Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99868390G>ACA4825208VPS13Bc.*486G>A (n.*486G>A)
n.11462G>A
c.*7074G>A (n.*7074G>A)
c.11317G>A (p.Val3773Met)
c.11392G>A (p.Val3798Met)
n.334G>A
c.11389G>A (p.Val3797Met)
c.11314G>A (p.Val3772Met)
c.11014G>A (p.Val3672Met)
c.8278G>A (p.Val2760Met)
c.7171G>A (p.Val2391Met)
c.11197G>A (p.Val3733Met)
c.6949G>A (p.Val2317Met)
c.10177G>A (p.Val3393Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868390G>CCA371792110VPS13Bc.*486G>C (n.*486G>C)
n.11462G>C
c.*7074G>C (n.*7074G>C)
c.11317G>C (p.Val3773Leu)
c.11392G>C (p.Val3798Leu)
n.334G>C
c.11389G>C (p.Val3797Leu)
c.11314G>C (p.Val3772Leu)
c.11014G>C (p.Val3672Leu)
c.8278G>C (p.Val2760Leu)
c.7171G>C (p.Val2391Leu)
c.11197G>C (p.Val3733Leu)
c.6949G>C (p.Val2317Leu)
c.10177G>C (p.Val3393Leu)
8g.99868390G>TCA371792111VPS13Bc.*486G>T (n.*486G>T)
n.11462G>T
c.*7074G>T (n.*7074G>T)
c.11317G>T (p.Val3773Leu)
c.11392G>T (p.Val3798Leu)
n.334G>T
c.11389G>T (p.Val3797Leu)
c.11314G>T (p.Val3772Leu)
c.11014G>T (p.Val3672Leu)
c.8278G>T (p.Val2760Leu)
c.7171G>T (p.Val2391Leu)
c.11197G>T (p.Val3733Leu)
c.6949G>T (p.Val2317Leu)
c.10177G>T (p.Val3393Leu)
8g.99868391T>ACA371792114VPS13Bc.*487T>A (n.*487T>A)
n.11463T>A
c.*7075T>A (n.*7075T>A)
c.11318T>A (p.Val3773Glu)
c.11393T>A (p.Val3798Glu)
n.335T>A
c.11390T>A (p.Val3797Glu)
c.11315T>A (p.Val3772Glu)
c.11015T>A (p.Val3672Glu)
c.8279T>A (p.Val2760Glu)
c.7172T>A (p.Val2391Glu)
c.11198T>A (p.Val3733Glu)
c.6950T>A (p.Val2317Glu)
c.10178T>A (p.Val3393Glu)
8g.99868391T>CCA4825209VPS13Bc.*487T>C (n.*487T>C)
n.11463T>C
c.*7075T>C (n.*7075T>C)
c.11318T>C (p.Val3773Ala)
c.11393T>C (p.Val3798Ala)
n.335T>C
c.11390T>C (p.Val3797Ala)
c.11315T>C (p.Val3772Ala)
c.11015T>C (p.Val3672Ala)
c.8279T>C (p.Val2760Ala)
c.7172T>C (p.Val2391Ala)
c.11198T>C (p.Val3733Ala)
c.6950T>C (p.Val2317Ala)
c.10178T>C (p.Val3393Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99868391T>GCA371792117VPS13Bc.*487T>G (n.*487T>G)
n.11463T>G
c.*7075T>G (n.*7075T>G)
c.11318T>G (p.Val3773Gly)
c.11393T>G (p.Val3798Gly)
n.335T>G
c.11390T>G (p.Val3797Gly)
c.11315T>G (p.Val3772Gly)
c.11015T>G (p.Val3672Gly)
c.8279T>G (p.Val2760Gly)
c.7172T>G (p.Val2391Gly)
c.11198T>G (p.Val3733Gly)
c.6950T>G (p.Val2317Gly)
c.10178T>G (p.Val3393Gly)
8g.99868392G>ACA462339323VPS13Bc.*488G>A (n.*488G>A)
n.11464G>A
c.*7076G>A (n.*7076G>A)
c.11319G>A (p.Val3773=)
c.11394G>A (p.Val3798=)
n.336G>A
c.11391G>A (p.Val3797=)
c.11316G>A (p.Val3772=)
c.11016G>A (p.Val3672=)
c.8280G>A (p.Val2760=)
c.7173G>A (p.Val2391=)
c.11199G>A (p.Val3733=)
c.6951G>A (p.Val2317=)
c.10179G>A (p.Val3393=)
 ClinVar
8g.99868392G>CCA462339324VPS13Bc.*488G>C (n.*488G>C)
n.11464G>C
c.*7076G>C (n.*7076G>C)
c.11319G>C (p.Val3773=)
c.11394G>C (p.Val3798=)
n.336G>C
c.11391G>C (p.Val3797=)
c.11316G>C (p.Val3772=)
c.11016G>C (p.Val3672=)
c.8280G>C (p.Val2760=)
c.7173G>C (p.Val2391=)
c.11199G>C (p.Val3733=)
c.6951G>C (p.Val2317=)
c.10179G>C (p.Val3393=)
8g.99868392G>TCA462339325VPS13Bc.*488G>T (n.*488G>T)
n.11464G>T
c.*7076G>T (n.*7076G>T)
c.11319G>T (p.Val3773=)
c.11394G>T (p.Val3798=)
n.336G>T
c.11391G>T (p.Val3797=)
c.11316G>T (p.Val3772=)
c.11016G>T (p.Val3672=)
c.8280G>T (p.Val2760=)
c.7173G>T (p.Val2391=)
c.11199G>T (p.Val3733=)
c.6951G>T (p.Val2317=)
c.10179G>T (p.Val3393=)
8g.99868393G>ACA371792120VPS13Bc.*489G>A (n.*489G>A)
n.11465G>A
c.*7077G>A (n.*7077G>A)
c.11320G>A (p.Gly3774Arg)
c.11395G>A (p.Gly3799Arg)
n.337G>A
c.11392G>A (p.Gly3798Arg)
c.11317G>A (p.Gly3773Arg)
c.11017G>A (p.Gly3673Arg)
c.8281G>A (p.Gly2761Arg)
c.7174G>A (p.Gly2392Arg)
c.11200G>A (p.Gly3734Arg)
c.6952G>A (p.Gly2318Arg)
c.10180G>A (p.Gly3394Arg)
8g.99868393G>CCA371792123VPS13Bc.*489G>C (n.*489G>C)
n.11465G>C
c.*7077G>C (n.*7077G>C)
c.11320G>C (p.Gly3774Arg)
c.11395G>C (p.Gly3799Arg)
n.337G>C
c.11392G>C (p.Gly3798Arg)
c.11317G>C (p.Gly3773Arg)
c.11017G>C (p.Gly3673Arg)
c.8281G>C (p.Gly2761Arg)
c.7174G>C (p.Gly2392Arg)
c.11200G>C (p.Gly3734Arg)
c.6952G>C (p.Gly2318Arg)
c.10180G>C (p.Gly3394Arg)
8g.99868393G>TCA371792126VPS13Bc.*489G>T (n.*489G>T)
n.11465G>T
c.*7077G>T (n.*7077G>T)
c.11320G>T (p.Gly3774Trp)
c.11395G>T (p.Gly3799Trp)
n.337G>T
c.11392G>T (p.Gly3798Trp)
c.11317G>T (p.Gly3773Trp)
c.11017G>T (p.Gly3673Trp)
c.8281G>T (p.Gly2761Trp)
c.7174G>T (p.Gly2392Trp)
c.11200G>T (p.Gly3734Trp)
c.6952G>T (p.Gly2318Trp)
c.10180G>T (p.Gly3394Trp)
8g.99868394G>ACA371792130VPS13Bc.*490G>A (n.*490G>A)
n.11466G>A
c.*7078G>A (n.*7078G>A)
c.11321G>A (p.Gly3774Glu)
c.11396G>A (p.Gly3799Glu)
n.338G>A
c.11393G>A (p.Gly3798Glu)
c.11318G>A (p.Gly3773Glu)
c.11018G>A (p.Gly3673Glu)
c.8282G>A (p.Gly2761Glu)
c.7175G>A (p.Gly2392Glu)
c.11201G>A (p.Gly3734Glu)
c.6953G>A (p.Gly2318Glu)
c.10181G>A (p.Gly3394Glu)
 gnomAD v4
8g.99868394G>CCA371792133VPS13Bc.*490G>C (n.*490G>C)
n.11466G>C
c.*7078G>C (n.*7078G>C)
c.11321G>C (p.Gly3774Ala)
c.11396G>C (p.Gly3799Ala)
n.338G>C
c.11393G>C (p.Gly3798Ala)
c.11318G>C (p.Gly3773Ala)
c.11018G>C (p.Gly3673Ala)
c.8282G>C (p.Gly2761Ala)
c.7175G>C (p.Gly2392Ala)
c.11201G>C (p.Gly3734Ala)
c.6953G>C (p.Gly2318Ala)
c.10181G>C (p.Gly3394Ala)
8g.99868394G>TCA371792135VPS13Bc.*490G>T (n.*490G>T)
n.11466G>T
c.*7078G>T (n.*7078G>T)
c.11321G>T (p.Gly3774Val)
c.11396G>T (p.Gly3799Val)
n.338G>T
c.11393G>T (p.Gly3798Val)
c.11318G>T (p.Gly3773Val)
c.11018G>T (p.Gly3673Val)
c.8282G>T (p.Gly2761Val)
c.7175G>T (p.Gly2392Val)
c.11201G>T (p.Gly3734Val)
c.6953G>T (p.Gly2318Val)
c.10181G>T (p.Gly3394Val)
8g.99868395G>ACA462339329VPS13Bc.*491G>A (n.*491G>A)
n.11467G>A
c.*7079G>A (n.*7079G>A)
c.11322G>A (p.Gly3774=)
c.11397G>A (p.Gly3799=)
n.339G>A
c.11394G>A (p.Gly3798=)
c.11319G>A (p.Gly3773=)
c.11019G>A (p.Gly3673=)
c.8283G>A (p.Gly2761=)
c.7176G>A (p.Gly2392=)
c.11202G>A (p.Gly3734=)
c.6954G>A (p.Gly2318=)
c.10182G>A (p.Gly3394=)
 ClinVar dbSNP
8g.99868395G>CCA462339332VPS13Bc.*491G>C (n.*491G>C)
n.11467G>C
c.*7079G>C (n.*7079G>C)
c.11322G>C (p.Gly3774=)
c.11397G>C (p.Gly3799=)
n.339G>C
c.11394G>C (p.Gly3798=)
c.11319G>C (p.Gly3773=)
c.11019G>C (p.Gly3673=)
c.8283G>C (p.Gly2761=)
c.7176G>C (p.Gly2392=)
c.11202G>C (p.Gly3734=)
c.6954G>C (p.Gly2318=)
c.10182G>C (p.Gly3394=)
8g.99868395G>TCA462339327VPS13Bc.*491G>T (n.*491G>T)
n.11467G>T
c.*7079G>T (n.*7079G>T)
c.11322G>T (p.Gly3774=)
c.11397G>T (p.Gly3799=)
n.339G>T
c.11394G>T (p.Gly3798=)
c.11319G>T (p.Gly3773=)
c.11019G>T (p.Gly3673=)
c.8283G>T (p.Gly2761=)
c.7176G>T (p.Gly2392=)
c.11202G>T (p.Gly3734=)
c.6954G>T (p.Gly2318=)
c.10182G>T (p.Gly3394=)
 gnomAD v4
8g.99868396A>CCA371792139VPS13Bc.*492A>C (n.*492A>C)
n.11468A>C
c.*7080A>C (n.*7080A>C)
c.11323A>C (p.Lys3775Gln)
c.11398A>C (p.Lys3800Gln)
n.340A>C
c.11395A>C (p.Lys3799Gln)
c.11320A>C (p.Lys3774Gln)
c.11020A>C (p.Lys3674Gln)
c.8284A>C (p.Lys2762Gln)
c.7177A>C (p.Lys2393Gln)
c.11203A>C (p.Lys3735Gln)
c.6955A>C (p.Lys2319Gln)
c.10183A>C (p.Lys3395Gln)
8g.99868396A>GCA371792140VPS13Bc.*492A>G (n.*492A>G)
n.11468A>G
c.*7080A>G (n.*7080A>G)
c.11323A>G (p.Lys3775Glu)
c.11398A>G (p.Lys3800Glu)
n.340A>G
c.11395A>G (p.Lys3799Glu)
c.11320A>G (p.Lys3774Glu)
c.11020A>G (p.Lys3674Glu)
c.8284A>G (p.Lys2762Glu)
c.7177A>G (p.Lys2393Glu)
c.11203A>G (p.Lys3735Glu)
c.6955A>G (p.Lys2319Glu)
c.10183A>G (p.Lys3395Glu)
8g.99868396A>TCA371792141VPS13Bc.*492A>T (n.*492A>T)
n.11468A>T
c.*7080A>T (n.*7080A>T)
c.11323A>T (p.Lys3775Ter)
c.11398A>T (p.Lys3800Ter)
n.340A>T
c.11395A>T (p.Lys3799Ter)
c.11320A>T (p.Lys3774Ter)
c.11020A>T (p.Lys3674Ter)
c.8284A>T (p.Lys2762Ter)
c.7177A>T (p.Lys2393Ter)
c.11203A>T (p.Lys3735Ter)
c.6955A>T (p.Lys2319Ter)
c.10183A>T (p.Lys3395Ter)
8g.99868397A>CCA371792144VPS13Bc.*493A>C (n.*493A>C)
n.11469A>C
c.*7081A>C (n.*7081A>C)
c.11324A>C (p.Lys3775Thr)
c.11399A>C (p.Lys3800Thr)
n.341A>C
c.11396A>C (p.Lys3799Thr)
c.11321A>C (p.Lys3774Thr)
c.11021A>C (p.Lys3674Thr)
c.8285A>C (p.Lys2762Thr)
c.7178A>C (p.Lys2393Thr)
c.11204A>C (p.Lys3735Thr)
c.6956A>C (p.Lys2319Thr)
c.10184A>C (p.Lys3395Thr)
8g.99868397A>GCA371792145VPS13Bc.*493A>G (n.*493A>G)
n.11469A>G
c.*7081A>G (n.*7081A>G)
c.11324A>G (p.Lys3775Arg)
c.11399A>G (p.Lys3800Arg)
n.341A>G
c.11396A>G (p.Lys3799Arg)
c.11321A>G (p.Lys3774Arg)
c.11021A>G (p.Lys3674Arg)
c.8285A>G (p.Lys2762Arg)
c.7178A>G (p.Lys2393Arg)
c.11204A>G (p.Lys3735Arg)
c.6956A>G (p.Lys2319Arg)
c.10184A>G (p.Lys3395Arg)
 gnomAD v4
8g.99868397A>TCA371792142VPS13Bc.*493A>T (n.*493A>T)
n.11469A>T
c.*7081A>T (n.*7081A>T)
c.11324A>T (p.Lys3775Ile)
c.11399A>T (p.Lys3800Ile)
n.341A>T
c.11396A>T (p.Lys3799Ile)
c.11321A>T (p.Lys3774Ile)
c.11021A>T (p.Lys3674Ile)
c.8285A>T (p.Lys2762Ile)
c.7178A>T (p.Lys2393Ile)
c.11204A>T (p.Lys3735Ile)
c.6956A>T (p.Lys2319Ile)
c.10184A>T (p.Lys3395Ile)
8g.99868398A>CCA371792147VPS13Bc.*494A>C (n.*494A>C)
n.11470A>C
c.*7082A>C (n.*7082A>C)
c.11325A>C (p.Lys3775Asn)
c.11400A>C (p.Lys3800Asn)
n.342A>C
c.11397A>C (p.Lys3799Asn)
c.11322A>C (p.Lys3774Asn)
c.11022A>C (p.Lys3674Asn)
c.8286A>C (p.Lys2762Asn)
c.7179A>C (p.Lys2393Asn)
c.11205A>C (p.Lys3735Asn)
c.6957A>C (p.Lys2319Asn)
c.10185A>C (p.Lys3395Asn)
8g.99868398A>GCA462339334VPS13Bc.*494A>G (n.*494A>G)
n.11470A>G
c.*7082A>G (n.*7082A>G)
c.11325A>G (p.Lys3775=)
c.11400A>G (p.Lys3800=)
n.342A>G
c.11397A>G (p.Lys3799=)
c.11322A>G (p.Lys3774=)
c.11022A>G (p.Lys3674=)
c.8286A>G (p.Lys2762=)
c.7179A>G (p.Lys2393=)
c.11205A>G (p.Lys3735=)
c.6957A>G (p.Lys2319=)
c.10185A>G (p.Lys3395=)
 ClinVar dbSNP gnomAD v4
8g.99868398A>TCA371792146VPS13Bc.*494A>T (n.*494A>T)
n.11470A>T
c.*7082A>T (n.*7082A>T)
c.11325A>T (p.Lys3775Asn)
c.11400A>T (p.Lys3800Asn)
n.342A>T
c.11397A>T (p.Lys3799Asn)
c.11322A>T (p.Lys3774Asn)
c.11022A>T (p.Lys3674Asn)
c.8286A>T (p.Lys2762Asn)
c.7179A>T (p.Lys2393Asn)
c.11205A>T (p.Lys3735Asn)
c.6957A>T (p.Lys2319Asn)
c.10185A>T (p.Lys3395Asn)
8g.99868399G>ACA371792150VPS13Bc.*495G>A (n.*495G>A)
n.11471G>A
c.*7083G>A (n.*7083G>A)
c.11326G>A (p.Gly3776Arg)
c.11401G>A (p.Gly3801Arg)
n.343G>A
c.11398G>A (p.Gly3800Arg)
c.11323G>A (p.Gly3775Arg)
c.11023G>A (p.Gly3675Arg)
c.8287G>A (p.Gly2763Arg)
c.7180G>A (p.Gly2394Arg)
c.11206G>A (p.Gly3736Arg)
c.6958G>A (p.Gly2320Arg)
c.10186G>A (p.Gly3396Arg)
 gnomAD v4
8g.99868399G>CCA371792148VPS13Bc.*495G>C (n.*495G>C)
n.11471G>C
c.*7083G>C (n.*7083G>C)
c.11326G>C (p.Gly3776Arg)
c.11401G>C (p.Gly3801Arg)
n.343G>C
c.11398G>C (p.Gly3800Arg)
c.11323G>C (p.Gly3775Arg)
c.11023G>C (p.Gly3675Arg)
c.8287G>C (p.Gly2763Arg)
c.7180G>C (p.Gly2394Arg)
c.11206G>C (p.Gly3736Arg)
c.6958G>C (p.Gly2320Arg)
c.10186G>C (p.Gly3396Arg)
8g.99868399G>TCA371792149VPS13Bc.*495G>T (n.*495G>T)
n.11471G>T
c.*7083G>T (n.*7083G>T)
c.11326G>T (p.Gly3776Ter)
c.11401G>T (p.Gly3801Ter)
n.343G>T
c.11398G>T (p.Gly3800Ter)
c.11323G>T (p.Gly3775Ter)
c.11023G>T (p.Gly3675Ter)
c.8287G>T (p.Gly2763Ter)
c.7180G>T (p.Gly2394Ter)
c.11206G>T (p.Gly3736Ter)
c.6958G>T (p.Gly2320Ter)
c.10186G>T (p.Gly3396Ter)
8g.99868400G>ACA371792151VPS13Bc.*496G>A (n.*496G>A)
n.11472G>A
c.*7084G>A (n.*7084G>A)
c.11327G>A (p.Gly3776Glu)
c.11402G>A (p.Gly3801Glu)
n.344G>A
c.11399G>A (p.Gly3800Glu)
c.11324G>A (p.Gly3775Glu)
c.11024G>A (p.Gly3675Glu)
c.8288G>A (p.Gly2763Glu)
c.7181G>A (p.Gly2394Glu)
c.11207G>A (p.Gly3736Glu)
c.6959G>A (p.Gly2320Glu)
c.10187G>A (p.Gly3396Glu)
 ClinVar
8g.99868400G>CCA371792154VPS13Bc.*496G>C (n.*496G>C)
n.11472G>C
c.*7084G>C (n.*7084G>C)
c.11327G>C (p.Gly3776Ala)
c.11402G>C (p.Gly3801Ala)
n.344G>C
c.11399G>C (p.Gly3800Ala)
c.11324G>C (p.Gly3775Ala)
c.11024G>C (p.Gly3675Ala)
c.8288G>C (p.Gly2763Ala)
c.7181G>C (p.Gly2394Ala)
c.11207G>C (p.Gly3736Ala)
c.6959G>C (p.Gly2320Ala)
c.10187G>C (p.Gly3396Ala)
 gnomAD v4
8g.99868400G>TCA371792157VPS13Bc.*496G>T (n.*496G>T)
n.11472G>T
c.*7084G>T (n.*7084G>T)
c.11327G>T (p.Gly3776Val)
c.11402G>T (p.Gly3801Val)
n.344G>T
c.11399G>T (p.Gly3800Val)
c.11324G>T (p.Gly3775Val)
c.11024G>T (p.Gly3675Val)
c.8288G>T (p.Gly2763Val)
c.7181G>T (p.Gly2394Val)
c.11207G>T (p.Gly3736Val)
c.6959G>T (p.Gly2320Val)
c.10187G>T (p.Gly3396Val)
 gnomAD v4
8g.99868401A>CCA462339339VPS13Bc.*497A>C (n.*497A>C)
n.11473A>C
c.*7085A>C (n.*7085A>C)
c.11328A>C (p.Gly3776=)
c.11403A>C (p.Gly3801=)
n.345A>C
c.11400A>C (p.Gly3800=)
c.11325A>C (p.Gly3775=)
c.11025A>C (p.Gly3675=)
c.8289A>C (p.Gly2763=)
c.7182A>C (p.Gly2394=)
c.11208A>C (p.Gly3736=)
c.6960A>C (p.Gly2320=)
c.10188A>C (p.Gly3396=)
 gnomAD v4
8g.99868401A>GCA462339337VPS13Bc.*497A>G (n.*497A>G)
n.11473A>G
c.*7085A>G (n.*7085A>G)
c.11328A>G (p.Gly3776=)
c.11403A>G (p.Gly3801=)
n.345A>G
c.11400A>G (p.Gly3800=)
c.11325A>G (p.Gly3775=)
c.11025A>G (p.Gly3675=)
c.8289A>G (p.Gly2763=)
c.7182A>G (p.Gly2394=)
c.11208A>G (p.Gly3736=)
c.6960A>G (p.Gly2320=)
c.10188A>G (p.Gly3396=)
8g.99868401A>TCA462339335VPS13Bc.*497A>T (n.*497A>T)
n.11473A>T
c.*7085A>T (n.*7085A>T)
c.11328A>T (p.Gly3776=)
c.11403A>T (p.Gly3801=)
n.345A>T
c.11400A>T (p.Gly3800=)
c.11325A>T (p.Gly3775=)
c.11025A>T (p.Gly3675=)
c.8289A>T (p.Gly2763=)
c.7182A>T (p.Gly2394=)
c.11208A>T (p.Gly3736=)
c.6960A>T (p.Gly2320=)
c.10188A>T (p.Gly3396=)
8g.99868402A>CCA371792158VPS13Bc.*498A>C (n.*498A>C)
n.11474A>C
c.*7086A>C (n.*7086A>C)
c.11329A>C (p.Ile3777Leu)
c.11404A>C (p.Ile3802Leu)
n.346A>C
c.11401A>C (p.Ile3801Leu)
c.11326A>C (p.Ile3776Leu)
c.11026A>C (p.Ile3676Leu)
c.8290A>C (p.Ile2764Leu)
c.7183A>C (p.Ile2395Leu)
c.11209A>C (p.Ile3737Leu)
c.6961A>C (p.Ile2321Leu)
c.10189A>C (p.Ile3397Leu)
8g.99868402A>GCA371792159VPS13Bc.*498A>G (n.*498A>G)
n.11474A>G
c.*7086A>G (n.*7086A>G)
c.11329A>G (p.Ile3777Val)
c.11404A>G (p.Ile3802Val)
n.346A>G
c.11401A>G (p.Ile3801Val)
c.11326A>G (p.Ile3776Val)
c.11026A>G (p.Ile3676Val)
c.8290A>G (p.Ile2764Val)
c.7183A>G (p.Ile2395Val)
c.11209A>G (p.Ile3737Val)
c.6961A>G (p.Ile2321Val)
c.10189A>G (p.Ile3397Val)
8g.99868402A>TCA371792160VPS13Bc.*498A>T (n.*498A>T)
n.11474A>T
c.*7086A>T (n.*7086A>T)
c.11329A>T (p.Ile3777Phe)
c.11404A>T (p.Ile3802Phe)
n.346A>T
c.11401A>T (p.Ile3801Phe)
c.11326A>T (p.Ile3776Phe)
c.11026A>T (p.Ile3676Phe)
c.8290A>T (p.Ile2764Phe)
c.7183A>T (p.Ile2395Phe)
c.11209A>T (p.Ile3737Phe)
c.6961A>T (p.Ile2321Phe)
c.10189A>T (p.Ile3397Phe)
 gnomAD v4
8g.99868403T>ACA371792161VPS13Bc.*499T>A (n.*499T>A)
n.11475T>A
c.*7087T>A (n.*7087T>A)
c.11330T>A (p.Ile3777Asn)
c.11405T>A (p.Ile3802Asn)
n.347T>A
c.11402T>A (p.Ile3801Asn)
c.11327T>A (p.Ile3776Asn)
c.11027T>A (p.Ile3676Asn)
c.8291T>A (p.Ile2764Asn)
c.7184T>A (p.Ile2395Asn)
c.11210T>A (p.Ile3737Asn)
c.6962T>A (p.Ile2321Asn)
c.10190T>A (p.Ile3397Asn)
8g.99868403T>CCA371792164VPS13Bc.*499T>C (n.*499T>C)
n.11475T>C
c.*7087T>C (n.*7087T>C)
c.11330T>C (p.Ile3777Thr)
c.11405T>C (p.Ile3802Thr)
n.347T>C
c.11402T>C (p.Ile3801Thr)
c.11327T>C (p.Ile3776Thr)
c.11027T>C (p.Ile3676Thr)
c.8291T>C (p.Ile2764Thr)
c.7184T>C (p.Ile2395Thr)
c.11210T>C (p.Ile3737Thr)
c.6962T>C (p.Ile2321Thr)
c.10190T>C (p.Ile3397Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.99868403T>GCA371792162VPS13Bc.*499T>G (n.*499T>G)
n.11475T>G
c.*7087T>G (n.*7087T>G)
c.11330T>G (p.Ile3777Ser)
c.11405T>G (p.Ile3802Ser)
n.347T>G
c.11402T>G (p.Ile3801Ser)
c.11327T>G (p.Ile3776Ser)
c.11027T>G (p.Ile3676Ser)
c.8291T>G (p.Ile2764Ser)
c.7184T>G (p.Ile2395Ser)
c.11210T>G (p.Ile3737Ser)
c.6962T>G (p.Ile2321Ser)
c.10190T>G (p.Ile3397Ser)
8g.99868404C>ACA462339341VPS13Bc.*500C>A (n.*500C>A)
n.11476C>A
c.*7088C>A (n.*7088C>A)
c.11331C>A (p.Ile3777=)
c.11406C>A (p.Ile3802=)
n.348C>A
c.11403C>A (p.Ile3801=)
c.11328C>A (p.Ile3776=)
c.11028C>A (p.Ile3676=)
c.8292C>A (p.Ile2764=)
c.7185C>A (p.Ile2395=)
c.11211C>A (p.Ile3737=)
c.6963C>A (p.Ile2321=)
c.10191C>A (p.Ile3397=)
8g.99868404C>GCA371792166VPS13Bc.*500C>G (n.*500C>G)
n.11476C>G
c.*7088C>G (n.*7088C>G)
c.11331C>G (p.Ile3777Met)
c.11406C>G (p.Ile3802Met)
n.348C>G
c.11403C>G (p.Ile3801Met)
c.11328C>G (p.Ile3776Met)
c.11028C>G (p.Ile3676Met)
c.8292C>G (p.Ile2764Met)
c.7185C>G (p.Ile2395Met)
c.11211C>G (p.Ile3737Met)
c.6963C>G (p.Ile2321Met)
c.10191C>G (p.Ile3397Met)
8g.99868404C>TCA182328687VPS13Bc.*500C>T (n.*500C>T)
n.11476C>T
c.*7088C>T (n.*7088C>T)
c.11331C>T (p.Ile3777=)
c.11406C>T (p.Ile3802=)
n.348C>T
c.11403C>T (p.Ile3801=)
c.11328C>T (p.Ile3776=)
c.11028C>T (p.Ile3676=)
c.8292C>T (p.Ile2764=)
c.7185C>T (p.Ile2395=)
c.11211C>T (p.Ile3737=)
c.6963C>T (p.Ile2321=)
c.10191C>T (p.Ile3397=)
 ClinVar dbSNP gnomAD v4
8g.99868405A>CCA371792169VPS13Bc.*501A>C (n.*501A>C)
n.11477A>C
c.*7089A>C (n.*7089A>C)
c.11332A>C (p.Met3778Leu)
c.11407A>C (p.Met3803Leu)
n.349A>C
c.11404A>C (p.Met3802Leu)
c.11329A>C (p.Met3777Leu)
c.11029A>C (p.Met3677Leu)
c.8293A>C (p.Met2765Leu)
c.7186A>C (p.Met2396Leu)
c.11212A>C (p.Met3738Leu)
c.6964A>C (p.Met2322Leu)
c.10192A>C (p.Met3398Leu)
8g.99868405A>GCA371792171VPS13Bc.*501A>G (n.*501A>G)
n.11477A>G
c.*7089A>G (n.*7089A>G)
c.11332A>G (p.Met3778Val)
c.11407A>G (p.Met3803Val)
n.349A>G
c.11404A>G (p.Met3802Val)
c.11329A>G (p.Met3777Val)
c.11029A>G (p.Met3677Val)
c.8293A>G (p.Met2765Val)
c.7186A>G (p.Met2396Val)
c.11212A>G (p.Met3738Val)
c.6964A>G (p.Met2322Val)
c.10192A>G (p.Met3398Val)
8g.99868405A>TCA371792174VPS13Bc.*501A>T (n.*501A>T)
n.11477A>T
c.*7089A>T (n.*7089A>T)
c.11332A>T (p.Met3778Leu)
c.11407A>T (p.Met3803Leu)
n.349A>T
c.11404A>T (p.Met3802Leu)
c.11329A>T (p.Met3777Leu)
c.11029A>T (p.Met3677Leu)
c.8293A>T (p.Met2765Leu)
c.7186A>T (p.Met2396Leu)
c.11212A>T (p.Met3738Leu)
c.6964A>T (p.Met2322Leu)
c.10192A>T (p.Met3398Leu)
8g.99868406T>ACA371792179VPS13Bc.*502T>A (n.*502T>A)
n.11478T>A
c.*7090T>A (n.*7090T>A)
c.11333T>A (p.Met3778Lys)
c.11408T>A (p.Met3803Lys)
n.350T>A
c.11405T>A (p.Met3802Lys)
c.11330T>A (p.Met3777Lys)
c.11030T>A (p.Met3677Lys)
c.8294T>A (p.Met2765Lys)
c.7187T>A (p.Met2396Lys)
c.11213T>A (p.Met3738Lys)
c.6965T>A (p.Met2322Lys)
c.10193T>A (p.Met3398Lys)
8g.99868406T>CCA4825210VPS13Bc.*502T>C (n.*502T>C)
n.11478T>C
c.*7090T>C (n.*7090T>C)
c.11333T>C (p.Met3778Thr)
c.11408T>C (p.Met3803Thr)
n.350T>C
c.11405T>C (p.Met3802Thr)
c.11330T>C (p.Met3777Thr)
c.11030T>C (p.Met3677Thr)
c.8294T>C (p.Met2765Thr)
c.7187T>C (p.Met2396Thr)
c.11213T>C (p.Met3738Thr)
c.6965T>C (p.Met2322Thr)
c.10193T>C (p.Met3398Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868406T>GCA371792183VPS13Bc.*502T>G (n.*502T>G)
n.11478T>G
c.*7090T>G (n.*7090T>G)
c.11333T>G (p.Met3778Arg)
c.11408T>G (p.Met3803Arg)
n.350T>G
c.11405T>G (p.Met3802Arg)
c.11330T>G (p.Met3777Arg)
c.11030T>G (p.Met3677Arg)
c.8294T>G (p.Met2765Arg)
c.7187T>G (p.Met2396Arg)
c.11213T>G (p.Met3738Arg)
c.6965T>G (p.Met2322Arg)
c.10193T>G (p.Met3398Arg)
8g.99868406dupCA913128148VPS13Bc.*502dup (n.*502dup)
n.11478dup
c.*7090dup (n.*7090dup)
c.11333dup (p.Met3778IlefsTer13)
c.11408dup (p.Met3803IlefsTer13)
n.350dup
c.11405dup (p.Met3802IlefsTer13)
c.11330dup (p.Met3777IlefsTer13)
c.11030dup (p.Met3677IlefsTer13)
c.8294dup (p.Met2765IlefsTer13)
c.7187dup (p.Met2396IlefsTer13)
c.11213dup (p.Met3738IlefsTer13)
c.6965dup (p.Met2322IlefsTer13)
c.10193dup (p.Met3398IlefsTer13)
8g.99868407G>ACA4825211VPS13Bc.*503G>A (n.*503G>A)
n.11479G>A
c.*7091G>A (n.*7091G>A)
c.11334G>A (p.Met3778Ile)
c.11409G>A (p.Met3803Ile)
n.351G>A
c.11406G>A (p.Met3802Ile)
c.11331G>A (p.Met3777Ile)
c.11031G>A (p.Met3677Ile)
c.8295G>A (p.Met2765Ile)
c.7188G>A (p.Met2396Ile)
c.11214G>A (p.Met3738Ile)
c.6966G>A (p.Met2322Ile)
c.10194G>A (p.Met3398Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868407G>CCA371792189VPS13Bc.*503G>C (n.*503G>C)
n.11479G>C
c.*7091G>C (n.*7091G>C)
c.11334G>C (p.Met3778Ile)
c.11409G>C (p.Met3803Ile)
n.351G>C
c.11406G>C (p.Met3802Ile)
c.11331G>C (p.Met3777Ile)
c.11031G>C (p.Met3677Ile)
c.8295G>C (p.Met2765Ile)
c.7188G>C (p.Met2396Ile)
c.11214G>C (p.Met3738Ile)
c.6966G>C (p.Met2322Ile)
c.10194G>C (p.Met3398Ile)
 ClinVar dbSNP
8g.99868407G>TCA371792192VPS13Bc.*503G>T (n.*503G>T)
n.11479G>T
c.*7091G>T (n.*7091G>T)
c.11334G>T (p.Met3778Ile)
c.11409G>T (p.Met3803Ile)
n.351G>T
c.11406G>T (p.Met3802Ile)
c.11331G>T (p.Met3777Ile)
c.11031G>T (p.Met3677Ile)
c.8295G>T (p.Met2765Ile)
c.7188G>T (p.Met2396Ile)
c.11214G>T (p.Met3738Ile)
c.6966G>T (p.Met2322Ile)
c.10194G>T (p.Met3398Ile)
8g.99868411dupCA658821918VPS13Bc.*507dup (n.*507dup)
n.11483dup
c.*7095dup (n.*7095dup)
c.11338dup (p.Val3780GlyfsTer11)
c.11413dup (p.Val3805GlyfsTer11)
n.355dup
c.11410dup (p.Val3804GlyfsTer11)
c.11335dup (p.Val3779GlyfsTer11)
c.11035dup (p.Val3679GlyfsTer11)
c.8299dup (p.Val2767GlyfsTer11)
c.7192dup (p.Val2398GlyfsTer11)
c.11218dup (p.Val3740GlyfsTer11)
c.6970dup (p.Val2324GlyfsTer11)
c.10198dup (p.Val3400GlyfsTer11)
 ClinVar dbSNP
8g.99868408G>ACA371792194VPS13Bc.*504G>A (n.*504G>A)
n.11480G>A
c.*7092G>A (n.*7092G>A)
c.11335G>A (p.Gly3779Arg)
c.11410G>A (p.Gly3804Arg)
n.352G>A
c.11407G>A (p.Gly3803Arg)
c.11332G>A (p.Gly3778Arg)
c.11032G>A (p.Gly3678Arg)
c.8296G>A (p.Gly2766Arg)
c.7189G>A (p.Gly2397Arg)
c.11215G>A (p.Gly3739Arg)
c.6967G>A (p.Gly2323Arg)
c.10195G>A (p.Gly3399Arg)
8g.99868408G>CCA371792197VPS13Bc.*504G>C (n.*504G>C)
n.11480G>C
c.*7092G>C (n.*7092G>C)
c.11335G>C (p.Gly3779Arg)
c.11410G>C (p.Gly3804Arg)
n.352G>C
c.11407G>C (p.Gly3803Arg)
c.11332G>C (p.Gly3778Arg)
c.11032G>C (p.Gly3678Arg)
c.8296G>C (p.Gly2766Arg)
c.7189G>C (p.Gly2397Arg)
c.11215G>C (p.Gly3739Arg)
c.6967G>C (p.Gly2323Arg)
c.10195G>C (p.Gly3399Arg)
8g.99868408G>TCA371792199VPS13Bc.*504G>T (n.*504G>T)
n.11480G>T
c.*7092G>T (n.*7092G>T)
c.11335G>T (p.Gly3779Trp)
c.11410G>T (p.Gly3804Trp)
n.352G>T
c.11407G>T (p.Gly3803Trp)
c.11332G>T (p.Gly3778Trp)
c.11032G>T (p.Gly3678Trp)
c.8296G>T (p.Gly2766Trp)
c.7189G>T (p.Gly2397Trp)
c.11215G>T (p.Gly3739Trp)
c.6967G>T (p.Gly2323Trp)
c.10195G>T (p.Gly3399Trp)
8g.99868409G>ACA371792202VPS13Bc.*505G>A (n.*505G>A)
n.11481G>A
c.*7093G>A (n.*7093G>A)
c.11336G>A (p.Gly3779Glu)
c.11411G>A (p.Gly3804Glu)
n.353G>A
c.11408G>A (p.Gly3803Glu)
c.11333G>A (p.Gly3778Glu)
c.11033G>A (p.Gly3678Glu)
c.8297G>A (p.Gly2766Glu)
c.7190G>A (p.Gly2397Glu)
c.11216G>A (p.Gly3739Glu)
c.6968G>A (p.Gly2323Glu)
c.10196G>A (p.Gly3399Glu)
8g.99868409G>CCA371792205VPS13Bc.*505G>C (n.*505G>C)
n.11481G>C
c.*7093G>C (n.*7093G>C)
c.11336G>C (p.Gly3779Ala)
c.11411G>C (p.Gly3804Ala)
n.353G>C
c.11408G>C (p.Gly3803Ala)
c.11333G>C (p.Gly3778Ala)
c.11033G>C (p.Gly3678Ala)
c.8297G>C (p.Gly2766Ala)
c.7190G>C (p.Gly2397Ala)
c.11216G>C (p.Gly3739Ala)
c.6968G>C (p.Gly2323Ala)
c.10196G>C (p.Gly3399Ala)
 ClinVar
8g.99868409G>TCA371792207VPS13Bc.*505G>T (n.*505G>T)
n.11481G>T
c.*7093G>T (n.*7093G>T)
c.11336G>T (p.Gly3779Val)
c.11411G>T (p.Gly3804Val)
n.353G>T
c.11408G>T (p.Gly3803Val)
c.11333G>T (p.Gly3778Val)
c.11033G>T (p.Gly3678Val)
c.8297G>T (p.Gly2766Val)
c.7190G>T (p.Gly2397Val)
c.11216G>T (p.Gly3739Val)
c.6968G>T (p.Gly2323Val)
c.10196G>T (p.Gly3399Val)
8g.99868410G>ACA462339350VPS13Bc.*506G>A (n.*506G>A)
n.11482G>A
c.*7094G>A (n.*7094G>A)
c.11337G>A (p.Gly3779=)
c.11412G>A (p.Gly3804=)
n.354G>A
c.11409G>A (p.Gly3803=)
c.11334G>A (p.Gly3778=)
c.11034G>A (p.Gly3678=)
c.8298G>A (p.Gly2766=)
c.7191G>A (p.Gly2397=)
c.11217G>A (p.Gly3739=)
c.6969G>A (p.Gly2323=)
c.10197G>A (p.Gly3399=)
8g.99868410G>CCA462339351VPS13Bc.*506G>C (n.*506G>C)
n.11482G>C
c.*7094G>C (n.*7094G>C)
c.11337G>C (p.Gly3779=)
c.11412G>C (p.Gly3804=)
n.354G>C
c.11409G>C (p.Gly3803=)
c.11334G>C (p.Gly3778=)
c.11034G>C (p.Gly3678=)
c.8298G>C (p.Gly2766=)
c.7191G>C (p.Gly2397=)
c.11217G>C (p.Gly3739=)
c.6969G>C (p.Gly2323=)
c.10197G>C (p.Gly3399=)
 ClinVar dbSNP
8g.99868410G>TCA462339353VPS13Bc.*506G>T (n.*506G>T)
n.11482G>T
c.*7094G>T (n.*7094G>T)
c.11337G>T (p.Gly3779=)
c.11412G>T (p.Gly3804=)
n.354G>T
c.11409G>T (p.Gly3803=)
c.11334G>T (p.Gly3778=)
c.11034G>T (p.Gly3678=)
c.8298G>T (p.Gly2766=)
c.7191G>T (p.Gly2397=)
c.11217G>T (p.Gly3739=)
c.6969G>T (p.Gly2323=)
c.10197G>T (p.Gly3399=)
 gnomAD v4
8g.99868411G>ACA371792211VPS13Bc.*507G>A (n.*507G>A)
n.11483G>A
c.*7095G>A (n.*7095G>A)
c.11338G>A (p.Val3780Met)
c.11413G>A (p.Val3805Met)
n.355G>A
c.11410G>A (p.Val3804Met)
c.11335G>A (p.Val3779Met)
c.11035G>A (p.Val3679Met)
c.8299G>A (p.Val2767Met)
c.7192G>A (p.Val2398Met)
c.11218G>A (p.Val3740Met)
c.6970G>A (p.Val2324Met)
c.10198G>A (p.Val3400Met)
 dbSNP
8g.99868411G>CCA371792214VPS13Bc.*507G>C (n.*507G>C)
n.11483G>C
c.*7095G>C (n.*7095G>C)
c.11338G>C (p.Val3780Leu)
c.11413G>C (p.Val3805Leu)
n.355G>C
c.11410G>C (p.Val3804Leu)
c.11335G>C (p.Val3779Leu)
c.11035G>C (p.Val3679Leu)
c.8299G>C (p.Val2767Leu)
c.7192G>C (p.Val2398Leu)
c.11218G>C (p.Val3740Leu)
c.6970G>C (p.Val2324Leu)
c.10198G>C (p.Val3400Leu)
8g.99868411G>TCA4825212VPS13Bc.*507G>T (n.*507G>T)
n.11483G>T
c.*7095G>T (n.*7095G>T)
c.11338G>T (p.Val3780Leu)
c.11413G>T (p.Val3805Leu)
n.355G>T
c.11410G>T (p.Val3804Leu)
c.11335G>T (p.Val3779Leu)
c.11035G>T (p.Val3679Leu)
c.8299G>T (p.Val2767Leu)
c.7192G>T (p.Val2398Leu)
c.11218G>T (p.Val3740Leu)
c.6970G>T (p.Val2324Leu)
c.10198G>T (p.Val3400Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868412T>ACA371792225VPS13Bc.*508T>A (n.*508T>A)
n.11484T>A
c.*7096T>A (n.*7096T>A)
c.11339T>A (p.Val3780Glu)
c.11414T>A (p.Val3805Glu)
n.356T>A
c.11411T>A (p.Val3804Glu)
c.11336T>A (p.Val3779Glu)
c.11036T>A (p.Val3679Glu)
c.8300T>A (p.Val2767Glu)
c.7193T>A (p.Val2398Glu)
c.11219T>A (p.Val3740Glu)
c.6971T>A (p.Val2324Glu)
c.10199T>A (p.Val3400Glu)
8g.99868412T>CCA371792220VPS13Bc.*508T>C (n.*508T>C)
n.11484T>C
c.*7096T>C (n.*7096T>C)
c.11339T>C (p.Val3780Ala)
c.11414T>C (p.Val3805Ala)
n.356T>C
c.11411T>C (p.Val3804Ala)
c.11336T>C (p.Val3779Ala)
c.11036T>C (p.Val3679Ala)
c.8300T>C (p.Val2767Ala)
c.7193T>C (p.Val2398Ala)
c.11219T>C (p.Val3740Ala)
c.6971T>C (p.Val2324Ala)
c.10199T>C (p.Val3400Ala)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.99868412T>GCA371792221VPS13Bc.*508T>G (n.*508T>G)
n.11484T>G
c.*7096T>G (n.*7096T>G)
c.11339T>G (p.Val3780Gly)
c.11414T>G (p.Val3805Gly)
n.356T>G
c.11411T>G (p.Val3804Gly)
c.11336T>G (p.Val3779Gly)
c.11036T>G (p.Val3679Gly)
c.8300T>G (p.Val2767Gly)
c.7193T>G (p.Val2398Gly)
c.11219T>G (p.Val3740Gly)
c.6971T>G (p.Val2324Gly)
c.10199T>G (p.Val3400Gly)
8g.99868413G>ACA462339359VPS13Bc.*509G>A (n.*509G>A)
n.11485G>A
c.*7097G>A (n.*7097G>A)
c.11340G>A (p.Val3780=)
c.11415G>A (p.Val3805=)
n.357G>A
c.11412G>A (p.Val3804=)
c.11337G>A (p.Val3779=)
c.11037G>A (p.Val3679=)
c.8301G>A (p.Val2767=)
c.7194G>A (p.Val2398=)
c.11220G>A (p.Val3740=)
c.6972G>A (p.Val2324=)
c.10200G>A (p.Val3400=)
8g.99868413G>CCA462339360VPS13Bc.*509G>C (n.*509G>C)
n.11485G>C
c.*7097G>C (n.*7097G>C)
c.11340G>C (p.Val3780=)
c.11415G>C (p.Val3805=)
n.357G>C
c.11412G>C (p.Val3804=)
c.11337G>C (p.Val3779=)
c.11037G>C (p.Val3679=)
c.8301G>C (p.Val2767=)
c.7194G>C (p.Val2398=)
c.11220G>C (p.Val3740=)
c.6972G>C (p.Val2324=)
c.10200G>C (p.Val3400=)
8g.99868413G>TCA462339361VPS13Bc.*509G>T (n.*509G>T)
n.11485G>T
c.*7097G>T (n.*7097G>T)
c.11340G>T (p.Val3780=)
c.11415G>T (p.Val3805=)
n.357G>T
c.11412G>T (p.Val3804=)
c.11337G>T (p.Val3779=)
c.11037G>T (p.Val3679=)
c.8301G>T (p.Val2767=)
c.7194G>T (p.Val2398=)
c.11220G>T (p.Val3740=)
c.6972G>T (p.Val2324=)
c.10200G>T (p.Val3400=)
8g.99868414T>ACA371792229VPS13Bc.*510T>A (n.*510T>A)
n.11486T>A
c.*7098T>A (n.*7098T>A)
c.11341T>A (p.Phe3781Ile)
c.11416T>A (p.Phe3806Ile)
n.358T>A
c.11413T>A (p.Phe3805Ile)
c.11338T>A (p.Phe3780Ile)
c.11038T>A (p.Phe3680Ile)
c.8302T>A (p.Phe2768Ile)
c.7195T>A (p.Phe2399Ile)
c.11221T>A (p.Phe3741Ile)
c.6973T>A (p.Phe2325Ile)
c.10201T>A (p.Phe3401Ile)
8g.99868414T>CCA371792232VPS13Bc.*510T>C (n.*510T>C)
n.11486T>C
c.*7098T>C (n.*7098T>C)
c.11341T>C (p.Phe3781Leu)
c.11416T>C (p.Phe3806Leu)
n.358T>C
c.11413T>C (p.Phe3805Leu)
c.11338T>C (p.Phe3780Leu)
c.11038T>C (p.Phe3680Leu)
c.8302T>C (p.Phe2768Leu)
c.7195T>C (p.Phe2399Leu)
c.11221T>C (p.Phe3741Leu)
c.6973T>C (p.Phe2325Leu)
c.10201T>C (p.Phe3401Leu)
 gnomAD v4
8g.99868414T>GCA371792233VPS13Bc.*510T>G (n.*510T>G)
n.11486T>G
c.*7098T>G (n.*7098T>G)
c.11341T>G (p.Phe3781Val)
c.11416T>G (p.Phe3806Val)
n.358T>G
c.11413T>G (p.Phe3805Val)
c.11338T>G (p.Phe3780Val)
c.11038T>G (p.Phe3680Val)
c.8302T>G (p.Phe2768Val)
c.7195T>G (p.Phe2399Val)
c.11221T>G (p.Phe3741Val)
c.6973T>G (p.Phe2325Val)
c.10201T>G (p.Phe3401Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99868415T>ACA371792238VPS13Bc.*511T>A (n.*511T>A)
n.11487T>A
c.*7099T>A (n.*7099T>A)
c.11342T>A (p.Phe3781Tyr)
c.11417T>A (p.Phe3806Tyr)
n.359T>A
c.11414T>A (p.Phe3805Tyr)
c.11339T>A (p.Phe3780Tyr)
c.11039T>A (p.Phe3680Tyr)
c.8303T>A (p.Phe2768Tyr)
c.7196T>A (p.Phe2399Tyr)
c.11222T>A (p.Phe3741Tyr)
c.6974T>A (p.Phe2325Tyr)
c.10202T>A (p.Phe3401Tyr)
8g.99868415T>CCA371792240VPS13Bc.*511T>C (n.*511T>C)
n.11487T>C
c.*7099T>C (n.*7099T>C)
c.11342T>C (p.Phe3781Ser)
c.11417T>C (p.Phe3806Ser)
n.359T>C
c.11414T>C (p.Phe3805Ser)
c.11339T>C (p.Phe3780Ser)
c.11039T>C (p.Phe3680Ser)
c.8303T>C (p.Phe2768Ser)
c.7196T>C (p.Phe2399Ser)
c.11222T>C (p.Phe3741Ser)
c.6974T>C (p.Phe2325Ser)
c.10202T>C (p.Phe3401Ser)
8g.99868415T>GCA371792242VPS13Bc.*511T>G (n.*511T>G)
n.11487T>G
c.*7099T>G (n.*7099T>G)
c.11342T>G (p.Phe3781Cys)
c.11417T>G (p.Phe3806Cys)
n.359T>G
c.11414T>G (p.Phe3805Cys)
c.11339T>G (p.Phe3780Cys)
c.11039T>G (p.Phe3680Cys)
c.8303T>G (p.Phe2768Cys)
c.7196T>G (p.Phe2399Cys)
c.11222T>G (p.Phe3741Cys)
c.6974T>G (p.Phe2325Cys)
c.10202T>G (p.Phe3401Cys)
8g.99868416C>ACA371792249VPS13Bc.*512C>A (n.*512C>A)
n.11488C>A
c.*7100C>A (n.*7100C>A)
c.11343C>A (p.Phe3781Leu)
c.11418C>A (p.Phe3806Leu)
n.360C>A
c.11415C>A (p.Phe3805Leu)
c.11340C>A (p.Phe3780Leu)
c.11040C>A (p.Phe3680Leu)
c.8304C>A (p.Phe2768Leu)
c.7197C>A (p.Phe2399Leu)
c.11223C>A (p.Phe3741Leu)
c.6975C>A (p.Phe2325Leu)
c.10203C>A (p.Phe3401Leu)
8g.99868416C>GCA371792246VPS13Bc.*512C>G (n.*512C>G)
n.11488C>G
c.*7100C>G (n.*7100C>G)
c.11343C>G (p.Phe3781Leu)
c.11418C>G (p.Phe3806Leu)
n.360C>G
c.11415C>G (p.Phe3805Leu)
c.11340C>G (p.Phe3780Leu)
c.11040C>G (p.Phe3680Leu)
c.8304C>G (p.Phe2768Leu)
c.7197C>G (p.Phe2399Leu)
c.11223C>G (p.Phe3741Leu)
c.6975C>G (p.Phe2325Leu)
c.10203C>G (p.Phe3401Leu)
8g.99868416C>TCA462339368VPS13Bc.*512C>T (n.*512C>T)
n.11488C>T
c.*7100C>T (n.*7100C>T)
c.11343C>T (p.Phe3781=)
c.11418C>T (p.Phe3806=)
n.360C>T
c.11415C>T (p.Phe3805=)
c.11340C>T (p.Phe3780=)
c.11040C>T (p.Phe3680=)
c.8304C>T (p.Phe2768=)
c.7197C>T (p.Phe2399=)
c.11223C>T (p.Phe3741=)
c.6975C>T (p.Phe2325=)
c.10203C>T (p.Phe3401=)
8g.99868417A>CCA371792252VPS13Bc.*513A>C (n.*513A>C)
n.11489A>C
c.*7101A>C (n.*7101A>C)
c.11344A>C (p.Thr3782Pro)
c.11419A>C (p.Thr3807Pro)
n.361A>C
c.11416A>C (p.Thr3806Pro)
c.11341A>C (p.Thr3781Pro)
c.11041A>C (p.Thr3681Pro)
c.8305A>C (p.Thr2769Pro)
c.7198A>C (p.Thr2400Pro)
c.11224A>C (p.Thr3742Pro)
c.6976A>C (p.Thr2326Pro)
c.10204A>C (p.Thr3402Pro)
8g.99868417A>GCA371792254VPS13Bc.*513A>G (n.*513A>G)
n.11489A>G
c.*7101A>G (n.*7101A>G)
c.11344A>G (p.Thr3782Ala)
c.11419A>G (p.Thr3807Ala)
n.361A>G
c.11416A>G (p.Thr3806Ala)
c.11341A>G (p.Thr3781Ala)
c.11041A>G (p.Thr3681Ala)
c.8305A>G (p.Thr2769Ala)
c.7198A>G (p.Thr2400Ala)
c.11224A>G (p.Thr3742Ala)
c.6976A>G (p.Thr2326Ala)
c.10204A>G (p.Thr3402Ala)
8g.99868417A>TCA371792259VPS13Bc.*513A>T (n.*513A>T)
n.11489A>T
c.*7101A>T (n.*7101A>T)
c.11344A>T (p.Thr3782Ser)
c.11419A>T (p.Thr3807Ser)
n.361A>T
c.11416A>T (p.Thr3806Ser)
c.11341A>T (p.Thr3781Ser)
c.11041A>T (p.Thr3681Ser)
c.8305A>T (p.Thr2769Ser)
c.7198A>T (p.Thr2400Ser)
c.11224A>T (p.Thr3742Ser)
c.6976A>T (p.Thr2326Ser)
c.10204A>T (p.Thr3402Ser)
8g.99868418C>ACA371792262VPS13Bc.*514C>A (n.*514C>A)
n.11490C>A
c.*7102C>A (n.*7102C>A)
c.11345C>A (p.Thr3782Lys)
c.11420C>A (p.Thr3807Lys)
n.362C>A
c.11417C>A (p.Thr3806Lys)
c.11342C>A (p.Thr3781Lys)
c.11042C>A (p.Thr3681Lys)
c.8306C>A (p.Thr2769Lys)
c.7199C>A (p.Thr2400Lys)
c.11225C>A (p.Thr3742Lys)
c.6977C>A (p.Thr2326Lys)
c.10205C>A (p.Thr3402Lys)
8g.99868418C>GCA371792264VPS13Bc.*514C>G (n.*514C>G)
n.11490C>G
c.*7102C>G (n.*7102C>G)
c.11345C>G (p.Thr3782Arg)
c.11420C>G (p.Thr3807Arg)
n.362C>G
c.11417C>G (p.Thr3806Arg)
c.11342C>G (p.Thr3781Arg)
c.11042C>G (p.Thr3681Arg)
c.8306C>G (p.Thr2769Arg)
c.7199C>G (p.Thr2400Arg)
c.11225C>G (p.Thr3742Arg)
c.6977C>G (p.Thr2326Arg)
c.10205C>G (p.Thr3402Arg)
8g.99868418C>TCA371792266VPS13Bc.*514C>T (n.*514C>T)
n.11490C>T
c.*7102C>T (n.*7102C>T)
c.11345C>T (p.Thr3782Ile)
c.11420C>T (p.Thr3807Ile)
n.362C>T
c.11417C>T (p.Thr3806Ile)
c.11342C>T (p.Thr3781Ile)
c.11042C>T (p.Thr3681Ile)
c.8306C>T (p.Thr2769Ile)
c.7199C>T (p.Thr2400Ile)
c.11225C>T (p.Thr3742Ile)
c.6977C>T (p.Thr2326Ile)
c.10205C>T (p.Thr3402Ile)
8g.99868419A>CCA462339377VPS13Bc.*515A>C (n.*515A>C)
n.11491A>C
c.*7103A>C (n.*7103A>C)
c.11346A>C (p.Thr3782=)
c.11421A>C (p.Thr3807=)
n.363A>C
c.11418A>C (p.Thr3806=)
c.11343A>C (p.Thr3781=)
c.11043A>C (p.Thr3681=)
c.8307A>C (p.Thr2769=)
c.7200A>C (p.Thr2400=)
c.11226A>C (p.Thr3742=)
c.6978A>C (p.Thr2326=)
c.10206A>C (p.Thr3402=)
8g.99868419A>GCA462339375VPS13Bc.*515A>G (n.*515A>G)
n.11491A>G
c.*7103A>G (n.*7103A>G)
c.11346A>G (p.Thr3782=)
c.11421A>G (p.Thr3807=)
n.363A>G
c.11418A>G (p.Thr3806=)
c.11343A>G (p.Thr3781=)
c.11043A>G (p.Thr3681=)
c.8307A>G (p.Thr2769=)
c.7200A>G (p.Thr2400=)
c.11226A>G (p.Thr3742=)
c.6978A>G (p.Thr2326=)
c.10206A>G (p.Thr3402=)
8g.99868419A>TCA462339374VPS13Bc.*515A>T (n.*515A>T)
n.11491A>T
c.*7103A>T (n.*7103A>T)
c.11346A>T (p.Thr3782=)
c.11421A>T (p.Thr3807=)
n.363A>T
c.11418A>T (p.Thr3806=)
c.11343A>T (p.Thr3781=)
c.11043A>T (p.Thr3681=)
c.8307A>T (p.Thr2769=)
c.7200A>T (p.Thr2400=)
c.11226A>T (p.Thr3742=)
c.6978A>T (p.Thr2326=)
c.10206A>T (p.Thr3402=)
8g.99868420A>CCA371792270VPS13Bc.*516A>C (n.*516A>C)
n.11492A>C
c.*7104A>C (n.*7104A>C)
c.11347A>C (p.Lys3783Gln)
c.11422A>C (p.Lys3808Gln)
n.364A>C
c.11419A>C (p.Lys3807Gln)
c.11344A>C (p.Lys3782Gln)
c.11044A>C (p.Lys3682Gln)
c.8308A>C (p.Lys2770Gln)
c.7201A>C (p.Lys2401Gln)
c.11227A>C (p.Lys3743Gln)
c.6979A>C (p.Lys2327Gln)
c.10207A>C (p.Lys3403Gln)
8g.99868420A>GCA371792275VPS13Bc.*516A>G (n.*516A>G)
n.11492A>G
c.*7104A>G (n.*7104A>G)
c.11347A>G (p.Lys3783Glu)
c.11422A>G (p.Lys3808Glu)
n.364A>G
c.11419A>G (p.Lys3807Glu)
c.11344A>G (p.Lys3782Glu)
c.11044A>G (p.Lys3682Glu)
c.8308A>G (p.Lys2770Glu)
c.7201A>G (p.Lys2401Glu)
c.11227A>G (p.Lys3743Glu)
c.6979A>G (p.Lys2327Glu)
c.10207A>G (p.Lys3403Glu)
8g.99868420A>TCA371792272VPS13Bc.*516A>T (n.*516A>T)
n.11492A>T
c.*7104A>T (n.*7104A>T)
c.11347A>T (p.Lys3783Ter)
c.11422A>T (p.Lys3808Ter)
n.364A>T
c.11419A>T (p.Lys3807Ter)
c.11344A>T (p.Lys3782Ter)
c.11044A>T (p.Lys3682Ter)
c.8308A>T (p.Lys2770Ter)
c.7201A>T (p.Lys2401Ter)
c.11227A>T (p.Lys3743Ter)
c.6979A>T (p.Lys2327Ter)
c.10207A>T (p.Lys3403Ter)
8g.99868421A>CCA371792279VPS13Bc.*517A>C (n.*517A>C)
n.11493A>C
c.*7105A>C (n.*7105A>C)
c.11348A>C (p.Lys3783Thr)
c.11423A>C (p.Lys3808Thr)
n.365A>C
c.11420A>C (p.Lys3807Thr)
c.11345A>C (p.Lys3782Thr)
c.11045A>C (p.Lys3682Thr)
c.8309A>C (p.Lys2770Thr)
c.7202A>C (p.Lys2401Thr)
c.11228A>C (p.Lys3743Thr)
c.6980A>C (p.Lys2327Thr)
c.10208A>C (p.Lys3403Thr)
 gnomAD v4
8g.99868421A>GCA371792281VPS13Bc.*517A>G (n.*517A>G)
n.11493A>G
c.*7105A>G (n.*7105A>G)
c.11348A>G (p.Lys3783Arg)
c.11423A>G (p.Lys3808Arg)
n.365A>G
c.11420A>G (p.Lys3807Arg)
c.11345A>G (p.Lys3782Arg)
c.11045A>G (p.Lys3682Arg)
c.8309A>G (p.Lys2770Arg)
c.7202A>G (p.Lys2401Arg)
c.11228A>G (p.Lys3743Arg)
c.6980A>G (p.Lys2327Arg)
c.10208A>G (p.Lys3403Arg)
8g.99868421A>TCA371792283VPS13Bc.*517A>T (n.*517A>T)
n.11493A>T
c.*7105A>T (n.*7105A>T)
c.11348A>T (p.Lys3783Met)
c.11423A>T (p.Lys3808Met)
n.365A>T
c.11420A>T (p.Lys3807Met)
c.11345A>T (p.Lys3782Met)
c.11045A>T (p.Lys3682Met)
c.8309A>T (p.Lys2770Met)
c.7202A>T (p.Lys2401Met)
c.11228A>T (p.Lys3743Met)
c.6980A>T (p.Lys2327Met)
c.10208A>T (p.Lys3403Met)
8g.99868422G>ACA462339386VPS13Bc.*518G>A (n.*518G>A)
n.11494G>A
c.*7106G>A (n.*7106G>A)
c.11349G>A (p.Lys3783=)
c.11424G>A (p.Lys3808=)
n.366G>A
c.11421G>A (p.Lys3807=)
c.11346G>A (p.Lys3782=)
c.11046G>A (p.Lys3682=)
c.8310G>A (p.Lys2770=)
c.7203G>A (p.Lys2401=)
c.11229G>A (p.Lys3743=)
c.6981G>A (p.Lys2327=)
c.10209G>A (p.Lys3403=)
8g.99868422G>CCA371792287VPS13Bc.*518G>C (n.*518G>C)
n.11494G>C
c.*7106G>C (n.*7106G>C)
c.11349G>C (p.Lys3783Asn)
c.11424G>C (p.Lys3808Asn)
n.366G>C
c.11421G>C (p.Lys3807Asn)
c.11346G>C (p.Lys3782Asn)
c.11046G>C (p.Lys3682Asn)
c.8310G>C (p.Lys2770Asn)
c.7203G>C (p.Lys2401Asn)
c.11229G>C (p.Lys3743Asn)
c.6981G>C (p.Lys2327Asn)
c.10209G>C (p.Lys3403Asn)
8g.99868422G>TCA371792289VPS13Bc.*518G>T (n.*518G>T)
n.11494G>T
c.*7106G>T (n.*7106G>T)
c.11349G>T (p.Lys3783Asn)
c.11424G>T (p.Lys3808Asn)
n.366G>T
c.11421G>T (p.Lys3807Asn)
c.11346G>T (p.Lys3782Asn)
c.11046G>T (p.Lys3682Asn)
c.8310G>T (p.Lys2770Asn)
c.7203G>T (p.Lys2401Asn)
c.11229G>T (p.Lys3743Asn)
c.6981G>T (p.Lys2327Asn)
c.10209G>T (p.Lys3403Asn)
 dbSNP
8g.99868423C>ACA371792290VPS13Bc.*519C>A (n.*519C>A)
n.11495C>A
c.*7107C>A (n.*7107C>A)
c.11350C>A (p.Pro3784Thr)
c.11425C>A (p.Pro3809Thr)
n.367C>A
c.11422C>A (p.Pro3808Thr)
c.11347C>A (p.Pro3783Thr)
c.11047C>A (p.Pro3683Thr)
c.8311C>A (p.Pro2771Thr)
c.7204C>A (p.Pro2402Thr)
c.11230C>A (p.Pro3744Thr)
c.6982C>A (p.Pro2328Thr)
c.10210C>A (p.Pro3404Thr)
 gnomAD v4
8g.99868423C>GCA371792292VPS13Bc.*519C>G (n.*519C>G)
n.11495C>G
c.*7107C>G (n.*7107C>G)
c.11350C>G (p.Pro3784Ala)
c.11425C>G (p.Pro3809Ala)
n.367C>G
c.11422C>G (p.Pro3808Ala)
c.11347C>G (p.Pro3783Ala)
c.11047C>G (p.Pro3683Ala)
c.8311C>G (p.Pro2771Ala)
c.7204C>G (p.Pro2402Ala)
c.11230C>G (p.Pro3744Ala)
c.6982C>G (p.Pro2328Ala)
c.10210C>G (p.Pro3404Ala)
8g.99868423C>TCA371792294VPS13Bc.*519C>T (n.*519C>T)
n.11495C>T
c.*7107C>T (n.*7107C>T)
c.11350C>T (p.Pro3784Ser)
c.11425C>T (p.Pro3809Ser)
n.367C>T
c.11422C>T (p.Pro3808Ser)
c.11347C>T (p.Pro3783Ser)
c.11047C>T (p.Pro3683Ser)
c.8311C>T (p.Pro2771Ser)
c.7204C>T (p.Pro2402Ser)
c.11230C>T (p.Pro3744Ser)
c.6982C>T (p.Pro2328Ser)
c.10210C>T (p.Pro3404Ser)
8g.99868425dupCA2697550081VPS13Bc.*521dup (n.*521dup)
n.11497dup
c.*7109dup (n.*7109dup)
c.11352dup (p.Ile3785HisfsTer6)
c.11427dup (p.Ile3810HisfsTer6)
n.369dup
c.11424dup (p.Ile3809HisfsTer6)
c.11349dup (p.Ile3784HisfsTer6)
c.11049dup (p.Ile3684HisfsTer6)
c.8313dup (p.Ile2772HisfsTer6)
c.7206dup (p.Ile2403HisfsTer6)
c.11232dup (p.Ile3745HisfsTer6)
c.6984dup (p.Ile2329HisfsTer6)
c.10212dup (p.Ile3405HisfsTer6)
 ClinVar
8g.99868424C>ACA371792296VPS13Bc.*520C>A (n.*520C>A)
n.11496C>A
c.*7108C>A (n.*7108C>A)
c.11351C>A (p.Pro3784His)
c.11426C>A (p.Pro3809His)
n.368C>A
c.11423C>A (p.Pro3808His)
c.11348C>A (p.Pro3783His)
c.11048C>A (p.Pro3683His)
c.8312C>A (p.Pro2771His)
c.7205C>A (p.Pro2402His)
c.11231C>A (p.Pro3744His)
c.6983C>A (p.Pro2328His)
c.10211C>A (p.Pro3404His)
8g.99868424C>GCA371792299VPS13Bc.*520C>G (n.*520C>G)
n.11496C>G
c.*7108C>G (n.*7108C>G)
c.11351C>G (p.Pro3784Arg)
c.11426C>G (p.Pro3809Arg)
n.368C>G
c.11423C>G (p.Pro3808Arg)
c.11348C>G (p.Pro3783Arg)
c.11048C>G (p.Pro3683Arg)
c.8312C>G (p.Pro2771Arg)
c.7205C>G (p.Pro2402Arg)
c.11231C>G (p.Pro3744Arg)
c.6983C>G (p.Pro2328Arg)
c.10211C>G (p.Pro3404Arg)
8g.99868424C>TCA182328694VPS13Bc.*520C>T (n.*520C>T)
n.11496C>T
c.*7108C>T (n.*7108C>T)
c.11351C>T (p.Pro3784Leu)
c.11426C>T (p.Pro3809Leu)
n.368C>T
c.11423C>T (p.Pro3808Leu)
c.11348C>T (p.Pro3783Leu)
c.11048C>T (p.Pro3683Leu)
c.8312C>T (p.Pro2771Leu)
c.7205C>T (p.Pro2402Leu)
c.11231C>T (p.Pro3744Leu)
c.6983C>T (p.Pro2328Leu)
c.10211C>T (p.Pro3404Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.99868425C>ACA462339394VPS13Bc.*521C>A (n.*521C>A)
n.11497C>A
c.*7109C>A (n.*7109C>A)
c.11352C>A (p.Pro3784=)
c.11427C>A (p.Pro3809=)
n.369C>A
c.11424C>A (p.Pro3808=)
c.11349C>A (p.Pro3783=)
c.11049C>A (p.Pro3683=)
c.8313C>A (p.Pro2771=)
c.7206C>A (p.Pro2402=)
c.11232C>A (p.Pro3744=)
c.6984C>A (p.Pro2328=)
c.10212C>A (p.Pro3404=)
8g.99868425C>GCA462339396VPS13Bc.*521C>G (n.*521C>G)
n.11497C>G
c.*7109C>G (n.*7109C>G)
c.11352C>G (p.Pro3784=)
c.11427C>G (p.Pro3809=)
n.369C>G
c.11424C>G (p.Pro3808=)
c.11349C>G (p.Pro3783=)
c.11049C>G (p.Pro3683=)
c.8313C>G (p.Pro2771=)
c.7206C>G (p.Pro2402=)
c.11232C>G (p.Pro3744=)
c.6984C>G (p.Pro2328=)
c.10212C>G (p.Pro3404=)
8g.99868425C>TCA462339397VPS13Bc.*521C>T (n.*521C>T)
n.11497C>T
c.*7109C>T (n.*7109C>T)
c.11352C>T (p.Pro3784=)
c.11427C>T (p.Pro3809=)
n.369C>T
c.11424C>T (p.Pro3808=)
c.11349C>T (p.Pro3783=)
c.11049C>T (p.Pro3683=)
c.8313C>T (p.Pro2771=)
c.7206C>T (p.Pro2402=)
c.11232C>T (p.Pro3744=)
c.6984C>T (p.Pro2328=)
c.10212C>T (p.Pro3404=)
8g.99868426A>CCA371792305VPS13Bc.*522A>C (n.*522A>C)
n.11498A>C
c.*7110A>C (n.*7110A>C)
c.11353A>C (p.Ile3785Leu)
c.11428A>C (p.Ile3810Leu)
n.370A>C
c.11425A>C (p.Ile3809Leu)
c.11350A>C (p.Ile3784Leu)
c.11050A>C (p.Ile3684Leu)
c.8314A>C (p.Ile2772Leu)
c.7207A>C (p.Ile2403Leu)
c.11233A>C (p.Ile3745Leu)
c.6985A>C (p.Ile2329Leu)
c.10213A>C (p.Ile3405Leu)
8g.99868426A>GCA371792310VPS13Bc.*522A>G (n.*522A>G)
n.11498A>G
c.*7110A>G (n.*7110A>G)
c.11353A>G (p.Ile3785Val)
c.11428A>G (p.Ile3810Val)
n.370A>G
c.11425A>G (p.Ile3809Val)
c.11350A>G (p.Ile3784Val)
c.11050A>G (p.Ile3684Val)
c.8314A>G (p.Ile2772Val)
c.7207A>G (p.Ile2403Val)
c.11233A>G (p.Ile3745Val)
c.6985A>G (p.Ile2329Val)
c.10213A>G (p.Ile3405Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99868426A>TCA371792307VPS13Bc.*522A>T (n.*522A>T)
n.11498A>T
c.*7110A>T (n.*7110A>T)
c.11353A>T (p.Ile3785Phe)
c.11428A>T (p.Ile3810Phe)
n.370A>T
c.11425A>T (p.Ile3809Phe)
c.11350A>T (p.Ile3784Phe)
c.11050A>T (p.Ile3684Phe)
c.8314A>T (p.Ile2772Phe)
c.7207A>T (p.Ile2403Phe)
c.11233A>T (p.Ile3745Phe)
c.6985A>T (p.Ile2329Phe)
c.10213A>T (p.Ile3405Phe)
8g.99868427T>ACA371792312VPS13Bc.*523T>A (n.*523T>A)
n.11499T>A
c.*7111T>A (n.*7111T>A)
c.11354T>A (p.Ile3785Asn)
c.11429T>A (p.Ile3810Asn)
n.371T>A
c.11426T>A (p.Ile3809Asn)
c.11351T>A (p.Ile3784Asn)
c.11051T>A (p.Ile3684Asn)
c.8315T>A (p.Ile2772Asn)
c.7208T>A (p.Ile2403Asn)
c.11234T>A (p.Ile3745Asn)
c.6986T>A (p.Ile2329Asn)
c.10214T>A (p.Ile3405Asn)
8g.99868427T>CCA371792316VPS13Bc.*523T>C (n.*523T>C)
n.11499T>C
c.*7111T>C (n.*7111T>C)
c.11354T>C (p.Ile3785Thr)
c.11429T>C (p.Ile3810Thr)
n.371T>C
c.11426T>C (p.Ile3809Thr)
c.11351T>C (p.Ile3784Thr)
c.11051T>C (p.Ile3684Thr)
c.8315T>C (p.Ile2772Thr)
c.7208T>C (p.Ile2403Thr)
c.11234T>C (p.Ile3745Thr)
c.6986T>C (p.Ile2329Thr)
c.10214T>C (p.Ile3405Thr)
 gnomAD v4
8g.99868427T>GCA371792314VPS13Bc.*523T>G (n.*523T>G)
n.11499T>G
c.*7111T>G (n.*7111T>G)
c.11354T>G (p.Ile3785Ser)
c.11429T>G (p.Ile3810Ser)
n.371T>G
c.11426T>G (p.Ile3809Ser)
c.11351T>G (p.Ile3784Ser)
c.11051T>G (p.Ile3684Ser)
c.8315T>G (p.Ile2772Ser)
c.7208T>G (p.Ile2403Ser)
c.11234T>G (p.Ile3745Ser)
c.6986T>G (p.Ile2329Ser)
c.10214T>G (p.Ile3405Ser)
8g.99868428C>ACA462339401VPS13Bc.*524C>A (n.*524C>A)
n.11500C>A
c.*7112C>A (n.*7112C>A)
c.11355C>A (p.Ile3785=)
c.11430C>A (p.Ile3810=)
n.372C>A
c.11427C>A (p.Ile3809=)
c.11352C>A (p.Ile3784=)
c.11052C>A (p.Ile3684=)
c.8316C>A (p.Ile2772=)
c.7209C>A (p.Ile2403=)
c.11235C>A (p.Ile3745=)
c.6987C>A (p.Ile2329=)
c.10215C>A (p.Ile3405=)
 ClinVar
8g.99868428C>GCA371792320VPS13Bc.*524C>G (n.*524C>G)
n.11500C>G
c.*7112C>G (n.*7112C>G)
c.11355C>G (p.Ile3785Met)
c.11430C>G (p.Ile3810Met)
n.372C>G
c.11427C>G (p.Ile3809Met)
c.11352C>G (p.Ile3784Met)
c.11052C>G (p.Ile3684Met)
c.8316C>G (p.Ile2772Met)
c.7209C>G (p.Ile2403Met)
c.11235C>G (p.Ile3745Met)
c.6987C>G (p.Ile2329Met)
c.10215C>G (p.Ile3405Met)
 dbSNP gnomAD v2 gnomAD v4
8g.99868428C>TCA182328695VPS13Bc.*524C>T (n.*524C>T)
n.11500C>T
c.*7112C>T (n.*7112C>T)
c.11355C>T (p.Ile3785=)
c.11430C>T (p.Ile3810=)
n.372C>T
c.11427C>T (p.Ile3809=)
c.11352C>T (p.Ile3784=)
c.11052C>T (p.Ile3684=)
c.8316C>T (p.Ile2772=)
c.7209C>T (p.Ile2403=)
c.11235C>T (p.Ile3745=)
c.6987C>T (p.Ile2329=)
c.10215C>T (p.Ile3405=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99868429G>ACA4825213VPS13Bc.*525G>A (n.*525G>A)
n.11501G>A
c.*7113G>A (n.*7113G>A)
c.11356G>A (p.Gly3786Arg)
c.11431G>A (p.Gly3811Arg)
n.373G>A
c.11428G>A (p.Gly3810Arg)
c.11353G>A (p.Gly3785Arg)
c.11053G>A (p.Gly3685Arg)
c.8317G>A (p.Gly2773Arg)
c.7210G>A (p.Gly2404Arg)
c.11236G>A (p.Gly3746Arg)
c.6988G>A (p.Gly2330Arg)
c.10216G>A (p.Gly3406Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868429G>CCA371792326VPS13Bc.*525G>C (n.*525G>C)
n.11501G>C
c.*7113G>C (n.*7113G>C)
c.11356G>C (p.Gly3786Arg)
c.11431G>C (p.Gly3811Arg)
n.373G>C
c.11428G>C (p.Gly3810Arg)
c.11353G>C (p.Gly3785Arg)
c.11053G>C (p.Gly3685Arg)
c.8317G>C (p.Gly2773Arg)
c.7210G>C (p.Gly2404Arg)
c.11236G>C (p.Gly3746Arg)
c.6988G>C (p.Gly2330Arg)
c.10216G>C (p.Gly3406Arg)
8g.99868429G>TCA371792331VPS13Bc.*525G>T (n.*525G>T)
n.11501G>T
c.*7113G>T (n.*7113G>T)
c.11356G>T (p.Gly3786Ter)
c.11431G>T (p.Gly3811Ter)
n.373G>T
c.11428G>T (p.Gly3810Ter)
c.11353G>T (p.Gly3785Ter)
c.11053G>T (p.Gly3685Ter)
c.8317G>T (p.Gly2773Ter)
c.7210G>T (p.Gly2404Ter)
c.11236G>T (p.Gly3746Ter)
c.6988G>T (p.Gly2330Ter)
c.10216G>T (p.Gly3406Ter)
8g.99868430G>ACA371792345VPS13Bc.*526G>A (n.*526G>A)
n.11502G>A
c.*7114G>A (n.*7114G>A)
c.11357G>A (p.Gly3786Glu)
c.11432G>A (p.Gly3811Glu)
n.374G>A
c.11429G>A (p.Gly3810Glu)
c.11354G>A (p.Gly3785Glu)
c.11054G>A (p.Gly3685Glu)
c.8318G>A (p.Gly2773Glu)
c.7211G>A (p.Gly2404Glu)
c.11237G>A (p.Gly3746Glu)
c.6989G>A (p.Gly2330Glu)
c.10217G>A (p.Gly3406Glu)
8g.99868430G>CCA371792347VPS13Bc.*526G>C (n.*526G>C)
n.11502G>C
c.*7114G>C (n.*7114G>C)
c.11357G>C (p.Gly3786Ala)
c.11432G>C (p.Gly3811Ala)
n.374G>C
c.11429G>C (p.Gly3810Ala)
c.11354G>C (p.Gly3785Ala)
c.11054G>C (p.Gly3685Ala)
c.8318G>C (p.Gly2773Ala)
c.7211G>C (p.Gly2404Ala)
c.11237G>C (p.Gly3746Ala)
c.6989G>C (p.Gly2330Ala)
c.10217G>C (p.Gly3406Ala)
 dbSNP
8g.99868430G>TCA371792348VPS13Bc.*526G>T (n.*526G>T)
n.11502G>T
c.*7114G>T (n.*7114G>T)
c.11357G>T (p.Gly3786Val)
c.11432G>T (p.Gly3811Val)
n.374G>T
c.11429G>T (p.Gly3810Val)
c.11354G>T (p.Gly3785Val)
c.11054G>T (p.Gly3685Val)
c.8318G>T (p.Gly2773Val)
c.7211G>T (p.Gly2404Val)
c.11237G>T (p.Gly3746Val)
c.6989G>T (p.Gly2330Val)
c.10217G>T (p.Gly3406Val)
8g.99868431_99868432delCA913128149VPS13Bc.*527_*528del (n.*527_*528del)
n.11503_11504del
c.*7115_*7116del (n.*7115_*7116del)
c.11358_11359del (p.Gly3787SerfsTer3)
c.11433_11434del (p.Gly3812SerfsTer3)
n.375_376del
c.11430_11431del (p.Gly3811SerfsTer3)
c.11355_11356del (p.Gly3786SerfsTer3)
c.11055_11056del (p.Gly3686SerfsTer3)
c.8319_8320del (p.Gly2774SerfsTer3)
c.7212_7213del (p.Gly2405SerfsTer3)
c.11238_11239del (p.Gly3747SerfsTer3)
c.6990_6991del (p.Gly2331SerfsTer3)
c.10218_10219del (p.Gly3407SerfsTer3)
8g.99868431A>CCA462339405VPS13Bc.*527A>C (n.*527A>C)
n.11503A>C
c.*7115A>C (n.*7115A>C)
c.11358A>C (p.Gly3786=)
c.11433A>C (p.Gly3811=)
n.375A>C
c.11430A>C (p.Gly3810=)
c.11355A>C (p.Gly3785=)
c.11055A>C (p.Gly3685=)
c.8319A>C (p.Gly2773=)
c.7212A>C (p.Gly2404=)
c.11238A>C (p.Gly3746=)
c.6990A>C (p.Gly2330=)
c.10218A>C (p.Gly3406=)
8g.99868431A>GCA462339406VPS13Bc.*527A>G (n.*527A>G)
n.11503A>G
c.*7115A>G (n.*7115A>G)
c.11358A>G (p.Gly3786=)
c.11433A>G (p.Gly3811=)
n.375A>G
c.11430A>G (p.Gly3810=)
c.11355A>G (p.Gly3785=)
c.11055A>G (p.Gly3685=)
c.8319A>G (p.Gly2773=)
c.7212A>G (p.Gly2404=)
c.11238A>G (p.Gly3746=)
c.6990A>G (p.Gly2330=)
c.10218A>G (p.Gly3406=)
8g.99868431A>TCA462339407VPS13Bc.*527A>T (n.*527A>T)
n.11503A>T
c.*7115A>T (n.*7115A>T)
c.11358A>T (p.Gly3786=)
c.11433A>T (p.Gly3811=)
n.375A>T
c.11430A>T (p.Gly3810=)
c.11355A>T (p.Gly3785=)
c.11055A>T (p.Gly3685=)
c.8319A>T (p.Gly2773=)
c.7212A>T (p.Gly2404=)
c.11238A>T (p.Gly3746=)
c.6990A>T (p.Gly2330=)
c.10218A>T (p.Gly3406=)
8g.99868432G>ACA371792352VPS13Bc.*528G>A (n.*528G>A)
n.11504G>A
c.*7116G>A (n.*7116G>A)
c.11359G>A (p.Gly3787Arg)
c.11434G>A (p.Gly3812Arg)
n.376G>A
c.11431G>A (p.Gly3811Arg)
c.11356G>A (p.Gly3786Arg)
c.11056G>A (p.Gly3686Arg)
c.8320G>A (p.Gly2774Arg)
c.7213G>A (p.Gly2405Arg)
c.11239G>A (p.Gly3747Arg)
c.6991G>A (p.Gly2331Arg)
c.10219G>A (p.Gly3407Arg)
8g.99868432G>CCA371792355VPS13Bc.*528G>C (n.*528G>C)
n.11504G>C
c.*7116G>C (n.*7116G>C)
c.11359G>C (p.Gly3787Arg)
c.11434G>C (p.Gly3812Arg)
n.376G>C
c.11431G>C (p.Gly3811Arg)
c.11356G>C (p.Gly3786Arg)
c.11056G>C (p.Gly3686Arg)
c.8320G>C (p.Gly2774Arg)
c.7213G>C (p.Gly2405Arg)
c.11239G>C (p.Gly3747Arg)
c.6991G>C (p.Gly2331Arg)
c.10219G>C (p.Gly3407Arg)
8g.99868432G>TCA371792357VPS13Bc.*528G>T (n.*528G>T)
n.11504G>T
c.*7116G>T (n.*7116G>T)
c.11359G>T (p.Gly3787Ter)
c.11434G>T (p.Gly3812Ter)
n.376G>T
c.11431G>T (p.Gly3811Ter)
c.11356G>T (p.Gly3786Ter)
c.11056G>T (p.Gly3686Ter)
c.8320G>T (p.Gly2774Ter)
c.7213G>T (p.Gly2405Ter)
c.11239G>T (p.Gly3747Ter)
c.6991G>T (p.Gly2331Ter)
c.10219G>T (p.Gly3407Ter)
8g.99868433delCA658821919VPS13Bc.*529del (n.*529del)
n.11505del
c.*7117del (n.*7117del)
c.11360del (p.Gly3787GlufsTer?)
c.11435del (p.Gly3812GlufsTer?)
n.377del
c.11432del (p.Gly3811GlufsTer?)
c.11357del (p.Gly3786GlufsTer?)
c.11057del (p.Gly3686GlufsTer?)
c.8321del (p.Gly2774GlufsTer?)
c.7214del (p.Gly2405GlufsTer?)
c.11240del (p.Gly3747GlufsTer?)
c.6992del (p.Gly2331GlufsTer?)
c.10220del (p.Gly3407GlufsTer?)
 ClinVar dbSNP
8g.99868433G>ACA182328697VPS13Bc.*529G>A (n.*529G>A)
n.11505G>A
c.*7117G>A (n.*7117G>A)
c.11360G>A (p.Gly3787Glu)
c.11435G>A (p.Gly3812Glu)
n.377G>A
c.11432G>A (p.Gly3811Glu)
c.11357G>A (p.Gly3786Glu)
c.11057G>A (p.Gly3686Glu)
c.8321G>A (p.Gly2774Glu)
c.7214G>A (p.Gly2405Glu)
c.11240G>A (p.Gly3747Glu)
c.6992G>A (p.Gly2331Glu)
c.10220G>A (p.Gly3407Glu)
 ClinVar dbSNP COSMIC COSMIC
8g.99868433G>CCA371792360VPS13Bc.*529G>C (n.*529G>C)
n.11505G>C
c.*7117G>C (n.*7117G>C)
c.11360G>C (p.Gly3787Ala)
c.11435G>C (p.Gly3812Ala)
n.377G>C
c.11432G>C (p.Gly3811Ala)
c.11357G>C (p.Gly3786Ala)
c.11057G>C (p.Gly3686Ala)
c.8321G>C (p.Gly2774Ala)
c.7214G>C (p.Gly2405Ala)
c.11240G>C (p.Gly3747Ala)
c.6992G>C (p.Gly2331Ala)
c.10220G>C (p.Gly3407Ala)
8g.99868433G>TCA371792359VPS13Bc.*529G>T (n.*529G>T)
n.11505G>T
c.*7117G>T (n.*7117G>T)
c.11360G>T (p.Gly3787Val)
c.11435G>T (p.Gly3812Val)
n.377G>T
c.11432G>T (p.Gly3811Val)
c.11357G>T (p.Gly3786Val)
c.11057G>T (p.Gly3686Val)
c.8321G>T (p.Gly2774Val)
c.7214G>T (p.Gly2405Val)
c.11240G>T (p.Gly3747Val)
c.6992G>T (p.Gly2331Val)
c.10220G>T (p.Gly3407Val)
8g.99868434A>CCA462339409VPS13Bc.*530A>C (n.*530A>C)
n.11506A>C
c.*7118A>C (n.*7118A>C)
c.11361A>C (p.Gly3787=)
c.11436A>C (p.Gly3812=)
n.378A>C
c.11433A>C (p.Gly3811=)
c.11358A>C (p.Gly3786=)
c.11058A>C (p.Gly3686=)
c.8322A>C (p.Gly2774=)
c.7215A>C (p.Gly2405=)
c.11241A>C (p.Gly3747=)
c.6993A>C (p.Gly2331=)
c.10221A>C (p.Gly3407=)
 gnomAD v4
8g.99868434A>GCA462339410VPS13Bc.*530A>G (n.*530A>G)
n.11506A>G
c.*7118A>G (n.*7118A>G)
c.11361A>G (p.Gly3787=)
c.11436A>G (p.Gly3812=)
n.378A>G
c.11433A>G (p.Gly3811=)
c.11358A>G (p.Gly3786=)
c.11058A>G (p.Gly3686=)
c.8322A>G (p.Gly2774=)
c.7215A>G (p.Gly2405=)
c.11241A>G (p.Gly3747=)
c.6993A>G (p.Gly2331=)
c.10221A>G (p.Gly3407=)
 dbSNP gnomAD v3 gnomAD v4
8g.99868434A>TCA462339411VPS13Bc.*530A>T (n.*530A>T)
n.11506A>T
c.*7118A>T (n.*7118A>T)
c.11361A>T (p.Gly3787=)
c.11436A>T (p.Gly3812=)
n.378A>T
c.11433A>T (p.Gly3811=)
c.11358A>T (p.Gly3786=)
c.11058A>T (p.Gly3686=)
c.8322A>T (p.Gly2774=)
c.7215A>T (p.Gly2405=)
c.11241A>T (p.Gly3747=)
c.6993A>T (p.Gly2331=)
c.10221A>T (p.Gly3407=)
8g.99868435G>ACA4825214VPS13Bc.*531G>A (n.*531G>A)
n.11507G>A
c.*7119G>A (n.*7119G>A)
c.11362G>A (p.Ala3788Thr)
c.11437G>A (p.Ala3813Thr)
n.379G>A
c.11434G>A (p.Ala3812Thr)
c.11359G>A (p.Ala3787Thr)
c.11059G>A (p.Ala3687Thr)
c.8323G>A (p.Ala2775Thr)
c.7216G>A (p.Ala2406Thr)
c.11242G>A (p.Ala3748Thr)
c.6994G>A (p.Ala2332Thr)
c.10222G>A (p.Ala3408Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868435G>CCA371792366VPS13Bc.*531G>C (n.*531G>C)
n.11507G>C
c.*7119G>C (n.*7119G>C)
c.11362G>C (p.Ala3788Pro)
c.11437G>C (p.Ala3813Pro)
n.379G>C
c.11434G>C (p.Ala3812Pro)
c.11359G>C (p.Ala3787Pro)
c.11059G>C (p.Ala3687Pro)
c.8323G>C (p.Ala2775Pro)
c.7216G>C (p.Ala2406Pro)
c.11242G>C (p.Ala3748Pro)
c.6994G>C (p.Ala2332Pro)
c.10222G>C (p.Ala3408Pro)
8g.99868435G>TCA371792368VPS13Bc.*531G>T (n.*531G>T)
n.11507G>T
c.*7119G>T (n.*7119G>T)
c.11362G>T (p.Ala3788Ser)
c.11437G>T (p.Ala3813Ser)
n.379G>T
c.11434G>T (p.Ala3812Ser)
c.11359G>T (p.Ala3787Ser)
c.11059G>T (p.Ala3687Ser)
c.8323G>T (p.Ala2775Ser)
c.7216G>T (p.Ala2406Ser)
c.11242G>T (p.Ala3748Ser)
c.6994G>T (p.Ala2332Ser)
c.10222G>T (p.Ala3408Ser)
8g.99868436C>ACA371792371VPS13Bc.*532C>A (n.*532C>A)
n.11508C>A
c.*7120C>A (n.*7120C>A)
c.11363C>A (p.Ala3788Asp)
c.11438C>A (p.Ala3813Asp)
n.380C>A
c.11435C>A (p.Ala3812Asp)
c.11360C>A (p.Ala3787Asp)
c.11060C>A (p.Ala3687Asp)
c.8324C>A (p.Ala2775Asp)
c.7217C>A (p.Ala2406Asp)
c.11243C>A (p.Ala3748Asp)
c.6995C>A (p.Ala2332Asp)
c.10223C>A (p.Ala3408Asp)
8g.99868436C>GCA371792373VPS13Bc.*532C>G (n.*532C>G)
n.11508C>G
c.*7120C>G (n.*7120C>G)
c.11363C>G (p.Ala3788Gly)
c.11438C>G (p.Ala3813Gly)
n.380C>G
c.11435C>G (p.Ala3812Gly)
c.11360C>G (p.Ala3787Gly)
c.11060C>G (p.Ala3687Gly)
c.8324C>G (p.Ala2775Gly)
c.7217C>G (p.Ala2406Gly)
c.11243C>G (p.Ala3748Gly)
c.6995C>G (p.Ala2332Gly)
c.10223C>G (p.Ala3408Gly)
8g.99868436C>TCA371792374VPS13Bc.*532C>T (n.*532C>T)
n.11508C>T
c.*7120C>T (n.*7120C>T)
c.11363C>T (p.Ala3788Val)
c.11438C>T (p.Ala3813Val)
n.380C>T
c.11435C>T (p.Ala3812Val)
c.11360C>T (p.Ala3787Val)
c.11060C>T (p.Ala3687Val)
c.8324C>T (p.Ala2775Val)
c.7217C>T (p.Ala2406Val)
c.11243C>T (p.Ala3748Val)
c.6995C>T (p.Ala2332Val)
c.10223C>T (p.Ala3408Val)
 gnomAD v4
8g.99868437delCA857608643VPS13Bc.*533del (n.*533del)
n.11509del
c.*7121del (n.*7121del)
c.11364del (p.Ala3789LeufsTer?)
c.11439del (p.Ala3814LeufsTer?)
n.381del
c.11436del (p.Ala3813LeufsTer?)
c.11361del (p.Ala3788LeufsTer?)
c.11061del (p.Ala3688LeufsTer?)
c.8325del (p.Ala2776LeufsTer?)
c.7218del (p.Ala2407LeufsTer?)
c.11244del (p.Ala3749LeufsTer?)
c.6996del (p.Ala2333LeufsTer?)
c.10224del (p.Ala3409LeufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99868437T>ACA462339415VPS13Bc.*533T>A (n.*533T>A)
n.11509T>A
c.*7121T>A (n.*7121T>A)
c.11364T>A (p.Ala3788=)
c.11439T>A (p.Ala3813=)
n.381T>A
c.11436T>A (p.Ala3812=)
c.11361T>A (p.Ala3787=)
c.11061T>A (p.Ala3687=)
c.8325T>A (p.Ala2775=)
c.7218T>A (p.Ala2406=)
c.11244T>A (p.Ala3748=)
c.6996T>A (p.Ala2332=)
c.10224T>A (p.Ala3408=)
8g.99868437T>CCA462339414VPS13Bc.*533T>C (n.*533T>C)
n.11509T>C
c.*7121T>C (n.*7121T>C)
c.11364T>C (p.Ala3788=)
c.11439T>C (p.Ala3813=)
n.381T>C
c.11436T>C (p.Ala3812=)
c.11361T>C (p.Ala3787=)
c.11061T>C (p.Ala3687=)
c.8325T>C (p.Ala2775=)
c.7218T>C (p.Ala2406=)
c.11244T>C (p.Ala3748=)
c.6996T>C (p.Ala2332=)
c.10224T>C (p.Ala3408=)
8g.99868437T>GCA462339413VPS13Bc.*533T>G (n.*533T>G)
n.11509T>G
c.*7121T>G (n.*7121T>G)
c.11364T>G (p.Ala3788=)
c.11439T>G (p.Ala3813=)
n.381T>G
c.11436T>G (p.Ala3812=)
c.11361T>G (p.Ala3787=)
c.11061T>G (p.Ala3687=)
c.8325T>G (p.Ala2775=)
c.7218T>G (p.Ala2406=)
c.11244T>G (p.Ala3748=)
c.6996T>G (p.Ala2332=)
c.10224T>G (p.Ala3408=)
 ClinVar dbSNP gnomAD v4
8g.99868438G>ACA371792376VPS13Bc.*534G>A (n.*534G>A)
n.11510G>A
c.*7122G>A (n.*7122G>A)
c.11365G>A (p.Ala3789Thr)
c.11440G>A (p.Ala3814Thr)
n.382G>A
c.11437G>A (p.Ala3813Thr)
c.11362G>A (p.Ala3788Thr)
c.11062G>A (p.Ala3688Thr)
c.8326G>A (p.Ala2776Thr)
c.7219G>A (p.Ala2407Thr)
c.11245G>A (p.Ala3749Thr)
c.6997G>A (p.Ala2333Thr)
c.10225G>A (p.Ala3409Thr)
8g.99868438G>CCA371792378VPS13Bc.*534G>C (n.*534G>C)
n.11510G>C
c.*7122G>C (n.*7122G>C)
c.11365G>C (p.Ala3789Pro)
c.11440G>C (p.Ala3814Pro)
n.382G>C
c.11437G>C (p.Ala3813Pro)
c.11362G>C (p.Ala3788Pro)
c.11062G>C (p.Ala3688Pro)
c.8326G>C (p.Ala2776Pro)
c.7219G>C (p.Ala2407Pro)
c.11245G>C (p.Ala3749Pro)
c.6997G>C (p.Ala2333Pro)
c.10225G>C (p.Ala3409Pro)
8g.99868438G>TCA371792379VPS13Bc.*534G>T (n.*534G>T)
n.11510G>T
c.*7122G>T (n.*7122G>T)
c.11365G>T (p.Ala3789Ser)
c.11440G>T (p.Ala3814Ser)
n.382G>T
c.11437G>T (p.Ala3813Ser)
c.11362G>T (p.Ala3788Ser)
c.11062G>T (p.Ala3688Ser)
c.8326G>T (p.Ala2776Ser)
c.7219G>T (p.Ala2407Ser)
c.11245G>T (p.Ala3749Ser)
c.6997G>T (p.Ala2333Ser)
c.10225G>T (p.Ala3409Ser)
8g.99868439C>ACA371792382VPS13Bc.*535C>A (n.*535C>A)
n.11511C>A
c.*7123C>A (n.*7123C>A)
c.11366C>A (p.Ala3789Asp)
c.11441C>A (p.Ala3814Asp)
n.383C>A
c.11438C>A (p.Ala3813Asp)
c.11363C>A (p.Ala3788Asp)
c.11063C>A (p.Ala3688Asp)
c.8327C>A (p.Ala2776Asp)
c.7220C>A (p.Ala2407Asp)
c.11246C>A (p.Ala3749Asp)
c.6998C>A (p.Ala2333Asp)
c.10226C>A (p.Ala3409Asp)
8g.99868439C>GCA371792384VPS13Bc.*535C>G (n.*535C>G)
n.11511C>G
c.*7123C>G (n.*7123C>G)
c.11366C>G (p.Ala3789Gly)
c.11441C>G (p.Ala3814Gly)
n.383C>G
c.11438C>G (p.Ala3813Gly)
c.11363C>G (p.Ala3788Gly)
c.11063C>G (p.Ala3688Gly)
c.8327C>G (p.Ala2776Gly)
c.7220C>G (p.Ala2407Gly)
c.11246C>G (p.Ala3749Gly)
c.6998C>G (p.Ala2333Gly)
c.10226C>G (p.Ala3409Gly)
8g.99868439C>TCA371792387VPS13Bc.*535C>T (n.*535C>T)
n.11511C>T
c.*7123C>T (n.*7123C>T)
c.11366C>T (p.Ala3789Val)
c.11441C>T (p.Ala3814Val)
n.383C>T
c.11438C>T (p.Ala3813Val)
c.11363C>T (p.Ala3788Val)
c.11063C>T (p.Ala3688Val)
c.8327C>T (p.Ala2776Val)
c.7220C>T (p.Ala2407Val)
c.11246C>T (p.Ala3749Val)
c.6998C>T (p.Ala2333Val)
c.10226C>T (p.Ala3409Val)
8g.99868440T>ACA462339417VPS13Bc.*536T>A (n.*536T>A)
n.11512T>A
c.*7124T>A (n.*7124T>A)
c.11367T>A (p.Ala3789=)
c.11442T>A (p.Ala3814=)
n.384T>A
c.11439T>A (p.Ala3813=)
c.11364T>A (p.Ala3788=)
c.11064T>A (p.Ala3688=)
c.8328T>A (p.Ala2776=)
c.7221T>A (p.Ala2407=)
c.11247T>A (p.Ala3749=)
c.6999T>A (p.Ala2333=)
c.10227T>A (p.Ala3409=)
8g.99868440T>CCA4825215VPS13Bc.*536T>C (n.*536T>C)
n.11512T>C
c.*7124T>C (n.*7124T>C)
c.11367T>C (p.Ala3789=)
c.11442T>C (p.Ala3814=)
n.384T>C
c.11439T>C (p.Ala3813=)
c.11364T>C (p.Ala3788=)
c.11064T>C (p.Ala3688=)
c.8328T>C (p.Ala2776=)
c.7221T>C (p.Ala2407=)
c.11247T>C (p.Ala3749=)
c.6999T>C (p.Ala2333=)
c.10227T>C (p.Ala3409=)
 dbSNP ExAC gnomAD v2
8g.99868440T>GCA462339418VPS13Bc.*536T>G (n.*536T>G)
n.11512T>G
c.*7124T>G (n.*7124T>G)
c.11367T>G (p.Ala3789=)
c.11442T>G (p.Ala3814=)
n.384T>G
c.11439T>G (p.Ala3813=)
c.11364T>G (p.Ala3788=)
c.11064T>G (p.Ala3688=)
c.8328T>G (p.Ala2776=)
c.7221T>G (p.Ala2407=)
c.11247T>G (p.Ala3749=)
c.6999T>G (p.Ala2333=)
c.10227T>G (p.Ala3409=)
8g.99868441G>ACA371792400VPS13Bc.*537G>A (n.*537G>A)
n.11513G>A
c.*7125G>A (n.*7125G>A)
c.11368G>A (p.Glu3790Lys)
c.11443G>A (p.Glu3815Lys)
n.385G>A
c.11440G>A (p.Glu3814Lys)
c.11365G>A (p.Glu3789Lys)
c.11065G>A (p.Glu3689Lys)
c.8329G>A (p.Glu2777Lys)
c.7222G>A (p.Glu2408Lys)
c.11248G>A (p.Glu3750Lys)
c.7000G>A (p.Glu2334Lys)
c.10228G>A (p.Glu3410Lys)
8g.99868441G>CCA371792395VPS13Bc.*537G>C (n.*537G>C)
n.11513G>C
c.*7125G>C (n.*7125G>C)
c.11368G>C (p.Glu3790Gln)
c.11443G>C (p.Glu3815Gln)
n.385G>C
c.11440G>C (p.Glu3814Gln)
c.11365G>C (p.Glu3789Gln)
c.11065G>C (p.Glu3689Gln)
c.8329G>C (p.Glu2777Gln)
c.7222G>C (p.Glu2408Gln)
c.11248G>C (p.Glu3750Gln)
c.7000G>C (p.Glu2334Gln)
c.10228G>C (p.Glu3410Gln)
8g.99868441G>TCA371792397VPS13Bc.*537G>T (n.*537G>T)
n.11513G>T
c.*7125G>T (n.*7125G>T)
c.11368G>T (p.Glu3790Ter)
c.11443G>T (p.Glu3815Ter)
n.385G>T
c.11440G>T (p.Glu3814Ter)
c.11365G>T (p.Glu3789Ter)
c.11065G>T (p.Glu3689Ter)
c.8329G>T (p.Glu2777Ter)
c.7222G>T (p.Glu2408Ter)
c.11248G>T (p.Glu3750Ter)
c.7000G>T (p.Glu2334Ter)
c.10228G>T (p.Glu3410Ter)
 gnomAD v4
8g.99868442A>CCA371792402VPS13Bc.*538A>C (n.*538A>C)
n.11514A>C
c.*7126A>C (n.*7126A>C)
c.11369A>C (p.Glu3790Ala)
c.11444A>C (p.Glu3815Ala)
n.386A>C
c.11441A>C (p.Glu3814Ala)
c.11366A>C (p.Glu3789Ala)
c.11066A>C (p.Glu3689Ala)
c.8330A>C (p.Glu2777Ala)
c.7223A>C (p.Glu2408Ala)
c.11249A>C (p.Glu3750Ala)
c.7001A>C (p.Glu2334Ala)
c.10229A>C (p.Glu3410Ala)
8g.99868442A>GCA371792404VPS13Bc.*538A>G (n.*538A>G)
n.11514A>G
c.*7126A>G (n.*7126A>G)
c.11369A>G (p.Glu3790Gly)
c.11444A>G (p.Glu3815Gly)
n.386A>G
c.11441A>G (p.Glu3814Gly)
c.11366A>G (p.Glu3789Gly)
c.11066A>G (p.Glu3689Gly)
c.8330A>G (p.Glu2777Gly)
c.7223A>G (p.Glu2408Gly)
c.11249A>G (p.Glu3750Gly)
c.7001A>G (p.Glu2334Gly)
c.10229A>G (p.Glu3410Gly)
 gnomAD v4
8g.99868442A>TCA371792406VPS13Bc.*538A>T (n.*538A>T)
n.11514A>T
c.*7126A>T (n.*7126A>T)
c.11369A>T (p.Glu3790Val)
c.11444A>T (p.Glu3815Val)
n.386A>T
c.11441A>T (p.Glu3814Val)
c.11366A>T (p.Glu3789Val)
c.11066A>T (p.Glu3689Val)
c.8330A>T (p.Glu2777Val)
c.7223A>T (p.Glu2408Val)
c.11249A>T (p.Glu3750Val)
c.7001A>T (p.Glu2334Val)
c.10229A>T (p.Glu3410Val)
8g.99868443G>ACA462339422VPS13Bc.*539G>A (n.*539G>A)
n.11515G>A
c.*7127G>A (n.*7127G>A)
c.11370G>A (p.Glu3790=)
c.11445G>A (p.Glu3815=)
n.387G>A
c.11442G>A (p.Glu3814=)
c.11367G>A (p.Glu3789=)
c.11067G>A (p.Glu3689=)
c.8331G>A (p.Glu2777=)
c.7224G>A (p.Glu2408=)
c.11250G>A (p.Glu3750=)
c.7002G>A (p.Glu2334=)
c.10230G>A (p.Glu3410=)
8g.99868443G>CCA371792408VPS13Bc.*539G>C (n.*539G>C)
n.11515G>C
c.*7127G>C (n.*7127G>C)
c.11370G>C (p.Glu3790Asp)
c.11445G>C (p.Glu3815Asp)
n.387G>C
c.11442G>C (p.Glu3814Asp)
c.11367G>C (p.Glu3789Asp)
c.11067G>C (p.Glu3689Asp)
c.8331G>C (p.Glu2777Asp)
c.7224G>C (p.Glu2408Asp)
c.11250G>C (p.Glu3750Asp)
c.7002G>C (p.Glu2334Asp)
c.10230G>C (p.Glu3410Asp)
8g.99868443G>TCA371792412VPS13Bc.*539G>T (n.*539G>T)
n.11515G>T
c.*7127G>T (n.*7127G>T)
c.11370G>T (p.Glu3790Asp)
c.11445G>T (p.Glu3815Asp)
n.387G>T
c.11442G>T (p.Glu3814Asp)
c.11367G>T (p.Glu3789Asp)
c.11067G>T (p.Glu3689Asp)
c.8331G>T (p.Glu2777Asp)
c.7224G>T (p.Glu2408Asp)
c.11250G>T (p.Glu3750Asp)
c.7002G>T (p.Glu2334Asp)
c.10230G>T (p.Glu3410Asp)
8g.99868444C>ACA371792415VPS13Bc.*540C>A (n.*540C>A)
n.11516C>A
c.*7128C>A (n.*7128C>A)
c.11371C>A (p.Leu3791Met)
c.11446C>A (p.Leu3816Met)
n.388C>A
c.11443C>A (p.Leu3815Met)
c.11368C>A (p.Leu3790Met)
c.11068C>A (p.Leu3690Met)
c.8332C>A (p.Leu2778Met)
c.7225C>A (p.Leu2409Met)
c.11251C>A (p.Leu3751Met)
c.7003C>A (p.Leu2335Met)
c.10231C>A (p.Leu3411Met)
8g.99868444C>GCA371792417VPS13Bc.*540C>G (n.*540C>G)
n.11516C>G
c.*7128C>G (n.*7128C>G)
c.11371C>G (p.Leu3791Val)
c.11446C>G (p.Leu3816Val)
n.388C>G
c.11443C>G (p.Leu3815Val)
c.11368C>G (p.Leu3790Val)
c.11068C>G (p.Leu3690Val)
c.8332C>G (p.Leu2778Val)
c.7225C>G (p.Leu2409Val)
c.11251C>G (p.Leu3751Val)
c.7003C>G (p.Leu2335Val)
c.10231C>G (p.Leu3411Val)
8g.99868444C>TCA462339423VPS13Bc.*540C>T (n.*540C>T)
n.11516C>T
c.*7128C>T (n.*7128C>T)
c.11371C>T (p.Leu3791=)
c.11446C>T (p.Leu3816=)
n.388C>T
c.11443C>T (p.Leu3815=)
c.11368C>T (p.Leu3790=)
c.11068C>T (p.Leu3690=)
c.8332C>T (p.Leu2778=)
c.7225C>T (p.Leu2409=)
c.11251C>T (p.Leu3751=)
c.7003C>T (p.Leu2335=)
c.10231C>T (p.Leu3411=)
 ClinVar dbSNP gnomAD v4
8g.99868445T>ACA371792420VPS13Bc.*541T>A (n.*541T>A)
n.11517T>A
c.*7129T>A (n.*7129T>A)
c.11372T>A (p.Leu3791Gln)
c.11447T>A (p.Leu3816Gln)
n.389T>A
c.11444T>A (p.Leu3815Gln)
c.11369T>A (p.Leu3790Gln)
c.11069T>A (p.Leu3690Gln)
c.8333T>A (p.Leu2778Gln)
c.7226T>A (p.Leu2409Gln)
c.11252T>A (p.Leu3751Gln)
c.7004T>A (p.Leu2335Gln)
c.10232T>A (p.Leu3411Gln)
 gnomAD v4
8g.99868445T>CCA371792422VPS13Bc.*541T>C (n.*541T>C)
n.11517T>C
c.*7129T>C (n.*7129T>C)
c.11372T>C (p.Leu3791Pro)
c.11447T>C (p.Leu3816Pro)
n.389T>C
c.11444T>C (p.Leu3815Pro)
c.11369T>C (p.Leu3790Pro)
c.11069T>C (p.Leu3690Pro)
c.8333T>C (p.Leu2778Pro)
c.7226T>C (p.Leu2409Pro)
c.11252T>C (p.Leu3751Pro)
c.7004T>C (p.Leu2335Pro)
c.10232T>C (p.Leu3411Pro)
8g.99868445T>GCA371792424VPS13Bc.*541T>G (n.*541T>G)
n.11517T>G
c.*7129T>G (n.*7129T>G)
c.11372T>G (p.Leu3791Arg)
c.11447T>G (p.Leu3816Arg)
n.389T>G
c.11444T>G (p.Leu3815Arg)
c.11369T>G (p.Leu3790Arg)
c.11069T>G (p.Leu3690Arg)
c.8333T>G (p.Leu2778Arg)
c.7226T>G (p.Leu2409Arg)
c.11252T>G (p.Leu3751Arg)
c.7004T>G (p.Leu2335Arg)
c.10232T>G (p.Leu3411Arg)
8g.99868447_99868449dupCA2579216443VPS13Bc.*543_*545dup (n.*543_*545dup)
n.11519_11521dup
c.*7131_*7133dup (n.*7131_*7133dup)
c.11374_11376dup (p.Val3792_Ser3793insVal)
c.11449_11451dup (p.Val3817_Ser3818insVal)
n.391_393dup
c.11446_11448dup (p.Val3816_Ser3817insVal)
c.11371_11373dup (p.Val3791_Ser3792insVal)
c.11071_11073dup (p.Val3691_Ser3692insVal)
c.8335_8337dup (p.Val2779_Ser2780insVal)
c.7228_7230dup (p.Val2410_Ser2411insVal)
c.11254_11256dup (p.Val3752_Ser3753insVal)
c.7006_7008dup (p.Val2336_Ser2337insVal)
c.10234_10236dup (p.Val3412_Ser3413insVal)
8g.99868445_99868446insACACCA2781481379VPS13Bc.*541_*542insACAC (n.*541_*542insACAC)
n.11517_11518insACAC
c.*7129_*7130insACAC (n.*7129_*7130insACAC)
c.11372_11373insACAC (p.Val3792HisfsTer27)
c.11447_11448insACAC (p.Val3817HisfsTer27)
n.389_390insACAC
c.11444_11445insACAC (p.Val3816HisfsTer27)
c.11369_11370insACAC (p.Val3791HisfsTer27)
c.11069_11070insACAC (p.Val3691HisfsTer27)
c.8333_8334insACAC (p.Val2779HisfsTer27)
c.7226_7227insACAC (p.Val2410HisfsTer27)
c.11252_11253insACAC (p.Val3752HisfsTer27)
c.7004_7005insACAC (p.Val2336HisfsTer27)
c.10232_10233insACAC (p.Val3412HisfsTer27)
8g.99868446G>ACA462339426VPS13Bc.*542G>A (n.*542G>A)
n.11518G>A
c.*7130G>A (n.*7130G>A)
c.11373G>A (p.Leu3791=)
c.11448G>A (p.Leu3816=)
n.390G>A
c.11445G>A (p.Leu3815=)
c.11370G>A (p.Leu3790=)
c.11070G>A (p.Leu3690=)
c.8334G>A (p.Leu2778=)
c.7227G>A (p.Leu2409=)
c.11253G>A (p.Leu3751=)
c.7005G>A (p.Leu2335=)
c.10233G>A (p.Leu3411=)
8g.99868446G>CCA462339427VPS13Bc.*542G>C (n.*542G>C)
n.11518G>C
c.*7130G>C (n.*7130G>C)
c.11373G>C (p.Leu3791=)
c.11448G>C (p.Leu3816=)
n.390G>C
c.11445G>C (p.Leu3815=)
c.11370G>C (p.Leu3790=)
c.11070G>C (p.Leu3690=)
c.8334G>C (p.Leu2778=)
c.7227G>C (p.Leu2409=)
c.11253G>C (p.Leu3751=)
c.7005G>C (p.Leu2335=)
c.10233G>C (p.Leu3411=)
8g.99868446G>TCA462339428VPS13Bc.*542G>T (n.*542G>T)
n.11518G>T
c.*7130G>T (n.*7130G>T)
c.11373G>T (p.Leu3791=)
c.11448G>T (p.Leu3816=)
n.390G>T
c.11445G>T (p.Leu3815=)
c.11370G>T (p.Leu3790=)
c.11070G>T (p.Leu3690=)
c.8334G>T (p.Leu2778=)
c.7227G>T (p.Leu2409=)
c.11253G>T (p.Leu3751=)
c.7005G>T (p.Leu2335=)
c.10233G>T (p.Leu3411=)
8g.99868447G>ACA4825216VPS13Bc.*543G>A (n.*543G>A)
n.11519G>A
c.*7131G>A (n.*7131G>A)
c.11374G>A (p.Val3792Met)
c.11449G>A (p.Val3817Met)
n.391G>A
c.11446G>A (p.Val3816Met)
c.11371G>A (p.Val3791Met)
c.11071G>A (p.Val3691Met)
c.8335G>A (p.Val2779Met)
c.7228G>A (p.Val2410Met)
c.11254G>A (p.Val3752Met)
c.7006G>A (p.Val2336Met)
c.10234G>A (p.Val3412Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868447G>CCA371792427VPS13Bc.*543G>C (n.*543G>C)
n.11519G>C
c.*7131G>C (n.*7131G>C)
c.11374G>C (p.Val3792Leu)
c.11449G>C (p.Val3817Leu)
n.391G>C
c.11446G>C (p.Val3816Leu)
c.11371G>C (p.Val3791Leu)
c.11071G>C (p.Val3691Leu)
c.8335G>C (p.Val2779Leu)
c.7228G>C (p.Val2410Leu)
c.11254G>C (p.Val3752Leu)
c.7006G>C (p.Val2336Leu)
c.10234G>C (p.Val3412Leu)
8g.99868447G>TCA371792430VPS13Bc.*543G>T (n.*543G>T)
n.11519G>T
c.*7131G>T (n.*7131G>T)
c.11374G>T (p.Val3792Leu)
c.11449G>T (p.Val3817Leu)
n.391G>T
c.11446G>T (p.Val3816Leu)
c.11371G>T (p.Val3791Leu)
c.11071G>T (p.Val3691Leu)
c.8335G>T (p.Val2779Leu)
c.7228G>T (p.Val2410Leu)
c.11254G>T (p.Val3752Leu)
c.7006G>T (p.Val2336Leu)
c.10234G>T (p.Val3412Leu)
8g.99868448T>ACA371792435VPS13Bc.*544T>A (n.*544T>A)
n.11520T>A
c.*7132T>A (n.*7132T>A)
c.11375T>A (p.Val3792Glu)
c.11450T>A (p.Val3817Glu)
n.392T>A
c.11447T>A (p.Val3816Glu)
c.11372T>A (p.Val3791Glu)
c.11072T>A (p.Val3691Glu)
c.8336T>A (p.Val2779Glu)
c.7229T>A (p.Val2410Glu)
c.11255T>A (p.Val3752Glu)
c.7007T>A (p.Val2336Glu)
c.10235T>A (p.Val3412Glu)
8g.99868448T>CCA371792438VPS13Bc.*544T>C (n.*544T>C)
n.11520T>C
c.*7132T>C (n.*7132T>C)
c.11375T>C (p.Val3792Ala)
c.11450T>C (p.Val3817Ala)
n.392T>C
c.11447T>C (p.Val3816Ala)
c.11372T>C (p.Val3791Ala)
c.11072T>C (p.Val3691Ala)
c.8336T>C (p.Val2779Ala)
c.7229T>C (p.Val2410Ala)
c.11255T>C (p.Val3752Ala)
c.7007T>C (p.Val2336Ala)
c.10235T>C (p.Val3412Ala)
 gnomAD v4
8g.99868448T>GCA371792440VPS13Bc.*544T>G (n.*544T>G)
n.11520T>G
c.*7132T>G (n.*7132T>G)
c.11375T>G (p.Val3792Gly)
c.11450T>G (p.Val3817Gly)
n.392T>G
c.11447T>G (p.Val3816Gly)
c.11372T>G (p.Val3791Gly)
c.11072T>G (p.Val3691Gly)
c.8336T>G (p.Val2779Gly)
c.7229T>G (p.Val2410Gly)
c.11255T>G (p.Val3752Gly)
c.7007T>G (p.Val2336Gly)
c.10235T>G (p.Val3412Gly)
8g.99868449G>ACA462339431VPS13Bc.*545G>A (n.*545G>A)
n.11521G>A
c.*7133G>A (n.*7133G>A)
c.11376G>A (p.Val3792=)
c.11451G>A (p.Val3817=)
n.393G>A
c.11448G>A (p.Val3816=)
c.11373G>A (p.Val3791=)
c.11073G>A (p.Val3691=)
c.8337G>A (p.Val2779=)
c.7230G>A (p.Val2410=)
c.11256G>A (p.Val3752=)
c.7008G>A (p.Val2336=)
c.10236G>A (p.Val3412=)
 COSMIC COSMIC
8g.99868449G>CCA462339432VPS13Bc.*545G>C (n.*545G>C)
n.11521G>C
c.*7133G>C (n.*7133G>C)
c.11376G>C (p.Val3792=)
c.11451G>C (p.Val3817=)
n.393G>C
c.11448G>C (p.Val3816=)
c.11373G>C (p.Val3791=)
c.11073G>C (p.Val3691=)
c.8337G>C (p.Val2779=)
c.7230G>C (p.Val2410=)
c.11256G>C (p.Val3752=)
c.7008G>C (p.Val2336=)
c.10236G>C (p.Val3412=)
8g.99868449G>TCA462339430VPS13Bc.*545G>T (n.*545G>T)
n.11521G>T
c.*7133G>T (n.*7133G>T)
c.11376G>T (p.Val3792=)
c.11451G>T (p.Val3817=)
n.393G>T
c.11448G>T (p.Val3816=)
c.11373G>T (p.Val3791=)
c.11073G>T (p.Val3691=)
c.8337G>T (p.Val2779=)
c.7230G>T (p.Val2410=)
c.11256G>T (p.Val3752=)
c.7008G>T (p.Val2336=)
c.10236G>T (p.Val3412=)
8g.99868450T>ACA371792444VPS13Bc.*546T>A (n.*546T>A)
n.11522T>A
c.*7134T>A (n.*7134T>A)
c.11377T>A (p.Ser3793Thr)
c.11452T>A (p.Ser3818Thr)
n.394T>A
c.11449T>A (p.Ser3817Thr)
c.11374T>A (p.Ser3792Thr)
c.11074T>A (p.Ser3692Thr)
c.8338T>A (p.Ser2780Thr)
c.7231T>A (p.Ser2411Thr)
c.11257T>A (p.Ser3753Thr)
c.7009T>A (p.Ser2337Thr)
c.10237T>A (p.Ser3413Thr)
8g.99868450T>CCA371792447VPS13Bc.*546T>C (n.*546T>C)
n.11522T>C
c.*7134T>C (n.*7134T>C)
c.11377T>C (p.Ser3793Pro)
c.11452T>C (p.Ser3818Pro)
n.394T>C
c.11449T>C (p.Ser3817Pro)
c.11374T>C (p.Ser3792Pro)
c.11074T>C (p.Ser3692Pro)
c.8338T>C (p.Ser2780Pro)
c.7231T>C (p.Ser2411Pro)
c.11257T>C (p.Ser3753Pro)
c.7009T>C (p.Ser2337Pro)
c.10237T>C (p.Ser3413Pro)
8g.99868450T>GCA371792449VPS13Bc.*546T>G (n.*546T>G)
n.11522T>G
c.*7134T>G (n.*7134T>G)
c.11377T>G (p.Ser3793Ala)
c.11452T>G (p.Ser3818Ala)
n.394T>G
c.11449T>G (p.Ser3817Ala)
c.11374T>G (p.Ser3792Ala)
c.11074T>G (p.Ser3692Ala)
c.8338T>G (p.Ser2780Ala)
c.7231T>G (p.Ser2411Ala)
c.11257T>G (p.Ser3753Ala)
c.7009T>G (p.Ser2337Ala)
c.10237T>G (p.Ser3413Ala)
8g.99868450_99868452delCA913128150VPS13Bc.*546_*548del (n.*546_*548del)
n.11522_11524del
c.*7134_*7136del (n.*7134_*7136del)
c.11377_11379del (p.Ser3793del)
c.11452_11454del (p.Ser3818del)
n.394_396del
c.11449_11451del (p.Ser3817del)
c.11374_11376del (p.Ser3792del)
c.11074_11076del (p.Ser3692del)
c.8338_8340del (p.Ser2780del)
c.7231_7233del (p.Ser2411del)
c.11257_11259del (p.Ser3753del)
c.7009_7011del (p.Ser2337del)
c.10237_10239del (p.Ser3413del)
8g.99868451C>ACA371792453VPS13Bc.*547C>A (n.*547C>A)
n.11523C>A
c.*7135C>A (n.*7135C>A)
c.11378C>A (p.Ser3793Ter)
c.11453C>A (p.Ser3818Ter)
n.395C>A
c.11450C>A (p.Ser3817Ter)
c.11375C>A (p.Ser3792Ter)
c.11075C>A (p.Ser3692Ter)
c.8339C>A (p.Ser2780Ter)
c.7232C>A (p.Ser2411Ter)
c.11258C>A (p.Ser3753Ter)
c.7010C>A (p.Ser2337Ter)
c.10238C>A (p.Ser3413Ter)
8g.99868451C>GCA275326VPS13Bc.*547C>G (n.*547C>G)
n.11523C>G
c.*7135C>G (n.*7135C>G)
c.11378C>G (p.Ser3793Ter)
c.11453C>G (p.Ser3818Ter)
n.395C>G
c.11450C>G (p.Ser3817Ter)
c.11375C>G (p.Ser3792Ter)
c.11075C>G (p.Ser3692Ter)
c.8339C>G (p.Ser2780Ter)
c.7232C>G (p.Ser2411Ter)
c.11258C>G (p.Ser3753Ter)
c.7010C>G (p.Ser2337Ter)
c.10238C>G (p.Ser3413Ter)
 ClinVar dbSNP gnomAD v4
8g.99868451C>TCA371792456VPS13Bc.*547C>T (n.*547C>T)
n.11523C>T
c.*7135C>T (n.*7135C>T)
c.11378C>T (p.Ser3793Leu)
c.11453C>T (p.Ser3818Leu)
n.395C>T
c.11450C>T (p.Ser3817Leu)
c.11375C>T (p.Ser3792Leu)
c.11075C>T (p.Ser3692Leu)
c.8339C>T (p.Ser2780Leu)
c.7232C>T (p.Ser2411Leu)
c.11258C>T (p.Ser3753Leu)
c.7010C>T (p.Ser2337Leu)
c.10238C>T (p.Ser3413Leu)
 COSMIC COSMIC
8g.99868453_99868454delCA658821920VPS13Bc.*549_*550del (n.*549_*550del)
n.11525_11526del
c.*7137_*7138del (n.*7137_*7138del)
c.11380_11381del (p.Gln3794AspfsTer23)
c.11455_11456del (p.Gln3819AspfsTer23)
n.397_398del
c.11452_11453del (p.Gln3818AspfsTer23)
c.11377_11378del (p.Gln3793AspfsTer23)
c.11077_11078del (p.Gln3693AspfsTer23)
c.8341_8342del (p.Gln2781AspfsTer23)
c.7234_7235del (p.Gln2412AspfsTer23)
c.11260_11261del (p.Gln3754AspfsTer23)
c.7012_7013del (p.Gln2338AspfsTer23)
c.10240_10241del (p.Gln3414AspfsTer23)
 ClinVar dbSNP
8g.99868452A>CCA462339436VPS13Bc.*548A>C (n.*548A>C)
n.11524A>C
c.*7136A>C (n.*7136A>C)
c.11379A>C (p.Ser3793=)
c.11454A>C (p.Ser3818=)
n.396A>C
c.11451A>C (p.Ser3817=)
c.11376A>C (p.Ser3792=)
c.11076A>C (p.Ser3692=)
c.8340A>C (p.Ser2780=)
c.7233A>C (p.Ser2411=)
c.11259A>C (p.Ser3753=)
c.7011A>C (p.Ser2337=)
c.10239A>C (p.Ser3413=)
8g.99868452A>GCA462339437VPS13Bc.*548A>G (n.*548A>G)
n.11524A>G
c.*7136A>G (n.*7136A>G)
c.11379A>G (p.Ser3793=)
c.11454A>G (p.Ser3818=)
n.396A>G
c.11451A>G (p.Ser3817=)
c.11376A>G (p.Ser3792=)
c.11076A>G (p.Ser3692=)
c.8340A>G (p.Ser2780=)
c.7233A>G (p.Ser2411=)
c.11259A>G (p.Ser3753=)
c.7011A>G (p.Ser2337=)
c.10239A>G (p.Ser3413=)
8g.99868452A>TCA462339438VPS13Bc.*548A>T (n.*548A>T)
n.11524A>T
c.*7136A>T (n.*7136A>T)
c.11379A>T (p.Ser3793=)
c.11454A>T (p.Ser3818=)
n.396A>T
c.11451A>T (p.Ser3817=)
c.11376A>T (p.Ser3792=)
c.11076A>T (p.Ser3692=)
c.8340A>T (p.Ser2780=)
c.7233A>T (p.Ser2411=)
c.11259A>T (p.Ser3753=)
c.7011A>T (p.Ser2337=)
c.10239A>T (p.Ser3413=)
8g.99868453C>ACA371792459VPS13Bc.*549C>A (n.*549C>A)
n.11525C>A
c.*7137C>A (n.*7137C>A)
c.11380C>A (p.Gln3794Lys)
c.11455C>A (p.Gln3819Lys)
n.397C>A
c.11452C>A (p.Gln3818Lys)
c.11377C>A (p.Gln3793Lys)
c.11077C>A (p.Gln3693Lys)
c.8341C>A (p.Gln2781Lys)
c.7234C>A (p.Gln2412Lys)
c.11260C>A (p.Gln3754Lys)
c.7012C>A (p.Gln2338Lys)
c.10240C>A (p.Gln3414Lys)
8g.99868453C>GCA371792461VPS13Bc.*549C>G (n.*549C>G)
n.11525C>G
c.*7137C>G (n.*7137C>G)
c.11380C>G (p.Gln3794Glu)
c.11455C>G (p.Gln3819Glu)
n.397C>G
c.11452C>G (p.Gln3818Glu)
c.11377C>G (p.Gln3793Glu)
c.11077C>G (p.Gln3693Glu)
c.8341C>G (p.Gln2781Glu)
c.7234C>G (p.Gln2412Glu)
c.11260C>G (p.Gln3754Glu)
c.7012C>G (p.Gln2338Glu)
c.10240C>G (p.Gln3414Glu)
8g.99868453C>TCA371792463VPS13Bc.*549C>T (n.*549C>T)
n.11525C>T
c.*7137C>T (n.*7137C>T)
c.11380C>T (p.Gln3794Ter)
c.11455C>T (p.Gln3819Ter)
n.397C>T
c.11452C>T (p.Gln3818Ter)
c.11377C>T (p.Gln3793Ter)
c.11077C>T (p.Gln3693Ter)
c.8341C>T (p.Gln2781Ter)
c.7234C>T (p.Gln2412Ter)
c.11260C>T (p.Gln3754Ter)
c.7012C>T (p.Gln2338Ter)
c.10240C>T (p.Gln3414Ter)
8g.99868454A>CCA371792469VPS13Bc.*550A>C (n.*550A>C)
n.11526A>C
c.*7138A>C (n.*7138A>C)
c.11381A>C (p.Gln3794Pro)
c.11456A>C (p.Gln3819Pro)
n.398A>C
c.11453A>C (p.Gln3818Pro)
c.11378A>C (p.Gln3793Pro)
c.11078A>C (p.Gln3693Pro)
c.8342A>C (p.Gln2781Pro)
c.7235A>C (p.Gln2412Pro)
c.11261A>C (p.Gln3754Pro)
c.7013A>C (p.Gln2338Pro)
c.10241A>C (p.Gln3414Pro)
 gnomAD v4
8g.99868454A>GCA371792471VPS13Bc.*550A>G (n.*550A>G)
n.11526A>G
c.*7138A>G (n.*7138A>G)
c.11381A>G (p.Gln3794Arg)
c.11456A>G (p.Gln3819Arg)
n.398A>G
c.11453A>G (p.Gln3818Arg)
c.11378A>G (p.Gln3793Arg)
c.11078A>G (p.Gln3693Arg)
c.8342A>G (p.Gln2781Arg)
c.7235A>G (p.Gln2412Arg)
c.11261A>G (p.Gln3754Arg)
c.7013A>G (p.Gln2338Arg)
c.10241A>G (p.Gln3414Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99868454A>TCA371792468VPS13Bc.*550A>T (n.*550A>T)
n.11526A>T
c.*7138A>T (n.*7138A>T)
c.11381A>T (p.Gln3794Leu)
c.11456A>T (p.Gln3819Leu)
n.398A>T
c.11453A>T (p.Gln3818Leu)
c.11378A>T (p.Gln3793Leu)
c.11078A>T (p.Gln3693Leu)
c.8342A>T (p.Gln2781Leu)
c.7235A>T (p.Gln2412Leu)
c.11261A>T (p.Gln3754Leu)
c.7013A>T (p.Gln2338Leu)
c.10241A>T (p.Gln3414Leu)
8g.99868455G>ACA462339439VPS13Bc.*551G>A (n.*551G>A)
n.11527G>A
c.*7139G>A (n.*7139G>A)
c.11382G>A (p.Gln3794=)
c.11457G>A (p.Gln3819=)
n.399G>A
c.11454G>A (p.Gln3818=)
c.11379G>A (p.Gln3793=)
c.11079G>A (p.Gln3693=)
c.8343G>A (p.Gln2781=)
c.7236G>A (p.Gln2412=)
c.11262G>A (p.Gln3754=)
c.7014G>A (p.Gln2338=)
c.10242G>A (p.Gln3414=)
 gnomAD v4
8g.99868455G>CCA371792478VPS13Bc.*551G>C (n.*551G>C)
n.11527G>C
c.*7139G>C (n.*7139G>C)
c.11382G>C (p.Gln3794His)
c.11457G>C (p.Gln3819His)
n.399G>C
c.11454G>C (p.Gln3818His)
c.11379G>C (p.Gln3793His)
c.11079G>C (p.Gln3693His)
c.8343G>C (p.Gln2781His)
c.7236G>C (p.Gln2412His)
c.11262G>C (p.Gln3754His)
c.7014G>C (p.Gln2338His)
c.10242G>C (p.Gln3414His)
8g.99868455G>TCA371792475VPS13Bc.*551G>T (n.*551G>T)
n.11527G>T
c.*7139G>T (n.*7139G>T)
c.11382G>T (p.Gln3794His)
c.11457G>T (p.Gln3819His)
n.399G>T
c.11454G>T (p.Gln3818His)
c.11379G>T (p.Gln3793His)
c.11079G>T (p.Gln3693His)
c.8343G>T (p.Gln2781His)
c.7236G>T (p.Gln2412His)
c.11262G>T (p.Gln3754His)
c.7014G>T (p.Gln2338His)
c.10242G>T (p.Gln3414His)
8g.99868456A>CCA371792486VPS13Bc.*552A>C (n.*552A>C)
n.11528A>C
c.*7140A>C (n.*7140A>C)
c.11383A>C (p.Thr3795Pro)
c.11458A>C (p.Thr3820Pro)
n.400A>C
c.11455A>C (p.Thr3819Pro)
c.11380A>C (p.Thr3794Pro)
c.11080A>C (p.Thr3694Pro)
c.8344A>C (p.Thr2782Pro)
c.7237A>C (p.Thr2413Pro)
c.11263A>C (p.Thr3755Pro)
c.7015A>C (p.Thr2339Pro)
c.10243A>C (p.Thr3415Pro)
8g.99868456A>GCA371792481VPS13Bc.*552A>G (n.*552A>G)
n.11528A>G
c.*7140A>G (n.*7140A>G)
c.11383A>G (p.Thr3795Ala)
c.11458A>G (p.Thr3820Ala)
n.400A>G
c.11455A>G (p.Thr3819Ala)
c.11380A>G (p.Thr3794Ala)
c.11080A>G (p.Thr3694Ala)
c.8344A>G (p.Thr2782Ala)
c.7237A>G (p.Thr2413Ala)
c.11263A>G (p.Thr3755Ala)
c.7015A>G (p.Thr2339Ala)
c.10243A>G (p.Thr3415Ala)
8g.99868456A>TCA371792484VPS13Bc.*552A>T (n.*552A>T)
n.11528A>T
c.*7140A>T (n.*7140A>T)
c.11383A>T (p.Thr3795Ser)
c.11458A>T (p.Thr3820Ser)
n.400A>T
c.11455A>T (p.Thr3819Ser)
c.11380A>T (p.Thr3794Ser)
c.11080A>T (p.Thr3694Ser)
c.8344A>T (p.Thr2782Ser)
c.7237A>T (p.Thr2413Ser)
c.11263A>T (p.Thr3755Ser)
c.7015A>T (p.Thr2339Ser)
c.10243A>T (p.Thr3415Ser)
8g.99868456_99868457insTGTTTTCA2557833871VPS13Bc.*552_*553insTGTTTT (n.*552_*553insTGTTTT)
n.11528_11529insTGTTTT
c.*7140_*7141insTGTTTT (n.*7140_*7141insTGTTTT)
c.11383_11384insTGTTTT (p.Thr3795delinsMetPheSer)
c.11458_11459insTGTTTT (p.Thr3820delinsMetPheSer)
n.400_401insTGTTTT
c.11455_11456insTGTTTT (p.Thr3819delinsMetPheSer)
c.11380_11381insTGTTTT (p.Thr3794delinsMetPheSer)
c.11080_11081insTGTTTT (p.Thr3694delinsMetPheSer)
c.8344_8345insTGTTTT (p.Thr2782delinsMetPheSer)
c.7237_7238insTGTTTT (p.Thr2413delinsMetPheSer)
c.11263_11264insTGTTTT (p.Thr3755delinsMetPheSer)
c.7015_7016insTGTTTT (p.Thr2339delinsMetPheSer)
c.10243_10244insTGTTTT (p.Thr3415delinsMetPheSer)
8g.99868457C>ACA371792490VPS13Bc.*553C>A (n.*553C>A)
n.11529C>A
c.*7141C>A (n.*7141C>A)
c.11384C>A (p.Thr3795Asn)
c.11459C>A (p.Thr3820Asn)
n.401C>A
c.11456C>A (p.Thr3819Asn)
c.11381C>A (p.Thr3794Asn)
c.11081C>A (p.Thr3694Asn)
c.8345C>A (p.Thr2782Asn)
c.7238C>A (p.Thr2413Asn)
c.11264C>A (p.Thr3755Asn)
c.7016C>A (p.Thr2339Asn)
c.10244C>A (p.Thr3415Asn)
 COSMIC COSMIC
8g.99868457C>GCA371792492VPS13Bc.*553C>G (n.*553C>G)
n.11529C>G
c.*7141C>G (n.*7141C>G)
c.11384C>G (p.Thr3795Ser)
c.11459C>G (p.Thr3820Ser)
n.401C>G
c.11456C>G (p.Thr3819Ser)
c.11381C>G (p.Thr3794Ser)
c.11081C>G (p.Thr3694Ser)
c.8345C>G (p.Thr2782Ser)
c.7238C>G (p.Thr2413Ser)
c.11264C>G (p.Thr3755Ser)
c.7016C>G (p.Thr2339Ser)
c.10244C>G (p.Thr3415Ser)
8g.99868457C>TCA371792494VPS13Bc.*553C>T (n.*553C>T)
n.11529C>T
c.*7141C>T (n.*7141C>T)
c.11384C>T (p.Thr3795Ile)
c.11459C>T (p.Thr3820Ile)
n.401C>T
c.11456C>T (p.Thr3819Ile)
c.11381C>T (p.Thr3794Ile)
c.11081C>T (p.Thr3694Ile)
c.8345C>T (p.Thr2782Ile)
c.7238C>T (p.Thr2413Ile)
c.11264C>T (p.Thr3755Ile)
c.7016C>T (p.Thr2339Ile)
c.10244C>T (p.Thr3415Ile)
8g.99868458T>ACA462339443VPS13Bc.*554T>A (n.*554T>A)
n.11530T>A
c.*7142T>A (n.*7142T>A)
c.11385T>A (p.Thr3795=)
c.11460T>A (p.Thr3820=)
n.402T>A
c.11457T>A (p.Thr3819=)
c.11382T>A (p.Thr3794=)
c.11082T>A (p.Thr3694=)
c.8346T>A (p.Thr2782=)
c.7239T>A (p.Thr2413=)
c.11265T>A (p.Thr3755=)
c.7017T>A (p.Thr2339=)
c.10245T>A (p.Thr3415=)
8g.99868458T>CCA462339444VPS13Bc.*554T>C (n.*554T>C)
n.11530T>C
c.*7142T>C (n.*7142T>C)
c.11385T>C (p.Thr3795=)
c.11460T>C (p.Thr3820=)
n.402T>C
c.11457T>C (p.Thr3819=)
c.11382T>C (p.Thr3794=)
c.11082T>C (p.Thr3694=)
c.8346T>C (p.Thr2782=)
c.7239T>C (p.Thr2413=)
c.11265T>C (p.Thr3755=)
c.7017T>C (p.Thr2339=)
c.10245T>C (p.Thr3415=)
 ClinVar
8g.99868458T>GCA462339445VPS13Bc.*554T>G (n.*554T>G)
n.11530T>G
c.*7142T>G (n.*7142T>G)
c.11385T>G (p.Thr3795=)
c.11460T>G (p.Thr3820=)
n.402T>G
c.11457T>G (p.Thr3819=)
c.11382T>G (p.Thr3794=)
c.11082T>G (p.Thr3694=)
c.8346T>G (p.Thr2782=)
c.7239T>G (p.Thr2413=)
c.11265T>G (p.Thr3755=)
c.7017T>G (p.Thr2339=)
c.10245T>G (p.Thr3415=)
8g.99868459G>ACA371792511VPS13Bc.*555G>A (n.*555G>A)
n.11531G>A
c.*7143G>A (n.*7143G>A)
c.11386G>A (p.Gly3796Ser)
c.11461G>A (p.Gly3821Ser)
n.403G>A
c.11458G>A (p.Gly3820Ser)
c.11383G>A (p.Gly3795Ser)
c.11083G>A (p.Gly3695Ser)
c.8347G>A (p.Gly2783Ser)
c.7240G>A (p.Gly2414Ser)
c.11266G>A (p.Gly3756Ser)
c.7018G>A (p.Gly2340Ser)
c.10246G>A (p.Gly3416Ser)
8g.99868459G>CCA371792508VPS13Bc.*555G>C (n.*555G>C)
n.11531G>C
c.*7143G>C (n.*7143G>C)
c.11386G>C (p.Gly3796Arg)
c.11461G>C (p.Gly3821Arg)
n.403G>C
c.11458G>C (p.Gly3820Arg)
c.11383G>C (p.Gly3795Arg)
c.11083G>C (p.Gly3695Arg)
c.8347G>C (p.Gly2783Arg)
c.7240G>C (p.Gly2414Arg)
c.11266G>C (p.Gly3756Arg)
c.7018G>C (p.Gly2340Arg)
c.10246G>C (p.Gly3416Arg)
8g.99868459G>TCA371792497VPS13Bc.*555G>T (n.*555G>T)
n.11531G>T
c.*7143G>T (n.*7143G>T)
c.11386G>T (p.Gly3796Cys)
c.11461G>T (p.Gly3821Cys)
n.403G>T
c.11458G>T (p.Gly3820Cys)
c.11383G>T (p.Gly3795Cys)
c.11083G>T (p.Gly3695Cys)
c.8347G>T (p.Gly2783Cys)
c.7240G>T (p.Gly2414Cys)
c.11266G>T (p.Gly3756Cys)
c.7018G>T (p.Gly2340Cys)
c.10246G>T (p.Gly3416Cys)
8g.99868460G>ACA371792516VPS13Bc.*556G>A (n.*556G>A)
n.11532G>A
c.*7144G>A (n.*7144G>A)
c.11387G>A (p.Gly3796Asp)
c.11462G>A (p.Gly3821Asp)
n.404G>A
c.11459G>A (p.Gly3820Asp)
c.11384G>A (p.Gly3795Asp)
c.11084G>A (p.Gly3695Asp)
c.8348G>A (p.Gly2783Asp)
c.7241G>A (p.Gly2414Asp)
c.11267G>A (p.Gly3756Asp)
c.7019G>A (p.Gly2340Asp)
c.10247G>A (p.Gly3416Asp)
8g.99868460G>CCA182328710VPS13Bc.*556G>C (n.*556G>C)
n.11532G>C
c.*7144G>C (n.*7144G>C)
c.11387G>C (p.Gly3796Ala)
c.11462G>C (p.Gly3821Ala)
n.404G>C
c.11459G>C (p.Gly3820Ala)
c.11384G>C (p.Gly3795Ala)
c.11084G>C (p.Gly3695Ala)
c.8348G>C (p.Gly2783Ala)
c.7241G>C (p.Gly2414Ala)
c.11267G>C (p.Gly3756Ala)
c.7019G>C (p.Gly2340Ala)
c.10247G>C (p.Gly3416Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.99868460G>TCA371792519VPS13Bc.*556G>T (n.*556G>T)
n.11532G>T
c.*7144G>T (n.*7144G>T)
c.11387G>T (p.Gly3796Val)
c.11462G>T (p.Gly3821Val)
n.404G>T
c.11459G>T (p.Gly3820Val)
c.11384G>T (p.Gly3795Val)
c.11084G>T (p.Gly3695Val)
c.8348G>T (p.Gly2783Val)
c.7241G>T (p.Gly2414Val)
c.11267G>T (p.Gly3756Val)
c.7019G>T (p.Gly2340Val)
c.10247G>T (p.Gly3416Val)
8g.99868461C>ACA462339449VPS13Bc.*557C>A (n.*557C>A)
n.11533C>A
c.*7145C>A (n.*7145C>A)
c.11388C>A (p.Gly3796=)
c.11463C>A (p.Gly3821=)
n.405C>A
c.11460C>A (p.Gly3820=)
c.11385C>A (p.Gly3795=)
c.11085C>A (p.Gly3695=)
c.8349C>A (p.Gly2783=)
c.7242C>A (p.Gly2414=)
c.11268C>A (p.Gly3756=)
c.7020C>A (p.Gly2340=)
c.10248C>A (p.Gly3416=)
8g.99868461C>GCA462339450VPS13Bc.*557C>G (n.*557C>G)
n.11533C>G
c.*7145C>G (n.*7145C>G)
c.11388C>G (p.Gly3796=)
c.11463C>G (p.Gly3821=)
n.405C>G
c.11460C>G (p.Gly3820=)
c.11385C>G (p.Gly3795=)
c.11085C>G (p.Gly3695=)
c.8349C>G (p.Gly2783=)
c.7242C>G (p.Gly2414=)
c.11268C>G (p.Gly3756=)
c.7020C>G (p.Gly2340=)
c.10248C>G (p.Gly3416=)
8g.99868461C>TCA462339451VPS13Bc.*557C>T (n.*557C>T)
n.11533C>T
c.*7145C>T (n.*7145C>T)
c.11388C>T (p.Gly3796=)
c.11463C>T (p.Gly3821=)
n.405C>T
c.11460C>T (p.Gly3820=)
c.11385C>T (p.Gly3795=)
c.11085C>T (p.Gly3695=)
c.8349C>T (p.Gly2783=)
c.7242C>T (p.Gly2414=)
c.11268C>T (p.Gly3756=)
c.7020C>T (p.Gly2340=)
c.10248C>T (p.Gly3416=)
8g.99868462T>ACA371792522VPS13Bc.*558T>A (n.*558T>A)
n.11534T>A
c.*7146T>A (n.*7146T>A)
c.11389T>A (p.Tyr3797Asn)
c.11464T>A (p.Tyr3822Asn)
n.406T>A
c.11461T>A (p.Tyr3821Asn)
c.11386T>A (p.Tyr3796Asn)
c.11086T>A (p.Tyr3696Asn)
c.8350T>A (p.Tyr2784Asn)
c.7243T>A (p.Tyr2415Asn)
c.11269T>A (p.Tyr3757Asn)
c.7021T>A (p.Tyr2341Asn)
c.10249T>A (p.Tyr3417Asn)
8g.99868462T>CCA371792525VPS13Bc.*558T>C (n.*558T>C)
n.11534T>C
c.*7146T>C (n.*7146T>C)
c.11389T>C (p.Tyr3797His)
c.11464T>C (p.Tyr3822His)
n.406T>C
c.11461T>C (p.Tyr3821His)
c.11386T>C (p.Tyr3796His)
c.11086T>C (p.Tyr3696His)
c.8350T>C (p.Tyr2784His)
c.7243T>C (p.Tyr2415His)
c.11269T>C (p.Tyr3757His)
c.7021T>C (p.Tyr2341His)
c.10249T>C (p.Tyr3417His)
8g.99868462T>GCA371792527VPS13Bc.*558T>G (n.*558T>G)
n.11534T>G
c.*7146T>G (n.*7146T>G)
c.11389T>G (p.Tyr3797Asp)
c.11464T>G (p.Tyr3822Asp)
n.406T>G
c.11461T>G (p.Tyr3821Asp)
c.11386T>G (p.Tyr3796Asp)
c.11086T>G (p.Tyr3696Asp)
c.8350T>G (p.Tyr2784Asp)
c.7243T>G (p.Tyr2415Asp)
c.11269T>G (p.Tyr3757Asp)
c.7021T>G (p.Tyr2341Asp)
c.10249T>G (p.Tyr3417Asp)
8g.99868463A>CCA371792531VPS13Bc.*559A>C (n.*559A>C)
n.11535A>C
c.*7147A>C (n.*7147A>C)
c.11390A>C (p.Tyr3797Ser)
c.11465A>C (p.Tyr3822Ser)
n.407A>C
c.11462A>C (p.Tyr3821Ser)
c.11387A>C (p.Tyr3796Ser)
c.11087A>C (p.Tyr3696Ser)
c.8351A>C (p.Tyr2784Ser)
c.7244A>C (p.Tyr2415Ser)
c.11270A>C (p.Tyr3757Ser)
c.7022A>C (p.Tyr2341Ser)
c.10250A>C (p.Tyr3417Ser)
8g.99868463A>GCA371792536VPS13Bc.*559A>G (n.*559A>G)
n.11535A>G
c.*7147A>G (n.*7147A>G)
c.11390A>G (p.Tyr3797Cys)
c.11465A>G (p.Tyr3822Cys)
n.407A>G
c.11462A>G (p.Tyr3821Cys)
c.11387A>G (p.Tyr3796Cys)
c.11087A>G (p.Tyr3696Cys)
c.8351A>G (p.Tyr2784Cys)
c.7244A>G (p.Tyr2415Cys)
c.11270A>G (p.Tyr3757Cys)
c.7022A>G (p.Tyr2341Cys)
c.10250A>G (p.Tyr3417Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99868463A>TCA371792533VPS13Bc.*559A>T (n.*559A>T)
n.11535A>T
c.*7147A>T (n.*7147A>T)
c.11390A>T (p.Tyr3797Phe)
c.11465A>T (p.Tyr3822Phe)
n.407A>T
c.11462A>T (p.Tyr3821Phe)
c.11387A>T (p.Tyr3796Phe)
c.11087A>T (p.Tyr3696Phe)
c.8351A>T (p.Tyr2784Phe)
c.7244A>T (p.Tyr2415Phe)
c.11270A>T (p.Tyr3757Phe)
c.7022A>T (p.Tyr2341Phe)
c.10250A>T (p.Tyr3417Phe)
8g.99868464T>ACA371792539VPS13Bc.*560T>A (n.*560T>A)
n.11536T>A
c.*7148T>A (n.*7148T>A)
c.11391T>A (p.Tyr3797Ter)
c.11466T>A (p.Tyr3822Ter)
n.408T>A
c.11463T>A (p.Tyr3821Ter)
c.11388T>A (p.Tyr3796Ter)
c.11088T>A (p.Tyr3696Ter)
c.8352T>A (p.Tyr2784Ter)
c.7245T>A (p.Tyr2415Ter)
c.11271T>A (p.Tyr3757Ter)
c.7023T>A (p.Tyr2341Ter)
c.10251T>A (p.Tyr3417Ter)
8g.99868464T>CCA462339453VPS13Bc.*560T>C (n.*560T>C)
n.11536T>C
c.*7148T>C (n.*7148T>C)
c.11391T>C (p.Tyr3797=)
c.11466T>C (p.Tyr3822=)
n.408T>C
c.11463T>C (p.Tyr3821=)
c.11388T>C (p.Tyr3796=)
c.11088T>C (p.Tyr3696=)
c.8352T>C (p.Tyr2784=)
c.7245T>C (p.Tyr2415=)
c.11271T>C (p.Tyr3757=)
c.7023T>C (p.Tyr2341=)
c.10251T>C (p.Tyr3417=)
 dbSNP gnomAD v2 gnomAD v4
8g.99868464T>GCA371792541VPS13Bc.*560T>G (n.*560T>G)
n.11536T>G
c.*7148T>G (n.*7148T>G)
c.11391T>G (p.Tyr3797Ter)
c.11466T>G (p.Tyr3822Ter)
n.408T>G
c.11463T>G (p.Tyr3821Ter)
c.11388T>G (p.Tyr3796Ter)
c.11088T>G (p.Tyr3696Ter)
c.8352T>G (p.Tyr2784Ter)
c.7245T>G (p.Tyr2415Ter)
c.11271T>G (p.Tyr3757Ter)
c.7023T>G (p.Tyr2341Ter)
c.10251T>G (p.Tyr3417Ter)
8g.99868465G>ACA371792545VPS13Bc.*561G>A (n.*561G>A)
n.11537G>A
c.*7149G>A (n.*7149G>A)
c.11392G>A (p.Gly3798Ser)
c.11467G>A (p.Gly3823Ser)
n.409G>A
c.11464G>A (p.Gly3822Ser)
c.11389G>A (p.Gly3797Ser)
c.11089G>A (p.Gly3697Ser)
c.8353G>A (p.Gly2785Ser)
c.7246G>A (p.Gly2416Ser)
c.11272G>A (p.Gly3758Ser)
c.7024G>A (p.Gly2342Ser)
c.10252G>A (p.Gly3418Ser)
 ClinVar COSMIC COSMIC
8g.99868465G>CCA371792548VPS13Bc.*561G>C (n.*561G>C)
n.11537G>C
c.*7149G>C (n.*7149G>C)
c.11392G>C (p.Gly3798Arg)
c.11467G>C (p.Gly3823Arg)
n.409G>C
c.11464G>C (p.Gly3822Arg)
c.11389G>C (p.Gly3797Arg)
c.11089G>C (p.Gly3697Arg)
c.8353G>C (p.Gly2785Arg)
c.7246G>C (p.Gly2416Arg)
c.11272G>C (p.Gly3758Arg)
c.7024G>C (p.Gly2342Arg)
c.10252G>C (p.Gly3418Arg)
8g.99868465G>TCA371792550VPS13Bc.*561G>T (n.*561G>T)
n.11537G>T
c.*7149G>T (n.*7149G>T)
c.11392G>T (p.Gly3798Cys)
c.11467G>T (p.Gly3823Cys)
n.409G>T
c.11464G>T (p.Gly3822Cys)
c.11389G>T (p.Gly3797Cys)
c.11089G>T (p.Gly3697Cys)
c.8353G>T (p.Gly2785Cys)
c.7246G>T (p.Gly2416Cys)
c.11272G>T (p.Gly3758Cys)
c.7024G>T (p.Gly2342Cys)
c.10252G>T (p.Gly3418Cys)
 COSMIC COSMIC
8g.99868466G>ACA371792554VPS13Bc.*561+1G>A (n.*561+1G>A)
n.11537+1G>A
c.*7149+1G>A (n.*7149+1G>A)
c.11392+1G>A (n.11392+1G>A)
c.11467+1G>A (n.11467+1G>A)
n.409+1G>A
c.11464+1G>A (n.11464+1G>A)
c.11389+1G>A (n.11389+1G>A)
c.11089+1G>A (n.11089+1G>A)
c.8353+1G>A (n.8353+1G>A)
c.7246+1G>A (n.7246+1G>A)
c.11272+1G>A (n.11272+1G>A)
c.7024+1G>A (n.7024+1G>A)
c.10252+1G>A (n.10252+1G>A)
 COSMIC COSMIC
8g.99868466G>CCA371792556VPS13Bc.*561+1G>C (n.*561+1G>C)
n.11537+1G>C
c.*7149+1G>C (n.*7149+1G>C)
c.11392+1G>C (n.11392+1G>C)
c.11467+1G>C (n.11467+1G>C)
n.409+1G>C
c.11464+1G>C (n.11464+1G>C)
c.11389+1G>C (n.11389+1G>C)
c.11089+1G>C (n.11089+1G>C)
c.8353+1G>C (n.8353+1G>C)
c.7246+1G>C (n.7246+1G>C)
c.11272+1G>C (n.11272+1G>C)
c.7024+1G>C (n.7024+1G>C)
c.10252+1G>C (n.10252+1G>C)
8g.99868466G>TCA371792558VPS13Bc.*561+1G>T (n.*561+1G>T)
n.11537+1G>T
c.*7149+1G>T (n.*7149+1G>T)
c.11392+1G>T (n.11392+1G>T)
c.11467+1G>T (n.11467+1G>T)
n.409+1G>T
c.11464+1G>T (n.11464+1G>T)
c.11389+1G>T (n.11389+1G>T)
c.11089+1G>T (n.11089+1G>T)
c.8353+1G>T (n.8353+1G>T)
c.7246+1G>T (n.7246+1G>T)
c.11272+1G>T (n.11272+1G>T)
c.7024+1G>T (n.7024+1G>T)
c.10252+1G>T (n.10252+1G>T)
 ClinVar dbSNP gnomAD v4
8g.99868467T>ACA371792560VPS13Bc.*561+2T>A (n.*561+2T>A)
n.11537+2T>A
c.*7149+2T>A (n.*7149+2T>A)
c.11392+2T>A (n.11392+2T>A)
c.11467+2T>A (n.11467+2T>A)
n.409+2T>A
c.11464+2T>A (n.11464+2T>A)
c.11389+2T>A (n.11389+2T>A)
c.11089+2T>A (n.11089+2T>A)
c.8353+2T>A (n.8353+2T>A)
c.7246+2T>A (n.7246+2T>A)
c.11272+2T>A (n.11272+2T>A)
c.7024+2T>A (n.7024+2T>A)
c.10252+2T>A (n.10252+2T>A)
8g.99868467T>CCA371792563VPS13Bc.*561+2T>C (n.*561+2T>C)
n.11537+2T>C
c.*7149+2T>C (n.*7149+2T>C)
c.11392+2T>C (n.11392+2T>C)
c.11467+2T>C (n.11467+2T>C)
n.409+2T>C
c.11464+2T>C (n.11464+2T>C)
c.11389+2T>C (n.11389+2T>C)
c.11089+2T>C (n.11089+2T>C)
c.8353+2T>C (n.8353+2T>C)
c.7246+2T>C (n.7246+2T>C)
c.11272+2T>C (n.11272+2T>C)
c.7024+2T>C (n.7024+2T>C)
c.10252+2T>C (n.10252+2T>C)
8g.99868467T>GCA371792565VPS13Bc.*561+2T>G (n.*561+2T>G)
n.11537+2T>G
c.*7149+2T>G (n.*7149+2T>G)
c.11392+2T>G (n.11392+2T>G)
c.11467+2T>G (n.11467+2T>G)
n.409+2T>G
c.11464+2T>G (n.11464+2T>G)
c.11389+2T>G (n.11389+2T>G)
c.11089+2T>G (n.11089+2T>G)
c.8353+2T>G (n.8353+2T>G)
c.7246+2T>G (n.7246+2T>G)
c.11272+2T>G (n.11272+2T>G)
c.7024+2T>G (n.7024+2T>G)
c.10252+2T>G (n.10252+2T>G)
8g.99868467dupCA2497231689VPS13Bc.*561+2dup (n.*561+2dup)
n.11537+2dup
c.*7149+2dup (n.*7149+2dup)
c.11392+2dup (n.11392+2dup)
c.11467+2dup (n.11467+2dup)
n.409+2dup
c.11464+2dup (n.11464+2dup)
c.11389+2dup (n.11389+2dup)
c.11089+2dup (n.11089+2dup)
c.8353+2dup (n.8353+2dup)
c.7246+2dup (n.7246+2dup)
c.11272+2dup (n.11272+2dup)
c.7024+2dup (n.7024+2dup)
c.10252+2dup (n.10252+2dup)
 dbSNP
8g.99868469A>CCA645558538VPS13Bc.*561+4A>C (n.*561+4A>C)
n.11537+4A>C
c.*7149+4A>C (n.*7149+4A>C)
c.11392+4A>C (n.11392+4A>C)
c.11467+4A>C (n.11467+4A>C)
n.409+4A>C
c.11464+4A>C (n.11464+4A>C)
c.11389+4A>C (n.11389+4A>C)
c.11089+4A>C (n.11089+4A>C)
c.8353+4A>C (n.8353+4A>C)
c.7246+4A>C (n.7246+4A>C)
c.11272+4A>C (n.11272+4A>C)
c.7024+4A>C (n.7024+4A>C)
c.10252+4A>C (n.10252+4A>C)
 COSMIC COSMIC
8g.99868470G>ACA2579216444VPS13Bc.*561+5G>A (n.*561+5G>A)
n.11537+5G>A
c.*7149+5G>A (n.*7149+5G>A)
c.11392+5G>A (n.11392+5G>A)
c.11467+5G>A (n.11467+5G>A)
n.409+5G>A
c.11464+5G>A (n.11464+5G>A)
c.11389+5G>A (n.11389+5G>A)
c.11089+5G>A (n.11089+5G>A)
c.8353+5G>A (n.8353+5G>A)
c.7246+5G>A (n.7246+5G>A)
c.11272+5G>A (n.11272+5G>A)
c.7024+5G>A (n.7024+5G>A)
c.10252+5G>A (n.10252+5G>A)
8g.99868470G>CCA2580079243VPS13Bc.*561+5G>C (n.*561+5G>C)
n.11537+5G>C
c.*7149+5G>C (n.*7149+5G>C)
c.11392+5G>C (n.11392+5G>C)
c.11467+5G>C (n.11467+5G>C)
n.409+5G>C
c.11464+5G>C (n.11464+5G>C)
c.11389+5G>C (n.11389+5G>C)
c.11089+5G>C (n.11089+5G>C)
c.8353+5G>C (n.8353+5G>C)
c.7246+5G>C (n.7246+5G>C)
c.11272+5G>C (n.11272+5G>C)
c.7024+5G>C (n.7024+5G>C)
c.10252+5G>C (n.10252+5G>C)
 ClinVar
8g.99868470G>TCA2688072722VPS13Bc.*561+5G>T (n.*561+5G>T)
n.11537+5G>T
c.*7149+5G>T (n.*7149+5G>T)
c.11392+5G>T (n.11392+5G>T)
c.11467+5G>T (n.11467+5G>T)
n.409+5G>T
c.11464+5G>T (n.11464+5G>T)
c.11389+5G>T (n.11389+5G>T)
c.11089+5G>T (n.11089+5G>T)
c.8353+5G>T (n.8353+5G>T)
c.7246+5G>T (n.7246+5G>T)
c.11272+5G>T (n.11272+5G>T)
c.7024+5G>T (n.7024+5G>T)
c.10252+5G>T (n.10252+5G>T)
 gnomAD v4
8g.99868471T>GCA4825217VPS13Bc.*561+6T>G (n.*561+6T>G)
n.11537+6T>G
c.*7149+6T>G (n.*7149+6T>G)
c.11392+6T>G (n.11392+6T>G)
c.11467+6T>G (n.11467+6T>G)
n.409+6T>G
c.11464+6T>G (n.11464+6T>G)
c.11389+6T>G (n.11389+6T>G)
c.11089+6T>G (n.11089+6T>G)
c.8353+6T>G (n.8353+6T>G)
c.7246+6T>G (n.7246+6T>G)
c.11272+6T>G (n.11272+6T>G)
c.7024+6T>G (n.7024+6T>G)
c.10252+6T>G (n.10252+6T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99868472C>ACA2580079244VPS13Bc.*561+7C>A (n.*561+7C>A)
n.11537+7C>A
c.*7149+7C>A (n.*7149+7C>A)
c.11392+7C>A (n.11392+7C>A)
c.11467+7C>A (n.11467+7C>A)
n.409+7C>A
c.11464+7C>A (n.11464+7C>A)
c.11389+7C>A (n.11389+7C>A)
c.11089+7C>A (n.11089+7C>A)
c.8353+7C>A (n.8353+7C>A)
c.7246+7C>A (n.7246+7C>A)
c.11272+7C>A (n.11272+7C>A)
c.7024+7C>A (n.7024+7C>A)
c.10252+7C>A (n.10252+7C>A)
 ClinVar gnomAD v4
8g.99868472C>TCA4825218VPS13Bc.*561+7C>T (n.*561+7C>T)
n.11537+7C>T
c.*7149+7C>T (n.*7149+7C>T)
c.11392+7C>T (n.11392+7C>T)
c.11467+7C>T (n.11467+7C>T)
n.409+7C>T
c.11464+7C>T (n.11464+7C>T)
c.11389+7C>T (n.11389+7C>T)
c.11089+7C>T (n.11089+7C>T)
c.8353+7C>T (n.8353+7C>T)
c.7246+7C>T (n.7246+7C>T)
c.11272+7C>T (n.11272+7C>T)
c.7024+7C>T (n.7024+7C>T)
c.10252+7C>T (n.10252+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868473G>ACA4825219VPS13Bc.*561+8G>A (n.*561+8G>A)
n.11537+8G>A
c.*7149+8G>A (n.*7149+8G>A)
c.11392+8G>A (n.11392+8G>A)
c.11467+8G>A (n.11467+8G>A)
n.409+8G>A
c.11464+8G>A (n.11464+8G>A)
c.11389+8G>A (n.11389+8G>A)
c.11089+8G>A (n.11089+8G>A)
c.8353+8G>A (n.8353+8G>A)
c.7246+8G>A (n.7246+8G>A)
c.11272+8G>A (n.11272+8G>A)
c.7024+8G>A (n.7024+8G>A)
c.10252+8G>A (n.10252+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868473G>TCA2573143503VPS13Bc.*561+8G>T (n.*561+8G>T)
n.11537+8G>T
c.*7149+8G>T (n.*7149+8G>T)
c.11392+8G>T (n.11392+8G>T)
c.11467+8G>T (n.11467+8G>T)
n.409+8G>T
c.11464+8G>T (n.11464+8G>T)
c.11389+8G>T (n.11389+8G>T)
c.11089+8G>T (n.11089+8G>T)
c.8353+8G>T (n.8353+8G>T)
c.7246+8G>T (n.7246+8G>T)
c.11272+8G>T (n.11272+8G>T)
c.7024+8G>T (n.7024+8G>T)
c.10252+8G>T (n.10252+8G>T)
 ClinVar dbSNP
8g.99868475T>CCA2688072726VPS13Bc.*561+10T>C (n.*561+10T>C)
n.11537+10T>C
c.*7149+10T>C (n.*7149+10T>C)
c.11392+10T>C (n.11392+10T>C)
c.11467+10T>C (n.11467+10T>C)
n.409+10T>C
c.11464+10T>C (n.11464+10T>C)
c.11389+10T>C (n.11389+10T>C)
c.11089+10T>C (n.11089+10T>C)
c.8353+10T>C (n.8353+10T>C)
c.7246+10T>C (n.7246+10T>C)
c.11272+10T>C (n.11272+10T>C)
c.7024+10T>C (n.7024+10T>C)
c.10252+10T>C (n.10252+10T>C)
 dbSNP gnomAD v4
8g.99868481dupCA2688072727VPS13Bc.*561+16dup (n.*561+16dup)
n.11537+16dup
c.*7149+16dup (n.*7149+16dup)
c.11392+16dup (n.11392+16dup)
c.11467+16dup (n.11467+16dup)
n.409+16dup
c.11464+16dup (n.11464+16dup)
c.11389+16dup (n.11389+16dup)
c.11089+16dup (n.11089+16dup)
c.8353+16dup (n.8353+16dup)
c.7246+16dup (n.7246+16dup)
c.11272+16dup (n.11272+16dup)
c.7024+16dup (n.7024+16dup)
c.10252+16dup (n.10252+16dup)
 gnomAD v4
8g.99868479_99868486delCA2781481380VPS13Bc.*561+14_*561+21del (n.*561+14_*561+21del)
n.11537+14_11537+21del
c.*7149+14_*7149+21del (n.*7149+14_*7149+21del)
c.11392+14_11392+21del (n.11392+14_11392+21del)
c.11467+14_11467+21del (n.11467+14_11467+21del)
n.409+14_409+21del
c.11464+14_11464+21del (n.11464+14_11464+21del)
c.11389+14_11389+21del (n.11389+14_11389+21del)
c.11089+14_11089+21del (n.11089+14_11089+21del)
c.8353+14_8353+21del (n.8353+14_8353+21del)
c.7246+14_7246+21del (n.7246+14_7246+21del)
c.11272+14_11272+21del (n.11272+14_11272+21del)
c.7024+14_7024+21del (n.7024+14_7024+21del)
c.10252+14_10252+21del (n.10252+14_10252+21del)
8g.99868480A>GCA2688072728VPS13Bc.*561+15A>G (n.*561+15A>G)
n.11537+15A>G
c.*7149+15A>G (n.*7149+15A>G)
c.11392+15A>G (n.11392+15A>G)
c.11467+15A>G (n.11467+15A>G)
n.409+15A>G
c.11464+15A>G (n.11464+15A>G)
c.11389+15A>G (n.11389+15A>G)
c.11089+15A>G (n.11089+15A>G)
c.8353+15A>G (n.8353+15A>G)
c.7246+15A>G (n.7246+15A>G)
c.11272+15A>G (n.11272+15A>G)
c.7024+15A>G (n.7024+15A>G)
c.10252+15A>G (n.10252+15A>G)
 gnomAD v4
8g.99868481A>CCA2717782220VPS13Bc.*561+16A>C (n.*561+16A>C)
n.11537+16A>C
c.*7149+16A>C (n.*7149+16A>C)
c.11392+16A>C (n.11392+16A>C)
c.11467+16A>C (n.11467+16A>C)
n.409+16A>C
c.11464+16A>C (n.11464+16A>C)
c.11389+16A>C (n.11389+16A>C)
c.11089+16A>C (n.11089+16A>C)
c.8353+16A>C (n.8353+16A>C)
c.7246+16A>C (n.7246+16A>C)
c.11272+16A>C (n.11272+16A>C)
c.7024+16A>C (n.7024+16A>C)
c.10252+16A>C (n.10252+16A>C)
 dbSNP
8g.99868482C>ACA4825220VPS13Bc.*561+17C>A (n.*561+17C>A)
n.11537+17C>A
c.*7149+17C>A (n.*7149+17C>A)
c.11392+17C>A (n.11392+17C>A)
c.11467+17C>A (n.11467+17C>A)
n.409+17C>A
c.11464+17C>A (n.11464+17C>A)
c.11389+17C>A (n.11389+17C>A)
c.11089+17C>A (n.11089+17C>A)
c.8353+17C>A (n.8353+17C>A)
c.7246+17C>A (n.7246+17C>A)
c.11272+17C>A (n.11272+17C>A)
c.7024+17C>A (n.7024+17C>A)
c.10252+17C>A (n.10252+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868482C>GCA4825221VPS13Bc.*561+17C>G (n.*561+17C>G)
n.11537+17C>G
c.*7149+17C>G (n.*7149+17C>G)
c.11392+17C>G (n.11392+17C>G)
c.11467+17C>G (n.11467+17C>G)
n.409+17C>G
c.11464+17C>G (n.11464+17C>G)
c.11389+17C>G (n.11389+17C>G)
c.11089+17C>G (n.11089+17C>G)
c.8353+17C>G (n.8353+17C>G)
c.7246+17C>G (n.7246+17C>G)
c.11272+17C>G (n.11272+17C>G)
c.7024+17C>G (n.7024+17C>G)
c.10252+17C>G (n.10252+17C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99868483C>ACA2688072730VPS13Bc.*561+18C>A (n.*561+18C>A)
n.11537+18C>A
c.*7149+18C>A (n.*7149+18C>A)
c.11392+18C>A (n.11392+18C>A)
c.11467+18C>A (n.11467+18C>A)
n.409+18C>A
c.11464+18C>A (n.11464+18C>A)
c.11389+18C>A (n.11389+18C>A)
c.11089+18C>A (n.11089+18C>A)
c.8353+18C>A (n.8353+18C>A)
c.7246+18C>A (n.7246+18C>A)
c.11272+18C>A (n.11272+18C>A)
c.7024+18C>A (n.7024+18C>A)
c.10252+18C>A (n.10252+18C>A)
 gnomAD v4
8g.99868484C>TCA2499219496VPS13Bc.*561+19C>T (n.*561+19C>T)
n.11537+19C>T
c.*7149+19C>T (n.*7149+19C>T)
c.11392+19C>T (n.11392+19C>T)
c.11467+19C>T (n.11467+19C>T)
n.409+19C>T
c.11464+19C>T (n.11464+19C>T)
c.11389+19C>T (n.11389+19C>T)
c.11089+19C>T (n.11089+19C>T)
c.8353+19C>T (n.8353+19C>T)
c.7246+19C>T (n.7246+19C>T)
c.11272+19C>T (n.11272+19C>T)
c.7024+19C>T (n.7024+19C>T)
c.10252+19C>T (n.10252+19C>T)
 ClinVar dbSNP
8g.99868485A>GCA2739268896VPS13Bc.*561+20A>G (n.*561+20A>G)
n.11537+20A>G
c.*7149+20A>G (n.*7149+20A>G)
c.11392+20A>G (n.11392+20A>G)
c.11467+20A>G (n.11467+20A>G)
n.409+20A>G
c.11464+20A>G (n.11464+20A>G)
c.11389+20A>G (n.11389+20A>G)
c.11089+20A>G (n.11089+20A>G)
c.8353+20A>G (n.8353+20A>G)
c.7246+20A>G (n.7246+20A>G)
c.11272+20A>G (n.11272+20A>G)
c.7024+20A>G (n.7024+20A>G)
c.10252+20A>G (n.10252+20A>G)
 ClinVar
8g.99868487C>TCA583861107VPS13Bc.*561+22C>T (n.*561+22C>T)
n.11537+22C>T
c.*7149+22C>T (n.*7149+22C>T)
c.11392+22C>T (n.11392+22C>T)
c.11467+22C>T (n.11467+22C>T)
n.409+22C>T
c.11464+22C>T (n.11464+22C>T)
c.11389+22C>T (n.11389+22C>T)
c.11089+22C>T (n.11089+22C>T)
c.8353+22C>T (n.8353+22C>T)
c.7246+22C>T (n.7246+22C>T)
c.11272+22C>T (n.11272+22C>T)
c.7024+22C>T (n.7024+22C>T)
c.10252+22C>T (n.10252+22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99868488A>GCA1117129794VPS13Bc.*561+23A>G (n.*561+23A>G)
n.11537+23A>G
c.*7149+23A>G (n.*7149+23A>G)
c.11392+23A>G (n.11392+23A>G)
c.11467+23A>G (n.11467+23A>G)
n.409+23A>G
c.11464+23A>G (n.11464+23A>G)
c.11389+23A>G (n.11389+23A>G)
c.11089+23A>G (n.11089+23A>G)
c.8353+23A>G (n.8353+23A>G)
c.7246+23A>G (n.7246+23A>G)
c.11272+23A>G (n.11272+23A>G)
c.7024+23A>G (n.7024+23A>G)
c.10252+23A>G (n.10252+23A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.99868490delCA2579216445VPS13Bc.*561+25del (n.*561+25del)
n.11537+25del
c.*7149+25del (n.*7149+25del)
c.11392+25del (n.11392+25del)
c.11467+25del (n.11467+25del)
n.409+25del
c.11464+25del (n.11464+25del)
c.11389+25del (n.11389+25del)
c.11089+25del (n.11089+25del)
c.8353+25del (n.8353+25del)
c.7246+25del (n.7246+25del)
c.11272+25del (n.11272+25del)
c.7024+25del (n.7024+25del)
c.10252+25del (n.10252+25del)
8g.99868489_99868490insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGCCA2506029321VPS13Bc.*561+24_*561+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.*561+24_*561+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
n.11537+24_11537+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC
c.*7149+24_*7149+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.*7149+24_*7149+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.11392+24_11392+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11392+24_11392+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.11467+24_11467+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11467+24_11467+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
n.409+24_409+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC
c.11464+24_11464+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11464+24_11464+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.11389+24_11389+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11389+24_11389+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.11089+24_11089+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11089+24_11089+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.8353+24_8353+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.8353+24_8353+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.7246+24_7246+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.7246+24_7246+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.11272+24_11272+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11272+24_11272+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.7024+24_7024+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.7024+24_7024+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
c.10252+24_10252+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.10252+24_10252+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC)
8g.99868490G>ACA583861109VPS13Bc.*561+25G>A (n.*561+25G>A)
n.11537+25G>A
c.*7149+25G>A (n.*7149+25G>A)
c.11392+25G>A (n.11392+25G>A)
c.11467+25G>A (n.11467+25G>A)
n.409+25G>A
c.11464+25G>A (n.11464+25G>A)
c.11389+25G>A (n.11389+25G>A)
c.11089+25G>A (n.11089+25G>A)
c.8353+25G>A (n.8353+25G>A)
c.7246+25G>A (n.7246+25G>A)
c.11272+25G>A (n.11272+25G>A)
c.7024+25G>A (n.7024+25G>A)
c.10252+25G>A (n.10252+25G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.99868490G>CCA2688072731VPS13Bc.*561+25G>C (n.*561+25G>C)
n.11537+25G>C
c.*7149+25G>C (n.*7149+25G>C)
c.11392+25G>C (n.11392+25G>C)
c.11467+25G>C (n.11467+25G>C)
n.409+25G>C
c.11464+25G>C (n.11464+25G>C)
c.11389+25G>C (n.11389+25G>C)
c.11089+25G>C (n.11089+25G>C)
c.8353+25G>C (n.8353+25G>C)
c.7246+25G>C (n.7246+25G>C)
c.11272+25G>C (n.11272+25G>C)
c.7024+25G>C (n.7024+25G>C)
c.10252+25G>C (n.10252+25G>C)
 gnomAD v4

Number of alleles fetched