A>C)
c.11293A>C (p.Lys3765Gln)
c.11368A>C (p.Lys3790Gln)
n.310A>C
c.11365A>C (p.Lys3789Gln)
c.11290A>C (p.Lys3764Gln)
c.10990A>C (p.Lys3664Gln)
c.8254A>C (p.Lys2752Gln)
c.7147A>C (p.Lys2383Gln)
c.11173A>C (p.Lys3725Gln)
c.6925A>C (p.Lys2309Gln)
c.10153A>C (p.Lys3385Gln)
8g.99868366A>GCA371792017VPS13Bc.*462A>G (n.*462A>G)
n.11438A>G
c.*7050A>G (n.*7050A>G)
c.11293A>G (p.Lys3765Glu)
c.11368A>G (p.Lys3790Glu)
n.310A>G
c.11365A>G (p.Lys3789Glu)
c.11290A>G (p.Lys3764Glu)
c.10990A>G (p.Lys3664Glu)
c.8254A>G (p.Lys2752Glu)
c.7147A>G (p.Lys2383Glu)
c.11173A>G (p.Lys3725Glu)
c.6925A>G (p.Lys2309Glu)
c.10153A>G (p.Lys3385Glu)
8g.99868366A>TCA371792019VPS13Bc.*462A>T (n.*462A>T)
n.11438A>T
c.*7050A>T (n.*7050A>T)
c.11293A>T (p.Lys3765Ter)
c.11368A>T (p.Lys3790Ter)
n.310A>T
c.11365A>T (p.Lys3789Ter)
c.11290A>T (p.Lys3764Ter)
c.10990A>T (p.Lys3664Ter)
c.8254A>T (p.Lys2752Ter)
c.7147A>T (p.Lys2383Ter)
c.11173A>T (p.Lys3725Ter)
c.6925A>T (p.Lys2309Ter)
c.10153A>T (p.Lys3385Ter)
8g.99868367A>CCA371792021VPS13Bc.*463A>C (n.*463A>C)
n.11439A>C
c.*7051A>C (n.*7051A>C)
c.11294A>C (p.Lys3765Thr)
c.11369A>C (p.Lys3790Thr)
n.311A>C
c.11366A>C (p.Lys3789Thr)
c.11291A>C (p.Lys3764Thr)
c.10991A>C (p.Lys3664Thr)
c.8255A>C (p.Lys2752Thr)
c.7148A>C (p.Lys2383Thr)
c.11174A>C (p.Lys3725Thr)
c.6926A>C (p.Lys2309Thr)
c.10154A>C (p.Lys3385Thr)
8g.99868367A>GCA371792023VPS13Bc.*463A>G (n.*463A>G)
n.11439A>G
c.*7051A>G (n.*7051A>G)
c.11294A>G (p.Lys3765Arg)
c.11369A>G (p.Lys3790Arg)
n.311A>G
c.11366A>G (p.Lys3789Arg)
c.11291A>G (p.Lys3764Arg)
c.10991A>G (p.Lys3664Arg)
c.8255A>G (p.Lys2752Arg)
c.7148A>G (p.Lys2383Arg)
c.11174A>G (p.Lys3725Arg)
c.6926A>G (p.Lys2309Arg)
c.10154A>G (p.Lys3385Arg)
8g.99868367A>TCA371792024VPS13Bc.*463A>T (n.*463A>T)
n.11439A>T
c.*7051A>T (n.*7051A>T)
c.11294A>T (p.Lys3765Met)
c.11369A>T (p.Lys3790Met)
n.311A>T
c.11366A>T (p.Lys3789Met)
c.11291A>T (p.Lys3764Met)
c.10991A>T (p.Lys3664Met)
c.8255A>T (p.Lys2752Met)
c.7148A>T (p.Lys2383Met)
c.11174A>T (p.Lys3725Met)
c.6926A>T (p.Lys2309Met)
c.10154A>T (p.Lys3385Met)
8g.99868368G>ACA462339256VPS13Bc.*464G>A (n.*464G>A)
n.11440G>A
c.*7052G>A (n.*7052G>A)
c.11295G>A (p.Lys3765=)
c.11370G>A (p.Lys3790=)
n.312G>A
c.11367G>A (p.Lys3789=)
c.11292G>A (p.Lys3764=)
c.10992G>A (p.Lys3664=)
c.8256G>A (p.Lys2752=)
c.7149G>A (p.Lys2383=)
c.11175G>A (p.Lys3725=)
c.6927G>A (p.Lys2309=)
c.10155G>A (p.Lys3385=)
 gnomAD v4
8g.99868368G>CCA371792027VPS13Bc.*464G>C (n.*464G>C)
n.11440G>C
c.*7052G>C (n.*7052G>C)
c.11295G>C (p.Lys3765Asn)
c.11370G>C (p.Lys3790Asn)
n.312G>C
c.11367G>C (p.Lys3789Asn)
c.11292G>C (p.Lys3764Asn)
c.10992G>C (p.Lys3664Asn)
c.8256G>C (p.Lys2752Asn)
c.7149G>C (p.Lys2383Asn)
c.11175G>C (p.Lys3725Asn)
c.6927G>C (p.Lys2309Asn)
c.10155G>C (p.Lys3385Asn)
8g.99868368G>TCA371792026VPS13Bc.*464G>T (n.*464G>T)
n.11440G>T
c.*7052G>T (n.*7052G>T)
c.11295G>T (p.Lys3765Asn)
c.11370G>T (p.Lys3790Asn)
n.312G>T
c.11367G>T (p.Lys3789Asn)
c.11292G>T (p.Lys3764Asn)
c.10992G>T (p.Lys3664Asn)
c.8256G>T (p.Lys2752Asn)
c.7149G>T (p.Lys2383Asn)
c.11175G>T (p.Lys3725Asn)
c.6927G>T (p.Lys2309Asn)
c.10155G>T (p.Lys3385Asn)
8g.99868369G>ACA371792030VPS13Bc.*465G>A (n.*465G>A)
n.11441G>A
c.*7053G>A (n.*7053G>A)
c.11296G>A (p.Ala3766Thr)
c.11371G>A (p.Ala3791Thr)
n.313G>A
c.11368G>A (p.Ala3790Thr)
c.11293G>A (p.Ala3765Thr)
c.10993G>A (p.Ala3665Thr)
c.8257G>A (p.Ala2753Thr)
c.7150G>A (p.Ala2384Thr)
c.11176G>A (p.Ala3726Thr)
c.6928G>A (p.Ala2310Thr)
c.10156G>A (p.Ala3386Thr)
8g.99868369G>CCA371792033VPS13Bc.*465G>C (n.*465G>C)
n.11441G>C
c.*7053G>C (n.*7053G>C)
c.11296G>C (p.Ala3766Pro)
c.11371G>C (p.Ala3791Pro)
n.313G>C
c.11368G>C (p.Ala3790Pro)
c.11293G>C (p.Ala3765Pro)
c.10993G>C (p.Ala3665Pro)
c.8257G>C (p.Ala2753Pro)
c.7150G>C (p.Ala2384Pro)
c.11176G>C (p.Ala3726Pro)
c.6928G>C (p.Ala2310Pro)
c.10156G>C (p.Ala3386Pro)
8g.99868369G>TCA371792031VPS13Bc.*465G>T (n.*465G>T)
n.11441G>T
c.*7053G>T (n.*7053G>T)
c.11296G>T (p.Ala3766Ser)
c.11371G>T (p.Ala3791Ser)
n.313G>T
c.11368G>T (p.Ala3790Ser)
c.11293G>T (p.Ala3765Ser)
c.10993G>T (p.Ala3665Ser)
c.8257G>T (p.Ala2753Ser)
c.7150G>T (p.Ala2384Ser)
c.11176G>T (p.Ala3726Ser)
c.6928G>T (p.Ala2310Ser)
c.10156G>T (p.Ala3386Ser)
 gnomAD v4
8g.99868370C>ACA371792035VPS13Bc.*466C>A (n.*466C>A)
n.11442C>A
c.*7054C>A (n.*7054C>A)
c.11297C>A (p.Ala3766Asp)
c.11372C>A (p.Ala3791Asp)
n.314C>A
c.11369C>A (p.Ala3790Asp)
c.11294C>A (p.Ala3765Asp)
c.10994C>A (p.Ala3665Asp)
c.8258C>A (p.Ala2753Asp)
c.7151C>A (p.Ala2384Asp)
c.11177C>A (p.Ala3726Asp)
c.6929C>A (p.Ala2310Asp)
c.10157C>A (p.Ala3386Asp)
8g.99868370C>GCA371792037VPS13Bc.*466C>G (n.*466C>G)
n.11442C>G
c.*7054C>G (n.*7054C>G)
c.11297C>G (p.Ala3766Gly)
c.11372C>G (p.Ala3791Gly)
n.314C>G
c.11369C>G (p.Ala3790Gly)
c.11294C>G (p.Ala3765Gly)
c.10994C>G (p.Ala3665Gly)
c.8258C>G (p.Ala2753Gly)
c.7151C>G (p.Ala2384Gly)
c.11177C>G (p.Ala3726Gly)
c.6929C>G (p.Ala2310Gly)
c.10157C>G (p.Ala3386Gly)
8g.99868370C>TCA371792039VPS13Bc.*466C>T (n.*466C>T)
n.11442C>T
c.*7054C>T (n.*7054C>T)
c.11297C>T (p.Ala3766Val)
c.11372C>T (p.Ala3791Val)
n.314C>T
c.11369C>T (p.Ala3790Val)
c.11294C>T (p.Ala3765Val)
c.10994C>T (p.Ala3665Val)
c.8258C>T (p.Ala2753Val)
c.7151C>T (p.Ala2384Val)
c.11177C>T (p.Ala3726Val)
c.6929C>T (p.Ala2310Val)
c.10157C>T (p.Ala3386Val)
8g.99868371dupCA2697550079VPS13Bc.*467dup (n.*467dup)
n.11443dup
c.*7055dup (n.*7055dup)
c.11298dup (p.Lys3767GlnfsTer24)
c.11373dup (p.Lys3792GlnfsTer24)
n.315dup
c.11370dup (p.Lys3791GlnfsTer24)
c.11295dup (p.Lys3766GlnfsTer24)
c.10995dup (p.Lys3666GlnfsTer24)
c.8259dup (p.Lys2754GlnfsTer24)
c.7152dup (p.Lys2385GlnfsTer24)
c.11178dup (p.Lys3727GlnfsTer24)
c.6930dup (p.Lys2311GlnfsTer24)
c.10158dup (p.Lys3387GlnfsTer24)
 ClinVar
8g.99868371C>ACA462339260VPS13Bc.*467C>A (n.*467C>A)
n.11443C>A
c.*7055C>A (n.*7055C>A)
c.11298C>A (p.Ala3766=)
c.11373C>A (p.Ala3791=)
n.315C>A
c.11370C>A (p.Ala3790=)
c.11295C>A (p.Ala3765=)
c.10995C>A (p.Ala3665=)
c.8259C>A (p.Ala2753=)
c.7152C>A (p.Ala2384=)
c.11178C>A (p.Ala3726=)
c.6930C>A (p.Ala2310=)
c.10158C>A (p.Ala3386=)
8g.99868371C>GCA462339261VPS13Bc.*467C>G (n.*467C>G)
n.11443C>G
c.*7055C>G (n.*7055C>G)
c.11298C>G (p.Ala3766=)
c.11373C>G (p.Ala3791=)
n.315C>G
c.11370C>G (p.Ala3790=)
c.11295C>G (p.Ala3765=)
c.10995C>G (p.Ala3665=)
c.8259C>G (p.Ala2753=)
c.7152C>G (p.Ala2384=)
c.11178C>G (p.Ala3726=)
c.6930C>G (p.Ala2310=)
c.10158C>G (p.Ala3386=)
8g.99868371C>TCA462339263VPS13Bc.*467C>T (n.*467C>T)
n.11443C>T
c.*7055C>T (n.*7055C>T)
c.11298C>T (p.Ala3766=)
c.11373C>T (p.Ala3791=)
n.315C>T
c.11370C>T (p.Ala3790=)
c.11295C>T (p.Ala3765=)
c.10995C>T (p.Ala3665=)
c.8259C>T (p.Ala2753=)
c.7152C>T (p.Ala2384=)
c.11178C>T (p.Ala3726=)
c.6930C>T (p.Ala2310=)
c.10158C>T (p.Ala3386=)
8g.99868372A>CCA371792041VPS13Bc.*468A>C (n.*468A>C)
n.11444A>C
c.*7056A>C (n.*7056A>C)
c.11299A>C (p.Lys3767Gln)
c.11374A>C (p.Lys3792Gln)
n.316A>C
c.11371A>C (p.Lys3791Gln)
c.11296A>C (p.Lys3766Gln)
c.10996A>C (p.Lys3666Gln)
c.8260A>C (p.Lys2754Gln)
c.7153A>C (p.Lys2385Gln)
c.11179A>C (p.Lys3727Gln)
c.6931A>C (p.Lys2311Gln)
c.10159A>C (p.Lys3387Gln)
8g.99868372A>GCA371792043VPS13Bc.*468A>G (n.*468A>G)
n.11444A>G
c.*7056A>G (n.*7056A>G)
c.11299A>G (p.Lys3767Glu)
c.11374A>G (p.Lys3792Glu)
n.316A>G
c.11371A>G (p.Lys3791Glu)
c.11296A>G (p.Lys3766Glu)
c.10996A>G (p.Lys3666Glu)
c.8260A>G (p.Lys2754Glu)
c.7153A>G (p.Lys2385Glu)
c.11179A>G (p.Lys3727Glu)
c.6931A>G (p.Lys2311Glu)
c.10159A>G (p.Lys3387Glu)
8g.99868372A>TCA371792045VPS13Bc.*468A>T (n.*468A>T)
n.11444A>T
c.*7056A>T (n.*7056A>T)
c.11299A>T (p.Lys3767Ter)
c.11374A>T (p.Lys3792Ter)
n.316A>T
c.11371A>T (p.Lys3791Ter)
c.11296A>T (p.Lys3766Ter)
c.10996A>T (p.Lys3666Ter)
c.8260A>T (p.Lys2754Ter)
c.7153A>T (p.Lys2385Ter)
c.11179A>T (p.Lys3727Ter)
c.6931A>T (p.Lys2311Ter)
c.10159A>T (p.Lys3387Ter)
8g.99868373A>CCA371792047VPS13Bc.*469A>C (n.*469A>C)
n.11445A>C
c.*7057A>C (n.*7057A>C)
c.11300A>C (p.Lys3767Thr)
c.11375A>C (p.Lys3792Thr)
n.317A>C
c.11372A>C (p.Lys3791Thr)
c.11297A>C (p.Lys3766Thr)
c.10997A>C (p.Lys3666Thr)
c.8261A>C (p.Lys2754Thr)
c.7154A>C (p.Lys2385Thr)
c.11180A>C (p.Lys3727Thr)
c.6932A>C (p.Lys2311Thr)
c.10160A>C (p.Lys3387Thr)
8g.99868373A>GCA371792048VPS13Bc.*469A>G (n.*469A>G)
n.11445A>G
c.*7057A>G (n.*7057A>G)
c.11300A>G (p.Lys3767Arg)
c.11375A>G (p.Lys3792Arg)
n.317A>G
c.11372A>G (p.Lys3791Arg)
c.11297A>G (p.Lys3766Arg)
c.10997A>G (p.Lys3666Arg)
c.8261A>G (p.Lys2754Arg)
c.7154A>G (p.Lys2385Arg)
c.11180A>G (p.Lys3727Arg)
c.6932A>G (p.Lys2311Arg)
c.10160A>G (p.Lys3387Arg)
8g.99868373A>TCA371792049VPS13Bc.*469A>T (n.*469A>T)
n.11445A>T
c.*7057A>T (n.*7057A>T)
c.11300A>T (p.Lys3767Met)
c.11375A>T (p.Lys3792Met)
n.317A>T
c.11372A>T (p.Lys3791Met)
c.11297A>T (p.Lys3766Met)
c.10997A>T (p.Lys3666Met)
c.8261A>T (p.Lys2754Met)
c.7154A>T (p.Lys2385Met)
c.11180A>T (p.Lys3727Met)
c.6932A>T (p.Lys2311Met)
c.10160A>T (p.Lys3387Met)
8g.99868374G>ACA462339273VPS13Bc.*470G>A (n.*470G>A)
n.11446G>A
c.*7058G>A (n.*7058G>A)
c.11301G>A (p.Lys3767=)
c.11376G>A (p.Lys3792=)
n.318G>A
c.11373G>A (p.Lys3791=)
c.11298G>A (p.Lys3766=)
c.10998G>A (p.Lys3666=)
c.8262G>A (p.Lys2754=)
c.7155G>A (p.Lys2385=)
c.11181G>A (p.Lys3727=)
c.6933G>A (p.Lys2311=)
c.10161G>A (p.Lys3387=)
 dbSNP
8g.99868374G>CCA371792052VPS13Bc.*470G>C (n.*470G>C)
n.11446G>C
c.*7058G>C (n.*7058G>C)
c.11301G>C (p.Lys3767Asn)
c.11376G>C (p.Lys3792Asn)
n.318G>C
c.11373G>C (p.Lys3791Asn)
c.11298G>C (p.Lys3766Asn)
c.10998G>C (p.Lys3666Asn)
c.8262G>C (p.Lys2754Asn)
c.7155G>C (p.Lys2385Asn)
c.11181G>C (p.Lys3727Asn)
c.6933G>C (p.Lys2311Asn)
c.10161G>C (p.Lys3387Asn)
8g.99868374G>TCA371792054VPS13Bc.*470G>T (n.*470G>T)
n.11446G>T
c.*7058G>T (n.*7058G>T)
c.11301G>T (p.Lys3767Asn)
c.11376G>T (p.Lys3792Asn)
n.318G>T
c.11373G>T (p.Lys3791Asn)
c.11298G>T (p.Lys3766Asn)
c.10998G>T (p.Lys3666Asn)
c.8262G>T (p.Lys2754Asn)
c.7155G>T (p.Lys2385Asn)
c.11181G>T (p.Lys3727Asn)
c.6933G>T (p.Lys2311Asn)
c.10161G>T (p.Lys3387Asn)
8g.99868375G>ACA371792058VPS13Bc.*471G>A (n.*471G>A)
n.11447G>A
c.*7059G>A (n.*7059G>A)
c.11302G>A (p.Gly3768Ser)
c.11377G>A (p.Gly3793Ser)
n.319G>A
c.11374G>A (p.Gly3792Ser)
c.11299G>A (p.Gly3767Ser)
c.10999G>A (p.Gly3667Ser)
c.8263G>A (p.Gly2755Ser)
c.7156G>A (p.Gly2386Ser)
c.11182G>A (p.Gly3728Ser)
c.6934G>A (p.Gly2312Ser)
c.10162G>A (p.Gly3388Ser)
 gnomAD v4
8g.99868375G>CCA4825204VPS13Bc.*471G>C (n.*471G>C)
n.11447G>C
c.*7059G>C (n.*7059G>C)
c.11302G>C (p.Gly3768Arg)
c.11377G>C (p.Gly3793Arg)
n.319G>C
c.11374G>C (p.Gly3792Arg)
c.11299G>C (p.Gly3767Arg)
c.10999G>C (p.Gly3667Arg)
c.8263G>C (p.Gly2755Arg)
c.7156G>C (p.Gly2386Arg)
c.11182G>C (p.Gly3728Arg)
c.6934G>C (p.Gly2312Arg)
c.10162G>C (p.Gly3388Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868375G>TCA371792055VPS13Bc.*471G>T (n.*471G>T)
n.11447G>T
c.*7059G>T (n.*7059G>T)
c.11302G>T (p.Gly3768Cys)
c.11377G>T (p.Gly3793Cys)
n.319G>T
c.11374G>T (p.Gly3792Cys)
c.11299G>T (p.Gly3767Cys)
c.10999G>T (p.Gly3667Cys)
c.8263G>T (p.Gly2755Cys)
c.7156G>T (p.Gly2386Cys)
c.11182G>T (p.Gly3728Cys)
c.6934G>T (p.Gly2312Cys)
c.10162G>T (p.Gly3388Cys)
 dbSNP COSMIC COSMIC
8g.99868376G>ACA371792060VPS13Bc.*472G>A (n.*472G>A)
n.11448G>A
c.*7060G>A (n.*7060G>A)
c.11303G>A (p.Gly3768Asp)
c.11378G>A (p.Gly3793Asp)
n.320G>A
c.11375G>A (p.Gly3792Asp)
c.11300G>A (p.Gly3767Asp)
c.11000G>A (p.Gly3667Asp)
c.8264G>A (p.Gly2755Asp)
c.7157G>A (p.Gly2386Asp)
c.11183G>A (p.Gly3728Asp)
c.6935G>A (p.Gly2312Asp)
c.10163G>A (p.Gly3388Asp)
 dbSNP gnomAD v3 gnomAD v4
8g.99868376G>CCA371792062VPS13Bc.*472G>C (n.*472G>C)
n.11448G>C
c.*7060G>C (n.*7060G>C)
c.11303G>C (p.Gly3768Ala)
c.11378G>C (p.Gly3793Ala)
n.320G>C
c.11375G>C (p.Gly3792Ala)
c.11300G>C (p.Gly3767Ala)
c.11000G>C (p.Gly3667Ala)
c.8264G>C (p.Gly2755Ala)
c.7157G>C (p.Gly2386Ala)
c.11183G>C (p.Gly3728Ala)
c.6935G>C (p.Gly2312Ala)
c.10163G>C (p.Gly3388Ala)
8g.99868376G>TCA371792063VPS13Bc.*472G>T (n.*472G>T)
n.11448G>T
c.*7060G>T (n.*7060G>T)
c.11303G>T (p.Gly3768Val)
c.11378G>T (p.Gly3793Val)
n.320G>T
c.11375G>T (p.Gly3792Val)
c.11300G>T (p.Gly3767Val)
c.11000G>T (p.Gly3667Val)
c.8264G>T (p.Gly2755Val)
c.7157G>T (p.Gly2386Val)
c.11183G>T (p.Gly3728Val)
c.6935G>T (p.Gly2312Val)
c.10163G>T (p.Gly3388Val)
8g.99868377T>ACA462339284VPS13Bc.*473T>A (n.*473T>A)
n.11449T>A
c.*7061T>A (n.*7061T>A)
c.11304T>A (p.Gly3768=)
c.11379T>A (p.Gly3793=)
n.321T>A
c.11376T>A (p.Gly3792=)
c.11301T>A (p.Gly3767=)
c.11001T>A (p.Gly3667=)
c.8265T>A (p.Gly2755=)
c.7158T>A (p.Gly2386=)
c.11184T>A (p.Gly3728=)
c.6936T>A (p.Gly2312=)
c.10164T>A (p.Gly3388=)
8g.99868377T>CCA462339285VPS13Bc.*473T>C (n.*473T>C)
n.11449T>C
c.*7061T>C (n.*7061T>C)
c.11304T>C (p.Gly3768=)
c.11379T>C (p.Gly3793=)
n.321T>C
c.11376T>C (p.Gly3792=)
c.11301T>C (p.Gly3767=)
c.11001T>C (p.Gly3667=)
c.8265T>C (p.Gly2755=)
c.7158T>C (p.Gly2386=)
c.11184T>C (p.Gly3728=)
c.6936T>C (p.Gly2312=)
c.10164T>C (p.Gly3388=)
8g.99868377T>GCA462339287VPS13Bc.*473T>G (n.*473T>G)
n.11449T>G
c.*7061T>G (n.*7061T>G)
c.11304T>G (p.Gly3768=)
c.11379T>G (p.Gly3793=)
n.321T>G
c.11376T>G (p.Gly3792=)
c.11301T>G (p.Gly3767=)
c.11001T>G (p.Gly3667=)
c.8265T>G (p.Gly2755=)
c.7158T>G (p.Gly2386=)
c.11184T>G (p.Gly3728=)
c.6936T>G (p.Gly2312=)
c.10164T>G (p.Gly3388=)
 dbSNP
8g.99868378G>ACA371792066VPS13Bc.*474G>A (n.*474G>A)
n.11450G>A
c.*7062G>A (n.*7062G>A)
c.11305G>A (p.Val3769Ile)
c.11380G>A (p.Val3794Ile)
n.322G>A
c.11377G>A (p.Val3793Ile)
c.11302G>A (p.Val3768Ile)
c.11002G>A (p.Val3668Ile)
c.8266G>A (p.Val2756Ile)
c.7159G>A (p.Val2387Ile)
c.11185G>A (p.Val3729Ile)
c.6937G>A (p.Val2313Ile)
c.10165G>A (p.Val3389Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99868378G>CCA371792067VPS13Bc.*474G>C (n.*474G>C)
n.11450G>C
c.*7062G>C (n.*7062G>C)
c.11305G>C (p.Val3769Leu)
c.11380G>C (p.Val3794Leu)
n.322G>C
c.11377G>C (p.Val3793Leu)
c.11302G>C (p.Val3768Leu)
c.11002G>C (p.Val3668Leu)
c.8266G>C (p.Val2756Leu)
c.7159G>C (p.Val2387Leu)
c.11185G>C (p.Val3729Leu)
c.6937G>C (p.Val2313Leu)
c.10165G>C (p.Val3389Leu)
8g.99868378G>TCA371792069VPS13Bc.*474G>T (n.*474G>T)
n.11450G>T
c.*7062G>T (n.*7062G>T)
c.11305G>T (p.Val3769Phe)
c.11380G>T (p.Val3794Phe)
n.322G>T
c.11377G>T (p.Val3793Phe)
c.11302G>T (p.Val3768Phe)
c.11002G>T (p.Val3668Phe)
c.8266G>T (p.Val2756Phe)
c.7159G>T (p.Val2387Phe)
c.11185G>T (p.Val3729Phe)
c.6937G>T (p.Val2313Phe)
c.10165G>T (p.Val3389Phe)
8g.99868379T>ACA371792070VPS13Bc.*475T>A (n.*475T>A)
n.11451T>A
c.*7063T>A (n.*7063T>A)
c.11306T>A (p.Val3769Asp)
c.11381T>A (p.Val3794Asp)
n.323T>A
c.11378T>A (p.Val3793Asp)
c.11303T>A (p.Val3768Asp)
c.11003T>A (p.Val3668Asp)
c.8267T>A (p.Val2756Asp)
c.7160T>A (p.Val2387Asp)
c.11186T>A (p.Val3729Asp)
c.6938T>A (p.Val2313Asp)
c.10166T>A (p.Val3389Asp)
8g.99868379T>CCA371792071VPS13Bc.*475T>C (n.*475T>C)
n.11451T>C
c.*7063T>C (n.*7063T>C)
c.11306T>C (p.Val3769Ala)
c.11381T>C (p.Val3794Ala)
n.323T>C
c.11378T>C (p.Val3793Ala)
c.11303T>C (p.Val3768Ala)
c.11003T>C (p.Val3668Ala)
c.8267T>C (p.Val2756Ala)
c.7160T>C (p.Val2387Ala)
c.11186T>C (p.Val3729Ala)
c.6938T>C (p.Val2313Ala)
c.10166T>C (p.Val3389Ala)
8g.99868379T>GCA371792072VPS13Bc.*475T>G (n.*475T>G)
n.11451T>G
c.*7063T>G (n.*7063T>G)
c.11306T>G (p.Val3769Gly)
c.11381T>G (p.Val3794Gly)
n.323T>G
c.11378T>G (p.Val3793Gly)
c.11303T>G (p.Val3768Gly)
c.11003T>G (p.Val3668Gly)
c.8267T>G (p.Val2756Gly)
c.7160T>G (p.Val2387Gly)
c.11186T>G (p.Val3729Gly)
c.6938T>G (p.Val2313Gly)
c.10166T>G (p.Val3389Gly)
8g.99868380C>ACA462339294VPS13Bc.*476C>A (n.*476C>A)
n.11452C>A
c.*7064C>A (n.*7064C>A)
c.11307C>A (p.Val3769=)
c.11382C>A (p.Val3794=)
n.324C>A
c.11379C>A (p.Val3793=)
c.11304C>A (p.Val3768=)
c.11004C>A (p.Val3668=)
c.8268C>A (p.Val2756=)
c.7161C>A (p.Val2387=)
c.11187C>A (p.Val3729=)
c.6939C>A (p.Val2313=)
c.10167C>A (p.Val3389=)
8g.99868380C>GCA462339295VPS13Bc.*476C>G (n.*476C>G)
n.11452C>G
c.*7064C>G (n.*7064C>G)
c.11307C>G (p.Val3769=)
c.11382C>G (p.Val3794=)
n.324C>G
c.11379C>G (p.Val3793=)
c.11304C>G (p.Val3768=)
c.11004C>G (p.Val3668=)
c.8268C>G (p.Val2756=)
c.7161C>G (p.Val2387=)
c.11187C>G (p.Val3729=)
c.6939C>G (p.Val2313=)
c.10167C>G (p.Val3389=)
8g.99868380C>TCA462339296VPS13Bc.*476C>T (n.*476C>T)
n.11452C>T
c.*7064C>T (n.*7064C>T)
c.11307C>T (p.Val3769=)
c.11382C>T (p.Val3794=)
n.324C>T
c.11379C>T (p.Val3793=)
c.11304C>T (p.Val3768=)
c.11004C>T (p.Val3668=)
c.8268C>T (p.Val2756=)
c.7161C>T (p.Val2387=)
c.11187C>T (p.Val3729=)
c.6939C>T (p.Val2313=)
c.10167C>T (p.Val3389=)
 ClinVar dbSNP gnomAD v4
8g.99868381A>CCA371792076VPS13Bc.*477A>C (n.*477A>C)
n.11453A>C
c.*7065A>C (n.*7065A>C)
c.11308A>C (p.Ile3770Leu)
c.11383A>C (p.Ile3795Leu)
n.325A>C
c.11380A>C (p.Ile3794Leu)
c.11305A>C (p.Ile3769Leu)
c.11005A>C (p.Ile3669Leu)
c.8269A>C (p.Ile2757Leu)
c.7162A>C (p.Ile2388Leu)
c.11188A>C (p.Ile3730Leu)
c.6940A>C (p.Ile2314Leu)
c.10168A>C (p.Ile3390Leu)
8g.99868381A>GCA371792077VPS13Bc.*477A>G (n.*477A>G)
n.11453A>G
c.*7065A>G (n.*7065A>G)
c.11308A>G (p.Ile3770Val)
c.11383A>G (p.Ile3795Val)
n.325A>G
c.11380A>G (p.Ile3794Val)
c.11305A>G (p.Ile3769Val)
c.11005A>G (p.Ile3669Val)
c.8269A>G (p.Ile2757Val)
c.7162A>G (p.Ile2388Val)
c.11188A>G (p.Ile3730Val)
c.6940A>G (p.Ile2314Val)
c.10168A>G (p.Ile3390Val)
8g.99868381A>TCA371792079VPS13Bc.*477A>T (n.*477A>T)
n.11453A>T
c.*7065A>T (n.*7065A>T)
c.11308A>T (p.Ile3770Phe)
c.11383A>T (p.Ile3795Phe)
n.325A>T
c.11380A>T (p.Ile3794Phe)
c.11305A>T (p.Ile3769Phe)
c.11005A>T (p.Ile3669Phe)
c.8269A>T (p.Ile2757Phe)
c.7162A>T (p.Ile2388Phe)
c.11188A>T (p.Ile3730Phe)
c.6940A>T (p.Ile2314Phe)
c.10168A>T (p.Ile3390Phe)
 gnomAD v4
8g.99868382T>ACA371792083VPS13Bc.*478T>A (n.*478T>A)
n.11454T>A
c.*7066T>A (n.*7066T>A)
c.11309T>A (p.Ile3770Asn)
c.11384T>A (p.Ile3795Asn)
n.326T>A
c.11381T>A (p.Ile3794Asn)
c.11306T>A (p.Ile3769Asn)
c.11006T>A (p.Ile3669Asn)
c.8270T>A (p.Ile2757Asn)
c.7163T>A (p.Ile2388Asn)
c.11189T>A (p.Ile3730Asn)
c.6941T>A (p.Ile2314Asn)
c.10169T>A (p.Ile3390Asn)
8g.99868382T>CCA371792085VPS13Bc.*478T>C (n.*478T>C)
n.11454T>C
c.*7066T>C (n.*7066T>C)
c.11309T>C (p.Ile3770Thr)
c.11384T>C (p.Ile3795Thr)
n.326T>C
c.11381T>C (p.Ile3794Thr)
c.11306T>C (p.Ile3769Thr)
c.11006T>C (p.Ile3669Thr)
c.8270T>C (p.Ile2757Thr)
c.7163T>C (p.Ile2388Thr)
c.11189T>C (p.Ile3730Thr)
c.6941T>C (p.Ile2314Thr)
c.10169T>C (p.Ile3390Thr)
 dbSNP
8g.99868382T>GCA371792082VPS13Bc.*478T>G (n.*478T>G)
n.11454T>G
c.*7066T>G (n.*7066T>G)
c.11309T>G (p.Ile3770Ser)
c.11384T>G (p.Ile3795Ser)
n.326T>G
c.11381T>G (p.Ile3794Ser)
c.11306T>G (p.Ile3769Ser)
c.11006T>G (p.Ile3669Ser)
c.8270T>G (p.Ile2757Ser)
c.7163T>G (p.Ile2388Ser)
c.11189T>G (p.Ile3730Ser)
c.6941T>G (p.Ile2314Ser)
c.10169T>G (p.Ile3390Ser)
8g.99868383C>ACA462339301VPS13Bc.*479C>A (n.*479C>A)
n.11455C>A
c.*7067C>A (n.*7067C>A)
c.11310C>A (p.Ile3770=)
c.11385C>A (p.Ile3795=)
n.327C>A
c.11382C>A (p.Ile3794=)
c.11307C>A (p.Ile3769=)
c.11007C>A (p.Ile3669=)
c.8271C>A (p.Ile2757=)
c.7164C>A (p.Ile2388=)
c.11190C>A (p.Ile3730=)
c.6942C>A (p.Ile2314=)
c.10170C>A (p.Ile3390=)
8g.99868383C>GCA371792088VPS13Bc.*479C>G (n.*479C>G)
n.11455C>G
c.*7067C>G (n.*7067C>G)
c.11310C>G (p.Ile3770Met)
c.11385C>G (p.Ile3795Met)
n.327C>G
c.11382C>G (p.Ile3794Met)
c.11307C>G (p.Ile3769Met)
c.11007C>G (p.Ile3669Met)
c.8271C>G (p.Ile2757Met)
c.7164C>G (p.Ile2388Met)
c.11190C>G (p.Ile3730Met)
c.6942C>G (p.Ile2314Met)
c.10170C>G (p.Ile3390Met)
8g.99868383C>TCA462339302VPS13Bc.*479C>T (n.*479C>T)
n.11455C>T
c.*7067C>T (n.*7067C>T)
c.11310C>T (p.Ile3770=)
c.11385C>T (p.Ile3795=)
n.327C>T
c.11382C>T (p.Ile3794=)
c.11307C>T (p.Ile3769=)
c.11007C>T (p.Ile3669=)
c.8271C>T (p.Ile2757=)
c.7164C>T (p.Ile2388=)
c.11190C>T (p.Ile3730=)
c.6942C>T (p.Ile2314=)
c.10170C>T (p.Ile3390=)
8g.99868384T>ACA371792090VPS13Bc.*480T>A (n.*480T>A)
n.11456T>A
c.*7068T>A (n.*7068T>A)
c.11311T>A (p.Ser3771Thr)
c.11386T>A (p.Ser3796Thr)
n.328T>A
c.11383T>A (p.Ser3795Thr)
c.11308T>A (p.Ser3770Thr)
c.11008T>A (p.Ser3670Thr)
c.8272T>A (p.Ser2758Thr)
c.7165T>A (p.Ser2389Thr)
c.11191T>A (p.Ser3731Thr)
c.6943T>A (p.Ser2315Thr)
c.10171T>A (p.Ser3391Thr)
8g.99868384T>CCA371792091VPS13Bc.*480T>C (n.*480T>C)
n.11456T>C
c.*7068T>C (n.*7068T>C)
c.11311T>C (p.Ser3771Pro)
c.11386T>C (p.Ser3796Pro)
n.328T>C
c.11383T>C (p.Ser3795Pro)
c.11308T>C (p.Ser3770Pro)
c.11008T>C (p.Ser3670Pro)
c.8272T>C (p.Ser2758Pro)
c.7165T>C (p.Ser2389Pro)
c.11191T>C (p.Ser3731Pro)
c.6943T>C (p.Ser2315Pro)
c.10171T>C (p.Ser3391Pro)
8g.99868384T>GCA371792092VPS13Bc.*480T>G (n.*480T>G)
n.11456T>G
c.*7068T>G (n.*7068T>G)
c.11311T>G (p.Ser3771Ala)
c.11386T>G (p.Ser3796Ala)
n.328T>G
c.11383T>G (p.Ser3795Ala)
c.11308T>G (p.Ser3770Ala)
c.11008T>G (p.Ser3670Ala)
c.8272T>G (p.Ser2758Ala)
c.7165T>G (p.Ser2389Ala)
c.11191T>G (p.Ser3731Ala)
c.6943T>G (p.Ser2315Ala)
c.10171T>G (p.Ser3391Ala)
8g.99868385C>ACA371792093VPS13Bc.*481C>A (n.*481C>A)
n.11457C>A
c.*7069C>A (n.*7069C>A)
c.11312C>A (p.Ser3771Ter)
c.11387C>A (p.Ser3796Ter)
n.329C>A
c.11384C>A (p.Ser3795Ter)
c.11309C>A (p.Ser3770Ter)
c.11009C>A (p.Ser3670Ter)
c.8273C>A (p.Ser2758Ter)
c.7166C>A (p.Ser2389Ter)
c.11192C>A (p.Ser3731Ter)
c.6944C>A (p.Ser2315Ter)
c.10172C>A (p.Ser3391Ter)
 gnomAD v4
8g.99868385C>GCA371792094VPS13Bc.*481C>G (n.*481C>G)
n.11457C>G
c.*7069C>G (n.*7069C>G)
c.11312C>G (p.Ser3771Trp)
c.11387C>G (p.Ser3796Trp)
n.329C>G
c.11384C>G (p.Ser3795Trp)
c.11309C>G (p.Ser3770Trp)
c.11009C>G (p.Ser3670Trp)
c.8273C>G (p.Ser2758Trp)
c.7166C>G (p.Ser2389Trp)
c.11192C>G (p.Ser3731Trp)
c.6944C>G (p.Ser2315Trp)
c.10172C>G (p.Ser3391Trp)
8g.99868385C>TCA4825205VPS13Bc.*481C>T (n.*481C>T)
n.11457C>T
c.*7069C>T (n.*7069C>T)
c.11312C>T (p.Ser3771Leu)
c.11387C>T (p.Ser3796Leu)
n.329C>T
c.11384C>T (p.Ser3795Leu)
c.11309C>T (p.Ser3770Leu)
c.11009C>T (p.Ser3670Leu)
c.8273C>T (p.Ser2758Leu)
c.7166C>T (p.Ser2389Leu)
c.11192C>T (p.Ser3731Leu)
c.6944C>T (p.Ser2315Leu)
c.10172C>T (p.Ser3391Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868386G>ACA4825206VPS13Bc.*482G>A (n.*482G>A)
n.11458G>A
c.*7070G>A (n.*7070G>A)
c.11313G>A (p.Ser3771=)
c.11388G>A (p.Ser3796=)
n.330G>A
c.11385G>A (p.Ser3795=)
c.11310G>A (p.Ser3770=)
c.11010G>A (p.Ser3670=)
c.8274G>A (p.Ser2758=)
c.7167G>A (p.Ser2389=)
c.11193G>A (p.Ser3731=)
c.6945G>A (p.Ser2315=)
c.10173G>A (p.Ser3391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868386G>CCA462339308VPS13Bc.*482G>C (n.*482G>C)
n.11458G>C
c.*7070G>C (n.*7070G>C)
c.11313G>C (p.Ser3771=)
c.11388G>C (p.Ser3796=)
n.330G>C
c.11385G>C (p.Ser3795=)
c.11310G>C (p.Ser3770=)
c.11010G>C (p.Ser3670=)
c.8274G>C (p.Ser2758=)
c.7167G>C (p.Ser2389=)
c.11193G>C (p.Ser3731=)
c.6945G>C (p.Ser2315=)
c.10173G>C (p.Ser3391=)
8g.99868386G>TCA462339310VPS13Bc.*482G>T (n.*482G>T)
n.11458G>T
c.*7070G>T (n.*7070G>T)
c.11313G>T (p.Ser3771=)
c.11388G>T (p.Ser3796=)
n.330G>T
c.11385G>T (p.Ser3795=)
c.11310G>T (p.Ser3770=)
c.11010G>T (p.Ser3670=)
c.8274G>T (p.Ser2758=)
c.7167G>T (p.Ser2389=)
c.11193G>T (p.Ser3731=)
c.6945G>T (p.Ser2315=)
c.10173G>T (p.Ser3391=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99868388delCA2697550080VPS13Bc.*484del (n.*484del)
n.11460del
c.*7072del (n.*7072del)
c.11315del (p.Gly3772ValfsTer?)
c.11390del (p.Gly3797ValfsTer?)
n.332del
c.11387del (p.Gly3796ValfsTer?)
c.11312del (p.Gly3771ValfsTer?)
c.11012del (p.Gly3671ValfsTer?)
c.8276del (p.Gly2759ValfsTer?)
c.7169del (p.Gly2390ValfsTer?)
c.11195del (p.Gly3732ValfsTer?)
c.6947del (p.Gly2316ValfsTer?)
c.10175del (p.Gly3392ValfsTer?)
 ClinVar
8g.99868387G>ACA371792096VPS13Bc.*483G>A (n.*483G>A)
n.11459G>A
c.*7071G>A (n.*7071G>A)
c.11314G>A (p.Gly3772Ser)
c.11389G>A (p.Gly3797Ser)
n.331G>A
c.11386G>A (p.Gly3796Ser)
c.11311G>A (p.Gly3771Ser)
c.11011G>A (p.Gly3671Ser)
c.8275G>A (p.Gly2759Ser)
c.7168G>A (p.Gly2390Ser)
c.11194G>A (p.Gly3732Ser)
c.6946G>A (p.Gly2316Ser)
c.10174G>A (p.Gly3392Ser)
 ClinVar
8g.99868387G>CCA371792098VPS13Bc.*483G>C (n.*483G>C)
n.11459G>C
c.*7071G>C (n.*7071G>C)
c.11314G>C (p.Gly3772Arg)
c.11389G>C (p.Gly3797Arg)
n.331G>C
c.11386G>C (p.Gly3796Arg)
c.11311G>C (p.Gly3771Arg)
c.11011G>C (p.Gly3671Arg)
c.8275G>C (p.Gly2759Arg)
c.7168G>C (p.Gly2390Arg)
c.11194G>C (p.Gly3732Arg)
c.6946G>C (p.Gly2316Arg)
c.10174G>C (p.Gly3392Arg)
8g.99868387G>TCA371792099VPS13Bc.*483G>T (n.*483G>T)
n.11459G>T
c.*7071G>T (n.*7071G>T)
c.11314G>T (p.Gly3772Cys)
c.11389G>T (p.Gly3797Cys)
n.331G>T
c.11386G>T (p.Gly3796Cys)
c.11311G>T (p.Gly3771Cys)
c.11011G>T (p.Gly3671Cys)
c.8275G>T (p.Gly2759Cys)
c.7168G>T (p.Gly2390Cys)
c.11194G>T (p.Gly3732Cys)
c.6946G>T (p.Gly2316Cys)
c.10174G>T (p.Gly3392Cys)
8g.99868388G>ACA371792102VPS13Bc.*484G>A (n.*484G>A)
n.11460G>A
c.*7072G>A (n.*7072G>A)
c.11315G>A (p.Gly3772Asp)
c.11390G>A (p.Gly3797Asp)
n.332G>A
c.11387G>A (p.Gly3796Asp)
c.11312G>A (p.Gly3771Asp)
c.11012G>A (p.Gly3671Asp)
c.8276G>A (p.Gly2759Asp)
c.7169G>A (p.Gly2390Asp)
c.11195G>A (p.Gly3732Asp)
c.6947G>A (p.Gly2316Asp)
c.10175G>A (p.Gly3392Asp)
8g.99868388G>CCA371792104VPS13Bc.*484G>C (n.*484G>C)
n.11460G>C
c.*7072G>C (n.*7072G>C)
c.11315G>C (p.Gly3772Ala)
c.11390G>C (p.Gly3797Ala)
n.332G>C
c.11387G>C (p.Gly3796Ala)
c.11312G>C (p.Gly3771Ala)
c.11012G>C (p.Gly3671Ala)
c.8276G>C (p.Gly2759Ala)
c.7169G>C (p.Gly2390Ala)
c.11195G>C (p.Gly3732Ala)
c.6947G>C (p.Gly2316Ala)
c.10175G>C (p.Gly3392Ala)
 ClinVar
8g.99868388G>TCA371792105VPS13Bc.*484G>T (n.*484G>T)
n.11460G>T
c.*7072G>T (n.*7072G>T)
c.11315G>T (p.Gly3772Val)
c.11390G>T (p.Gly3797Val)
n.332G>T
c.11387G>T (p.Gly3796Val)
c.11312G>T (p.Gly3771Val)
c.11012G>T (p.Gly3671Val)
c.8276G>T (p.Gly2759Val)
c.7169G>T (p.Gly2390Val)
c.11195G>T (p.Gly3732Val)
c.6947G>T (p.Gly2316Val)
c.10175G>T (p.Gly3392Val)
8g.99868389T>ACA462339315VPS13Bc.*485T>A (n.*485T>A)
n.11461T>A
c.*7073T>A (n.*7073T>A)
c.11316T>A (p.Gly3772=)
c.11391T>A (p.Gly3797=)
n.333T>A
c.11388T>A (p.Gly3796=)
c.11313T>A (p.Gly3771=)
c.11013T>A (p.Gly3671=)
c.8277T>A (p.Gly2759=)
c.7170T>A (p.Gly2390=)
c.11196T>A (p.Gly3732=)
c.6948T>A (p.Gly2316=)
c.10176T>A (p.Gly3392=)
8g.99868389T>CCA4825207VPS13Bc.*485T>C (n.*485T>C)
n.11461T>C
c.*7073T>C (n.*7073T>C)
c.11316T>C (p.Gly3772=)
c.11391T>C (p.Gly3797=)
n.333T>C
c.11388T>C (p.Gly3796=)
c.11313T>C (p.Gly3771=)
c.11013T>C (p.Gly3671=)
c.8277T>C (p.Gly2759=)
c.7170T>C (p.Gly2390=)
c.11196T>C (p.Gly3732=)
c.6948T>C (p.Gly2316=)
c.10176T>C (p.Gly3392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868389T>GCA462339320VPS13Bc.*485T>G (n.*485T>G)
n.11461T>G
c.*7073T>G (n.*7073T>G)
c.11316T>G (p.Gly3772=)
c.11391T>G (p.Gly3797=)
n.333T>G
c.11388T>G (p.Gly3796=)
c.11313T>G (p.Gly3771=)
c.11013T>G (p.Gly3671=)
c.8277T>G (p.Gly2759=)
c.7170T>G (p.Gly2390=)
c.11196T>G (p.Gly3732=)
c.6948T>G (p.Gly2316=)
c.10176T>G (p.Gly3392=)
 ClinVar dbSNP
8g.99868390G>ACA4825208VPS13Bc.*486G>A (n.*486G>A)
n.11462G>A
c.*7074G>A (n.*7074G>A)
c.11317G>A (p.Val3773Met)
c.11392G>A (p.Val3798Met)
n.334G>A
c.11389G>A (p.Val3797Met)
c.11314G>A (p.Val3772Met)
c.11014G>A (p.Val3672Met)
c.8278G>A (p.Val2760Met)
c.7171G>A (p.Val2391Met)
c.11197G>A (p.Val3733Met)
c.6949G>A (p.Val2317Met)
c.10177G>A (p.Val3393Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868390G>CCA371792110VPS13Bc.*486G>C (n.*486G>C)
n.11462G>C
c.*7074G>C (n.*7074G>C)
c.11317G>C (p.Val3773Leu)
c.11392G>C (p.Val3798Leu)
n.334G>C
c.11389G>C (p.Val3797Leu)
c.11314G>C (p.Val3772Leu)
c.11014G>C (p.Val3672Leu)
c.8278G>C (p.Val2760Leu)
c.7171G>C (p.Val2391Leu)
c.11197G>C (p.Val3733Leu)
c.6949G>C (p.Val2317Leu)
c.10177G>C (p.Val3393Leu)
8g.99868390G>TCA371792111VPS13Bc.*486G>T (n.*486G>T)
n.11462G>T
c.*7074G>T (n.*7074G>T)
c.11317G>T (p.Val3773Leu)
c.11392G>T (p.Val3798Leu)
n.334G>T
c.11389G>T (p.Val3797Leu)
c.11314G>T (p.Val3772Leu)
c.11014G>T (p.Val3672Leu)
c.8278G>T (p.Val2760Leu)
c.7171G>T (p.Val2391Leu)
c.11197G>T (p.Val3733Leu)
c.6949G>T (p.Val2317Leu)
c.10177G>T (p.Val3393Leu)
8g.99868391T>ACA371792114VPS13Bc.*487T>A (n.*487T>A)
n.11463T>A
c.*7075T>A (n.*7075T>A)
c.11318T>A (p.Val3773Glu)
c.11393T>A (p.Val3798Glu)
n.335T>A
c.11390T>A (p.Val3797Glu)
c.11315T>A (p.Val3772Glu)
c.11015T>A (p.Val3672Glu)
c.8279T>A (p.Val2760Glu)
c.7172T>A (p.Val2391Glu)
c.11198T>A (p.Val3733Glu)
c.6950T>A (p.Val2317Glu)
c.10178T>A (p.Val3393Glu)
8g.99868391T>CCA4825209VPS13Bc.*487T>C (n.*487T>C)
n.11463T>C
c.*7075T>C (n.*7075T>C)
c.11318T>C (p.Val3773Ala)
c.11393T>C (p.Val3798Ala)
n.335T>C
c.11390T>C (p.Val3797Ala)
c.11315T>C (p.Val3772Ala)
c.11015T>C (p.Val3672Ala)
c.8279T>C (p.Val2760Ala)
c.7172T>C (p.Val2391Ala)
c.11198T>C (p.Val3733Ala)
c.6950T>C (p.Val2317Ala)
c.10178T>C (p.Val3393Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99868391T>GCA371792117VPS13Bc.*487T>G (n.*487T>G)
n.11463T>G
c.*7075T>G (n.*7075T>G)
c.11318T>G (p.Val3773Gly)
c.11393T>G (p.Val3798Gly)
n.335T>G
c.11390T>G (p.Val3797Gly)
c.11315T>G (p.Val3772Gly)
c.11015T>G (p.Val3672Gly)
c.8279T>G (p.Val2760Gly)
c.7172T>G (p.Val2391Gly)
c.11198T>G (p.Val3733Gly)
c.6950T>G (p.Val2317Gly)
c.10178T>G (p.Val3393Gly)
8g.99868392G>ACA462339323VPS13Bc.*488G>A (n.*488G>A)
n.11464G>A
c.*7076G>A (n.*7076G>A)
c.11319G>A (p.Val3773=)
c.11394G>A (p.Val3798=)
n.336G>A
c.11391G>A (p.Val3797=)
c.11316G>A (p.Val3772=)
c.11016G>A (p.Val3672=)
c.8280G>A (p.Val2760=)
c.7173G>A (p.Val2391=)
c.11199G>A (p.Val3733=)
c.6951G>A (p.Val2317=)
c.10179G>A (p.Val3393=)
 ClinVar
8g.99868392G>CCA462339324VPS13Bc.*488G>C (n.*488G>C)
n.11464G>C
c.*7076G>C (n.*7076G>C)
c.11319G>C (p.Val3773=)
c.11394G>C (p.Val3798=)
n.336G>C
c.11391G>C (p.Val3797=)
c.11316G>C (p.Val3772=)
c.11016G>C (p.Val3672=)
c.8280G>C (p.Val2760=)
c.7173G>C (p.Val2391=)
c.11199G>C (p.Val3733=)
c.6951G>C (p.Val2317=)
c.10179G>C (p.Val3393=)
8g.99868392G>TCA462339325VPS13Bc.*488G>T (n.*488G>T)
n.11464G>T
c.*7076G>T (n.*7076G>T)
c.11319G>T (p.Val3773=)
c.11394G>T (p.Val3798=)
n.336G>T
c.11391G>T (p.Val3797=)
c.11316G>T (p.Val3772=)
c.11016G>T (p.Val3672=)
c.8280G>T (p.Val2760=)
c.7173G>T (p.Val2391=)
c.11199G>T (p.Val3733=)
c.6951G>T (p.Val2317=)
c.10179G>T (p.Val3393=)
8g.99868393G>ACA371792120VPS13Bc.*489G>A (n.*489G>A)
n.11465G>A
c.*7077G>A (n.*7077G>A)
c.11320G>A (p.Gly3774Arg)
c.11395G>A (p.Gly3799Arg)
n.337G>A
c.11392G>A (p.Gly3798Arg)
c.11317G>A (p.Gly3773Arg)
c.11017G>A (p.Gly3673Arg)
c.8281G>A (p.Gly2761Arg)
c.7174G>A (p.Gly2392Arg)
c.11200G>A (p.Gly3734Arg)
c.6952G>A (p.Gly2318Arg)
c.10180G>A (p.Gly3394Arg)
8g.99868393G>CCA371792123VPS13Bc.*489G>C (n.*489G>C)
n.11465G>C
c.*7077G>C (n.*7077G>C)
c.11320G>C (p.Gly3774Arg)
c.11395G>C (p.Gly3799Arg)
n.337G>C
c.11392G>C (p.Gly3798Arg)
c.11317G>C (p.Gly3773Arg)
c.11017G>C (p.Gly3673Arg)
c.8281G>C (p.Gly2761Arg)
c.7174G>C (p.Gly2392Arg)
c.11200G>C (p.Gly3734Arg)
c.6952G>C (p.Gly2318Arg)
c.10180G>C (p.Gly3394Arg)
8g.99868393G>TCA371792126VPS13Bc.*489G>T (n.*489G>T)
n.11465G>T
c.*7077G>T (n.*7077G>T)
c.11320G>T (p.Gly3774Trp)
c.11395G>T (p.Gly3799Trp)
n.337G>T
c.11392G>T (p.Gly3798Trp)
c.11317G>T (p.Gly3773Trp)
c.11017G>T (p.Gly3673Trp)
c.8281G>T (p.Gly2761Trp)
c.7174G>T (p.Gly2392Trp)
c.11200G>T (p.Gly3734Trp)
c.6952G>T (p.Gly2318Trp)
c.10180G>T (p.Gly3394Trp)
8g.99868394G>ACA371792130VPS13Bc.*490G>A (n.*490G>A)
n.11466G>A
c.*7078G>A (n.*7078G>A)
c.11321G>A (p.Gly3774Glu)
c.11396G>A (p.Gly3799Glu)
n.338G>A
c.11393G>A (p.Gly3798Glu)
c.11318G>A (p.Gly3773Glu)
c.11018G>A (p.Gly3673Glu)
c.8282G>A (p.Gly2761Glu)
c.7175G>A (p.Gly2392Glu)
c.11201G>A (p.Gly3734Glu)
c.6953G>A (p.Gly2318Glu)
c.10181G>A (p.Gly3394Glu)
 gnomAD v4
8g.99868394G>CCA371792133VPS13Bc.*490G>C (n.*490G>C)
n.11466G>C
c.*7078G>C (n.*7078G>C)
c.11321G>C (p.Gly3774Ala)
c.11396G>C (p.Gly3799Ala)
n.338G>C
c.11393G>C (p.Gly3798Ala)
c.11318G>C (p.Gly3773Ala)
c.11018G>C (p.Gly3673Ala)
c.8282G>C (p.Gly2761Ala)
c.7175G>C (p.Gly2392Ala)
c.11201G>C (p.Gly3734Ala)
c.6953G>C (p.Gly2318Ala)
c.10181G>C (p.Gly3394Ala)
8g.99868394G>TCA371792135VPS13Bc.*490G>T (n.*490G>T)
n.11466G>T
c.*7078G>T (n.*7078G>T)
c.11321G>T (p.Gly3774Val)
c.11396G>T (p.Gly3799Val)
n.338G>T
c.11393G>T (p.Gly3798Val)
c.11318G>T (p.Gly3773Val)
c.11018G>T (p.Gly3673Val)
c.8282G>T (p.Gly2761Val)
c.7175G>T (p.Gly2392Val)
c.11201G>T (p.Gly3734Val)
c.6953G>T (p.Gly2318Val)
c.10181G>T (p.Gly3394Val)
8g.99868395G>ACA462339329VPS13Bc.*491G>A (n.*491G>A)
n.11467G>A
c.*7079G>A (n.*7079G>A)
c.11322G>A (p.Gly3774=)
c.11397G>A (p.Gly3799=)
n.339G>A
c.11394G>A (p.Gly3798=)
c.11319G>A (p.Gly3773=)
c.11019G>A (p.Gly3673=)
c.8283G>A (p.Gly2761=)
c.7176G>A (p.Gly2392=)
c.11202G>A (p.Gly3734=)
c.6954G>A (p.Gly2318=)
c.10182G>A (p.Gly3394=)
 ClinVar dbSNP
8g.99868395G>CCA462339332VPS13Bc.*491G>C (n.*491G>C)
n.11467G>C
c.*7079G>C (n.*7079G>C)
c.11322G>C (p.Gly3774=)
c.11397G>C (p.Gly3799=)
n.339G>C
c.11394G>C (p.Gly3798=)
c.11319G>C (p.Gly3773=)
c.11019G>C (p.Gly3673=)
c.8283G>C (p.Gly2761=)
c.7176G>C (p.Gly2392=)
c.11202G>C (p.Gly3734=)
c.6954G>C (p.Gly2318=)
c.10182G>C (p.Gly3394=)
8g.99868395G>TCA462339327VPS13Bc.*491G>T (n.*491G>T)
n.11467G>T
c.*7079G>T (n.*7079G>T)
c.11322G>T (p.Gly3774=)
c.11397G>T (p.Gly3799=)
n.339G>T
c.11394G>T (p.Gly3798=)
c.11319G>T (p.Gly3773=)
c.11019G>T (p.Gly3673=)
c.8283G>T (p.Gly2761=)
c.7176G>T (p.Gly2392=)
c.11202G>T (p.Gly3734=)
c.6954G>T (p.Gly2318=)
c.10182G>T (p.Gly3394=)
 gnomAD v4
8g.99868396A>CCA371792139VPS13Bc.*492A>C (n.*492A>C)
n.11468A>C
c.*7080A>C (n.*7080A>C)
c.11323A>C (p.Lys3775Gln)
c.11398A>C (p.Lys3800Gln)
n.340A>C
c.11395A>C (p.Lys3799Gln)
c.11320A>C (p.Lys3774Gln)
c.11020A>C (p.Lys3674Gln)
c.8284A>C (p.Lys2762Gln)
c.7177A>C (p.Lys2393Gln)
c.11203A>C (p.Lys3735Gln)
c.6955A>C (p.Lys2319Gln)
c.10183A>C (p.Lys3395Gln)
8g.99868396A>GCA371792140VPS13Bc.*492A>G (n.*492A>G)
n.11468A>G
c.*7080A>G (n.*7080A>G)
c.11323A>G (p.Lys3775Glu)
c.11398A>G (p.Lys3800Glu)
n.340A>G
c.11395A>G (p.Lys3799Glu)
c.11320A>G (p.Lys3774Glu)
c.11020A>G (p.Lys3674Glu)
c.8284A>G (p.Lys2762Glu)
c.7177A>G (p.Lys2393Glu)
c.11203A>G (p.Lys3735Glu)
c.6955A>G (p.Lys2319Glu)
c.10183A>G (p.Lys3395Glu)
8g.99868396A>TCA371792141VPS13Bc.*492A>T (n.*492A>T)
n.11468A>T
c.*7080A>T (n.*7080A>T)
c.11323A>T (p.Lys3775Ter)
c.11398A>T (p.Lys3800Ter)
n.340A>T
c.11395A>T (p.Lys3799Ter)
c.11320A>T (p.Lys3774Ter)
c.11020A>T (p.Lys3674Ter)
c.8284A>T (p.Lys2762Ter)
c.7177A>T (p.Lys2393Ter)
c.11203A>T (p.Lys3735Ter)
c.6955A>T (p.Lys2319Ter)
c.10183A>T (p.Lys3395Ter)
8g.99868397A>CCA371792144VPS13Bc.*493A>C (n.*493A>C)
n.11469A>C
c.*7081A>C (n.*7081A>C)
c.11324A>C (p.Lys3775Thr)
c.11399A>C (p.Lys3800Thr)
n.341A>C
c.11396A>C (p.Lys3799Thr)
c.11321A>C (p.Lys3774Thr)
c.11021A>C (p.Lys3674Thr)
c.8285A>C (p.Lys2762Thr)
c.7178A>C (p.Lys2393Thr)
c.11204A>C (p.Lys3735Thr)
c.6956A>C (p.Lys2319Thr)
c.10184A>C (p.Lys3395Thr)
8g.99868397A>GCA371792145VPS13Bc.*493A>G (n.*493A>G)
n.11469A>G
c.*7081A>G (n.*7081A>G)
c.11324A>G (p.Lys3775Arg)
c.11399A>G (p.Lys3800Arg)
n.341A>G
c.11396A>G (p.Lys3799Arg)
c.11321A>G (p.Lys3774Arg)
c.11021A>G (p.Lys3674Arg)
c.8285A>G (p.Lys2762Arg)
c.7178A>G (p.Lys2393Arg)
c.11204A>G (p.Lys3735Arg)
c.6956A>G (p.Lys2319Arg)
c.10184A>G (p.Lys3395Arg)
 gnomAD v4
8g.99868397A>TCA371792142VPS13Bc.*493A>T (n.*493A>T)
n.11469A>T
c.*7081A>T (n.*7081A>T)
c.11324A>T (p.Lys3775Ile)
c.11399A>T (p.Lys3800Ile)
n.341A>T
c.11396A>T (p.Lys3799Ile)
c.11321A>T (p.Lys3774Ile)
c.11021A>T (p.Lys3674Ile)
c.8285A>T (p.Lys2762Ile)
c.7178A>T (p.Lys2393Ile)
c.11204A>T (p.Lys3735Ile)
c.6956A>T (p.Lys2319Ile)
c.10184A>T (p.Lys3395Ile)
8g.99868398A>CCA371792147VPS13Bc.*494A>C (n.*494A>C)
n.11470A>C
c.*7082A>C (n.*7082A>C)
c.11325A>C (p.Lys3775Asn)
c.11400A>C (p.Lys3800Asn)
n.342A>C
c.11397A>C (p.Lys3799Asn)
c.11322A>C (p.Lys3774Asn)
c.11022A>C (p.Lys3674Asn)
c.8286A>C (p.Lys2762Asn)
c.7179A>C (p.Lys2393Asn)
c.11205A>C (p.Lys3735Asn)
c.6957A>C (p.Lys2319Asn)
c.10185A>C (p.Lys3395Asn)
8g.99868398A>GCA462339334VPS13Bc.*494A>G (n.*494A>G)
n.11470A>G
c.*7082A>G (n.*7082A>G)
c.11325A>G (p.Lys3775=)
c.11400A>G (p.Lys3800=)
n.342A>G
c.11397A>G (p.Lys3799=)
c.11322A>G (p.Lys3774=)
c.11022A>G (p.Lys3674=)
c.8286A>G (p.Lys2762=)
c.7179A>G (p.Lys2393=)
c.11205A>G (p.Lys3735=)
c.6957A>G (p.Lys2319=)
c.10185A>G (p.Lys3395=)
 ClinVar dbSNP gnomAD v4
8g.99868398A>TCA371792146VPS13Bc.*494A>T (n.*494A>T)
n.11470A>T
c.*7082A>T (n.*7082A>T)
c.11325A>T (p.Lys3775Asn)
c.11400A>T (p.Lys3800Asn)
n.342A>T
c.11397A>T (p.Lys3799Asn)
c.11322A>T (p.Lys3774Asn)
c.11022A>T (p.Lys3674Asn)
c.8286A>T (p.Lys2762Asn)
c.7179A>T (p.Lys2393Asn)
c.11205A>T (p.Lys3735Asn)
c.6957A>T (p.Lys2319Asn)
c.10185A>T (p.Lys3395Asn)
8g.99868399G>ACA371792150VPS13Bc.*495G>A (n.*495G>A)
n.11471G>A
c.*7083G>A (n.*7083G>A)
c.11326G>A (p.Gly3776Arg)
c.11401G>A (p.Gly3801Arg)
n.343G>A
c.11398G>A (p.Gly3800Arg)
c.11323G>A (p.Gly3775Arg)
c.11023G>A (p.Gly3675Arg)
c.8287G>A (p.Gly2763Arg)
c.7180G>A (p.Gly2394Arg)
c.11206G>A (p.Gly3736Arg)
c.6958G>A (p.Gly2320Arg)
c.10186G>A (p.Gly3396Arg)
 gnomAD v4
8g.99868399G>CCA371792148VPS13Bc.*495G>C (n.*495G>C)
n.11471G>C
c.*7083G>C (n.*7083G>C)
c.11326G>C (p.Gly3776Arg)
c.11401G>C (p.Gly3801Arg)
n.343G>C
c.11398G>C (p.Gly3800Arg)
c.11323G>C (p.Gly3775Arg)
c.11023G>C (p.Gly3675Arg)
c.8287G>C (p.Gly2763Arg)
c.7180G>C (p.Gly2394Arg)
c.11206G>C (p.Gly3736Arg)
c.6958G>C (p.Gly2320Arg)
c.10186G>C (p.Gly3396Arg)
8g.99868399G>TCA371792149VPS13Bc.*495G>T (n.*495G>T)
n.11471G>T
c.*7083G>T (n.*7083G>T)
c.11326G>T (p.Gly3776Ter)
c.11401G>T (p.Gly3801Ter)
n.343G>T
c.11398G>T (p.Gly3800Ter)
c.11323G>T (p.Gly3775Ter)
c.11023G>T (p.Gly3675Ter)
c.8287G>T (p.Gly2763Ter)
c.7180G>T (p.Gly2394Ter)
c.11206G>T (p.Gly3736Ter)
c.6958G>T (p.Gly2320Ter)
c.10186G>T (p.Gly3396Ter)
8g.99868400G>ACA371792151VPS13Bc.*496G>A (n.*496G>A)
n.11472G>A
c.*7084G>A (n.*7084G>A)
c.11327G>A (p.Gly3776Glu)
c.11402G>A (p.Gly3801Glu)
n.344G>A
c.11399G>A (p.Gly3800Glu)
c.11324G>A (p.Gly3775Glu)
c.11024G>A (p.Gly3675Glu)
c.8288G>A (p.Gly2763Glu)
c.7181G>A (p.Gly2394Glu)
c.11207G>A (p.Gly3736Glu)
c.6959G>A (p.Gly2320Glu)
c.10187G>A (p.Gly3396Glu)
 ClinVar
8g.99868400G>CCA371792154VPS13Bc.*496G>C (n.*496G>C)
n.11472G>C
c.*7084G>C (n.*7084G>C)
c.11327G>C (p.Gly3776Ala)
c.11402G>C (p.Gly3801Ala)
n.344G>C
c.11399G>C (p.Gly3800Ala)
c.11324G>C (p.Gly3775Ala)
c.11024G>C (p.Gly3675Ala)
c.8288G>C (p.Gly2763Ala)
c.7181G>C (p.Gly2394Ala)
c.11207G>C (p.Gly3736Ala)
c.6959G>C (p.Gly2320Ala)
c.10187G>C (p.Gly3396Ala)
 gnomAD v4
8g.99868400G>TCA371792157VPS13Bc.*496G>T (n.*496G>T)
n.11472G>T
c.*7084G>T (n.*7084G>T)
c.11327G>T (p.Gly3776Val)
c.11402G>T (p.Gly3801Val)
n.344G>T
c.11399G>T (p.Gly3800Val)
c.11324G>T (p.Gly3775Val)
c.11024G>T (p.Gly3675Val)
c.8288G>T (p.Gly2763Val)
c.7181G>T (p.Gly2394Val)
c.11207G>T (p.Gly3736Val)
c.6959G>T (p.Gly2320Val)
c.10187G>T (p.Gly3396Val)
 gnomAD v4
8g.99868401A>CCA462339339VPS13Bc.*497A>C (n.*497A>C)
n.11473A>C
c.*7085A>C (n.*7085A>C)
c.11328A>C (p.Gly3776=)
c.11403A>C (p.Gly3801=)
n.345A>C
c.11400A>C (p.Gly3800=)
c.11325A>C (p.Gly3775=)
c.11025A>C (p.Gly3675=)
c.8289A>C (p.Gly2763=)
c.7182A>C (p.Gly2394=)
c.11208A>C (p.Gly3736=)
c.6960A>C (p.Gly2320=)
c.10188A>C (p.Gly3396=)
 gnomAD v4
8g.99868401A>GCA462339337VPS13Bc.*497A>G (n.*497A>G)
n.11473A>G
c.*7085A>G (n.*7085A>G)
c.11328A>G (p.Gly3776=)
c.11403A>G (p.Gly3801=)
n.345A>G
c.11400A>G (p.Gly3800=)
c.11325A>G (p.Gly3775=)
c.11025A>G (p.Gly3675=)
c.8289A>G (p.Gly2763=)
c.7182A>G (p.Gly2394=)
c.11208A>G (p.Gly3736=)
c.6960A>G (p.Gly2320=)
c.10188A>G (p.Gly3396=)
8g.99868401A>TCA462339335VPS13Bc.*497A>T (n.*497A>T)
n.11473A>T
c.*7085A>T (n.*7085A>T)
c.11328A>T (p.Gly3776=)
c.11403A>T (p.Gly3801=)
n.345A>T
c.11400A>T (p.Gly3800=)
c.11325A>T (p.Gly3775=)
c.11025A>T (p.Gly3675=)
c.8289A>T (p.Gly2763=)
c.7182A>T (p.Gly2394=)
c.11208A>T (p.Gly3736=)
c.6960A>T (p.Gly2320=)
c.10188A>T (p.Gly3396=)
8g.99868402A>CCA371792158VPS13Bc.*498A>C (n.*498A>C)
n.11474A>C
c.*7086A>C (n.*7086A>C)
c.11329A>C (p.Ile3777Leu)
c.11404A>C (p.Ile3802Leu)
n.346A>C
c.11401A>C (p.Ile3801Leu)
c.11326A>C (p.Ile3776Leu)
c.11026A>C (p.Ile3676Leu)
c.8290A>C (p.Ile2764Leu)
c.7183A>C (p.Ile2395Leu)
c.11209A>C (p.Ile3737Leu)
c.6961A>C (p.Ile2321Leu)
c.10189A>C (p.Ile3397Leu)
8g.99868402A>GCA371792159VPS13Bc.*498A>G (n.*498A>G)
n.11474A>G
c.*7086A>G (n.*7086A>G)
c.11329A>G (p.Ile3777Val)
c.11404A>G (p.Ile3802Val)
n.346A>G
c.11401A>G (p.Ile3801Val)
c.11326A>G (p.Ile3776Val)
c.11026A>G (p.Ile3676Val)
c.8290A>G (p.Ile2764Val)
c.7183A>G (p.Ile2395Val)
c.11209A>G (p.Ile3737Val)
c.6961A>G (p.Ile2321Val)
c.10189A>G (p.Ile3397Val)
8g.99868402A>TCA371792160VPS13Bc.*498A>T (n.*498A>T)
n.11474A>T
c.*7086A>T (n.*7086A>T)
c.11329A>T (p.Ile3777Phe)
c.11404A>T (p.Ile3802Phe)
n.346A>T
c.11401A>T (p.Ile3801Phe)
c.11326A>T (p.Ile3776Phe)
c.11026A>T (p.Ile3676Phe)
c.8290A>T (p.Ile2764Phe)
c.7183A>T (p.Ile2395Phe)
c.11209A>T (p.Ile3737Phe)
c.6961A>T (p.Ile2321Phe)
c.10189A>T (p.Ile3397Phe)
 gnomAD v4
8g.99868403T>ACA371792161VPS13Bc.*499T>A (n.*499T>A)
n.11475T>A
c.*7087T>A (n.*7087T>A)
c.11330T>A (p.Ile3777Asn)
c.11405T>A (p.Ile3802Asn)
n.347T>A
c.11402T>A (p.Ile3801Asn)
c.11327T>A (p.Ile3776Asn)
c.11027T>A (p.Ile3676Asn)
c.8291T>A (p.Ile2764Asn)
c.7184T>A (p.Ile2395Asn)
c.11210T>A (p.Ile3737Asn)
c.6962T>A (p.Ile2321Asn)
c.10190T>A (p.Ile3397Asn)
8g.99868403T>CCA371792164VPS13Bc.*499T>C (n.*499T>C)
n.11475T>C
c.*7087T>C (n.*7087T>C)
c.11330T>C (p.Ile3777Thr)
c.11405T>C (p.Ile3802Thr)
n.347T>C
c.11402T>C (p.Ile3801Thr)
c.11327T>C (p.Ile3776Thr)
c.11027T>C (p.Ile3676Thr)
c.8291T>C (p.Ile2764Thr)
c.7184T>C (p.Ile2395Thr)
c.11210T>C (p.Ile3737Thr)
c.6962T>C (p.Ile2321Thr)
c.10190T>C (p.Ile3397Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.99868403T>GCA371792162VPS13Bc.*499T>G (n.*499T>G)
n.11475T>G
c.*7087T>G (n.*7087T>G)
c.11330T>G (p.Ile3777Ser)
c.11405T>G (p.Ile3802Ser)
n.347T>G
c.11402T>G (p.Ile3801Ser)
c.11327T>G (p.Ile3776Ser)
c.11027T>G (p.Ile3676Ser)
c.8291T>G (p.Ile2764Ser)
c.7184T>G (p.Ile2395Ser)
c.11210T>G (p.Ile3737Ser)
c.6962T>G (p.Ile2321Ser)
c.10190T>G (p.Ile3397Ser)
8g.99868404C>ACA462339341VPS13Bc.*500C>A (n.*500C>A)
n.11476C>A
c.*7088C>A (n.*7088C>A)
c.11331C>A (p.Ile3777=)
c.11406C>A (p.Ile3802=)
n.348C>A
c.11403C>A (p.Ile3801=)
c.11328C>A (p.Ile3776=)
c.11028C>A (p.Ile3676=)
c.8292C>A (p.Ile2764=)
c.7185C>A (p.Ile2395=)
c.11211C>A (p.Ile3737=)
c.6963C>A (p.Ile2321=)
c.10191C>A (p.Ile3397=)
8g.99868404C>GCA371792166VPS13Bc.*500C>G (n.*500C>G)
n.11476C>G
c.*7088C>G (n.*7088C>G)
c.11331C>G (p.Ile3777Met)
c.11406C>G (p.Ile3802Met)
n.348C>G
c.11403C>G (p.Ile3801Met)
c.11328C>G (p.Ile3776Met)
c.11028C>G (p.Ile3676Met)
c.8292C>G (p.Ile2764Met)
c.7185C>G (p.Ile2395Met)
c.11211C>G (p.Ile3737Met)
c.6963C>G (p.Ile2321Met)
c.10191C>G (p.Ile3397Met)
8g.99868404C>TCA182328687VPS13Bc.*500C>T (n.*500C>T)
n.11476C>T
c.*7088C>T (n.*7088C>T)
c.11331C>T (p.Ile3777=)
c.11406C>T (p.Ile3802=)
n.348C>T
c.11403C>T (p.Ile3801=)
c.11328C>T (p.Ile3776=)
c.11028C>T (p.Ile3676=)
c.8292C>T (p.Ile2764=)
c.7185C>T (p.Ile2395=)
c.11211C>T (p.Ile3737=)
c.6963C>T (p.Ile2321=)
c.10191C>T (p.Ile3397=)
 ClinVar dbSNP gnomAD v4
8g.99868405A>CCA371792169VPS13Bc.*501A>C (n.*501A>C)
n.11477A>C
c.*7089A>C (n.*7089A>C)
c.11332A>C (p.Met3778Leu)
c.11407A>C (p.Met3803Leu)
n.349A>C
c.11404A>C (p.Met3802Leu)
c.11329A>C (p.Met3777Leu)
c.11029A>C (p.Met3677Leu)
c.8293A>C (p.Met2765Leu)
c.7186A>C (p.Met2396Leu)
c.11212A>C (p.Met3738Leu)
c.6964A>C (p.Met2322Leu)
c.10192A>C (p.Met3398Leu)
8g.99868405A>GCA371792171VPS13Bc.*501A>G (n.*501A>G)
n.11477A>G
c.*7089A>G (n.*7089A>G)
c.11332A>G (p.Met3778Val)
c.11407A>G (p.Met3803Val)
n.349A>G
c.11404A>G (p.Met3802Val)
c.11329A>G (p.Met3777Val)
c.11029A>G (p.Met3677Val)
c.8293A>G (p.Met2765Val)
c.7186A>G (p.Met2396Val)
c.11212A>G (p.Met3738Val)
c.6964A>G (p.Met2322Val)
c.10192A>G (p.Met3398Val)
8g.99868405A>TCA371792174VPS13Bc.*501A>T (n.*501A>T)
n.11477A>T
c.*7089A>T (n.*7089A>T)
c.11332A>T (p.Met3778Leu)
c.11407A>T (p.Met3803Leu)
n.349A>T
c.11404A>T (p.Met3802Leu)
c.11329A>T (p.Met3777Leu)
c.11029A>T (p.Met3677Leu)
c.8293A>T (p.Met2765Leu)
c.7186A>T (p.Met2396Leu)
c.11212A>T (p.Met3738Leu)
c.6964A>T (p.Met2322Leu)
c.10192A>T (p.Met3398Leu)
8g.99868406T>ACA371792179VPS13Bc.*502T>A (n.*502T>A)
n.11478T>A
c.*7090T>A (n.*7090T>A)
c.11333T>A (p.Met3778Lys)
c.11408T>A (p.Met3803Lys)
n.350T>A
c.11405T>A (p.Met3802Lys)
c.11330T>A (p.Met3777Lys)
c.11030T>A (p.Met3677Lys)
c.8294T>A (p.Met2765Lys)
c.7187T>A (p.Met2396Lys)
c.11213T>A (p.Met3738Lys)
c.6965T>A (p.Met2322Lys)
c.10193T>A (p.Met3398Lys)
8g.99868406T>CCA4825210VPS13Bc.*502T>C (n.*502T>C)
n.11478T>C
c.*7090T>C (n.*7090T>C)
c.11333T>C (p.Met3778Thr)
c.11408T>C (p.Met3803Thr)
n.350T>C
c.11405T>C (p.Met3802Thr)
c.11330T>C (p.Met3777Thr)
c.11030T>C (p.Met3677Thr)
c.8294T>C (p.Met2765Thr)
c.7187T>C (p.Met2396Thr)
c.11213T>C (p.Met3738Thr)
c.6965T>C (p.Met2322Thr)
c.10193T>C (p.Met3398Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868406T>GCA371792183VPS13Bc.*502T>G (n.*502T>G)
n.11478T>G
c.*7090T>G (n.*7090T>G)
c.11333T>G (p.Met3778Arg)
c.11408T>G (p.Met3803Arg)
n.350T>G
c.11405T>G (p.Met3802Arg)
c.11330T>G (p.Met3777Arg)
c.11030T>G (p.Met3677Arg)
c.8294T>G (p.Met2765Arg)
c.7187T>G (p.Met2396Arg)
c.11213T>G (p.Met3738Arg)
c.6965T>G (p.Met2322Arg)
c.10193T>G (p.Met3398Arg)
8g.99868406dupCA913128148VPS13Bc.*502dup (n.*502dup)
n.11478dup
c.*7090dup (n.*7090dup)
c.11333dup (p.Met3778IlefsTer13)
c.11408dup (p.Met3803IlefsTer13)
n.350dup
c.11405dup (p.Met3802IlefsTer13)
c.11330dup (p.Met3777IlefsTer13)
c.11030dup (p.Met3677IlefsTer13)
c.8294dup (p.Met2765IlefsTer13)
c.7187dup (p.Met2396IlefsTer13)
c.11213dup (p.Met3738IlefsTer13)
c.6965dup (p.Met2322IlefsTer13)
c.10193dup (p.Met3398IlefsTer13)
8g.99868407G>ACA4825211VPS13Bc.*503G>A (n.*503G>A)
n.11479G>A
c.*7091G>A (n.*7091G>A)
c.11334G>A (p.Met3778Ile)
c.11409G>A (p.Met3803Ile)
n.351G>A
c.11406G>A (p.Met3802Ile)
c.11331G>A (p.Met3777Ile)
c.11031G>A (p.Met3677Ile)
c.8295G>A (p.Met2765Ile)
c.7188G>A (p.Met2396Ile)
c.11214G>A (p.Met3738Ile)
c.6966G>A (p.Met2322Ile)
c.10194G>A (p.Met3398Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868407G>CCA371792189VPS13Bc.*503G>C (n.*503G>C)
n.11479G>C
c.*7091G>C (n.*7091G>C)
c.11334G>C (p.Met3778Ile)
c.11409G>C (p.Met3803Ile)
n.351G>C
c.11406G>C (p.Met3802Ile)
c.11331G>C (p.Met3777Ile)
c.11031G>C (p.Met3677Ile)
c.8295G>C (p.Met2765Ile)
c.7188G>C (p.Met2396Ile)
c.11214G>C (p.Met3738Ile)
c.6966G>C (p.Met2322Ile)
c.10194G>C (p.Met3398Ile)
 ClinVar dbSNP
8g.99868407G>TCA371792192VPS13Bc.*503G>T (n.*503G>T)
n.11479G>T
c.*7091G>T (n.*7091G>T)
c.11334G>T (p.Met3778Ile)
c.11409G>T (p.Met3803Ile)
n.351G>T
c.11406G>T (p.Met3802Ile)
c.11331G>T (p.Met3777Ile)
c.11031G>T (p.Met3677Ile)
c.8295G>T (p.Met2765Ile)
c.7188G>T (p.Met2396Ile)
c.11214G>T (p.Met3738Ile)
c.6966G>T (p.Met2322Ile)
c.10194G>T (p.Met3398Ile)
8g.99868411dupCA658821918VPS13Bc.*507dup (n.*507dup)
n.11483dup
c.*7095dup (n.*7095dup)
c.11338dup (p.Val3780GlyfsTer11)
c.11413dup (p.Val3805GlyfsTer11)
n.355dup
c.11410dup (p.Val3804GlyfsTer11)
c.11335dup (p.Val3779GlyfsTer11)
c.11035dup (p.Val3679GlyfsTer11)
c.8299dup (p.Val2767GlyfsTer11)
c.7192dup (p.Val2398GlyfsTer11)
c.11218dup (p.Val3740GlyfsTer11)
c.6970dup (p.Val2324GlyfsTer11)
c.10198dup (p.Val3400GlyfsTer11)
 ClinVar dbSNP
8g.99868408G>ACA371792194VPS13Bc.*504G>A (n.*504G>A)
n.11480G>A
c.*7092G>A (n.*7092G>A)
c.11335G>A (p.Gly3779Arg)
c.11410G>A (p.Gly3804Arg)
n.352G>A
c.11407G>A (p.Gly3803Arg)
c.11332G>A (p.Gly3778Arg)
c.11032G>A (p.Gly3678Arg)
c.8296G>A (p.Gly2766Arg)
c.7189G>A (p.Gly2397Arg)
c.11215G>A (p.Gly3739Arg)
c.6967G>A (p.Gly2323Arg)
c.10195G>A (p.Gly3399Arg)
8g.99868408G>CCA371792197VPS13Bc.*504G>C (n.*504G>C)
n.11480G>C
c.*7092G>C (n.*7092G>C)
c.11335G>C (p.Gly3779Arg)
c.11410G>C (p.Gly3804Arg)
n.352G>C
c.11407G>C (p.Gly3803Arg)
c.11332G>C (p.Gly3778Arg)
c.11032G>C (p.Gly3678Arg)
c.8296G>C (p.Gly2766Arg)
c.7189G>C (p.Gly2397Arg)
c.11215G>C (p.Gly3739Arg)
c.6967G>C (p.Gly2323Arg)
c.10195G>C (p.Gly3399Arg)
8g.99868408G>TCA371792199VPS13Bc.*504G>T (n.*504G>T)
n.11480G>T
c.*7092G>T (n.*7092G>T)
c.11335G>T (p.Gly3779Trp)
c.11410G>T (p.Gly3804Trp)
n.352G>T
c.11407G>T (p.Gly3803Trp)
c.11332G>T (p.Gly3778Trp)
c.11032G>T (p.Gly3678Trp)
c.8296G>T (p.Gly2766Trp)
c.7189G>T (p.Gly2397Trp)
c.11215G>T (p.Gly3739Trp)
c.6967G>T (p.Gly2323Trp)
c.10195G>T (p.Gly3399Trp)
8g.99868409G>ACA371792202VPS13Bc.*505G>A (n.*505G>A)
n.11481G>A
c.*7093G>A (n.*7093G>A)
c.11336G>A (p.Gly3779Glu)
c.11411G>A (p.Gly3804Glu)
n.353G>A
c.11408G>A (p.Gly3803Glu)
c.11333G>A (p.Gly3778Glu)
c.11033G>A (p.Gly3678Glu)
c.8297G>A (p.Gly2766Glu)
c.7190G>A (p.Gly2397Glu)
c.11216G>A (p.Gly3739Glu)
c.6968G>A (p.Gly2323Glu)
c.10196G>A (p.Gly3399Glu)
8g.99868409G>CCA371792205VPS13Bc.*505G>C (n.*505G>C)
n.11481G>C
c.*7093G>C (n.*7093G>C)
c.11336G>C (p.Gly3779Ala)
c.11411G>C (p.Gly3804Ala)
n.353G>C
c.11408G>C (p.Gly3803Ala)
c.11333G>C (p.Gly3778Ala)
c.11033G>C (p.Gly3678Ala)
c.8297G>C (p.Gly2766Ala)
c.7190G>C (p.Gly2397Ala)
c.11216G>C (p.Gly3739Ala)
c.6968G>C (p.Gly2323Ala)
c.10196G>C (p.Gly3399Ala)
 ClinVar
8g.99868409G>TCA371792207VPS13Bc.*505G>T (n.*505G>T)
n.11481G>T
c.*7093G>T (n.*7093G>T)
c.11336G>T (p.Gly3779Val)
c.11411G>T (p.Gly3804Val)
n.353G>T
c.11408G>T (p.Gly3803Val)
c.11333G>T (p.Gly3778Val)
c.11033G>T (p.Gly3678Val)
c.8297G>T (p.Gly2766Val)
c.7190G>T (p.Gly2397Val)
c.11216G>T (p.Gly3739Val)
c.6968G>T (p.Gly2323Val)
c.10196G>T (p.Gly3399Val)
8g.99868410G>ACA462339350VPS13Bc.*506G>A (n.*506G>A)
n.11482G>A
c.*7094G>A (n.*7094G>A)
c.11337G>A (p.Gly3779=)
c.11412G>A (p.Gly3804=)
n.354G>A
c.11409G>A (p.Gly3803=)
c.11334G>A (p.Gly3778=)
c.11034G>A (p.Gly3678=)
c.8298G>A (p.Gly2766=)
c.7191G>A (p.Gly2397=)
c.11217G>A (p.Gly3739=)
c.6969G>A (p.Gly2323=)
c.10197G>A (p.Gly3399=)
8g.99868410G>CCA462339351VPS13Bc.*506G>C (n.*506G>C)
n.11482G>C
c.*7094G>C (n.*7094G>C)
c.11337G>C (p.Gly3779=)
c.11412G>C (p.Gly3804=)
n.354G>C
c.11409G>C (p.Gly3803=)
c.11334G>C (p.Gly3778=)
c.11034G>C (p.Gly3678=)
c.8298G>C (p.Gly2766=)
c.7191G>C (p.Gly2397=)
c.11217G>C (p.Gly3739=)
c.6969G>C (p.Gly2323=)
c.10197G>C (p.Gly3399=)
 ClinVar dbSNP
8g.99868410G>TCA462339353VPS13Bc.*506G>T (n.*506G>T)
n.11482G>T
c.*7094G>T (n.*7094G>T)
c.11337G>T (p.Gly3779=)
c.11412G>T (p.Gly3804=)
n.354G>T
c.11409G>T (p.Gly3803=)
c.11334G>T (p.Gly3778=)
c.11034G>T (p.Gly3678=)
c.8298G>T (p.Gly2766=)
c.7191G>T (p.Gly2397=)
c.11217G>T (p.Gly3739=)
c.6969G>T (p.Gly2323=)
c.10197G>T (p.Gly3399=)
 gnomAD v4
8g.99868411G>ACA371792211VPS13Bc.*507G>A (n.*507G>A)
n.11483G>A
c.*7095G>A (n.*7095G>A)
c.11338G>A (p.Val3780Met)
c.11413G>A (p.Val3805Met)
n.355G>A
c.11410G>A (p.Val3804Met)
c.11335G>A (p.Val3779Met)
c.11035G>A (p.Val3679Met)
c.8299G>A (p.Val2767Met)
c.7192G>A (p.Val2398Met)
c.11218G>A (p.Val3740Met)
c.6970G>A (p.Val2324Met)
c.10198G>A (p.Val3400Met)
 dbSNP
8g.99868411G>CCA371792214VPS13Bc.*507G>C (n.*507G>C)
n.11483G>C
c.*7095G>C (n.*7095G>C)
c.11338G>C (p.Val3780Leu)
c.11413G>C (p.Val3805Leu)
n.355G>C
c.11410G>C (p.Val3804Leu)
c.11335G>C (p.Val3779Leu)
c.11035G>C (p.Val3679Leu)
c.8299G>C (p.Val2767Leu)
c.7192G>C (p.Val2398Leu)
c.11218G>C (p.Val3740Leu)
c.6970G>C (p.Val2324Leu)
c.10198G>C (p.Val3400Leu)
8g.99868411G>TCA4825212VPS13Bc.*507G>T (n.*507G>T)
n.11483G>T
c.*7095G>T (n.*7095G>T)
c.11338G>T (p.Val3780Leu)
c.11413G>T (p.Val3805Leu)
n.355G>T
c.11410G>T (p.Val3804Leu)
c.11335G>T (p.Val3779Leu)
c.11035G>T (p.Val3679Leu)
c.8299G>T (p.Val2767Leu)
c.7192G>T (p.Val2398Leu)
c.11218G>T (p.Val3740Leu)
c.6970G>T (p.Val2324Leu)
c.10198G>T (p.Val3400Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868412T>ACA371792225VPS13Bc.*508T>A (n.*508T>A)
n.11484T>A
c.*7096T>A (n.*7096T>A)
c.11339T>A (p.Val3780Glu)
c.11414T>A (p.Val3805Glu)
n.356T>A
c.11411T>A (p.Val3804Glu)
c.11336T>A (p.Val3779Glu)
c.11036T>A (p.Val3679Glu)
c.8300T>A (p.Val2767Glu)
c.7193T>A (p.Val2398Glu)
c.11219T>A (p.Val3740Glu)
c.6971T>A (p.Val2324Glu)
c.10199T>A (p.Val3400Glu)
8g.99868412T>CCA371792220VPS13Bc.*508T>C (n.*508T>C)
n.11484T>C
c.*7096T>C (n.*7096T>C)
c.11339T>C (p.Val3780Ala)
c.11414T>C (p.Val3805Ala)
n.356T>C
c.11411T>C (p.Val3804Ala)
c.11336T>C (p.Val3779Ala)
c.11036T>C (p.Val3679Ala)
c.8300T>C (p.Val2767Ala)
c.7193T>C (p.Val2398Ala)
c.11219T>C (p.Val3740Ala)
c.6971T>C (p.Val2324Ala)
c.10199T>C (p.Val3400Ala)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.99868412T>GCA371792221VPS13Bc.*508T>G (n.*508T>G)
n.11484T>G
c.*7096T>G (n.*7096T>G)
c.11339T>G (p.Val3780Gly)
c.11414T>G (p.Val3805Gly)
n.356T>G
c.11411T>G (p.Val3804Gly)
c.11336T>G (p.Val3779Gly)
c.11036T>G (p.Val3679Gly)
c.8300T>G (p.Val2767Gly)
c.7193T>G (p.Val2398Gly)
c.11219T>G (p.Val3740Gly)
c.6971T>G (p.Val2324Gly)
c.10199T>G (p.Val3400Gly)
8g.99868413G>ACA462339359VPS13Bc.*509G>A (n.*509G>A)
n.11485G>A
c.*7097G>A (n.*7097G>A)
c.11340G>A (p.Val3780=)
c.11415G>A (p.Val3805=)
n.357G>A
c.11412G>A (p.Val3804=)
c.11337G>A (p.Val3779=)
c.11037G>A (p.Val3679=)
c.8301G>A (p.Val2767=)
c.7194G>A (p.Val2398=)
c.11220G>A (p.Val3740=)
c.6972G>A (p.Val2324=)
c.10200G>A (p.Val3400=)
8g.99868413G>CCA462339360VPS13Bc.*509G>C (n.*509G>C)
n.11485G>C
c.*7097G>C (n.*7097G>C)
c.11340G>C (p.Val3780=)
c.11415G>C (p.Val3805=)
n.357G>C
c.11412G>C (p.Val3804=)
c.11337G>C (p.Val3779=)
c.11037G>C (p.Val3679=)
c.8301G>C (p.Val2767=)
c.7194G>C (p.Val2398=)
c.11220G>C (p.Val3740=)
c.6972G>C (p.Val2324=)
c.10200G>C (p.Val3400=)
8g.99868413G>TCA462339361VPS13Bc.*509G>T (n.*509G>T)
n.11485G>T
c.*7097G>T (n.*7097G>T)
c.11340G>T (p.Val3780=)
c.11415G>T (p.Val3805=)
n.357G>T
c.11412G>T (p.Val3804=)
c.11337G>T (p.Val3779=)
c.11037G>T (p.Val3679=)
c.8301G>T (p.Val2767=)
c.7194G>T (p.Val2398=)
c.11220G>T (p.Val3740=)
c.6972G>T (p.Val2324=)
c.10200G>T (p.Val3400=)
8g.99868414T>ACA371792229VPS13Bc.*510T>A (n.*510T>A)
n.11486T>A
c.*7098T>A (n.*7098T>A)
c.11341T>A (p.Phe3781Ile)
c.11416T>A (p.Phe3806Ile)
n.358T>A
c.11413T>A (p.Phe3805Ile)
c.11338T>A (p.Phe3780Ile)
c.11038T>A (p.Phe3680Ile)
c.8302T>A (p.Phe2768Ile)
c.7195T>A (p.Phe2399Ile)
c.11221T>A (p.Phe3741Ile)
c.6973T>A (p.Phe2325Ile)
c.10201T>A (p.Phe3401Ile)
8g.99868414T>CCA371792232VPS13Bc.*510T>C (n.*510T>C)
n.11486T>C
c.*7098T>C (n.*7098T>C)
c.11341T>C (p.Phe3781Leu)
c.11416T>C (p.Phe3806Leu)
n.358T>C
c.11413T>C (p.Phe3805Leu)
c.11338T>C (p.Phe3780Leu)
c.11038T>C (p.Phe3680Leu)
c.8302T>C (p.Phe2768Leu)
c.7195T>C (p.Phe2399Leu)
c.11221T>C (p.Phe3741Leu)
c.6973T>C (p.Phe2325Leu)
c.10201T>C (p.Phe3401Leu)
 gnomAD v4
8g.99868414T>GCA371792233VPS13Bc.*510T>G (n.*510T>G)
n.11486T>G
c.*7098T>G (n.*7098T>G)
c.11341T>G (p.Phe3781Val)
c.11416T>G (p.Phe3806Val)
n.358T>G
c.11413T>G (p.Phe3805Val)
c.11338T>G (p.Phe3780Val)
c.11038T>G (p.Phe3680Val)
c.8302T>G (p.Phe2768Val)
c.7195T>G (p.Phe2399Val)
c.11221T>G (p.Phe3741Val)
c.6973T>G (p.Phe2325Val)
c.10201T>G (p.Phe3401Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99868415T>ACA371792238VPS13Bc.*511T>A (n.*511T>A)
n.11487T>A
c.*7099T>A (n.*7099T>A)
c.11342T>A (p.Phe3781Tyr)
c.11417T>A (p.Phe3806Tyr)
n.359T>A
c.11414T>A (p.Phe3805Tyr)
c.11339T>A (p.Phe3780Tyr)
c.11039T>A (p.Phe3680Tyr)
c.8303T>A (p.Phe2768Tyr)
c.7196T>A (p.Phe2399Tyr)
c.11222T>A (p.Phe3741Tyr)
c.6974T>A (p.Phe2325Tyr)
c.10202T>A (p.Phe3401Tyr)
8g.99868415T>CCA371792240VPS13Bc.*511T>C (n.*511T>C)
n.11487T>C
c.*7099T>C (n.*7099T>C)
c.11342T>C (p.Phe3781Ser)
c.11417T>C (p.Phe3806Ser)
n.359T>C
c.11414T>C (p.Phe3805Ser)
c.11339T>C (p.Phe3780Ser)
c.11039T>C (p.Phe3680Ser)
c.8303T>C (p.Phe2768Ser)
c.7196T>C (p.Phe2399Ser)
c.11222T>C (p.Phe3741Ser)
c.6974T>C (p.Phe2325Ser)
c.10202T>C (p.Phe3401Ser)
8g.99868415T>GCA371792242VPS13Bc.*511T>G (n.*511T>G)
n.11487T>G
c.*7099T>G (n.*7099T>G)
c.11342T>G (p.Phe3781Cys)
c.11417T>G (p.Phe3806Cys)
n.359T>G
c.11414T>G (p.Phe3805Cys)
c.11339T>G (p.Phe3780Cys)
c.11039T>G (p.Phe3680Cys)
c.8303T>G (p.Phe2768Cys)
c.7196T>G (p.Phe2399Cys)
c.11222T>G (p.Phe3741Cys)
c.6974T>G (p.Phe2325Cys)
c.10202T>G (p.Phe3401Cys)
8g.99868416C>ACA371792249VPS13Bc.*512C>A (n.*512C>A)
n.11488C>A
c.*7100C>A (n.*7100C>A)
c.11343C>A (p.Phe3781Leu)
c.11418C>A (p.Phe3806Leu)
n.360C>A
c.11415C>A (p.Phe3805Leu)
c.11340C>A (p.Phe3780Leu)
c.11040C>A (p.Phe3680Leu)
c.8304C>A (p.Phe2768Leu)
c.7197C>A (p.Phe2399Leu)
c.11223C>A (p.Phe3741Leu)
c.6975C>A (p.Phe2325Leu)
c.10203C>A (p.Phe3401Leu)
8g.99868416C>GCA371792246VPS13Bc.*512C>G (n.*512C>G)
n.11488C>G
c.*7100C>G (n.*7100C>G)
c.11343C>G (p.Phe3781Leu)
c.11418C>G (p.Phe3806Leu)
n.360C>G
c.11415C>G (p.Phe3805Leu)
c.11340C>G (p.Phe3780Leu)
c.11040C>G (p.Phe3680Leu)
c.8304C>G (p.Phe2768Leu)
c.7197C>G (p.Phe2399Leu)
c.11223C>G (p.Phe3741Leu)
c.6975C>G (p.Phe2325Leu)
c.10203C>G (p.Phe3401Leu)
8g.99868416C>TCA462339368VPS13Bc.*512C>T (n.*512C>T)
n.11488C>T
c.*7100C>T (n.*7100C>T)
c.11343C>T (p.Phe3781=)
c.11418C>T (p.Phe3806=)
n.360C>T
c.11415C>T (p.Phe3805=)
c.11340C>T (p.Phe3780=)
c.11040C>T (p.Phe3680=)
c.8304C>T (p.Phe2768=)
c.7197C>T (p.Phe2399=)
c.11223C>T (p.Phe3741=)
c.6975C>T (p.Phe2325=)
c.10203C>T (p.Phe3401=)
8g.99868417A>CCA371792252VPS13Bc.*513A>C (n.*513A>C)
n.11489A>C
c.*7101A>C (n.*7101A>C)
c.11344A>C (p.Thr3782Pro)
c.11419A>C (p.Thr3807Pro)
n.361A>C
c.11416A>C (p.Thr3806Pro)
c.11341A>C (p.Thr3781Pro)
c.11041A>C (p.Thr3681Pro)
c.8305A>C (p.Thr2769Pro)
c.7198A>C (p.Thr2400Pro)
c.11224A>C (p.Thr3742Pro)
c.6976A>C (p.Thr2326Pro)
c.10204A>C (p.Thr3402Pro)
8g.99868417A>GCA371792254VPS13Bc.*513A>G (n.*513A>G)
n.11489A>G
c.*7101A>G (n.*7101A>G)
c.11344A>G (p.Thr3782Ala)
c.11419A>G (p.Thr3807Ala)
n.361A>G
c.11416A>G (p.Thr3806Ala)
c.11341A>G (p.Thr3781Ala)
c.11041A>G (p.Thr3681Ala)
c.8305A>G (p.Thr2769Ala)
c.7198A>G (p.Thr2400Ala)
c.11224A>G (p.Thr3742Ala)
c.6976A>G (p.Thr2326Ala)
c.10204A>G (p.Thr3402Ala)
8g.99868417A>TCA371792259VPS13Bc.*513A>T (n.*513A>T)
n.11489A>T
c.*7101A>T (n.*7101A>T)
c.11344A>T (p.Thr3782Ser)
c.11419A>T (p.Thr3807Ser)
n.361A>T
c.11416A>T (p.Thr3806Ser)
c.11341A>T (p.Thr3781Ser)
c.11041A>T (p.Thr3681Ser)
c.8305A>T (p.Thr2769Ser)
c.7198A>T (p.Thr2400Ser)
c.11224A>T (p.Thr3742Ser)
c.6976A>T (p.Thr2326Ser)
c.10204A>T (p.Thr3402Ser)
8g.99868418C>ACA371792262VPS13Bc.*514C>A (n.*514C>A)
n.11490C>A
c.*7102C>A (n.*7102C>A)
c.11345C>A (p.Thr3782Lys)
c.11420C>A (p.Thr3807Lys)
n.362C>A
c.11417C>A (p.Thr3806Lys)
c.11342C>A (p.Thr3781Lys)
c.11042C>A (p.Thr3681Lys)
c.8306C>A (p.Thr2769Lys)
c.7199C>A (p.Thr2400Lys)
c.11225C>A (p.Thr3742Lys)
c.6977C>A (p.Thr2326Lys)
c.10205C>A (p.Thr3402Lys)
8g.99868418C>GCA371792264VPS13Bc.*514C>G (n.*514C>G)
n.11490C>G
c.*7102C>G (n.*7102C>G)
c.11345C>G (p.Thr3782Arg)
c.11420C>G (p.Thr3807Arg)
n.362C>G
c.11417C>G (p.Thr3806Arg)
c.11342C>G (p.Thr3781Arg)
c.11042C>G (p.Thr3681Arg)
c.8306C>G (p.Thr2769Arg)
c.7199C>G (p.Thr2400Arg)
c.11225C>G (p.Thr3742Arg)
c.6977C>G (p.Thr2326Arg)
c.10205C>G (p.Thr3402Arg)
8g.99868418C>TCA371792266VPS13Bc.*514C>T (n.*514C>T)
n.11490C>T
c.*7102C>T (n.*7102C>T)
c.11345C>T (p.Thr3782Ile)
c.11420C>T (p.Thr3807Ile)
n.362C>T
c.11417C>T (p.Thr3806Ile)
c.11342C>T (p.Thr3781Ile)
c.11042C>T (p.Thr3681Ile)
c.8306C>T (p.Thr2769Ile)
c.7199C>T (p.Thr2400Ile)
c.11225C>T (p.Thr3742Ile)
c.6977C>T (p.Thr2326Ile)
c.10205C>T (p.Thr3402Ile)
8g.99868419A>CCA462339377VPS13Bc.*515A>C (n.*515A>C)
n.11491A>C
c.*7103A>C (n.*7103A>C)
c.11346A>C (p.Thr3782=)
c.11421A>C (p.Thr3807=)
n.363A>C
c.11418A>C (p.Thr3806=)
c.11343A>C (p.Thr3781=)
c.11043A>C (p.Thr3681=)
c.8307A>C (p.Thr2769=)
c.7200A>C (p.Thr2400=)
c.11226A>C (p.Thr3742=)
c.6978A>C (p.Thr2326=)
c.10206A>C (p.Thr3402=)
8g.99868419A>GCA462339375VPS13Bc.*515A>G (n.*515A>G)
n.11491A>G
c.*7103A>G (n.*7103A>G)
c.11346A>G (p.Thr3782=)
c.11421A>G (p.Thr3807=)
n.363A>G
c.11418A>G (p.Thr3806=)
c.11343A>G (p.Thr3781=)
c.11043A>G (p.Thr3681=)
c.8307A>G (p.Thr2769=)
c.7200A>G (p.Thr2400=)
c.11226A>G (p.Thr3742=)
c.6978A>G (p.Thr2326=)
c.10206A>G (p.Thr3402=)
8g.99868419A>TCA462339374VPS13Bc.*515A>T (n.*515A>T)
n.11491A>T
c.*7103A>T (n.*7103A>T)
c.11346A>T (p.Thr3782=)
c.11421A>T (p.Thr3807=)
n.363A>T
c.11418A>T (p.Thr3806=)
c.11343A>T (p.Thr3781=)
c.11043A>T (p.Thr3681=)
c.8307A>T (p.Thr2769=)
c.7200A>T (p.Thr2400=)
c.11226A>T (p.Thr3742=)
c.6978A>T (p.Thr2326=)
c.10206A>T (p.Thr3402=)
8g.99868420A>CCA371792270VPS13Bc.*516A>C (n.*516A>C)
n.11492A>C
c.*7104A>C (n.*7104A>C)
c.11347A>C (p.Lys3783Gln)
c.11422A>C (p.Lys3808Gln)
n.364A>C
c.11419A>C (p.Lys3807Gln)
c.11344A>C (p.Lys3782Gln)
c.11044A>C (p.Lys3682Gln)
c.8308A>C (p.Lys2770Gln)
c.7201A>C (p.Lys2401Gln)
c.11227A>C (p.Lys3743Gln)
c.6979A>C (p.Lys2327Gln)
c.10207A>C (p.Lys3403Gln)
8g.99868420A>GCA371792275VPS13Bc.*516A>G (n.*516A>G)
n.11492A>G
c.*7104A>G (n.*7104A>G)
c.11347A>G (p.Lys3783Glu)
c.11422A>G (p.Lys3808Glu)
n.364A>G
c.11419A>G (p.Lys3807Glu)
c.11344A>G (p.Lys3782Glu)
c.11044A>G (p.Lys3682Glu)
c.8308A>G (p.Lys2770Glu)
c.7201A>G (p.Lys2401Glu)
c.11227A>G (p.Lys3743Glu)
c.6979A>G (p.Lys2327Glu)
c.10207A>G (p.Lys3403Glu)
8g.99868420A>TCA371792272VPS13Bc.*516A>T (n.*516A>T)
n.11492A>T
c.*7104A>T (n.*7104A>T)
c.11347A>T (p.Lys3783Ter)
c.11422A>T (p.Lys3808Ter)
n.364A>T
c.11419A>T (p.Lys3807Ter)
c.11344A>T (p.Lys3782Ter)
c.11044A>T (p.Lys3682Ter)
c.8308A>T (p.Lys2770Ter)
c.7201A>T (p.Lys2401Ter)
c.11227A>T (p.Lys3743Ter)
c.6979A>T (p.Lys2327Ter)
c.10207A>T (p.Lys3403Ter)
8g.99868421A>CCA371792279VPS13Bc.*517A>C (n.*517A>C)
n.11493A>C
c.*7105A>C (n.*7105A>C)
c.11348A>C (p.Lys3783Thr)
c.11423A>C (p.Lys3808Thr)
n.365A>C
c.11420A>C (p.Lys3807Thr)
c.11345A>C (p.Lys3782Thr)
c.11045A>C (p.Lys3682Thr)
c.8309A>C (p.Lys2770Thr)
c.7202A>C (p.Lys2401Thr)
c.11228A>C (p.Lys3743Thr)
c.6980A>C (p.Lys2327Thr)
c.10208A>C (p.Lys3403Thr)
 gnomAD v4
8g.99868421A>GCA371792281VPS13Bc.*517A>G (n.*517A>G)
n.11493A>G
c.*7105A>G (n.*7105A>G)
c.11348A>G (p.Lys3783Arg)
c.11423A>G (p.Lys3808Arg)
n.365A>G
c.11420A>G (p.Lys3807Arg)
c.11345A>G (p.Lys3782Arg)
c.11045A>G (p.Lys3682Arg)
c.8309A>G (p.Lys2770Arg)
c.7202A>G (p.Lys2401Arg)
c.11228A>G (p.Lys3743Arg)
c.6980A>G (p.Lys2327Arg)
c.10208A>G (p.Lys3403Arg)
8g.99868421A>TCA371792283VPS13Bc.*517A>T (n.*517A>T)
n.11493A>T
c.*7105A>T (n.*7105A>T)
c.11348A>T (p.Lys3783Met)
c.11423A>T (p.Lys3808Met)
n.365A>T
c.11420A>T (p.Lys3807Met)
c.11345A>T (p.Lys3782Met)
c.11045A>T (p.Lys3682Met)
c.8309A>T (p.Lys2770Met)
c.7202A>T (p.Lys2401Met)
c.11228A>T (p.Lys3743Met)
c.6980A>T (p.Lys2327Met)
c.10208A>T (p.Lys3403Met)
8g.99868422G>ACA462339386VPS13Bc.*518G>A (n.*518G>A)
n.11494G>A
c.*7106G>A (n.*7106G>A)
c.11349G>A (p.Lys3783=)
c.11424G>A (p.Lys3808=)
n.366G>A
c.11421G>A (p.Lys3807=)
c.11346G>A (p.Lys3782=)
c.11046G>A (p.Lys3682=)
c.8310G>A (p.Lys2770=)
c.7203G>A (p.Lys2401=)
c.11229G>A (p.Lys3743=)
c.6981G>A (p.Lys2327=)
c.10209G>A (p.Lys3403=)
8g.99868422G>CCA371792287VPS13Bc.*518G>C (n.*518G>C)
n.11494G>C
c.*7106G>C (n.*7106G>C)
c.11349G>C (p.Lys3783Asn)
c.11424G>C (p.Lys3808Asn)
n.366G>C
c.11421G>C (p.Lys3807Asn)
c.11346G>C (p.Lys3782Asn)
c.11046G>C (p.Lys3682Asn)
c.8310G>C (p.Lys2770Asn)
c.7203G>C (p.Lys2401Asn)
c.11229G>C (p.Lys3743Asn)
c.6981G>C (p.Lys2327Asn)
c.10209G>C (p.Lys3403Asn)
8g.99868422G>TCA371792289VPS13Bc.*518G>T (n.*518G>T)
n.11494G>T
c.*7106G>T (n.*7106G>T)
c.11349G>T (p.Lys3783Asn)
c.11424G>T (p.Lys3808Asn)
n.366G>T
c.11421G>T (p.Lys3807Asn)
c.11346G>T (p.Lys3782Asn)
c.11046G>T (p.Lys3682Asn)
c.8310G>T (p.Lys2770Asn)
c.7203G>T (p.Lys2401Asn)
c.11229G>T (p.Lys3743Asn)
c.6981G>T (p.Lys2327Asn)
c.10209G>T (p.Lys3403Asn)
 dbSNP
8g.99868423C>ACA371792290VPS13Bc.*519C>A (n.*519C>A)
n.11495C>A
c.*7107C>A (n.*7107C>A)
c.11350C>A (p.Pro3784Thr)
c.11425C>A (p.Pro3809Thr)
n.367C>A
c.11422C>A (p.Pro3808Thr)
c.11347C>A (p.Pro3783Thr)
c.11047C>A (p.Pro3683Thr)
c.8311C>A (p.Pro2771Thr)
c.7204C>A (p.Pro2402Thr)
c.11230C>A (p.Pro3744Thr)
c.6982C>A (p.Pro2328Thr)
c.10210C>A (p.Pro3404Thr)
 gnomAD v4
8g.99868423C>GCA371792292VPS13Bc.*519C>G (n.*519C>G)
n.11495C>G
c.*7107C>G (n.*7107C>G)
c.11350C>G (p.Pro3784Ala)
c.11425C>G (p.Pro3809Ala)
n.367C>G
c.11422C>G (p.Pro3808Ala)
c.11347C>G (p.Pro3783Ala)
c.11047C>G (p.Pro3683Ala)
c.8311C>G (p.Pro2771Ala)
c.7204C>G (p.Pro2402Ala)
c.11230C>G (p.Pro3744Ala)
c.6982C>G (p.Pro2328Ala)
c.10210C>G (p.Pro3404Ala)
8g.99868423C>TCA371792294VPS13Bc.*519C>T (n.*519C>T)
n.11495C>T
c.*7107C>T (n.*7107C>T)
c.11350C>T (p.Pro3784Ser)
c.11425C>T (p.Pro3809Ser)
n.367C>T
c.11422C>T (p.Pro3808Ser)
c.11347C>T (p.Pro3783Ser)
c.11047C>T (p.Pro3683Ser)
c.8311C>T (p.Pro2771Ser)
c.7204C>T (p.Pro2402Ser)
c.11230C>T (p.Pro3744Ser)
c.6982C>T (p.Pro2328Ser)
c.10210C>T (p.Pro3404Ser)
8g.99868425dupCA2697550081VPS13Bc.*521dup (n.*521dup)
n.11497dup
c.*7109dup (n.*7109dup)
c.11352dup (p.Ile3785HisfsTer6)
c.11427dup (p.Ile3810HisfsTer6)
n.369dup
c.11424dup (p.Ile3809HisfsTer6)
c.11349dup (p.Ile3784HisfsTer6)
c.11049dup (p.Ile3684HisfsTer6)
c.8313dup (p.Ile2772HisfsTer6)
c.7206dup (p.Ile2403HisfsTer6)
c.11232dup (p.Ile3745HisfsTer6)
c.6984dup (p.Ile2329HisfsTer6)
c.10212dup (p.Ile3405HisfsTer6)
 ClinVar
8g.99868424C>ACA371792296VPS13Bc.*520C>A (n.*520C>A)
n.11496C>A
c.*7108C>A (n.*7108C>A)
c.11351C>A (p.Pro3784His)
c.11426C>A (p.Pro3809His)
n.368C>A
c.11423C>A (p.Pro3808His)
c.11348C>A (p.Pro3783His)
c.11048C>A (p.Pro3683His)
c.8312C>A (p.Pro2771His)
c.7205C>A (p.Pro2402His)
c.11231C>A (p.Pro3744His)
c.6983C>A (p.Pro2328His)
c.10211C>A (p.Pro3404His)
8g.99868424C>GCA371792299VPS13Bc.*520C>G (n.*520C>G)
n.11496C>G
c.*7108C>G (n.*7108C>G)
c.11351C>G (p.Pro3784Arg)
c.11426C>G (p.Pro3809Arg)
n.368C>G
c.11423C>G (p.Pro3808Arg)
c.11348C>G (p.Pro3783Arg)
c.11048C>G (p.Pro3683Arg)
c.8312C>G (p.Pro2771Arg)
c.7205C>G (p.Pro2402Arg)
c.11231C>G (p.Pro3744Arg)
c.6983C>G (p.Pro2328Arg)
c.10211C>G (p.Pro3404Arg)
8g.99868424C>TCA182328694VPS13Bc.*520C>T (n.*520C>T)
n.11496C>T
c.*7108C>T (n.*7108C>T)
c.11351C>T (p.Pro3784Leu)
c.11426C>T (p.Pro3809Leu)
n.368C>T
c.11423C>T (p.Pro3808Leu)
c.11348C>T (p.Pro3783Leu)
c.11048C>T (p.Pro3683Leu)
c.8312C>T (p.Pro2771Leu)
c.7205C>T (p.Pro2402Leu)
c.11231C>T (p.Pro3744Leu)
c.6983C>T (p.Pro2328Leu)
c.10211C>T (p.Pro3404Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99868425C>ACA462339394VPS13Bc.*521C>A (n.*521C>A)
n.11497C>A
c.*7109C>A (n.*7109C>A)
c.11352C>A (p.Pro3784=)
c.11427C>A (p.Pro3809=)
n.369C>A
c.11424C>A (p.Pro3808=)
c.11349C>A (p.Pro3783=)
c.11049C>A (p.Pro3683=)
c.8313C>A (p.Pro2771=)
c.7206C>A (p.Pro2402=)
c.11232C>A (p.Pro3744=)
c.6984C>A (p.Pro2328=)
c.10212C>A (p.Pro3404=)
8g.99868425C>GCA462339396VPS13Bc.*521C>G (n.*521C>G)
n.11497C>G
c.*7109C>G (n.*7109C>G)
c.11352C>G (p.Pro3784=)
c.11427C>G (p.Pro3809=)
n.369C>G
c.11424C>G (p.Pro3808=)
c.11349C>G (p.Pro3783=)
c.11049C>G (p.Pro3683=)
c.8313C>G (p.Pro2771=)
c.7206C>G (p.Pro2402=)
c.11232C>G (p.Pro3744=)
c.6984C>G (p.Pro2328=)
c.10212C>G (p.Pro3404=)
8g.99868425C>TCA462339397VPS13Bc.*521C>T (n.*521C>T)
n.11497C>T
c.*7109C>T (n.*7109C>T)
c.11352C>T (p.Pro3784=)
c.11427C>T (p.Pro3809=)
n.369C>T
c.11424C>T (p.Pro3808=)
c.11349C>T (p.Pro3783=)
c.11049C>T (p.Pro3683=)
c.8313C>T (p.Pro2771=)
c.7206C>T (p.Pro2402=)
c.11232C>T (p.Pro3744=)
c.6984C>T (p.Pro2328=)
c.10212C>T (p.Pro3404=)
8g.99868426A>CCA371792305VPS13Bc.*522A>C (n.*522A>C)
n.11498A>C
c.*7110A>C (n.*7110A>C)
c.11353A>C (p.Ile3785Leu)
c.11428A>C (p.Ile3810Leu)
n.370A>C
c.11425A>C (p.Ile3809Leu)
c.11350A>C (p.Ile3784Leu)
c.11050A>C (p.Ile3684Leu)
c.8314A>C (p.Ile2772Leu)
c.7207A>C (p.Ile2403Leu)
c.11233A>C (p.Ile3745Leu)
c.6985A>C (p.Ile2329Leu)
c.10213A>C (p.Ile3405Leu)
8g.99868426A>GCA371792310VPS13Bc.*522A>G (n.*522A>G)
n.11498A>G
c.*7110A>G (n.*7110A>G)
c.11353A>G (p.Ile3785Val)
c.11428A>G (p.Ile3810Val)
n.370A>G
c.11425A>G (p.Ile3809Val)
c.11350A>G (p.Ile3784Val)
c.11050A>G (p.Ile3684Val)
c.8314A>G (p.Ile2772Val)
c.7207A>G (p.Ile2403Val)
c.11233A>G (p.Ile3745Val)
c.6985A>G (p.Ile2329Val)
c.10213A>G (p.Ile3405Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99868426A>TCA371792307VPS13Bc.*522A>T (n.*522A>T)
n.11498A>T
c.*7110A>T (n.*7110A>T)
c.11353A>T (p.Ile3785Phe)
c.11428A>T (p.Ile3810Phe)
n.370A>T
c.11425A>T (p.Ile3809Phe)
c.11350A>T (p.Ile3784Phe)
c.11050A>T (p.Ile3684Phe)
c.8314A>T (p.Ile2772Phe)
c.7207A>T (p.Ile2403Phe)
c.11233A>T (p.Ile3745Phe)
c.6985A>T (p.Ile2329Phe)
c.10213A>T (p.Ile3405Phe)
8g.99868427T>ACA371792312VPS13Bc.*523T>A (n.*523T>A)
n.11499T>A
c.*7111T>A (n.*7111T>A)
c.11354T>A (p.Ile3785Asn)
c.11429T>A (p.Ile3810Asn)
n.371T>A
c.11426T>A (p.Ile3809Asn)
c.11351T>A (p.Ile3784Asn)
c.11051T>A (p.Ile3684Asn)
c.8315T>A (p.Ile2772Asn)
c.7208T>A (p.Ile2403Asn)
c.11234T>A (p.Ile3745Asn)
c.6986T>A (p.Ile2329Asn)
c.10214T>A (p.Ile3405Asn)
8g.99868427T>CCA371792316VPS13Bc.*523T>C (n.*523T>C)
n.11499T>C
c.*7111T>C (n.*7111T>C)
c.11354T>C (p.Ile3785Thr)
c.11429T>C (p.Ile3810Thr)
n.371T>C
c.11426T>C (p.Ile3809Thr)
c.11351T>C (p.Ile3784Thr)
c.11051T>C (p.Ile3684Thr)
c.8315T>C (p.Ile2772Thr)
c.7208T>C (p.Ile2403Thr)
c.11234T>C (p.Ile3745Thr)
c.6986T>C (p.Ile2329Thr)
c.10214T>C (p.Ile3405Thr)
 gnomAD v4
8g.99868427T>GCA371792314VPS13Bc.*523T>G (n.*523T>G)
n.11499T>G
c.*7111T>G (n.*7111T>G)
c.11354T>G (p.Ile3785Ser)
c.11429T>G (p.Ile3810Ser)
n.371T>G
c.11426T>G (p.Ile3809Ser)
c.11351T>G (p.Ile3784Ser)
c.11051T>G (p.Ile3684Ser)
c.8315T>G (p.Ile2772Ser)
c.7208T>G (p.Ile2403Ser)
c.11234T>G (p.Ile3745Ser)
c.6986T>G (p.Ile2329Ser)
c.10214T>G (p.Ile3405Ser)
8g.99868428C>ACA462339401VPS13Bc.*524C>A (n.*524C>A)
n.11500C>A
c.*7112C>A (n.*7112C>A)
c.11355C>A (p.Ile3785=)
c.11430C>A (p.Ile3810=)
n.372C>A
c.11427C>A (p.Ile3809=)
c.11352C>A (p.Ile3784=)
c.11052C>A (p.Ile3684=)
c.8316C>A (p.Ile2772=)
c.7209C>A (p.Ile2403=)
c.11235C>A (p.Ile3745=)
c.6987C>A (p.Ile2329=)
c.10215C>A (p.Ile3405=)
 ClinVar
8g.99868428C>GCA371792320VPS13Bc.*524C>G (n.*524C>G)
n.11500C>G
c.*7112C>G (n.*7112C>G)
c.11355C>G (p.Ile3785Met)
c.11430C>G (p.Ile3810Met)
n.372C>G
c.11427C>G (p.Ile3809Met)
c.11352C>G (p.Ile3784Met)
c.11052C>G (p.Ile3684Met)
c.8316C>G (p.Ile2772Met)
c.7209C>G (p.Ile2403Met)
c.11235C>G (p.Ile3745Met)
c.6987C>G (p.Ile2329Met)
c.10215C>G (p.Ile3405Met)
 dbSNP gnomAD v2 gnomAD v4
8g.99868428C>TCA182328695VPS13Bc.*524C>T (n.*524C>T)
n.11500C>T
c.*7112C>T (n.*7112C>T)
c.11355C>T (p.Ile3785=)
c.11430C>T (p.Ile3810=)
n.372C>T
c.11427C>T (p.Ile3809=)
c.11352C>T (p.Ile3784=)
c.11052C>T (p.Ile3684=)
c.8316C>T (p.Ile2772=)
c.7209C>T (p.Ile2403=)
c.11235C>T (p.Ile3745=)
c.6987C>T (p.Ile2329=)
c.10215C>T (p.Ile3405=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99868429G>ACA4825213VPS13Bc.*525G>A (n.*525G>A)
n.11501G>A
c.*7113G>A (n.*7113G>A)
c.11356G>A (p.Gly3786Arg)
c.11431G>A (p.Gly3811Arg)
n.373G>A
c.11428G>A (p.Gly3810Arg)
c.11353G>A (p.Gly3785Arg)
c.11053G>A (p.Gly3685Arg)
c.8317G>A (p.Gly2773Arg)
c.7210G>A (p.Gly2404Arg)
c.11236G>A (p.Gly3746Arg)
c.6988G>A (p.Gly2330Arg)
c.10216G>A (p.Gly3406Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868429G>CCA371792326VPS13Bc.*525G>C (n.*525G>C)
n.11501G>C
c.*7113G>C (n.*7113G>C)
c.11356G>C (p.Gly3786Arg)
c.11431G>C (p.Gly3811Arg)
n.373G>C
c.11428G>C (p.Gly3810Arg)
c.11353G>C (p.Gly3785Arg)
c.11053G>C (p.Gly3685Arg)
c.8317G>C (p.Gly2773Arg)
c.7210G>C (p.Gly2404Arg)
c.11236G>C (p.Gly3746Arg)
c.6988G>C (p.Gly2330Arg)
c.10216G>C (p.Gly3406Arg)
8g.99868429G>TCA371792331VPS13Bc.*525G>T (n.*525G>T)
n.11501G>T
c.*7113G>T (n.*7113G>T)
c.11356G>T (p.Gly3786Ter)
c.11431G>T (p.Gly3811Ter)
n.373G>T
c.11428G>T (p.Gly3810Ter)
c.11353G>T (p.Gly3785Ter)
c.11053G>T (p.Gly3685Ter)
c.8317G>T (p.Gly2773Ter)
c.7210G>T (p.Gly2404Ter)
c.11236G>T (p.Gly3746Ter)
c.6988G>T (p.Gly2330Ter)
c.10216G>T (p.Gly3406Ter)
8g.99868430G>ACA371792345VPS13Bc.*526G>A (n.*526G>A)
n.11502G>A
c.*7114G>A (n.*7114G>A)
c.11357G>A (p.Gly3786Glu)
c.11432G>A (p.Gly3811Glu)
n.374G>A
c.11429G>A (p.Gly3810Glu)
c.11354G>A (p.Gly3785Glu)
c.11054G>A (p.Gly3685Glu)
c.8318G>A (p.Gly2773Glu)
c.7211G>A (p.Gly2404Glu)
c.11237G>A (p.Gly3746Glu)
c.6989G>A (p.Gly2330Glu)
c.10217G>A (p.Gly3406Glu)
8g.99868430G>CCA371792347VPS13Bc.*526G>C (n.*526G>C)
n.11502G>C
c.*7114G>C (n.*7114G>C)
c.11357G>C (p.Gly3786Ala)
c.11432G>C (p.Gly3811Ala)
n.374G>C
c.11429G>C (p.Gly3810Ala)
c.11354G>C (p.Gly3785Ala)
c.11054G>C (p.Gly3685Ala)
c.8318G>C (p.Gly2773Ala)
c.7211G>C (p.Gly2404Ala)
c.11237G>C (p.Gly3746Ala)
c.6989G>C (p.Gly2330Ala)
c.10217G>C (p.Gly3406Ala)
 dbSNP
8g.99868430G>TCA371792348VPS13Bc.*526G>T (n.*526G>T)
n.11502G>T
c.*7114G>T (n.*7114G>T)
c.11357G>T (p.Gly3786Val)
c.11432G>T (p.Gly3811Val)
n.374G>T
c.11429G>T (p.Gly3810Val)
c.11354G>T (p.Gly3785Val)
c.11054G>T (p.Gly3685Val)
c.8318G>T (p.Gly2773Val)
c.7211G>T (p.Gly2404Val)
c.11237G>T (p.Gly3746Val)
c.6989G>T (p.Gly2330Val)
c.10217G>T (p.Gly3406Val)
8g.99868431_99868432delCA913128149VPS13Bc.*527_*528del (n.*527_*528del)
n.11503_11504del
c.*7115_*7116del (n.*7115_*7116del)
c.11358_11359del (p.Gly3787SerfsTer3)
c.11433_11434del (p.Gly3812SerfsTer3)
n.375_376del
c.11430_11431del (p.Gly3811SerfsTer3)
c.11355_11356del (p.Gly3786SerfsTer3)
c.11055_11056del (p.Gly3686SerfsTer3)
c.8319_8320del (p.Gly2774SerfsTer3)
c.7212_7213del (p.Gly2405SerfsTer3)
c.11238_11239del (p.Gly3747SerfsTer3)
c.6990_6991del (p.Gly2331SerfsTer3)
c.10218_10219del (p.Gly3407SerfsTer3)
8g.99868431A>CCA462339405VPS13Bc.*527A>C (n.*527A>C)
n.11503A>C
c.*7115A>C (n.*7115A>C)
c.11358A>C (p.Gly3786=)
c.11433A>C (p.Gly3811=)
n.375A>C
c.11430A>C (p.Gly3810=)
c.11355A>C (p.Gly3785=)
c.11055A>C (p.Gly3685=)
c.8319A>C (p.Gly2773=)
c.7212A>C (p.Gly2404=)
c.11238A>C (p.Gly3746=)
c.6990A>C (p.Gly2330=)
c.10218A>C (p.Gly3406=)
8g.99868431A>GCA462339406VPS13Bc.*527A>G (n.*527A>G)
n.11503A>G
c.*7115A>G (n.*7115A>G)
c.11358A>G (p.Gly3786=)
c.11433A>G (p.Gly3811=)
n.375A>G
c.11430A>G (p.Gly3810=)
c.11355A>G (p.Gly3785=)
c.11055A>G (p.Gly3685=)
c.8319A>G (p.Gly2773=)
c.7212A>G (p.Gly2404=)
c.11238A>G (p.Gly3746=)
c.6990A>G (p.Gly2330=)
c.10218A>G (p.Gly3406=)
8g.99868431A>TCA462339407VPS13Bc.*527A>T (n.*527A>T)
n.11503A>T
c.*7115A>T (n.*7115A>T)
c.11358A>T (p.Gly3786=)
c.11433A>T (p.Gly3811=)
n.375A>T
c.11430A>T (p.Gly3810=)
c.11355A>T (p.Gly3785=)
c.11055A>T (p.Gly3685=)
c.8319A>T (p.Gly2773=)
c.7212A>T (p.Gly2404=)
c.11238A>T (p.Gly3746=)
c.6990A>T (p.Gly2330=)
c.10218A>T (p.Gly3406=)
8g.99868432G>ACA371792352VPS13Bc.*528G>A (n.*528G>A)
n.11504G>A
c.*7116G>A (n.*7116G>A)
c.11359G>A (p.Gly3787Arg)
c.11434G>A (p.Gly3812Arg)
n.376G>A
c.11431G>A (p.Gly3811Arg)
c.11356G>A (p.Gly3786Arg)
c.11056G>A (p.Gly3686Arg)
c.8320G>A (p.Gly2774Arg)
c.7213G>A (p.Gly2405Arg)
c.11239G>A (p.Gly3747Arg)
c.6991G>A (p.Gly2331Arg)
c.10219G>A (p.Gly3407Arg)
8g.99868432G>CCA371792355VPS13Bc.*528G>C (n.*528G>C)
n.11504G>C
c.*7116G>C (n.*7116G>C)
c.11359G>C (p.Gly3787Arg)
c.11434G>C (p.Gly3812Arg)
n.376G>C
c.11431G>C (p.Gly3811Arg)
c.11356G>C (p.Gly3786Arg)
c.11056G>C (p.Gly3686Arg)
c.8320G>C (p.Gly2774Arg)
c.7213G>C (p.Gly2405Arg)
c.11239G>C (p.Gly3747Arg)
c.6991G>C (p.Gly2331Arg)
c.10219G>C (p.Gly3407Arg)
8g.99868432G>TCA371792357VPS13Bc.*528G>T (n.*528G>T)
n.11504G>T
c.*7116G>T (n.*7116G>T)
c.11359G>T (p.Gly3787Ter)
c.11434G>T (p.Gly3812Ter)
n.376G>T
c.11431G>T (p.Gly3811Ter)
c.11356G>T (p.Gly3786Ter)
c.11056G>T (p.Gly3686Ter)
c.8320G>T (p.Gly2774Ter)
c.7213G>T (p.Gly2405Ter)
c.11239G>T (p.Gly3747Ter)
c.6991G>T (p.Gly2331Ter)
c.10219G>T (p.Gly3407Ter)
8g.99868433delCA658821919VPS13Bc.*529del (n.*529del)
n.11505del
c.*7117del (n.*7117del)
c.11360del (p.Gly3787GlufsTer?)
c.11435del (p.Gly3812GlufsTer?)
n.377del
c.11432del (p.Gly3811GlufsTer?)
c.11357del (p.Gly3786GlufsTer?)
c.11057del (p.Gly3686GlufsTer?)
c.8321del (p.Gly2774GlufsTer?)
c.7214del (p.Gly2405GlufsTer?)
c.11240del (p.Gly3747GlufsTer?)
c.6992del (p.Gly2331GlufsTer?)
c.10220del (p.Gly3407GlufsTer?)
 ClinVar dbSNP
8g.99868433G>ACA182328697VPS13Bc.*529G>A (n.*529G>A)
n.11505G>A
c.*7117G>A (n.*7117G>A)
c.11360G>A (p.Gly3787Glu)
c.11435G>A (p.Gly3812Glu)
n.377G>A
c.11432G>A (p.Gly3811Glu)
c.11357G>A (p.Gly3786Glu)
c.11057G>A (p.Gly3686Glu)
c.8321G>A (p.Gly2774Glu)
c.7214G>A (p.Gly2405Glu)
c.11240G>A (p.Gly3747Glu)
c.6992G>A (p.Gly2331Glu)
c.10220G>A (p.Gly3407Glu)
 ClinVar dbSNP COSMIC COSMIC
8g.99868433G>CCA371792360VPS13Bc.*529G>C (n.*529G>C)
n.11505G>C
c.*7117G>C (n.*7117G>C)
c.11360G>C (p.Gly3787Ala)
c.11435G>C (p.Gly3812Ala)
n.377G>C
c.11432G>C (p.Gly3811Ala)
c.11357G>C (p.Gly3786Ala)
c.11057G>C (p.Gly3686Ala)
c.8321G>C (p.Gly2774Ala)
c.7214G>C (p.Gly2405Ala)
c.11240G>C (p.Gly3747Ala)
c.6992G>C (p.Gly2331Ala)
c.10220G>C (p.Gly3407Ala)
8g.99868433G>TCA371792359VPS13Bc.*529G>T (n.*529G>T)
n.11505G>T
c.*7117G>T (n.*7117G>T)
c.11360G>T (p.Gly3787Val)
c.11435G>T (p.Gly3812Val)
n.377G>T
c.11432G>T (p.Gly3811Val)
c.11357G>T (p.Gly3786Val)
c.11057G>T (p.Gly3686Val)
c.8321G>T (p.Gly2774Val)
c.7214G>T (p.Gly2405Val)
c.11240G>T (p.Gly3747Val)
c.6992G>T (p.Gly2331Val)
c.10220G>T (p.Gly3407Val)
8g.99868434A>CCA462339409VPS13Bc.*530A>C (n.*530A>C)
n.11506A>C
c.*7118A>C (n.*7118A>C)
c.11361A>C (p.Gly3787=)
c.11436A>C (p.Gly3812=)
n.378A>C
c.11433A>C (p.Gly3811=)
c.11358A>C (p.Gly3786=)
c.11058A>C (p.Gly3686=)
c.8322A>C (p.Gly2774=)
c.7215A>C (p.Gly2405=)
c.11241A>C (p.Gly3747=)
c.6993A>C (p.Gly2331=)
c.10221A>C (p.Gly3407=)
 gnomAD v4
8g.99868434A>GCA462339410VPS13Bc.*530A>G (n.*530A>G)
n.11506A>G
c.*7118A>G (n.*7118A>G)
c.11361A>G (p.Gly3787=)
c.11436A>G (p.Gly3812=)
n.378A>G
c.11433A>G (p.Gly3811=)
c.11358A>G (p.Gly3786=)
c.11058A>G (p.Gly3686=)
c.8322A>G (p.Gly2774=)
c.7215A>G (p.Gly2405=)
c.11241A>G (p.Gly3747=)
c.6993A>G (p.Gly2331=)
c.10221A>G (p.Gly3407=)
 dbSNP gnomAD v3 gnomAD v4
8g.99868434A>TCA462339411VPS13Bc.*530A>T (n.*530A>T)
n.11506A>T
c.*7118A>T (n.*7118A>T)
c.11361A>T (p.Gly3787=)
c.11436A>T (p.Gly3812=)
n.378A>T
c.11433A>T (p.Gly3811=)
c.11358A>T (p.Gly3786=)
c.11058A>T (p.Gly3686=)
c.8322A>T (p.Gly2774=)
c.7215A>T (p.Gly2405=)
c.11241A>T (p.Gly3747=)
c.6993A>T (p.Gly2331=)
c.10221A>T (p.Gly3407=)
8g.99868435G>ACA4825214VPS13Bc.*531G>A (n.*531G>A)
n.11507G>A
c.*7119G>A (n.*7119G>A)
c.11362G>A (p.Ala3788Thr)
c.11437G>A (p.Ala3813Thr)
n.379G>A
c.11434G>A (p.Ala3812Thr)
c.11359G>A (p.Ala3787Thr)
c.11059G>A (p.Ala3687Thr)
c.8323G>A (p.Ala2775Thr)
c.7216G>A (p.Ala2406Thr)
c.11242G>A (p.Ala3748Thr)
c.6994G>A (p.Ala2332Thr)
c.10222G>A (p.Ala3408Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868435G>CCA371792366VPS13Bc.*531G>C (n.*531G>C)
n.11507G>C
c.*7119G>C (n.*7119G>C)
c.11362G>C (p.Ala3788Pro)
c.11437G>C (p.Ala3813Pro)
n.379G>C
c.11434G>C (p.Ala3812Pro)
c.11359G>C (p.Ala3787Pro)
c.11059G>C (p.Ala3687Pro)
c.8323G>C (p.Ala2775Pro)
c.7216G>C (p.Ala2406Pro)
c.11242G>C (p.Ala3748Pro)
c.6994G>C (p.Ala2332Pro)
c.10222G>C (p.Ala3408Pro)
8g.99868435G>TCA371792368VPS13Bc.*531G>T (n.*531G>T)
n.11507G>T
c.*7119G>T (n.*7119G>T)
c.11362G>T (p.Ala3788Ser)
c.11437G>T (p.Ala3813Ser)
n.379G>T
c.11434G>T (p.Ala3812Ser)
c.11359G>T (p.Ala3787Ser)
c.11059G>T (p.Ala3687Ser)
c.8323G>T (p.Ala2775Ser)
c.7216G>T (p.Ala2406Ser)
c.11242G>T (p.Ala3748Ser)
c.6994G>T (p.Ala2332Ser)
c.10222G>T (p.Ala3408Ser)
8g.99868436C>ACA371792371VPS13Bc.*532C>A (n.*532C>A)
n.11508C>A
c.*7120C>A (n.*7120C>A)
c.11363C>A (p.Ala3788Asp)
c.11438C>A (p.Ala3813Asp)
n.380C>A
c.11435C>A (p.Ala3812Asp)
c.11360C>A (p.Ala3787Asp)
c.11060C>A (p.Ala3687Asp)
c.8324C>A (p.Ala2775Asp)
c.7217C>A (p.Ala2406Asp)
c.11243C>A (p.Ala3748Asp)
c.6995C>A (p.Ala2332Asp)
c.10223C>A (p.Ala3408Asp)
8g.99868436C>GCA371792373VPS13Bc.*532C>G (n.*532C>G)
n.11508C>G
c.*7120C>G (n.*7120C>G)
c.11363C>G (p.Ala3788Gly)
c.11438C>G (p.Ala3813Gly)
n.380C>G
c.11435C>G (p.Ala3812Gly)
c.11360C>G (p.Ala3787Gly)
c.11060C>G (p.Ala3687Gly)
c.8324C>G (p.Ala2775Gly)
c.7217C>G (p.Ala2406Gly)
c.11243C>G (p.Ala3748Gly)
c.6995C>G (p.Ala2332Gly)
c.10223C>G (p.Ala3408Gly)
8g.99868436C>TCA371792374VPS13Bc.*532C>T (n.*532C>T)
n.11508C>T
c.*7120C>T (n.*7120C>T)
c.11363C>T (p.Ala3788Val)
c.11438C>T (p.Ala3813Val)
n.380C>T
c.11435C>T (p.Ala3812Val)
c.11360C>T (p.Ala3787Val)
c.11060C>T (p.Ala3687Val)
c.8324C>T (p.Ala2775Val)
c.7217C>T (p.Ala2406Val)
c.11243C>T (p.Ala3748Val)
c.6995C>T (p.Ala2332Val)
c.10223C>T (p.Ala3408Val)
 gnomAD v4
8g.99868437delCA857608643VPS13Bc.*533del (n.*533del)
n.11509del
c.*7121del (n.*7121del)
c.11364del (p.Ala3789LeufsTer?)
c.11439del (p.Ala3814LeufsTer?)
n.381del
c.11436del (p.Ala3813LeufsTer?)
c.11361del (p.Ala3788LeufsTer?)
c.11061del (p.Ala3688LeufsTer?)
c.8325del (p.Ala2776LeufsTer?)
c.7218del (p.Ala2407LeufsTer?)
c.11244del (p.Ala3749LeufsTer?)
c.6996del (p.Ala2333LeufsTer?)
c.10224del (p.Ala3409LeufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99868437T>ACA462339415VPS13Bc.*533T>A (n.*533T>A)
n.11509T>A
c.*7121T>A (n.*7121T>A)
c.11364T>A (p.Ala3788=)
c.11439T>A (p.Ala3813=)
n.381T>A
c.11436T>A (p.Ala3812=)
c.11361T>A (p.Ala3787=)
c.11061T>A (p.Ala3687=)
c.8325T>A (p.Ala2775=)
c.7218T>A (p.Ala2406=)
c.11244T>A (p.Ala3748=)
c.6996T>A (p.Ala2332=)
c.10224T>A (p.Ala3408=)
8g.99868437T>CCA462339414VPS13Bc.*533T>C (n.*533T>C)
n.11509T>C
c.*7121T>C (n.*7121T>C)
c.11364T>C (p.Ala3788=)
c.11439T>C (p.Ala3813=)
n.381T>C
c.11436T>C (p.Ala3812=)
c.11361T>C (p.Ala3787=)
c.11061T>C (p.Ala3687=)
c.8325T>C (p.Ala2775=)
c.7218T>C (p.Ala2406=)
c.11244T>C (p.Ala3748=)
c.6996T>C (p.Ala2332=)
c.10224T>C (p.Ala3408=)
8g.99868437T>GCA462339413VPS13Bc.*533T>G (n.*533T>G)
n.11509T>G
c.*7121T>G (n.*7121T>G)
c.11364T>G (p.Ala3788=)
c.11439T>G (p.Ala3813=)
n.381T>G
c.11436T>G (p.Ala3812=)
c.11361T>G (p.Ala3787=)
c.11061T>G (p.Ala3687=)
c.8325T>G (p.Ala2775=)
c.7218T>G (p.Ala2406=)
c.11244T>G (p.Ala3748=)
c.6996T>G (p.Ala2332=)
c.10224T>G (p.Ala3408=)
 ClinVar dbSNP gnomAD v4
8g.99868438G>ACA371792376VPS13Bc.*534G>A (n.*534G>A)
n.11510G>A
c.*7122G>A (n.*7122G>A)
c.11365G>A (p.Ala3789Thr)
c.11440G>A (p.Ala3814Thr)
n.382G>A
c.11437G>A (p.Ala3813Thr)
c.11362G>A (p.Ala3788Thr)
c.11062G>A (p.Ala3688Thr)
c.8326G>A (p.Ala2776Thr)
c.7219G>A (p.Ala2407Thr)
c.11245G>A (p.Ala3749Thr)
c.6997G>A (p.Ala2333Thr)
c.10225G>A (p.Ala3409Thr)
8g.99868438G>CCA371792378VPS13Bc.*534G>C (n.*534G>C)
n.11510G>C
c.*7122G>C (n.*7122G>C)
c.11365G>C (p.Ala3789Pro)
c.11440G>C (p.Ala3814Pro)
n.382G>C
c.11437G>C (p.Ala3813Pro)
c.11362G>C (p.Ala3788Pro)
c.11062G>C (p.Ala3688Pro)
c.8326G>C (p.Ala2776Pro)
c.7219G>C (p.Ala2407Pro)
c.11245G>C (p.Ala3749Pro)
c.6997G>C (p.Ala2333Pro)
c.10225G>C (p.Ala3409Pro)
8g.99868438G>TCA371792379VPS13Bc.*534G>T (n.*534G>T)
n.11510G>T
c.*7122G>T (n.*7122G>T)
c.11365G>T (p.Ala3789Ser)
c.11440G>T (p.Ala3814Ser)
n.382G>T
c.11437G>T (p.Ala3813Ser)
c.11362G>T (p.Ala3788Ser)
c.11062G>T (p.Ala3688Ser)
c.8326G>T (p.Ala2776Ser)
c.7219G>T (p.Ala2407Ser)
c.11245G>T (p.Ala3749Ser)
c.6997G>T (p.Ala2333Ser)
c.10225G>T (p.Ala3409Ser)
8g.99868439C>ACA371792382VPS13Bc.*535C>A (n.*535C>A)
n.11511C>A
c.*7123C>A (n.*7123C>A)
c.11366C>A (p.Ala3789Asp)
c.11441C>A (p.Ala3814Asp)
n.383C>A
c.11438C>A (p.Ala3813Asp)
c.11363C>A (p.Ala3788Asp)
c.11063C>A (p.Ala3688Asp)
c.8327C>A (p.Ala2776Asp)
c.7220C>A (p.Ala2407Asp)
c.11246C>A (p.Ala3749Asp)
c.6998C>A (p.Ala2333Asp)
c.10226C>A (p.Ala3409Asp)
8g.99868439C>GCA371792384VPS13Bc.*535C>G (n.*535C>G)
n.11511C>G
c.*7123C>G (n.*7123C>G)
c.11366C>G (p.Ala3789Gly)
c.11441C>G (p.Ala3814Gly)
n.383C>G
c.11438C>G (p.Ala3813Gly)
c.11363C>G (p.Ala3788Gly)
c.11063C>G (p.Ala3688Gly)
c.8327C>G (p.Ala2776Gly)
c.7220C>G (p.Ala2407Gly)
c.11246C>G (p.Ala3749Gly)
c.6998C>G (p.Ala2333Gly)
c.10226C>G (p.Ala3409Gly)
8g.99868439C>TCA371792387VPS13Bc.*535C>T (n.*535C>T)
n.11511C>T
c.*7123C>T (n.*7123C>T)
c.11366C>T (p.Ala3789Val)
c.11441C>T (p.Ala3814Val)
n.383C>T
c.11438C>T (p.Ala3813Val)
c.11363C>T (p.Ala3788Val)
c.11063C>T (p.Ala3688Val)
c.8327C>T (p.Ala2776Val)
c.7220C>T (p.Ala2407Val)
c.11246C>T (p.Ala3749Val)
c.6998C>T (p.Ala2333Val)
c.10226C>T (p.Ala3409Val)
8g.99868440T>ACA462339417VPS13Bc.*536T>A (n.*536T>A)
n.11512T>A
c.*7124T>A (n.*7124T>A)
c.11367T>A (p.Ala3789=)
c.11442T>A (p.Ala3814=)
n.384T>A
c.11439T>A (p.Ala3813=)
c.11364T>A (p.Ala3788=)
c.11064T>A (p.Ala3688=)
c.8328T>A (p.Ala2776=)
c.7221T>A (p.Ala2407=)
c.11247T>A (p.Ala3749=)
c.6999T>A (p.Ala2333=)
c.10227T>A (p.Ala3409=)
8g.99868440T>CCA4825215VPS13Bc.*536T>C (n.*536T>C)
n.11512T>C
c.*7124T>C (n.*7124T>C)
c.11367T>C (p.Ala3789=)
c.11442T>C (p.Ala3814=)
n.384T>C
c.11439T>C (p.Ala3813=)
c.11364T>C (p.Ala3788=)
c.11064T>C (p.Ala3688=)
c.8328T>C (p.Ala2776=)
c.7221T>C (p.Ala2407=)
c.11247T>C (p.Ala3749=)
c.6999T>C (p.Ala2333=)
c.10227T>C (p.Ala3409=)
 dbSNP ExAC gnomAD v2
8g.99868440T>GCA462339418VPS13Bc.*536T>G (n.*536T>G)
n.11512T>G
c.*7124T>G (n.*7124T>G)
c.11367T>G (p.Ala3789=)
c.11442T>G (p.Ala3814=)
n.384T>G
c.11439T>G (p.Ala3813=)
c.11364T>G (p.Ala3788=)
c.11064T>G (p.Ala3688=)
c.8328T>G (p.Ala2776=)
c.7221T>G (p.Ala2407=)
c.11247T>G (p.Ala3749=)
c.6999T>G (p.Ala2333=)
c.10227T>G (p.Ala3409=)
8g.99868441G>ACA371792400VPS13Bc.*537G>A (n.*537G>A)
n.11513G>A
c.*7125G>A (n.*7125G>A)
c.11368G>A (p.Glu3790Lys)
c.11443G>A (p.Glu3815Lys)
n.385G>A
c.11440G>A (p.Glu3814Lys)
c.11365G>A (p.Glu3789Lys)
c.11065G>A (p.Glu3689Lys)
c.8329G>A (p.Glu2777Lys)
c.7222G>A (p.Glu2408Lys)
c.11248G>A (p.Glu3750Lys)
c.7000G>A (p.Glu2334Lys)
c.10228G>A (p.Glu3410Lys)
8g.99868441G>CCA371792395VPS13Bc.*537G>C (n.*537G>C)
n.11513G>C
c.*7125G>C (n.*7125G>C)
c.11368G>C (p.Glu3790Gln)
c.11443G>C (p.Glu3815Gln)
n.385G>C
c.11440G>C (p.Glu3814Gln)
c.11365G>C (p.Glu3789Gln)
c.11065G>C (p.Glu3689Gln)
c.8329G>C (p.Glu2777Gln)
c.7222G>C (p.Glu2408Gln)
c.11248G>C (p.Glu3750Gln)
c.7000G>C (p.Glu2334Gln)
c.10228G>C (p.Glu3410Gln)
8g.99868441G>TCA371792397VPS13Bc.*537G>T (n.*537G>T)
n.11513G>T
c.*7125G>T (n.*7125G>T)
c.11368G>T (p.Glu3790Ter)
c.11443G>T (p.Glu3815Ter)
n.385G>T
c.11440G>T (p.Glu3814Ter)
c.11365G>T (p.Glu3789Ter)
c.11065G>T (p.Glu3689Ter)
c.8329G>T (p.Glu2777Ter)
c.7222G>T (p.Glu2408Ter)
c.11248G>T (p.Glu3750Ter)
c.7000G>T (p.Glu2334Ter)
c.10228G>T (p.Glu3410Ter)
 gnomAD v4
8g.99868442A>CCA371792402VPS13Bc.*538A>C (n.*538A>C)
n.11514A>C
c.*7126A>C (n.*7126A>C)
c.11369A>C (p.Glu3790Ala)
c.11444A>C (p.Glu3815Ala)
n.386A>C
c.11441A>C (p.Glu3814Ala)
c.11366A>C (p.Glu3789Ala)
c.11066A>C (p.Glu3689Ala)
c.8330A>C (p.Glu2777Ala)
c.7223A>C (p.Glu2408Ala)
c.11249A>C (p.Glu3750Ala)
c.7001A>C (p.Glu2334Ala)
c.10229A>C (p.Glu3410Ala)
8g.99868442A>GCA371792404VPS13Bc.*538A>G (n.*538A>G)
n.11514A>G
c.*7126A>G (n.*7126A>G)
c.11369A>G (p.Glu3790Gly)
c.11444A>G (p.Glu3815Gly)
n.386A>G
c.11441A>G (p.Glu3814Gly)
c.11366A>G (p.Glu3789Gly)
c.11066A>G (p.Glu3689Gly)
c.8330A>G (p.Glu2777Gly)
c.7223A>G (p.Glu2408Gly)
c.11249A>G (p.Glu3750Gly)
c.7001A>G (p.Glu2334Gly)
c.10229A>G (p.Glu3410Gly)
 gnomAD v4
8g.99868442A>TCA371792406VPS13Bc.*538A>T (n.*538A>T)
n.11514A>T
c.*7126A>T (n.*7126A>T)
c.11369A>T (p.Glu3790Val)
c.11444A>T (p.Glu3815Val)
n.386A>T
c.11441A>T (p.Glu3814Val)
c.11366A>T (p.Glu3789Val)
c.11066A>T (p.Glu3689Val)
c.8330A>T (p.Glu2777Val)
c.7223A>T (p.Glu2408Val)
c.11249A>T (p.Glu3750Val)
c.7001A>T (p.Glu2334Val)
c.10229A>T (p.Glu3410Val)
8g.99868443G>ACA462339422VPS13Bc.*539G>A (n.*539G>A)
n.11515G>A
c.*7127G>A (n.*7127G>A)
c.11370G>A (p.Glu3790=)
c.11445G>A (p.Glu3815=)
n.387G>A
c.11442G>A (p.Glu3814=)
c.11367G>A (p.Glu3789=)
c.11067G>A (p.Glu3689=)
c.8331G>A (p.Glu2777=)
c.7224G>A (p.Glu2408=)
c.11250G>A (p.Glu3750=)
c.7002G>A (p.Glu2334=)
c.10230G>A (p.Glu3410=)
8g.99868443G>CCA371792408VPS13Bc.*539G>C (n.*539G>C)
n.11515G>C
c.*7127G>C (n.*7127G>C)
c.11370G>C (p.Glu3790Asp)
c.11445G>C (p.Glu3815Asp)
n.387G>C
c.11442G>C (p.Glu3814Asp)
c.11367G>C (p.Glu3789Asp)
c.11067G>C (p.Glu3689Asp)
c.8331G>C (p.Glu2777Asp)
c.7224G>C (p.Glu2408Asp)
c.11250G>C (p.Glu3750Asp)
c.7002G>C (p.Glu2334Asp)
c.10230G>C (p.Glu3410Asp)
8g.99868443G>TCA371792412VPS13Bc.*539G>T (n.*539G>T)
n.11515G>T
c.*7127G>T (n.*7127G>T)
c.11370G>T (p.Glu3790Asp)
c.11445G>T (p.Glu3815Asp)
n.387G>T
c.11442G>T (p.Glu3814Asp)
c.11367G>T (p.Glu3789Asp)
c.11067G>T (p.Glu3689Asp)
c.8331G>T (p.Glu2777Asp)
c.7224G>T (p.Glu2408Asp)
c.11250G>T (p.Glu3750Asp)
c.7002G>T (p.Glu2334Asp)
c.10230G>T (p.Glu3410Asp)
8g.99868444C>ACA371792415VPS13Bc.*540C>A (n.*540C>A)
n.11516C>A
c.*7128C>A (n.*7128C>A)
c.11371C>A (p.Leu3791Met)
c.11446C>A (p.Leu3816Met)
n.388C>A
c.11443C>A (p.Leu3815Met)
c.11368C>A (p.Leu3790Met)
c.11068C>A (p.Leu3690Met)
c.8332C>A (p.Leu2778Met)
c.7225C>A (p.Leu2409Met)
c.11251C>A (p.Leu3751Met)
c.7003C>A (p.Leu2335Met)
c.10231C>A (p.Leu3411Met)
8g.99868444C>GCA371792417VPS13Bc.*540C>G (n.*540C>G)
n.11516C>G
c.*7128C>G (n.*7128C>G)
c.11371C>G (p.Leu3791Val)
c.11446C>G (p.Leu3816Val)
n.388C>G
c.11443C>G (p.Leu3815Val)
c.11368C>G (p.Leu3790Val)
c.11068C>G (p.Leu3690Val)
c.8332C>G (p.Leu2778Val)
c.7225C>G (p.Leu2409Val)
c.11251C>G (p.Leu3751Val)
c.7003C>G (p.Leu2335Val)
c.10231C>G (p.Leu3411Val)
8g.99868444C>TCA462339423VPS13Bc.*540C>T (n.*540C>T)
n.11516C>T
c.*7128C>T (n.*7128C>T)
c.11371C>T (p.Leu3791=)
c.11446C>T (p.Leu3816=)
n.388C>T
c.11443C>T (p.Leu3815=)
c.11368C>T (p.Leu3790=)
c.11068C>T (p.Leu3690=)
c.8332C>T (p.Leu2778=)
c.7225C>T (p.Leu2409=)
c.11251C>T (p.Leu3751=)
c.7003C>T (p.Leu2335=)
c.10231C>T (p.Leu3411=)
 ClinVar dbSNP gnomAD v4
8g.99868445T>ACA371792420VPS13Bc.*541T>A (n.*541T>A)
n.11517T>A
c.*7129T>A (n.*7129T>A)
c.11372T>A (p.Leu3791Gln)
c.11447T>A (p.Leu3816Gln)
n.389T>A
c.11444T>A (p.Leu3815Gln)
c.11369T>A (p.Leu3790Gln)
c.11069T>A (p.Leu3690Gln)
c.8333T>A (p.Leu2778Gln)
c.7226T>A (p.Leu2409Gln)
c.11252T>A (p.Leu3751Gln)
c.7004T>A (p.Leu2335Gln)
c.10232T>A (p.Leu3411Gln)
 gnomAD v4
8g.99868445T>CCA371792422VPS13Bc.*541T>C (n.*541T>C)
n.11517T>C
c.*7129T>C (n.*7129T>C)
c.11372T>C (p.Leu3791Pro)
c.11447T>C (p.Leu3816Pro)
n.389T>C
c.11444T>C (p.Leu3815Pro)
c.11369T>C (p.Leu3790Pro)
c.11069T>C (p.Leu3690Pro)
c.8333T>C (p.Leu2778Pro)
c.7226T>C (p.Leu2409Pro)
c.11252T>C (p.Leu3751Pro)
c.7004T>C (p.Leu2335Pro)
c.10232T>C (p.Leu3411Pro)
8g.99868445T>GCA371792424VPS13Bc.*541T>G (n.*541T>G)
n.11517T>G
c.*7129T>G (n.*7129T>G)
c.11372T>G (p.Leu3791Arg)
c.11447T>G (p.Leu3816Arg)
n.389T>G
c.11444T>G (p.Leu3815Arg)
c.11369T>G (p.Leu3790Arg)
c.11069T>G (p.Leu3690Arg)
c.8333T>G (p.Leu2778Arg)
c.7226T>G (p.Leu2409Arg)
c.11252T>G (p.Leu3751Arg)
c.7004T>G (p.Leu2335Arg)
c.10232T>G (p.Leu3411Arg)
8g.99868447_99868449dupCA2579216443VPS13Bc.*543_*545dup (n.*543_*545dup)
n.11519_11521dup
c.*7131_*7133dup (n.*7131_*7133dup)
c.11374_11376dup (p.Val3792_Ser3793insVal)
c.11449_11451dup (p.Val3817_Ser3818insVal)
n.391_393dup
c.11446_11448dup (p.Val3816_Ser3817insVal)
c.11371_11373dup (p.Val3791_Ser3792insVal)
c.11071_11073dup (p.Val3691_Ser3692insVal)
c.8335_8337dup (p.Val2779_Ser2780insVal)
c.7228_7230dup (p.Val2410_Ser2411insVal)
c.11254_11256dup (p.Val3752_Ser3753insVal)
c.7006_7008dup (p.Val2336_Ser2337insVal)
c.10234_10236dup (p.Val3412_Ser3413insVal)
8g.99868445_99868446insACACCA2781481379VPS13Bc.*541_*542insACAC (n.*541_*542insACAC)
n.11517_11518insACAC
c.*7129_*7130insACAC (n.*7129_*7130insACAC)
c.11372_11373insACAC (p.Val3792HisfsTer27)
c.11447_11448insACAC (p.Val3817HisfsTer27)
n.389_390insACAC
c.11444_11445insACAC (p.Val3816HisfsTer27)
c.11369_11370insACAC (p.Val3791HisfsTer27)
c.11069_11070insACAC (p.Val3691HisfsTer27)
c.8333_8334insACAC (p.Val2779HisfsTer27)
c.7226_7227insACAC (p.Val2410HisfsTer27)
c.11252_11253insACAC (p.Val3752HisfsTer27)
c.7004_7005insACAC (p.Val2336HisfsTer27)
c.10232_10233insACAC (p.Val3412HisfsTer27)
8g.99868446G>ACA462339426VPS13Bc.*542G>A (n.*542G>A)
n.11518G>A
c.*7130G>A (n.*7130G>A)
c.11373G>A (p.Leu3791=)
c.11448G>A (p.Leu3816=)
n.390G>A
c.11445G>A (p.Leu3815=)
c.11370G>A (p.Leu3790=)
c.11070G>A (p.Leu3690=)
c.8334G>A (p.Leu2778=)
c.7227G>A (p.Leu2409=)
c.11253G>A (p.Leu3751=)
c.7005G>A (p.Leu2335=)
c.10233G>A (p.Leu3411=)
8g.99868446G>CCA462339427VPS13Bc.*542G>C (n.*542G>C)
n.11518G>C
c.*7130G>C (n.*7130G>C)
c.11373G>C (p.Leu3791=)
c.11448G>C (p.Leu3816=)
n.390G>C
c.11445G>C (p.Leu3815=)
c.11370G>C (p.Leu3790=)
c.11070G>C (p.Leu3690=)
c.8334G>C (p.Leu2778=)
c.7227G>C (p.Leu2409=)
c.11253G>C (p.Leu3751=)
c.7005G>C (p.Leu2335=)
c.10233G>C (p.Leu3411=)
8g.99868446G>TCA462339428VPS13Bc.*542G>T (n.*542G>T)
n.11518G>T
c.*7130G>T (n.*7130G>T)
c.11373G>T (p.Leu3791=)
c.11448G>T (p.Leu3816=)
n.390G>T
c.11445G>T (p.Leu3815=)
c.11370G>T (p.Leu3790=)
c.11070G>T (p.Leu3690=)
c.8334G>T (p.Leu2778=)
c.7227G>T (p.Leu2409=)
c.11253G>T (p.Leu3751=)
c.7005G>T (p.Leu2335=)
c.10233G>T (p.Leu3411=)
8g.99868447G>ACA4825216VPS13Bc.*543G>A (n.*543G>A)
n.11519G>A
c.*7131G>A (n.*7131G>A)
c.11374G>A (p.Val3792Met)
c.11449G>A (p.Val3817Met)
n.391G>A
c.11446G>A (p.Val3816Met)
c.11371G>A (p.Val3791Met)
c.11071G>A (p.Val3691Met)
c.8335G>A (p.Val2779Met)
c.7228G>A (p.Val2410Met)
c.11254G>A (p.Val3752Met)
c.7006G>A (p.Val2336Met)
c.10234G>A (p.Val3412Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868447G>CCA371792427VPS13Bc.*543G>C (n.*543G>C)
n.11519G>C
c.*7131G>C (n.*7131G>C)
c.11374G>C (p.Val3792Leu)
c.11449G>C (p.Val3817Leu)
n.391G>C
c.11446G>C (p.Val3816Leu)
c.11371G>C (p.Val3791Leu)
c.11071G>C (p.Val3691Leu)
c.8335G>C (p.Val2779Leu)
c.7228G>C (p.Val2410Leu)
c.11254G>C (p.Val3752Leu)
c.7006G>C (p.Val2336Leu)
c.10234G>C (p.Val3412Leu)
8g.99868447G>TCA371792430VPS13Bc.*543G>T (n.*543G>T)
n.11519G>T
c.*7131G>T (n.*7131G>T)
c.11374G>T (p.Val3792Leu)
c.11449G>T (p.Val3817Leu)
n.391G>T
c.11446G>T (p.Val3816Leu)
c.11371G>T (p.Val3791Leu)
c.11071G>T (p.Val3691Leu)
c.8335G>T (p.Val2779Leu)
c.7228G>T (p.Val2410Leu)
c.11254G>T (p.Val3752Leu)
c.7006G>T (p.Val2336Leu)
c.10234G>T (p.Val3412Leu)
8g.99868448T>ACA371792435VPS13Bc.*544T>A (n.*544T>A)
n.11520T>A
c.*7132T>A (n.*7132T>A)
c.11375T>A (p.Val3792Glu)
c.11450T>A (p.Val3817Glu)
n.392T>A
c.11447T>A (p.Val3816Glu)
c.11372T>A (p.Val3791Glu)
c.11072T>A (p.Val3691Glu)
c.8336T>A (p.Val2779Glu)
c.7229T>A (p.Val2410Glu)
c.11255T>A (p.Val3752Glu)
c.7007T>A (p.Val2336Glu)
c.10235T>A (p.Val3412Glu)
8g.99868448T>CCA371792438VPS13Bc.*544T>C (n.*544T>C)
n.11520T>C
c.*7132T>C (n.*7132T>C)
c.11375T>C (p.Val3792Ala)
c.11450T>C (p.Val3817Ala)
n.392T>C
c.11447T>C (p.Val3816Ala)
c.11372T>C (p.Val3791Ala)
c.11072T>C (p.Val3691Ala)
c.8336T>C (p.Val2779Ala)
c.7229T>C (p.Val2410Ala)
c.11255T>C (p.Val3752Ala)
c.7007T>C (p.Val2336Ala)
c.10235T>C (p.Val3412Ala)
 gnomAD v4
8g.99868448T>GCA371792440VPS13Bc.*544T>G (n.*544T>G)
n.11520T>G
c.*7132T>G (n.*7132T>G)
c.11375T>G (p.Val3792Gly)
c.11450T>G (p.Val3817Gly)
n.392T>G
c.11447T>G (p.Val3816Gly)
c.11372T>G (p.Val3791Gly)
c.11072T>G (p.Val3691Gly)
c.8336T>G (p.Val2779Gly)
c.7229T>G (p.Val2410Gly)
c.11255T>G (p.Val3752Gly)
c.7007T>G (p.Val2336Gly)
c.10235T>G (p.Val3412Gly)

Number of alleles fetched