Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99861812delCA2781481067VPS13Bc.*250del (n.*250del)
n.11226del
c.*6838del (n.*6838del)
c.11081del (p.Leu3694ArgfsTer?)
c.11156del (p.Leu3719ArgfsTer?)
c.11153del (p.Leu3718ArgfsTer?)
c.11078del (p.Leu3693ArgfsTer?)
c.10778del (p.Leu3593ArgfsTer?)
c.8042del (p.Leu2681ArgfsTer?)
c.6935del (p.Leu2312ArgfsTer?)
c.10961del (p.Leu3654ArgfsTer?)
c.6713del (p.Leu2238ArgfsTer?)
c.9941del (p.Leu3314ArgfsTer?)
8g.99861812T>ACA371790328VPS13Bc.*250T>A (n.*250T>A)
n.11226T>A
c.*6838T>A (n.*6838T>A)
c.11081T>A (p.Leu3694Gln)
c.11156T>A (p.Leu3719Gln)
c.11153T>A (p.Leu3718Gln)
c.11078T>A (p.Leu3693Gln)
c.10778T>A (p.Leu3593Gln)
c.8042T>A (p.Leu2681Gln)
c.6935T>A (p.Leu2312Gln)
c.10961T>A (p.Leu3654Gln)
c.6713T>A (p.Leu2238Gln)
c.9941T>A (p.Leu3314Gln)
8g.99861812T>CCA371790330VPS13Bc.*250T>C (n.*250T>C)
n.11226T>C
c.*6838T>C (n.*6838T>C)
c.11081T>C (p.Leu3694Pro)
c.11156T>C (p.Leu3719Pro)
c.11153T>C (p.Leu3718Pro)
c.11078T>C (p.Leu3693Pro)
c.10778T>C (p.Leu3593Pro)
c.8042T>C (p.Leu2681Pro)
c.6935T>C (p.Leu2312Pro)
c.10961T>C (p.Leu3654Pro)
c.6713T>C (p.Leu2238Pro)
c.9941T>C (p.Leu3314Pro)
8g.99861812T>GCA371790332VPS13Bc.*250T>G (n.*250T>G)
n.11226T>G
c.*6838T>G (n.*6838T>G)
c.11081T>G (p.Leu3694Arg)
c.11156T>G (p.Leu3719Arg)
c.11153T>G (p.Leu3718Arg)
c.11078T>G (p.Leu3693Arg)
c.10778T>G (p.Leu3593Arg)
c.8042T>G (p.Leu2681Arg)
c.6935T>G (p.Leu2312Arg)
c.10961T>G (p.Leu3654Arg)
c.6713T>G (p.Leu2238Arg)
c.9941T>G (p.Leu3314Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861813G>ACA462338049VPS13Bc.*251G>A (n.*251G>A)
n.11227G>A
c.*6839G>A (n.*6839G>A)
c.11082G>A (p.Leu3694=)
c.11157G>A (p.Leu3719=)
c.11154G>A (p.Leu3718=)
c.11079G>A (p.Leu3693=)
c.10779G>A (p.Leu3593=)
c.8043G>A (p.Leu2681=)
c.6936G>A (p.Leu2312=)
c.10962G>A (p.Leu3654=)
c.6714G>A (p.Leu2238=)
c.9942G>A (p.Leu3314=)
8g.99861813G>CCA462338050VPS13Bc.*251G>C (n.*251G>C)
n.11227G>C
c.*6839G>C (n.*6839G>C)
c.11082G>C (p.Leu3694=)
c.11157G>C (p.Leu3719=)
c.11154G>C (p.Leu3718=)
c.11079G>C (p.Leu3693=)
c.10779G>C (p.Leu3593=)
c.8043G>C (p.Leu2681=)
c.6936G>C (p.Leu2312=)
c.10962G>C (p.Leu3654=)
c.6714G>C (p.Leu2238=)
c.9942G>C (p.Leu3314=)
 ClinVar
8g.99861813G>TCA462338051VPS13Bc.*251G>T (n.*251G>T)
n.11227G>T
c.*6839G>T (n.*6839G>T)
c.11082G>T (p.Leu3694=)
c.11157G>T (p.Leu3719=)
c.11154G>T (p.Leu3718=)
c.11079G>T (p.Leu3693=)
c.10779G>T (p.Leu3593=)
c.8043G>T (p.Leu2681=)
c.6936G>T (p.Leu2312=)
c.10962G>T (p.Leu3654=)
c.6714G>T (p.Leu2238=)
c.9942G>T (p.Leu3314=)
8g.99861814delCA4825139VPS13Bc.*252del (n.*252del)
n.11228del
c.*6840del (n.*6840del)
c.11083del (p.Ala3695ProfsTer?)
c.11158del (p.Ala3720ProfsTer?)
c.11155del (p.Ala3719ProfsTer?)
c.11080del (p.Ala3694ProfsTer?)
c.10780del (p.Ala3594ProfsTer?)
c.8044del (p.Ala2682ProfsTer?)
c.6937del (p.Ala2313ProfsTer?)
c.10963del (p.Ala3655ProfsTer?)
c.6715del (p.Ala2239ProfsTer?)
c.9943del (p.Ala3315ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861814G>ACA182321372VPS13Bc.*252G>A (n.*252G>A)
n.11228G>A
c.*6840G>A (n.*6840G>A)
c.11083G>A (p.Ala3695Thr)
c.11158G>A (p.Ala3720Thr)
c.11155G>A (p.Ala3719Thr)
c.11080G>A (p.Ala3694Thr)
c.10780G>A (p.Ala3594Thr)
c.8044G>A (p.Ala2682Thr)
c.6937G>A (p.Ala2313Thr)
c.10963G>A (p.Ala3655Thr)
c.6715G>A (p.Ala2239Thr)
c.9943G>A (p.Ala3315Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.99861814G>CCA371790335VPS13Bc.*252G>C (n.*252G>C)
n.11228G>C
c.*6840G>C (n.*6840G>C)
c.11083G>C (p.Ala3695Pro)
c.11158G>C (p.Ala3720Pro)
c.11155G>C (p.Ala3719Pro)
c.11080G>C (p.Ala3694Pro)
c.10780G>C (p.Ala3594Pro)
c.8044G>C (p.Ala2682Pro)
c.6937G>C (p.Ala2313Pro)
c.10963G>C (p.Ala3655Pro)
c.6715G>C (p.Ala2239Pro)
c.9943G>C (p.Ala3315Pro)
8g.99861814G>TCA371790338VPS13Bc.*252G>T (n.*252G>T)
n.11228G>T
c.*6840G>T (n.*6840G>T)
c.11083G>T (p.Ala3695Ser)
c.11158G>T (p.Ala3720Ser)
c.11155G>T (p.Ala3719Ser)
c.11080G>T (p.Ala3694Ser)
c.10780G>T (p.Ala3594Ser)
c.8044G>T (p.Ala2682Ser)
c.6937G>T (p.Ala2313Ser)
c.10963G>T (p.Ala3655Ser)
c.6715G>T (p.Ala2239Ser)
c.9943G>T (p.Ala3315Ser)
 gnomAD v4
8g.99861815C>ACA371790340VPS13Bc.*253C>A (n.*253C>A)
n.11229C>A
c.*6841C>A (n.*6841C>A)
c.11084C>A (p.Ala3695Asp)
c.11159C>A (p.Ala3720Asp)
c.11156C>A (p.Ala3719Asp)
c.11081C>A (p.Ala3694Asp)
c.10781C>A (p.Ala3594Asp)
c.8045C>A (p.Ala2682Asp)
c.6938C>A (p.Ala2313Asp)
c.10964C>A (p.Ala3655Asp)
c.6716C>A (p.Ala2239Asp)
c.9944C>A (p.Ala3315Asp)
 gnomAD v4
8g.99861815C>GCA371790343VPS13Bc.*253C>G (n.*253C>G)
n.11229C>G
c.*6841C>G (n.*6841C>G)
c.11084C>G (p.Ala3695Gly)
c.11159C>G (p.Ala3720Gly)
c.11156C>G (p.Ala3719Gly)
c.11081C>G (p.Ala3694Gly)
c.10781C>G (p.Ala3594Gly)
c.8045C>G (p.Ala2682Gly)
c.6938C>G (p.Ala2313Gly)
c.10964C>G (p.Ala3655Gly)
c.6716C>G (p.Ala2239Gly)
c.9944C>G (p.Ala3315Gly)
 gnomAD v4
8g.99861815C>TCA371790342VPS13Bc.*253C>T (n.*253C>T)
n.11229C>T
c.*6841C>T (n.*6841C>T)
c.11084C>T (p.Ala3695Val)
c.11159C>T (p.Ala3720Val)
c.11156C>T (p.Ala3719Val)
c.11081C>T (p.Ala3694Val)
c.10781C>T (p.Ala3594Val)
c.8045C>T (p.Ala2682Val)
c.6938C>T (p.Ala2313Val)
c.10964C>T (p.Ala3655Val)
c.6716C>T (p.Ala2239Val)
c.9944C>T (p.Ala3315Val)
 gnomAD v4
8g.99861816C>ACA462338052VPS13Bc.*254C>A (n.*254C>A)
n.11230C>A
c.*6842C>A (n.*6842C>A)
c.11085C>A (p.Ala3695=)
c.11160C>A (p.Ala3720=)
c.11157C>A (p.Ala3719=)
c.11082C>A (p.Ala3694=)
c.10782C>A (p.Ala3594=)
c.8046C>A (p.Ala2682=)
c.6939C>A (p.Ala2313=)
c.10965C>A (p.Ala3655=)
c.6717C>A (p.Ala2239=)
c.9945C>A (p.Ala3315=)
 gnomAD v4
8g.99861816C>GCA462338053VPS13Bc.*254C>G (n.*254C>G)
n.11230C>G
c.*6842C>G (n.*6842C>G)
c.11085C>G (p.Ala3695=)
c.11160C>G (p.Ala3720=)
c.11157C>G (p.Ala3719=)
c.11082C>G (p.Ala3694=)
c.10782C>G (p.Ala3594=)
c.8046C>G (p.Ala2682=)
c.6939C>G (p.Ala2313=)
c.10965C>G (p.Ala3655=)
c.6717C>G (p.Ala2239=)
c.9945C>G (p.Ala3315=)
 gnomAD v4
8g.99861816C>TCA462338054VPS13Bc.*254C>T (n.*254C>T)
n.11230C>T
c.*6842C>T (n.*6842C>T)
c.11085C>T (p.Ala3695=)
c.11160C>T (p.Ala3720=)
c.11157C>T (p.Ala3719=)
c.11082C>T (p.Ala3694=)
c.10782C>T (p.Ala3594=)
c.8046C>T (p.Ala2682=)
c.6939C>T (p.Ala2313=)
c.10965C>T (p.Ala3655=)
c.6717C>T (p.Ala2239=)
c.9945C>T (p.Ala3315=)
8g.99861817C>ACA462338055VPS13Bc.*255C>A (n.*255C>A)
n.11231C>A
c.*6843C>A (n.*6843C>A)
c.11086C>A (p.Arg3696=)
c.11161C>A (p.Arg3721=)
c.11158C>A (p.Arg3720=)
c.11083C>A (p.Arg3695=)
c.10783C>A (p.Arg3595=)
c.8047C>A (p.Arg2683=)
c.6940C>A (p.Arg2314=)
c.10966C>A (p.Arg3656=)
c.6718C>A (p.Arg2240=)
c.9946C>A (p.Arg3316=)
 gnomAD v4
8g.99861817C>GCA371790345VPS13Bc.*255C>G (n.*255C>G)
n.11231C>G
c.*6843C>G (n.*6843C>G)
c.11086C>G (p.Arg3696Gly)
c.11161C>G (p.Arg3721Gly)
c.11158C>G (p.Arg3720Gly)
c.11083C>G (p.Arg3695Gly)
c.10783C>G (p.Arg3595Gly)
c.8047C>G (p.Arg2683Gly)
c.6940C>G (p.Arg2314Gly)
c.10966C>G (p.Arg3656Gly)
c.6718C>G (p.Arg2240Gly)
c.9946C>G (p.Arg3316Gly)
8g.99861817C>TCA4825140VPS13Bc.*255C>T (n.*255C>T)
n.11231C>T
c.*6843C>T (n.*6843C>T)
c.11086C>T (p.Arg3696Trp)
c.11161C>T (p.Arg3721Trp)
c.11158C>T (p.Arg3720Trp)
c.11083C>T (p.Arg3695Trp)
c.10783C>T (p.Arg3595Trp)
c.8047C>T (p.Arg2683Trp)
c.6940C>T (p.Arg2314Trp)
c.10966C>T (p.Arg3656Trp)
c.6718C>T (p.Arg2240Trp)
c.9946C>T (p.Arg3316Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861818G>ACA4825141VPS13Bc.*256G>A (n.*256G>A)
n.11232G>A
c.*6844G>A (n.*6844G>A)
c.11087G>A (p.Arg3696Gln)
c.11162G>A (p.Arg3721Gln)
c.11159G>A (p.Arg3720Gln)
c.11084G>A (p.Arg3695Gln)
c.10784G>A (p.Arg3595Gln)
c.8048G>A (p.Arg2683Gln)
c.6941G>A (p.Arg2314Gln)
c.10967G>A (p.Arg3656Gln)
c.6719G>A (p.Arg2240Gln)
c.9947G>A (p.Arg3316Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861818G>CCA371790351VPS13Bc.*256G>C (n.*256G>C)
n.11232G>C
c.*6844G>C (n.*6844G>C)
c.11087G>C (p.Arg3696Pro)
c.11162G>C (p.Arg3721Pro)
c.11159G>C (p.Arg3720Pro)
c.11084G>C (p.Arg3695Pro)
c.10784G>C (p.Arg3595Pro)
c.8048G>C (p.Arg2683Pro)
c.6941G>C (p.Arg2314Pro)
c.10967G>C (p.Arg3656Pro)
c.6719G>C (p.Arg2240Pro)
c.9947G>C (p.Arg3316Pro)
8g.99861818G>TCA371790352VPS13Bc.*256G>T (n.*256G>T)
n.11232G>T
c.*6844G>T (n.*6844G>T)
c.11087G>T (p.Arg3696Leu)
c.11162G>T (p.Arg3721Leu)
c.11159G>T (p.Arg3720Leu)
c.11084G>T (p.Arg3695Leu)
c.10784G>T (p.Arg3595Leu)
c.8048G>T (p.Arg2683Leu)
c.6941G>T (p.Arg2314Leu)
c.10967G>T (p.Arg3656Leu)
c.6719G>T (p.Arg2240Leu)
c.9947G>T (p.Arg3316Leu)
 gnomAD v4
8g.99861819G>ACA462338056VPS13Bc.*257G>A (n.*257G>A)
n.11233G>A
c.*6845G>A (n.*6845G>A)
c.11088G>A (p.Arg3696=)
c.11163G>A (p.Arg3721=)
c.11160G>A (p.Arg3720=)
c.11085G>A (p.Arg3695=)
c.10785G>A (p.Arg3595=)
c.8049G>A (p.Arg2683=)
c.6942G>A (p.Arg2314=)
c.10968G>A (p.Arg3656=)
c.6720G>A (p.Arg2240=)
c.9948G>A (p.Arg3316=)
 gnomAD v4
8g.99861819G>CCA462338057VPS13Bc.*257G>C (n.*257G>C)
n.11233G>C
c.*6845G>C (n.*6845G>C)
c.11088G>C (p.Arg3696=)
c.11163G>C (p.Arg3721=)
c.11160G>C (p.Arg3720=)
c.11085G>C (p.Arg3695=)
c.10785G>C (p.Arg3595=)
c.8049G>C (p.Arg2683=)
c.6942G>C (p.Arg2314=)
c.10968G>C (p.Arg3656=)
c.6720G>C (p.Arg2240=)
c.9948G>C (p.Arg3316=)
8g.99861819G>TCA462338058VPS13Bc.*257G>T (n.*257G>T)
n.11233G>T
c.*6845G>T (n.*6845G>T)
c.11088G>T (p.Arg3696=)
c.11163G>T (p.Arg3721=)
c.11160G>T (p.Arg3720=)
c.11085G>T (p.Arg3695=)
c.10785G>T (p.Arg3595=)
c.8049G>T (p.Arg2683=)
c.6942G>T (p.Arg2314=)
c.10968G>T (p.Arg3656=)
c.6720G>T (p.Arg2240=)
c.9948G>T (p.Arg3316=)
 gnomAD v4 COSMIC COSMIC
8g.99861820A>CCA371790354VPS13Bc.*258A>C (n.*258A>C)
n.11234A>C
c.*6846A>C (n.*6846A>C)
c.11089A>C (p.Asn3697His)
c.11164A>C (p.Asn3722His)
c.11161A>C (p.Asn3721His)
c.11086A>C (p.Asn3696His)
c.10786A>C (p.Asn3596His)
c.8050A>C (p.Asn2684His)
c.6943A>C (p.Asn2315His)
c.10969A>C (p.Asn3657His)
c.6721A>C (p.Asn2241His)
c.9949A>C (p.Asn3317His)
8g.99861820A>GCA371790356VPS13Bc.*258A>G (n.*258A>G)
n.11234A>G
c.*6846A>G (n.*6846A>G)
c.11089A>G (p.Asn3697Asp)
c.11164A>G (p.Asn3722Asp)
c.11161A>G (p.Asn3721Asp)
c.11086A>G (p.Asn3696Asp)
c.10786A>G (p.Asn3596Asp)
c.8050A>G (p.Asn2684Asp)
c.6943A>G (p.Asn2315Asp)
c.10969A>G (p.Asn3657Asp)
c.6721A>G (p.Asn2241Asp)
c.9949A>G (p.Asn3317Asp)
8g.99861820A>TCA371790359VPS13Bc.*258A>T (n.*258A>T)
n.11234A>T
c.*6846A>T (n.*6846A>T)
c.11089A>T (p.Asn3697Tyr)
c.11164A>T (p.Asn3722Tyr)
c.11161A>T (p.Asn3721Tyr)
c.11086A>T (p.Asn3696Tyr)
c.10786A>T (p.Asn3596Tyr)
c.8050A>T (p.Asn2684Tyr)
c.6943A>T (p.Asn2315Tyr)
c.10969A>T (p.Asn3657Tyr)
c.6721A>T (p.Asn2241Tyr)
c.9949A>T (p.Asn3317Tyr)
8g.99861821A>CCA371790360VPS13Bc.*259A>C (n.*259A>C)
n.11235A>C
c.*6847A>C (n.*6847A>C)
c.11090A>C (p.Asn3697Thr)
c.11165A>C (p.Asn3722Thr)
c.11162A>C (p.Asn3721Thr)
c.11087A>C (p.Asn3696Thr)
c.10787A>C (p.Asn3596Thr)
c.8051A>C (p.Asn2684Thr)
c.6944A>C (p.Asn2315Thr)
c.10970A>C (p.Asn3657Thr)
c.6722A>C (p.Asn2241Thr)
c.9950A>C (p.Asn3317Thr)
8g.99861821A>GCA371790362VPS13Bc.*259A>G (n.*259A>G)
n.11235A>G
c.*6847A>G (n.*6847A>G)
c.11090A>G (p.Asn3697Ser)
c.11165A>G (p.Asn3722Ser)
c.11162A>G (p.Asn3721Ser)
c.11087A>G (p.Asn3696Ser)
c.10787A>G (p.Asn3596Ser)
c.8051A>G (p.Asn2684Ser)
c.6944A>G (p.Asn2315Ser)
c.10970A>G (p.Asn3657Ser)
c.6722A>G (p.Asn2241Ser)
c.9950A>G (p.Asn3317Ser)
 gnomAD v4
8g.99861821A>TCA371790364VPS13Bc.*259A>T (n.*259A>T)
n.11235A>T
c.*6847A>T (n.*6847A>T)
c.11090A>T (p.Asn3697Ile)
c.11165A>T (p.Asn3722Ile)
c.11162A>T (p.Asn3721Ile)
c.11087A>T (p.Asn3696Ile)
c.10787A>T (p.Asn3596Ile)
c.8051A>T (p.Asn2684Ile)
c.6944A>T (p.Asn2315Ile)
c.10970A>T (p.Asn3657Ile)
c.6722A>T (p.Asn2241Ile)
c.9950A>T (p.Asn3317Ile)
8g.99861822C>ACA371790367VPS13Bc.*260C>A (n.*260C>A)
n.11236C>A
c.*6848C>A (n.*6848C>A)
c.11091C>A (p.Asn3697Lys)
c.11166C>A (p.Asn3722Lys)
c.11163C>A (p.Asn3721Lys)
c.11088C>A (p.Asn3696Lys)
c.10788C>A (p.Asn3596Lys)
c.8052C>A (p.Asn2684Lys)
c.6945C>A (p.Asn2315Lys)
c.10971C>A (p.Asn3657Lys)
c.6723C>A (p.Asn2241Lys)
c.9951C>A (p.Asn3317Lys)
 gnomAD v4
8g.99861822C>GCA371790368VPS13Bc.*260C>G (n.*260C>G)
n.11236C>G
c.*6848C>G (n.*6848C>G)
c.11091C>G (p.Asn3697Lys)
c.11166C>G (p.Asn3722Lys)
c.11163C>G (p.Asn3721Lys)
c.11088C>G (p.Asn3696Lys)
c.10788C>G (p.Asn3596Lys)
c.8052C>G (p.Asn2684Lys)
c.6945C>G (p.Asn2315Lys)
c.10971C>G (p.Asn3657Lys)
c.6723C>G (p.Asn2241Lys)
c.9951C>G (p.Asn3317Lys)
8g.99861822C>TCA462338059VPS13Bc.*260C>T (n.*260C>T)
n.11236C>T
c.*6848C>T (n.*6848C>T)
c.11091C>T (p.Asn3697=)
c.11166C>T (p.Asn3722=)
c.11163C>T (p.Asn3721=)
c.11088C>T (p.Asn3696=)
c.10788C>T (p.Asn3596=)
c.8052C>T (p.Asn2684=)
c.6945C>T (p.Asn2315=)
c.10971C>T (p.Asn3657=)
c.6723C>T (p.Asn2241=)
c.9951C>T (p.Asn3317=)
8g.99861823A>CCA371790371VPS13Bc.*261A>C (n.*261A>C)
n.11237A>C
c.*6849A>C (n.*6849A>C)
c.11092A>C (p.Met3698Leu)
c.11167A>C (p.Met3723Leu)
c.11164A>C (p.Met3722Leu)
c.11089A>C (p.Met3697Leu)
c.10789A>C (p.Met3597Leu)
c.8053A>C (p.Met2685Leu)
c.6946A>C (p.Met2316Leu)
c.10972A>C (p.Met3658Leu)
c.6724A>C (p.Met2242Leu)
c.9952A>C (p.Met3318Leu)
8g.99861823A>GCA371790375VPS13Bc.*261A>G (n.*261A>G)
n.11237A>G
c.*6849A>G (n.*6849A>G)
c.11092A>G (p.Met3698Val)
c.11167A>G (p.Met3723Val)
c.11164A>G (p.Met3722Val)
c.11089A>G (p.Met3697Val)
c.10789A>G (p.Met3597Val)
c.8053A>G (p.Met2685Val)
c.6946A>G (p.Met2316Val)
c.10972A>G (p.Met3658Val)
c.6724A>G (p.Met2242Val)
c.9952A>G (p.Met3318Val)
 gnomAD v4
8g.99861823A>TCA371790373VPS13Bc.*261A>T (n.*261A>T)
n.11237A>T
c.*6849A>T (n.*6849A>T)
c.11092A>T (p.Met3698Leu)
c.11167A>T (p.Met3723Leu)
c.11164A>T (p.Met3722Leu)
c.11089A>T (p.Met3697Leu)
c.10789A>T (p.Met3597Leu)
c.8053A>T (p.Met2685Leu)
c.6946A>T (p.Met2316Leu)
c.10972A>T (p.Met3658Leu)
c.6724A>T (p.Met2242Leu)
c.9952A>T (p.Met3318Leu)
8g.99861824T>ACA371790377VPS13Bc.*262T>A (n.*262T>A)
n.11238T>A
c.*6850T>A (n.*6850T>A)
c.11093T>A (p.Met3698Lys)
c.11168T>A (p.Met3723Lys)
c.11165T>A (p.Met3722Lys)
c.11090T>A (p.Met3697Lys)
c.10790T>A (p.Met3597Lys)
c.8054T>A (p.Met2685Lys)
c.6947T>A (p.Met2316Lys)
c.10973T>A (p.Met3658Lys)
c.6725T>A (p.Met2242Lys)
c.9953T>A (p.Met3318Lys)
8g.99861824T>CCA371790378VPS13Bc.*262T>C (n.*262T>C)
n.11238T>C
c.*6850T>C (n.*6850T>C)
c.11093T>C (p.Met3698Thr)
c.11168T>C (p.Met3723Thr)
c.11165T>C (p.Met3722Thr)
c.11090T>C (p.Met3697Thr)
c.10790T>C (p.Met3597Thr)
c.8054T>C (p.Met2685Thr)
c.6947T>C (p.Met2316Thr)
c.10973T>C (p.Met3658Thr)
c.6725T>C (p.Met2242Thr)
c.9953T>C (p.Met3318Thr)
 ClinVar dbSNP gnomAD v4
8g.99861824T>GCA371790380VPS13Bc.*262T>G (n.*262T>G)
n.11238T>G
c.*6850T>G (n.*6850T>G)
c.11093T>G (p.Met3698Arg)
c.11168T>G (p.Met3723Arg)
c.11165T>G (p.Met3722Arg)
c.11090T>G (p.Met3697Arg)
c.10790T>G (p.Met3597Arg)
c.8054T>G (p.Met2685Arg)
c.6947T>G (p.Met2316Arg)
c.10973T>G (p.Met3658Arg)
c.6725T>G (p.Met2242Arg)
c.9953T>G (p.Met3318Arg)
8g.99861825G>ACA371790383VPS13Bc.*263G>A (n.*263G>A)
n.11239G>A
c.*6851G>A (n.*6851G>A)
c.11094G>A (p.Met3698Ile)
c.11169G>A (p.Met3723Ile)
c.11166G>A (p.Met3722Ile)
c.11091G>A (p.Met3697Ile)
c.10791G>A (p.Met3597Ile)
c.8055G>A (p.Met2685Ile)
c.6948G>A (p.Met2316Ile)
c.10974G>A (p.Met3658Ile)
c.6726G>A (p.Met2242Ile)
c.9954G>A (p.Met3318Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861825G>CCA371790385VPS13Bc.*263G>C (n.*263G>C)
n.11239G>C
c.*6851G>C (n.*6851G>C)
c.11094G>C (p.Met3698Ile)
c.11169G>C (p.Met3723Ile)
c.11166G>C (p.Met3722Ile)
c.11091G>C (p.Met3697Ile)
c.10791G>C (p.Met3597Ile)
c.8055G>C (p.Met2685Ile)
c.6948G>C (p.Met2316Ile)
c.10974G>C (p.Met3658Ile)
c.6726G>C (p.Met2242Ile)
c.9954G>C (p.Met3318Ile)
8g.99861825G>TCA371790387VPS13Bc.*263G>T (n.*263G>T)
n.11239G>T
c.*6851G>T (n.*6851G>T)
c.11094G>T (p.Met3698Ile)
c.11169G>T (p.Met3723Ile)
c.11166G>T (p.Met3722Ile)
c.11091G>T (p.Met3697Ile)
c.10791G>T (p.Met3597Ile)
c.8055G>T (p.Met2685Ile)
c.6948G>T (p.Met2316Ile)
c.10974G>T (p.Met3658Ile)
c.6726G>T (p.Met2242Ile)
c.9954G>T (p.Met3318Ile)
 gnomAD v4
8g.99861825_99861828dupCA264002VPS13Bc.*263_*266dup (n.*263_*266dup)
n.11239_11242dup
c.*6851_*6854dup (n.*6851_*6854dup)
c.11094_11097dup (p.Arg3700GlyfsTer7)
c.11169_11172dup (p.Arg3725GlyfsTer7)
c.11166_11169dup (p.Arg3724GlyfsTer7)
c.11091_11094dup (p.Arg3699GlyfsTer7)
c.10791_10794dup (p.Arg3599GlyfsTer7)
c.8055_8058dup (p.Arg2687GlyfsTer7)
c.6948_6951dup (p.Arg2318GlyfsTer7)
c.10974_10977dup (p.Arg3660GlyfsTer7)
c.6726_6729dup (p.Arg2244GlyfsTer7)
c.9954_9957dup (p.Arg3320GlyfsTer7)
 ClinVar dbSNP
8g.99861826G>ACA371790390VPS13Bc.*264G>A (n.*264G>A)
n.11240G>A
c.*6852G>A (n.*6852G>A)
c.11095G>A (p.Asp3699Asn)
c.11170G>A (p.Asp3724Asn)
c.11167G>A (p.Asp3723Asn)
c.11092G>A (p.Asp3698Asn)
c.10792G>A (p.Asp3598Asn)
c.8056G>A (p.Asp2686Asn)
c.6949G>A (p.Asp2317Asn)
c.10975G>A (p.Asp3659Asn)
c.6727G>A (p.Asp2243Asn)
c.9955G>A (p.Asp3319Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861826G>CCA371790392VPS13Bc.*264G>C (n.*264G>C)
n.11240G>C
c.*6852G>C (n.*6852G>C)
c.11095G>C (p.Asp3699His)
c.11170G>C (p.Asp3724His)
c.11167G>C (p.Asp3723His)
c.11092G>C (p.Asp3698His)
c.10792G>C (p.Asp3598His)
c.8056G>C (p.Asp2686His)
c.6949G>C (p.Asp2317His)
c.10975G>C (p.Asp3659His)
c.6727G>C (p.Asp2243His)
c.9955G>C (p.Asp3319His)
8g.99861826G>TCA371790394VPS13Bc.*264G>T (n.*264G>T)
n.11240G>T
c.*6852G>T (n.*6852G>T)
c.11095G>T (p.Asp3699Tyr)
c.11170G>T (p.Asp3724Tyr)
c.11167G>T (p.Asp3723Tyr)
c.11092G>T (p.Asp3698Tyr)
c.10792G>T (p.Asp3598Tyr)
c.8056G>T (p.Asp2686Tyr)
c.6949G>T (p.Asp2317Tyr)
c.10975G>T (p.Asp3659Tyr)
c.6727G>T (p.Asp2243Tyr)
c.9955G>T (p.Asp3319Tyr)
 gnomAD v4
8g.99861827A>CCA371790401VPS13Bc.*265A>C (n.*265A>C)
n.11241A>C
c.*6853A>C (n.*6853A>C)
c.11096A>C (p.Asp3699Ala)
c.11171A>C (p.Asp3724Ala)
c.11168A>C (p.Asp3723Ala)
c.11093A>C (p.Asp3698Ala)
c.10793A>C (p.Asp3598Ala)
c.8057A>C (p.Asp2686Ala)
c.6950A>C (p.Asp2317Ala)
c.10976A>C (p.Asp3659Ala)
c.6728A>C (p.Asp2243Ala)
c.9956A>C (p.Asp3319Ala)
8g.99861827A>GCA371790398VPS13Bc.*265A>G (n.*265A>G)
n.11241A>G
c.*6853A>G (n.*6853A>G)
c.11096A>G (p.Asp3699Gly)
c.11171A>G (p.Asp3724Gly)
c.11168A>G (p.Asp3723Gly)
c.11093A>G (p.Asp3698Gly)
c.10793A>G (p.Asp3598Gly)
c.8057A>G (p.Asp2686Gly)
c.6950A>G (p.Asp2317Gly)
c.10976A>G (p.Asp3659Gly)
c.6728A>G (p.Asp2243Gly)
c.9956A>G (p.Asp3319Gly)
8g.99861827A>TCA371790396VPS13Bc.*265A>T (n.*265A>T)
n.11241A>T
c.*6853A>T (n.*6853A>T)
c.11096A>T (p.Asp3699Val)
c.11171A>T (p.Asp3724Val)
c.11168A>T (p.Asp3723Val)
c.11093A>T (p.Asp3698Val)
c.10793A>T (p.Asp3598Val)
c.8057A>T (p.Asp2686Val)
c.6950A>T (p.Asp2317Val)
c.10976A>T (p.Asp3659Val)
c.6728A>T (p.Asp2243Val)
c.9956A>T (p.Asp3319Val)
8g.99861828C>ACA371790403VPS13Bc.*266C>A (n.*266C>A)
n.11242C>A
c.*6854C>A (n.*6854C>A)
c.11097C>A (p.Asp3699Glu)
c.11172C>A (p.Asp3724Glu)
c.11169C>A (p.Asp3723Glu)
c.11094C>A (p.Asp3698Glu)
c.10794C>A (p.Asp3598Glu)
c.8058C>A (p.Asp2686Glu)
c.6951C>A (p.Asp2317Glu)
c.10977C>A (p.Asp3659Glu)
c.6729C>A (p.Asp2243Glu)
c.9957C>A (p.Asp3319Glu)
 gnomAD v4
8g.99861828C>GCA371790405VPS13Bc.*266C>G (n.*266C>G)
n.11242C>G
c.*6854C>G (n.*6854C>G)
c.11097C>G (p.Asp3699Glu)
c.11172C>G (p.Asp3724Glu)
c.11169C>G (p.Asp3723Glu)
c.11094C>G (p.Asp3698Glu)
c.10794C>G (p.Asp3598Glu)
c.8058C>G (p.Asp2686Glu)
c.6951C>G (p.Asp2317Glu)
c.10977C>G (p.Asp3659Glu)
c.6729C>G (p.Asp2243Glu)
c.9957C>G (p.Asp3319Glu)
8g.99861828C>TCA462338060VPS13Bc.*266C>T (n.*266C>T)
n.11242C>T
c.*6854C>T (n.*6854C>T)
c.11097C>T (p.Asp3699=)
c.11172C>T (p.Asp3724=)
c.11169C>T (p.Asp3723=)
c.11094C>T (p.Asp3698=)
c.10794C>T (p.Asp3598=)
c.8058C>T (p.Asp2686=)
c.6951C>T (p.Asp2317=)
c.10977C>T (p.Asp3659=)
c.6729C>T (p.Asp2243=)
c.9957C>T (p.Asp3319=)
 ClinVar
8g.99861829delCA4825142VPS13Bc.*267del (n.*267del)
n.11243del
c.*6855del (n.*6855del)
c.11098del (p.Arg3700GlyfsTer?)
c.11173del (p.Arg3725GlyfsTer?)
c.11170del (p.Arg3724GlyfsTer?)
c.11095del (p.Arg3699GlyfsTer?)
c.10795del (p.Arg3599GlyfsTer?)
c.8059del (p.Arg2687GlyfsTer?)
c.6952del (p.Arg2318GlyfsTer?)
c.10978del (p.Arg3660GlyfsTer?)
c.6730del (p.Arg2244GlyfsTer?)
c.9958del (p.Arg3320GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861829C>ACA462338061VPS13Bc.*267C>A (n.*267C>A)
n.11243C>A
c.*6855C>A (n.*6855C>A)
c.11098C>A (p.Arg3700=)
c.11173C>A (p.Arg3725=)
c.11170C>A (p.Arg3724=)
c.11095C>A (p.Arg3699=)
c.10795C>A (p.Arg3599=)
c.8059C>A (p.Arg2687=)
c.6952C>A (p.Arg2318=)
c.10978C>A (p.Arg3660=)
c.6730C>A (p.Arg2244=)
c.9958C>A (p.Arg3320=)
 gnomAD v4
8g.99861829C>GCA371790409VPS13Bc.*267C>G (n.*267C>G)
n.11243C>G
c.*6855C>G (n.*6855C>G)
c.11098C>G (p.Arg3700Gly)
c.11173C>G (p.Arg3725Gly)
c.11170C>G (p.Arg3724Gly)
c.11095C>G (p.Arg3699Gly)
c.10795C>G (p.Arg3599Gly)
c.8059C>G (p.Arg2687Gly)
c.6952C>G (p.Arg2318Gly)
c.10978C>G (p.Arg3660Gly)
c.6730C>G (p.Arg2244Gly)
c.9958C>G (p.Arg3320Gly)
8g.99861829C>TCA4825143VPS13Bc.*267C>T (n.*267C>T)
n.11243C>T
c.*6855C>T (n.*6855C>T)
c.11098C>T (p.Arg3700Trp)
c.11173C>T (p.Arg3725Trp)
c.11170C>T (p.Arg3724Trp)
c.11095C>T (p.Arg3699Trp)
c.10795C>T (p.Arg3599Trp)
c.8059C>T (p.Arg2687Trp)
c.6952C>T (p.Arg2318Trp)
c.10978C>T (p.Arg3660Trp)
c.6730C>T (p.Arg2244Trp)
c.9958C>T (p.Arg3320Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861830G>ACA4825144VPS13Bc.*268G>A (n.*268G>A)
n.11244G>A
c.*6856G>A (n.*6856G>A)
c.11099G>A (p.Arg3700Gln)
c.11174G>A (p.Arg3725Gln)
c.11171G>A (p.Arg3724Gln)
c.11096G>A (p.Arg3699Gln)
c.10796G>A (p.Arg3599Gln)
c.8060G>A (p.Arg2687Gln)
c.6953G>A (p.Arg2318Gln)
c.10979G>A (p.Arg3660Gln)
c.6731G>A (p.Arg2244Gln)
c.9959G>A (p.Arg3320Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99861830G>CCA371790413VPS13Bc.*268G>C (n.*268G>C)
n.11244G>C
c.*6856G>C (n.*6856G>C)
c.11099G>C (p.Arg3700Pro)
c.11174G>C (p.Arg3725Pro)
c.11171G>C (p.Arg3724Pro)
c.11096G>C (p.Arg3699Pro)
c.10796G>C (p.Arg3599Pro)
c.8060G>C (p.Arg2687Pro)
c.6953G>C (p.Arg2318Pro)
c.10979G>C (p.Arg3660Pro)
c.6731G>C (p.Arg2244Pro)
c.9959G>C (p.Arg3320Pro)
8g.99861830G>TCA371790411VPS13Bc.*268G>T (n.*268G>T)
n.11244G>T
c.*6856G>T (n.*6856G>T)
c.11099G>T (p.Arg3700Leu)
c.11174G>T (p.Arg3725Leu)
c.11171G>T (p.Arg3724Leu)
c.11096G>T (p.Arg3699Leu)
c.10796G>T (p.Arg3599Leu)
c.8060G>T (p.Arg2687Leu)
c.6953G>T (p.Arg2318Leu)
c.10979G>T (p.Arg3660Leu)
c.6731G>T (p.Arg2244Leu)
c.9959G>T (p.Arg3320Leu)
 ClinVar dbSNP gnomAD v4
8g.99861831G>ACA462338062VPS13Bc.*269G>A (n.*269G>A)
n.11245G>A
c.*6857G>A (n.*6857G>A)
c.11100G>A (p.Arg3700=)
c.11175G>A (p.Arg3725=)
c.11172G>A (p.Arg3724=)
c.11097G>A (p.Arg3699=)
c.10797G>A (p.Arg3599=)
c.8061G>A (p.Arg2687=)
c.6954G>A (p.Arg2318=)
c.10980G>A (p.Arg3660=)
c.6732G>A (p.Arg2244=)
c.9960G>A (p.Arg3320=)
 gnomAD v4
8g.99861831G>CCA462338063VPS13Bc.*269G>C (n.*269G>C)
n.11245G>C
c.*6857G>C (n.*6857G>C)
c.11100G>C (p.Arg3700=)
c.11175G>C (p.Arg3725=)
c.11172G>C (p.Arg3724=)
c.11097G>C (p.Arg3699=)
c.10797G>C (p.Arg3599=)
c.8061G>C (p.Arg2687=)
c.6954G>C (p.Arg2318=)
c.10980G>C (p.Arg3660=)
c.6732G>C (p.Arg2244=)
c.9960G>C (p.Arg3320=)
8g.99861831G>TCA462338064VPS13Bc.*269G>T (n.*269G>T)
n.11245G>T
c.*6857G>T (n.*6857G>T)
c.11100G>T (p.Arg3700=)
c.11175G>T (p.Arg3725=)
c.11172G>T (p.Arg3724=)
c.11097G>T (p.Arg3699=)
c.10797G>T (p.Arg3599=)
c.8061G>T (p.Arg2687=)
c.6954G>T (p.Arg2318=)
c.10980G>T (p.Arg3660=)
c.6732G>T (p.Arg2244=)
c.9960G>T (p.Arg3320=)
 gnomAD v4
8g.99861832C>ACA371790415VPS13Bc.*270C>A (n.*270C>A)
n.11246C>A
c.*6858C>A (n.*6858C>A)
c.11101C>A (p.Leu3701Ile)
c.11176C>A (p.Leu3726Ile)
c.11173C>A (p.Leu3725Ile)
c.11098C>A (p.Leu3700Ile)
c.10798C>A (p.Leu3600Ile)
c.8062C>A (p.Leu2688Ile)
c.6955C>A (p.Leu2319Ile)
c.10981C>A (p.Leu3661Ile)
c.6733C>A (p.Leu2245Ile)
c.9961C>A (p.Leu3321Ile)
 gnomAD v4
8g.99861832C>GCA371790417VPS13Bc.*270C>G (n.*270C>G)
n.11246C>G
c.*6858C>G (n.*6858C>G)
c.11101C>G (p.Leu3701Val)
c.11176C>G (p.Leu3726Val)
c.11173C>G (p.Leu3725Val)
c.11098C>G (p.Leu3700Val)
c.10798C>G (p.Leu3600Val)
c.8062C>G (p.Leu2688Val)
c.6955C>G (p.Leu2319Val)
c.10981C>G (p.Leu3661Val)
c.6733C>G (p.Leu2245Val)
c.9961C>G (p.Leu3321Val)
8g.99861832C>TCA371790420VPS13Bc.*270C>T (n.*270C>T)
n.11246C>T
c.*6858C>T (n.*6858C>T)
c.11101C>T (p.Leu3701Phe)
c.11176C>T (p.Leu3726Phe)
c.11173C>T (p.Leu3725Phe)
c.11098C>T (p.Leu3700Phe)
c.10798C>T (p.Leu3600Phe)
c.8062C>T (p.Leu2688Phe)
c.6955C>T (p.Leu2319Phe)
c.10981C>T (p.Leu3661Phe)
c.6733C>T (p.Leu2245Phe)
c.9961C>T (p.Leu3321Phe)
 gnomAD v4
8g.99861833T>ACA371790422VPS13Bc.*271T>A (n.*271T>A)
n.11247T>A
c.*6859T>A (n.*6859T>A)
c.11102T>A (p.Leu3701His)
c.11177T>A (p.Leu3726His)
c.11174T>A (p.Leu3725His)
c.11099T>A (p.Leu3700His)
c.10799T>A (p.Leu3600His)
c.8063T>A (p.Leu2688His)
c.6956T>A (p.Leu2319His)
c.10982T>A (p.Leu3661His)
c.6734T>A (p.Leu2245His)
c.9962T>A (p.Leu3321His)
8g.99861833T>CCA371790424VPS13Bc.*271T>C (n.*271T>C)
n.11247T>C
c.*6859T>C (n.*6859T>C)
c.11102T>C (p.Leu3701Pro)
c.11177T>C (p.Leu3726Pro)
c.11174T>C (p.Leu3725Pro)
c.11099T>C (p.Leu3700Pro)
c.10799T>C (p.Leu3600Pro)
c.8063T>C (p.Leu2688Pro)
c.6956T>C (p.Leu2319Pro)
c.10982T>C (p.Leu3661Pro)
c.6734T>C (p.Leu2245Pro)
c.9962T>C (p.Leu3321Pro)
8g.99861833T>GCA371790426VPS13Bc.*271T>G (n.*271T>G)
n.11247T>G
c.*6859T>G (n.*6859T>G)
c.11102T>G (p.Leu3701Arg)
c.11177T>G (p.Leu3726Arg)
c.11174T>G (p.Leu3725Arg)
c.11099T>G (p.Leu3700Arg)
c.10799T>G (p.Leu3600Arg)
c.8063T>G (p.Leu2688Arg)
c.6956T>G (p.Leu2319Arg)
c.10982T>G (p.Leu3661Arg)
c.6734T>G (p.Leu2245Arg)
c.9962T>G (p.Leu3321Arg)
8g.99861834C>ACA462338065VPS13Bc.*272C>A (n.*272C>A)
n.11248C>A
c.*6860C>A (n.*6860C>A)
c.11103C>A (p.Leu3701=)
c.11178C>A (p.Leu3726=)
c.11175C>A (p.Leu3725=)
c.11100C>A (p.Leu3700=)
c.10800C>A (p.Leu3600=)
c.8064C>A (p.Leu2688=)
c.6957C>A (p.Leu2319=)
c.10983C>A (p.Leu3661=)
c.6735C>A (p.Leu2245=)
c.9963C>A (p.Leu3321=)
 ClinVar gnomAD v4
8g.99861834C>GCA462338066VPS13Bc.*272C>G (n.*272C>G)
n.11248C>G
c.*6860C>G (n.*6860C>G)
c.11103C>G (p.Leu3701=)
c.11178C>G (p.Leu3726=)
c.11175C>G (p.Leu3725=)
c.11100C>G (p.Leu3700=)
c.10800C>G (p.Leu3600=)
c.8064C>G (p.Leu2688=)
c.6957C>G (p.Leu2319=)
c.10983C>G (p.Leu3661=)
c.6735C>G (p.Leu2245=)
c.9963C>G (p.Leu3321=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861834C>TCA462338067VPS13Bc.*272C>T (n.*272C>T)
n.11248C>T
c.*6860C>T (n.*6860C>T)
c.11103C>T (p.Leu3701=)
c.11178C>T (p.Leu3726=)
c.11175C>T (p.Leu3725=)
c.11100C>T (p.Leu3700=)
c.10800C>T (p.Leu3600=)
c.8064C>T (p.Leu2688=)
c.6957C>T (p.Leu2319=)
c.10983C>T (p.Leu3661=)
c.6735C>T (p.Leu2245=)
c.9963C>T (p.Leu3321=)
8g.99861835T>ACA371790428VPS13Bc.*273T>A (n.*273T>A)
n.11249T>A
c.*6861T>A (n.*6861T>A)
c.11104T>A (p.Ser3702Thr)
c.11179T>A (p.Ser3727Thr)
c.11176T>A (p.Ser3726Thr)
c.11101T>A (p.Ser3701Thr)
c.10801T>A (p.Ser3601Thr)
c.8065T>A (p.Ser2689Thr)
c.6958T>A (p.Ser2320Thr)
c.10984T>A (p.Ser3662Thr)
c.6736T>A (p.Ser2246Thr)
c.9964T>A (p.Ser3322Thr)
8g.99861835T>CCA371790432VPS13Bc.*273T>C (n.*273T>C)
n.11249T>C
c.*6861T>C (n.*6861T>C)
c.11104T>C (p.Ser3702Pro)
c.11179T>C (p.Ser3727Pro)
c.11176T>C (p.Ser3726Pro)
c.11101T>C (p.Ser3701Pro)
c.10801T>C (p.Ser3601Pro)
c.8065T>C (p.Ser2689Pro)
c.6958T>C (p.Ser2320Pro)
c.10984T>C (p.Ser3662Pro)
c.6736T>C (p.Ser2246Pro)
c.9964T>C (p.Ser3322Pro)
8g.99861835T>GCA371790430VPS13Bc.*273T>G (n.*273T>G)
n.11249T>G
c.*6861T>G (n.*6861T>G)
c.11104T>G (p.Ser3702Ala)
c.11179T>G (p.Ser3727Ala)
c.11176T>G (p.Ser3726Ala)
c.11101T>G (p.Ser3701Ala)
c.10801T>G (p.Ser3601Ala)
c.8065T>G (p.Ser2689Ala)
c.6958T>G (p.Ser2320Ala)
c.10984T>G (p.Ser3662Ala)
c.6736T>G (p.Ser2246Ala)
c.9964T>G (p.Ser3322Ala)
8g.99861836C>ACA371790435VPS13Bc.*274C>A (n.*274C>A)
n.11250C>A
c.*6862C>A (n.*6862C>A)
c.11105C>A (p.Ser3702Ter)
c.11180C>A (p.Ser3727Ter)
c.11177C>A (p.Ser3726Ter)
c.11102C>A (p.Ser3701Ter)
c.10802C>A (p.Ser3601Ter)
c.8066C>A (p.Ser2689Ter)
c.6959C>A (p.Ser2320Ter)
c.10985C>A (p.Ser3662Ter)
c.6737C>A (p.Ser2246Ter)
c.9965C>A (p.Ser3322Ter)
8g.99861836C>GCA371790438VPS13Bc.*274C>G (n.*274C>G)
n.11250C>G
c.*6862C>G (n.*6862C>G)
c.11105C>G (p.Ser3702Ter)
c.11180C>G (p.Ser3727Ter)
c.11177C>G (p.Ser3726Ter)
c.11102C>G (p.Ser3701Ter)
c.10802C>G (p.Ser3601Ter)
c.8066C>G (p.Ser2689Ter)
c.6959C>G (p.Ser2320Ter)
c.10985C>G (p.Ser3662Ter)
c.6737C>G (p.Ser2246Ter)
c.9965C>G (p.Ser3322Ter)
8g.99861836C>TCA371790440VPS13Bc.*274C>T (n.*274C>T)
n.11250C>T
c.*6862C>T (n.*6862C>T)
c.11105C>T (p.Ser3702Leu)
c.11180C>T (p.Ser3727Leu)
c.11177C>T (p.Ser3726Leu)
c.11102C>T (p.Ser3701Leu)
c.10802C>T (p.Ser3601Leu)
c.8066C>T (p.Ser2689Leu)
c.6959C>T (p.Ser2320Leu)
c.10985C>T (p.Ser3662Leu)
c.6737C>T (p.Ser2246Leu)
c.9965C>T (p.Ser3322Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99861836_99861845delCA16041272VPS13Bc.*274_*283del (n.*274_*283del)
n.11250_11259del
c.*6862_*6871del (n.*6862_*6871del)
c.11105_11114del (p.Ser3702TrpfsTer?)
c.11180_11189del (p.Ser3727TrpfsTer?)
c.11177_11186del (p.Ser3726TrpfsTer?)
c.11102_11111del (p.Ser3701TrpfsTer?)
c.10802_10811del (p.Ser3601TrpfsTer?)
c.8066_8075del (p.Ser2689TrpfsTer?)
c.6959_6968del (p.Ser2320TrpfsTer?)
c.10985_10994del (p.Ser3662TrpfsTer?)
c.6737_6746del (p.Ser2246TrpfsTer?)
c.9965_9974del (p.Ser3322TrpfsTer?)
 ClinVar dbSNP
8g.99861837A>CCA462338068VPS13Bc.*275A>C (n.*275A>C)
n.11251A>C
c.*6863A>C (n.*6863A>C)
c.11106A>C (p.Ser3702=)
c.11181A>C (p.Ser3727=)
c.11178A>C (p.Ser3726=)
c.11103A>C (p.Ser3701=)
c.10803A>C (p.Ser3601=)
c.8067A>C (p.Ser2689=)
c.6960A>C (p.Ser2320=)
c.10986A>C (p.Ser3662=)
c.6738A>C (p.Ser2246=)
c.9966A>C (p.Ser3322=)
8g.99861837A>GCA462338069VPS13Bc.*275A>G (n.*275A>G)
n.11251A>G
c.*6863A>G (n.*6863A>G)
c.11106A>G (p.Ser3702=)
c.11181A>G (p.Ser3727=)
c.11178A>G (p.Ser3726=)
c.11103A>G (p.Ser3701=)
c.10803A>G (p.Ser3601=)
c.8067A>G (p.Ser2689=)
c.6960A>G (p.Ser2320=)
c.10986A>G (p.Ser3662=)
c.6738A>G (p.Ser2246=)
c.9966A>G (p.Ser3322=)
 dbSNP gnomAD v4
8g.99861837A>TCA462338070VPS13Bc.*275A>T (n.*275A>T)
n.11251A>T
c.*6863A>T (n.*6863A>T)
c.11106A>T (p.Ser3702=)
c.11181A>T (p.Ser3727=)
c.11178A>T (p.Ser3726=)
c.11103A>T (p.Ser3701=)
c.10803A>T (p.Ser3601=)
c.8067A>T (p.Ser2689=)
c.6960A>T (p.Ser2320=)
c.10986A>T (p.Ser3662=)
c.6738A>T (p.Ser2246=)
c.9966A>T (p.Ser3322=)
8g.99861838C>ACA371790444VPS13Bc.*276C>A (n.*276C>A)
n.11252C>A
c.*6864C>A (n.*6864C>A)
c.11107C>A (p.Leu3703Met)
c.11182C>A (p.Leu3728Met)
c.11179C>A (p.Leu3727Met)
c.11104C>A (p.Leu3702Met)
c.10804C>A (p.Leu3602Met)
c.8068C>A (p.Leu2690Met)
c.6961C>A (p.Leu2321Met)
c.10987C>A (p.Leu3663Met)
c.6739C>A (p.Leu2247Met)
c.9967C>A (p.Leu3323Met)
 gnomAD v4
8g.99861838C>GCA371790446VPS13Bc.*276C>G (n.*276C>G)
n.11252C>G
c.*6864C>G (n.*6864C>G)
c.11107C>G (p.Leu3703Val)
c.11182C>G (p.Leu3728Val)
c.11179C>G (p.Leu3727Val)
c.11104C>G (p.Leu3702Val)
c.10804C>G (p.Leu3602Val)
c.8068C>G (p.Leu2690Val)
c.6961C>G (p.Leu2321Val)
c.10987C>G (p.Leu3663Val)
c.6739C>G (p.Leu2247Val)
c.9967C>G (p.Leu3323Val)
8g.99861838C>TCA462338071VPS13Bc.*276C>T (n.*276C>T)
n.11252C>T
c.*6864C>T (n.*6864C>T)
c.11107C>T (p.Leu3703=)
c.11182C>T (p.Leu3728=)
c.11179C>T (p.Leu3727=)
c.11104C>T (p.Leu3702=)
c.10804C>T (p.Leu3602=)
c.8068C>T (p.Leu2690=)
c.6961C>T (p.Leu2321=)
c.10987C>T (p.Leu3663=)
c.6739C>T (p.Leu2247=)
c.9967C>T (p.Leu3323=)
8g.99861839T>ACA371790448VPS13Bc.*277T>A (n.*277T>A)
n.11253T>A
c.*6865T>A (n.*6865T>A)
c.11108T>A (p.Leu3703Gln)
c.11183T>A (p.Leu3728Gln)
c.11180T>A (p.Leu3727Gln)
c.11105T>A (p.Leu3702Gln)
c.10805T>A (p.Leu3602Gln)
c.8069T>A (p.Leu2690Gln)
c.6962T>A (p.Leu2321Gln)
c.10988T>A (p.Leu3663Gln)
c.6740T>A (p.Leu2247Gln)
c.9968T>A (p.Leu3323Gln)
8g.99861839T>CCA371790450VPS13Bc.*277T>C (n.*277T>C)
n.11253T>C
c.*6865T>C (n.*6865T>C)
c.11108T>C (p.Leu3703Pro)
c.11183T>C (p.Leu3728Pro)
c.11180T>C (p.Leu3727Pro)
c.11105T>C (p.Leu3702Pro)
c.10805T>C (p.Leu3602Pro)
c.8069T>C (p.Leu2690Pro)
c.6962T>C (p.Leu2321Pro)
c.10988T>C (p.Leu3663Pro)
c.6740T>C (p.Leu2247Pro)
c.9968T>C (p.Leu3323Pro)
 gnomAD v4
8g.99861839T>GCA371790451VPS13Bc.*277T>G (n.*277T>G)
n.11253T>G
c.*6865T>G (n.*6865T>G)
c.11108T>G (p.Leu3703Arg)
c.11183T>G (p.Leu3728Arg)
c.11180T>G (p.Leu3727Arg)
c.11105T>G (p.Leu3702Arg)
c.10805T>G (p.Leu3602Arg)
c.8069T>G (p.Leu2690Arg)
c.6962T>G (p.Leu2321Arg)
c.10988T>G (p.Leu3663Arg)
c.6740T>G (p.Leu2247Arg)
c.9968T>G (p.Leu3323Arg)
8g.99861840G>ACA4825145VPS13Bc.*278G>A (n.*278G>A)
n.11254G>A
c.*6866G>A (n.*6866G>A)
c.11109G>A (p.Leu3703=)
c.11184G>A (p.Leu3728=)
c.11181G>A (p.Leu3727=)
c.11106G>A (p.Leu3702=)
c.10806G>A (p.Leu3602=)
c.8070G>A (p.Leu2690=)
c.6963G>A (p.Leu2321=)
c.10989G>A (p.Leu3663=)
c.6741G>A (p.Leu2247=)
c.9969G>A (p.Leu3323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861840G>CCA462338072VPS13Bc.*278G>C (n.*278G>C)
n.11254G>C
c.*6866G>C (n.*6866G>C)
c.11109G>C (p.Leu3703=)
c.11184G>C (p.Leu3728=)
c.11181G>C (p.Leu3727=)
c.11106G>C (p.Leu3702=)
c.10806G>C (p.Leu3602=)
c.8070G>C (p.Leu2690=)
c.6963G>C (p.Leu2321=)
c.10989G>C (p.Leu3663=)
c.6741G>C (p.Leu2247=)
c.9969G>C (p.Leu3323=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861840G>TCA462338073VPS13Bc.*278G>T (n.*278G>T)
n.11254G>T
c.*6866G>T (n.*6866G>T)
c.11109G>T (p.Leu3703=)
c.11184G>T (p.Leu3728=)
c.11181G>T (p.Leu3727=)
c.11106G>T (p.Leu3702=)
c.10806G>T (p.Leu3602=)
c.8070G>T (p.Leu2690=)
c.6963G>T (p.Leu2321=)
c.10989G>T (p.Leu3663=)
c.6741G>T (p.Leu2247=)
c.9969G>T (p.Leu3323=)
 gnomAD v4
8g.99861841G>ACA371790457VPS13Bc.*279G>A (n.*279G>A)
n.11255G>A
c.*6867G>A (n.*6867G>A)
c.11110G>A (p.Asp3704Asn)
c.11185G>A (p.Asp3729Asn)
c.11182G>A (p.Asp3728Asn)
c.11107G>A (p.Asp3703Asn)
c.10807G>A (p.Asp3603Asn)
c.8071G>A (p.Asp2691Asn)
c.6964G>A (p.Asp2322Asn)
c.10990G>A (p.Asp3664Asn)
c.6742G>A (p.Asp2248Asn)
c.9970G>A (p.Asp3324Asn)
 COSMIC COSMIC
8g.99861841G>CCA371790455VPS13Bc.*279G>C (n.*279G>C)
n.11255G>C
c.*6867G>C (n.*6867G>C)
c.11110G>C (p.Asp3704His)
c.11185G>C (p.Asp3729His)
c.11182G>C (p.Asp3728His)
c.11107G>C (p.Asp3703His)
c.10807G>C (p.Asp3603His)
c.8071G>C (p.Asp2691His)
c.6964G>C (p.Asp2322His)
c.10990G>C (p.Asp3664His)
c.6742G>C (p.Asp2248His)
c.9970G>C (p.Asp3324His)
8g.99861841G>TCA371790453VPS13Bc.*279G>T (n.*279G>T)
n.11255G>T
c.*6867G>T (n.*6867G>T)
c.11110G>T (p.Asp3704Tyr)
c.11185G>T (p.Asp3729Tyr)
c.11182G>T (p.Asp3728Tyr)
c.11107G>T (p.Asp3703Tyr)
c.10807G>T (p.Asp3603Tyr)
c.8071G>T (p.Asp2691Tyr)
c.6964G>T (p.Asp2322Tyr)
c.10990G>T (p.Asp3664Tyr)
c.6742G>T (p.Asp2248Tyr)
c.9970G>T (p.Asp3324Tyr)
 gnomAD v4
8g.99861842A>CCA371790460VPS13Bc.*280A>C (n.*280A>C)
n.11256A>C
c.*6868A>C (n.*6868A>C)
c.11111A>C (p.Asp3704Ala)
c.11186A>C (p.Asp3729Ala)
c.11183A>C (p.Asp3728Ala)
c.11108A>C (p.Asp3703Ala)
c.10808A>C (p.Asp3603Ala)
c.8072A>C (p.Asp2691Ala)
c.6965A>C (p.Asp2322Ala)
c.10991A>C (p.Asp3664Ala)
c.6743A>C (p.Asp2248Ala)
c.9971A>C (p.Asp3324Ala)
8g.99861842A>GCA371790461VPS13Bc.*280A>G (n.*280A>G)
n.11256A>G
c.*6868A>G (n.*6868A>G)
c.11111A>G (p.Asp3704Gly)
c.11186A>G (p.Asp3729Gly)
c.11183A>G (p.Asp3728Gly)
c.11108A>G (p.Asp3703Gly)
c.10808A>G (p.Asp3603Gly)
c.8072A>G (p.Asp2691Gly)
c.6965A>G (p.Asp2322Gly)
c.10991A>G (p.Asp3664Gly)
c.6743A>G (p.Asp2248Gly)
c.9971A>G (p.Asp3324Gly)
 gnomAD v4
8g.99861842A>TCA371790462VPS13Bc.*280A>T (n.*280A>T)
n.11256A>T
c.*6868A>T (n.*6868A>T)
c.11111A>T (p.Asp3704Val)
c.11186A>T (p.Asp3729Val)
c.11183A>T (p.Asp3728Val)
c.11108A>T (p.Asp3703Val)
c.10808A>T (p.Asp3603Val)
c.8072A>T (p.Asp2691Val)
c.6965A>T (p.Asp2322Val)
c.10991A>T (p.Asp3664Val)
c.6743A>T (p.Asp2248Val)
c.9971A>T (p.Asp3324Val)
8g.99861843T>ACA371790465VPS13Bc.*281T>A (n.*281T>A)
n.11257T>A
c.*6869T>A (n.*6869T>A)
c.11112T>A (p.Asp3704Glu)
c.11187T>A (p.Asp3729Glu)
c.11184T>A (p.Asp3728Glu)
c.11109T>A (p.Asp3703Glu)
c.10809T>A (p.Asp3603Glu)
c.8073T>A (p.Asp2691Glu)
c.6966T>A (p.Asp2322Glu)
c.10992T>A (p.Asp3664Glu)
c.6744T>A (p.Asp2248Glu)
c.9972T>A (p.Asp3324Glu)
8g.99861843T>CCA462338074VPS13Bc.*281T>C (n.*281T>C)
n.11257T>C
c.*6869T>C (n.*6869T>C)
c.11112T>C (p.Asp3704=)
c.11187T>C (p.Asp3729=)
c.11184T>C (p.Asp3728=)
c.11109T>C (p.Asp3703=)
c.10809T>C (p.Asp3603=)
c.8073T>C (p.Asp2691=)
c.6966T>C (p.Asp2322=)
c.10992T>C (p.Asp3664=)
c.6744T>C (p.Asp2248=)
c.9972T>C (p.Asp3324=)
8g.99861843T>GCA371790467VPS13Bc.*281T>G (n.*281T>G)
n.11257T>G
c.*6869T>G (n.*6869T>G)
c.11112T>G (p.Asp3704Glu)
c.11187T>G (p.Asp3729Glu)
c.11184T>G (p.Asp3728Glu)
c.11109T>G (p.Asp3703Glu)
c.10809T>G (p.Asp3603Glu)
c.8073T>G (p.Asp2691Glu)
c.6966T>G (p.Asp2322Glu)
c.10992T>G (p.Asp3664Glu)
c.6744T>G (p.Asp2248Glu)
c.9972T>G (p.Asp3324Glu)
 gnomAD v4
8g.99861844G>ACA4825146VPS13Bc.*282G>A (n.*282G>A)
n.11258G>A
c.*6870G>A (n.*6870G>A)
c.11113G>A (p.Glu3705Lys)
c.11188G>A (p.Glu3730Lys)
c.11185G>A (p.Glu3729Lys)
c.11110G>A (p.Glu3704Lys)
c.10810G>A (p.Glu3604Lys)
c.8074G>A (p.Glu2692Lys)
c.6967G>A (p.Glu2323Lys)
c.10993G>A (p.Glu3665Lys)
c.6745G>A (p.Glu2249Lys)
c.9973G>A (p.Glu3325Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861844G>CCA371790470VPS13Bc.*282G>C (n.*282G>C)
n.11258G>C
c.*6870G>C (n.*6870G>C)
c.11113G>C (p.Glu3705Gln)
c.11188G>C (p.Glu3730Gln)
c.11185G>C (p.Glu3729Gln)
c.11110G>C (p.Glu3704Gln)
c.10810G>C (p.Glu3604Gln)
c.8074G>C (p.Glu2692Gln)
c.6967G>C (p.Glu2323Gln)
c.10993G>C (p.Glu3665Gln)
c.6745G>C (p.Glu2249Gln)
c.9973G>C (p.Glu3325Gln)
8g.99861844G>TCA182321424VPS13Bc.*282G>T (n.*282G>T)
n.11258G>T
c.*6870G>T (n.*6870G>T)
c.11113G>T (p.Glu3705Ter)
c.11188G>T (p.Glu3730Ter)
c.11185G>T (p.Glu3729Ter)
c.11110G>T (p.Glu3704Ter)
c.10810G>T (p.Glu3604Ter)
c.8074G>T (p.Glu2692Ter)
c.6967G>T (p.Glu2323Ter)
c.10993G>T (p.Glu3665Ter)
c.6745G>T (p.Glu2249Ter)
c.9973G>T (p.Glu3325Ter)
 dbSNP gnomAD v4
8g.99861845A>CCA371790474VPS13Bc.*283A>C (n.*283A>C)
n.11259A>C
c.*6871A>C (n.*6871A>C)
c.11114A>C (p.Glu3705Ala)
c.11189A>C (p.Glu3730Ala)
c.11186A>C (p.Glu3729Ala)
c.11111A>C (p.Glu3704Ala)
c.10811A>C (p.Glu3604Ala)
c.8075A>C (p.Glu2692Ala)
c.6968A>C (p.Glu2323Ala)
c.10994A>C (p.Glu3665Ala)
c.6746A>C (p.Glu2249Ala)
c.9974A>C (p.Glu3325Ala)
8g.99861845A>GCA371790476VPS13Bc.*283A>G (n.*283A>G)
n.11259A>G
c.*6871A>G (n.*6871A>G)
c.11114A>G (p.Glu3705Gly)
c.11189A>G (p.Glu3730Gly)
c.11186A>G (p.Glu3729Gly)
c.11111A>G (p.Glu3704Gly)
c.10811A>G (p.Glu3604Gly)
c.8075A>G (p.Glu2692Gly)
c.6968A>G (p.Glu2323Gly)
c.10994A>G (p.Glu3665Gly)
c.6746A>G (p.Glu2249Gly)
c.9974A>G (p.Glu3325Gly)
8g.99861845A>TCA4825147VPS13Bc.*283A>T (n.*283A>T)
n.11259A>T
c.*6871A>T (n.*6871A>T)
c.11114A>T (p.Glu3705Val)
c.11189A>T (p.Glu3730Val)
c.11186A>T (p.Glu3729Val)
c.11111A>T (p.Glu3704Val)
c.10811A>T (p.Glu3604Val)
c.8075A>T (p.Glu2692Val)
c.6968A>T (p.Glu2323Val)
c.10994A>T (p.Glu3665Val)
c.6746A>T (p.Glu2249Val)
c.9974A>T (p.Glu3325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861846G>ACA462338075VPS13Bc.*284G>A (n.*284G>A)
n.11260G>A
c.*6872G>A (n.*6872G>A)
c.11115G>A (p.Glu3705=)
c.11190G>A (p.Glu3730=)
c.11187G>A (p.Glu3729=)
c.11112G>A (p.Glu3704=)
c.10812G>A (p.Glu3604=)
c.8076G>A (p.Glu2692=)
c.6969G>A (p.Glu2323=)
c.10995G>A (p.Glu3665=)
c.6747G>A (p.Glu2249=)
c.9975G>A (p.Glu3325=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99861846G>CCA371790478VPS13Bc.*284G>C (n.*284G>C)
n.11260G>C
c.*6872G>C (n.*6872G>C)
c.11115G>C (p.Glu3705Asp)
c.11190G>C (p.Glu3730Asp)
c.11187G>C (p.Glu3729Asp)
c.11112G>C (p.Glu3704Asp)
c.10812G>C (p.Glu3604Asp)
c.8076G>C (p.Glu2692Asp)
c.6969G>C (p.Glu2323Asp)
c.10995G>C (p.Glu3665Asp)
c.6747G>C (p.Glu2249Asp)
c.9975G>C (p.Glu3325Asp)
8g.99861846G>TCA371790480VPS13Bc.*284G>T (n.*284G>T)
n.11260G>T
c.*6872G>T (n.*6872G>T)
c.11115G>T (p.Glu3705Asp)
c.11190G>T (p.Glu3730Asp)
c.11187G>T (p.Glu3729Asp)
c.11112G>T (p.Glu3704Asp)
c.10812G>T (p.Glu3604Asp)
c.8076G>T (p.Glu2692Asp)
c.6969G>T (p.Glu2323Asp)
c.10995G>T (p.Glu3665Asp)
c.6747G>T (p.Glu2249Asp)
c.9975G>T (p.Glu3325Asp)
8g.99861847G>ACA371790486VPS13Bc.*285G>A (n.*285G>A)
n.11261G>A
c.*6873G>A (n.*6873G>A)
c.11116G>A (p.Glu3706Lys)
c.11191G>A (p.Glu3731Lys)
c.11188G>A (p.Glu3730Lys)
c.11113G>A (p.Glu3705Lys)
c.10813G>A (p.Glu3605Lys)
c.8077G>A (p.Glu2693Lys)
c.6970G>A (p.Glu2324Lys)
c.10996G>A (p.Glu3666Lys)
c.6748G>A (p.Glu2250Lys)
c.9976G>A (p.Glu3326Lys)
 gnomAD v4
8g.99861847G>CCA371790484VPS13Bc.*285G>C (n.*285G>C)
n.11261G>C
c.*6873G>C (n.*6873G>C)
c.11116G>C (p.Glu3706Gln)
c.11191G>C (p.Glu3731Gln)
c.11188G>C (p.Glu3730Gln)
c.11113G>C (p.Glu3705Gln)
c.10813G>C (p.Glu3605Gln)
c.8077G>C (p.Glu2693Gln)
c.6970G>C (p.Glu2324Gln)
c.10996G>C (p.Glu3666Gln)
c.6748G>C (p.Glu2250Gln)
c.9976G>C (p.Glu3326Gln)
8g.99861847G>TCA371790482VPS13Bc.*285G>T (n.*285G>T)
n.11261G>T
c.*6873G>T (n.*6873G>T)
c.11116G>T (p.Glu3706Ter)
c.11191G>T (p.Glu3731Ter)
c.11188G>T (p.Glu3730Ter)
c.11113G>T (p.Glu3705Ter)
c.10813G>T (p.Glu3605Ter)
c.8077G>T (p.Glu2693Ter)
c.6970G>T (p.Glu2324Ter)
c.10996G>T (p.Glu3666Ter)
c.6748G>T (p.Glu2250Ter)
c.9976G>T (p.Glu3326Ter)
8g.99861848A>CCA371790487VPS13Bc.*286A>C (n.*286A>C)
n.11262A>C
c.*6874A>C (n.*6874A>C)
c.11117A>C (p.Glu3706Ala)
c.11192A>C (p.Glu3731Ala)
c.11189A>C (p.Glu3730Ala)
c.11114A>C (p.Glu3705Ala)
c.10814A>C (p.Glu3605Ala)
c.8078A>C (p.Glu2693Ala)
c.6971A>C (p.Glu2324Ala)
c.10997A>C (p.Glu3666Ala)
c.6749A>C (p.Glu2250Ala)
c.9977A>C (p.Glu3326Ala)
8g.99861848A>GCA371790489VPS13Bc.*286A>G (n.*286A>G)
n.11262A>G
c.*6874A>G (n.*6874A>G)
c.11117A>G (p.Glu3706Gly)
c.11192A>G (p.Glu3731Gly)
c.11189A>G (p.Glu3730Gly)
c.11114A>G (p.Glu3705Gly)
c.10814A>G (p.Glu3605Gly)
c.8078A>G (p.Glu2693Gly)
c.6971A>G (p.Glu2324Gly)
c.10997A>G (p.Glu3666Gly)
c.6749A>G (p.Glu2250Gly)
c.9977A>G (p.Glu3326Gly)
 gnomAD v4
8g.99861848A>TCA371790491VPS13Bc.*286A>T (n.*286A>T)
n.11262A>T
c.*6874A>T (n.*6874A>T)
c.11117A>T (p.Glu3706Val)
c.11192A>T (p.Glu3731Val)
c.11189A>T (p.Glu3730Val)
c.11114A>T (p.Glu3705Val)
c.10814A>T (p.Glu3605Val)
c.8078A>T (p.Glu2693Val)
c.6971A>T (p.Glu2324Val)
c.10997A>T (p.Glu3666Val)
c.6749A>T (p.Glu2250Val)
c.9977A>T (p.Glu3326Val)
 gnomAD v4
8g.99861849G>ACA4825148VPS13Bc.*287G>A (n.*287G>A)
n.11263G>A
c.*6875G>A (n.*6875G>A)
c.11118G>A (p.Glu3706=)
c.11193G>A (p.Glu3731=)
c.11190G>A (p.Glu3730=)
c.11115G>A (p.Glu3705=)
c.10815G>A (p.Glu3605=)
c.8079G>A (p.Glu2693=)
c.6972G>A (p.Glu2324=)
c.10998G>A (p.Glu3666=)
c.6750G>A (p.Glu2250=)
c.9978G>A (p.Glu3326=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861849G>CCA371790495VPS13Bc.*287G>C (n.*287G>C)
n.11263G>C
c.*6875G>C (n.*6875G>C)
c.11118G>C (p.Glu3706Asp)
c.11193G>C (p.Glu3731Asp)
c.11190G>C (p.Glu3730Asp)
c.11115G>C (p.Glu3705Asp)
c.10815G>C (p.Glu3605Asp)
c.8079G>C (p.Glu2693Asp)
c.6972G>C (p.Glu2324Asp)
c.10998G>C (p.Glu3666Asp)
c.6750G>C (p.Glu2250Asp)
c.9978G>C (p.Glu3326Asp)
8g.99861849G>TCA371790497VPS13Bc.*287G>T (n.*287G>T)
n.11263G>T
c.*6875G>T (n.*6875G>T)
c.11118G>T (p.Glu3706Asp)
c.11193G>T (p.Glu3731Asp)
c.11190G>T (p.Glu3730Asp)
c.11115G>T (p.Glu3705Asp)
c.10815G>T (p.Glu3605Asp)
c.8079G>T (p.Glu2693Asp)
c.6972G>T (p.Glu2324Asp)
c.10998G>T (p.Glu3666Asp)
c.6750G>T (p.Glu2250Asp)
c.9978G>T (p.Glu3326Asp)
 gnomAD v4
8g.99861850C>ACA371790499VPS13Bc.*288C>A (n.*288C>A)
n.11264C>A
c.*6876C>A (n.*6876C>A)
c.11119C>A (p.His3707Asn)
c.11194C>A (p.His3732Asn)
c.11191C>A (p.His3731Asn)
c.11116C>A (p.His3706Asn)
c.10816C>A (p.His3606Asn)
c.8080C>A (p.His2694Asn)
c.6973C>A (p.His2325Asn)
c.10999C>A (p.His3667Asn)
c.6751C>A (p.His2251Asn)
c.9979C>A (p.His3327Asn)
 gnomAD v4
8g.99861850C>GCA371790500VPS13Bc.*288C>G (n.*288C>G)
n.11264C>G
c.*6876C>G (n.*6876C>G)
c.11119C>G (p.His3707Asp)
c.11194C>G (p.His3732Asp)
c.11191C>G (p.His3731Asp)
c.11116C>G (p.His3706Asp)
c.10816C>G (p.His3606Asp)
c.8080C>G (p.His2694Asp)
c.6973C>G (p.His2325Asp)
c.10999C>G (p.His3667Asp)
c.6751C>G (p.His2251Asp)
c.9979C>G (p.His3327Asp)
8g.99861850C>TCA371790502VPS13Bc.*288C>T (n.*288C>T)
n.11264C>T
c.*6876C>T (n.*6876C>T)
c.11119C>T (p.His3707Tyr)
c.11194C>T (p.His3732Tyr)
c.11191C>T (p.His3731Tyr)
c.11116C>T (p.His3706Tyr)
c.10816C>T (p.His3606Tyr)
c.8080C>T (p.His2694Tyr)
c.6973C>T (p.His2325Tyr)
c.10999C>T (p.His3667Tyr)
c.6751C>T (p.His2251Tyr)
c.9979C>T (p.His3327Tyr)
8g.99861851A>CCA371790504VPS13Bc.*289A>C (n.*289A>C)
n.11265A>C
c.*6877A>C (n.*6877A>C)
c.11120A>C (p.His3707Pro)
c.11195A>C (p.His3732Pro)
c.11192A>C (p.His3731Pro)
c.11117A>C (p.His3706Pro)
c.10817A>C (p.His3606Pro)
c.8081A>C (p.His2694Pro)
c.6974A>C (p.His2325Pro)
c.11000A>C (p.His3667Pro)
c.6752A>C (p.His2251Pro)
c.9980A>C (p.His3327Pro)
8g.99861851A>GCA371790506VPS13Bc.*289A>G (n.*289A>G)
n.11265A>G
c.*6877A>G (n.*6877A>G)
c.11120A>G (p.His3707Arg)
c.11195A>G (p.His3732Arg)
c.11192A>G (p.His3731Arg)
c.11117A>G (p.His3706Arg)
c.10817A>G (p.His3606Arg)
c.8081A>G (p.His2694Arg)
c.6974A>G (p.His2325Arg)
c.11000A>G (p.His3667Arg)
c.6752A>G (p.His2251Arg)
c.9980A>G (p.His3327Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99861851A>TCA371790508VPS13Bc.*289A>T (n.*289A>T)
n.11265A>T
c.*6877A>T (n.*6877A>T)
c.11120A>T (p.His3707Leu)
c.11195A>T (p.His3732Leu)
c.11192A>T (p.His3731Leu)
c.11117A>T (p.His3706Leu)
c.10817A>T (p.His3606Leu)
c.8081A>T (p.His2694Leu)
c.6974A>T (p.His2325Leu)
c.11000A>T (p.His3667Leu)
c.6752A>T (p.His2251Leu)
c.9980A>T (p.His3327Leu)
8g.99861852C>ACA371790509VPS13Bc.*290C>A (n.*290C>A)
n.11266C>A
c.*6878C>A (n.*6878C>A)
c.11121C>A (p.His3707Gln)
c.11196C>A (p.His3732Gln)
c.11193C>A (p.His3731Gln)
c.11118C>A (p.His3706Gln)
c.10818C>A (p.His3606Gln)
c.8082C>A (p.His2694Gln)
c.6975C>A (p.His2325Gln)
c.11001C>A (p.His3667Gln)
c.6753C>A (p.His2251Gln)
c.9981C>A (p.His3327Gln)
 gnomAD v4
8g.99861852C>GCA371790511VPS13Bc.*290C>G (n.*290C>G)
n.11266C>G
c.*6878C>G (n.*6878C>G)
c.11121C>G (p.His3707Gln)
c.11196C>G (p.His3732Gln)
c.11193C>G (p.His3731Gln)
c.11118C>G (p.His3706Gln)
c.10818C>G (p.His3606Gln)
c.8082C>G (p.His2694Gln)
c.6975C>G (p.His2325Gln)
c.11001C>G (p.His3667Gln)
c.6753C>G (p.His2251Gln)
c.9981C>G (p.His3327Gln)
8g.99861852C>TCA462338076VPS13Bc.*290C>T (n.*290C>T)
n.11266C>T
c.*6878C>T (n.*6878C>T)
c.11121C>T (p.His3707=)
c.11196C>T (p.His3732=)
c.11193C>T (p.His3731=)
c.11118C>T (p.His3706=)
c.10818C>T (p.His3606=)
c.8082C>T (p.His2694=)
c.6975C>T (p.His2325=)
c.11001C>T (p.His3667=)
c.6753C>T (p.His2251=)
c.9981C>T (p.His3327=)
 gnomAD v4
8g.99861853T>ACA371790515VPS13Bc.*291T>A (n.*291T>A)
n.11267T>A
c.*6879T>A (n.*6879T>A)
c.11122T>A (p.Tyr3708Asn)
c.11197T>A (p.Tyr3733Asn)
c.11194T>A (p.Tyr3732Asn)
c.11119T>A (p.Tyr3707Asn)
c.10819T>A (p.Tyr3607Asn)
c.8083T>A (p.Tyr2695Asn)
c.6976T>A (p.Tyr2326Asn)
c.11002T>A (p.Tyr3668Asn)
c.6754T>A (p.Tyr2252Asn)
c.9982T>A (p.Tyr3328Asn)
8g.99861853T>CCA371790516VPS13Bc.*291T>C (n.*291T>C)
n.11267T>C
c.*6879T>C (n.*6879T>C)
c.11122T>C (p.Tyr3708His)
c.11197T>C (p.Tyr3733His)
c.11194T>C (p.Tyr3732His)
c.11119T>C (p.Tyr3707His)
c.10819T>C (p.Tyr3607His)
c.8083T>C (p.Tyr2695His)
c.6976T>C (p.Tyr2326His)
c.11002T>C (p.Tyr3668His)
c.6754T>C (p.Tyr2252His)
c.9982T>C (p.Tyr3328His)
 gnomAD v4
8g.99861853T>GCA371790514VPS13Bc.*291T>G (n.*291T>G)
n.11267T>G
c.*6879T>G (n.*6879T>G)
c.11122T>G (p.Tyr3708Asp)
c.11197T>G (p.Tyr3733Asp)
c.11194T>G (p.Tyr3732Asp)
c.11119T>G (p.Tyr3707Asp)
c.10819T>G (p.Tyr3607Asp)
c.8083T>G (p.Tyr2695Asp)
c.6976T>G (p.Tyr2326Asp)
c.11002T>G (p.Tyr3668Asp)
c.6754T>G (p.Tyr2252Asp)
c.9982T>G (p.Tyr3328Asp)
8g.99861854A>CCA371790517VPS13Bc.*292A>C (n.*292A>C)
n.11268A>C
c.*6880A>C (n.*6880A>C)
c.11123A>C (p.Tyr3708Ser)
c.11198A>C (p.Tyr3733Ser)
c.11195A>C (p.Tyr3732Ser)
c.11120A>C (p.Tyr3707Ser)
c.10820A>C (p.Tyr3607Ser)
c.8084A>C (p.Tyr2695Ser)
c.6977A>C (p.Tyr2326Ser)
c.11003A>C (p.Tyr3668Ser)
c.6755A>C (p.Tyr2252Ser)
c.9983A>C (p.Tyr3328Ser)
8g.99861854A>GCA371790520VPS13Bc.*292A>G (n.*292A>G)
n.11268A>G
c.*6880A>G (n.*6880A>G)
c.11123A>G (p.Tyr3708Cys)
c.11198A>G (p.Tyr3733Cys)
c.11195A>G (p.Tyr3732Cys)
c.11120A>G (p.Tyr3707Cys)
c.10820A>G (p.Tyr3607Cys)
c.8084A>G (p.Tyr2695Cys)
c.6977A>G (p.Tyr2326Cys)
c.11003A>G (p.Tyr3668Cys)
c.6755A>G (p.Tyr2252Cys)
c.9983A>G (p.Tyr3328Cys)
 dbSNP
8g.99861854A>TCA371790522VPS13Bc.*292A>T (n.*292A>T)
n.11268A>T
c.*6880A>T (n.*6880A>T)
c.11123A>T (p.Tyr3708Phe)
c.11198A>T (p.Tyr3733Phe)
c.11195A>T (p.Tyr3732Phe)
c.11120A>T (p.Tyr3707Phe)
c.10820A>T (p.Tyr3607Phe)
c.8084A>T (p.Tyr2695Phe)
c.6977A>T (p.Tyr2326Phe)
c.11003A>T (p.Tyr3668Phe)
c.6755A>T (p.Tyr2252Phe)
c.9983A>T (p.Tyr3328Phe)
8g.99861855C>ACA371790524VPS13Bc.*293C>A (n.*293C>A)
n.11269C>A
c.*6881C>A (n.*6881C>A)
c.11124C>A (p.Tyr3708Ter)
c.11199C>A (p.Tyr3733Ter)
c.11196C>A (p.Tyr3732Ter)
c.11121C>A (p.Tyr3707Ter)
c.10821C>A (p.Tyr3607Ter)
c.8085C>A (p.Tyr2695Ter)
c.6978C>A (p.Tyr2326Ter)
c.11004C>A (p.Tyr3668Ter)
c.6756C>A (p.Tyr2252Ter)
c.9984C>A (p.Tyr3328Ter)
 gnomAD v4
8g.99861855C>GCA371790526VPS13Bc.*293C>G (n.*293C>G)
n.11269C>G
c.*6881C>G (n.*6881C>G)
c.11124C>G (p.Tyr3708Ter)
c.11199C>G (p.Tyr3733Ter)
c.11196C>G (p.Tyr3732Ter)
c.11121C>G (p.Tyr3707Ter)
c.10821C>G (p.Tyr3607Ter)
c.8085C>G (p.Tyr2695Ter)
c.6978C>G (p.Tyr2326Ter)
c.11004C>G (p.Tyr3668Ter)
c.6756C>G (p.Tyr2252Ter)
c.9984C>G (p.Tyr3328Ter)
 ClinVar dbSNP
8g.99861855C>TCA462338079VPS13Bc.*293C>T (n.*293C>T)
n.11269C>T
c.*6881C>T (n.*6881C>T)
c.11124C>T (p.Tyr3708=)
c.11199C>T (p.Tyr3733=)
c.11196C>T (p.Tyr3732=)
c.11121C>T (p.Tyr3707=)
c.10821C>T (p.Tyr3607=)
c.8085C>T (p.Tyr2695=)
c.6978C>T (p.Tyr2326=)
c.11004C>T (p.Tyr3668=)
c.6756C>T (p.Tyr2252=)
c.9984C>T (p.Tyr3328=)
 ClinVar dbSNP
8g.99861855_99861856delinsTCA16618724VPS13Bc.*293_*294delinsT (n.*293_*294delinsT)
n.11269_11270delinsT
c.*6881_*6882delinsT (n.*6881_*6882delinsT)
c.11124_11125delinsT (p.Asn3709ThrfsTer?)
c.11199_11200delinsT (p.Asn3734ThrfsTer?)
c.11196_11197delinsT (p.Asn3733ThrfsTer?)
c.11121_11122delinsT (p.Asn3708ThrfsTer?)
c.10821_10822delinsT (p.Asn3608ThrfsTer?)
c.8085_8086delinsT (p.Asn2696ThrfsTer?)
c.6978_6979delinsT (p.Asn2327ThrfsTer?)
c.11004_11005delinsT (p.Asn3669ThrfsTer?)
c.6756_6757delinsT (p.Asn2253ThrfsTer?)
c.9984_9985delinsT (p.Asn3329ThrfsTer?)
 ClinVar dbSNP
8g.99861856A>CCA371790529VPS13Bc.*294A>C (n.*294A>C)
n.11270A>C
c.*6882A>C (n.*6882A>C)
c.11125A>C (p.Asn3709His)
c.11200A>C (p.Asn3734His)
c.11197A>C (p.Asn3733His)
c.11122A>C (p.Asn3708His)
c.10822A>C (p.Asn3608His)
c.8086A>C (p.Asn2696His)
c.6979A>C (p.Asn2327His)
c.11005A>C (p.Asn3669His)
c.6757A>C (p.Asn2253His)
c.9985A>C (p.Asn3329His)
8g.99861856A>GCA371790531VPS13Bc.*294A>G (n.*294A>G)
n.11270A>G
c.*6882A>G (n.*6882A>G)
c.11125A>G (p.Asn3709Asp)
c.11200A>G (p.Asn3734Asp)
c.11197A>G (p.Asn3733Asp)
c.11122A>G (p.Asn3708Asp)
c.10822A>G (p.Asn3608Asp)
c.8086A>G (p.Asn2696Asp)
c.6979A>G (p.Asn2327Asp)
c.11005A>G (p.Asn3669Asp)
c.6757A>G (p.Asn2253Asp)
c.9985A>G (p.Asn3329Asp)
8g.99861856A>TCA371790532VPS13Bc.*294A>T (n.*294A>T)
n.11270A>T
c.*6882A>T (n.*6882A>T)
c.11125A>T (p.Asn3709Tyr)
c.11200A>T (p.Asn3734Tyr)
c.11197A>T (p.Asn3733Tyr)
c.11122A>T (p.Asn3708Tyr)
c.10822A>T (p.Asn3608Tyr)
c.8086A>T (p.Asn2696Tyr)
c.6979A>T (p.Asn2327Tyr)
c.11005A>T (p.Asn3669Tyr)
c.6757A>T (p.Asn2253Tyr)
c.9985A>T (p.Asn3329Tyr)
8g.99861857A>CCA371790534VPS13Bc.*295A>C (n.*295A>C)
n.11271A>C
c.*6883A>C (n.*6883A>C)
c.11126A>C (p.Asn3709Thr)
c.11201A>C (p.Asn3734Thr)
c.11198A>C (p.Asn3733Thr)
c.11123A>C (p.Asn3708Thr)
c.10823A>C (p.Asn3608Thr)
c.8087A>C (p.Asn2696Thr)
c.6980A>C (p.Asn2327Thr)
c.11006A>C (p.Asn3669Thr)
c.6758A>C (p.Asn2253Thr)
c.9986A>C (p.Asn3329Thr)
8g.99861857A>GCA371790536VPS13Bc.*295A>G (n.*295A>G)
n.11271A>G
c.*6883A>G (n.*6883A>G)
c.11126A>G (p.Asn3709Ser)
c.11201A>G (p.Asn3734Ser)
c.11198A>G (p.Asn3733Ser)
c.11123A>G (p.Asn3708Ser)
c.10823A>G (p.Asn3608Ser)
c.8087A>G (p.Asn2696Ser)
c.6980A>G (p.Asn2327Ser)
c.11006A>G (p.Asn3669Ser)
c.6758A>G (p.Asn2253Ser)
c.9986A>G (p.Asn3329Ser)
 gnomAD v4
8g.99861857A>TCA371790538VPS13Bc.*295A>T (n.*295A>T)
n.11271A>T
c.*6883A>T (n.*6883A>T)
c.11126A>T (p.Asn3709Ile)
c.11201A>T (p.Asn3734Ile)
c.11198A>T (p.Asn3733Ile)
c.11123A>T (p.Asn3708Ile)
c.10823A>T (p.Asn3608Ile)
c.8087A>T (p.Asn2696Ile)
c.6980A>T (p.Asn2327Ile)
c.11006A>T (p.Asn3669Ile)
c.6758A>T (p.Asn2253Ile)
c.9986A>T (p.Asn3329Ile)
8g.99861858C>ACA4825149VPS13Bc.*296C>A (n.*296C>A)
n.11272C>A
c.*6884C>A (n.*6884C>A)
c.11127C>A (p.Asn3709Lys)
c.11202C>A (p.Asn3734Lys)
c.11199C>A (p.Asn3733Lys)
c.11124C>A (p.Asn3708Lys)
c.10824C>A (p.Asn3608Lys)
c.8088C>A (p.Asn2696Lys)
c.6981C>A (p.Asn2327Lys)
c.11007C>A (p.Asn3669Lys)
c.6759C>A (p.Asn2253Lys)
c.9987C>A (p.Asn3329Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861858C>GCA371790542VPS13Bc.*296C>G (n.*296C>G)
n.11272C>G
c.*6884C>G (n.*6884C>G)
c.11127C>G (p.Asn3709Lys)
c.11202C>G (p.Asn3734Lys)
c.11199C>G (p.Asn3733Lys)
c.11124C>G (p.Asn3708Lys)
c.10824C>G (p.Asn3608Lys)
c.8088C>G (p.Asn2696Lys)
c.6981C>G (p.Asn2327Lys)
c.11007C>G (p.Asn3669Lys)
c.6759C>G (p.Asn2253Lys)
c.9987C>G (p.Asn3329Lys)
8g.99861858C>TCA462338084VPS13Bc.*296C>T (n.*296C>T)
n.11272C>T
c.*6884C>T (n.*6884C>T)
c.11127C>T (p.Asn3709=)
c.11202C>T (p.Asn3734=)
c.11199C>T (p.Asn3733=)
c.11124C>T (p.Asn3708=)
c.10824C>T (p.Asn3608=)
c.8088C>T (p.Asn2696=)
c.6981C>T (p.Asn2327=)
c.11007C>T (p.Asn3669=)
c.6759C>T (p.Asn2253=)
c.9987C>T (p.Asn3329=)
8g.99861859C>ACA462338089VPS13Bc.*297C>A (n.*297C>A)
n.11273C>A
c.*6885C>A (n.*6885C>A)
c.11128C>A (p.Arg3710=)
c.11203C>A (p.Arg3735=)
c.11200C>A (p.Arg3734=)
c.11125C>A (p.Arg3709=)
c.10825C>A (p.Arg3609=)
c.8089C>A (p.Arg2697=)
c.6982C>A (p.Arg2328=)
c.11008C>A (p.Arg3670=)
c.6760C>A (p.Arg2254=)
c.9988C>A (p.Arg3330=)
 gnomAD v4 COSMIC COSMIC
8g.99861859C>GCA371790545VPS13Bc.*297C>G (n.*297C>G)
n.11273C>G
c.*6885C>G (n.*6885C>G)
c.11128C>G (p.Arg3710Gly)
c.11203C>G (p.Arg3735Gly)
c.11200C>G (p.Arg3734Gly)
c.11125C>G (p.Arg3709Gly)
c.10825C>G (p.Arg3609Gly)
c.8089C>G (p.Arg2697Gly)
c.6982C>G (p.Arg2328Gly)
c.11008C>G (p.Arg3670Gly)
c.6760C>G (p.Arg2254Gly)
c.9988C>G (p.Arg3330Gly)
8g.99861859C>TCA4825150VPS13Bc.*297C>T (n.*297C>T)
n.11273C>T
c.*6885C>T (n.*6885C>T)
c.11128C>T (p.Arg3710Trp)
c.11203C>T (p.Arg3735Trp)
c.11200C>T (p.Arg3734Trp)
c.11125C>T (p.Arg3709Trp)
c.10825C>T (p.Arg3609Trp)
c.8089C>T (p.Arg2697Trp)
c.6982C>T (p.Arg2328Trp)
c.11008C>T (p.Arg3670Trp)
c.6760C>T (p.Arg2254Trp)
c.9988C>T (p.Arg3330Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861860G>ACA182321452VPS13Bc.*298G>A (n.*298G>A)
n.11274G>A
c.*6886G>A (n.*6886G>A)
c.11129G>A (p.Arg3710Gln)
c.11204G>A (p.Arg3735Gln)
c.11201G>A (p.Arg3734Gln)
c.11126G>A (p.Arg3709Gln)
c.10826G>A (p.Arg3609Gln)
c.8090G>A (p.Arg2697Gln)
c.6983G>A (p.Arg2328Gln)
c.11009G>A (p.Arg3670Gln)
c.6761G>A (p.Arg2254Gln)
c.9989G>A (p.Arg3330Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861860G>CCA182321460VPS13Bc.*298G>C (n.*298G>C)
n.11274G>C
c.*6886G>C (n.*6886G>C)
c.11129G>C (p.Arg3710Pro)
c.11204G>C (p.Arg3735Pro)
c.11201G>C (p.Arg3734Pro)
c.11126G>C (p.Arg3709Pro)
c.10826G>C (p.Arg3609Pro)
c.8090G>C (p.Arg2697Pro)
c.6983G>C (p.Arg2328Pro)
c.11009G>C (p.Arg3670Pro)
c.6761G>C (p.Arg2254Pro)
c.9989G>C (p.Arg3330Pro)
 dbSNP
8g.99861860G>TCA371790550VPS13Bc.*298G>T (n.*298G>T)
n.11274G>T
c.*6886G>T (n.*6886G>T)
c.11129G>T (p.Arg3710Leu)
c.11204G>T (p.Arg3735Leu)
c.11201G>T (p.Arg3734Leu)
c.11126G>T (p.Arg3709Leu)
c.10826G>T (p.Arg3609Leu)
c.8090G>T (p.Arg2697Leu)
c.6983G>T (p.Arg2328Leu)
c.11009G>T (p.Arg3670Leu)
c.6761G>T (p.Arg2254Leu)
c.9989G>T (p.Arg3330Leu)
 gnomAD v4
8g.99861862_99861865delCA913128146VPS13Bc.*300_*303del (n.*300_*303del)
n.11276_11279del
c.*6888_*6891del (n.*6888_*6891del)
c.11131_11134del (p.Gln3711ArgfsTer?)
c.11206_11209del (p.Gln3736ArgfsTer?)
c.11203_11206del (p.Gln3735ArgfsTer?)
c.11128_11131del (p.Gln3710ArgfsTer?)
c.10828_10831del (p.Gln3610ArgfsTer?)
c.8092_8095del (p.Gln2698ArgfsTer?)
c.6985_6988del (p.Gln2329ArgfsTer?)
c.11011_11014del (p.Gln3671ArgfsTer?)
c.6763_6766del (p.Gln2255ArgfsTer?)
c.9991_9994del (p.Gln3331ArgfsTer?)
8g.99861861G>ACA462338098VPS13Bc.*299G>A (n.*299G>A)
n.11275G>A
c.*6887G>A (n.*6887G>A)
c.11130G>A (p.Arg3710=)
c.11205G>A (p.Arg3735=)
c.11202G>A (p.Arg3734=)
c.11127G>A (p.Arg3709=)
c.10827G>A (p.Arg3609=)
c.8091G>A (p.Arg2697=)
c.6984G>A (p.Arg2328=)
c.11010G>A (p.Arg3670=)
c.6762G>A (p.Arg2254=)
c.9990G>A (p.Arg3330=)
 gnomAD v4
8g.99861861G>CCA462338101VPS13Bc.*299G>C (n.*299G>C)
n.11275G>C
c.*6887G>C (n.*6887G>C)
c.11130G>C (p.Arg3710=)
c.11205G>C (p.Arg3735=)
c.11202G>C (p.Arg3734=)
c.11127G>C (p.Arg3709=)
c.10827G>C (p.Arg3609=)
c.8091G>C (p.Arg2697=)
c.6984G>C (p.Arg2328=)
c.11010G>C (p.Arg3670=)
c.6762G>C (p.Arg2254=)
c.9990G>C (p.Arg3330=)
8g.99861861G>TCA462338104VPS13Bc.*299G>T (n.*299G>T)
n.11275G>T
c.*6887G>T (n.*6887G>T)
c.11130G>T (p.Arg3710=)
c.11205G>T (p.Arg3735=)
c.11202G>T (p.Arg3734=)
c.11127G>T (p.Arg3709=)
c.10827G>T (p.Arg3609=)
c.8091G>T (p.Arg2697=)
c.6984G>T (p.Arg2328=)
c.11010G>T (p.Arg3670=)
c.6762G>T (p.Arg2254=)
c.9990G>T (p.Arg3330=)
 gnomAD v4
8g.99861862C>ACA371790552VPS13Bc.*300C>A (n.*300C>A)
n.11276C>A
c.*6888C>A (n.*6888C>A)
c.11131C>A (p.Gln3711Lys)
c.11206C>A (p.Gln3736Lys)
c.11203C>A (p.Gln3735Lys)
c.11128C>A (p.Gln3710Lys)
c.10828C>A (p.Gln3610Lys)
c.8092C>A (p.Gln2698Lys)
c.6985C>A (p.Gln2329Lys)
c.11011C>A (p.Gln3671Lys)
c.6763C>A (p.Gln2255Lys)
c.9991C>A (p.Gln3331Lys)
 gnomAD v4
8g.99861862C>GCA371790554VPS13Bc.*300C>G (n.*300C>G)
n.11276C>G
c.*6888C>G (n.*6888C>G)
c.11131C>G (p.Gln3711Glu)
c.11206C>G (p.Gln3736Glu)
c.11203C>G (p.Gln3735Glu)
c.11128C>G (p.Gln3710Glu)
c.10828C>G (p.Gln3610Glu)
c.8092C>G (p.Gln2698Glu)
c.6985C>G (p.Gln2329Glu)
c.11011C>G (p.Gln3671Glu)
c.6763C>G (p.Gln2255Glu)
c.9991C>G (p.Gln3331Glu)
8g.99861862C>TCA371790555VPS13Bc.*300C>T (n.*300C>T)
n.11276C>T
c.*6888C>T (n.*6888C>T)
c.11131C>T (p.Gln3711Ter)
c.11206C>T (p.Gln3736Ter)
c.11203C>T (p.Gln3735Ter)
c.11128C>T (p.Gln3710Ter)
c.10828C>T (p.Gln3610Ter)
c.8092C>T (p.Gln2698Ter)
c.6985C>T (p.Gln2329Ter)
c.11011C>T (p.Gln3671Ter)
c.6763C>T (p.Gln2255Ter)
c.9991C>T (p.Gln3331Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861862_99861863insTGGCA2688071998VPS13Bc.*300_*301insTGG (n.*300_*301insTGG)
n.11276_11277insTGG
c.*6888_*6889insTGG (n.*6888_*6889insTGG)
c.11131_11132insTGG (p.Gln3711delinsLeuGlu)
c.11206_11207insTGG (p.Gln3736delinsLeuGlu)
c.11203_11204insTGG (p.Gln3735delinsLeuGlu)
c.11128_11129insTGG (p.Gln3710delinsLeuGlu)
c.10828_10829insTGG (p.Gln3610delinsLeuGlu)
c.8092_8093insTGG (p.Gln2698delinsLeuGlu)
c.6985_6986insTGG (p.Gln2329delinsLeuGlu)
c.11011_11012insTGG (p.Gln3671delinsLeuGlu)
c.6763_6764insTGG (p.Gln2255delinsLeuGlu)
c.9991_9992insTGG (p.Gln3331delinsLeuGlu)
 gnomAD v4
8g.99861863A>CCA371790557VPS13Bc.*301A>C (n.*301A>C)
n.11277A>C
c.*6889A>C (n.*6889A>C)
c.11132A>C (p.Gln3711Pro)
c.11207A>C (p.Gln3736Pro)
c.11204A>C (p.Gln3735Pro)
c.11129A>C (p.Gln3710Pro)
c.10829A>C (p.Gln3610Pro)
c.8093A>C (p.Gln2698Pro)
c.6986A>C (p.Gln2329Pro)
c.11012A>C (p.Gln3671Pro)
c.6764A>C (p.Gln2255Pro)
c.9992A>C (p.Gln3331Pro)
8g.99861863A>GCA371790560VPS13Bc.*301A>G (n.*301A>G)
n.11277A>G
c.*6889A>G (n.*6889A>G)
c.11132A>G (p.Gln3711Arg)
c.11207A>G (p.Gln3736Arg)
c.11204A>G (p.Gln3735Arg)
c.11129A>G (p.Gln3710Arg)
c.10829A>G (p.Gln3610Arg)
c.8093A>G (p.Gln2698Arg)
c.6986A>G (p.Gln2329Arg)
c.11012A>G (p.Gln3671Arg)
c.6764A>G (p.Gln2255Arg)
c.9992A>G (p.Gln3331Arg)
8g.99861863A>TCA371790561VPS13Bc.*301A>T (n.*301A>T)
n.11277A>T
c.*6889A>T (n.*6889A>T)
c.11132A>T (p.Gln3711Leu)
c.11207A>T (p.Gln3736Leu)
c.11204A>T (p.Gln3735Leu)
c.11129A>T (p.Gln3710Leu)
c.10829A>T (p.Gln3610Leu)
c.8093A>T (p.Gln2698Leu)
c.6986A>T (p.Gln2329Leu)
c.11012A>T (p.Gln3671Leu)
c.6764A>T (p.Gln2255Leu)
c.9992A>T (p.Gln3331Leu)
8g.99861868_99861870delCA4825151VPS13Bc.*306_*308del (n.*306_*308del)
n.11282_11284del
c.*6894_*6896del (n.*6894_*6896del)
c.11137_11139del (p.Glu3713del)
c.11212_11214del (p.Glu3738del)
c.11209_11211del (p.Glu3737del)
c.11134_11136del (p.Glu3712del)
c.10834_10836del (p.Glu3612del)
c.8098_8100del (p.Glu2700del)
c.6991_6993del (p.Glu2331del)
c.11017_11019del (p.Glu3673del)
c.6769_6771del (p.Glu2257del)
c.9997_9999del (p.Glu3333del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861864G>ACA462338139VPS13Bc.*302G>A (n.*302G>A)
n.11278G>A
c.*6890G>A (n.*6890G>A)
c.11133G>A (p.Gln3711=)
c.11208G>A (p.Gln3736=)
c.11205G>A (p.Gln3735=)
c.11130G>A (p.Gln3710=)
c.10830G>A (p.Gln3610=)
c.8094G>A (p.Gln2698=)
c.6987G>A (p.Gln2329=)
c.11013G>A (p.Gln3671=)
c.6765G>A (p.Gln2255=)
c.9993G>A (p.Gln3331=)
 dbSNP gnomAD v4
8g.99861864G>CCA371790566VPS13Bc.*302G>C (n.*302G>C)
n.11278G>C
c.*6890G>C (n.*6890G>C)
c.11133G>C (p.Gln3711His)
c.11208G>C (p.Gln3736His)
c.11205G>C (p.Gln3735His)
c.11130G>C (p.Gln3710His)
c.10830G>C (p.Gln3610His)
c.8094G>C (p.Gln2698His)
c.6987G>C (p.Gln2329His)
c.11013G>C (p.Gln3671His)
c.6765G>C (p.Gln2255His)
c.9993G>C (p.Gln3331His)
8g.99861864G>TCA371790568VPS13Bc.*302G>T (n.*302G>T)
n.11278G>T
c.*6890G>T (n.*6890G>T)
c.11133G>T (p.Gln3711His)
c.11208G>T (p.Gln3736His)
c.11205G>T (p.Gln3735His)
c.11130G>T (p.Gln3710His)
c.10830G>T (p.Gln3610His)
c.8094G>T (p.Gln2698His)
c.6987G>T (p.Gln2329His)
c.11013G>T (p.Gln3671His)
c.6765G>T (p.Gln2255His)
c.9993G>T (p.Gln3331His)
 gnomAD v4
8g.99861865G>ACA371790569VPS13Bc.*303G>A (n.*303G>A)
n.11279G>A
c.*6891G>A (n.*6891G>A)
c.11134G>A (p.Glu3712Lys)
c.11209G>A (p.Glu3737Lys)
c.11206G>A (p.Glu3736Lys)
c.11131G>A (p.Glu3711Lys)
c.10831G>A (p.Glu3611Lys)
c.8095G>A (p.Glu2699Lys)
c.6988G>A (p.Glu2330Lys)
c.11014G>A (p.Glu3672Lys)
c.6766G>A (p.Glu2256Lys)
c.9994G>A (p.Glu3332Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861865G>CCA371790572VPS13Bc.*303G>C (n.*303G>C)
n.11279G>C
c.*6891G>C (n.*6891G>C)
c.11134G>C (p.Glu3712Gln)
c.11209G>C (p.Glu3737Gln)
c.11206G>C (p.Glu3736Gln)
c.11131G>C (p.Glu3711Gln)
c.10831G>C (p.Glu3611Gln)
c.8095G>C (p.Glu2699Gln)
c.6988G>C (p.Glu2330Gln)
c.11014G>C (p.Glu3672Gln)
c.6766G>C (p.Glu2256Gln)
c.9994G>C (p.Glu3332Gln)
8g.99861865G>TCA371790571VPS13Bc.*303G>T (n.*303G>T)
n.11279G>T
c.*6891G>T (n.*6891G>T)
c.11134G>T (p.Glu3712Ter)
c.11209G>T (p.Glu3737Ter)
c.11206G>T (p.Glu3736Ter)
c.11131G>T (p.Glu3711Ter)
c.10831G>T (p.Glu3611Ter)
c.8095G>T (p.Glu2699Ter)
c.6988G>T (p.Glu2330Ter)
c.11014G>T (p.Glu3672Ter)
c.6766G>T (p.Glu2256Ter)
c.9994G>T (p.Glu3332Ter)
8g.99861866A>CCA371790573VPS13Bc.*304A>C (n.*304A>C)
n.11280A>C
c.*6892A>C (n.*6892A>C)
c.11135A>C (p.Glu3712Ala)
c.11210A>C (p.Glu3737Ala)
c.11207A>C (p.Glu3736Ala)
c.11132A>C (p.Glu3711Ala)
c.10832A>C (p.Glu3611Ala)
c.8096A>C (p.Glu2699Ala)
c.6989A>C (p.Glu2330Ala)
c.11015A>C (p.Glu3672Ala)
c.6767A>C (p.Glu2256Ala)
c.9995A>C (p.Glu3332Ala)
8g.99861866A>GCA371790578VPS13Bc.*304A>G (n.*304A>G)
n.11280A>G
c.*6892A>G (n.*6892A>G)
c.11135A>G (p.Glu3712Gly)
c.11210A>G (p.Glu3737Gly)
c.11207A>G (p.Glu3736Gly)
c.11132A>G (p.Glu3711Gly)
c.10832A>G (p.Glu3611Gly)
c.8096A>G (p.Glu2699Gly)
c.6989A>G (p.Glu2330Gly)
c.11015A>G (p.Glu3672Gly)
c.6767A>G (p.Glu2256Gly)
c.9995A>G (p.Glu3332Gly)
8g.99861866A>TCA371790576VPS13Bc.*304A>T (n.*304A>T)
n.11280A>T
c.*6892A>T (n.*6892A>T)
c.11135A>T (p.Glu3712Val)
c.11210A>T (p.Glu3737Val)
c.11207A>T (p.Glu3736Val)
c.11132A>T (p.Glu3711Val)
c.10832A>T (p.Glu3611Val)
c.8096A>T (p.Glu2699Val)
c.6989A>T (p.Glu2330Val)
c.11015A>T (p.Glu3672Val)
c.6767A>T (p.Glu2256Val)
c.9995A>T (p.Glu3332Val)
 gnomAD v4
8g.99861867G>ACA462338154VPS13Bc.*305G>A (n.*305G>A)
n.11281G>A
c.*6893G>A (n.*6893G>A)
c.11136G>A (p.Glu3712=)
c.11211G>A (p.Glu3737=)
c.11208G>A (p.Glu3736=)
c.11133G>A (p.Glu3711=)
c.10833G>A (p.Glu3611=)
c.8097G>A (p.Glu2699=)
c.6990G>A (p.Glu2330=)
c.11016G>A (p.Glu3672=)
c.6768G>A (p.Glu2256=)
c.9996G>A (p.Glu3332=)
 dbSNP
8g.99861867G>CCA371790580VPS13Bc.*305G>C (n.*305G>C)
n.11281G>C
c.*6893G>C (n.*6893G>C)
c.11136G>C (p.Glu3712Asp)
c.11211G>C (p.Glu3737Asp)
c.11208G>C (p.Glu3736Asp)
c.11133G>C (p.Glu3711Asp)
c.10833G>C (p.Glu3611Asp)
c.8097G>C (p.Glu2699Asp)
c.6990G>C (p.Glu2330Asp)
c.11016G>C (p.Glu3672Asp)
c.6768G>C (p.Glu2256Asp)
c.9996G>C (p.Glu3332Asp)
8g.99861867G>TCA371790582VPS13Bc.*305G>T (n.*305G>T)
n.11281G>T
c.*6893G>T (n.*6893G>T)
c.11136G>T (p.Glu3712Asp)
c.11211G>T (p.Glu3737Asp)
c.11208G>T (p.Glu3736Asp)
c.11133G>T (p.Glu3711Asp)
c.10833G>T (p.Glu3611Asp)
c.8097G>T (p.Glu2699Asp)
c.6990G>T (p.Glu2330Asp)
c.11016G>T (p.Glu3672Asp)
c.6768G>T (p.Glu2256Asp)
c.9996G>T (p.Glu3332Asp)
8g.99861868G>ACA371790583VPS13Bc.*306G>A (n.*306G>A)
n.11282G>A
c.*6894G>A (n.*6894G>A)
c.11137G>A (p.Glu3713Lys)
c.11212G>A (p.Glu3738Lys)
c.11209G>A (p.Glu3737Lys)
c.11134G>A (p.Glu3712Lys)
c.10834G>A (p.Glu3612Lys)
c.8098G>A (p.Glu2700Lys)
c.6991G>A (p.Glu2331Lys)
c.11017G>A (p.Glu3673Lys)
c.6769G>A (p.Glu2257Lys)
c.9997G>A (p.Glu3333Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.99861868G>CCA371790587VPS13Bc.*306G>C (n.*306G>C)
n.11282G>C
c.*6894G>C (n.*6894G>C)
c.11137G>C (p.Glu3713Gln)
c.11212G>C (p.Glu3738Gln)
c.11209G>C (p.Glu3737Gln)
c.11134G>C (p.Glu3712Gln)
c.10834G>C (p.Glu3612Gln)
c.8098G>C (p.Glu2700Gln)
c.6991G>C (p.Glu2331Gln)
c.11017G>C (p.Glu3673Gln)
c.6769G>C (p.Glu2257Gln)
c.9997G>C (p.Glu3333Gln)
 gnomAD v4
8g.99861868G>TCA371790585VPS13Bc.*306G>T (n.*306G>T)
n.11282G>T
c.*6894G>T (n.*6894G>T)
c.11137G>T (p.Glu3713Ter)
c.11212G>T (p.Glu3738Ter)
c.11209G>T (p.Glu3737Ter)
c.11134G>T (p.Glu3712Ter)
c.10834G>T (p.Glu3612Ter)
c.8098G>T (p.Glu2700Ter)
c.6991G>T (p.Glu2331Ter)
c.11017G>T (p.Glu3673Ter)
c.6769G>T (p.Glu2257Ter)
c.9997G>T (p.Glu3333Ter)
 gnomAD v4
8g.99861869A>CCA371790589VPS13Bc.*307A>C (n.*307A>C)
n.11283A>C
c.*6895A>C (n.*6895A>C)
c.11138A>C (p.Glu3713Ala)
c.11213A>C (p.Glu3738Ala)
c.11210A>C (p.Glu3737Ala)
c.11135A>C (p.Glu3712Ala)
c.10835A>C (p.Glu3612Ala)
c.8099A>C (p.Glu2700Ala)
c.6992A>C (p.Glu2331Ala)
c.11018A>C (p.Glu3673Ala)
c.6770A>C (p.Glu2257Ala)
c.9998A>C (p.Glu3333Ala)
8g.99861869A>GCA371790591VPS13Bc.*307A>G (n.*307A>G)
n.11283A>G
c.*6895A>G (n.*6895A>G)
c.11138A>G (p.Glu3713Gly)
c.11213A>G (p.Glu3738Gly)
c.11210A>G (p.Glu3737Gly)
c.11135A>G (p.Glu3712Gly)
c.10835A>G (p.Glu3612Gly)
c.8099A>G (p.Glu2700Gly)
c.6992A>G (p.Glu2331Gly)
c.11018A>G (p.Glu3673Gly)
c.6770A>G (p.Glu2257Gly)
c.9998A>G (p.Glu3333Gly)
 dbSNP gnomAD v4
8g.99861869A>TCA371790593VPS13Bc.*307A>T (n.*307A>T)
n.11283A>T
c.*6895A>T (n.*6895A>T)
c.11138A>T (p.Glu3713Val)
c.11213A>T (p.Glu3738Val)
c.11210A>T (p.Glu3737Val)
c.11135A>T (p.Glu3712Val)
c.10835A>T (p.Glu3612Val)
c.8099A>T (p.Glu2700Val)
c.6992A>T (p.Glu2331Val)
c.11018A>T (p.Glu3673Val)
c.6770A>T (p.Glu2257Val)
c.9998A>T (p.Glu3333Val)
8g.99861870G>ACA462338175VPS13Bc.*308G>A (n.*308G>A)
n.11284G>A
c.*6896G>A (n.*6896G>A)
c.11139G>A (p.Glu3713=)
c.11214G>A (p.Glu3738=)
c.11211G>A (p.Glu3737=)
c.11136G>A (p.Glu3712=)
c.10836G>A (p.Glu3612=)
c.8100G>A (p.Glu2700=)
c.6993G>A (p.Glu2331=)
c.11019G>A (p.Glu3673=)
c.6771G>A (p.Glu2257=)
c.9999G>A (p.Glu3333=)
 ClinVar dbSNP gnomAD v4
8g.99861870G>CCA371790595VPS13Bc.*308G>C (n.*308G>C)
n.11284G>C
c.*6896G>C (n.*6896G>C)
c.11139G>C (p.Glu3713Asp)
c.11214G>C (p.Glu3738Asp)
c.11211G>C (p.Glu3737Asp)
c.11136G>C (p.Glu3712Asp)
c.10836G>C (p.Glu3612Asp)
c.8100G>C (p.Glu2700Asp)
c.6993G>C (p.Glu2331Asp)
c.11019G>C (p.Glu3673Asp)
c.6771G>C (p.Glu2257Asp)
c.9999G>C (p.Glu3333Asp)
8g.99861870G>TCA371790597VPS13Bc.*308G>T (n.*308G>T)
n.11284G>T
c.*6896G>T (n.*6896G>T)
c.11139G>T (p.Glu3713Asp)
c.11214G>T (p.Glu3738Asp)
c.11211G>T (p.Glu3737Asp)
c.11136G>T (p.Glu3712Asp)
c.10836G>T (p.Glu3612Asp)
c.8100G>T (p.Glu2700Asp)
c.6993G>T (p.Glu2331Asp)
c.11019G>T (p.Glu3673Asp)
c.6771G>T (p.Glu2257Asp)
c.9999G>T (p.Glu3333Asp)
8g.99861871T>ACA371790600VPS13Bc.*309T>A (n.*309T>A)
n.11285T>A
c.*6897T>A (n.*6897T>A)
c.11140T>A (p.Trp3714Arg)
c.11215T>A (p.Trp3739Arg)
c.11212T>A (p.Trp3738Arg)
c.11137T>A (p.Trp3713Arg)
c.10837T>A (p.Trp3613Arg)
c.8101T>A (p.Trp2701Arg)
c.6994T>A (p.Trp2332Arg)
c.11020T>A (p.Trp3674Arg)
c.6772T>A (p.Trp2258Arg)
c.10000T>A (p.Trp3334Arg)
8g.99861871T>CCA371790602VPS13Bc.*309T>C (n.*309T>C)
n.11285T>C
c.*6897T>C (n.*6897T>C)
c.11140T>C (p.Trp3714Arg)
c.11215T>C (p.Trp3739Arg)
c.11212T>C (p.Trp3738Arg)
c.11137T>C (p.Trp3713Arg)
c.10837T>C (p.Trp3613Arg)
c.8101T>C (p.Trp2701Arg)
c.6994T>C (p.Trp2332Arg)
c.11020T>C (p.Trp3674Arg)
c.6772T>C (p.Trp2258Arg)
c.10000T>C (p.Trp3334Arg)
8g.99861871T>GCA371790604VPS13Bc.*309T>G (n.*309T>G)
n.11285T>G
c.*6897T>G (n.*6897T>G)
c.11140T>G (p.Trp3714Gly)
c.11215T>G (p.Trp3739Gly)
c.11212T>G (p.Trp3738Gly)
c.11137T>G (p.Trp3713Gly)
c.10837T>G (p.Trp3613Gly)
c.8101T>G (p.Trp2701Gly)
c.6994T>G (p.Trp2332Gly)
c.11020T>G (p.Trp3674Gly)
c.6772T>G (p.Trp2258Gly)
c.10000T>G (p.Trp3334Gly)
 gnomAD v3 gnomAD v4
8g.99861872G>ACA264003VPS13Bc.*310G>A (n.*310G>A)
n.11286G>A
c.*6898G>A (n.*6898G>A)
c.11141G>A (p.Trp3714Ter)
c.11216G>A (p.Trp3739Ter)
c.11213G>A (p.Trp3738Ter)
c.11138G>A (p.Trp3713Ter)
c.10838G>A (p.Trp3613Ter)
c.8102G>A (p.Trp2701Ter)
c.6995G>A (p.Trp2332Ter)
c.11021G>A (p.Trp3674Ter)
c.6773G>A (p.Trp2258Ter)
c.10001G>A (p.Trp3334Ter)
 ClinVar dbSNP gnomAD v4
8g.99861872G>CCA371790608VPS13Bc.*310G>C (n.*310G>C)
n.11286G>C
c.*6898G>C (n.*6898G>C)
c.11141G>C (p.Trp3714Ser)
c.11216G>C (p.Trp3739Ser)
c.11213G>C (p.Trp3738Ser)
c.11138G>C (p.Trp3713Ser)
c.10838G>C (p.Trp3613Ser)
c.8102G>C (p.Trp2701Ser)
c.6995G>C (p.Trp2332Ser)
c.11021G>C (p.Trp3674Ser)
c.6773G>C (p.Trp2258Ser)
c.10001G>C (p.Trp3334Ser)
8g.99861872G>TCA371790610VPS13Bc.*310G>T (n.*310G>T)
n.11286G>T
c.*6898G>T (n.*6898G>T)
c.11141G>T (p.Trp3714Leu)
c.11216G>T (p.Trp3739Leu)
c.11213G>T (p.Trp3738Leu)
c.11138G>T (p.Trp3713Leu)
c.10838G>T (p.Trp3613Leu)
c.8102G>T (p.Trp2701Leu)
c.6995G>T (p.Trp2332Leu)
c.11021G>T (p.Trp3674Leu)
c.6773G>T (p.Trp2258Leu)
c.10001G>T (p.Trp3334Leu)
 gnomAD v4
8g.99861873G>ACA371790617VPS13Bc.*311G>A (n.*311G>A)
n.11287G>A
c.*6899G>A (n.*6899G>A)
c.11142G>A (p.Trp3714Ter)
c.11217G>A (p.Trp3739Ter)
c.11214G>A (p.Trp3738Ter)
c.11139G>A (p.Trp3713Ter)
c.10839G>A (p.Trp3613Ter)
c.8103G>A (p.Trp2701Ter)
c.6996G>A (p.Trp2332Ter)
c.11022G>A (p.Trp3674Ter)
c.6774G>A (p.Trp2258Ter)
c.10002G>A (p.Trp3334Ter)
 gnomAD v4
8g.99861873G>CCA371790613VPS13Bc.*311G>C (n.*311G>C)
n.11287G>C
c.*6899G>C (n.*6899G>C)
c.11142G>C (p.Trp3714Cys)
c.11217G>C (p.Trp3739Cys)
c.11214G>C (p.Trp3738Cys)
c.11139G>C (p.Trp3713Cys)
c.10839G>C (p.Trp3613Cys)
c.8103G>C (p.Trp2701Cys)
c.6996G>C (p.Trp2332Cys)
c.11022G>C (p.Trp3674Cys)
c.6774G>C (p.Trp2258Cys)
c.10002G>C (p.Trp3334Cys)
8g.99861873G>TCA371790615VPS13Bc.*311G>T (n.*311G>T)
n.11287G>T
c.*6899G>T (n.*6899G>T)
c.11142G>T (p.Trp3714Cys)
c.11217G>T (p.Trp3739Cys)
c.11214G>T (p.Trp3738Cys)
c.11139G>T (p.Trp3713Cys)
c.10839G>T (p.Trp3613Cys)
c.8103G>T (p.Trp2701Cys)
c.6996G>T (p.Trp2332Cys)
c.11022G>T (p.Trp3674Cys)
c.6774G>T (p.Trp2258Cys)
c.10002G>T (p.Trp3334Cys)
8g.99861874C>ACA462338193VPS13Bc.*312C>A (n.*312C>A)
n.11288C>A
c.*6900C>A (n.*6900C>A)
c.11143C>A (p.Arg3715=)
c.11218C>A (p.Arg3740=)
c.11215C>A (p.Arg3739=)
c.11140C>A (p.Arg3714=)
c.10840C>A (p.Arg3614=)
c.8104C>A (p.Arg2702=)
c.6997C>A (p.Arg2333=)
c.11023C>A (p.Arg3675=)
c.6775C>A (p.Arg2259=)
c.10003C>A (p.Arg3335=)
 dbSNP gnomAD v4
8g.99861874C>GCA371790618VPS13Bc.*312C>G (n.*312C>G)
n.11288C>G
c.*6900C>G (n.*6900C>G)
c.11143C>G (p.Arg3715Gly)
c.11218C>G (p.Arg3740Gly)
c.11215C>G (p.Arg3739Gly)
c.11140C>G (p.Arg3714Gly)
c.10840C>G (p.Arg3614Gly)
c.8104C>G (p.Arg2702Gly)
c.6997C>G (p.Arg2333Gly)
c.11023C>G (p.Arg3675Gly)
c.6775C>G (p.Arg2259Gly)
c.10003C>G (p.Arg3335Gly)
8g.99861874C>TCA182321480VPS13Bc.*312C>T (n.*312C>T)
n.11288C>T
c.*6900C>T (n.*6900C>T)
c.11143C>T (p.Arg3715Trp)
c.11218C>T (p.Arg3740Trp)
c.11215C>T (p.Arg3739Trp)
c.11140C>T (p.Arg3714Trp)
c.10840C>T (p.Arg3614Trp)
c.8104C>T (p.Arg2702Trp)
c.6997C>T (p.Arg2333Trp)
c.11023C>T (p.Arg3675Trp)
c.6775C>T (p.Arg2259Trp)
c.10003C>T (p.Arg3335Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861875G>ACA4825152VPS13Bc.*313G>A (n.*313G>A)
n.11289G>A
c.*6901G>A (n.*6901G>A)
c.11144G>A (p.Arg3715Gln)
c.11219G>A (p.Arg3740Gln)
c.11216G>A (p.Arg3739Gln)
c.11141G>A (p.Arg3714Gln)
c.10841G>A (p.Arg3614Gln)
c.8105G>A (p.Arg2702Gln)
c.6998G>A (p.Arg2333Gln)
c.11024G>A (p.Arg3675Gln)
c.6776G>A (p.Arg2259Gln)
c.10004G>A (p.Arg3335Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861875G>CCA371790619VPS13Bc.*313G>C (n.*313G>C)
n.11289G>C
c.*6901G>C (n.*6901G>C)
c.11144G>C (p.Arg3715Pro)
c.11219G>C (p.Arg3740Pro)
c.11216G>C (p.Arg3739Pro)
c.11141G>C (p.Arg3714Pro)
c.10841G>C (p.Arg3614Pro)
c.8105G>C (p.Arg2702Pro)
c.6998G>C (p.Arg2333Pro)
c.11024G>C (p.Arg3675Pro)
c.6776G>C (p.Arg2259Pro)
c.10004G>C (p.Arg3335Pro)
8g.99861875G>TCA371790620VPS13Bc.*313G>T (n.*313G>T)
n.11289G>T
c.*6901G>T (n.*6901G>T)
c.11144G>T (p.Arg3715Leu)
c.11219G>T (p.Arg3740Leu)
c.11216G>T (p.Arg3739Leu)
c.11141G>T (p.Arg3714Leu)
c.10841G>T (p.Arg3614Leu)
c.8105G>T (p.Arg2702Leu)
c.6998G>T (p.Arg2333Leu)
c.11024G>T (p.Arg3675Leu)
c.6776G>T (p.Arg2259Leu)
c.10004G>T (p.Arg3335Leu)
 dbSNP gnomAD v4
8g.99861876G>ACA462338199VPS13Bc.*314G>A (n.*314G>A)
n.11290G>A
c.*6902G>A (n.*6902G>A)
c.11145G>A (p.Arg3715=)
c.11220G>A (p.Arg3740=)
c.11217G>A (p.Arg3739=)
c.11142G>A (p.Arg3714=)
c.10842G>A (p.Arg3614=)
c.8106G>A (p.Arg2702=)
c.6999G>A (p.Arg2333=)
c.11025G>A (p.Arg3675=)
c.6777G>A (p.Arg2259=)
c.10005G>A (p.Arg3335=)
 gnomAD v4
8g.99861876G>CCA462338202VPS13Bc.*314G>C (n.*314G>C)
n.11290G>C
c.*6902G>C (n.*6902G>C)
c.11145G>C (p.Arg3715=)
c.11220G>C (p.Arg3740=)
c.11217G>C (p.Arg3739=)
c.11142G>C (p.Arg3714=)
c.10842G>C (p.Arg3614=)
c.8106G>C (p.Arg2702=)
c.6999G>C (p.Arg2333=)
c.11025G>C (p.Arg3675=)
c.6777G>C (p.Arg2259=)
c.10005G>C (p.Arg3335=)
8g.99861876G>TCA462338197VPS13Bc.*314G>T (n.*314G>T)
n.11290G>T
c.*6902G>T (n.*6902G>T)
c.11145G>T (p.Arg3715=)
c.11220G>T (p.Arg3740=)
c.11217G>T (p.Arg3739=)
c.11142G>T (p.Arg3714=)
c.10842G>T (p.Arg3614=)
c.8106G>T (p.Arg2702=)
c.6999G>T (p.Arg2333=)
c.11025G>T (p.Arg3675=)
c.6777G>T (p.Arg2259=)
c.10005G>T (p.Arg3335=)
 COSMIC COSMIC
8g.99861877C>ACA462338205VPS13Bc.*315C>A (n.*315C>A)
n.11291C>A
c.*6903C>A (n.*6903C>A)
c.11146C>A (p.Arg3716=)
c.11221C>A (p.Arg3741=)
c.11218C>A (p.Arg3740=)
c.11143C>A (p.Arg3715=)
c.10843C>A (p.Arg3615=)
c.8107C>A (p.Arg2703=)
c.7000C>A (p.Arg2334=)
c.11026C>A (p.Arg3676=)
c.6778C>A (p.Arg2260=)
c.10006C>A (p.Arg3336=)
 dbSNP gnomAD v2 gnomAD v4
8g.99861877C>GCA371790622VPS13Bc.*315C>G (n.*315C>G)
n.11291C>G
c.*6903C>G (n.*6903C>G)
c.11146C>G (p.Arg3716Gly)
c.11221C>G (p.Arg3741Gly)
c.11218C>G (p.Arg3740Gly)
c.11143C>G (p.Arg3715Gly)
c.10843C>G (p.Arg3615Gly)
c.8107C>G (p.Arg2703Gly)
c.7000C>G (p.Arg2334Gly)
c.11026C>G (p.Arg3676Gly)
c.6778C>G (p.Arg2260Gly)
c.10006C>G (p.Arg3336Gly)
 dbSNP gnomAD v4
8g.99861877C>TCA4825153VPS13Bc.*315C>T (n.*315C>T)
n.11291C>T
c.*6903C>T (n.*6903C>T)
c.11146C>T (p.Arg3716Trp)
c.11221C>T (p.Arg3741Trp)
c.11218C>T (p.Arg3740Trp)
c.11143C>T (p.Arg3715Trp)
c.10843C>T (p.Arg3615Trp)
c.8107C>T (p.Arg2703Trp)
c.7000C>T (p.Arg2334Trp)
c.11026C>T (p.Arg3676Trp)
c.6778C>T (p.Arg2260Trp)
c.10006C>T (p.Arg3336Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861878G>ACA4825154VPS13Bc.*316G>A (n.*316G>A)
n.11292G>A
c.*6904G>A (n.*6904G>A)
c.11147G>A (p.Arg3716Gln)
c.11222G>A (p.Arg3741Gln)
c.11219G>A (p.Arg3740Gln)
c.11144G>A (p.Arg3715Gln)
c.10844G>A (p.Arg3615Gln)
c.8108G>A (p.Arg2703Gln)
c.7001G>A (p.Arg2334Gln)
c.11027G>A (p.Arg3676Gln)
c.6779G>A (p.Arg2260Gln)
c.10007G>A (p.Arg3336Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861878G>CCA371790627VPS13Bc.*316G>C (n.*316G>C)
n.11292G>C
c.*6904G>C (n.*6904G>C)
c.11147G>C (p.Arg3716Pro)
c.11222G>C (p.Arg3741Pro)
c.11219G>C (p.Arg3740Pro)
c.11144G>C (p.Arg3715Pro)
c.10844G>C (p.Arg3615Pro)
c.8108G>C (p.Arg2703Pro)
c.7001G>C (p.Arg2334Pro)
c.11027G>C (p.Arg3676Pro)
c.6779G>C (p.Arg2260Pro)
c.10007G>C (p.Arg3336Pro)
8g.99861878G>TCA371790629VPS13Bc.*316G>T (n.*316G>T)
n.11292G>T
c.*6904G>T (n.*6904G>T)
c.11147G>T (p.Arg3716Leu)
c.11222G>T (p.Arg3741Leu)
c.11219G>T (p.Arg3740Leu)
c.11144G>T (p.Arg3715Leu)
c.10844G>T (p.Arg3615Leu)
c.8108G>T (p.Arg2703Leu)
c.7001G>T (p.Arg2334Leu)
c.11027G>T (p.Arg3676Leu)
c.6779G>T (p.Arg2260Leu)
c.10007G>T (p.Arg3336Leu)
8g.99861879G>ACA462338225VPS13Bc.*317G>A (n.*317G>A)
n.11293G>A
c.*6905G>A (n.*6905G>A)
c.11148G>A (p.Arg3716=)
c.11223G>A (p.Arg3741=)
c.11220G>A (p.Arg3740=)
c.11145G>A (p.Arg3715=)
c.10845G>A (p.Arg3615=)
c.8109G>A (p.Arg2703=)
c.7002G>A (p.Arg2334=)
c.11028G>A (p.Arg3676=)
c.6780G>A (p.Arg2260=)
c.10008G>A (p.Arg3336=)
 ClinVar dbSNP gnomAD v4
8g.99861879G>CCA462338227VPS13Bc.*317G>C (n.*317G>C)
n.11293G>C
c.*6905G>C (n.*6905G>C)
c.11148G>C (p.Arg3716=)
c.11223G>C (p.Arg3741=)
c.11220G>C (p.Arg3740=)
c.11145G>C (p.Arg3715=)
c.10845G>C (p.Arg3615=)
c.8109G>C (p.Arg2703=)
c.7002G>C (p.Arg2334=)
c.11028G>C (p.Arg3676=)
c.6780G>C (p.Arg2260=)
c.10008G>C (p.Arg3336=)
8g.99861879G>TCA462338230VPS13Bc.*317G>T (n.*317G>T)
n.11293G>T
c.*6905G>T (n.*6905G>T)
c.11148G>T (p.Arg3716=)
c.11223G>T (p.Arg3741=)
c.11220G>T (p.Arg3740=)
c.11145G>T (p.Arg3715=)
c.10845G>T (p.Arg3615=)
c.8109G>T (p.Arg2703=)
c.7002G>T (p.Arg2334=)
c.11028G>T (p.Arg3676=)
c.6780G>T (p.Arg2260=)
c.10008G>T (p.Arg3336=)
8g.99861880C>ACA371790634VPS13Bc.*318C>A (n.*318C>A)
n.11294C>A
c.*6906C>A (n.*6906C>A)
c.11149C>A (p.Gln3717Lys)
c.11224C>A (p.Gln3742Lys)
c.11221C>A (p.Gln3741Lys)
c.11146C>A (p.Gln3716Lys)
c.10846C>A (p.Gln3616Lys)
c.8110C>A (p.Gln2704Lys)
c.7003C>A (p.Gln2335Lys)
c.11029C>A (p.Gln3677Lys)
c.6781C>A (p.Gln2261Lys)
c.10009C>A (p.Gln3337Lys)
8g.99861880C>GCA371790633VPS13Bc.*318C>G (n.*318C>G)
n.11294C>G
c.*6906C>G (n.*6906C>G)
c.11149C>G (p.Gln3717Glu)
c.11224C>G (p.Gln3742Glu)
c.11221C>G (p.Gln3741Glu)
c.11146C>G (p.Gln3716Glu)
c.10846C>G (p.Gln3616Glu)
c.8110C>G (p.Gln2704Glu)
c.7003C>G (p.Gln2335Glu)
c.11029C>G (p.Gln3677Glu)
c.6781C>G (p.Gln2261Glu)
c.10009C>G (p.Gln3337Glu)
 dbSNP
8g.99861880C>TCA371790632VPS13Bc.*318C>T (n.*318C>T)
n.11294C>T
c.*6906C>T (n.*6906C>T)
c.11149C>T (p.Gln3717Ter)
c.11224C>T (p.Gln3742Ter)
c.11221C>T (p.Gln3741Ter)
c.11146C>T (p.Gln3716Ter)
c.10846C>T (p.Gln3616Ter)
c.8110C>T (p.Gln2704Ter)
c.7003C>T (p.Gln2335Ter)
c.11029C>T (p.Gln3677Ter)
c.6781C>T (p.Gln2261Ter)
c.10009C>T (p.Gln3337Ter)
8g.99861881A>CCA371790635VPS13Bc.*319A>C (n.*319A>C)
n.11295A>C
c.*6907A>C (n.*6907A>C)
c.11150A>C (p.Gln3717Pro)
c.11225A>C (p.Gln3742Pro)
c.11222A>C (p.Gln3741Pro)
c.11147A>C (p.Gln3716Pro)
c.10847A>C (p.Gln3616Pro)
c.8111A>C (p.Gln2704Pro)
c.7004A>C (p.Gln2335Pro)
c.11030A>C (p.Gln3677Pro)
c.6782A>C (p.Gln2261Pro)
c.10010A>C (p.Gln3337Pro)
8g.99861881A>GCA4825155VPS13Bc.*319A>G (n.*319A>G)
n.11295A>G
c.*6907A>G (n.*6907A>G)
c.11150A>G (p.Gln3717Arg)
c.11225A>G (p.Gln3742Arg)
c.11222A>G (p.Gln3741Arg)
c.11147A>G (p.Gln3716Arg)
c.10847A>G (p.Gln3616Arg)
c.8111A>G (p.Gln2704Arg)
c.7004A>G (p.Gln2335Arg)
c.11030A>G (p.Gln3677Arg)
c.6782A>G (p.Gln2261Arg)
c.10010A>G (p.Gln3337Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861881A>TCA371790636VPS13Bc.*319A>T (n.*319A>T)
n.11295A>T
c.*6907A>T (n.*6907A>T)
c.11150A>T (p.Gln3717Leu)
c.11225A>T (p.Gln3742Leu)
c.11222A>T (p.Gln3741Leu)
c.11147A>T (p.Gln3716Leu)
c.10847A>T (p.Gln3616Leu)
c.8111A>T (p.Gln2704Leu)
c.7004A>T (p.Gln2335Leu)
c.11030A>T (p.Gln3677Leu)
c.6782A>T (p.Gln2261Leu)
c.10010A>T (p.Gln3337Leu)
8g.99861882G>ACA462338245VPS13Bc.*320G>A (n.*320G>A)
n.11296G>A
c.*6908G>A (n.*6908G>A)
c.11151G>A (p.Gln3717=)
c.11226G>A (p.Gln3742=)
c.11223G>A (p.Gln3741=)
c.11148G>A (p.Gln3716=)
c.10848G>A (p.Gln3616=)
c.8112G>A (p.Gln2704=)
c.7005G>A (p.Gln2335=)
c.11031G>A (p.Gln3677=)
c.6783G>A (p.Gln2261=)
c.10011G>A (p.Gln3337=)
 gnomAD v4
8g.99861882G>CCA371790637VPS13Bc.*320G>C (n.*320G>C)
n.11296G>C
c.*6908G>C (n.*6908G>C)
c.11151G>C (p.Gln3717His)
c.11226G>C (p.Gln3742His)
c.11223G>C (p.Gln3741His)
c.11148G>C (p.Gln3716His)
c.10848G>C (p.Gln3616His)
c.8112G>C (p.Gln2704His)
c.7005G>C (p.Gln2335His)
c.11031G>C (p.Gln3677His)
c.6783G>C (p.Gln2261His)
c.10011G>C (p.Gln3337His)
8g.99861882G>TCA371790638VPS13Bc.*320G>T (n.*320G>T)
n.11296G>T
c.*6908G>T (n.*6908G>T)
c.11151G>T (p.Gln3717His)
c.11226G>T (p.Gln3742His)
c.11223G>T (p.Gln3741His)
c.11148G>T (p.Gln3716His)
c.10848G>T (p.Gln3616His)
c.8112G>T (p.Gln2704His)
c.7005G>T (p.Gln2335His)
c.11031G>T (p.Gln3677His)
c.6783G>T (p.Gln2261His)
c.10011G>T (p.Gln3337His)
8g.99861883C>ACA371790639VPS13Bc.*321C>A (n.*321C>A)
n.11297C>A
c.*6909C>A (n.*6909C>A)
c.11152C>A (p.Leu3718Ile)
c.11227C>A (p.Leu3743Ile)
c.11224C>A (p.Leu3742Ile)
c.11149C>A (p.Leu3717Ile)
c.10849C>A (p.Leu3617Ile)
c.8113C>A (p.Leu2705Ile)
c.7006C>A (p.Leu2336Ile)
c.11032C>A (p.Leu3678Ile)
c.6784C>A (p.Leu2262Ile)
c.10012C>A (p.Leu3338Ile)
 gnomAD v4
8g.99861883C>GCA371790640VPS13Bc.*321C>G (n.*321C>G)
n.11297C>G
c.*6909C>G (n.*6909C>G)
c.11152C>G (p.Leu3718Val)
c.11227C>G (p.Leu3743Val)
c.11224C>G (p.Leu3742Val)
c.11149C>G (p.Leu3717Val)
c.10849C>G (p.Leu3617Val)
c.8113C>G (p.Leu2705Val)
c.7006C>G (p.Leu2336Val)
c.11032C>G (p.Leu3678Val)
c.6784C>G (p.Leu2262Val)
c.10012C>G (p.Leu3338Val)
8g.99861883C>TCA371790641VPS13Bc.*321C>T (n.*321C>T)
n.11297C>T
c.*6909C>T (n.*6909C>T)
c.11152C>T (p.Leu3718Phe)
c.11227C>T (p.Leu3743Phe)
c.11224C>T (p.Leu3742Phe)
c.11149C>T (p.Leu3717Phe)
c.10849C>T (p.Leu3617Phe)
c.8113C>T (p.Leu2705Phe)
c.7006C>T (p.Leu2336Phe)
c.11032C>T (p.Leu3678Phe)
c.6784C>T (p.Leu2262Phe)
c.10012C>T (p.Leu3338Phe)
8g.99861884T>ACA371790642VPS13Bc.*322T>A (n.*322T>A)
n.11298T>A
c.*6910T>A (n.*6910T>A)
c.11153T>A (p.Leu3718His)
c.11228T>A (p.Leu3743His)
c.11225T>A (p.Leu3742His)
c.11150T>A (p.Leu3717His)
c.10850T>A (p.Leu3617His)
c.8114T>A (p.Leu2705His)
c.7007T>A (p.Leu2336His)
c.11033T>A (p.Leu3678His)
c.6785T>A (p.Leu2262His)
c.10013T>A (p.Leu3338His)
8g.99861884T>CCA371790643VPS13Bc.*322T>C (n.*322T>C)
n.11298T>C
c.*6910T>C (n.*6910T>C)
c.11153T>C (p.Leu3718Pro)
c.11228T>C (p.Leu3743Pro)
c.11225T>C (p.Leu3742Pro)
c.11150T>C (p.Leu3717Pro)
c.10850T>C (p.Leu3617Pro)
c.8114T>C (p.Leu2705Pro)
c.7007T>C (p.Leu2336Pro)
c.11033T>C (p.Leu3678Pro)
c.6785T>C (p.Leu2262Pro)
c.10013T>C (p.Leu3338Pro)
8g.99861884T>GCA371790644VPS13Bc.*322T>G (n.*322T>G)
n.11298T>G
c.*6910T>G (n.*6910T>G)
c.11153T>G (p.Leu3718Arg)
c.11228T>G (p.Leu3743Arg)
c.11225T>G (p.Leu3742Arg)
c.11150T>G (p.Leu3717Arg)
c.10850T>G (p.Leu3617Arg)
c.8114T>G (p.Leu2705Arg)
c.7007T>G (p.Leu2336Arg)
c.11033T>G (p.Leu3678Arg)
c.6785T>G (p.Leu2262Arg)
c.10013T>G (p.Leu3338Arg)
8g.99861885C>ACA462338258VPS13Bc.*323C>A (n.*323C>A)
n.11299C>A
c.*6911C>A (n.*6911C>A)
c.11154C>A (p.Leu3718=)
c.11229C>A (p.Leu3743=)
c.11226C>A (p.Leu3742=)
c.11151C>A (p.Leu3717=)
c.10851C>A (p.Leu3617=)
c.8115C>A (p.Leu2705=)
c.7008C>A (p.Leu2336=)
c.11034C>A (p.Leu3678=)
c.6786C>A (p.Leu2262=)
c.10014C>A (p.Leu3338=)
8g.99861885C>GCA462338261VPS13Bc.*323C>G (n.*323C>G)
n.11299C>G
c.*6911C>G (n.*6911C>G)
c.11154C>G (p.Leu3718=)
c.11229C>G (p.Leu3743=)
c.11226C>G (p.Leu3742=)
c.11151C>G (p.Leu3717=)
c.10851C>G (p.Leu3617=)
c.8115C>G (p.Leu2705=)
c.7008C>G (p.Leu2336=)
c.11034C>G (p.Leu3678=)
c.6786C>G (p.Leu2262=)
c.10014C>G (p.Leu3338=)
8g.99861885C>TCA182321525VPS13Bc.*323C>T (n.*323C>T)
n.11299C>T
c.*6911C>T (n.*6911C>T)
c.11154C>T (p.Leu3718=)
c.11229C>T (p.Leu3743=)
c.11226C>T (p.Leu3742=)
c.11151C>T (p.Leu3717=)
c.10851C>T (p.Leu3617=)
c.8115C>T (p.Leu2705=)
c.7008C>T (p.Leu2336=)
c.11034C>T (p.Leu3678=)
c.6786C>T (p.Leu2262=)
c.10014C>T (p.Leu3338=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99861886C>ACA371790647VPS13Bc.*324C>A (n.*324C>A)
n.11300C>A
c.*6912C>A (n.*6912C>A)
c.11155C>A (p.Pro3719Thr)
c.11230C>A (p.Pro3744Thr)
c.11227C>A (p.Pro3743Thr)
c.11152C>A (p.Pro3718Thr)
c.10852C>A (p.Pro3618Thr)
c.8116C>A (p.Pro2706Thr)
c.7009C>A (p.Pro2337Thr)
c.11035C>A (p.Pro3679Thr)
c.6787C>A (p.Pro2263Thr)
c.10015C>A (p.Pro3339Thr)
 gnomAD v4
8g.99861886C>GCA371790646VPS13Bc.*324C>G (n.*324C>G)
n.11300C>G
c.*6912C>G (n.*6912C>G)
c.11155C>G (p.Pro3719Ala)
c.11230C>G (p.Pro3744Ala)
c.11227C>G (p.Pro3743Ala)
c.11152C>G (p.Pro3718Ala)
c.10852C>G (p.Pro3618Ala)
c.8116C>G (p.Pro2706Ala)
c.7009C>G (p.Pro2337Ala)
c.11035C>G (p.Pro3679Ala)
c.6787C>G (p.Pro2263Ala)
c.10015C>G (p.Pro3339Ala)
8g.99861886C>TCA371790645VPS13Bc.*324C>T (n.*324C>T)
n.11300C>T
c.*6912C>T (n.*6912C>T)
c.11155C>T (p.Pro3719Ser)
c.11230C>T (p.Pro3744Ser)
c.11227C>T (p.Pro3743Ser)
c.11152C>T (p.Pro3718Ser)
c.10852C>T (p.Pro3618Ser)
c.8116C>T (p.Pro2706Ser)
c.7009C>T (p.Pro2337Ser)
c.11035C>T (p.Pro3679Ser)
c.6787C>T (p.Pro2263Ser)
c.10015C>T (p.Pro3339Ser)
8g.99861887C>ACA371790648VPS13Bc.*325C>A (n.*325C>A)
n.11301C>A
c.*6913C>A (n.*6913C>A)
c.11156C>A (p.Pro3719His)
c.11231C>A (p.Pro3744His)
c.11228C>A (p.Pro3743His)
c.11153C>A (p.Pro3718His)
c.10853C>A (p.Pro3618His)
c.8117C>A (p.Pro2706His)
c.7010C>A (p.Pro2337His)
c.11036C>A (p.Pro3679His)
c.6788C>A (p.Pro2263His)
c.10016C>A (p.Pro3339His)
 gnomAD v4
8g.99861887C>GCA371790649VPS13Bc.*325C>G (n.*325C>G)
n.11301C>G
c.*6913C>G (n.*6913C>G)
c.11156C>G (p.Pro3719Arg)
c.11231C>G (p.Pro3744Arg)
c.11228C>G (p.Pro3743Arg)
c.11153C>G (p.Pro3718Arg)
c.10853C>G (p.Pro3618Arg)
c.8117C>G (p.Pro2706Arg)
c.7010C>G (p.Pro2337Arg)
c.11036C>G (p.Pro3679Arg)
c.6788C>G (p.Pro2263Arg)
c.10016C>G (p.Pro3339Arg)
 COSMIC
8g.99861887C>TCA371790650VPS13Bc.*325C>T (n.*325C>T)
n.11301C>T
c.*6913C>T (n.*6913C>T)
c.11156C>T (p.Pro3719Leu)
c.11231C>T (p.Pro3744Leu)
c.11228C>T (p.Pro3743Leu)
c.11153C>T (p.Pro3718Leu)
c.10853C>T (p.Pro3618Leu)
c.8117C>T (p.Pro2706Leu)
c.7010C>T (p.Pro2337Leu)
c.11036C>T (p.Pro3679Leu)
c.6788C>T (p.Pro2263Leu)
c.10016C>T (p.Pro3339Leu)
8g.99861888C>ACA462338275VPS13Bc.*326C>A (n.*326C>A)
n.11302C>A
c.*6914C>A (n.*6914C>A)
c.11157C>A (p.Pro3719=)
c.11232C>A (p.Pro3744=)
c.11229C>A (p.Pro3743=)
c.11154C>A (p.Pro3718=)
c.10854C>A (p.Pro3618=)
c.8118C>A (p.Pro2706=)
c.7011C>A (p.Pro2337=)
c.11037C>A (p.Pro3679=)
c.6789C>A (p.Pro2263=)
c.10017C>A (p.Pro3339=)
 gnomAD v4
8g.99861888C>GCA462338277VPS13Bc.*326C>G (n.*326C>G)
n.11302C>G
c.*6914C>G (n.*6914C>G)
c.11157C>G (p.Pro3719=)
c.11232C>G (p.Pro3744=)
c.11229C>G (p.Pro3743=)
c.11154C>G (p.Pro3718=)
c.10854C>G (p.Pro3618=)
c.8118C>G (p.Pro2706=)
c.7011C>G (p.Pro2337=)
c.11037C>G (p.Pro3679=)
c.6789C>G (p.Pro2263=)
c.10017C>G (p.Pro3339=)
8g.99861888C>TCA4825156VPS13Bc.*326C>T (n.*326C>T)
n.11302C>T
c.*6914C>T (n.*6914C>T)
c.11157C>T (p.Pro3719=)
c.11232C>T (p.Pro3744=)
c.11229C>T (p.Pro3743=)
c.11154C>T (p.Pro3718=)
c.10854C>T (p.Pro3618=)
c.8118C>T (p.Pro2706=)
c.7011C>T (p.Pro2337=)
c.11037C>T (p.Pro3679=)
c.6789C>T (p.Pro2263=)
c.10017C>T (p.Pro3339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861889G>ACA4825157VPS13Bc.*327G>A (n.*327G>A)
n.11303G>A
c.*6915G>A (n.*6915G>A)
c.11158G>A (p.Glu3720Lys)
c.11233G>A (p.Glu3745Lys)
c.11230G>A (p.Glu3744Lys)
c.11155G>A (p.Glu3719Lys)
c.10855G>A (p.Glu3619Lys)
c.8119G>A (p.Glu2707Lys)
c.7012G>A (p.Glu2338Lys)
c.11038G>A (p.Glu3680Lys)
c.6790G>A (p.Glu2264Lys)
c.10018G>A (p.Glu3340Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861889G>CCA371790651VPS13Bc.*327G>C (n.*327G>C)
n.11303G>C
c.*6915G>C (n.*6915G>C)
c.11158G>C (p.Glu3720Gln)
c.11233G>C (p.Glu3745Gln)
c.11230G>C (p.Glu3744Gln)
c.11155G>C (p.Glu3719Gln)
c.10855G>C (p.Glu3619Gln)
c.8119G>C (p.Glu2707Gln)
c.7012G>C (p.Glu2338Gln)
c.11038G>C (p.Glu3680Gln)
c.6790G>C (p.Glu2264Gln)
c.10018G>C (p.Glu3340Gln)
 gnomAD v4
8g.99861889G>TCA371790652VPS13Bc.*327G>T (n.*327G>T)
n.11303G>T
c.*6915G>T (n.*6915G>T)
c.11158G>T (p.Glu3720Ter)
c.11233G>T (p.Glu3745Ter)
c.11230G>T (p.Glu3744Ter)
c.11155G>T (p.Glu3719Ter)
c.10855G>T (p.Glu3619Ter)
c.8119G>T (p.Glu2707Ter)
c.7012G>T (p.Glu2338Ter)
c.11038G>T (p.Glu3680Ter)
c.6790G>T (p.Glu2264Ter)
c.10018G>T (p.Glu3340Ter)
 ClinVar gnomAD v4
8g.99861890A>CCA371790653VPS13Bc.*328A>C (n.*328A>C)
n.11304A>C
c.*6916A>C (n.*6916A>C)
c.11159A>C (p.Glu3720Ala)
c.11234A>C (p.Glu3745Ala)
c.11231A>C (p.Glu3744Ala)
c.11156A>C (p.Glu3719Ala)
c.10856A>C (p.Glu3619Ala)
c.8120A>C (p.Glu2707Ala)
c.7013A>C (p.Glu2338Ala)
c.11039A>C (p.Glu3680Ala)
c.6791A>C (p.Glu2264Ala)
c.10019A>C (p.Glu3340Ala)
8g.99861890A>GCA371790654VPS13Bc.*328A>G (n.*328A>G)
n.11304A>G
c.*6916A>G (n.*6916A>G)
c.11159A>G (p.Glu3720Gly)
c.11234A>G (p.Glu3745Gly)
c.11231A>G (p.Glu3744Gly)
c.11156A>G (p.Glu3719Gly)
c.10856A>G (p.Glu3619Gly)
c.8120A>G (p.Glu2707Gly)
c.7013A>G (p.Glu2338Gly)
c.11039A>G (p.Glu3680Gly)
c.6791A>G (p.Glu2264Gly)
c.10019A>G (p.Glu3340Gly)
8g.99861890A>TCA371790655VPS13Bc.*328A>T (n.*328A>T)
n.11304A>T
c.*6916A>T (n.*6916A>T)
c.11159A>T (p.Glu3720Val)
c.11234A>T (p.Glu3745Val)
c.11231A>T (p.Glu3744Val)
c.11156A>T (p.Glu3719Val)
c.10856A>T (p.Glu3619Val)
c.8120A>T (p.Glu2707Val)
c.7013A>T (p.Glu2338Val)
c.11039A>T (p.Glu3680Val)
c.6791A>T (p.Glu2264Val)
c.10019A>T (p.Glu3340Val)
8g.99861891G>ACA462338329VPS13Bc.*329G>A (n.*329G>A)
n.11305G>A
c.*6917G>A (n.*6917G>A)
c.11160G>A (p.Glu3720=)
c.11235G>A (p.Glu3745=)
c.11232G>A (p.Glu3744=)
c.11157G>A (p.Glu3719=)
c.10857G>A (p.Glu3619=)
c.8121G>A (p.Glu2707=)
c.7014G>A (p.Glu2338=)
c.11040G>A (p.Glu3680=)
c.6792G>A (p.Glu2264=)
c.10020G>A (p.Glu3340=)
8g.99861891G>CCA371790656VPS13Bc.*329G>C (n.*329G>C)
n.11305G>C
c.*6917G>C (n.*6917G>C)
c.11160G>C (p.Glu3720Asp)
c.11235G>C (p.Glu3745Asp)
c.11232G>C (p.Glu3744Asp)
c.11157G>C (p.Glu3719Asp)
c.10857G>C (p.Glu3619Asp)
c.8121G>C (p.Glu2707Asp)
c.7014G>C (p.Glu2338Asp)
c.11040G>C (p.Glu3680Asp)
c.6792G>C (p.Glu2264Asp)
c.10020G>C (p.Glu3340Asp)
 dbSNP
8g.99861891G>TCA371790657VPS13Bc.*329G>T (n.*329G>T)
n.11305G>T
c.*6917G>T (n.*6917G>T)
c.11160G>T (p.Glu3720Asp)
c.11235G>T (p.Glu3745Asp)
c.11232G>T (p.Glu3744Asp)
c.11157G>T (p.Glu3719Asp)
c.10857G>T (p.Glu3619Asp)
c.8121G>T (p.Glu2707Asp)
c.7014G>T (p.Glu2338Asp)
c.11040G>T (p.Glu3680Asp)
c.6792G>T (p.Glu2264Asp)
c.10020G>T (p.Glu3340Asp)
8g.99861892A>CCA371790659VPS13Bc.*330A>C (n.*330A>C)
n.11306A>C
c.*6918A>C (n.*6918A>C)
c.11161A>C (p.Ser3721Arg)
c.11236A>C (p.Ser3746Arg)
c.11233A>C (p.Ser3745Arg)
c.11158A>C (p.Ser3720Arg)
c.10858A>C (p.Ser3620Arg)
c.8122A>C (p.Ser2708Arg)
c.7015A>C (p.Ser2339Arg)
c.11041A>C (p.Ser3681Arg)
c.6793A>C (p.Ser2265Arg)
c.10021A>C (p.Ser3341Arg)
8g.99861892A>GCA371790660VPS13Bc.*330A>G (n.*330A>G)
n.11306A>G
c.*6918A>G (n.*6918A>G)
c.11161A>G (p.Ser3721Gly)
c.11236A>G (p.Ser3746Gly)
c.11233A>G (p.Ser3745Gly)
c.11158A>G (p.Ser3720Gly)
c.10858A>G (p.Ser3620Gly)
c.8122A>G (p.Ser2708Gly)
c.7015A>G (p.Ser2339Gly)
c.11041A>G (p.Ser3681Gly)
c.6793A>G (p.Ser2265Gly)
c.10021A>G (p.Ser3341Gly)
8g.99861892A>TCA371790658VPS13Bc.*330A>T (n.*330A>T)
n.11306A>T
c.*6918A>T (n.*6918A>T)
c.11161A>T (p.Ser3721Cys)
c.11236A>T (p.Ser3746Cys)
c.11233A>T (p.Ser3745Cys)
c.11158A>T (p.Ser3720Cys)
c.10858A>T (p.Ser3620Cys)
c.8122A>T (p.Ser2708Cys)
c.7015A>T (p.Ser2339Cys)
c.11041A>T (p.Ser3681Cys)
c.6793A>T (p.Ser2265Cys)
c.10021A>T (p.Ser3341Cys)
8g.99861892dupCA2497231636VPS13Bc.*330dup (n.*330dup)
n.11306dup
c.*6918dup (n.*6918dup)
c.11161dup (p.Ser3721LysfsTer26)
c.11236dup (p.Ser3746LysfsTer26)
c.11233dup (p.Ser3745LysfsTer26)
c.11158dup (p.Ser3720LysfsTer26)
c.10858dup (p.Ser3620LysfsTer26)
c.8122dup (p.Ser2708LysfsTer26)
c.7015dup (p.Ser2339LysfsTer26)
c.11041dup (p.Ser3681LysfsTer26)
c.6793dup (p.Ser2265LysfsTer26)
c.10021dup (p.Ser3341LysfsTer26)
 dbSNP
8g.99861893G>ACA371790661VPS13Bc.*331G>A (n.*331G>A)
n.11307G>A
c.*6919G>A (n.*6919G>A)
c.11162G>A (p.Ser3721Asn)
c.11237G>A (p.Ser3746Asn)
c.11234G>A (p.Ser3745Asn)
c.11159G>A (p.Ser3720Asn)
c.10859G>A (p.Ser3620Asn)
c.8123G>A (p.Ser2708Asn)
c.7016G>A (p.Ser2339Asn)
c.11042G>A (p.Ser3681Asn)
c.6794G>A (p.Ser2265Asn)
c.10022G>A (p.Ser3341Asn)
8g.99861893G>CCA371790662VPS13Bc.*331G>C (n.*331G>C)
n.11307G>C
c.*6919G>C (n.*6919G>C)
c.11162G>C (p.Ser3721Thr)
c.11237G>C (p.Ser3746Thr)
c.11234G>C (p.Ser3745Thr)
c.11159G>C (p.Ser3720Thr)
c.10859G>C (p.Ser3620Thr)
c.8123G>C (p.Ser2708Thr)
c.7016G>C (p.Ser2339Thr)
c.11042G>C (p.Ser3681Thr)
c.6794G>C (p.Ser2265Thr)
c.10022G>C (p.Ser3341Thr)
8g.99861893G>TCA371790663VPS13Bc.*331G>T (n.*331G>T)
n.11307G>T
c.*6919G>T (n.*6919G>T)
c.11162G>T (p.Ser3721Ile)
c.11237G>T (p.Ser3746Ile)
c.11234G>T (p.Ser3745Ile)
c.11159G>T (p.Ser3720Ile)
c.10859G>T (p.Ser3620Ile)
c.8123G>T (p.Ser2708Ile)
c.7016G>T (p.Ser2339Ile)
c.11042G>T (p.Ser3681Ile)
c.6794G>T (p.Ser2265Ile)
c.10022G>T (p.Ser3341Ile)
 gnomAD v4
8g.99861893_99861894delCA16041273VPS13Bc.*331_*332del (n.*331_*332del)
n.11307_11308del
c.*6919_*6920del (n.*6919_*6920del)
c.11162_11163del (p.Ser3721ThrfsTer25)
c.11237_11238del (p.Ser3746ThrfsTer25)
c.11234_11235del (p.Ser3745ThrfsTer25)
c.11159_11160del (p.Ser3720ThrfsTer25)
c.10859_10860del (p.Ser3620ThrfsTer25)
c.8123_8124del (p.Ser2708ThrfsTer25)
c.7016_7017del (p.Ser2339ThrfsTer25)
c.11042_11043del (p.Ser3681ThrfsTer25)
c.6794_6795del (p.Ser2265ThrfsTer25)
c.10022_10023del (p.Ser3341ThrfsTer25)
 ClinVar dbSNP
8g.99861894C>ACA371790664VPS13Bc.*332C>A (n.*332C>A)
n.11308C>A
c.*6920C>A (n.*6920C>A)
c.11163C>A (p.Ser3721Arg)
c.11238C>A (p.Ser3746Arg)
c.11235C>A (p.Ser3745Arg)
c.11160C>A (p.Ser3720Arg)
c.10860C>A (p.Ser3620Arg)
c.8124C>A (p.Ser2708Arg)
c.7017C>A (p.Ser2339Arg)
c.11043C>A (p.Ser3681Arg)
c.6795C>A (p.Ser2265Arg)
c.10023C>A (p.Ser3341Arg)
 gnomAD v4
8g.99861894C>GCA371790665VPS13Bc.*332C>G (n.*332C>G)
n.11308C>G
c.*6920C>G (n.*6920C>G)
c.11163C>G (p.Ser3721Arg)
c.11238C>G (p.Ser3746Arg)
c.11235C>G (p.Ser3745Arg)
c.11160C>G (p.Ser3720Arg)
c.10860C>G (p.Ser3620Arg)
c.8124C>G (p.Ser2708Arg)
c.7017C>G (p.Ser2339Arg)
c.11043C>G (p.Ser3681Arg)
c.6795C>G (p.Ser2265Arg)
c.10023C>G (p.Ser3341Arg)
8g.99861894C>TCA462338350VPS13Bc.*332C>T (n.*332C>T)
n.11308C>T
c.*6920C>T (n.*6920C>T)
c.11163C>T (p.Ser3721=)
c.11238C>T (p.Ser3746=)
c.11235C>T (p.Ser3745=)
c.11160C>T (p.Ser3720=)
c.10860C>T (p.Ser3620=)
c.8124C>T (p.Ser2708=)
c.7017C>T (p.Ser2339=)
c.11043C>T (p.Ser3681=)
c.6795C>T (p.Ser2265=)
c.10023C>T (p.Ser3341=)
 gnomAD v4
8g.99861895C>ACA371790667VPS13Bc.*333C>A (n.*333C>A)
n.11309C>A
c.*6921C>A (n.*6921C>A)
c.11164C>A (p.Leu3722Met)
c.11239C>A (p.Leu3747Met)
c.11236C>A (p.Leu3746Met)
c.11161C>A (p.Leu3721Met)
c.10861C>A (p.Leu3621Met)
c.8125C>A (p.Leu2709Met)
c.7018C>A (p.Leu2340Met)
c.11044C>A (p.Leu3682Met)
c.6796C>A (p.Leu2266Met)
c.10024C>A (p.Leu3342Met)
 gnomAD v4
8g.99861895C>GCA371790666VPS13Bc.*333C>G (n.*333C>G)
n.11309C>G
c.*6921C>G (n.*6921C>G)
c.11164C>G (p.Leu3722Val)
c.11239C>G (p.Leu3747Val)
c.11236C>G (p.Leu3746Val)
c.11161C>G (p.Leu3721Val)
c.10861C>G (p.Leu3621Val)
c.8125C>G (p.Leu2709Val)
c.7018C>G (p.Leu2340Val)
c.11044C>G (p.Leu3682Val)
c.6796C>G (p.Leu2266Val)
c.10024C>G (p.Leu3342Val)
8g.99861895C>TCA462338356VPS13Bc.*333C>T (n.*333C>T)
n.11309C>T
c.*6921C>T (n.*6921C>T)
c.11164C>T (p.Leu3722=)
c.11239C>T (p.Leu3747=)
c.11236C>T (p.Leu3746=)
c.11161C>T (p.Leu3721=)
c.10861C>T (p.Leu3621=)
c.8125C>T (p.Leu2709=)
c.7018C>T (p.Leu2340=)
c.11044C>T (p.Leu3682=)
c.6796C>T (p.Leu2266=)
c.10024C>T (p.Leu3342=)
8g.99861896T>ACA371790668VPS13Bc.*334T>A (n.*334T>A)
n.11310T>A
c.*6922T>A (n.*6922T>A)
c.11165T>A (p.Leu3722Gln)
c.11240T>A (p.Leu3747Gln)
c.11237T>A (p.Leu3746Gln)
c.11162T>A (p.Leu3721Gln)
c.10862T>A (p.Leu3621Gln)
c.8126T>A (p.Leu2709Gln)
c.7019T>A (p.Leu2340Gln)
c.11045T>A (p.Leu3682Gln)
c.6797T>A (p.Leu2266Gln)
c.10025T>A (p.Leu3342Gln)
8g.99861896T>CCA371790669VPS13Bc.*334T>C (n.*334T>C)
n.11310T>C
c.*6922T>C (n.*6922T>C)
c.11165T>C (p.Leu3722Pro)
c.11240T>C (p.Leu3747Pro)
c.11237T>C (p.Leu3746Pro)
c.11162T>C (p.Leu3721Pro)
c.10862T>C (p.Leu3621Pro)
c.8126T>C (p.Leu2709Pro)
c.7019T>C (p.Leu2340Pro)
c.11045T>C (p.Leu3682Pro)
c.6797T>C (p.Leu2266Pro)
c.10025T>C (p.Leu3342Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.99861896T>GCA371790670VPS13Bc.*334T>G (n.*334T>G)
n.11310T>G
c.*6922T>G (n.*6922T>G)
c.11165T>G (p.Leu3722Arg)
c.11240T>G (p.Leu3747Arg)
c.11237T>G (p.Leu3746Arg)
c.11162T>G (p.Leu3721Arg)
c.10862T>G (p.Leu3621Arg)
c.8126T>G (p.Leu2709Arg)
c.7019T>G (p.Leu2340Arg)
c.11045T>G (p.Leu3682Arg)
c.6797T>G (p.Leu2266Arg)
c.10025T>G (p.Leu3342Arg)
8g.99861897G>ACA462338364VPS13Bc.*335G>A (n.*335G>A)
n.11311G>A
c.*6923G>A (n.*6923G>A)
c.11166G>A (p.Leu3722=)
c.11241G>A (p.Leu3747=)
c.11238G>A (p.Leu3746=)
c.11163G>A (p.Leu3721=)
c.10863G>A (p.Leu3621=)
c.8127G>A (p.Leu2709=)
c.7020G>A (p.Leu2340=)
c.11046G>A (p.Leu3682=)
c.6798G>A (p.Leu2266=)
c.10026G>A (p.Leu3342=)
8g.99861897G>CCA462338366VPS13Bc.*335G>C (n.*335G>C)
n.11311G>C
c.*6923G>C (n.*6923G>C)
c.11166G>C (p.Leu3722=)
c.11241G>C (p.Leu3747=)
c.11238G>C (p.Leu3746=)
c.11163G>C (p.Leu3721=)
c.10863G>C (p.Leu3621=)
c.8127G>C (p.Leu2709=)
c.7020G>C (p.Leu2340=)
c.11046G>C (p.Leu3682=)
c.6798G>C (p.Leu2266=)
c.10026G>C (p.Leu3342=)
8g.99861897G>TCA462338368VPS13Bc.*335G>T (n.*335G>T)
n.11311G>T
c.*6923G>T (n.*6923G>T)
c.11166G>T (p.Leu3722=)
c.11241G>T (p.Leu3747=)
c.11238G>T (p.Leu3746=)
c.11163G>T (p.Leu3721=)
c.10863G>T (p.Leu3621=)
c.8127G>T (p.Leu2709=)
c.7020G>T (p.Leu2340=)
c.11046G>T (p.Leu3682=)
c.6798G>T (p.Leu2266=)
c.10026G>T (p.Leu3342=)
 gnomAD v4
8g.99861898G>ACA371790671VPS13Bc.*336G>A (n.*336G>A)
n.11312G>A
c.*6924G>A (n.*6924G>A)
c.11167G>A (p.Gly3723Ser)
c.11242G>A (p.Gly3748Ser)
c.11239G>A (p.Gly3747Ser)
c.11164G>A (p.Gly3722Ser)
c.10864G>A (p.Gly3622Ser)
c.8128G>A (p.Gly2710Ser)
c.7021G>A (p.Gly2341Ser)
c.11047G>A (p.Gly3683Ser)
c.6799G>A (p.Gly2267Ser)
c.10027G>A (p.Gly3343Ser)
 ClinVar COSMIC
8g.99861898G>CCA371790672VPS13Bc.*336G>C (n.*336G>C)
n.11312G>C
c.*6924G>C (n.*6924G>C)
c.11167G>C (p.Gly3723Arg)
c.11242G>C (p.Gly3748Arg)
c.11239G>C (p.Gly3747Arg)
c.11164G>C (p.Gly3722Arg)
c.10864G>C (p.Gly3622Arg)
c.8128G>C (p.Gly2710Arg)
c.7021G>C (p.Gly2341Arg)
c.11047G>C (p.Gly3683Arg)
c.6799G>C (p.Gly2267Arg)
c.10027G>C (p.Gly3343Arg)
 ClinVar dbSNP
8g.99861898G>TCA371790673VPS13Bc.*336G>T (n.*336G>T)
n.11312G>T
c.*6924G>T (n.*6924G>T)
c.11167G>T (p.Gly3723Cys)
c.11242G>T (p.Gly3748Cys)
c.11239G>T (p.Gly3747Cys)
c.11164G>T (p.Gly3722Cys)
c.10864G>T (p.Gly3622Cys)
c.8128G>T (p.Gly2710Cys)
c.7021G>T (p.Gly2341Cys)
c.11047G>T (p.Gly3683Cys)
c.6799G>T (p.Gly2267Cys)
c.10027G>T (p.Gly3343Cys)
8g.99861899G>ACA371790674VPS13Bc.*337G>A (n.*337G>A)
n.11313G>A
c.*6925G>A (n.*6925G>A)
c.11168G>A (p.Gly3723Asp)
c.11243G>A (p.Gly3748Asp)
c.11240G>A (p.Gly3747Asp)
c.11165G>A (p.Gly3722Asp)
c.10865G>A (p.Gly3622Asp)
c.8129G>A (p.Gly2710Asp)
c.7022G>A (p.Gly2341Asp)
c.11048G>A (p.Gly3683Asp)
c.6800G>A (p.Gly2267Asp)
c.10028G>A (p.Gly3343Asp)
 COSMIC COSMIC
8g.99861899G>CCA371790676VPS13Bc.*337G>C (n.*337G>C)
n.11313G>C
c.*6925G>C (n.*6925G>C)
c.11168G>C (p.Gly3723Ala)
c.11243G>C (p.Gly3748Ala)
c.11240G>C (p.Gly3747Ala)
c.11165G>C (p.Gly3722Ala)
c.10865G>C (p.Gly3622Ala)
c.8129G>C (p.Gly2710Ala)
c.7022G>C (p.Gly2341Ala)
c.11048G>C (p.Gly3683Ala)
c.6800G>C (p.Gly2267Ala)
c.10028G>C (p.Gly3343Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.99861899G>TCA371790675VPS13Bc.*337G>T (n.*337G>T)
n.11313G>T
c.*6925G>T (n.*6925G>T)
c.11168G>T (p.Gly3723Val)
c.11243G>T (p.Gly3748Val)
c.11240G>T (p.Gly3747Val)
c.11165G>T (p.Gly3722Val)
c.10865G>T (p.Gly3622Val)
c.8129G>T (p.Gly2710Val)
c.7022G>T (p.Gly2341Val)
c.11048G>T (p.Gly3683Val)
c.6800G>T (p.Gly2267Val)
c.10028G>T (p.Gly3343Val)
 gnomAD v4
8g.99861900C>ACA462338382VPS13Bc.*338C>A (n.*338C>A)
n.11314C>A
c.*6926C>A (n.*6926C>A)
c.11169C>A (p.Gly3723=)
c.11244C>A (p.Gly3748=)
c.11241C>A (p.Gly3747=)
c.11166C>A (p.Gly3722=)
c.10866C>A (p.Gly3622=)
c.8130C>A (p.Gly2710=)
c.7023C>A (p.Gly2341=)
c.11049C>A (p.Gly3683=)
c.6801C>A (p.Gly2267=)
c.10029C>A (p.Gly3343=)
 gnomAD v4
8g.99861900C>GCA462338384VPS13Bc.*338C>G (n.*338C>G)
n.11314C>G
c.*6926C>G (n.*6926C>G)
c.11169C>G (p.Gly3723=)
c.11244C>G (p.Gly3748=)
c.11241C>G (p.Gly3747=)
c.11166C>G (p.Gly3722=)
c.10866C>G (p.Gly3622=)
c.8130C>G (p.Gly2710=)
c.7023C>G (p.Gly2341=)
c.11049C>G (p.Gly3683=)
c.6801C>G (p.Gly2267=)
c.10029C>G (p.Gly3343=)
 ClinVar dbSNP gnomAD v4
8g.99861900C>TCA462338386VPS13Bc.*338C>T (n.*338C>T)
n.11314C>T
c.*6926C>T (n.*6926C>T)
c.11169C>T (p.Gly3723=)
c.11244C>T (p.Gly3748=)
c.11241C>T (p.Gly3747=)
c.11166C>T (p.Gly3722=)
c.10866C>T (p.Gly3622=)
c.8130C>T (p.Gly2710=)
c.7023C>T (p.Gly2341=)
c.11049C>T (p.Gly3683=)
c.6801C>T (p.Gly2267=)
c.10029C>T (p.Gly3343=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99861901G>ACA4825158VPS13Bc.*339G>A (n.*339G>A)
n.11315G>A
c.*6927G>A (n.*6927G>A)
c.11170G>A (p.Glu3724Lys)
c.11245G>A (p.Glu3749Lys)
c.11242G>A (p.Glu3748Lys)
c.11167G>A (p.Glu3723Lys)
c.10867G>A (p.Glu3623Lys)
c.8131G>A (p.Glu2711Lys)
c.7024G>A (p.Glu2342Lys)
c.11050G>A (p.Glu3684Lys)
c.6802G>A (p.Glu2268Lys)
c.10030G>A (p.Glu3344Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861901G>CCA371790677VPS13Bc.*339G>C (n.*339G>C)
n.11315G>C
c.*6927G>C (n.*6927G>C)
c.11170G>C (p.Glu3724Gln)
c.11245G>C (p.Glu3749Gln)
c.11242G>C (p.Glu3748Gln)
c.11167G>C (p.Glu3723Gln)
c.10867G>C (p.Glu3623Gln)
c.8131G>C (p.Glu2711Gln)
c.7024G>C (p.Glu2342Gln)
c.11050G>C (p.Glu3684Gln)
c.6802G>C (p.Glu2268Gln)
c.10030G>C (p.Glu3344Gln)
8g.99861901G>TCA284770VPS13Bc.*339G>T (n.*339G>T)
n.11315G>T
c.*6927G>T (n.*6927G>T)
c.11170G>T (p.Glu3724Ter)
c.11245G>T (p.Glu3749Ter)
c.11242G>T (p.Glu3748Ter)
c.11167G>T (p.Glu3723Ter)
c.10867G>T (p.Glu3623Ter)
c.8131G>T (p.Glu2711Ter)
c.7024G>T (p.Glu2342Ter)
c.11050G>T (p.Glu3684Ter)
c.6802G>T (p.Glu2268Ter)
c.10030G>T (p.Glu3344Ter)
 ClinVar dbSNP gnomAD v4
8g.99861902_99861905dupCA16042625VPS13Bc.*340_*343dup (n.*340_*343dup)
n.11316_11319dup
c.*6928_*6931dup (n.*6928_*6931dup)
c.11171_11174dup (p.Leu3726GlyfsTer22)
c.11246_11249dup (p.Leu3751GlyfsTer22)
c.11243_11246dup (p.Leu3750GlyfsTer22)
c.11168_11171dup (p.Leu3725GlyfsTer22)
c.10868_10871dup (p.Leu3625GlyfsTer22)
c.8132_8135dup (p.Leu2713GlyfsTer22)
c.7025_7028dup (p.Leu2344GlyfsTer22)
c.11051_11054dup (p.Leu3686GlyfsTer22)
c.6803_6806dup (p.Leu2270GlyfsTer22)
c.10031_10034dup (p.Leu3346GlyfsTer22)
 ClinVar dbSNP
8g.99861902A>CCA371790678VPS13Bc.*340A>C (n.*340A>C)
n.11316A>C
c.*6928A>C (n.*6928A>C)
c.11171A>C (p.Glu3724Ala)
c.11246A>C (p.Glu3749Ala)
c.11243A>C (p.Glu3748Ala)
c.11168A>C (p.Glu3723Ala)
c.10868A>C (p.Glu3623Ala)
c.8132A>C (p.Glu2711Ala)
c.7025A>C (p.Glu2342Ala)
c.11051A>C (p.Glu3684Ala)
c.6803A>C (p.Glu2268Ala)
c.10031A>C (p.Glu3344Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.99861902A>GCA371790679VPS13Bc.*340A>G (n.*340A>G)
n.11316A>G
c.*6928A>G (n.*6928A>G)
c.11171A>G (p.Glu3724Gly)
c.11246A>G (p.Glu3749Gly)
c.11243A>G (p.Glu3748Gly)
c.11168A>G (p.Glu3723Gly)
c.10868A>G (p.Glu3623Gly)
c.8132A>G (p.Glu2711Gly)
c.7025A>G (p.Glu2342Gly)
c.11051A>G (p.Glu3684Gly)
c.6803A>G (p.Glu2268Gly)
c.10031A>G (p.Glu3344Gly)
 gnomAD v4
8g.99861902A>TCA371790680VPS13Bc.*340A>T (n.*340A>T)
n.11316A>T
c.*6928A>T (n.*6928A>T)
c.11171A>T (p.Glu3724Val)
c.11246A>T (p.Glu3749Val)
c.11243A>T (p.Glu3748Val)
c.11168A>T (p.Glu3723Val)
c.10868A>T (p.Glu3623Val)
c.8132A>T (p.Glu2711Val)
c.7025A>T (p.Glu2342Val)
c.11051A>T (p.Glu3684Val)
c.6803A>T (p.Glu2268Val)
c.10031A>T (p.Glu3344Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99861903G>ACA462338400VPS13Bc.*341G>A (n.*341G>A)
n.11317G>A
c.*6929G>A (n.*6929G>A)
c.11172G>A (p.Glu3724=)
c.11247G>A (p.Glu3749=)
c.11244G>A (p.Glu3748=)
c.11169G>A (p.Glu3723=)
c.10869G>A (p.Glu3623=)
c.8133G>A (p.Glu2711=)
c.7026G>A (p.Glu2342=)
c.11052G>A (p.Glu3684=)
c.6804G>A (p.Glu2268=)
c.10032G>A (p.Glu3344=)
 dbSNP
8g.99861903G>CCA371790681VPS13Bc.*341G>C (n.*341G>C)
n.11317G>C
c.*6929G>C (n.*6929G>C)
c.11172G>C (p.Glu3724Asp)
c.11247G>C (p.Glu3749Asp)
c.11244G>C (p.Glu3748Asp)
c.11169G>C (p.Glu3723Asp)
c.10869G>C (p.Glu3623Asp)
c.8133G>C (p.Glu2711Asp)
c.7026G>C (p.Glu2342Asp)
c.11052G>C (p.Glu3684Asp)
c.6804G>C (p.Glu2268Asp)
c.10032G>C (p.Glu3344Asp)
8g.99861903G>TCA371790682VPS13Bc.*341G>T (n.*341G>T)
n.11317G>T
c.*6929G>T (n.*6929G>T)
c.11172G>T (p.Glu3724Asp)
c.11247G>T (p.Glu3749Asp)
c.11244G>T (p.Glu3748Asp)
c.11169G>T (p.Glu3723Asp)
c.10869G>T (p.Glu3623Asp)
c.8133G>T (p.Glu2711Asp)
c.7026G>T (p.Glu2342Asp)
c.11052G>T (p.Glu3684Asp)
c.6804G>T (p.Glu2268Asp)
c.10032G>T (p.Glu3344Asp)
 gnomAD v4
8g.99861904G>ACA371790683VPS13Bc.*342G>A (n.*342G>A)
n.11318G>A
c.*6930G>A (n.*6930G>A)
c.11173G>A (p.Gly3725Arg)
c.11248G>A (p.Gly3750Arg)
c.11245G>A (p.Gly3749Arg)
c.11170G>A (p.Gly3724Arg)
c.10870G>A (p.Gly3624Arg)
c.8134G>A (p.Gly2712Arg)
c.7027G>A (p.Gly2343Arg)
c.11053G>A (p.Gly3685Arg)
c.6805G>A (p.Gly2269Arg)
c.10033G>A (p.Gly3345Arg)
8g.99861904G>CCA371790684VPS13Bc.*342G>C (n.*342G>C)
n.11318G>C
c.*6930G>C (n.*6930G>C)
c.11173G>C (p.Gly3725Arg)
c.11248G>C (p.Gly3750Arg)
c.11245G>C (p.Gly3749Arg)
c.11170G>C (p.Gly3724Arg)
c.10870G>C (p.Gly3624Arg)
c.8134G>C (p.Gly2712Arg)
c.7027G>C (p.Gly2343Arg)
c.11053G>C (p.Gly3685Arg)
c.6805G>C (p.Gly2269Arg)
c.10033G>C (p.Gly3345Arg)
8g.99861904G>TCA371790685VPS13Bc.*342G>T (n.*342G>T)
n.11318G>T
c.*6930G>T (n.*6930G>T)
c.11173G>T (p.Gly3725Trp)
c.11248G>T (p.Gly3750Trp)
c.11245G>T (p.Gly3749Trp)
c.11170G>T (p.Gly3724Trp)
c.10870G>T (p.Gly3624Trp)
c.8134G>T (p.Gly2712Trp)
c.7027G>T (p.Gly2343Trp)
c.11053G>T (p.Gly3685Trp)
c.6805G>T (p.Gly2269Trp)
c.10033G>T (p.Gly3345Trp)
8g.99861905G>ACA371790686VPS13Bc.*343G>A (n.*343G>A)
n.11319G>A
c.*6931G>A (n.*6931G>A)
c.11174G>A (p.Gly3725Glu)
c.11249G>A (p.Gly3750Glu)
c.11246G>A (p.Gly3749Glu)
c.11171G>A (p.Gly3724Glu)
c.10871G>A (p.Gly3624Glu)
c.8135G>A (p.Gly2712Glu)
c.7028G>A (p.Gly2343Glu)
c.11054G>A (p.Gly3685Glu)
c.6806G>A (p.Gly2269Glu)
c.10034G>A (p.Gly3345Glu)
8g.99861905G>CCA371790688VPS13Bc.*343G>C (n.*343G>C)
n.11319G>C
c.*6931G>C (n.*6931G>C)
c.11174G>C (p.Gly3725Ala)
c.11249G>C (p.Gly3750Ala)
c.11246G>C (p.Gly3749Ala)
c.11171G>C (p.Gly3724Ala)
c.10871G>C (p.Gly3624Ala)
c.8135G>C (p.Gly2712Ala)
c.7028G>C (p.Gly2343Ala)
c.11054G>C (p.Gly3685Ala)
c.6806G>C (p.Gly2269Ala)
c.10034G>C (p.Gly3345Ala)
8g.99861905G>TCA371790687VPS13Bc.*343G>T (n.*343G>T)
n.11319G>T
c.*6931G>T (n.*6931G>T)
c.11174G>T (p.Gly3725Val)
c.11249G>T (p.Gly3750Val)
c.11246G>T (p.Gly3749Val)
c.11171G>T (p.Gly3724Val)
c.10871G>T (p.Gly3624Val)
c.8135G>T (p.Gly2712Val)
c.7028G>T (p.Gly2343Val)
c.11054G>T (p.Gly3685Val)
c.6806G>T (p.Gly2269Val)
c.10034G>T (p.Gly3345Val)
8g.99861906G>ACA462338419VPS13Bc.*344G>A (n.*344G>A)
n.11320G>A
c.*6932G>A (n.*6932G>A)
c.11175G>A (p.Gly3725=)
c.11250G>A (p.Gly3750=)
c.11247G>A (p.Gly3749=)
c.11172G>A (p.Gly3724=)
c.10872G>A (p.Gly3624=)
c.8136G>A (p.Gly2712=)
c.7029G>A (p.Gly2343=)
c.11055G>A (p.Gly3685=)
c.6807G>A (p.Gly2269=)
c.10035G>A (p.Gly3345=)
 ClinVar dbSNP gnomAD v2
8g.99861906G>CCA462338417VPS13Bc.*344G>C (n.*344G>C)
n.11320G>C
c.*6932G>C (n.*6932G>C)
c.11175G>C (p.Gly3725=)
c.11250G>C (p.Gly3750=)
c.11247G>C (p.Gly3749=)
c.11172G>C (p.Gly3724=)
c.10872G>C (p.Gly3624=)
c.8136G>C (p.Gly2712=)
c.7029G>C (p.Gly2343=)
c.11055G>C (p.Gly3685=)
c.6807G>C (p.Gly2269=)
c.10035G>C (p.Gly3345=)
8g.99861906G>TCA4825159VPS13Bc.*344G>T (n.*344G>T)
n.11320G>T
c.*6932G>T (n.*6932G>T)
c.11175G>T (p.Gly3725=)
c.11250G>T (p.Gly3750=)
c.11247G>T (p.Gly3749=)
c.11172G>T (p.Gly3724=)
c.10872G>T (p.Gly3624=)
c.8136G>T (p.Gly2712=)
c.7029G>T (p.Gly2343=)
c.11055G>T (p.Gly3685=)
c.6807G>T (p.Gly2269=)
c.10035G>T (p.Gly3345=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99861907C>ACA371790689VPS13Bc.*345C>A (n.*345C>A)
n.11321C>A
c.*6933C>A (n.*6933C>A)
c.11176C>A (p.Leu3726Ile)
c.11251C>A (p.Leu3751Ile)
c.11248C>A (p.Leu3750Ile)
c.11173C>A (p.Leu3725Ile)
c.10873C>A (p.Leu3625Ile)
c.8137C>A (p.Leu2713Ile)
c.7030C>A (p.Leu2344Ile)
c.11056C>A (p.Leu3686Ile)
c.6808C>A (p.Leu2270Ile)
c.10036C>A (p.Leu3346Ile)
 dbSNP gnomAD v2
8g.99861907C>GCA371790690VPS13Bc.*345C>G (n.*345C>G)
n.11321C>G
c.*6933C>G (n.*6933C>G)
c.11176C>G (p.Leu3726Val)
c.11251C>G (p.Leu3751Val)
c.11248C>G (p.Leu3750Val)
c.11173C>G (p.Leu3725Val)
c.10873C>G (p.Leu3625Val)
c.8137C>G (p.Leu2713Val)
c.7030C>G (p.Leu2344Val)
c.11056C>G (p.Leu3686Val)
c.6808C>G (p.Leu2270Val)
c.10036C>G (p.Leu3346Val)
8g.99861907C>TCA4825160VPS13Bc.*345C>T (n.*345C>T)
n.11321C>T
c.*6933C>T (n.*6933C>T)
c.11176C>T (p.Leu3726Phe)
c.11251C>T (p.Leu3751Phe)
c.11248C>T (p.Leu3750Phe)
c.11173C>T (p.Leu3725Phe)
c.10873C>T (p.Leu3625Phe)
c.8137C>T (p.Leu2713Phe)
c.7030C>T (p.Leu2344Phe)
c.11056C>T (p.Leu3686Phe)
c.6808C>T (p.Leu2270Phe)
c.10036C>T (p.Leu3346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861908T>ACA371790691VPS13Bc.*346T>A (n.*346T>A)
n.11322T>A
c.*6934T>A (n.*6934T>A)
c.11177T>A (p.Leu3726His)
c.11252T>A (p.Leu3751His)
c.11249T>A (p.Leu3750His)
c.11174T>A (p.Leu3725His)
c.10874T>A (p.Leu3625His)
c.8138T>A (p.Leu2713His)
c.7031T>A (p.Leu2344His)
c.11057T>A (p.Leu3686His)
c.6809T>A (p.Leu2270His)
c.10037T>A (p.Leu3346His)
8g.99861908T>CCA371790692VPS13Bc.*346T>C (n.*346T>C)
n.11322T>C
c.*6934T>C (n.*6934T>C)
c.11177T>C (p.Leu3726Pro)
c.11252T>C (p.Leu3751Pro)
c.11249T>C (p.Leu3750Pro)
c.11174T>C (p.Leu3725Pro)
c.10874T>C (p.Leu3625Pro)
c.8138T>C (p.Leu2713Pro)
c.7031T>C (p.Leu2344Pro)
c.11057T>C (p.Leu3686Pro)
c.6809T>C (p.Leu2270Pro)
c.10037T>C (p.Leu3346Pro)
8g.99861908T>GCA371790693VPS13Bc.*346T>G (n.*346T>G)
n.11322T>G
c.*6934T>G (n.*6934T>G)
c.11177T>G (p.Leu3726Arg)
c.11252T>G (p.Leu3751Arg)
c.11249T>G (p.Leu3750Arg)
c.11174T>G (p.Leu3725Arg)
c.10874T>G (p.Leu3625Arg)
c.8138T>G (p.Leu2713Arg)
c.7031T>G (p.Leu2344Arg)
c.11057T>G (p.Leu3686Arg)
c.6809T>G (p.Leu2270Arg)
c.10037T>G (p.Leu3346Arg)
8g.99861909T>ACA462338434VPS13Bc.*347T>A (n.*347T>A)
n.11323T>A
c.*6935T>A (n.*6935T>A)
c.11178T>A (p.Leu3726=)
c.11253T>A (p.Leu3751=)
c.11250T>A (p.Leu3750=)
c.11175T>A (p.Leu3725=)
c.10875T>A (p.Leu3625=)
c.8139T>A (p.Leu2713=)
c.7032T>A (p.Leu2344=)
c.11058T>A (p.Leu3686=)
c.6810T>A (p.Leu2270=)
c.10038T>A (p.Leu3346=)
8g.99861909T>CCA462338436VPS13Bc.*347T>C (n.*347T>C)
n.11323T>C
c.*6935T>C (n.*6935T>C)
c.11178T>C (p.Leu3726=)
c.11253T>C (p.Leu3751=)
c.11250T>C (p.Leu3750=)
c.11175T>C (p.Leu3725=)
c.10875T>C (p.Leu3625=)
c.8139T>C (p.Leu2713=)
c.7032T>C (p.Leu2344=)
c.11058T>C (p.Leu3686=)
c.6810T>C (p.Leu2270=)
c.10038T>C (p.Leu3346=)
8g.99861909T>GCA462338438VPS13Bc.*347T>G (n.*347T>G)
n.11323T>G
c.*6935T>G (n.*6935T>G)
c.11178T>G (p.Leu3726=)
c.11253T>G (p.Leu3751=)
c.11250T>G (p.Leu3750=)
c.11175T>G (p.Leu3725=)
c.10875T>G (p.Leu3625=)
c.8139T>G (p.Leu2713=)
c.7032T>G (p.Leu2344=)
c.11058T>G (p.Leu3686=)
c.6810T>G (p.Leu2270=)
c.10038T>G (p.Leu3346=)
8g.99861910C>ACA462338441VPS13Bc.*348C>A (n.*348C>A)
n.11324C>A
c.*6936C>A (n.*6936C>A)
c.11179C>A (p.Arg3727=)
c.11254C>A (p.Arg3752=)
c.11251C>A (p.Arg3751=)
c.11176C>A (p.Arg3726=)
c.10876C>A (p.Arg3626=)
c.8140C>A (p.Arg2714=)
c.7033C>A (p.Arg2345=)
c.11059C>A (p.Arg3687=)
c.6811C>A (p.Arg2271=)
c.10039C>A (p.Arg3347=)
 gnomAD v4
8g.99861910C>GCA371790694VPS13Bc.*348C>G (n.*348C>G)
n.11324C>G
c.*6936C>G (n.*6936C>G)
c.11179C>G (p.Arg3727Gly)
c.11254C>G (p.Arg3752Gly)
c.11251C>G (p.Arg3751Gly)
c.11176C>G (p.Arg3726Gly)
c.10876C>G (p.Arg3626Gly)
c.8140C>G (p.Arg2714Gly)
c.7033C>G (p.Arg2345Gly)
c.11059C>G (p.Arg3687Gly)
c.6811C>G (p.Arg2271Gly)
c.10039C>G (p.Arg3347Gly)
8g.99861910C>TCA371790695VPS13Bc.*348C>T (n.*348C>T)
n.11324C>T
c.*6936C>T (n.*6936C>T)
c.11179C>T (p.Arg3727Ter)
c.11254C>T (p.Arg3752Ter)
c.11251C>T (p.Arg3751Ter)
c.11176C>T (p.Arg3726Ter)
c.10876C>T (p.Arg3626Ter)
c.8140C>T (p.Arg2714Ter)
c.7033C>T (p.Arg2345Ter)
c.11059C>T (p.Arg3687Ter)
c.6811C>T (p.Arg2271Ter)
c.10039C>T (p.Arg3347Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99861911G>ACA182321626VPS13Bc.*349G>A (n.*349G>A)
n.11325G>A
c.*6937G>A (n.*6937G>A)
c.11180G>A (p.Arg3727Gln)
c.11255G>A (p.Arg3752Gln)
c.11252G>A (p.Arg3751Gln)
c.11177G>A (p.Arg3726Gln)
c.10877G>A (p.Arg3626Gln)
c.8141G>A (p.Arg2714Gln)
c.7034G>A (p.Arg2345Gln)
c.11060G>A (p.Arg3687Gln)
c.6812G>A (p.Arg2271Gln)
c.10040G>A (p.Arg3347Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99861911G>CCA371790696VPS13Bc.*349G>C (n.*349G>C)
n.11325G>C
c.*6937G>C (n.*6937G>C)
c.11180G>C (p.Arg3727Pro)
c.11255G>C (p.Arg3752Pro)
c.11252G>C (p.Arg3751Pro)
c.11177G>C (p.Arg3726Pro)
c.10877G>C (p.Arg3626Pro)
c.8141G>C (p.Arg2714Pro)
c.7034G>C (p.Arg2345Pro)
c.11060G>C (p.Arg3687Pro)
c.6812G>C (p.Arg2271Pro)
c.10040G>C (p.Arg3347Pro)
8g.99861911G>TCA371790697VPS13Bc.*349G>T (n.*349G>T)
n.11325G>T
c.*6937G>T (n.*6937G>T)
c.11180G>T (p.Arg3727Leu)
c.11255G>T (p.Arg3752Leu)
c.11252G>T (p.Arg3751Leu)
c.11177G>T (p.Arg3726Leu)
c.10877G>T (p.Arg3626Leu)
c.8141G>T (p.Arg2714Leu)
c.7034G>T (p.Arg2345Leu)
c.11060G>T (p.Arg3687Leu)
c.6812G>T (p.Arg2271Leu)
c.10040G>T (p.Arg3347Leu)
 gnomAD v4
8g.99861912_99861916delCA2688072163VPS13Bc.*350_*354del (n.*350_*354del)
n.11326_11330del
c.*6938_*6942del (n.*6938_*6942del)
c.11181_11185del (p.Gln3728ProfsTer17)
c.11256_11260del (p.Gln3753ProfsTer17)
c.11253_11257del (p.Gln3752ProfsTer17)
c.11178_11182del (p.Gln3727ProfsTer17)
c.10878_10882del (p.Gln3627ProfsTer17)
c.8142_8146del (p.Gln2715ProfsTer17)
c.7035_7039del (p.Gln2346ProfsTer17)
c.11061_11065del (p.Gln3688ProfsTer17)
c.6813_6817del (p.Gln2272ProfsTer17)
c.10041_10045del (p.Gln3348ProfsTer17)
 gnomAD v4
8g.99861912A=CA2580832419VPS13Bc.*350A= (n.*350A=)
n.11326A=
c.*6938A= (n.*6938A=)
c.11181A= (p.Arg3727=)
c.11256A= (p.Arg3752=)
c.11253A= (p.Arg3751=)
c.11178A= (p.Arg3726=)
c.10878A= (p.Arg3626=)
c.8142A= (p.Arg2714=)
c.7035A= (p.Arg2345=)
c.11061A= (p.Arg3687=)
c.6813A= (p.Arg2271=)
c.10041A= (p.Arg3347=)
8g.99861912A>CCA462338455VPS13Bc.*350A>C (n.*350A>C)
n.11326A>C
c.*6938A>C (n.*6938A>C)
c.11181A>C (p.Arg3727=)
c.11256A>C (p.Arg3752=)
c.11253A>C (p.Arg3751=)
c.11178A>C (p.Arg3726=)
c.10878A>C (p.Arg3626=)
c.8142A>C (p.Arg2714=)
c.7035A>C (p.Arg2345=)
c.11061A>C (p.Arg3687=)
c.6813A>C (p.Arg2271=)
c.10041A>C (p.Arg3347=)
8g.99861912A>GCA4825161VPS13Bc.*350A>G (n.*350A>G)
n.11326A>G
c.*6938A>G (n.*6938A>G)
c.11181A>G (p.Arg3727=)
c.11256A>G (p.Arg3752=)
c.11253A>G (p.Arg3751=)
c.11178A>G (p.Arg3726=)
c.10878A>G (p.Arg3626=)
c.8142A>G (p.Arg2714=)
c.7035A>G (p.Arg2345=)
c.11061A>G (p.Arg3687=)
c.6813A>G (p.Arg2271=)
c.10041A>G (p.Arg3347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99861912A>TCA462338458VPS13Bc.*350A>T (n.*350A>T)
n.11326A>T
c.*6938A>T (n.*6938A>T)
c.11181A>T (p.Arg3727=)
c.11256A>T (p.Arg3752=)
c.11253A>T (p.Arg3751=)
c.11178A>T (p.Arg3726=)
c.10878A>T (p.Arg3626=)
c.8142A>T (p.Arg2714=)
c.7035A>T (p.Arg2345=)
c.11061A>T (p.Arg3687=)
c.6813A>T (p.Arg2271=)
c.10041A>T (p.Arg3347=)
8g.99861912_99861956delCA857605273VPS13Bc.*350_*384+10del
n.11326_11360+10del
c.*6938_*6972+10del
c.11181_11215+10del
c.11256_11290+10del
c.11253_11287+10del
c.11178_11212+10del
c.10878_10912+10del
c.8142_8176+10del
c.7035_7069+10del
c.11061_11095+10del
c.6813_6847+10del
c.10041_10075+10del
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched