Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99853554_99853596delCA10576250VPS13Bc.10240_10282del (p.Leu3414ValfsTer27)
n.10310_10352del
c.*5922_*5964del (n.*5922_*5964del)
c.10165_10207del (p.Leu3389ValfsTer27)
c.10237_10279del (p.Leu3413ValfsTer27)
c.10162_10204del (p.Leu3388ValfsTer27)
c.9862_9904del (p.Leu3288ValfsTer27)
c.7126_7168del (p.Leu2376ValfsTer27)
c.6019_6061del (p.Leu2007ValfsTer27)
c.10045_10087del (p.Leu3349ValfsTer27)
c.5797_5839del (p.Leu1933ValfsTer27)
c.9025_9067del (p.Leu3009ValfsTer27)
 ClinVar dbSNP
8g.99853578delCA4824907VPS13Bc.10264del (p.Cys3422ValfsTer?)
n.10334del
c.*5946del (n.*5946del)
c.10189del (p.Cys3397ValfsTer?)
c.10261del (p.Cys3421ValfsTer?)
c.10186del (p.Cys3396ValfsTer?)
c.9886del (p.Cys3296ValfsTer?)
c.7150del (p.Cys2384ValfsTer?)
c.6043del (p.Cys2015ValfsTer?)
c.10069del (p.Cys3357ValfsTer?)
c.5821del (p.Cys1941ValfsTer?)
c.9049del (p.Cys3017ValfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853578T>ACA371780972VPS13Bc.10264T>A (p.Cys3422Ser)
n.10334T>A
c.*5946T>A (n.*5946T>A)
c.10189T>A (p.Cys3397Ser)
c.10261T>A (p.Cys3421Ser)
c.10186T>A (p.Cys3396Ser)
c.9886T>A (p.Cys3296Ser)
c.7150T>A (p.Cys2384Ser)
c.6043T>A (p.Cys2015Ser)
c.10069T>A (p.Cys3357Ser)
c.5821T>A (p.Cys1941Ser)
c.9049T>A (p.Cys3017Ser)
8g.99853578T>CCA371780971VPS13Bc.10264T>C (p.Cys3422Arg)
n.10334T>C
c.*5946T>C (n.*5946T>C)
c.10189T>C (p.Cys3397Arg)
c.10261T>C (p.Cys3421Arg)
c.10186T>C (p.Cys3396Arg)
c.9886T>C (p.Cys3296Arg)
c.7150T>C (p.Cys2384Arg)
c.6043T>C (p.Cys2015Arg)
c.10069T>C (p.Cys3357Arg)
c.5821T>C (p.Cys1941Arg)
c.9049T>C (p.Cys3017Arg)
8g.99853578T>GCA371780970VPS13Bc.10264T>G (p.Cys3422Gly)
n.10334T>G
c.*5946T>G (n.*5946T>G)
c.10189T>G (p.Cys3397Gly)
c.10261T>G (p.Cys3421Gly)
c.10186T>G (p.Cys3396Gly)
c.9886T>G (p.Cys3296Gly)
c.7150T>G (p.Cys2384Gly)
c.6043T>G (p.Cys2015Gly)
c.10069T>G (p.Cys3357Gly)
c.5821T>G (p.Cys1941Gly)
c.9049T>G (p.Cys3017Gly)
8g.99853579delCA371780975VPS13Bc.10265del (p.Cys3422LeufsTer?)
n.10335del
c.*5947del (n.*5947del)
c.10190del (p.Cys3397LeufsTer?)
c.10262del (p.Cys3421LeufsTer?)
c.10187del (p.Cys3396LeufsTer?)
c.9887del (p.Cys3296LeufsTer?)
c.7151del (p.Cys2384LeufsTer?)
c.6044del (p.Cys2015LeufsTer?)
c.10070del (p.Cys3357LeufsTer?)
c.5822del (p.Cys1941LeufsTer?)
c.9050del (p.Cys3017LeufsTer?)
8g.99853579G>ACA371780973VPS13Bc.10265G>A (p.Cys3422Tyr)
n.10335G>A
c.*5947G>A (n.*5947G>A)
c.10190G>A (p.Cys3397Tyr)
c.10262G>A (p.Cys3421Tyr)
c.10187G>A (p.Cys3396Tyr)
c.9887G>A (p.Cys3296Tyr)
c.7151G>A (p.Cys2384Tyr)
c.6044G>A (p.Cys2015Tyr)
c.10070G>A (p.Cys3357Tyr)
c.5822G>A (p.Cys1941Tyr)
c.9050G>A (p.Cys3017Tyr)
 gnomAD v4
8g.99853579G>CCA182314082VPS13Bc.10265G>C (p.Cys3422Ser)
n.10335G>C
c.*5947G>C (n.*5947G>C)
c.10190G>C (p.Cys3397Ser)
c.10262G>C (p.Cys3421Ser)
c.10187G>C (p.Cys3396Ser)
c.9887G>C (p.Cys3296Ser)
c.7151G>C (p.Cys2384Ser)
c.6044G>C (p.Cys2015Ser)
c.10070G>C (p.Cys3357Ser)
c.5822G>C (p.Cys1941Ser)
c.9050G>C (p.Cys3017Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853579G>TCA371780974VPS13Bc.10265G>T (p.Cys3422Phe)
n.10335G>T
c.*5947G>T (n.*5947G>T)
c.10190G>T (p.Cys3397Phe)
c.10262G>T (p.Cys3421Phe)
c.10187G>T (p.Cys3396Phe)
c.9887G>T (p.Cys3296Phe)
c.7151G>T (p.Cys2384Phe)
c.6044G>T (p.Cys2015Phe)
c.10070G>T (p.Cys3357Phe)
c.5822G>T (p.Cys1941Phe)
c.9050G>T (p.Cys3017Phe)
8g.99853579_99853580insGCGCCA2565350650VPS13Bc.10265_10266insGCGC (p.Cys3422TrpfsTer21)
n.10335_10336insGCGC
c.*5947_*5948insGCGC (n.*5947_*5948insGCGC)
c.10190_10191insGCGC (p.Cys3397TrpfsTer21)
c.10262_10263insGCGC (p.Cys3421TrpfsTer21)
c.10187_10188insGCGC (p.Cys3396TrpfsTer21)
c.9887_9888insGCGC (p.Cys3296TrpfsTer21)
c.7151_7152insGCGC (p.Cys2384TrpfsTer21)
c.6044_6045insGCGC (p.Cys2015TrpfsTer21)
c.10070_10071insGCGC (p.Cys3357TrpfsTer21)
c.5822_5823insGCGC (p.Cys1941TrpfsTer21)
c.9050_9051insGCGC (p.Cys3017TrpfsTer21)
8g.99853580T>ACA371780976VPS13Bc.10266T>A (p.Cys3422Ter)
n.10336T>A
c.*5948T>A (n.*5948T>A)
c.10191T>A (p.Cys3397Ter)
c.10263T>A (p.Cys3421Ter)
c.10188T>A (p.Cys3396Ter)
c.9888T>A (p.Cys3296Ter)
c.7152T>A (p.Cys2384Ter)
c.6045T>A (p.Cys2015Ter)
c.10071T>A (p.Cys3357Ter)
c.5823T>A (p.Cys1941Ter)
c.9051T>A (p.Cys3017Ter)
8g.99853580T>CCA462458099VPS13Bc.10266T>C (p.Cys3422=)
n.10336T>C
c.*5948T>C (n.*5948T>C)
c.10191T>C (p.Cys3397=)
c.10263T>C (p.Cys3421=)
c.10188T>C (p.Cys3396=)
c.9888T>C (p.Cys3296=)
c.7152T>C (p.Cys2384=)
c.6045T>C (p.Cys2015=)
c.10071T>C (p.Cys3357=)
c.5823T>C (p.Cys1941=)
c.9051T>C (p.Cys3017=)
8g.99853580T>GCA371780977VPS13Bc.10266T>G (p.Cys3422Trp)
n.10336T>G
c.*5948T>G (n.*5948T>G)
c.10191T>G (p.Cys3397Trp)
c.10263T>G (p.Cys3421Trp)
c.10188T>G (p.Cys3396Trp)
c.9888T>G (p.Cys3296Trp)
c.7152T>G (p.Cys2384Trp)
c.6045T>G (p.Cys2015Trp)
c.10071T>G (p.Cys3357Trp)
c.5823T>G (p.Cys1941Trp)
c.9051T>G (p.Cys3017Trp)
 gnomAD v4
8g.99853580_99853581insCTACA2500557069VPS13Bc.10266_10267insCTA (p.Cys3422_Val3423insLeu)
n.10336_10337insCTA
c.*5948_*5949insCTA (n.*5948_*5949insCTA)
c.10191_10192insCTA (p.Cys3397_Val3398insLeu)
c.10263_10264insCTA (p.Cys3421_Val3422insLeu)
c.10188_10189insCTA (p.Cys3396_Val3397insLeu)
c.9888_9889insCTA (p.Cys3296_Val3297insLeu)
c.7152_7153insCTA (p.Cys2384_Val2385insLeu)
c.6045_6046insCTA (p.Cys2015_Val2016insLeu)
c.10071_10072insCTA (p.Cys3357_Val3358insLeu)
c.5823_5824insCTA (p.Cys1941_Val1942insLeu)
c.9051_9052insCTA (p.Cys3017_Val3018insLeu)
8g.99853581G>ACA371780980VPS13Bc.10267G>A (p.Val3423Met)
n.10337G>A
c.*5949G>A (n.*5949G>A)
c.10192G>A (p.Val3398Met)
c.10264G>A (p.Val3422Met)
c.10189G>A (p.Val3397Met)
c.9889G>A (p.Val3297Met)
c.7153G>A (p.Val2385Met)
c.6046G>A (p.Val2016Met)
c.10072G>A (p.Val3358Met)
c.5824G>A (p.Val1942Met)
c.9052G>A (p.Val3018Met)
8g.99853581G>CCA371780978VPS13Bc.10267G>C (p.Val3423Leu)
n.10337G>C
c.*5949G>C (n.*5949G>C)
c.10192G>C (p.Val3398Leu)
c.10264G>C (p.Val3422Leu)
c.10189G>C (p.Val3397Leu)
c.9889G>C (p.Val3297Leu)
c.7153G>C (p.Val2385Leu)
c.6046G>C (p.Val2016Leu)
c.10072G>C (p.Val3358Leu)
c.5824G>C (p.Val1942Leu)
c.9052G>C (p.Val3018Leu)
8g.99853581G>TCA371780979VPS13Bc.10267G>T (p.Val3423Leu)
n.10337G>T
c.*5949G>T (n.*5949G>T)
c.10192G>T (p.Val3398Leu)
c.10264G>T (p.Val3422Leu)
c.10189G>T (p.Val3397Leu)
c.9889G>T (p.Val3297Leu)
c.7153G>T (p.Val2385Leu)
c.6046G>T (p.Val2016Leu)
c.10072G>T (p.Val3358Leu)
c.5824G>T (p.Val1942Leu)
c.9052G>T (p.Val3018Leu)
8g.99853582T>ACA371780981VPS13Bc.10268T>A (p.Val3423Glu)
n.10338T>A
c.*5950T>A (n.*5950T>A)
c.10193T>A (p.Val3398Glu)
c.10265T>A (p.Val3422Glu)
c.10190T>A (p.Val3397Glu)
c.9890T>A (p.Val3297Glu)
c.7154T>A (p.Val2385Glu)
c.6047T>A (p.Val2016Glu)
c.10073T>A (p.Val3358Glu)
c.5825T>A (p.Val1942Glu)
c.9053T>A (p.Val3018Glu)
8g.99853582T>CCA182314099VPS13Bc.10268T>C (p.Val3423Ala)
n.10338T>C
c.*5950T>C (n.*5950T>C)
c.10193T>C (p.Val3398Ala)
c.10265T>C (p.Val3422Ala)
c.10190T>C (p.Val3397Ala)
c.9890T>C (p.Val3297Ala)
c.7154T>C (p.Val2385Ala)
c.6047T>C (p.Val2016Ala)
c.10073T>C (p.Val3358Ala)
c.5825T>C (p.Val1942Ala)
c.9053T>C (p.Val3018Ala)
 ClinVar dbSNP
8g.99853582T>GCA371780982VPS13Bc.10268T>G (p.Val3423Gly)
n.10338T>G
c.*5950T>G (n.*5950T>G)
c.10193T>G (p.Val3398Gly)
c.10265T>G (p.Val3422Gly)
c.10190T>G (p.Val3397Gly)
c.9890T>G (p.Val3297Gly)
c.7154T>G (p.Val2385Gly)
c.6047T>G (p.Val2016Gly)
c.10073T>G (p.Val3358Gly)
c.5825T>G (p.Val1942Gly)
c.9053T>G (p.Val3018Gly)
8g.99853583G>ACA462458100VPS13Bc.10269G>A (p.Val3423=)
n.10339G>A
c.*5951G>A (n.*5951G>A)
c.10194G>A (p.Val3398=)
c.10266G>A (p.Val3422=)
c.10191G>A (p.Val3397=)
c.9891G>A (p.Val3297=)
c.7155G>A (p.Val2385=)
c.6048G>A (p.Val2016=)
c.10074G>A (p.Val3358=)
c.5826G>A (p.Val1942=)
c.9054G>A (p.Val3018=)
 ClinVar dbSNP
8g.99853583G>CCA462458102VPS13Bc.10269G>C (p.Val3423=)
n.10339G>C
c.*5951G>C (n.*5951G>C)
c.10194G>C (p.Val3398=)
c.10266G>C (p.Val3422=)
c.10191G>C (p.Val3397=)
c.9891G>C (p.Val3297=)
c.7155G>C (p.Val2385=)
c.6048G>C (p.Val2016=)
c.10074G>C (p.Val3358=)
c.5826G>C (p.Val1942=)
c.9054G>C (p.Val3018=)
8g.99853583G>TCA462458101VPS13Bc.10269G>T (p.Val3423=)
n.10339G>T
c.*5951G>T (n.*5951G>T)
c.10194G>T (p.Val3398=)
c.10266G>T (p.Val3422=)
c.10191G>T (p.Val3397=)
c.9891G>T (p.Val3297=)
c.7155G>T (p.Val2385=)
c.6048G>T (p.Val2016=)
c.10074G>T (p.Val3358=)
c.5826G>T (p.Val1942=)
c.9054G>T (p.Val3018=)
8g.99853584G>ACA371780983VPS13Bc.10270G>A (p.Ala3424Thr)
n.10340G>A
c.*5952G>A (n.*5952G>A)
c.10195G>A (p.Ala3399Thr)
c.10267G>A (p.Ala3423Thr)
c.10192G>A (p.Ala3398Thr)
c.9892G>A (p.Ala3298Thr)
c.7156G>A (p.Ala2386Thr)
c.6049G>A (p.Ala2017Thr)
c.10075G>A (p.Ala3359Thr)
c.5827G>A (p.Ala1943Thr)
c.9055G>A (p.Ala3019Thr)
8g.99853584G>CCA371780984VPS13Bc.10270G>C (p.Ala3424Pro)
n.10340G>C
c.*5952G>C (n.*5952G>C)
c.10195G>C (p.Ala3399Pro)
c.10267G>C (p.Ala3423Pro)
c.10192G>C (p.Ala3398Pro)
c.9892G>C (p.Ala3298Pro)
c.7156G>C (p.Ala2386Pro)
c.6049G>C (p.Ala2017Pro)
c.10075G>C (p.Ala3359Pro)
c.5827G>C (p.Ala1943Pro)
c.9055G>C (p.Ala3019Pro)
8g.99853584G>TCA371780985VPS13Bc.10270G>T (p.Ala3424Ser)
n.10340G>T
c.*5952G>T (n.*5952G>T)
c.10195G>T (p.Ala3399Ser)
c.10267G>T (p.Ala3423Ser)
c.10192G>T (p.Ala3398Ser)
c.9892G>T (p.Ala3298Ser)
c.7156G>T (p.Ala2386Ser)
c.6049G>T (p.Ala2017Ser)
c.10075G>T (p.Ala3359Ser)
c.5827G>T (p.Ala1943Ser)
c.9055G>T (p.Ala3019Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853585C>ACA371780987VPS13Bc.10271C>A (p.Ala3424Asp)
n.10341C>A
c.*5953C>A (n.*5953C>A)
c.10196C>A (p.Ala3399Asp)
c.10268C>A (p.Ala3423Asp)
c.10193C>A (p.Ala3398Asp)
c.9893C>A (p.Ala3298Asp)
c.7157C>A (p.Ala2386Asp)
c.6050C>A (p.Ala2017Asp)
c.10076C>A (p.Ala3359Asp)
c.5828C>A (p.Ala1943Asp)
c.9056C>A (p.Ala3019Asp)
 gnomAD v4
8g.99853585C>GCA371780986VPS13Bc.10271C>G (p.Ala3424Gly)
n.10341C>G
c.*5953C>G (n.*5953C>G)
c.10196C>G (p.Ala3399Gly)
c.10268C>G (p.Ala3423Gly)
c.10193C>G (p.Ala3398Gly)
c.9893C>G (p.Ala3298Gly)
c.7157C>G (p.Ala2386Gly)
c.6050C>G (p.Ala2017Gly)
c.10076C>G (p.Ala3359Gly)
c.5828C>G (p.Ala1943Gly)
c.9056C>G (p.Ala3019Gly)
8g.99853585C>TCA4824908VPS13Bc.10271C>T (p.Ala3424Val)
n.10341C>T
c.*5953C>T (n.*5953C>T)
c.10196C>T (p.Ala3399Val)
c.10268C>T (p.Ala3423Val)
c.10193C>T (p.Ala3398Val)
c.9893C>T (p.Ala3298Val)
c.7157C>T (p.Ala2386Val)
c.6050C>T (p.Ala2017Val)
c.10076C>T (p.Ala3359Val)
c.5828C>T (p.Ala1943Val)
c.9056C>T (p.Ala3019Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853586C>ACA462458103VPS13Bc.10272C>A (p.Ala3424=)
n.10342C>A
c.*5954C>A (n.*5954C>A)
c.10197C>A (p.Ala3399=)
c.10269C>A (p.Ala3423=)
c.10194C>A (p.Ala3398=)
c.9894C>A (p.Ala3298=)
c.7158C>A (p.Ala2386=)
c.6051C>A (p.Ala2017=)
c.10077C>A (p.Ala3359=)
c.5829C>A (p.Ala1943=)
c.9057C>A (p.Ala3019=)
 dbSNP gnomAD v3 gnomAD v4
8g.99853586C>GCA462458104VPS13Bc.10272C>G (p.Ala3424=)
n.10342C>G
c.*5954C>G (n.*5954C>G)
c.10197C>G (p.Ala3399=)
c.10269C>G (p.Ala3423=)
c.10194C>G (p.Ala3398=)
c.9894C>G (p.Ala3298=)
c.7158C>G (p.Ala2386=)
c.6051C>G (p.Ala2017=)
c.10077C>G (p.Ala3359=)
c.5829C>G (p.Ala1943=)
c.9057C>G (p.Ala3019=)
8g.99853586C>TCA462458105VPS13Bc.10272C>T (p.Ala3424=)
n.10342C>T
c.*5954C>T (n.*5954C>T)
c.10197C>T (p.Ala3399=)
c.10269C>T (p.Ala3423=)
c.10194C>T (p.Ala3398=)
c.9894C>T (p.Ala3298=)
c.7158C>T (p.Ala2386=)
c.6051C>T (p.Ala2017=)
c.10077C>T (p.Ala3359=)
c.5829C>T (p.Ala1943=)
c.9057C>T (p.Ala3019=)
 ClinVar dbSNP gnomAD v4
8g.99853587C>ACA371780988VPS13Bc.10273C>A (p.Pro3425Thr)
n.10343C>A
c.*5955C>A (n.*5955C>A)
c.10198C>A (p.Pro3400Thr)
c.10270C>A (p.Pro3424Thr)
c.10195C>A (p.Pro3399Thr)
c.9895C>A (p.Pro3299Thr)
c.7159C>A (p.Pro2387Thr)
c.6052C>A (p.Pro2018Thr)
c.10078C>A (p.Pro3360Thr)
c.5830C>A (p.Pro1944Thr)
c.9058C>A (p.Pro3020Thr)
8g.99853587C>GCA371780989VPS13Bc.10273C>G (p.Pro3425Ala)
n.10343C>G
c.*5955C>G (n.*5955C>G)
c.10198C>G (p.Pro3400Ala)
c.10270C>G (p.Pro3424Ala)
c.10195C>G (p.Pro3399Ala)
c.9895C>G (p.Pro3299Ala)
c.7159C>G (p.Pro2387Ala)
c.6052C>G (p.Pro2018Ala)
c.10078C>G (p.Pro3360Ala)
c.5830C>G (p.Pro1944Ala)
c.9058C>G (p.Pro3020Ala)
8g.99853587C>TCA371780990VPS13Bc.10273C>T (p.Pro3425Ser)
n.10343C>T
c.*5955C>T (n.*5955C>T)
c.10198C>T (p.Pro3400Ser)
c.10270C>T (p.Pro3424Ser)
c.10195C>T (p.Pro3399Ser)
c.9895C>T (p.Pro3299Ser)
c.7159C>T (p.Pro2387Ser)
c.6052C>T (p.Pro2018Ser)
c.10078C>T (p.Pro3360Ser)
c.5830C>T (p.Pro1944Ser)
c.9058C>T (p.Pro3020Ser)
 ClinVar dbSNP gnomAD v4
8g.99853588C>ACA371780991VPS13Bc.10274C>A (p.Pro3425Gln)
n.10344C>A
c.*5956C>A (n.*5956C>A)
c.10199C>A (p.Pro3400Gln)
c.10271C>A (p.Pro3424Gln)
c.10196C>A (p.Pro3399Gln)
c.9896C>A (p.Pro3299Gln)
c.7160C>A (p.Pro2387Gln)
c.6053C>A (p.Pro2018Gln)
c.10079C>A (p.Pro3360Gln)
c.5831C>A (p.Pro1944Gln)
c.9059C>A (p.Pro3020Gln)
8g.99853588C>GCA182314107VPS13Bc.10274C>G (p.Pro3425Arg)
n.10344C>G
c.*5956C>G (n.*5956C>G)
c.10199C>G (p.Pro3400Arg)
c.10271C>G (p.Pro3424Arg)
c.10196C>G (p.Pro3399Arg)
c.9896C>G (p.Pro3299Arg)
c.7160C>G (p.Pro2387Arg)
c.6053C>G (p.Pro2018Arg)
c.10079C>G (p.Pro3360Arg)
c.5831C>G (p.Pro1944Arg)
c.9059C>G (p.Pro3020Arg)
 ClinVar dbSNP gnomAD v4
8g.99853588C>TCA231629VPS13Bc.10274C>T (p.Pro3425Leu)
n.10344C>T
c.*5956C>T (n.*5956C>T)
c.10199C>T (p.Pro3400Leu)
c.10271C>T (p.Pro3424Leu)
c.10196C>T (p.Pro3399Leu)
c.9896C>T (p.Pro3299Leu)
c.7160C>T (p.Pro2387Leu)
c.6053C>T (p.Pro2018Leu)
c.10079C>T (p.Pro3360Leu)
c.5831C>T (p.Pro1944Leu)
c.9059C>T (p.Pro3020Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853589G>ACA4824909VPS13Bc.10275G>A (p.Pro3425=)
n.10345G>A
c.*5957G>A (n.*5957G>A)
c.10200G>A (p.Pro3400=)
c.10272G>A (p.Pro3424=)
c.10197G>A (p.Pro3399=)
c.9897G>A (p.Pro3299=)
c.7161G>A (p.Pro2387=)
c.6054G>A (p.Pro2018=)
c.10080G>A (p.Pro3360=)
c.5832G>A (p.Pro1944=)
c.9060G>A (p.Pro3020=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853589G>CCA462458106VPS13Bc.10275G>C (p.Pro3425=)
n.10345G>C
c.*5957G>C (n.*5957G>C)
c.10200G>C (p.Pro3400=)
c.10272G>C (p.Pro3424=)
c.10197G>C (p.Pro3399=)
c.9897G>C (p.Pro3299=)
c.7161G>C (p.Pro2387=)
c.6054G>C (p.Pro2018=)
c.10080G>C (p.Pro3360=)
c.5832G>C (p.Pro1944=)
c.9060G>C (p.Pro3020=)
 gnomAD v4
8g.99853589G>TCA462458107VPS13Bc.10275G>T (p.Pro3425=)
n.10345G>T
c.*5957G>T (n.*5957G>T)
c.10200G>T (p.Pro3400=)
c.10272G>T (p.Pro3424=)
c.10197G>T (p.Pro3399=)
c.9897G>T (p.Pro3299=)
c.7161G>T (p.Pro2387=)
c.6054G>T (p.Pro2018=)
c.10080G>T (p.Pro3360=)
c.5832G>T (p.Pro1944=)
c.9060G>T (p.Pro3020=)
 dbSNP gnomAD v4
8g.99853591dupCA2688071965VPS13Bc.10277dup (p.Ala3427SerfsTer15)
n.10347dup
c.*5959dup (n.*5959dup)
c.10202dup (p.Ala3402SerfsTer15)
c.10274dup (p.Ala3426SerfsTer15)
c.10199dup (p.Ala3401SerfsTer15)
c.9899dup (p.Ala3301SerfsTer15)
c.7163dup (p.Ala2389SerfsTer15)
c.6056dup (p.Ala2020SerfsTer15)
c.10082dup (p.Ala3362SerfsTer15)
c.5834dup (p.Ala1946SerfsTer15)
c.9062dup (p.Ala3022SerfsTer15)
 gnomAD v4
8g.99853591delCA2688071966VPS13Bc.10277del (p.Gly3426GlufsTer29)
n.10347del
c.*5959del (n.*5959del)
c.10202del (p.Gly3401GlufsTer29)
c.10274del (p.Gly3425GlufsTer29)
c.10199del (p.Gly3400GlufsTer29)
c.9899del (p.Gly3300GlufsTer29)
c.7163del (p.Gly2388GlufsTer29)
c.6056del (p.Gly2019GlufsTer29)
c.10082del (p.Gly3361GlufsTer29)
c.5834del (p.Gly1945GlufsTer29)
c.9062del (p.Gly3021GlufsTer29)
 gnomAD v4
8g.99853590G>ACA371780992VPS13Bc.10276G>A (p.Gly3426Arg)
n.10346G>A
c.*5958G>A (n.*5958G>A)
c.10201G>A (p.Gly3401Arg)
c.10273G>A (p.Gly3425Arg)
c.10198G>A (p.Gly3400Arg)
c.9898G>A (p.Gly3300Arg)
c.7162G>A (p.Gly2388Arg)
c.6055G>A (p.Gly2019Arg)
c.10081G>A (p.Gly3361Arg)
c.5833G>A (p.Gly1945Arg)
c.9061G>A (p.Gly3021Arg)
8g.99853590G>CCA371780994VPS13Bc.10276G>C (p.Gly3426Arg)
n.10346G>C
c.*5958G>C (n.*5958G>C)
c.10201G>C (p.Gly3401Arg)
c.10273G>C (p.Gly3425Arg)
c.10198G>C (p.Gly3400Arg)
c.9898G>C (p.Gly3300Arg)
c.7162G>C (p.Gly2388Arg)
c.6055G>C (p.Gly2019Arg)
c.10081G>C (p.Gly3361Arg)
c.5833G>C (p.Gly1945Arg)
c.9061G>C (p.Gly3021Arg)
8g.99853590G>TCA371780993VPS13Bc.10276G>T (p.Gly3426Ter)
n.10346G>T
c.*5958G>T (n.*5958G>T)
c.10201G>T (p.Gly3401Ter)
c.10273G>T (p.Gly3425Ter)
c.10198G>T (p.Gly3400Ter)
c.9898G>T (p.Gly3300Ter)
c.7162G>T (p.Gly2388Ter)
c.6055G>T (p.Gly2019Ter)
c.10081G>T (p.Gly3361Ter)
c.5833G>T (p.Gly1945Ter)
c.9061G>T (p.Gly3021Ter)
8g.99853591G>ACA371780995VPS13Bc.10277G>A (p.Gly3426Glu)
n.10347G>A
c.*5959G>A (n.*5959G>A)
c.10202G>A (p.Gly3401Glu)
c.10274G>A (p.Gly3425Glu)
c.10199G>A (p.Gly3400Glu)
c.9899G>A (p.Gly3300Glu)
c.7163G>A (p.Gly2388Glu)
c.6056G>A (p.Gly2019Glu)
c.10082G>A (p.Gly3361Glu)
c.5834G>A (p.Gly1945Glu)
c.9062G>A (p.Gly3021Glu)
8g.99853591G>CCA371780996VPS13Bc.10277G>C (p.Gly3426Ala)
n.10347G>C
c.*5959G>C (n.*5959G>C)
c.10202G>C (p.Gly3401Ala)
c.10274G>C (p.Gly3425Ala)
c.10199G>C (p.Gly3400Ala)
c.9899G>C (p.Gly3300Ala)
c.7163G>C (p.Gly2388Ala)
c.6056G>C (p.Gly2019Ala)
c.10082G>C (p.Gly3361Ala)
c.5834G>C (p.Gly1945Ala)
c.9062G>C (p.Gly3021Ala)
8g.99853591G>TCA371780997VPS13Bc.10277G>T (p.Gly3426Val)
n.10347G>T
c.*5959G>T (n.*5959G>T)
c.10202G>T (p.Gly3401Val)
c.10274G>T (p.Gly3425Val)
c.10199G>T (p.Gly3400Val)
c.9899G>T (p.Gly3300Val)
c.7163G>T (p.Gly2388Val)
c.6056G>T (p.Gly2019Val)
c.10082G>T (p.Gly3361Val)
c.5834G>T (p.Gly1945Val)
c.9062G>T (p.Gly3021Val)
8g.99853592A>CCA462458108VPS13Bc.10278A>C (p.Gly3426=)
n.10348A>C
c.*5960A>C (n.*5960A>C)
c.10203A>C (p.Gly3401=)
c.10275A>C (p.Gly3425=)
c.10200A>C (p.Gly3400=)
c.9900A>C (p.Gly3300=)
c.7164A>C (p.Gly2388=)
c.6057A>C (p.Gly2019=)
c.10083A>C (p.Gly3361=)
c.5835A>C (p.Gly1945=)
c.9063A>C (p.Gly3021=)
8g.99853592A>GCA462458109VPS13Bc.10278A>G (p.Gly3426=)
n.10348A>G
c.*5960A>G (n.*5960A>G)
c.10203A>G (p.Gly3401=)
c.10275A>G (p.Gly3425=)
c.10200A>G (p.Gly3400=)
c.9900A>G (p.Gly3300=)
c.7164A>G (p.Gly2388=)
c.6057A>G (p.Gly2019=)
c.10083A>G (p.Gly3361=)
c.5835A>G (p.Gly1945=)
c.9063A>G (p.Gly3021=)
 gnomAD v4
8g.99853592A>TCA462458110VPS13Bc.10278A>T (p.Gly3426=)
n.10348A>T
c.*5960A>T (n.*5960A>T)
c.10203A>T (p.Gly3401=)
c.10275A>T (p.Gly3425=)
c.10200A>T (p.Gly3400=)
c.9900A>T (p.Gly3300=)
c.7164A>T (p.Gly2388=)
c.6057A>T (p.Gly2019=)
c.10083A>T (p.Gly3361=)
c.5835A>T (p.Gly1945=)
c.9063A>T (p.Gly3021=)
 ClinVar
8g.99853593G>ACA371780998VPS13Bc.10279G>A (p.Ala3427Thr)
n.10349G>A
c.*5961G>A (n.*5961G>A)
c.10204G>A (p.Ala3402Thr)
c.10276G>A (p.Ala3426Thr)
c.10201G>A (p.Ala3401Thr)
c.9901G>A (p.Ala3301Thr)
c.7165G>A (p.Ala2389Thr)
c.6058G>A (p.Ala2020Thr)
c.10084G>A (p.Ala3362Thr)
c.5836G>A (p.Ala1946Thr)
c.9064G>A (p.Ala3022Thr)
8g.99853593G>CCA371780999VPS13Bc.10279G>C (p.Ala3427Pro)
n.10349G>C
c.*5961G>C (n.*5961G>C)
c.10204G>C (p.Ala3402Pro)
c.10276G>C (p.Ala3426Pro)
c.10201G>C (p.Ala3401Pro)
c.9901G>C (p.Ala3301Pro)
c.7165G>C (p.Ala2389Pro)
c.6058G>C (p.Ala2020Pro)
c.10084G>C (p.Ala3362Pro)
c.5836G>C (p.Ala1946Pro)
c.9064G>C (p.Ala3022Pro)
8g.99853593G>TCA371781001VPS13Bc.10279G>T (p.Ala3427Ser)
n.10349G>T
c.*5961G>T (n.*5961G>T)
c.10204G>T (p.Ala3402Ser)
c.10276G>T (p.Ala3426Ser)
c.10201G>T (p.Ala3401Ser)
c.9901G>T (p.Ala3301Ser)
c.7165G>T (p.Ala2389Ser)
c.6058G>T (p.Ala2020Ser)
c.10084G>T (p.Ala3362Ser)
c.5836G>T (p.Ala1946Ser)
c.9064G>T (p.Ala3022Ser)
8g.99853594C>ACA371781003VPS13Bc.10280C>A (p.Ala3427Asp)
n.10350C>A
c.*5962C>A (n.*5962C>A)
c.10205C>A (p.Ala3402Asp)
c.10277C>A (p.Ala3426Asp)
c.10202C>A (p.Ala3401Asp)
c.9902C>A (p.Ala3301Asp)
c.7166C>A (p.Ala2389Asp)
c.6059C>A (p.Ala2020Asp)
c.10085C>A (p.Ala3362Asp)
c.5837C>A (p.Ala1946Asp)
c.9065C>A (p.Ala3022Asp)
8g.99853594C>GCA371781004VPS13Bc.10280C>G (p.Ala3427Gly)
n.10350C>G
c.*5962C>G (n.*5962C>G)
c.10205C>G (p.Ala3402Gly)
c.10277C>G (p.Ala3426Gly)
c.10202C>G (p.Ala3401Gly)
c.9902C>G (p.Ala3301Gly)
c.7166C>G (p.Ala2389Gly)
c.6059C>G (p.Ala2020Gly)
c.10085C>G (p.Ala3362Gly)
c.5837C>G (p.Ala1946Gly)
c.9065C>G (p.Ala3022Gly)
8g.99853594C>TCA371781005VPS13Bc.10280C>T (p.Ala3427Val)
n.10350C>T
c.*5962C>T (n.*5962C>T)
c.10205C>T (p.Ala3402Val)
c.10277C>T (p.Ala3426Val)
c.10202C>T (p.Ala3401Val)
c.9902C>T (p.Ala3301Val)
c.7166C>T (p.Ala2389Val)
c.6059C>T (p.Ala2020Val)
c.10085C>T (p.Ala3362Val)
c.5837C>T (p.Ala1946Val)
c.9065C>T (p.Ala3022Val)
8g.99853595T>ACA462458111VPS13Bc.10281T>A (p.Ala3427=)
n.10351T>A
c.*5963T>A (n.*5963T>A)
c.10206T>A (p.Ala3402=)
c.10278T>A (p.Ala3426=)
c.10203T>A (p.Ala3401=)
c.9903T>A (p.Ala3301=)
c.7167T>A (p.Ala2389=)
c.6060T>A (p.Ala2020=)
c.10086T>A (p.Ala3362=)
c.5838T>A (p.Ala1946=)
c.9066T>A (p.Ala3022=)
8g.99853595T>CCA462458112VPS13Bc.10281T>C (p.Ala3427=)
n.10351T>C
c.*5963T>C (n.*5963T>C)
c.10206T>C (p.Ala3402=)
c.10278T>C (p.Ala3426=)
c.10203T>C (p.Ala3401=)
c.9903T>C (p.Ala3301=)
c.7167T>C (p.Ala2389=)
c.6060T>C (p.Ala2020=)
c.10086T>C (p.Ala3362=)
c.5838T>C (p.Ala1946=)
c.9066T>C (p.Ala3022=)
8g.99853595T>GCA462458113VPS13Bc.10281T>G (p.Ala3427=)
n.10351T>G
c.*5963T>G (n.*5963T>G)
c.10206T>G (p.Ala3402=)
c.10278T>G (p.Ala3426=)
c.10203T>G (p.Ala3401=)
c.9903T>G (p.Ala3301=)
c.7167T>G (p.Ala2389=)
c.6060T>G (p.Ala2020=)
c.10086T>G (p.Ala3362=)
c.5838T>G (p.Ala1946=)
c.9066T>G (p.Ala3022=)
8g.99853596G>ACA371781006VPS13Bc.10282G>A (p.Gly3428Ser)
n.10352G>A
c.*5964G>A (n.*5964G>A)
c.10207G>A (p.Gly3403Ser)
c.10279G>A (p.Gly3427Ser)
c.10204G>A (p.Gly3402Ser)
c.9904G>A (p.Gly3302Ser)
c.7168G>A (p.Gly2390Ser)
c.6061G>A (p.Gly2021Ser)
c.10087G>A (p.Gly3363Ser)
c.5839G>A (p.Gly1947Ser)
c.9067G>A (p.Gly3023Ser)
8g.99853596G>CCA371781007VPS13Bc.10282G>C (p.Gly3428Arg)
n.10352G>C
c.*5964G>C (n.*5964G>C)
c.10207G>C (p.Gly3403Arg)
c.10279G>C (p.Gly3427Arg)
c.10204G>C (p.Gly3402Arg)
c.9904G>C (p.Gly3302Arg)
c.7168G>C (p.Gly2390Arg)
c.6061G>C (p.Gly2021Arg)
c.10087G>C (p.Gly3363Arg)
c.5839G>C (p.Gly1947Arg)
c.9067G>C (p.Gly3023Arg)
8g.99853596G>TCA371781008VPS13Bc.10282G>T (p.Gly3428Cys)
n.10352G>T
c.*5964G>T (n.*5964G>T)
c.10207G>T (p.Gly3403Cys)
c.10279G>T (p.Gly3427Cys)
c.10204G>T (p.Gly3402Cys)
c.9904G>T (p.Gly3302Cys)
c.7168G>T (p.Gly2390Cys)
c.6061G>T (p.Gly2021Cys)
c.10087G>T (p.Gly3363Cys)
c.5839G>T (p.Gly1947Cys)
c.9067G>T (p.Gly3023Cys)
 gnomAD v4
8g.99853597G>ACA371781009VPS13Bc.10283G>A (p.Gly3428Asp)
n.10353G>A
c.*5965G>A (n.*5965G>A)
c.10208G>A (p.Gly3403Asp)
c.10280G>A (p.Gly3427Asp)
c.10205G>A (p.Gly3402Asp)
c.9905G>A (p.Gly3302Asp)
c.7169G>A (p.Gly2390Asp)
c.6062G>A (p.Gly2021Asp)
c.10088G>A (p.Gly3363Asp)
c.5840G>A (p.Gly1947Asp)
c.9068G>A (p.Gly3023Asp)
 ClinVar
8g.99853597G>CCA371781011VPS13Bc.10283G>C (p.Gly3428Ala)
n.10353G>C
c.*5965G>C (n.*5965G>C)
c.10208G>C (p.Gly3403Ala)
c.10280G>C (p.Gly3427Ala)
c.10205G>C (p.Gly3402Ala)
c.9905G>C (p.Gly3302Ala)
c.7169G>C (p.Gly2390Ala)
c.6062G>C (p.Gly2021Ala)
c.10088G>C (p.Gly3363Ala)
c.5840G>C (p.Gly1947Ala)
c.9068G>C (p.Gly3023Ala)
8g.99853597G>TCA371781010VPS13Bc.10283G>T (p.Gly3428Val)
n.10353G>T
c.*5965G>T (n.*5965G>T)
c.10208G>T (p.Gly3403Val)
c.10280G>T (p.Gly3427Val)
c.10205G>T (p.Gly3402Val)
c.9905G>T (p.Gly3302Val)
c.7169G>T (p.Gly2390Val)
c.6062G>T (p.Gly2021Val)
c.10088G>T (p.Gly3363Val)
c.5840G>T (p.Gly1947Val)
c.9068G>T (p.Gly3023Val)
8g.99853598T>ACA462458114VPS13Bc.10284T>A (p.Gly3428=)
n.10354T>A
c.*5966T>A (n.*5966T>A)
c.10209T>A (p.Gly3403=)
c.10281T>A (p.Gly3427=)
c.10206T>A (p.Gly3402=)
c.9906T>A (p.Gly3302=)
c.7170T>A (p.Gly2390=)
c.6063T>A (p.Gly2021=)
c.10089T>A (p.Gly3363=)
c.5841T>A (p.Gly1947=)
c.9069T>A (p.Gly3023=)
8g.99853598T>CCA462458115VPS13Bc.10284T>C (p.Gly3428=)
n.10354T>C
c.*5966T>C (n.*5966T>C)
c.10209T>C (p.Gly3403=)
c.10281T>C (p.Gly3427=)
c.10206T>C (p.Gly3402=)
c.9906T>C (p.Gly3302=)
c.7170T>C (p.Gly2390=)
c.6063T>C (p.Gly2021=)
c.10089T>C (p.Gly3363=)
c.5841T>C (p.Gly1947=)
c.9069T>C (p.Gly3023=)
 gnomAD v4
8g.99853598T>GCA462458116VPS13Bc.10284T>G (p.Gly3428=)
n.10354T>G
c.*5966T>G (n.*5966T>G)
c.10209T>G (p.Gly3403=)
c.10281T>G (p.Gly3427=)
c.10206T>G (p.Gly3402=)
c.9906T>G (p.Gly3302=)
c.7170T>G (p.Gly2390=)
c.6063T>G (p.Gly2021=)
c.10089T>G (p.Gly3363=)
c.5841T>G (p.Gly1947=)
c.9069T>G (p.Gly3023=)
8g.99853598dupCA2580079335VPS13Bc.10284dup (p.Pro3429SerfsTer13)
n.10354dup
c.*5966dup (n.*5966dup)
c.10209dup (p.Pro3404SerfsTer13)
c.10281dup (p.Pro3428SerfsTer13)
c.10206dup (p.Pro3403SerfsTer13)
c.9906dup (p.Pro3303SerfsTer13)
c.7170dup (p.Pro2391SerfsTer13)
c.6063dup (p.Pro2022SerfsTer13)
c.10089dup (p.Pro3364SerfsTer13)
c.5841dup (p.Pro1948SerfsTer13)
c.9069dup (p.Pro3024SerfsTer13)
 ClinVar
8g.99853599C>ACA371781012VPS13Bc.10285C>A (p.Pro3429Thr)
n.10355C>A
c.*5967C>A (n.*5967C>A)
c.10210C>A (p.Pro3404Thr)
c.10282C>A (p.Pro3428Thr)
c.10207C>A (p.Pro3403Thr)
c.9907C>A (p.Pro3303Thr)
c.7171C>A (p.Pro2391Thr)
c.6064C>A (p.Pro2022Thr)
c.10090C>A (p.Pro3364Thr)
c.5842C>A (p.Pro1948Thr)
c.9070C>A (p.Pro3024Thr)
8g.99853599C>GCA371781013VPS13Bc.10285C>G (p.Pro3429Ala)
n.10355C>G
c.*5967C>G (n.*5967C>G)
c.10210C>G (p.Pro3404Ala)
c.10282C>G (p.Pro3428Ala)
c.10207C>G (p.Pro3403Ala)
c.9907C>G (p.Pro3303Ala)
c.7171C>G (p.Pro2391Ala)
c.6064C>G (p.Pro2022Ala)
c.10090C>G (p.Pro3364Ala)
c.5842C>G (p.Pro1948Ala)
c.9070C>G (p.Pro3024Ala)
8g.99853599C>TCA371781014VPS13Bc.10285C>T (p.Pro3429Ser)
n.10355C>T
c.*5967C>T (n.*5967C>T)
c.10210C>T (p.Pro3404Ser)
c.10282C>T (p.Pro3428Ser)
c.10207C>T (p.Pro3403Ser)
c.9907C>T (p.Pro3303Ser)
c.7171C>T (p.Pro2391Ser)
c.6064C>T (p.Pro2022Ser)
c.10090C>T (p.Pro3364Ser)
c.5842C>T (p.Pro1948Ser)
c.9070C>T (p.Pro3024Ser)
 gnomAD v4
8g.99853600C>ACA371781015VPS13Bc.10286C>A (p.Pro3429His)
n.10356C>A
c.*5968C>A (n.*5968C>A)
c.10211C>A (p.Pro3404His)
c.10283C>A (p.Pro3428His)
c.10208C>A (p.Pro3403His)
c.9908C>A (p.Pro3303His)
c.7172C>A (p.Pro2391His)
c.6065C>A (p.Pro2022His)
c.10091C>A (p.Pro3364His)
c.5843C>A (p.Pro1948His)
c.9071C>A (p.Pro3024His)
8g.99853600C>GCA371781016VPS13Bc.10286C>G (p.Pro3429Arg)
n.10356C>G
c.*5968C>G (n.*5968C>G)
c.10211C>G (p.Pro3404Arg)
c.10283C>G (p.Pro3428Arg)
c.10208C>G (p.Pro3403Arg)
c.9908C>G (p.Pro3303Arg)
c.7172C>G (p.Pro2391Arg)
c.6065C>G (p.Pro2022Arg)
c.10091C>G (p.Pro3364Arg)
c.5843C>G (p.Pro1948Arg)
c.9071C>G (p.Pro3024Arg)
8g.99853600C>TCA371781017VPS13Bc.10286C>T (p.Pro3429Leu)
n.10356C>T
c.*5968C>T (n.*5968C>T)
c.10211C>T (p.Pro3404Leu)
c.10283C>T (p.Pro3428Leu)
c.10208C>T (p.Pro3403Leu)
c.9908C>T (p.Pro3303Leu)
c.7172C>T (p.Pro2391Leu)
c.6065C>T (p.Pro2022Leu)
c.10091C>T (p.Pro3364Leu)
c.5843C>T (p.Pro1948Leu)
c.9071C>T (p.Pro3024Leu)
 COSMIC COSMIC
8g.99853601C>ACA462458117VPS13Bc.10287C>A (p.Pro3429=)
n.10357C>A
c.*5969C>A (n.*5969C>A)
c.10212C>A (p.Pro3404=)
c.10284C>A (p.Pro3428=)
c.10209C>A (p.Pro3403=)
c.9909C>A (p.Pro3303=)
c.7173C>A (p.Pro2391=)
c.6066C>A (p.Pro2022=)
c.10092C>A (p.Pro3364=)
c.5844C>A (p.Pro1948=)
c.9072C>A (p.Pro3024=)
8g.99853601C>GCA462458118VPS13Bc.10287C>G (p.Pro3429=)
n.10357C>G
c.*5969C>G (n.*5969C>G)
c.10212C>G (p.Pro3404=)
c.10284C>G (p.Pro3428=)
c.10209C>G (p.Pro3403=)
c.9909C>G (p.Pro3303=)
c.7173C>G (p.Pro2391=)
c.6066C>G (p.Pro2022=)
c.10092C>G (p.Pro3364=)
c.5844C>G (p.Pro1948=)
c.9072C>G (p.Pro3024=)
8g.99853601C>TCA462458119VPS13Bc.10287C>T (p.Pro3429=)
n.10357C>T
c.*5969C>T (n.*5969C>T)
c.10212C>T (p.Pro3404=)
c.10284C>T (p.Pro3428=)
c.10209C>T (p.Pro3403=)
c.9909C>T (p.Pro3303=)
c.7173C>T (p.Pro2391=)
c.6066C>T (p.Pro2022=)
c.10092C>T (p.Pro3364=)
c.5844C>T (p.Pro1948=)
c.9072C>T (p.Pro3024=)
8g.99853604_99853605insTCCTCCA2740966430VPS13Bc.10290_10291insTCCTC (p.Pro3431SerfsTer26)
n.10360_10361insTCCTC
c.*5972_*5973insTCCTC (n.*5972_*5973insTCCTC)
c.10215_10216insTCCTC (p.Pro3406SerfsTer26)
c.10287_10288insTCCTC (p.Pro3430SerfsTer26)
c.10212_10213insTCCTC (p.Pro3405SerfsTer26)
c.9912_9913insTCCTC (p.Pro3305SerfsTer26)
c.7176_7177insTCCTC (p.Pro2393SerfsTer26)
c.6069_6070insTCCTC (p.Pro2024SerfsTer26)
c.10095_10096insTCCTC (p.Pro3366SerfsTer26)
c.5847_5848insTCCTC (p.Pro1950SerfsTer26)
c.9075_9076insTCCTC (p.Pro3026SerfsTer26)
8g.99853602C>ACA371781018VPS13Bc.10288C>A (p.Leu3430Ile)
n.10358C>A
c.*5970C>A (n.*5970C>A)
c.10213C>A (p.Leu3405Ile)
c.10285C>A (p.Leu3429Ile)
c.10210C>A (p.Leu3404Ile)
c.9910C>A (p.Leu3304Ile)
c.7174C>A (p.Leu2392Ile)
c.6067C>A (p.Leu2023Ile)
c.10093C>A (p.Leu3365Ile)
c.5845C>A (p.Leu1949Ile)
c.9073C>A (p.Leu3025Ile)
8g.99853602C>GCA371781019VPS13Bc.10288C>G (p.Leu3430Val)
n.10358C>G
c.*5970C>G (n.*5970C>G)
c.10213C>G (p.Leu3405Val)
c.10285C>G (p.Leu3429Val)
c.10210C>G (p.Leu3404Val)
c.9910C>G (p.Leu3304Val)
c.7174C>G (p.Leu2392Val)
c.6067C>G (p.Leu2023Val)
c.10093C>G (p.Leu3365Val)
c.5845C>G (p.Leu1949Val)
c.9073C>G (p.Leu3025Val)
8g.99853602C>TCA371781020VPS13Bc.10288C>T (p.Leu3430Phe)
n.10358C>T
c.*5970C>T (n.*5970C>T)
c.10213C>T (p.Leu3405Phe)
c.10285C>T (p.Leu3429Phe)
c.10210C>T (p.Leu3404Phe)
c.9910C>T (p.Leu3304Phe)
c.7174C>T (p.Leu2392Phe)
c.6067C>T (p.Leu2023Phe)
c.10093C>T (p.Leu3365Phe)
c.5845C>T (p.Leu1949Phe)
c.9073C>T (p.Leu3025Phe)
8g.99853603T>ACA371781021VPS13Bc.10289T>A (p.Leu3430His)
n.10359T>A
c.*5971T>A (n.*5971T>A)
c.10214T>A (p.Leu3405His)
c.10286T>A (p.Leu3429His)
c.10211T>A (p.Leu3404His)
c.9911T>A (p.Leu3304His)
c.7175T>A (p.Leu2392His)
c.6068T>A (p.Leu2023His)
c.10094T>A (p.Leu3365His)
c.5846T>A (p.Leu1949His)
c.9074T>A (p.Leu3025His)
8g.99853603T>CCA371781022VPS13Bc.10289T>C (p.Leu3430Pro)
n.10359T>C
c.*5971T>C (n.*5971T>C)
c.10214T>C (p.Leu3405Pro)
c.10286T>C (p.Leu3429Pro)
c.10211T>C (p.Leu3404Pro)
c.9911T>C (p.Leu3304Pro)
c.7175T>C (p.Leu2392Pro)
c.6068T>C (p.Leu2023Pro)
c.10094T>C (p.Leu3365Pro)
c.5846T>C (p.Leu1949Pro)
c.9074T>C (p.Leu3025Pro)
 gnomAD v4
8g.99853603T>GCA371781023VPS13Bc.10289T>G (p.Leu3430Arg)
n.10359T>G
c.*5971T>G (n.*5971T>G)
c.10214T>G (p.Leu3405Arg)
c.10286T>G (p.Leu3429Arg)
c.10211T>G (p.Leu3404Arg)
c.9911T>G (p.Leu3304Arg)
c.7175T>G (p.Leu2392Arg)
c.6068T>G (p.Leu2023Arg)
c.10094T>G (p.Leu3365Arg)
c.5846T>G (p.Leu1949Arg)
c.9074T>G (p.Leu3025Arg)
8g.99853604C>ACA462458120VPS13Bc.10290C>A (p.Leu3430=)
n.10360C>A
c.*5972C>A (n.*5972C>A)
c.10215C>A (p.Leu3405=)
c.10287C>A (p.Leu3429=)
c.10212C>A (p.Leu3404=)
c.9912C>A (p.Leu3304=)
c.7176C>A (p.Leu2392=)
c.6069C>A (p.Leu2023=)
c.10095C>A (p.Leu3365=)
c.5847C>A (p.Leu1949=)
c.9075C>A (p.Leu3025=)
8g.99853604C>GCA462458121VPS13Bc.10290C>G (p.Leu3430=)
n.10360C>G
c.*5972C>G (n.*5972C>G)
c.10215C>G (p.Leu3405=)
c.10287C>G (p.Leu3429=)
c.10212C>G (p.Leu3404=)
c.9912C>G (p.Leu3304=)
c.7176C>G (p.Leu2392=)
c.6069C>G (p.Leu2023=)
c.10095C>G (p.Leu3365=)
c.5847C>G (p.Leu1949=)
c.9075C>G (p.Leu3025=)
8g.99853604C>TCA462458122VPS13Bc.10290C>T (p.Leu3430=)
n.10360C>T
c.*5972C>T (n.*5972C>T)
c.10215C>T (p.Leu3405=)
c.10287C>T (p.Leu3429=)
c.10212C>T (p.Leu3404=)
c.9912C>T (p.Leu3304=)
c.7176C>T (p.Leu2392=)
c.6069C>T (p.Leu2023=)
c.10095C>T (p.Leu3365=)
c.5847C>T (p.Leu1949=)
c.9075C>T (p.Leu3025=)
 ClinVar
8g.99853605C>ACA371781027VPS13Bc.10291C>A (p.Pro3431Thr)
n.10361C>A
c.*5973C>A (n.*5973C>A)
c.10216C>A (p.Pro3406Thr)
c.10288C>A (p.Pro3430Thr)
c.10213C>A (p.Pro3405Thr)
c.9913C>A (p.Pro3305Thr)
c.7177C>A (p.Pro2393Thr)
c.6070C>A (p.Pro2024Thr)
c.10096C>A (p.Pro3366Thr)
c.5848C>A (p.Pro1950Thr)
c.9076C>A (p.Pro3026Thr)
8g.99853605C>GCA371781028VPS13Bc.10291C>G (p.Pro3431Ala)
n.10361C>G
c.*5973C>G (n.*5973C>G)
c.10216C>G (p.Pro3406Ala)
c.10288C>G (p.Pro3430Ala)
c.10213C>G (p.Pro3405Ala)
c.9913C>G (p.Pro3305Ala)
c.7177C>G (p.Pro2393Ala)
c.6070C>G (p.Pro2024Ala)
c.10096C>G (p.Pro3366Ala)
c.5848C>G (p.Pro1950Ala)
c.9076C>G (p.Pro3026Ala)
8g.99853605C>TCA371781025VPS13Bc.10291C>T (p.Pro3431Ser)
n.10361C>T
c.*5973C>T (n.*5973C>T)
c.10216C>T (p.Pro3406Ser)
c.10288C>T (p.Pro3430Ser)
c.10213C>T (p.Pro3405Ser)
c.9913C>T (p.Pro3305Ser)
c.7177C>T (p.Pro2393Ser)
c.6070C>T (p.Pro2024Ser)
c.10096C>T (p.Pro3366Ser)
c.5848C>T (p.Pro1950Ser)
c.9076C>T (p.Pro3026Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853609_99853620delCA2688071977VPS13Bc.10295_10306del (p.Gly3432_Pro3435del)
n.10365_10376del
c.*5977_*5988del (n.*5977_*5988del)
c.10220_10231del (p.Gly3407_Pro3410del)
c.10292_10303del (p.Gly3431_Pro3434del)
c.10217_10228del (p.Gly3406_Pro3409del)
c.9917_9928del (p.Gly3306_Pro3309del)
c.7181_7192del (p.Gly2394_Pro2397del)
c.6074_6085del (p.Gly2025_Pro2028del)
c.10100_10111del (p.Gly3367_Pro3370del)
c.5852_5863del (p.Gly1951_Pro1954del)
c.9080_9091del (p.Gly3027_Pro3030del)
 gnomAD v4
8g.99853606C>ACA371781030VPS13Bc.10292C>A (p.Pro3431His)
n.10362C>A
c.*5974C>A (n.*5974C>A)
c.10217C>A (p.Pro3406His)
c.10289C>A (p.Pro3430His)
c.10214C>A (p.Pro3405His)
c.9914C>A (p.Pro3305His)
c.7178C>A (p.Pro2393His)
c.6071C>A (p.Pro2024His)
c.10097C>A (p.Pro3366His)
c.5849C>A (p.Pro1950His)
c.9077C>A (p.Pro3026His)
8g.99853606C>GCA371781031VPS13Bc.10292C>G (p.Pro3431Arg)
n.10362C>G
c.*5974C>G (n.*5974C>G)
c.10217C>G (p.Pro3406Arg)
c.10289C>G (p.Pro3430Arg)
c.10214C>G (p.Pro3405Arg)
c.9914C>G (p.Pro3305Arg)
c.7178C>G (p.Pro2393Arg)
c.6071C>G (p.Pro2024Arg)
c.10097C>G (p.Pro3366Arg)
c.5849C>G (p.Pro1950Arg)
c.9077C>G (p.Pro3026Arg)
8g.99853606C>TCA4824910VPS13Bc.10292C>T (p.Pro3431Leu)
n.10362C>T
c.*5974C>T (n.*5974C>T)
c.10217C>T (p.Pro3406Leu)
c.10289C>T (p.Pro3430Leu)
c.10214C>T (p.Pro3405Leu)
c.9914C>T (p.Pro3305Leu)
c.7178C>T (p.Pro2393Leu)
c.6071C>T (p.Pro2024Leu)
c.10097C>T (p.Pro3366Leu)
c.5849C>T (p.Pro1950Leu)
c.9077C>T (p.Pro3026Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853607delCA2579210870VPS13Bc.10293del (p.Glu3433LysfsTer22)
n.10363del
c.*5975del (n.*5975del)
c.10218del (p.Glu3408LysfsTer22)
c.10290del (p.Glu3432LysfsTer22)
c.10215del (p.Glu3407LysfsTer22)
c.9915del (p.Glu3307LysfsTer22)
c.7179del (p.Glu2395LysfsTer22)
c.6072del (p.Glu2026LysfsTer22)
c.10098del (p.Glu3368LysfsTer22)
c.5850del (p.Glu1952LysfsTer22)
c.9078del (p.Glu3028LysfsTer22)
8g.99853607T>ACA462458123VPS13Bc.10293T>A (p.Pro3431=)
n.10363T>A
c.*5975T>A (n.*5975T>A)
c.10218T>A (p.Pro3406=)
c.10290T>A (p.Pro3430=)
c.10215T>A (p.Pro3405=)
c.9915T>A (p.Pro3305=)
c.7179T>A (p.Pro2393=)
c.6072T>A (p.Pro2024=)
c.10098T>A (p.Pro3366=)
c.5850T>A (p.Pro1950=)
c.9078T>A (p.Pro3026=)
8g.99853607T>CCA462458124VPS13Bc.10293T>C (p.Pro3431=)
n.10363T>C
c.*5975T>C (n.*5975T>C)
c.10218T>C (p.Pro3406=)
c.10290T>C (p.Pro3430=)
c.10215T>C (p.Pro3405=)
c.9915T>C (p.Pro3305=)
c.7179T>C (p.Pro2393=)
c.6072T>C (p.Pro2024=)
c.10098T>C (p.Pro3366=)
c.5850T>C (p.Pro1950=)
c.9078T>C (p.Pro3026=)
8g.99853607T>GCA462458125VPS13Bc.10293T>G (p.Pro3431=)
n.10363T>G
c.*5975T>G (n.*5975T>G)
c.10218T>G (p.Pro3406=)
c.10290T>G (p.Pro3430=)
c.10215T>G (p.Pro3405=)
c.9915T>G (p.Pro3305=)
c.7179T>G (p.Pro2393=)
c.6072T>G (p.Pro2024=)
c.10098T>G (p.Pro3366=)
c.5850T>G (p.Pro1950=)
c.9078T>G (p.Pro3026=)
 gnomAD v4
8g.99853608G>ACA148905VPS13Bc.10294G>A (p.Gly3432Arg)
n.10364G>A
c.*5976G>A (n.*5976G>A)
c.10219G>A (p.Gly3407Arg)
c.10291G>A (p.Gly3431Arg)
c.10216G>A (p.Gly3406Arg)
c.9916G>A (p.Gly3306Arg)
c.7180G>A (p.Gly2394Arg)
c.6073G>A (p.Gly2025Arg)
c.10099G>A (p.Gly3367Arg)
c.5851G>A (p.Gly1951Arg)
c.9079G>A (p.Gly3027Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853608G>CCA4824911VPS13Bc.10294G>C (p.Gly3432Arg)
n.10364G>C
c.*5976G>C (n.*5976G>C)
c.10219G>C (p.Gly3407Arg)
c.10291G>C (p.Gly3431Arg)
c.10216G>C (p.Gly3406Arg)
c.9916G>C (p.Gly3306Arg)
c.7180G>C (p.Gly2394Arg)
c.6073G>C (p.Gly2025Arg)
c.10099G>C (p.Gly3367Arg)
c.5851G>C (p.Gly1951Arg)
c.9079G>C (p.Gly3027Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853608G=CA2497029192VPS13Bc.10294G= (p.Gly3432=)
n.10364G=
c.*5976G= (n.*5976G=)
c.10219G= (p.Gly3407=)
c.10291G= (p.Gly3431=)
c.10216G= (p.Gly3406=)
c.9916G= (p.Gly3306=)
c.7180G= (p.Gly2394=)
c.6073G= (p.Gly2025=)
c.10099G= (p.Gly3367=)
c.5851G= (p.Gly1951=)
c.9079G= (p.Gly3027=)
8g.99853608G>TCA371781035VPS13Bc.10294G>T (p.Gly3432Trp)
n.10364G>T
c.*5976G>T (n.*5976G>T)
c.10219G>T (p.Gly3407Trp)
c.10291G>T (p.Gly3431Trp)
c.10216G>T (p.Gly3406Trp)
c.9916G>T (p.Gly3306Trp)
c.7180G>T (p.Gly2394Trp)
c.6073G>T (p.Gly2025Trp)
c.10099G>T (p.Gly3367Trp)
c.5851G>T (p.Gly1951Trp)
c.9079G>T (p.Gly3027Trp)
8g.99853609G>ACA4824912VPS13Bc.10295G>A (p.Gly3432Glu)
n.10365G>A
c.*5977G>A (n.*5977G>A)
c.10220G>A (p.Gly3407Glu)
c.10292G>A (p.Gly3431Glu)
c.10217G>A (p.Gly3406Glu)
c.9917G>A (p.Gly3306Glu)
c.7181G>A (p.Gly2394Glu)
c.6074G>A (p.Gly2025Glu)
c.10100G>A (p.Gly3367Glu)
c.5852G>A (p.Gly1951Glu)
c.9080G>A (p.Gly3027Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853609G>CCA371781037VPS13Bc.10295G>C (p.Gly3432Ala)
n.10365G>C
c.*5977G>C (n.*5977G>C)
c.10220G>C (p.Gly3407Ala)
c.10292G>C (p.Gly3431Ala)
c.10217G>C (p.Gly3406Ala)
c.9917G>C (p.Gly3306Ala)
c.7181G>C (p.Gly2394Ala)
c.6074G>C (p.Gly2025Ala)
c.10100G>C (p.Gly3367Ala)
c.5852G>C (p.Gly1951Ala)
c.9080G>C (p.Gly3027Ala)
8g.99853609G>TCA371781036VPS13Bc.10295G>T (p.Gly3432Val)
n.10365G>T
c.*5977G>T (n.*5977G>T)
c.10220G>T (p.Gly3407Val)
c.10292G>T (p.Gly3431Val)
c.10217G>T (p.Gly3406Val)
c.9917G>T (p.Gly3306Val)
c.7181G>T (p.Gly2394Val)
c.6074G>T (p.Gly2025Val)
c.10100G>T (p.Gly3367Val)
c.5852G>T (p.Gly1951Val)
c.9080G>T (p.Gly3027Val)
8g.99853610G>ACA4824913VPS13Bc.10296G>A (p.Gly3432=)
n.10366G>A
c.*5978G>A (n.*5978G>A)
c.10221G>A (p.Gly3407=)
c.10293G>A (p.Gly3431=)
c.10218G>A (p.Gly3406=)
c.9918G>A (p.Gly3306=)
c.7182G>A (p.Gly2394=)
c.6075G>A (p.Gly2025=)
c.10101G>A (p.Gly3367=)
c.5853G>A (p.Gly1951=)
c.9081G>A (p.Gly3027=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853610G>CCA182314133VPS13Bc.10296G>C (p.Gly3432=)
n.10366G>C
c.*5978G>C (n.*5978G>C)
c.10221G>C (p.Gly3407=)
c.10293G>C (p.Gly3431=)
c.10218G>C (p.Gly3406=)
c.9918G>C (p.Gly3306=)
c.7182G>C (p.Gly2394=)
c.6075G>C (p.Gly2025=)
c.10101G>C (p.Gly3367=)
c.5853G>C (p.Gly1951=)
c.9081G>C (p.Gly3027=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853610G>TCA462458126VPS13Bc.10296G>T (p.Gly3432=)
n.10366G>T
c.*5978G>T (n.*5978G>T)
c.10221G>T (p.Gly3407=)
c.10293G>T (p.Gly3431=)
c.10218G>T (p.Gly3406=)
c.9918G>T (p.Gly3306=)
c.7182G>T (p.Gly2394=)
c.6075G>T (p.Gly2025=)
c.10101G>T (p.Gly3367=)
c.5853G>T (p.Gly1951=)
c.9081G>T (p.Gly3027=)
8g.99853611G>ACA371781040VPS13Bc.10297G>A (p.Glu3433Lys)
n.10367G>A
c.*5979G>A (n.*5979G>A)
c.10222G>A (p.Glu3408Lys)
c.10294G>A (p.Glu3432Lys)
c.10219G>A (p.Glu3407Lys)
c.9919G>A (p.Glu3307Lys)
c.7183G>A (p.Glu2395Lys)
c.6076G>A (p.Glu2026Lys)
c.10102G>A (p.Glu3368Lys)
c.5854G>A (p.Glu1952Lys)
c.9082G>A (p.Glu3028Lys)
 gnomAD v4
8g.99853611G>CCA371781044VPS13Bc.10297G>C (p.Glu3433Gln)
n.10367G>C
c.*5979G>C (n.*5979G>C)
c.10222G>C (p.Glu3408Gln)
c.10294G>C (p.Glu3432Gln)
c.10219G>C (p.Glu3407Gln)
c.9919G>C (p.Glu3307Gln)
c.7183G>C (p.Glu2395Gln)
c.6076G>C (p.Glu2026Gln)
c.10102G>C (p.Glu3368Gln)
c.5854G>C (p.Glu1952Gln)
c.9082G>C (p.Glu3028Gln)
 gnomAD v4
8g.99853611G>TCA371781046VPS13Bc.10297G>T (p.Glu3433Ter)
n.10367G>T
c.*5979G>T (n.*5979G>T)
c.10222G>T (p.Glu3408Ter)
c.10294G>T (p.Glu3432Ter)
c.10219G>T (p.Glu3407Ter)
c.9919G>T (p.Glu3307Ter)
c.7183G>T (p.Glu2395Ter)
c.6076G>T (p.Glu2026Ter)
c.10102G>T (p.Glu3368Ter)
c.5854G>T (p.Glu1952Ter)
c.9082G>T (p.Glu3028Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.99853612A>CCA371781048VPS13Bc.10298A>C (p.Glu3433Ala)
n.10368A>C
c.*5980A>C (n.*5980A>C)
c.10223A>C (p.Glu3408Ala)
c.10295A>C (p.Glu3432Ala)
c.10220A>C (p.Glu3407Ala)
c.9920A>C (p.Glu3307Ala)
c.7184A>C (p.Glu2395Ala)
c.6077A>C (p.Glu2026Ala)
c.10103A>C (p.Glu3368Ala)
c.5855A>C (p.Glu1952Ala)
c.9083A>C (p.Glu3028Ala)
8g.99853612A>GCA371781053VPS13Bc.10298A>G (p.Glu3433Gly)
n.10368A>G
c.*5980A>G (n.*5980A>G)
c.10223A>G (p.Glu3408Gly)
c.10295A>G (p.Glu3432Gly)
c.10220A>G (p.Glu3407Gly)
c.9920A>G (p.Glu3307Gly)
c.7184A>G (p.Glu2395Gly)
c.6077A>G (p.Glu2026Gly)
c.10103A>G (p.Glu3368Gly)
c.5855A>G (p.Glu1952Gly)
c.9083A>G (p.Glu3028Gly)
8g.99853612A>TCA371781050VPS13Bc.10298A>T (p.Glu3433Val)
n.10368A>T
c.*5980A>T (n.*5980A>T)
c.10223A>T (p.Glu3408Val)
c.10295A>T (p.Glu3432Val)
c.10220A>T (p.Glu3407Val)
c.9920A>T (p.Glu3307Val)
c.7184A>T (p.Glu2395Val)
c.6077A>T (p.Glu2026Val)
c.10103A>T (p.Glu3368Val)
c.5855A>T (p.Glu1952Val)
c.9083A>T (p.Glu3028Val)
8g.99853613A>CCA371781054VPS13Bc.10299A>C (p.Glu3433Asp)
n.10369A>C
c.*5981A>C (n.*5981A>C)
c.10224A>C (p.Glu3408Asp)
c.10296A>C (p.Glu3432Asp)
c.10221A>C (p.Glu3407Asp)
c.9921A>C (p.Glu3307Asp)
c.7185A>C (p.Glu2395Asp)
c.6078A>C (p.Glu2026Asp)
c.10104A>C (p.Glu3368Asp)
c.5856A>C (p.Glu1952Asp)
c.9084A>C (p.Glu3028Asp)
8g.99853613A>GCA462458127VPS13Bc.10299A>G (p.Glu3433=)
n.10369A>G
c.*5981A>G (n.*5981A>G)
c.10224A>G (p.Glu3408=)
c.10296A>G (p.Glu3432=)
c.10221A>G (p.Glu3407=)
c.9921A>G (p.Glu3307=)
c.7185A>G (p.Glu2395=)
c.6078A>G (p.Glu2026=)
c.10104A>G (p.Glu3368=)
c.5856A>G (p.Glu1952=)
c.9084A>G (p.Glu3028=)
8g.99853613A>TCA371781057VPS13Bc.10299A>T (p.Glu3433Asp)
n.10369A>T
c.*5981A>T (n.*5981A>T)
c.10224A>T (p.Glu3408Asp)
c.10296A>T (p.Glu3432Asp)
c.10221A>T (p.Glu3407Asp)
c.9921A>T (p.Glu3307Asp)
c.7185A>T (p.Glu2395Asp)
c.6078A>T (p.Glu2026Asp)
c.10104A>T (p.Glu3368Asp)
c.5856A>T (p.Glu1952Asp)
c.9084A>T (p.Glu3028Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853614G>ACA371781059VPS13Bc.10300G>A (p.Glu3434Lys)
n.10370G>A
c.*5982G>A (n.*5982G>A)
c.10225G>A (p.Glu3409Lys)
c.10297G>A (p.Glu3433Lys)
c.10222G>A (p.Glu3408Lys)
c.9922G>A (p.Glu3308Lys)
c.7186G>A (p.Glu2396Lys)
c.6079G>A (p.Glu2027Lys)
c.10105G>A (p.Glu3369Lys)
c.5857G>A (p.Glu1953Lys)
c.9085G>A (p.Glu3029Lys)
 gnomAD v4 COSMIC COSMIC
8g.99853614G>CCA371781061VPS13Bc.10300G>C (p.Glu3434Gln)
n.10370G>C
c.*5982G>C (n.*5982G>C)
c.10225G>C (p.Glu3409Gln)
c.10297G>C (p.Glu3433Gln)
c.10222G>C (p.Glu3408Gln)
c.9922G>C (p.Glu3308Gln)
c.7186G>C (p.Glu2396Gln)
c.6079G>C (p.Glu2027Gln)
c.10105G>C (p.Glu3369Gln)
c.5857G>C (p.Glu1953Gln)
c.9085G>C (p.Glu3029Gln)
8g.99853614G>TCA371781062VPS13Bc.10300G>T (p.Glu3434Ter)
n.10370G>T
c.*5982G>T (n.*5982G>T)
c.10225G>T (p.Glu3409Ter)
c.10297G>T (p.Glu3433Ter)
c.10222G>T (p.Glu3408Ter)
c.9922G>T (p.Glu3308Ter)
c.7186G>T (p.Glu2396Ter)
c.6079G>T (p.Glu2027Ter)
c.10105G>T (p.Glu3369Ter)
c.5857G>T (p.Glu1953Ter)
c.9085G>T (p.Glu3029Ter)
8g.99853615A>CCA371781063VPS13Bc.10301A>C (p.Glu3434Ala)
n.10371A>C
c.*5983A>C (n.*5983A>C)
c.10226A>C (p.Glu3409Ala)
c.10298A>C (p.Glu3433Ala)
c.10223A>C (p.Glu3408Ala)
c.9923A>C (p.Glu3308Ala)
c.7187A>C (p.Glu2396Ala)
c.6080A>C (p.Glu2027Ala)
c.10106A>C (p.Glu3369Ala)
c.5858A>C (p.Glu1953Ala)
c.9086A>C (p.Glu3029Ala)
8g.99853615A>GCA371781064VPS13Bc.10301A>G (p.Glu3434Gly)
n.10371A>G
c.*5983A>G (n.*5983A>G)
c.10226A>G (p.Glu3409Gly)
c.10298A>G (p.Glu3433Gly)
c.10223A>G (p.Glu3408Gly)
c.9923A>G (p.Glu3308Gly)
c.7187A>G (p.Glu2396Gly)
c.6080A>G (p.Glu2027Gly)
c.10106A>G (p.Glu3369Gly)
c.5858A>G (p.Glu1953Gly)
c.9086A>G (p.Glu3029Gly)
8g.99853615A>TCA371781065VPS13Bc.10301A>T (p.Glu3434Val)
n.10371A>T
c.*5983A>T (n.*5983A>T)
c.10226A>T (p.Glu3409Val)
c.10298A>T (p.Glu3433Val)
c.10223A>T (p.Glu3408Val)
c.9923A>T (p.Glu3308Val)
c.7187A>T (p.Glu2396Val)
c.6080A>T (p.Glu2027Val)
c.10106A>T (p.Glu3369Val)
c.5858A>T (p.Glu1953Val)
c.9086A>T (p.Glu3029Val)
8g.99853616G>ACA462458128VPS13Bc.10302G>A (p.Glu3434=)
n.10372G>A
c.*5984G>A (n.*5984G>A)
c.10227G>A (p.Glu3409=)
c.10299G>A (p.Glu3433=)
c.10224G>A (p.Glu3408=)
c.9924G>A (p.Glu3308=)
c.7188G>A (p.Glu2396=)
c.6081G>A (p.Glu2027=)
c.10107G>A (p.Glu3369=)
c.5859G>A (p.Glu1953=)
c.9087G>A (p.Glu3029=)
 ClinVar dbSNP gnomAD v4
8g.99853616G>CCA371781066VPS13Bc.10302G>C (p.Glu3434Asp)
n.10372G>C
c.*5984G>C (n.*5984G>C)
c.10227G>C (p.Glu3409Asp)
c.10299G>C (p.Glu3433Asp)
c.10224G>C (p.Glu3408Asp)
c.9924G>C (p.Glu3308Asp)
c.7188G>C (p.Glu2396Asp)
c.6081G>C (p.Glu2027Asp)
c.10107G>C (p.Glu3369Asp)
c.5859G>C (p.Glu1953Asp)
c.9087G>C (p.Glu3029Asp)
8g.99853616G>TCA371781067VPS13Bc.10302G>T (p.Glu3434Asp)
n.10372G>T
c.*5984G>T (n.*5984G>T)
c.10227G>T (p.Glu3409Asp)
c.10299G>T (p.Glu3433Asp)
c.10224G>T (p.Glu3408Asp)
c.9924G>T (p.Glu3308Asp)
c.7188G>T (p.Glu2396Asp)
c.6081G>T (p.Glu2027Asp)
c.10107G>T (p.Glu3369Asp)
c.5859G>T (p.Glu1953Asp)
c.9087G>T (p.Glu3029Asp)
8g.99853617C>ACA371781068VPS13Bc.10303C>A (p.Pro3435Thr)
n.10373C>A
c.*5985C>A (n.*5985C>A)
c.10228C>A (p.Pro3410Thr)
c.10300C>A (p.Pro3434Thr)
c.10225C>A (p.Pro3409Thr)
c.9925C>A (p.Pro3309Thr)
c.7189C>A (p.Pro2397Thr)
c.6082C>A (p.Pro2028Thr)
c.10108C>A (p.Pro3370Thr)
c.5860C>A (p.Pro1954Thr)
c.9088C>A (p.Pro3030Thr)
8g.99853617C>GCA371781070VPS13Bc.10303C>G (p.Pro3435Ala)
n.10373C>G
c.*5985C>G (n.*5985C>G)
c.10228C>G (p.Pro3410Ala)
c.10300C>G (p.Pro3434Ala)
c.10225C>G (p.Pro3409Ala)
c.9925C>G (p.Pro3309Ala)
c.7189C>G (p.Pro2397Ala)
c.6082C>G (p.Pro2028Ala)
c.10108C>G (p.Pro3370Ala)
c.5860C>G (p.Pro1954Ala)
c.9088C>G (p.Pro3030Ala)
8g.99853617C>TCA371781071VPS13Bc.10303C>T (p.Pro3435Ser)
n.10373C>T
c.*5985C>T (n.*5985C>T)
c.10228C>T (p.Pro3410Ser)
c.10300C>T (p.Pro3434Ser)
c.10225C>T (p.Pro3409Ser)
c.9925C>T (p.Pro3309Ser)
c.7189C>T (p.Pro2397Ser)
c.6082C>T (p.Pro2028Ser)
c.10108C>T (p.Pro3370Ser)
c.5860C>T (p.Pro1954Ser)
c.9088C>T (p.Pro3030Ser)
8g.99853618C>ACA371781079VPS13Bc.10304C>A (p.Pro3435His)
n.10374C>A
c.*5986C>A (n.*5986C>A)
c.10229C>A (p.Pro3410His)
c.10301C>A (p.Pro3434His)
c.10226C>A (p.Pro3409His)
c.9926C>A (p.Pro3309His)
c.7190C>A (p.Pro2397His)
c.6083C>A (p.Pro2028His)
c.10109C>A (p.Pro3370His)
c.5861C>A (p.Pro1954His)
c.9089C>A (p.Pro3030His)
8g.99853618C>GCA371781077VPS13Bc.10304C>G (p.Pro3435Arg)
n.10374C>G
c.*5986C>G (n.*5986C>G)
c.10229C>G (p.Pro3410Arg)
c.10301C>G (p.Pro3434Arg)
c.10226C>G (p.Pro3409Arg)
c.9926C>G (p.Pro3309Arg)
c.7190C>G (p.Pro2397Arg)
c.6083C>G (p.Pro2028Arg)
c.10109C>G (p.Pro3370Arg)
c.5861C>G (p.Pro1954Arg)
c.9089C>G (p.Pro3030Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99853618C>TCA371781075VPS13Bc.10304C>T (p.Pro3435Leu)
n.10374C>T
c.*5986C>T (n.*5986C>T)
c.10229C>T (p.Pro3410Leu)
c.10301C>T (p.Pro3434Leu)
c.10226C>T (p.Pro3409Leu)
c.9926C>T (p.Pro3309Leu)
c.7190C>T (p.Pro2397Leu)
c.6083C>T (p.Pro2028Leu)
c.10109C>T (p.Pro3370Leu)
c.5861C>T (p.Pro1954Leu)
c.9089C>T (p.Pro3030Leu)
8g.99853619T>ACA462458129VPS13Bc.10305T>A (p.Pro3435=)
n.10375T>A
c.*5987T>A (n.*5987T>A)
c.10230T>A (p.Pro3410=)
c.10302T>A (p.Pro3434=)
c.10227T>A (p.Pro3409=)
c.9927T>A (p.Pro3309=)
c.7191T>A (p.Pro2397=)
c.6084T>A (p.Pro2028=)
c.10110T>A (p.Pro3370=)
c.5862T>A (p.Pro1954=)
c.9090T>A (p.Pro3030=)
8g.99853619T>CCA462458130VPS13Bc.10305T>C (p.Pro3435=)
n.10375T>C
c.*5987T>C (n.*5987T>C)
c.10230T>C (p.Pro3410=)
c.10302T>C (p.Pro3434=)
c.10227T>C (p.Pro3409=)
c.9927T>C (p.Pro3309=)
c.7191T>C (p.Pro2397=)
c.6084T>C (p.Pro2028=)
c.10110T>C (p.Pro3370=)
c.5862T>C (p.Pro1954=)
c.9090T>C (p.Pro3030=)
 gnomAD v4
8g.99853619T>GCA462458131VPS13Bc.10305T>G (p.Pro3435=)
n.10375T>G
c.*5987T>G (n.*5987T>G)
c.10230T>G (p.Pro3410=)
c.10302T>G (p.Pro3434=)
c.10227T>G (p.Pro3409=)
c.9927T>G (p.Pro3309=)
c.7191T>G (p.Pro2397=)
c.6084T>G (p.Pro2028=)
c.10110T>G (p.Pro3370=)
c.5862T>G (p.Pro1954=)
c.9090T>G (p.Pro3030=)
 dbSNP gnomAD v3 gnomAD v4
8g.99853620G>ACA371781080VPS13Bc.10306G>A (p.Val3436Met)
n.10376G>A
c.*5988G>A (n.*5988G>A)
c.10231G>A (p.Val3411Met)
c.10303G>A (p.Val3435Met)
c.10228G>A (p.Val3410Met)
c.9928G>A (p.Val3310Met)
c.7192G>A (p.Val2398Met)
c.6085G>A (p.Val2029Met)
c.10111G>A (p.Val3371Met)
c.5863G>A (p.Val1955Met)
c.9091G>A (p.Val3031Met)
 dbSNP
8g.99853620G>CCA371781082VPS13Bc.10306G>C (p.Val3436Leu)
n.10376G>C
c.*5988G>C (n.*5988G>C)
c.10231G>C (p.Val3411Leu)
c.10303G>C (p.Val3435Leu)
c.10228G>C (p.Val3410Leu)
c.9928G>C (p.Val3310Leu)
c.7192G>C (p.Val2398Leu)
c.6085G>C (p.Val2029Leu)
c.10111G>C (p.Val3371Leu)
c.5863G>C (p.Val1955Leu)
c.9091G>C (p.Val3031Leu)
8g.99853620G>TCA371781084VPS13Bc.10306G>T (p.Val3436Leu)
n.10376G>T
c.*5988G>T (n.*5988G>T)
c.10231G>T (p.Val3411Leu)
c.10303G>T (p.Val3435Leu)
c.10228G>T (p.Val3410Leu)
c.9928G>T (p.Val3310Leu)
c.7192G>T (p.Val2398Leu)
c.6085G>T (p.Val2029Leu)
c.10111G>T (p.Val3371Leu)
c.5863G>T (p.Val1955Leu)
c.9091G>T (p.Val3031Leu)
8g.99853621T>ACA371781086VPS13Bc.10307T>A (p.Val3436Glu)
n.10377T>A
c.*5989T>A (n.*5989T>A)
c.10232T>A (p.Val3411Glu)
c.10304T>A (p.Val3435Glu)
c.10229T>A (p.Val3410Glu)
c.9929T>A (p.Val3310Glu)
c.7193T>A (p.Val2398Glu)
c.6086T>A (p.Val2029Glu)
c.10112T>A (p.Val3371Glu)
c.5864T>A (p.Val1955Glu)
c.9092T>A (p.Val3031Glu)
8g.99853621T>CCA371781087VPS13Bc.10307T>C (p.Val3436Ala)
n.10377T>C
c.*5989T>C (n.*5989T>C)
c.10232T>C (p.Val3411Ala)
c.10304T>C (p.Val3435Ala)
c.10229T>C (p.Val3410Ala)
c.9929T>C (p.Val3310Ala)
c.7193T>C (p.Val2398Ala)
c.6086T>C (p.Val2029Ala)
c.10112T>C (p.Val3371Ala)
c.5864T>C (p.Val1955Ala)
c.9092T>C (p.Val3031Ala)
8g.99853621T>GCA371781090VPS13Bc.10307T>G (p.Val3436Gly)
n.10377T>G
c.*5989T>G (n.*5989T>G)
c.10232T>G (p.Val3411Gly)
c.10304T>G (p.Val3435Gly)
c.10229T>G (p.Val3410Gly)
c.9929T>G (p.Val3310Gly)
c.7193T>G (p.Val2398Gly)
c.6086T>G (p.Val2029Gly)
c.10112T>G (p.Val3371Gly)
c.5864T>G (p.Val1955Gly)
c.9092T>G (p.Val3031Gly)
 ClinVar
8g.99853622G>ACA462458132VPS13Bc.10308G>A (p.Val3436=)
n.10378G>A
c.*5990G>A (n.*5990G>A)
c.10233G>A (p.Val3411=)
c.10305G>A (p.Val3435=)
c.10230G>A (p.Val3410=)
c.9930G>A (p.Val3310=)
c.7194G>A (p.Val2398=)
c.6087G>A (p.Val2029=)
c.10113G>A (p.Val3371=)
c.5865G>A (p.Val1955=)
c.9093G>A (p.Val3031=)
 ClinVar
8g.99853622G>CCA462458133VPS13Bc.10308G>C (p.Val3436=)
n.10378G>C
c.*5990G>C (n.*5990G>C)
c.10233G>C (p.Val3411=)
c.10305G>C (p.Val3435=)
c.10230G>C (p.Val3410=)
c.9930G>C (p.Val3310=)
c.7194G>C (p.Val2398=)
c.6087G>C (p.Val2029=)
c.10113G>C (p.Val3371=)
c.5865G>C (p.Val1955=)
c.9093G>C (p.Val3031=)
 ClinVar
8g.99853622G>TCA462458134VPS13Bc.10308G>T (p.Val3436=)
n.10378G>T
c.*5990G>T (n.*5990G>T)
c.10233G>T (p.Val3411=)
c.10305G>T (p.Val3435=)
c.10230G>T (p.Val3410=)
c.9930G>T (p.Val3310=)
c.7194G>T (p.Val2398=)
c.6087G>T (p.Val2029=)
c.10113G>T (p.Val3371=)
c.5865G>T (p.Val1955=)
c.9093G>T (p.Val3031=)
8g.99853623G>ACA371781092VPS13Bc.10309G>A (p.Ala3437Thr)
n.10379G>A
c.*5991G>A (n.*5991G>A)
c.10234G>A (p.Ala3412Thr)
c.10306G>A (p.Ala3436Thr)
c.10231G>A (p.Ala3411Thr)
c.9931G>A (p.Ala3311Thr)
c.7195G>A (p.Ala2399Thr)
c.6088G>A (p.Ala2030Thr)
c.10114G>A (p.Ala3372Thr)
c.5866G>A (p.Ala1956Thr)
c.9094G>A (p.Ala3032Thr)
 dbSNP
8g.99853623G>CCA371781094VPS13Bc.10309G>C (p.Ala3437Pro)
n.10379G>C
c.*5991G>C (n.*5991G>C)
c.10234G>C (p.Ala3412Pro)
c.10306G>C (p.Ala3436Pro)
c.10231G>C (p.Ala3411Pro)
c.9931G>C (p.Ala3311Pro)
c.7195G>C (p.Ala2399Pro)
c.6088G>C (p.Ala2030Pro)
c.10114G>C (p.Ala3372Pro)
c.5866G>C (p.Ala1956Pro)
c.9094G>C (p.Ala3032Pro)
8g.99853623G>TCA182314134VPS13Bc.10309G>T (p.Ala3437Ser)
n.10379G>T
c.*5991G>T (n.*5991G>T)
c.10234G>T (p.Ala3412Ser)
c.10306G>T (p.Ala3436Ser)
c.10231G>T (p.Ala3411Ser)
c.9931G>T (p.Ala3311Ser)
c.7195G>T (p.Ala2399Ser)
c.6088G>T (p.Ala2030Ser)
c.10114G>T (p.Ala3372Ser)
c.5866G>T (p.Ala1956Ser)
c.9094G>T (p.Ala3032Ser)
 dbSNP
8g.99853624C>ACA371781097VPS13Bc.10310C>A (p.Ala3437Asp)
n.10380C>A
c.*5992C>A (n.*5992C>A)
c.10235C>A (p.Ala3412Asp)
c.10307C>A (p.Ala3436Asp)
c.10232C>A (p.Ala3411Asp)
c.9932C>A (p.Ala3311Asp)
c.7196C>A (p.Ala2399Asp)
c.6089C>A (p.Ala2030Asp)
c.10115C>A (p.Ala3372Asp)
c.5867C>A (p.Ala1956Asp)
c.9095C>A (p.Ala3032Asp)
8g.99853624C>GCA371781098VPS13Bc.10310C>G (p.Ala3437Gly)
n.10380C>G
c.*5992C>G (n.*5992C>G)
c.10235C>G (p.Ala3412Gly)
c.10307C>G (p.Ala3436Gly)
c.10232C>G (p.Ala3411Gly)
c.9932C>G (p.Ala3311Gly)
c.7196C>G (p.Ala2399Gly)
c.6089C>G (p.Ala2030Gly)
c.10115C>G (p.Ala3372Gly)
c.5867C>G (p.Ala1956Gly)
c.9095C>G (p.Ala3032Gly)
8g.99853624C>TCA4824914VPS13Bc.10310C>T (p.Ala3437Val)
n.10380C>T
c.*5992C>T (n.*5992C>T)
c.10235C>T (p.Ala3412Val)
c.10307C>T (p.Ala3436Val)
c.10232C>T (p.Ala3411Val)
c.9932C>T (p.Ala3311Val)
c.7196C>T (p.Ala2399Val)
c.6089C>T (p.Ala2030Val)
c.10115C>T (p.Ala3372Val)
c.5867C>T (p.Ala1956Val)
c.9095C>T (p.Ala3032Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853625T>ACA462458135VPS13Bc.10311T>A (p.Ala3437=)
n.10381T>A
c.*5993T>A (n.*5993T>A)
c.10236T>A (p.Ala3412=)
c.10308T>A (p.Ala3436=)
c.10233T>A (p.Ala3411=)
c.9933T>A (p.Ala3311=)
c.7197T>A (p.Ala2399=)
c.6090T>A (p.Ala2030=)
c.10116T>A (p.Ala3372=)
c.5868T>A (p.Ala1956=)
c.9096T>A (p.Ala3032=)
8g.99853625T>CCA462458136VPS13Bc.10311T>C (p.Ala3437=)
n.10381T>C
c.*5993T>C (n.*5993T>C)
c.10236T>C (p.Ala3412=)
c.10308T>C (p.Ala3436=)
c.10233T>C (p.Ala3411=)
c.9933T>C (p.Ala3311=)
c.7197T>C (p.Ala2399=)
c.6090T>C (p.Ala2030=)
c.10116T>C (p.Ala3372=)
c.5868T>C (p.Ala1956=)
c.9096T>C (p.Ala3032=)
8g.99853625T>GCA462458137VPS13Bc.10311T>G (p.Ala3437=)
n.10381T>G
c.*5993T>G (n.*5993T>G)
c.10236T>G (p.Ala3412=)
c.10308T>G (p.Ala3436=)
c.10233T>G (p.Ala3411=)
c.9933T>G (p.Ala3311=)
c.7197T>G (p.Ala2399=)
c.6090T>G (p.Ala2030=)
c.10116T>G (p.Ala3372=)
c.5868T>G (p.Ala1956=)
c.9096T>G (p.Ala3032=)
8g.99853626G>ACA371781100VPS13Bc.10312G>A (p.Ala3438Thr)
n.10382G>A
c.*5994G>A (n.*5994G>A)
c.10237G>A (p.Ala3413Thr)
c.10309G>A (p.Ala3437Thr)
c.10234G>A (p.Ala3412Thr)
c.9934G>A (p.Ala3312Thr)
c.7198G>A (p.Ala2400Thr)
c.6091G>A (p.Ala2031Thr)
c.10117G>A (p.Ala3373Thr)
c.5869G>A (p.Ala1957Thr)
c.9097G>A (p.Ala3033Thr)
 dbSNP
8g.99853626G>CCA371781102VPS13Bc.10312G>C (p.Ala3438Pro)
n.10382G>C
c.*5994G>C (n.*5994G>C)
c.10237G>C (p.Ala3413Pro)
c.10309G>C (p.Ala3437Pro)
c.10234G>C (p.Ala3412Pro)
c.9934G>C (p.Ala3312Pro)
c.7198G>C (p.Ala2400Pro)
c.6091G>C (p.Ala2031Pro)
c.10117G>C (p.Ala3373Pro)
c.5869G>C (p.Ala1957Pro)
c.9097G>C (p.Ala3033Pro)
8g.99853626G>TCA4824915VPS13Bc.10312G>T (p.Ala3438Ser)
n.10382G>T
c.*5994G>T (n.*5994G>T)
c.10237G>T (p.Ala3413Ser)
c.10309G>T (p.Ala3437Ser)
c.10234G>T (p.Ala3412Ser)
c.9934G>T (p.Ala3312Ser)
c.7198G>T (p.Ala2400Ser)
c.6091G>T (p.Ala2031Ser)
c.10117G>T (p.Ala3373Ser)
c.5869G>T (p.Ala1957Ser)
c.9097G>T (p.Ala3033Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853627C>ACA371781105VPS13Bc.10313C>A (p.Ala3438Glu)
n.10383C>A
c.*5995C>A (n.*5995C>A)
c.10238C>A (p.Ala3413Glu)
c.10310C>A (p.Ala3437Glu)
c.10235C>A (p.Ala3412Glu)
c.9935C>A (p.Ala3312Glu)
c.7199C>A (p.Ala2400Glu)
c.6092C>A (p.Ala2031Glu)
c.10118C>A (p.Ala3373Glu)
c.5870C>A (p.Ala1957Glu)
c.9098C>A (p.Ala3033Glu)
8g.99853627C>GCA371781107VPS13Bc.10313C>G (p.Ala3438Gly)
n.10383C>G
c.*5995C>G (n.*5995C>G)
c.10238C>G (p.Ala3413Gly)
c.10310C>G (p.Ala3437Gly)
c.10235C>G (p.Ala3412Gly)
c.9935C>G (p.Ala3312Gly)
c.7199C>G (p.Ala2400Gly)
c.6092C>G (p.Ala2031Gly)
c.10118C>G (p.Ala3373Gly)
c.5870C>G (p.Ala1957Gly)
c.9098C>G (p.Ala3033Gly)
 dbSNP gnomAD v2
8g.99853627C>TCA182314151VPS13Bc.10313C>T (p.Ala3438Val)
n.10383C>T
c.*5995C>T (n.*5995C>T)
c.10238C>T (p.Ala3413Val)
c.10310C>T (p.Ala3437Val)
c.10235C>T (p.Ala3412Val)
c.9935C>T (p.Ala3312Val)
c.7199C>T (p.Ala2400Val)
c.6092C>T (p.Ala2031Val)
c.10118C>T (p.Ala3373Val)
c.5870C>T (p.Ala1957Val)
c.9098C>T (p.Ala3033Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853628G>ACA4824916VPS13Bc.10314G>A (p.Ala3438=)
n.10384G>A
c.*5996G>A (n.*5996G>A)
c.10239G>A (p.Ala3413=)
c.10311G>A (p.Ala3437=)
c.10236G>A (p.Ala3412=)
c.9936G>A (p.Ala3312=)
c.7200G>A (p.Ala2400=)
c.6093G>A (p.Ala2031=)
c.10119G>A (p.Ala3373=)
c.5871G>A (p.Ala1957=)
c.9099G>A (p.Ala3033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853628G>CCA462458138VPS13Bc.10314G>C (p.Ala3438=)
n.10384G>C
c.*5996G>C (n.*5996G>C)
c.10239G>C (p.Ala3413=)
c.10311G>C (p.Ala3437=)
c.10236G>C (p.Ala3412=)
c.9936G>C (p.Ala3312=)
c.7200G>C (p.Ala2400=)
c.6093G>C (p.Ala2031=)
c.10119G>C (p.Ala3373=)
c.5871G>C (p.Ala1957=)
c.9099G>C (p.Ala3033=)
8g.99853628G>TCA462458139VPS13Bc.10314G>T (p.Ala3438=)
n.10384G>T
c.*5996G>T (n.*5996G>T)
c.10239G>T (p.Ala3413=)
c.10311G>T (p.Ala3437=)
c.10236G>T (p.Ala3412=)
c.9936G>T (p.Ala3312=)
c.7200G>T (p.Ala2400=)
c.6093G>T (p.Ala2031=)
c.10119G>T (p.Ala3373=)
c.5871G>T (p.Ala1957=)
c.9099G>T (p.Ala3033=)
8g.99853629T>ACA371781110VPS13Bc.10315T>A (p.Leu3439Met)
n.10385T>A
c.*5997T>A (n.*5997T>A)
c.10240T>A (p.Leu3414Met)
c.10312T>A (p.Leu3438Met)
c.10237T>A (p.Leu3413Met)
c.9937T>A (p.Leu3313Met)
c.7201T>A (p.Leu2401Met)
c.6094T>A (p.Leu2032Met)
c.10120T>A (p.Leu3374Met)
c.5872T>A (p.Leu1958Met)
c.9100T>A (p.Leu3034Met)
8g.99853629T>CCA246447VPS13Bc.10315T>C (p.Leu3439=)
n.10385T>C
c.*5997T>C (n.*5997T>C)
c.10240T>C (p.Leu3414=)
c.10312T>C (p.Leu3438=)
c.10237T>C (p.Leu3413=)
c.9937T>C (p.Leu3313=)
c.7201T>C (p.Leu2401=)
c.6094T>C (p.Leu2032=)
c.10120T>C (p.Leu3374=)
c.5872T>C (p.Leu1958=)
c.9100T>C (p.Leu3034=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853629T>GCA371781113VPS13Bc.10315T>G (p.Leu3439Val)
n.10385T>G
c.*5997T>G (n.*5997T>G)
c.10240T>G (p.Leu3414Val)
c.10312T>G (p.Leu3438Val)
c.10237T>G (p.Leu3413Val)
c.9937T>G (p.Leu3313Val)
c.7201T>G (p.Leu2401Val)
c.6094T>G (p.Leu2032Val)
c.10120T>G (p.Leu3374Val)
c.5872T>G (p.Leu1958Val)
c.9100T>G (p.Leu3034Val)
 dbSNP gnomAD v2
8g.99853630T>ACA371781115VPS13Bc.10316T>A (p.Leu3439Ter)
n.10386T>A
c.*5998T>A (n.*5998T>A)
c.10241T>A (p.Leu3414Ter)
c.10313T>A (p.Leu3438Ter)
c.10238T>A (p.Leu3413Ter)
c.9938T>A (p.Leu3313Ter)
c.7202T>A (p.Leu2401Ter)
c.6095T>A (p.Leu2032Ter)
c.10121T>A (p.Leu3374Ter)
c.5873T>A (p.Leu1958Ter)
c.9101T>A (p.Leu3034Ter)
8g.99853630T>CCA4824917VPS13Bc.10316T>C (p.Leu3439Ser)
n.10386T>C
c.*5998T>C (n.*5998T>C)
c.10241T>C (p.Leu3414Ser)
c.10313T>C (p.Leu3438Ser)
c.10238T>C (p.Leu3413Ser)
c.9938T>C (p.Leu3313Ser)
c.7202T>C (p.Leu2401Ser)
c.6095T>C (p.Leu2032Ser)
c.10121T>C (p.Leu3374Ser)
c.5873T>C (p.Leu1958Ser)
c.9101T>C (p.Leu3034Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853630T>GCA371781118VPS13Bc.10316T>G (p.Leu3439Trp)
n.10386T>G
c.*5998T>G (n.*5998T>G)
c.10241T>G (p.Leu3414Trp)
c.10313T>G (p.Leu3438Trp)
c.10238T>G (p.Leu3413Trp)
c.9938T>G (p.Leu3313Trp)
c.7202T>G (p.Leu2401Trp)
c.6095T>G (p.Leu2032Trp)
c.10121T>G (p.Leu3374Trp)
c.5873T>G (p.Leu1958Trp)
c.9101T>G (p.Leu3034Trp)
8g.99853631G>ACA462458140VPS13Bc.10317G>A (p.Leu3439=)
n.10387G>A
c.*5999G>A (n.*5999G>A)
c.10242G>A (p.Leu3414=)
c.10314G>A (p.Leu3438=)
c.10239G>A (p.Leu3413=)
c.9939G>A (p.Leu3313=)
c.7203G>A (p.Leu2401=)
c.6096G>A (p.Leu2032=)
c.10122G>A (p.Leu3374=)
c.5874G>A (p.Leu1958=)
c.9102G>A (p.Leu3034=)
 gnomAD v4
8g.99853631G>CCA371781120VPS13Bc.10317G>C (p.Leu3439Phe)
n.10387G>C
c.*5999G>C (n.*5999G>C)
c.10242G>C (p.Leu3414Phe)
c.10314G>C (p.Leu3438Phe)
c.10239G>C (p.Leu3413Phe)
c.9939G>C (p.Leu3313Phe)
c.7203G>C (p.Leu2401Phe)
c.6096G>C (p.Leu2032Phe)
c.10122G>C (p.Leu3374Phe)
c.5874G>C (p.Leu1958Phe)
c.9102G>C (p.Leu3034Phe)
 gnomAD v4
8g.99853631G>TCA4824918VPS13Bc.10317G>T (p.Leu3439Phe)
n.10387G>T
c.*5999G>T (n.*5999G>T)
c.10242G>T (p.Leu3414Phe)
c.10314G>T (p.Leu3438Phe)
c.10239G>T (p.Leu3413Phe)
c.9939G>T (p.Leu3313Phe)
c.7203G>T (p.Leu2401Phe)
c.6096G>T (p.Leu2032Phe)
c.10122G>T (p.Leu3374Phe)
c.5874G>T (p.Leu1958Phe)
c.9102G>T (p.Leu3034Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853632T>ACA371781125VPS13Bc.10318T>A (p.Phe3440Ile)
n.10388T>A
c.*6000T>A (n.*6000T>A)
c.10243T>A (p.Phe3415Ile)
c.10315T>A (p.Phe3439Ile)
c.10240T>A (p.Phe3414Ile)
c.9940T>A (p.Phe3314Ile)
c.7204T>A (p.Phe2402Ile)
c.6097T>A (p.Phe2033Ile)
c.10123T>A (p.Phe3375Ile)
c.5875T>A (p.Phe1959Ile)
c.9103T>A (p.Phe3035Ile)
8g.99853632T>CCA371781127VPS13Bc.10318T>C (p.Phe3440Leu)
n.10388T>C
c.*6000T>C (n.*6000T>C)
c.10243T>C (p.Phe3415Leu)
c.10315T>C (p.Phe3439Leu)
c.10240T>C (p.Phe3414Leu)
c.9940T>C (p.Phe3314Leu)
c.7204T>C (p.Phe2402Leu)
c.6097T>C (p.Phe2033Leu)
c.10123T>C (p.Phe3375Leu)
c.5875T>C (p.Phe1959Leu)
c.9103T>C (p.Phe3035Leu)
8g.99853632T>GCA371781123VPS13Bc.10318T>G (p.Phe3440Val)
n.10388T>G
c.*6000T>G (n.*6000T>G)
c.10243T>G (p.Phe3415Val)
c.10315T>G (p.Phe3439Val)
c.10240T>G (p.Phe3414Val)
c.9940T>G (p.Phe3314Val)
c.7204T>G (p.Phe2402Val)
c.6097T>G (p.Phe2033Val)
c.10123T>G (p.Phe3375Val)
c.5875T>G (p.Phe1959Val)
c.9103T>G (p.Phe3035Val)
8g.99853634delCA2688072050VPS13Bc.10320del (p.Phe3440LeufsTer15)
n.10390del
c.*6002del (n.*6002del)
c.10245del (p.Phe3415LeufsTer15)
c.10317del (p.Phe3439LeufsTer15)
c.10242del (p.Phe3414LeufsTer15)
c.9942del (p.Phe3314LeufsTer15)
c.7206del (p.Phe2402LeufsTer15)
c.6099del (p.Phe2033LeufsTer15)
c.10125del (p.Phe3375LeufsTer15)
c.5877del (p.Phe1959LeufsTer15)
c.9105del (p.Phe3035LeufsTer15)
 gnomAD v4
8g.99853635_99853641delCA583848098VPS13Bc.10321_10327del (p.Glu3441ThrfsTer12)
n.10391_10397del
c.*6003_*6009del (n.*6003_*6009del)
c.10246_10252del (p.Glu3416ThrfsTer12)
c.10318_10324del (p.Glu3440ThrfsTer12)
c.10243_10249del (p.Glu3415ThrfsTer12)
c.9943_9949del (p.Glu3315ThrfsTer12)
c.7207_7213del (p.Glu2403ThrfsTer12)
c.6100_6106del (p.Glu2034ThrfsTer12)
c.10126_10132del (p.Glu3376ThrfsTer12)
c.5878_5884del (p.Glu1960ThrfsTer12)
c.9106_9112del (p.Glu3036ThrfsTer12)
 dbSNP gnomAD v2 gnomAD v4
8g.99853633T>ACA371781129VPS13Bc.10319T>A (p.Phe3440Tyr)
n.10389T>A
c.*6001T>A (n.*6001T>A)
c.10244T>A (p.Phe3415Tyr)
c.10316T>A (p.Phe3439Tyr)
c.10241T>A (p.Phe3414Tyr)
c.9941T>A (p.Phe3314Tyr)
c.7205T>A (p.Phe2402Tyr)
c.6098T>A (p.Phe2033Tyr)
c.10124T>A (p.Phe3375Tyr)
c.5876T>A (p.Phe1959Tyr)
c.9104T>A (p.Phe3035Tyr)
8g.99853633T>CCA371781131VPS13Bc.10319T>C (p.Phe3440Ser)
n.10389T>C
c.*6001T>C (n.*6001T>C)
c.10244T>C (p.Phe3415Ser)
c.10316T>C (p.Phe3439Ser)
c.10241T>C (p.Phe3414Ser)
c.9941T>C (p.Phe3314Ser)
c.7205T>C (p.Phe2402Ser)
c.6098T>C (p.Phe2033Ser)
c.10124T>C (p.Phe3375Ser)
c.5876T>C (p.Phe1959Ser)
c.9104T>C (p.Phe3035Ser)
8g.99853633T>GCA371781132VPS13Bc.10319T>G (p.Phe3440Cys)
n.10389T>G
c.*6001T>G (n.*6001T>G)
c.10244T>G (p.Phe3415Cys)
c.10316T>G (p.Phe3439Cys)
c.10241T>G (p.Phe3414Cys)
c.9941T>G (p.Phe3314Cys)
c.7205T>G (p.Phe2402Cys)
c.6098T>G (p.Phe2033Cys)
c.10124T>G (p.Phe3375Cys)
c.5876T>G (p.Phe1959Cys)
c.9104T>G (p.Phe3035Cys)
8g.99853634T>ACA371781134VPS13Bc.10320T>A (p.Phe3440Leu)
n.10390T>A
c.*6002T>A (n.*6002T>A)
c.10245T>A (p.Phe3415Leu)
c.10317T>A (p.Phe3439Leu)
c.10242T>A (p.Phe3414Leu)
c.9942T>A (p.Phe3314Leu)
c.7206T>A (p.Phe2402Leu)
c.6099T>A (p.Phe2033Leu)
c.10125T>A (p.Phe3375Leu)
c.5877T>A (p.Phe1959Leu)
c.9105T>A (p.Phe3035Leu)
8g.99853634T>CCA462458141VPS13Bc.10320T>C (p.Phe3440=)
n.10390T>C
c.*6002T>C (n.*6002T>C)
c.10245T>C (p.Phe3415=)
c.10317T>C (p.Phe3439=)
c.10242T>C (p.Phe3414=)
c.9942T>C (p.Phe3314=)
c.7206T>C (p.Phe2402=)
c.6099T>C (p.Phe2033=)
c.10125T>C (p.Phe3375=)
c.5877T>C (p.Phe1959=)
c.9105T>C (p.Phe3035=)
 dbSNP gnomAD v4
8g.99853634T>GCA371781139VPS13Bc.10320T>G (p.Phe3440Leu)
n.10390T>G
c.*6002T>G (n.*6002T>G)
c.10245T>G (p.Phe3415Leu)
c.10317T>G (p.Phe3439Leu)
c.10242T>G (p.Phe3414Leu)
c.9942T>G (p.Phe3314Leu)
c.7206T>G (p.Phe2402Leu)
c.6099T>G (p.Phe2033Leu)
c.10125T>G (p.Phe3375Leu)
c.5877T>G (p.Phe1959Leu)
c.9105T>G (p.Phe3035Leu)
 gnomAD v4
8g.99853635G>ACA371781146VPS13Bc.10321G>A (p.Glu3441Lys)
n.10391G>A
c.*6003G>A (n.*6003G>A)
c.10246G>A (p.Glu3416Lys)
c.10318G>A (p.Glu3440Lys)
c.10243G>A (p.Glu3415Lys)
c.9943G>A (p.Glu3315Lys)
c.7207G>A (p.Glu2403Lys)
c.6100G>A (p.Glu2034Lys)
c.10126G>A (p.Glu3376Lys)
c.5878G>A (p.Glu1960Lys)
c.9106G>A (p.Glu3036Lys)
 ClinVar gnomAD v4
8g.99853635G>CCA371781142VPS13Bc.10321G>C (p.Glu3441Gln)
n.10391G>C
c.*6003G>C (n.*6003G>C)
c.10246G>C (p.Glu3416Gln)
c.10318G>C (p.Glu3440Gln)
c.10243G>C (p.Glu3415Gln)
c.9943G>C (p.Glu3315Gln)
c.7207G>C (p.Glu2403Gln)
c.6100G>C (p.Glu2034Gln)
c.10126G>C (p.Glu3376Gln)
c.5878G>C (p.Glu1960Gln)
c.9106G>C (p.Glu3036Gln)
 COSMIC COSMIC
8g.99853635G>TCA371781144VPS13Bc.10321G>T (p.Glu3441Ter)
n.10391G>T
c.*6003G>T (n.*6003G>T)
c.10246G>T (p.Glu3416Ter)
c.10318G>T (p.Glu3440Ter)
c.10243G>T (p.Glu3415Ter)
c.9943G>T (p.Glu3315Ter)
c.7207G>T (p.Glu2403Ter)
c.6100G>T (p.Glu2034Ter)
c.10126G>T (p.Glu3376Ter)
c.5878G>T (p.Glu1960Ter)
c.9106G>T (p.Glu3036Ter)
8g.99853636A>CCA371781149VPS13Bc.10322A>C (p.Glu3441Ala)
n.10392A>C
c.*6004A>C (n.*6004A>C)
c.10247A>C (p.Glu3416Ala)
c.10319A>C (p.Glu3440Ala)
c.10244A>C (p.Glu3415Ala)
c.9944A>C (p.Glu3315Ala)
c.7208A>C (p.Glu2403Ala)
c.6101A>C (p.Glu2034Ala)
c.10127A>C (p.Glu3376Ala)
c.5879A>C (p.Glu1960Ala)
c.9107A>C (p.Glu3036Ala)
8g.99853636A>GCA4824919VPS13Bc.10322A>G (p.Glu3441Gly)
n.10392A>G
c.*6004A>G (n.*6004A>G)
c.10247A>G (p.Glu3416Gly)
c.10319A>G (p.Glu3440Gly)
c.10244A>G (p.Glu3415Gly)
c.9944A>G (p.Glu3315Gly)
c.7208A>G (p.Glu2403Gly)
c.6101A>G (p.Glu2034Gly)
c.10127A>G (p.Glu3376Gly)
c.5879A>G (p.Glu1960Gly)
c.9107A>G (p.Glu3036Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853636A>TCA371781151VPS13Bc.10322A>T (p.Glu3441Val)
n.10392A>T
c.*6004A>T (n.*6004A>T)
c.10247A>T (p.Glu3416Val)
c.10319A>T (p.Glu3440Val)
c.10244A>T (p.Glu3415Val)
c.9944A>T (p.Glu3315Val)
c.7208A>T (p.Glu2403Val)
c.6101A>T (p.Glu2034Val)
c.10127A>T (p.Glu3376Val)
c.5879A>T (p.Glu1960Val)
c.9107A>T (p.Glu3036Val)
8g.99853637A>CCA371781155VPS13Bc.10323A>C (p.Glu3441Asp)
n.10393A>C
c.*6005A>C (n.*6005A>C)
c.10248A>C (p.Glu3416Asp)
c.10320A>C (p.Glu3440Asp)
c.10245A>C (p.Glu3415Asp)
c.9945A>C (p.Glu3315Asp)
c.7209A>C (p.Glu2403Asp)
c.6102A>C (p.Glu2034Asp)
c.10128A>C (p.Glu3376Asp)
c.5880A>C (p.Glu1960Asp)
c.9108A>C (p.Glu3036Asp)
8g.99853637A>GCA462458142VPS13Bc.10323A>G (p.Glu3441=)
n.10393A>G
c.*6005A>G (n.*6005A>G)
c.10248A>G (p.Glu3416=)
c.10320A>G (p.Glu3440=)
c.10245A>G (p.Glu3415=)
c.9945A>G (p.Glu3315=)
c.7209A>G (p.Glu2403=)
c.6102A>G (p.Glu2034=)
c.10128A>G (p.Glu3376=)
c.5880A>G (p.Glu1960=)
c.9108A>G (p.Glu3036=)
8g.99853637A>TCA371781156VPS13Bc.10323A>T (p.Glu3441Asp)
n.10393A>T
c.*6005A>T (n.*6005A>T)
c.10248A>T (p.Glu3416Asp)
c.10320A>T (p.Glu3440Asp)
c.10245A>T (p.Glu3415Asp)
c.9945A>T (p.Glu3315Asp)
c.7209A>T (p.Glu2403Asp)
c.6102A>T (p.Glu2034Asp)
c.10128A>T (p.Glu3376Asp)
c.5880A>T (p.Glu1960Asp)
c.9108A>T (p.Glu3036Asp)
8g.99853638C>ACA371781159VPS13Bc.10324C>A (p.Leu3442Ile)
n.10394C>A
c.*6006C>A (n.*6006C>A)
c.10249C>A (p.Leu3417Ile)
c.10321C>A (p.Leu3441Ile)
c.10246C>A (p.Leu3416Ile)
c.9946C>A (p.Leu3316Ile)
c.7210C>A (p.Leu2404Ile)
c.6103C>A (p.Leu2035Ile)
c.10129C>A (p.Leu3377Ile)
c.5881C>A (p.Leu1961Ile)
c.9109C>A (p.Leu3037Ile)
 gnomAD v4
8g.99853638C>GCA4824920VPS13Bc.10324C>G (p.Leu3442Val)
n.10394C>G
c.*6006C>G (n.*6006C>G)
c.10249C>G (p.Leu3417Val)
c.10321C>G (p.Leu3441Val)
c.10246C>G (p.Leu3416Val)
c.9946C>G (p.Leu3316Val)
c.7210C>G (p.Leu2404Val)
c.6103C>G (p.Leu2035Val)
c.10129C>G (p.Leu3377Val)
c.5881C>G (p.Leu1961Val)
c.9109C>G (p.Leu3037Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853638C>TCA371781161VPS13Bc.10324C>T (p.Leu3442Phe)
n.10394C>T
c.*6006C>T (n.*6006C>T)
c.10249C>T (p.Leu3417Phe)
c.10321C>T (p.Leu3441Phe)
c.10246C>T (p.Leu3416Phe)
c.9946C>T (p.Leu3316Phe)
c.7210C>T (p.Leu2404Phe)
c.6103C>T (p.Leu2035Phe)
c.10129C>T (p.Leu3377Phe)
c.5881C>T (p.Leu1961Phe)
c.9109C>T (p.Leu3037Phe)
 gnomAD v4
8g.99853639T>ACA371781165VPS13Bc.10325T>A (p.Leu3442His)
n.10395T>A
c.*6007T>A (n.*6007T>A)
c.10250T>A (p.Leu3417His)
c.10322T>A (p.Leu3441His)
c.10247T>A (p.Leu3416His)
c.9947T>A (p.Leu3316His)
c.7211T>A (p.Leu2404His)
c.6104T>A (p.Leu2035His)
c.10130T>A (p.Leu3377His)
c.5882T>A (p.Leu1961His)
c.9110T>A (p.Leu3037His)
8g.99853639T>CCA371781168VPS13Bc.10325T>C (p.Leu3442Pro)
n.10395T>C
c.*6007T>C (n.*6007T>C)
c.10250T>C (p.Leu3417Pro)
c.10322T>C (p.Leu3441Pro)
c.10247T>C (p.Leu3416Pro)
c.9947T>C (p.Leu3316Pro)
c.7211T>C (p.Leu2404Pro)
c.6104T>C (p.Leu2035Pro)
c.10130T>C (p.Leu3377Pro)
c.5882T>C (p.Leu1961Pro)
c.9110T>C (p.Leu3037Pro)
8g.99853639T>GCA371781166VPS13Bc.10325T>G (p.Leu3442Arg)
n.10395T>G
c.*6007T>G (n.*6007T>G)
c.10250T>G (p.Leu3417Arg)
c.10322T>G (p.Leu3441Arg)
c.10247T>G (p.Leu3416Arg)
c.9947T>G (p.Leu3316Arg)
c.7211T>G (p.Leu2404Arg)
c.6104T>G (p.Leu2035Arg)
c.10130T>G (p.Leu3377Arg)
c.5882T>G (p.Leu1961Arg)
c.9110T>G (p.Leu3037Arg)
8g.99853640T>ACA462458143VPS13Bc.10326T>A (p.Leu3442=)
n.10396T>A
c.*6008T>A (n.*6008T>A)
c.10251T>A (p.Leu3417=)
c.10323T>A (p.Leu3441=)
c.10248T>A (p.Leu3416=)
c.9948T>A (p.Leu3316=)
c.7212T>A (p.Leu2404=)
c.6105T>A (p.Leu2035=)
c.10131T>A (p.Leu3377=)
c.5883T>A (p.Leu1961=)
c.9111T>A (p.Leu3037=)
8g.99853640T>CCA462458145VPS13Bc.10326T>C (p.Leu3442=)
n.10396T>C
c.*6008T>C (n.*6008T>C)
c.10251T>C (p.Leu3417=)
c.10323T>C (p.Leu3441=)
c.10248T>C (p.Leu3416=)
c.9948T>C (p.Leu3316=)
c.7212T>C (p.Leu2404=)
c.6105T>C (p.Leu2035=)
c.10131T>C (p.Leu3377=)
c.5883T>C (p.Leu1961=)
c.9111T>C (p.Leu3037=)
8g.99853640T>GCA462458144VPS13Bc.10326T>G (p.Leu3442=)
n.10396T>G
c.*6008T>G (n.*6008T>G)
c.10251T>G (p.Leu3417=)
c.10323T>G (p.Leu3441=)
c.10248T>G (p.Leu3416=)
c.9948T>G (p.Leu3316=)
c.7212T>G (p.Leu2404=)
c.6105T>G (p.Leu2035=)
c.10131T>G (p.Leu3377=)
c.5883T>G (p.Leu1961=)
c.9111T>G (p.Leu3037=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99853641T>ACA371781170VPS13Bc.10327T>A (p.Tyr3443Asn)
n.10397T>A
c.*6009T>A (n.*6009T>A)
c.10252T>A (p.Tyr3418Asn)
c.10324T>A (p.Tyr3442Asn)
c.10249T>A (p.Tyr3417Asn)
c.9949T>A (p.Tyr3317Asn)
c.7213T>A (p.Tyr2405Asn)
c.6106T>A (p.Tyr2036Asn)
c.10132T>A (p.Tyr3378Asn)
c.5884T>A (p.Tyr1962Asn)
c.9112T>A (p.Tyr3038Asn)
8g.99853641T>CCA371781175VPS13Bc.10327T>C (p.Tyr3443His)
n.10397T>C
c.*6009T>C (n.*6009T>C)
c.10252T>C (p.Tyr3418His)
c.10324T>C (p.Tyr3442His)
c.10249T>C (p.Tyr3417His)
c.9949T>C (p.Tyr3317His)
c.7213T>C (p.Tyr2405His)
c.6106T>C (p.Tyr2036His)
c.10132T>C (p.Tyr3378His)
c.5884T>C (p.Tyr1962His)
c.9112T>C (p.Tyr3038His)
 gnomAD v4
8g.99853641T>GCA371781172VPS13Bc.10327T>G (p.Tyr3443Asp)
n.10397T>G
c.*6009T>G (n.*6009T>G)
c.10252T>G (p.Tyr3418Asp)
c.10324T>G (p.Tyr3442Asp)
c.10249T>G (p.Tyr3417Asp)
c.9949T>G (p.Tyr3317Asp)
c.7213T>G (p.Tyr2405Asp)
c.6106T>G (p.Tyr2036Asp)
c.10132T>G (p.Tyr3378Asp)
c.5884T>G (p.Tyr1962Asp)
c.9112T>G (p.Tyr3038Asp)
8g.99853642A>CCA371781177VPS13Bc.10328A>C (p.Tyr3443Ser)
n.10398A>C
c.*6010A>C (n.*6010A>C)
c.10253A>C (p.Tyr3418Ser)
c.10325A>C (p.Tyr3442Ser)
c.10250A>C (p.Tyr3417Ser)
c.9950A>C (p.Tyr3317Ser)
c.7214A>C (p.Tyr2405Ser)
c.6107A>C (p.Tyr2036Ser)
c.10133A>C (p.Tyr3378Ser)
c.5885A>C (p.Tyr1962Ser)
c.9113A>C (p.Tyr3038Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.99853642A>GCA371781181VPS13Bc.10328A>G (p.Tyr3443Cys)
n.10398A>G
c.*6010A>G (n.*6010A>G)
c.10253A>G (p.Tyr3418Cys)
c.10325A>G (p.Tyr3442Cys)
c.10250A>G (p.Tyr3417Cys)
c.9950A>G (p.Tyr3317Cys)
c.7214A>G (p.Tyr2405Cys)
c.6107A>G (p.Tyr2036Cys)
c.10133A>G (p.Tyr3378Cys)
c.5885A>G (p.Tyr1962Cys)
c.9113A>G (p.Tyr3038Cys)
8g.99853642A>TCA371781179VPS13Bc.10328A>T (p.Tyr3443Phe)
n.10398A>T
c.*6010A>T (n.*6010A>T)
c.10253A>T (p.Tyr3418Phe)
c.10325A>T (p.Tyr3442Phe)
c.10250A>T (p.Tyr3417Phe)
c.9950A>T (p.Tyr3317Phe)
c.7214A>T (p.Tyr2405Phe)
c.6107A>T (p.Tyr2036Phe)
c.10133A>T (p.Tyr3378Phe)
c.5885A>T (p.Tyr1962Phe)
c.9113A>T (p.Tyr3038Phe)
8g.99853643C>ACA371781183VPS13Bc.10329C>A (p.Tyr3443Ter)
n.10399C>A
c.*6011C>A (n.*6011C>A)
c.10254C>A (p.Tyr3418Ter)
c.10326C>A (p.Tyr3442Ter)
c.10251C>A (p.Tyr3417Ter)
c.9951C>A (p.Tyr3317Ter)
c.7215C>A (p.Tyr2405Ter)
c.6108C>A (p.Tyr2036Ter)
c.10134C>A (p.Tyr3378Ter)
c.5886C>A (p.Tyr1962Ter)
c.9114C>A (p.Tyr3038Ter)
8g.99853643C>GCA371781185VPS13Bc.10329C>G (p.Tyr3443Ter)
n.10399C>G
c.*6011C>G (n.*6011C>G)
c.10254C>G (p.Tyr3418Ter)
c.10326C>G (p.Tyr3442Ter)
c.10251C>G (p.Tyr3417Ter)
c.9951C>G (p.Tyr3317Ter)
c.7215C>G (p.Tyr2405Ter)
c.6108C>G (p.Tyr2036Ter)
c.10134C>G (p.Tyr3378Ter)
c.5886C>G (p.Tyr1962Ter)
c.9114C>G (p.Tyr3038Ter)
 gnomAD v4
8g.99853643C>TCA462458146VPS13Bc.10329C>T (p.Tyr3443=)
n.10399C>T
c.*6011C>T (n.*6011C>T)
c.10254C>T (p.Tyr3418=)
c.10326C>T (p.Tyr3442=)
c.10251C>T (p.Tyr3417=)
c.9951C>T (p.Tyr3317=)
c.7215C>T (p.Tyr2405=)
c.6108C>T (p.Tyr2036=)
c.10134C>T (p.Tyr3378=)
c.5886C>T (p.Tyr1962=)
c.9114C>T (p.Tyr3038=)
8g.99853644T>ACA371781187VPS13Bc.10330T>A (p.Cys3444Ser)
n.10400T>A
c.*6012T>A (n.*6012T>A)
c.10255T>A (p.Cys3419Ser)
c.10327T>A (p.Cys3443Ser)
c.10252T>A (p.Cys3418Ser)
c.9952T>A (p.Cys3318Ser)
c.7216T>A (p.Cys2406Ser)
c.6109T>A (p.Cys2037Ser)
c.10135T>A (p.Cys3379Ser)
c.5887T>A (p.Cys1963Ser)
c.9115T>A (p.Cys3039Ser)
8g.99853644T>CCA4824921VPS13Bc.10330T>C (p.Cys3444Arg)
n.10400T>C
c.*6012T>C (n.*6012T>C)
c.10255T>C (p.Cys3419Arg)
c.10327T>C (p.Cys3443Arg)
c.10252T>C (p.Cys3418Arg)
c.9952T>C (p.Cys3318Arg)
c.7216T>C (p.Cys2406Arg)
c.6109T>C (p.Cys2037Arg)
c.10135T>C (p.Cys3379Arg)
c.5887T>C (p.Cys1963Arg)
c.9115T>C (p.Cys3039Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853644T>GCA371781189VPS13Bc.10330T>G (p.Cys3444Gly)
n.10400T>G
c.*6012T>G (n.*6012T>G)
c.10255T>G (p.Cys3419Gly)
c.10327T>G (p.Cys3443Gly)
c.10252T>G (p.Cys3418Gly)
c.9952T>G (p.Cys3318Gly)
c.7216T>G (p.Cys2406Gly)
c.6109T>G (p.Cys2037Gly)
c.10135T>G (p.Cys3379Gly)
c.5887T>G (p.Cys1963Gly)
c.9115T>G (p.Cys3039Gly)
8g.99853648_99853649delCA2739290110VPS13Bc.10334_10335del (p.Val3445GlyfsTer15)
n.10404_10405del
c.*6016_*6017del (n.*6016_*6017del)
c.10259_10260del (p.Val3420GlyfsTer15)
c.10331_10332del (p.Val3444GlyfsTer15)
c.10256_10257del (p.Val3419GlyfsTer15)
c.9956_9957del (p.Val3319GlyfsTer15)
c.7220_7221del (p.Val2407GlyfsTer15)
c.6113_6114del (p.Val2038GlyfsTer15)
c.10139_10140del (p.Val3380GlyfsTer15)
c.5891_5892del (p.Val1964GlyfsTer15)
c.9119_9120del (p.Val3040GlyfsTer15)
8g.99853645G>ACA371781191VPS13Bc.10331G>A (p.Cys3444Tyr)
n.10401G>A
c.*6013G>A (n.*6013G>A)
c.10256G>A (p.Cys3419Tyr)
c.10328G>A (p.Cys3443Tyr)
c.10253G>A (p.Cys3418Tyr)
c.9953G>A (p.Cys3318Tyr)
c.7217G>A (p.Cys2406Tyr)
c.6110G>A (p.Cys2037Tyr)
c.10136G>A (p.Cys3379Tyr)
c.5888G>A (p.Cys1963Tyr)
c.9116G>A (p.Cys3039Tyr)
 gnomAD v4 COSMIC COSMIC
8g.99853645G>CCA371781193VPS13Bc.10331G>C (p.Cys3444Ser)
n.10401G>C
c.*6013G>C (n.*6013G>C)
c.10256G>C (p.Cys3419Ser)
c.10328G>C (p.Cys3443Ser)
c.10253G>C (p.Cys3418Ser)
c.9953G>C (p.Cys3318Ser)
c.7217G>C (p.Cys2406Ser)
c.6110G>C (p.Cys2037Ser)
c.10136G>C (p.Cys3379Ser)
c.5888G>C (p.Cys1963Ser)
c.9116G>C (p.Cys3039Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.99853645G>TCA371781194VPS13Bc.10331G>T (p.Cys3444Phe)
n.10401G>T
c.*6013G>T (n.*6013G>T)
c.10256G>T (p.Cys3419Phe)
c.10328G>T (p.Cys3443Phe)
c.10253G>T (p.Cys3418Phe)
c.9953G>T (p.Cys3318Phe)
c.7217G>T (p.Cys2406Phe)
c.6110G>T (p.Cys2037Phe)
c.10136G>T (p.Cys3379Phe)
c.5888G>T (p.Cys1963Phe)
c.9116G>T (p.Cys3039Phe)
 gnomAD v4
8g.99853646T>ACA371781196VPS13Bc.10332T>A (p.Cys3444Ter)
n.10402T>A
c.*6014T>A (n.*6014T>A)
c.10257T>A (p.Cys3419Ter)
c.10329T>A (p.Cys3443Ter)
c.10254T>A (p.Cys3418Ter)
c.9954T>A (p.Cys3318Ter)
c.7218T>A (p.Cys2406Ter)
c.6111T>A (p.Cys2037Ter)
c.10137T>A (p.Cys3379Ter)
c.5889T>A (p.Cys1963Ter)
c.9117T>A (p.Cys3039Ter)
8g.99853646T>CCA4824922VPS13Bc.10332T>C (p.Cys3444=)
n.10402T>C
c.*6014T>C (n.*6014T>C)
c.10257T>C (p.Cys3419=)
c.10329T>C (p.Cys3443=)
c.10254T>C (p.Cys3418=)
c.9954T>C (p.Cys3318=)
c.7218T>C (p.Cys2406=)
c.6111T>C (p.Cys2037=)
c.10137T>C (p.Cys3379=)
c.5889T>C (p.Cys1963=)
c.9117T>C (p.Cys3039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853646T>GCA371781199VPS13Bc.10332T>G (p.Cys3444Trp)
n.10402T>G
c.*6014T>G (n.*6014T>G)
c.10257T>G (p.Cys3419Trp)
c.10329T>G (p.Cys3443Trp)
c.10254T>G (p.Cys3418Trp)
c.9954T>G (p.Cys3318Trp)
c.7218T>G (p.Cys2406Trp)
c.6111T>G (p.Cys2037Trp)
c.10137T>G (p.Cys3379Trp)
c.5889T>G (p.Cys1963Trp)
c.9117T>G (p.Cys3039Trp)
8g.99853647G>ACA4824923VPS13Bc.10333G>A (p.Val3445Met)
n.10403G>A
c.*6015G>A (n.*6015G>A)
c.10258G>A (p.Val3420Met)
c.10330G>A (p.Val3444Met)
c.10255G>A (p.Val3419Met)
c.9955G>A (p.Val3319Met)
c.7219G>A (p.Val2407Met)
c.6112G>A (p.Val2038Met)
c.10138G>A (p.Val3380Met)
c.5890G>A (p.Val1964Met)
c.9118G>A (p.Val3040Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853647G>CCA371781202VPS13Bc.10333G>C (p.Val3445Leu)
n.10403G>C
c.*6015G>C (n.*6015G>C)
c.10258G>C (p.Val3420Leu)
c.10330G>C (p.Val3444Leu)
c.10255G>C (p.Val3419Leu)
c.9955G>C (p.Val3319Leu)
c.7219G>C (p.Val2407Leu)
c.6112G>C (p.Val2038Leu)
c.10138G>C (p.Val3380Leu)
c.5890G>C (p.Val1964Leu)
c.9118G>C (p.Val3040Leu)
8g.99853647G>TCA371781204VPS13Bc.10333G>T (p.Val3445Leu)
n.10403G>T
c.*6015G>T (n.*6015G>T)
c.10258G>T (p.Val3420Leu)
c.10330G>T (p.Val3444Leu)
c.10255G>T (p.Val3419Leu)
c.9955G>T (p.Val3319Leu)
c.7219G>T (p.Val2407Leu)
c.6112G>T (p.Val2038Leu)
c.10138G>T (p.Val3380Leu)
c.5890G>T (p.Val1964Leu)
c.9118G>T (p.Val3040Leu)
8g.99853648T>ACA371781207VPS13Bc.10334T>A (p.Val3445Glu)
n.10404T>A
c.*6016T>A (n.*6016T>A)
c.10259T>A (p.Val3420Glu)
c.10331T>A (p.Val3444Glu)
c.10256T>A (p.Val3419Glu)
c.9956T>A (p.Val3319Glu)
c.7220T>A (p.Val2407Glu)
c.6113T>A (p.Val2038Glu)
c.10139T>A (p.Val3380Glu)
c.5891T>A (p.Val1964Glu)
c.9119T>A (p.Val3040Glu)
8g.99853648T>CCA371781209VPS13Bc.10334T>C (p.Val3445Ala)
n.10404T>C
c.*6016T>C (n.*6016T>C)
c.10259T>C (p.Val3420Ala)
c.10331T>C (p.Val3444Ala)
c.10256T>C (p.Val3419Ala)
c.9956T>C (p.Val3319Ala)
c.7220T>C (p.Val2407Ala)
c.6113T>C (p.Val2038Ala)
c.10139T>C (p.Val3380Ala)
c.5891T>C (p.Val1964Ala)
c.9119T>C (p.Val3040Ala)
8g.99853648T>GCA182314211VPS13Bc.10334T>G (p.Val3445Gly)
n.10404T>G
c.*6016T>G (n.*6016T>G)
c.10259T>G (p.Val3420Gly)
c.10331T>G (p.Val3444Gly)
c.10256T>G (p.Val3419Gly)
c.9956T>G (p.Val3319Gly)
c.7220T>G (p.Val2407Gly)
c.6113T>G (p.Val2038Gly)
c.10139T>G (p.Val3380Gly)
c.5891T>G (p.Val1964Gly)
c.9119T>G (p.Val3040Gly)
 dbSNP
8g.99853649G>ACA4824924VPS13Bc.10335G>A (p.Val3445=)
n.10405G>A
c.*6017G>A (n.*6017G>A)
c.10260G>A (p.Val3420=)
c.10332G>A (p.Val3444=)
c.10257G>A (p.Val3419=)
c.9957G>A (p.Val3319=)
c.7221G>A (p.Val2407=)
c.6114G>A (p.Val2038=)
c.10140G>A (p.Val3380=)
c.5892G>A (p.Val1964=)
c.9120G>A (p.Val3040=)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.99853649G>CCA462458147VPS13Bc.10335G>C (p.Val3445=)
n.10405G>C
c.*6017G>C (n.*6017G>C)
c.10260G>C (p.Val3420=)
c.10332G>C (p.Val3444=)
c.10257G>C (p.Val3419=)
c.9957G>C (p.Val3319=)
c.7221G>C (p.Val2407=)
c.6114G>C (p.Val2038=)
c.10140G>C (p.Val3380=)
c.5892G>C (p.Val1964=)
c.9120G>C (p.Val3040=)
8g.99853649G>TCA462458148VPS13Bc.10335G>T (p.Val3445=)
n.10405G>T
c.*6017G>T (n.*6017G>T)
c.10260G>T (p.Val3420=)
c.10332G>T (p.Val3444=)
c.10257G>T (p.Val3419=)
c.9957G>T (p.Val3319=)
c.7221G>T (p.Val2407=)
c.6114G>T (p.Val2038=)
c.10140G>T (p.Val3380=)
c.5892G>T (p.Val1964=)
c.9120G>T (p.Val3040=)
8g.99853650G>ACA371781213VPS13Bc.10336G>A (p.Glu3446Lys)
n.10406G>A
c.*6018G>A (n.*6018G>A)
c.10261G>A (p.Glu3421Lys)
c.10333G>A (p.Glu3445Lys)
c.10258G>A (p.Glu3420Lys)
c.9958G>A (p.Glu3320Lys)
c.7222G>A (p.Glu2408Lys)
c.6115G>A (p.Glu2039Lys)
c.10141G>A (p.Glu3381Lys)
c.5893G>A (p.Glu1965Lys)
c.9121G>A (p.Glu3041Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.99853650G>CCA371781218VPS13Bc.10336G>C (p.Glu3446Gln)
n.10406G>C
c.*6018G>C (n.*6018G>C)
c.10261G>C (p.Glu3421Gln)
c.10333G>C (p.Glu3445Gln)
c.10258G>C (p.Glu3420Gln)
c.9958G>C (p.Glu3320Gln)
c.7222G>C (p.Glu2408Gln)
c.6115G>C (p.Glu2039Gln)
c.10141G>C (p.Glu3381Gln)
c.5893G>C (p.Glu1965Gln)
c.9121G>C (p.Glu3041Gln)
 COSMIC COSMIC
8g.99853650G>TCA371781220VPS13Bc.10336G>T (p.Glu3446Ter)
n.10406G>T
c.*6018G>T (n.*6018G>T)
c.10261G>T (p.Glu3421Ter)
c.10333G>T (p.Glu3445Ter)
c.10258G>T (p.Glu3420Ter)
c.9958G>T (p.Glu3320Ter)
c.7222G>T (p.Glu2408Ter)
c.6115G>T (p.Glu2039Ter)
c.10141G>T (p.Glu3381Ter)
c.5893G>T (p.Glu1965Ter)
c.9121G>T (p.Glu3041Ter)
8g.99853651A>CCA371781222VPS13Bc.10337A>C (p.Glu3446Ala)
n.10407A>C
c.*6019A>C (n.*6019A>C)
c.10262A>C (p.Glu3421Ala)
c.10334A>C (p.Glu3445Ala)
c.10259A>C (p.Glu3420Ala)
c.9959A>C (p.Glu3320Ala)
c.7223A>C (p.Glu2408Ala)
c.6116A>C (p.Glu2039Ala)
c.10142A>C (p.Glu3381Ala)
c.5894A>C (p.Glu1965Ala)
c.9122A>C (p.Glu3041Ala)
8g.99853651A>GCA371781224VPS13Bc.10337A>G (p.Glu3446Gly)
n.10407A>G
c.*6019A>G (n.*6019A>G)
c.10262A>G (p.Glu3421Gly)
c.10334A>G (p.Glu3445Gly)
c.10259A>G (p.Glu3420Gly)
c.9959A>G (p.Glu3320Gly)
c.7223A>G (p.Glu2408Gly)
c.6116A>G (p.Glu2039Gly)
c.10142A>G (p.Glu3381Gly)
c.5894A>G (p.Glu1965Gly)
c.9122A>G (p.Glu3041Gly)
8g.99853651A>TCA371781225VPS13Bc.10337A>T (p.Glu3446Val)
n.10407A>T
c.*6019A>T (n.*6019A>T)
c.10262A>T (p.Glu3421Val)
c.10334A>T (p.Glu3445Val)
c.10259A>T (p.Glu3420Val)
c.9959A>T (p.Glu3320Val)
c.7223A>T (p.Glu2408Val)
c.6116A>T (p.Glu2039Val)
c.10142A>T (p.Glu3381Val)
c.5894A>T (p.Glu1965Val)
c.9122A>T (p.Glu3041Val)
8g.99853652G>ACA462458149VPS13Bc.10338G>A (p.Glu3446=)
n.10408G>A
c.*6020G>A (n.*6020G>A)
c.10263G>A (p.Glu3421=)
c.10335G>A (p.Glu3445=)
c.10260G>A (p.Glu3420=)
c.9960G>A (p.Glu3320=)
c.7224G>A (p.Glu2408=)
c.6117G>A (p.Glu2039=)
c.10143G>A (p.Glu3381=)
c.5895G>A (p.Glu1965=)
c.9123G>A (p.Glu3041=)
 ClinVar
8g.99853652G>CCA371781229VPS13Bc.10338G>C (p.Glu3446Asp)
n.10408G>C
c.*6020G>C (n.*6020G>C)
c.10263G>C (p.Glu3421Asp)
c.10335G>C (p.Glu3445Asp)
c.10260G>C (p.Glu3420Asp)
c.9960G>C (p.Glu3320Asp)
c.7224G>C (p.Glu2408Asp)
c.6117G>C (p.Glu2039Asp)
c.10143G>C (p.Glu3381Asp)
c.5895G>C (p.Glu1965Asp)
c.9123G>C (p.Glu3041Asp)
8g.99853652G>TCA371781227VPS13Bc.10338G>T (p.Glu3446Asp)
n.10408G>T
c.*6020G>T (n.*6020G>T)
c.10263G>T (p.Glu3421Asp)
c.10335G>T (p.Glu3445Asp)
c.10260G>T (p.Glu3420Asp)
c.9960G>T (p.Glu3320Asp)
c.7224G>T (p.Glu2408Asp)
c.6117G>T (p.Glu2039Asp)
c.10143G>T (p.Glu3381Asp)
c.5895G>T (p.Glu1965Asp)
c.9123G>T (p.Glu3041Asp)
8g.99853653A>CCA371781230VPS13Bc.10339A>C (p.Ile3447Leu)
n.10409A>C
c.*6021A>C (n.*6021A>C)
c.10264A>C (p.Ile3422Leu)
c.10336A>C (p.Ile3446Leu)
c.10261A>C (p.Ile3421Leu)
c.9961A>C (p.Ile3321Leu)
c.7225A>C (p.Ile2409Leu)
c.6118A>C (p.Ile2040Leu)
c.10144A>C (p.Ile3382Leu)
c.5896A>C (p.Ile1966Leu)
c.9124A>C (p.Ile3042Leu)
8g.99853653A>GCA371781231VPS13Bc.10339A>G (p.Ile3447Val)
n.10409A>G
c.*6021A>G (n.*6021A>G)
c.10264A>G (p.Ile3422Val)
c.10336A>G (p.Ile3446Val)
c.10261A>G (p.Ile3421Val)
c.9961A>G (p.Ile3321Val)
c.7225A>G (p.Ile2409Val)
c.6118A>G (p.Ile2040Val)
c.10144A>G (p.Ile3382Val)
c.5896A>G (p.Ile1966Val)
c.9124A>G (p.Ile3042Val)
8g.99853653A>TCA371781233VPS13Bc.10339A>T (p.Ile3447Phe)
n.10409A>T
c.*6021A>T (n.*6021A>T)
c.10264A>T (p.Ile3422Phe)
c.10336A>T (p.Ile3446Phe)
c.10261A>T (p.Ile3421Phe)
c.9961A>T (p.Ile3321Phe)
c.7225A>T (p.Ile2409Phe)
c.6118A>T (p.Ile2040Phe)
c.10144A>T (p.Ile3382Phe)
c.5896A>T (p.Ile1966Phe)
c.9124A>T (p.Ile3042Phe)
8g.99853654T>ACA371781234VPS13Bc.10340T>A (p.Ile3447Asn)
n.10410T>A
c.*6022T>A (n.*6022T>A)
c.10265T>A (p.Ile3422Asn)
c.10337T>A (p.Ile3446Asn)
c.10262T>A (p.Ile3421Asn)
c.9962T>A (p.Ile3321Asn)
c.7226T>A (p.Ile2409Asn)
c.6119T>A (p.Ile2040Asn)
c.10145T>A (p.Ile3382Asn)
c.5897T>A (p.Ile1966Asn)
c.9125T>A (p.Ile3042Asn)
8g.99853654T>CCA371781235VPS13Bc.10340T>C (p.Ile3447Thr)
n.10410T>C
c.*6022T>C (n.*6022T>C)
c.10265T>C (p.Ile3422Thr)
c.10337T>C (p.Ile3446Thr)
c.10262T>C (p.Ile3421Thr)
c.9962T>C (p.Ile3321Thr)
c.7226T>C (p.Ile2409Thr)
c.6119T>C (p.Ile2040Thr)
c.10145T>C (p.Ile3382Thr)
c.5897T>C (p.Ile1966Thr)
c.9125T>C (p.Ile3042Thr)
8g.99853654T>GCA371781236VPS13Bc.10340T>G (p.Ile3447Ser)
n.10410T>G
c.*6022T>G (n.*6022T>G)
c.10265T>G (p.Ile3422Ser)
c.10337T>G (p.Ile3446Ser)
c.10262T>G (p.Ile3421Ser)
c.9962T>G (p.Ile3321Ser)
c.7226T>G (p.Ile2409Ser)
c.6119T>G (p.Ile2040Ser)
c.10145T>G (p.Ile3382Ser)
c.5897T>G (p.Ile1966Ser)
c.9125T>G (p.Ile3042Ser)
8g.99853655C>ACA462458151VPS13Bc.10341C>A (p.Ile3447=)
n.10411C>A
c.*6023C>A (n.*6023C>A)
c.10266C>A (p.Ile3422=)
c.10338C>A (p.Ile3446=)
c.10263C>A (p.Ile3421=)
c.9963C>A (p.Ile3321=)
c.7227C>A (p.Ile2409=)
c.6120C>A (p.Ile2040=)
c.10146C>A (p.Ile3382=)
c.5898C>A (p.Ile1966=)
c.9126C>A (p.Ile3042=)
8g.99853655C>GCA371781237VPS13Bc.10341C>G (p.Ile3447Met)
n.10411C>G
c.*6023C>G (n.*6023C>G)
c.10266C>G (p.Ile3422Met)
c.10338C>G (p.Ile3446Met)
c.10263C>G (p.Ile3421Met)
c.9963C>G (p.Ile3321Met)
c.7227C>G (p.Ile2409Met)
c.6120C>G (p.Ile2040Met)
c.10146C>G (p.Ile3382Met)
c.5898C>G (p.Ile1966Met)
c.9126C>G (p.Ile3042Met)
8g.99853655C>TCA462458150VPS13Bc.10341C>T (p.Ile3447=)
n.10411C>T
c.*6023C>T (n.*6023C>T)
c.10266C>T (p.Ile3422=)
c.10338C>T (p.Ile3446=)
c.10263C>T (p.Ile3421=)
c.9963C>T (p.Ile3321=)
c.7227C>T (p.Ile2409=)
c.6120C>T (p.Ile2040=)
c.10146C>T (p.Ile3382=)
c.5898C>T (p.Ile1966=)
c.9126C>T (p.Ile3042=)
 ClinVar
8g.99853656T>ACA371781238VPS13Bc.10342T>A (p.Cys3448Ser)
n.10412T>A
c.*6024T>A (n.*6024T>A)
c.10267T>A (p.Cys3423Ser)
c.10339T>A (p.Cys3447Ser)
c.10264T>A (p.Cys3422Ser)
c.9964T>A (p.Cys3322Ser)
c.7228T>A (p.Cys2410Ser)
c.6121T>A (p.Cys2041Ser)
c.10147T>A (p.Cys3383Ser)
c.5899T>A (p.Cys1967Ser)
c.9127T>A (p.Cys3043Ser)
8g.99853656T>CCA371781239VPS13Bc.10342T>C (p.Cys3448Arg)
n.10412T>C
c.*6024T>C (n.*6024T>C)
c.10267T>C (p.Cys3423Arg)
c.10339T>C (p.Cys3447Arg)
c.10264T>C (p.Cys3422Arg)
c.9964T>C (p.Cys3322Arg)
c.7228T>C (p.Cys2410Arg)
c.6121T>C (p.Cys2041Arg)
c.10147T>C (p.Cys3383Arg)
c.5899T>C (p.Cys1967Arg)
c.9127T>C (p.Cys3043Arg)
8g.99853656T>GCA371781240VPS13Bc.10342T>G (p.Cys3448Gly)
n.10412T>G
c.*6024T>G (n.*6024T>G)
c.10267T>G (p.Cys3423Gly)
c.10339T>G (p.Cys3447Gly)
c.10264T>G (p.Cys3422Gly)
c.9964T>G (p.Cys3322Gly)
c.7228T>G (p.Cys2410Gly)
c.6121T>G (p.Cys2041Gly)
c.10147T>G (p.Cys3383Gly)
c.5899T>G (p.Cys1967Gly)
c.9127T>G (p.Cys3043Gly)
8g.99853657G>ACA371781244VPS13Bc.10343G>A (p.Cys3448Tyr)
n.10413G>A
c.*6025G>A (n.*6025G>A)
c.10268G>A (p.Cys3423Tyr)
c.10340G>A (p.Cys3447Tyr)
c.10265G>A (p.Cys3422Tyr)
c.9965G>A (p.Cys3322Tyr)
c.7229G>A (p.Cys2410Tyr)
c.6122G>A (p.Cys2041Tyr)
c.10148G>A (p.Cys3383Tyr)
c.5900G>A (p.Cys1967Tyr)
c.9128G>A (p.Cys3043Tyr)
 gnomAD v4
8g.99853657G>CCA371781246VPS13Bc.10343G>C (p.Cys3448Ser)
n.10413G>C
c.*6025G>C (n.*6025G>C)
c.10268G>C (p.Cys3423Ser)
c.10340G>C (p.Cys3447Ser)
c.10265G>C (p.Cys3422Ser)
c.9965G>C (p.Cys3322Ser)
c.7229G>C (p.Cys2410Ser)
c.6122G>C (p.Cys2041Ser)
c.10148G>C (p.Cys3383Ser)
c.5900G>C (p.Cys1967Ser)
c.9128G>C (p.Cys3043Ser)
 gnomAD v4
8g.99853657G>TCA371781248VPS13Bc.10343G>T (p.Cys3448Phe)
n.10413G>T
c.*6025G>T (n.*6025G>T)
c.10268G>T (p.Cys3423Phe)
c.10340G>T (p.Cys3447Phe)
c.10265G>T (p.Cys3422Phe)
c.9965G>T (p.Cys3322Phe)
c.7229G>T (p.Cys2410Phe)
c.6122G>T (p.Cys2041Phe)
c.10148G>T (p.Cys3383Phe)
c.5900G>T (p.Cys1967Phe)
c.9128G>T (p.Cys3043Phe)
 gnomAD v4
8g.99853658C>ACA371781250VPS13Bc.10344C>A (p.Cys3448Ter)
n.10414C>A
c.*6026C>A (n.*6026C>A)
c.10269C>A (p.Cys3423Ter)
c.10341C>A (p.Cys3447Ter)
c.10266C>A (p.Cys3422Ter)
c.9966C>A (p.Cys3322Ter)
c.7230C>A (p.Cys2410Ter)
c.6123C>A (p.Cys2041Ter)
c.10149C>A (p.Cys3383Ter)
c.5901C>A (p.Cys1967Ter)
c.9129C>A (p.Cys3043Ter)
8g.99853658C>GCA371781252VPS13Bc.10344C>G (p.Cys3448Trp)
n.10414C>G
c.*6026C>G (n.*6026C>G)
c.10269C>G (p.Cys3423Trp)
c.10341C>G (p.Cys3447Trp)
c.10266C>G (p.Cys3422Trp)
c.9966C>G (p.Cys3322Trp)
c.7230C>G (p.Cys2410Trp)
c.6123C>G (p.Cys2041Trp)
c.10149C>G (p.Cys3383Trp)
c.5901C>G (p.Cys1967Trp)
c.9129C>G (p.Cys3043Trp)
8g.99853658C>TCA462458152VPS13Bc.10344C>T (p.Cys3448=)
n.10414C>T
c.*6026C>T (n.*6026C>T)
c.10269C>T (p.Cys3423=)
c.10341C>T (p.Cys3447=)
c.10266C>T (p.Cys3422=)
c.9966C>T (p.Cys3322=)
c.7230C>T (p.Cys2410=)
c.6123C>T (p.Cys2041=)
c.10149C>T (p.Cys3383=)
c.5901C>T (p.Cys1967=)
c.9129C>T (p.Cys3043=)
8g.99853659T>ACA371781253VPS13Bc.10345T>A (p.Cys3449Ser)
n.10415T>A
c.*6027T>A (n.*6027T>A)
c.10270T>A (p.Cys3424Ser)
c.10342T>A (p.Cys3448Ser)
c.10267T>A (p.Cys3423Ser)
c.9967T>A (p.Cys3323Ser)
c.7231T>A (p.Cys2411Ser)
c.6124T>A (p.Cys2042Ser)
c.10150T>A (p.Cys3384Ser)
c.5902T>A (p.Cys1968Ser)
c.9130T>A (p.Cys3044Ser)
8g.99853659T>CCA371781256VPS13Bc.10345T>C (p.Cys3449Arg)
n.10415T>C
c.*6027T>C (n.*6027T>C)
c.10270T>C (p.Cys3424Arg)
c.10342T>C (p.Cys3448Arg)
c.10267T>C (p.Cys3423Arg)
c.9967T>C (p.Cys3323Arg)
c.7231T>C (p.Cys2411Arg)
c.6124T>C (p.Cys2042Arg)
c.10150T>C (p.Cys3384Arg)
c.5902T>C (p.Cys1968Arg)
c.9130T>C (p.Cys3044Arg)
 gnomAD v4
8g.99853659T>GCA371781258VPS13Bc.10345T>G (p.Cys3449Gly)
n.10415T>G
c.*6027T>G (n.*6027T>G)
c.10270T>G (p.Cys3424Gly)
c.10342T>G (p.Cys3448Gly)
c.10267T>G (p.Cys3423Gly)
c.9967T>G (p.Cys3323Gly)
c.7231T>G (p.Cys2411Gly)
c.6124T>G (p.Cys2042Gly)
c.10150T>G (p.Cys3384Gly)
c.5902T>G (p.Cys1968Gly)
c.9130T>G (p.Cys3044Gly)
 ClinVar dbSNP
8g.99853660G>ACA371781259VPS13Bc.10346G>A (p.Cys3449Tyr)
n.10416G>A
c.*6028G>A (n.*6028G>A)
c.10271G>A (p.Cys3424Tyr)
c.10343G>A (p.Cys3448Tyr)
c.10268G>A (p.Cys3423Tyr)
c.9968G>A (p.Cys3323Tyr)
c.7232G>A (p.Cys2411Tyr)
c.6125G>A (p.Cys2042Tyr)
c.10151G>A (p.Cys3384Tyr)
c.5903G>A (p.Cys1968Tyr)
c.9131G>A (p.Cys3044Tyr)
8g.99853660G>CCA371781261VPS13Bc.10346G>C (p.Cys3449Ser)
n.10416G>C
c.*6028G>C (n.*6028G>C)
c.10271G>C (p.Cys3424Ser)
c.10343G>C (p.Cys3448Ser)
c.10268G>C (p.Cys3423Ser)
c.9968G>C (p.Cys3323Ser)
c.7232G>C (p.Cys2411Ser)
c.6125G>C (p.Cys2042Ser)
c.10151G>C (p.Cys3384Ser)
c.5903G>C (p.Cys1968Ser)
c.9131G>C (p.Cys3044Ser)
 gnomAD v4
8g.99853660G>TCA371781263VPS13Bc.10346G>T (p.Cys3449Phe)
n.10416G>T
c.*6028G>T (n.*6028G>T)
c.10271G>T (p.Cys3424Phe)
c.10343G>T (p.Cys3448Phe)
c.10268G>T (p.Cys3423Phe)
c.9968G>T (p.Cys3323Phe)
c.7232G>T (p.Cys2411Phe)
c.6125G>T (p.Cys2042Phe)
c.10151G>T (p.Cys3384Phe)
c.5903G>T (p.Cys1968Phe)
c.9131G>T (p.Cys3044Phe)
 dbSNP
8g.99853661T>ACA371781264VPS13Bc.10347T>A (p.Cys3449Ter)
n.10417T>A
c.*6029T>A (n.*6029T>A)
c.10272T>A (p.Cys3424Ter)
c.10344T>A (p.Cys3448Ter)
c.10269T>A (p.Cys3423Ter)
c.9969T>A (p.Cys3323Ter)
c.7233T>A (p.Cys2411Ter)
c.6126T>A (p.Cys2042Ter)
c.10152T>A (p.Cys3384Ter)
c.5904T>A (p.Cys1968Ter)
c.9132T>A (p.Cys3044Ter)
 ClinVar gnomAD v4
8g.99853661T>CCA462458153VPS13Bc.10347T>C (p.Cys3449=)
n.10417T>C
c.*6029T>C (n.*6029T>C)
c.10272T>C (p.Cys3424=)
c.10344T>C (p.Cys3448=)
c.10269T>C (p.Cys3423=)
c.9969T>C (p.Cys3323=)
c.7233T>C (p.Cys2411=)
c.6126T>C (p.Cys2042=)
c.10152T>C (p.Cys3384=)
c.5904T>C (p.Cys1968=)
c.9132T>C (p.Cys3044=)
 ClinVar
8g.99853661T>GCA371781266VPS13Bc.10347T>G (p.Cys3449Trp)
n.10417T>G
c.*6029T>G (n.*6029T>G)
c.10272T>G (p.Cys3424Trp)
c.10344T>G (p.Cys3448Trp)
c.10269T>G (p.Cys3423Trp)
c.9969T>G (p.Cys3323Trp)
c.7233T>G (p.Cys2411Trp)
c.6126T>G (p.Cys2042Trp)
c.10152T>G (p.Cys3384Trp)
c.5904T>G (p.Cys1968Trp)
c.9132T>G (p.Cys3044Trp)
8g.99853662G>ACA371781269VPS13Bc.10348G>A (p.Gly3450Arg)
n.10418G>A
c.*6030G>A (n.*6030G>A)
c.10273G>A (p.Gly3425Arg)
c.10345G>A (p.Gly3449Arg)
c.10270G>A (p.Gly3424Arg)
c.9970G>A (p.Gly3324Arg)
c.7234G>A (p.Gly2412Arg)
c.6127G>A (p.Gly2043Arg)
c.10153G>A (p.Gly3385Arg)
c.5905G>A (p.Gly1969Arg)
c.9133G>A (p.Gly3045Arg)
8g.99853662G>CCA371781271VPS13Bc.10348G>C (p.Gly3450Arg)
n.10418G>C
c.*6030G>C (n.*6030G>C)
c.10273G>C (p.Gly3425Arg)
c.10345G>C (p.Gly3449Arg)
c.10270G>C (p.Gly3424Arg)
c.9970G>C (p.Gly3324Arg)
c.7234G>C (p.Gly2412Arg)
c.6127G>C (p.Gly2043Arg)
c.10153G>C (p.Gly3385Arg)
c.5905G>C (p.Gly1969Arg)
c.9133G>C (p.Gly3045Arg)
 dbSNP
8g.99853662G>TCA371781273VPS13Bc.10348G>T (p.Gly3450Trp)
n.10418G>T
c.*6030G>T (n.*6030G>T)
c.10273G>T (p.Gly3425Trp)
c.10345G>T (p.Gly3449Trp)
c.10270G>T (p.Gly3424Trp)
c.9970G>T (p.Gly3324Trp)
c.7234G>T (p.Gly2412Trp)
c.6127G>T (p.Gly2043Trp)
c.10153G>T (p.Gly3385Trp)
c.5905G>T (p.Gly1969Trp)
c.9133G>T (p.Gly3045Trp)
8g.99853663G>ACA371781278VPS13Bc.10349G>A (p.Gly3450Glu)
n.10419G>A
c.*6031G>A (n.*6031G>A)
c.10274G>A (p.Gly3425Glu)
c.10346G>A (p.Gly3449Glu)
c.10271G>A (p.Gly3424Glu)
c.9971G>A (p.Gly3324Glu)
c.7235G>A (p.Gly2412Glu)
c.6128G>A (p.Gly2043Glu)
c.10154G>A (p.Gly3385Glu)
c.5906G>A (p.Gly1969Glu)
c.9134G>A (p.Gly3045Glu)
8g.99853663G>CCA371781277VPS13Bc.10349G>C (p.Gly3450Ala)
n.10419G>C
c.*6031G>C (n.*6031G>C)
c.10274G>C (p.Gly3425Ala)
c.10346G>C (p.Gly3449Ala)
c.10271G>C (p.Gly3424Ala)
c.9971G>C (p.Gly3324Ala)
c.7235G>C (p.Gly2412Ala)
c.6128G>C (p.Gly2043Ala)
c.10154G>C (p.Gly3385Ala)
c.5906G>C (p.Gly1969Ala)
c.9134G>C (p.Gly3045Ala)
 ClinVar dbSNP
8g.99853663G>TCA371781276VPS13Bc.10349G>T (p.Gly3450Val)
n.10419G>T
c.*6031G>T (n.*6031G>T)
c.10274G>T (p.Gly3425Val)
c.10346G>T (p.Gly3449Val)
c.10271G>T (p.Gly3424Val)
c.9971G>T (p.Gly3324Val)
c.7235G>T (p.Gly2412Val)
c.6128G>T (p.Gly2043Val)
c.10154G>T (p.Gly3385Val)
c.5906G>T (p.Gly1969Val)
c.9134G>T (p.Gly3045Val)
8g.99853664G>ACA4824925VPS13Bc.10350G>A (p.Gly3450=)
n.10420G>A
c.*6032G>A (n.*6032G>A)
c.10275G>A (p.Gly3425=)
c.10347G>A (p.Gly3449=)
c.10272G>A (p.Gly3424=)
c.9972G>A (p.Gly3324=)
c.7236G>A (p.Gly2412=)
c.6129G>A (p.Gly2043=)
c.10155G>A (p.Gly3385=)
c.5907G>A (p.Gly1969=)
c.9135G>A (p.Gly3045=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99853664G>CCA462458155VPS13Bc.10350G>C (p.Gly3450=)
n.10420G>C
c.*6032G>C (n.*6032G>C)
c.10275G>C (p.Gly3425=)
c.10347G>C (p.Gly3449=)
c.10272G>C (p.Gly3424=)
c.9972G>C (p.Gly3324=)
c.7236G>C (p.Gly2412=)
c.6129G>C (p.Gly2043=)
c.10155G>C (p.Gly3385=)
c.5907G>C (p.Gly1969=)
c.9135G>C (p.Gly3045=)
8g.99853664G>TCA462458156VPS13Bc.10350G>T (p.Gly3450=)
n.10420G>T
c.*6032G>T (n.*6032G>T)
c.10275G>T (p.Gly3425=)
c.10347G>T (p.Gly3449=)
c.10272G>T (p.Gly3424=)
c.9972G>T (p.Gly3324=)
c.7236G>T (p.Gly2412=)
c.6129G>T (p.Gly2043=)
c.10155G>T (p.Gly3385=)
c.5907G>T (p.Gly1969=)
c.9135G>T (p.Gly3045=)
 dbSNP gnomAD v3 gnomAD v4
8g.99853665G>ACA371781285VPS13Bc.10351G>A (p.Asp3451Asn)
n.10421G>A
c.*6033G>A (n.*6033G>A)
c.10276G>A (p.Asp3426Asn)
c.10348G>A (p.Asp3450Asn)
c.10273G>A (p.Asp3425Asn)
c.9973G>A (p.Asp3325Asn)
c.7237G>A (p.Asp2413Asn)
c.6130G>A (p.Asp2044Asn)
c.10156G>A (p.Asp3386Asn)
c.5908G>A (p.Asp1970Asn)
c.9136G>A (p.Asp3046Asn)
 gnomAD v4
8g.99853665G>CCA371781282VPS13Bc.10351G>C (p.Asp3451His)
n.10421G>C
c.*6033G>C (n.*6033G>C)
c.10276G>C (p.Asp3426His)
c.10348G>C (p.Asp3450His)
c.10273G>C (p.Asp3425His)
c.9973G>C (p.Asp3325His)
c.7237G>C (p.Asp2413His)
c.6130G>C (p.Asp2044His)
c.10156G>C (p.Asp3386His)
c.5908G>C (p.Asp1970His)
c.9136G>C (p.Asp3046His)
8g.99853665G>TCA371781283VPS13Bc.10351G>T (p.Asp3451Tyr)
n.10421G>T
c.*6033G>T (n.*6033G>T)
c.10276G>T (p.Asp3426Tyr)
c.10348G>T (p.Asp3450Tyr)
c.10273G>T (p.Asp3425Tyr)
c.9973G>T (p.Asp3325Tyr)
c.7237G>T (p.Asp2413Tyr)
c.6130G>T (p.Asp2044Tyr)
c.10156G>T (p.Asp3386Tyr)
c.5908G>T (p.Asp1970Tyr)
c.9136G>T (p.Asp3046Tyr)
 gnomAD v4
8g.99853666A>CCA371781287VPS13Bc.10352A>C (p.Asp3451Ala)
n.10422A>C
c.*6034A>C (n.*6034A>C)
c.10277A>C (p.Asp3426Ala)
c.10349A>C (p.Asp3450Ala)
c.10274A>C (p.Asp3425Ala)
c.9974A>C (p.Asp3325Ala)
c.7238A>C (p.Asp2413Ala)
c.6131A>C (p.Asp2044Ala)
c.10157A>C (p.Asp3386Ala)
c.5909A>C (p.Asp1970Ala)
c.9137A>C (p.Asp3046Ala)
8g.99853666A>GCA371781288VPS13Bc.10352A>G (p.Asp3451Gly)
n.10422A>G
c.*6034A>G (n.*6034A>G)
c.10277A>G (p.Asp3426Gly)
c.10349A>G (p.Asp3450Gly)
c.10274A>G (p.Asp3425Gly)
c.9974A>G (p.Asp3325Gly)
c.7238A>G (p.Asp2413Gly)
c.6131A>G (p.Asp2044Gly)
c.10157A>G (p.Asp3386Gly)
c.5909A>G (p.Asp1970Gly)
c.9137A>G (p.Asp3046Gly)
8g.99853666A>TCA371781290VPS13Bc.10352A>T (p.Asp3451Val)
n.10422A>T
c.*6034A>T (n.*6034A>T)
c.10277A>T (p.Asp3426Val)
c.10349A>T (p.Asp3450Val)
c.10274A>T (p.Asp3425Val)
c.9974A>T (p.Asp3325Val)
c.7238A>T (p.Asp2413Val)
c.6131A>T (p.Asp2044Val)
c.10157A>T (p.Asp3386Val)
c.5909A>T (p.Asp1970Val)
c.9137A>T (p.Asp3046Val)
8g.99853667C>ACA371781292VPS13Bc.10353C>A (p.Asp3451Glu)
n.10423C>A
c.*6035C>A (n.*6035C>A)
c.10278C>A (p.Asp3426Glu)
c.10350C>A (p.Asp3450Glu)
c.10275C>A (p.Asp3425Glu)
c.9975C>A (p.Asp3325Glu)
c.7239C>A (p.Asp2413Glu)
c.6132C>A (p.Asp2044Glu)
c.10158C>A (p.Asp3386Glu)
c.5910C>A (p.Asp1970Glu)
c.9138C>A (p.Asp3046Glu)
8g.99853667C>GCA371781294VPS13Bc.10353C>G (p.Asp3451Glu)
n.10423C>G
c.*6035C>G (n.*6035C>G)
c.10278C>G (p.Asp3426Glu)
c.10350C>G (p.Asp3450Glu)
c.10275C>G (p.Asp3425Glu)
c.9975C>G (p.Asp3325Glu)
c.7239C>G (p.Asp2413Glu)
c.6132C>G (p.Asp2044Glu)
c.10158C>G (p.Asp3386Glu)
c.5910C>G (p.Asp1970Glu)
c.9138C>G (p.Asp3046Glu)
 gnomAD v4
8g.99853667C>TCA462458160VPS13Bc.10353C>T (p.Asp3451=)
n.10423C>T
c.*6035C>T (n.*6035C>T)
c.10278C>T (p.Asp3426=)
c.10350C>T (p.Asp3450=)
c.10275C>T (p.Asp3425=)
c.9975C>T (p.Asp3325=)
c.7239C>T (p.Asp2413=)
c.6132C>T (p.Asp2044=)
c.10158C>T (p.Asp3386=)
c.5910C>T (p.Asp1970=)
c.9138C>T (p.Asp3046=)
8g.99853668C>ACA371781296VPS13Bc.10354C>A (p.Leu3452Met)
n.10424C>A
c.*6036C>A (n.*6036C>A)
c.10279C>A (p.Leu3427Met)
c.10351C>A (p.Leu3451Met)
c.10276C>A (p.Leu3426Met)
c.9976C>A (p.Leu3326Met)
c.7240C>A (p.Leu2414Met)
c.6133C>A (p.Leu2045Met)
c.10159C>A (p.Leu3387Met)
c.5911C>A (p.Leu1971Met)
c.9139C>A (p.Leu3047Met)
8g.99853668C>GCA4824926VPS13Bc.10354C>G (p.Leu3452Val)
n.10424C>G
c.*6036C>G (n.*6036C>G)
c.10279C>G (p.Leu3427Val)
c.10351C>G (p.Leu3451Val)
c.10276C>G (p.Leu3426Val)
c.9976C>G (p.Leu3326Val)
c.7240C>G (p.Leu2414Val)
c.6133C>G (p.Leu2045Val)
c.10159C>G (p.Leu3387Val)
c.5911C>G (p.Leu1971Val)
c.9139C>G (p.Leu3047Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853668C>TCA462458161VPS13Bc.10354C>T (p.Leu3452=)
n.10424C>T
c.*6036C>T (n.*6036C>T)
c.10279C>T (p.Leu3427=)
c.10351C>T (p.Leu3451=)
c.10276C>T (p.Leu3426=)
c.9976C>T (p.Leu3326=)
c.7240C>T (p.Leu2414=)
c.6133C>T (p.Leu2045=)
c.10159C>T (p.Leu3387=)
c.5911C>T (p.Leu1971=)
c.9139C>T (p.Leu3047=)
8g.99853669T>ACA371781299VPS13Bc.10355T>A (p.Leu3452Gln)
n.10425T>A
c.*6037T>A (n.*6037T>A)
c.10280T>A (p.Leu3427Gln)
c.10352T>A (p.Leu3451Gln)
c.10277T>A (p.Leu3426Gln)
c.9977T>A (p.Leu3326Gln)
c.7241T>A (p.Leu2414Gln)
c.6134T>A (p.Leu2045Gln)
c.10160T>A (p.Leu3387Gln)
c.5912T>A (p.Leu1971Gln)
c.9140T>A (p.Leu3047Gln)
8g.99853669T>CCA371781301VPS13Bc.10355T>C (p.Leu3452Pro)
n.10425T>C
c.*6037T>C (n.*6037T>C)
c.10280T>C (p.Leu3427Pro)
c.10352T>C (p.Leu3451Pro)
c.10277T>C (p.Leu3426Pro)
c.9977T>C (p.Leu3326Pro)
c.7241T>C (p.Leu2414Pro)
c.6134T>C (p.Leu2045Pro)
c.10160T>C (p.Leu3387Pro)
c.5912T>C (p.Leu1971Pro)
c.9140T>C (p.Leu3047Pro)
8g.99853669T>GCA371781303VPS13Bc.10355T>G (p.Leu3452Arg)
n.10425T>G
c.*6037T>G (n.*6037T>G)
c.10280T>G (p.Leu3427Arg)
c.10352T>G (p.Leu3451Arg)
c.10277T>G (p.Leu3426Arg)
c.9977T>G (p.Leu3326Arg)
c.7241T>G (p.Leu2414Arg)
c.6134T>G (p.Leu2045Arg)
c.10160T>G (p.Leu3387Arg)
c.5912T>G (p.Leu1971Arg)
c.9140T>G (p.Leu3047Arg)
8g.99853670G>ACA462458163VPS13Bc.10356G>A (p.Leu3452=)
n.10426G>A
c.*6038G>A (n.*6038G>A)
c.10281G>A (p.Leu3427=)
c.10353G>A (p.Leu3451=)
c.10278G>A (p.Leu3426=)
c.9978G>A (p.Leu3326=)
c.7242G>A (p.Leu2414=)
c.6135G>A (p.Leu2045=)
c.10161G>A (p.Leu3387=)
c.5913G>A (p.Leu1971=)
c.9141G>A (p.Leu3047=)
8g.99853670G>CCA462458164VPS13Bc.10356G>C (p.Leu3452=)
n.10426G>C
c.*6038G>C (n.*6038G>C)
c.10281G>C (p.Leu3427=)
c.10353G>C (p.Leu3451=)
c.10278G>C (p.Leu3426=)
c.9978G>C (p.Leu3326=)
c.7242G>C (p.Leu2414=)
c.6135G>C (p.Leu2045=)
c.10161G>C (p.Leu3387=)
c.5913G>C (p.Leu1971=)
c.9141G>C (p.Leu3047=)
8g.99853670G>TCA462458165VPS13Bc.10356G>T (p.Leu3452=)
n.10426G>T
c.*6038G>T (n.*6038G>T)
c.10281G>T (p.Leu3427=)
c.10353G>T (p.Leu3451=)
c.10278G>T (p.Leu3426=)
c.9978G>T (p.Leu3326=)
c.7242G>T (p.Leu2414=)
c.6135G>T (p.Leu2045=)
c.10161G>T (p.Leu3387=)
c.5913G>T (p.Leu1971=)
c.9141G>T (p.Leu3047=)
8g.99853671C>ACA371781305VPS13Bc.10357C>A (p.Gln3453Lys)
n.10427C>A
c.*6039C>A (n.*6039C>A)
c.10282C>A (p.Gln3428Lys)
c.10354C>A (p.Gln3452Lys)
c.10279C>A (p.Gln3427Lys)
c.9979C>A (p.Gln3327Lys)
c.7243C>A (p.Gln2415Lys)
c.6136C>A (p.Gln2046Lys)
c.10162C>A (p.Gln3388Lys)
c.5914C>A (p.Gln1972Lys)
c.9142C>A (p.Gln3048Lys)
8g.99853671C>GCA371781308VPS13Bc.10357C>G (p.Gln3453Glu)
n.10427C>G
c.*6039C>G (n.*6039C>G)
c.10282C>G (p.Gln3428Glu)
c.10354C>G (p.Gln3452Glu)
c.10279C>G (p.Gln3427Glu)
c.9979C>G (p.Gln3327Glu)
c.7243C>G (p.Gln2415Glu)
c.6136C>G (p.Gln2046Glu)
c.10162C>G (p.Gln3388Glu)
c.5914C>G (p.Gln1972Glu)
c.9142C>G (p.Gln3048Glu)
8g.99853671C>TCA371781307VPS13Bc.10357C>T (p.Gln3453Ter)
n.10427C>T
c.*6039C>T (n.*6039C>T)
c.10282C>T (p.Gln3428Ter)
c.10354C>T (p.Gln3452Ter)
c.10279C>T (p.Gln3427Ter)
c.9979C>T (p.Gln3327Ter)
c.7243C>T (p.Gln2415Ter)
c.6136C>T (p.Gln2046Ter)
c.10162C>T (p.Gln3388Ter)
c.5914C>T (p.Gln1972Ter)
c.9142C>T (p.Gln3048Ter)
 ClinVar
8g.99853672A>CCA371781311VPS13Bc.10358A>C (p.Gln3453Pro)
n.10428A>C
c.*6040A>C (n.*6040A>C)
c.10283A>C (p.Gln3428Pro)
c.10355A>C (p.Gln3452Pro)
c.10280A>C (p.Gln3427Pro)
c.9980A>C (p.Gln3327Pro)
c.7244A>C (p.Gln2415Pro)
c.6137A>C (p.Gln2046Pro)
c.10163A>C (p.Gln3388Pro)
c.5915A>C (p.Gln1972Pro)
c.9143A>C (p.Gln3048Pro)
8g.99853672A>GCA371781313VPS13Bc.10358A>G (p.Gln3453Arg)
n.10428A>G
c.*6040A>G (n.*6040A>G)
c.10283A>G (p.Gln3428Arg)
c.10355A>G (p.Gln3452Arg)
c.10280A>G (p.Gln3427Arg)
c.9980A>G (p.Gln3327Arg)
c.7244A>G (p.Gln2415Arg)
c.6137A>G (p.Gln2046Arg)
c.10163A>G (p.Gln3388Arg)
c.5915A>G (p.Gln1972Arg)
c.9143A>G (p.Gln3048Arg)
8g.99853672A>TCA371781315VPS13Bc.10358A>T (p.Gln3453Leu)
n.10428A>T
c.*6040A>T (n.*6040A>T)
c.10283A>T (p.Gln3428Leu)
c.10355A>T (p.Gln3452Leu)
c.10280A>T (p.Gln3427Leu)
c.9980A>T (p.Gln3327Leu)
c.7244A>T (p.Gln2415Leu)
c.6137A>T (p.Gln2046Leu)
c.10163A>T (p.Gln3388Leu)
c.5915A>T (p.Gln1972Leu)
c.9143A>T (p.Gln3048Leu)
8g.99853673G>ACA462458166VPS13Bc.10359G>A (p.Gln3453=)
n.10429G>A
c.*6041G>A (n.*6041G>A)
c.10284G>A (p.Gln3428=)
c.10356G>A (p.Gln3452=)
c.10281G>A (p.Gln3427=)
c.9981G>A (p.Gln3327=)
c.7245G>A (p.Gln2415=)
c.6138G>A (p.Gln2046=)
c.10164G>A (p.Gln3388=)
c.5916G>A (p.Gln1972=)
c.9144G>A (p.Gln3048=)
8g.99853673G>CCA371781316VPS13Bc.10359G>C (p.Gln3453His)
n.10429G>C
c.*6041G>C (n.*6041G>C)
c.10284G>C (p.Gln3428His)
c.10356G>C (p.Gln3452His)
c.10281G>C (p.Gln3427His)
c.9981G>C (p.Gln3327His)
c.7245G>C (p.Gln2415His)
c.6138G>C (p.Gln2046His)
c.10164G>C (p.Gln3388His)
c.5916G>C (p.Gln1972His)
c.9144G>C (p.Gln3048His)
8g.99853673G>TCA371781319VPS13Bc.10359G>T (p.Gln3453His)
n.10429G>T
c.*6041G>T (n.*6041G>T)
c.10284G>T (p.Gln3428His)
c.10356G>T (p.Gln3452His)
c.10281G>T (p.Gln3427His)
c.9981G>T (p.Gln3327His)
c.7245G>T (p.Gln2415His)
c.6138G>T (p.Gln2046His)
c.10164G>T (p.Gln3388His)
c.5916G>T (p.Gln1972His)
c.9144G>T (p.Gln3048His)
8g.99853674C>ACA371781321VPS13Bc.10360C>A (p.Leu3454Ile)
n.10430C>A
c.*6042C>A (n.*6042C>A)
c.10285C>A (p.Leu3429Ile)
c.10357C>A (p.Leu3453Ile)
c.10282C>A (p.Leu3428Ile)
c.9982C>A (p.Leu3328Ile)
c.7246C>A (p.Leu2416Ile)
c.6139C>A (p.Leu2047Ile)
c.10165C>A (p.Leu3389Ile)
c.5917C>A (p.Leu1973Ile)
c.9145C>A (p.Leu3049Ile)
8g.99853674C>GCA371781323VPS13Bc.10360C>G (p.Leu3454Val)
n.10430C>G
c.*6042C>G (n.*6042C>G)
c.10285C>G (p.Leu3429Val)
c.10357C>G (p.Leu3453Val)
c.10282C>G (p.Leu3428Val)
c.9982C>G (p.Leu3328Val)
c.7246C>G (p.Leu2416Val)
c.6139C>G (p.Leu2047Val)
c.10165C>G (p.Leu3389Val)
c.5917C>G (p.Leu1973Val)
c.9145C>G (p.Leu3049Val)
8g.99853674C>TCA462458167VPS13Bc.10360C>T (p.Leu3454=)
n.10430C>T
c.*6042C>T (n.*6042C>T)
c.10285C>T (p.Leu3429=)
c.10357C>T (p.Leu3453=)
c.10282C>T (p.Leu3428=)
c.9982C>T (p.Leu3328=)
c.7246C>T (p.Leu2416=)
c.6139C>T (p.Leu2047=)
c.10165C>T (p.Leu3389=)
c.5917C>T (p.Leu1973=)
c.9145C>T (p.Leu3049=)
8g.99853674dupCA891843249VPS13Bc.10360dup (p.Leu3454ProfsTer7)
n.10430dup
c.*6042dup (n.*6042dup)
c.10285dup (p.Leu3429ProfsTer7)
c.10357dup (p.Leu3453ProfsTer7)
c.10282dup (p.Leu3428ProfsTer7)
c.9982dup (p.Leu3328ProfsTer7)
c.7246dup (p.Leu2416ProfsTer7)
c.6139dup (p.Leu2047ProfsTer7)
c.10165dup (p.Leu3389ProfsTer7)
c.5917dup (p.Leu1973ProfsTer7)
c.9145dup (p.Leu3049ProfsTer7)
 ClinVar dbSNP
8g.99853675T>ACA371781324VPS13Bc.10361T>A (p.Leu3454Gln)
n.10431T>A
c.*6043T>A (n.*6043T>A)
c.10286T>A (p.Leu3429Gln)
c.10358T>A (p.Leu3453Gln)
c.10283T>A (p.Leu3428Gln)
c.9983T>A (p.Leu3328Gln)
c.7247T>A (p.Leu2416Gln)
c.6140T>A (p.Leu2047Gln)
c.10166T>A (p.Leu3389Gln)
c.5918T>A (p.Leu1973Gln)
c.9146T>A (p.Leu3049Gln)
8g.99853675T>CCA371781326VPS13Bc.10361T>C (p.Leu3454Pro)
n.10431T>C
c.*6043T>C (n.*6043T>C)
c.10286T>C (p.Leu3429Pro)
c.10358T>C (p.Leu3453Pro)
c.10283T>C (p.Leu3428Pro)
c.9983T>C (p.Leu3328Pro)
c.7247T>C (p.Leu2416Pro)
c.6140T>C (p.Leu2047Pro)
c.10166T>C (p.Leu3389Pro)
c.5918T>C (p.Leu1973Pro)
c.9146T>C (p.Leu3049Pro)
8g.99853675T>GCA371781327VPS13Bc.10361T>G (p.Leu3454Arg)
n.10431T>G
c.*6043T>G (n.*6043T>G)
c.10286T>G (p.Leu3429Arg)
c.10358T>G (p.Leu3453Arg)
c.10283T>G (p.Leu3428Arg)
c.9983T>G (p.Leu3328Arg)
c.7247T>G (p.Leu2416Arg)
c.6140T>G (p.Leu2047Arg)
c.10166T>G (p.Leu3389Arg)
c.5918T>G (p.Leu1973Arg)
c.9146T>G (p.Leu3049Arg)
8g.99853676A>CCA462458168VPS13Bc.10362A>C (p.Leu3454=)
n.10432A>C
c.*6044A>C (n.*6044A>C)
c.10287A>C (p.Leu3429=)
c.10359A>C (p.Leu3453=)
c.10284A>C (p.Leu3428=)
c.9984A>C (p.Leu3328=)
c.7248A>C (p.Leu2416=)
c.6141A>C (p.Leu2047=)
c.10167A>C (p.Leu3389=)
c.5919A>C (p.Leu1973=)
c.9147A>C (p.Leu3049=)
8g.99853676A>GCA462458169VPS13Bc.10362A>G (p.Leu3454=)
n.10432A>G
c.*6044A>G (n.*6044A>G)
c.10287A>G (p.Leu3429=)
c.10359A>G (p.Leu3453=)
c.10284A>G (p.Leu3428=)
c.9984A>G (p.Leu3328=)
c.7248A>G (p.Leu2416=)
c.6141A>G (p.Leu2047=)
c.10167A>G (p.Leu3389=)
c.5919A>G (p.Leu1973=)
c.9147A>G (p.Leu3049=)
 gnomAD v4
8g.99853676A>TCA462458170VPS13Bc.10362A>T (p.Leu3454=)
n.10432A>T
c.*6044A>T (n.*6044A>T)
c.10287A>T (p.Leu3429=)
c.10359A>T (p.Leu3453=)
c.10284A>T (p.Leu3428=)
c.9984A>T (p.Leu3328=)
c.7248A>T (p.Leu2416=)
c.6141A>T (p.Leu2047=)
c.10167A>T (p.Leu3389=)
c.5919A>T (p.Leu1973=)
c.9147A>T (p.Leu3049=)
8g.99853677G>ACA371781331VPS13Bc.10363G>A (p.Asp3455Asn)
n.10433G>A
c.*6045G>A (n.*6045G>A)
c.10288G>A (p.Asp3430Asn)
c.10360G>A (p.Asp3454Asn)
c.10285G>A (p.Asp3429Asn)
c.9985G>A (p.Asp3329Asn)
c.7249G>A (p.Asp2417Asn)
c.6142G>A (p.Asp2048Asn)
c.10168G>A (p.Asp3390Asn)
c.5920G>A (p.Asp1974Asn)
c.9148G>A (p.Asp3050Asn)
 dbSNP
8g.99853677G>CCA371781333VPS13Bc.10363G>C (p.Asp3455His)
n.10433G>C
c.*6045G>C (n.*6045G>C)
c.10288G>C (p.Asp3430His)
c.10360G>C (p.Asp3454His)
c.10285G>C (p.Asp3429His)
c.9985G>C (p.Asp3329His)
c.7249G>C (p.Asp2417His)
c.6142G>C (p.Asp2048His)
c.10168G>C (p.Asp3390His)
c.5920G>C (p.Asp1974His)
c.9148G>C (p.Asp3050His)
8g.99853677G>TCA371781329VPS13Bc.10363G>T (p.Asp3455Tyr)
n.10433G>T
c.*6045G>T (n.*6045G>T)
c.10288G>T (p.Asp3430Tyr)
c.10360G>T (p.Asp3454Tyr)
c.10285G>T (p.Asp3429Tyr)
c.9985G>T (p.Asp3329Tyr)
c.7249G>T (p.Asp2417Tyr)
c.6142G>T (p.Asp2048Tyr)
c.10168G>T (p.Asp3390Tyr)
c.5920G>T (p.Asp1974Tyr)
c.9148G>T (p.Asp3050Tyr)
8g.99853678A>CCA371781336VPS13Bc.10364A>C (p.Asp3455Ala)
n.10434A>C
c.*6046A>C (n.*6046A>C)
c.10289A>C (p.Asp3430Ala)
c.10361A>C (p.Asp3454Ala)
c.10286A>C (p.Asp3429Ala)
c.9986A>C (p.Asp3329Ala)
c.7250A>C (p.Asp2417Ala)
c.6143A>C (p.Asp2048Ala)
c.10169A>C (p.Asp3390Ala)
c.5921A>C (p.Asp1974Ala)
c.9149A>C (p.Asp3050Ala)
8g.99853678A>GCA371781338VPS13Bc.10364A>G (p.Asp3455Gly)
n.10434A>G
c.*6046A>G (n.*6046A>G)
c.10289A>G (p.Asp3430Gly)
c.10361A>G (p.Asp3454Gly)
c.10286A>G (p.Asp3429Gly)
c.9986A>G (p.Asp3329Gly)
c.7250A>G (p.Asp2417Gly)
c.6143A>G (p.Asp2048Gly)
c.10169A>G (p.Asp3390Gly)
c.5921A>G (p.Asp1974Gly)
c.9149A>G (p.Asp3050Gly)
8g.99853678A>TCA371781340VPS13Bc.10364A>T (p.Asp3455Val)
n.10434A>T
c.*6046A>T (n.*6046A>T)
c.10289A>T (p.Asp3430Val)
c.10361A>T (p.Asp3454Val)
c.10286A>T (p.Asp3429Val)
c.9986A>T (p.Asp3329Val)
c.7250A>T (p.Asp2417Val)
c.6143A>T (p.Asp2048Val)
c.10169A>T (p.Asp3390Val)
c.5921A>T (p.Asp1974Val)
c.9149A>T (p.Asp3050Val)

Number of alleles fetched