Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99853686C>ACA371781376VPS13Bc.10372C>A (p.Leu3458Ile)
n.10442C>A
c.*6054C>A (n.*6054C>A)
c.10297C>A (p.Leu3433Ile)
c.10369C>A (p.Leu3457Ile)
c.10294C>A (p.Leu3432Ile)
c.9994C>A (p.Leu3332Ile)
c.7258C>A (p.Leu2420Ile)
c.6151C>A (p.Leu2051Ile)
c.10177C>A (p.Leu3393Ile)
c.5929C>A (p.Leu1977Ile)
c.9157C>A (p.Leu3053Ile)
8g.99853686C>GCA371781377VPS13Bc.10372C>G (p.Leu3458Val)
n.10442C>G
c.*6054C>G (n.*6054C>G)
c.10297C>G (p.Leu3433Val)
c.10369C>G (p.Leu3457Val)
c.10294C>G (p.Leu3432Val)
c.9994C>G (p.Leu3332Val)
c.7258C>G (p.Leu2420Val)
c.6151C>G (p.Leu2051Val)
c.10177C>G (p.Leu3393Val)
c.5929C>G (p.Leu1977Val)
c.9157C>G (p.Leu3053Val)
8g.99853686C>TCA371781379VPS13Bc.10372C>T (p.Leu3458Phe)
n.10442C>T
c.*6054C>T (n.*6054C>T)
c.10297C>T (p.Leu3433Phe)
c.10369C>T (p.Leu3457Phe)
c.10294C>T (p.Leu3432Phe)
c.9994C>T (p.Leu3332Phe)
c.7258C>T (p.Leu2420Phe)
c.6151C>T (p.Leu2051Phe)
c.10177C>T (p.Leu3393Phe)
c.5929C>T (p.Leu1977Phe)
c.9157C>T (p.Leu3053Phe)
 ClinVar dbSNP
8g.99853687T>ACA371781382VPS13Bc.10373T>A (p.Leu3458His)
n.10443T>A
c.*6055T>A (n.*6055T>A)
c.10298T>A (p.Leu3433His)
c.10370T>A (p.Leu3457His)
c.10295T>A (p.Leu3432His)
c.9995T>A (p.Leu3332His)
c.7259T>A (p.Leu2420His)
c.6152T>A (p.Leu2051His)
c.10178T>A (p.Leu3393His)
c.5930T>A (p.Leu1977His)
c.9158T>A (p.Leu3053His)
8g.99853687T>CCA371781384VPS13Bc.10373T>C (p.Leu3458Pro)
n.10443T>C
c.*6055T>C (n.*6055T>C)
c.10298T>C (p.Leu3433Pro)
c.10370T>C (p.Leu3457Pro)
c.10295T>C (p.Leu3432Pro)
c.9995T>C (p.Leu3332Pro)
c.7259T>C (p.Leu2420Pro)
c.6152T>C (p.Leu2051Pro)
c.10178T>C (p.Leu3393Pro)
c.5930T>C (p.Leu1977Pro)
c.9158T>C (p.Leu3053Pro)
8g.99853687T>GCA371781386VPS13Bc.10373T>G (p.Leu3458Arg)
n.10443T>G
c.*6055T>G (n.*6055T>G)
c.10298T>G (p.Leu3433Arg)
c.10370T>G (p.Leu3457Arg)
c.10295T>G (p.Leu3432Arg)
c.9995T>G (p.Leu3332Arg)
c.7259T>G (p.Leu2420Arg)
c.6152T>G (p.Leu2051Arg)
c.10178T>G (p.Leu3393Arg)
c.5930T>G (p.Leu1977Arg)
c.9158T>G (p.Leu3053Arg)
8g.99853688T>ACA462458184VPS13Bc.10374T>A (p.Leu3458=)
n.10444T>A
c.*6056T>A (n.*6056T>A)
c.10299T>A (p.Leu3433=)
c.10371T>A (p.Leu3457=)
c.10296T>A (p.Leu3432=)
c.9996T>A (p.Leu3332=)
c.7260T>A (p.Leu2420=)
c.6153T>A (p.Leu2051=)
c.10179T>A (p.Leu3393=)
c.5931T>A (p.Leu1977=)
c.9159T>A (p.Leu3053=)
8g.99853688T>CCA4824927VPS13Bc.10374T>C (p.Leu3458=)
n.10444T>C
c.*6056T>C (n.*6056T>C)
c.10299T>C (p.Leu3433=)
c.10371T>C (p.Leu3457=)
c.10296T>C (p.Leu3432=)
c.9996T>C (p.Leu3332=)
c.7260T>C (p.Leu2420=)
c.6153T>C (p.Leu2051=)
c.10179T>C (p.Leu3393=)
c.5931T>C (p.Leu1977=)
c.9159T>C (p.Leu3053=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853688T>GCA462458185VPS13Bc.10374T>G (p.Leu3458=)
n.10444T>G
c.*6056T>G (n.*6056T>G)
c.10299T>G (p.Leu3433=)
c.10371T>G (p.Leu3457=)
c.10296T>G (p.Leu3432=)
c.9996T>G (p.Leu3332=)
c.7260T>G (p.Leu2420=)
c.6153T>G (p.Leu2051=)
c.10179T>G (p.Leu3393=)
c.5931T>G (p.Leu1977=)
c.9159T>G (p.Leu3053=)
8g.99853689T>ACA371781391VPS13Bc.10375T>A (p.Tyr3459Asn)
n.10445T>A
c.*6057T>A (n.*6057T>A)
c.10300T>A (p.Tyr3434Asn)
c.10372T>A (p.Tyr3458Asn)
c.10297T>A (p.Tyr3433Asn)
c.9997T>A (p.Tyr3333Asn)
c.7261T>A (p.Tyr2421Asn)
c.6154T>A (p.Tyr2052Asn)
c.10180T>A (p.Tyr3394Asn)
c.5932T>A (p.Tyr1978Asn)
c.9160T>A (p.Tyr3054Asn)
8g.99853689T>CCA371781393VPS13Bc.10375T>C (p.Tyr3459His)
n.10445T>C
c.*6057T>C (n.*6057T>C)
c.10300T>C (p.Tyr3434His)
c.10372T>C (p.Tyr3458His)
c.10297T>C (p.Tyr3433His)
c.9997T>C (p.Tyr3333His)
c.7261T>C (p.Tyr2421His)
c.6154T>C (p.Tyr2052His)
c.10180T>C (p.Tyr3394His)
c.5932T>C (p.Tyr1978His)
c.9160T>C (p.Tyr3054His)
8g.99853689T>GCA371781389VPS13Bc.10375T>G (p.Tyr3459Asp)
n.10445T>G
c.*6057T>G (n.*6057T>G)
c.10300T>G (p.Tyr3434Asp)
c.10372T>G (p.Tyr3458Asp)
c.10297T>G (p.Tyr3433Asp)
c.9997T>G (p.Tyr3333Asp)
c.7261T>G (p.Tyr2421Asp)
c.6154T>G (p.Tyr2052Asp)
c.10180T>G (p.Tyr3394Asp)
c.5932T>G (p.Tyr1978Asp)
c.9160T>G (p.Tyr3054Asp)
8g.99853690A>CCA371781397VPS13Bc.10376A>C (p.Tyr3459Ser)
n.10446A>C
c.*6058A>C (n.*6058A>C)
c.10301A>C (p.Tyr3434Ser)
c.10373A>C (p.Tyr3458Ser)
c.10298A>C (p.Tyr3433Ser)
c.9998A>C (p.Tyr3333Ser)
c.7262A>C (p.Tyr2421Ser)
c.6155A>C (p.Tyr2052Ser)
c.10181A>C (p.Tyr3394Ser)
c.5933A>C (p.Tyr1978Ser)
c.9161A>C (p.Tyr3054Ser)
 gnomAD v4
8g.99853690A>GCA371781395VPS13Bc.10376A>G (p.Tyr3459Cys)
n.10446A>G
c.*6058A>G (n.*6058A>G)
c.10301A>G (p.Tyr3434Cys)
c.10373A>G (p.Tyr3458Cys)
c.10298A>G (p.Tyr3433Cys)
c.9998A>G (p.Tyr3333Cys)
c.7262A>G (p.Tyr2421Cys)
c.6155A>G (p.Tyr2052Cys)
c.10181A>G (p.Tyr3394Cys)
c.5933A>G (p.Tyr1978Cys)
c.9161A>G (p.Tyr3054Cys)
8g.99853690A>TCA371781399VPS13Bc.10376A>T (p.Tyr3459Phe)
n.10446A>T
c.*6058A>T (n.*6058A>T)
c.10301A>T (p.Tyr3434Phe)
c.10373A>T (p.Tyr3458Phe)
c.10298A>T (p.Tyr3433Phe)
c.9998A>T (p.Tyr3333Phe)
c.7262A>T (p.Tyr2421Phe)
c.6155A>T (p.Tyr2052Phe)
c.10181A>T (p.Tyr3394Phe)
c.5933A>T (p.Tyr1978Phe)
c.9161A>T (p.Tyr3054Phe)
 gnomAD v4
8g.99853691T>ACA371781401VPS13Bc.10377T>A (p.Tyr3459Ter)
n.10447T>A
c.*6059T>A (n.*6059T>A)
c.10302T>A (p.Tyr3434Ter)
c.10374T>A (p.Tyr3458Ter)
c.10299T>A (p.Tyr3433Ter)
c.9999T>A (p.Tyr3333Ter)
c.7263T>A (p.Tyr2421Ter)
c.6156T>A (p.Tyr2052Ter)
c.10182T>A (p.Tyr3394Ter)
c.5934T>A (p.Tyr1978Ter)
c.9162T>A (p.Tyr3054Ter)
 ClinVar
8g.99853691T>CCA462458189VPS13Bc.10377T>C (p.Tyr3459=)
n.10447T>C
c.*6059T>C (n.*6059T>C)
c.10302T>C (p.Tyr3434=)
c.10374T>C (p.Tyr3458=)
c.10299T>C (p.Tyr3433=)
c.9999T>C (p.Tyr3333=)
c.7263T>C (p.Tyr2421=)
c.6156T>C (p.Tyr2052=)
c.10182T>C (p.Tyr3394=)
c.5934T>C (p.Tyr1978=)
c.9162T>C (p.Tyr3054=)
 gnomAD v4
8g.99853691T>GCA371781403VPS13Bc.10377T>G (p.Tyr3459Ter)
n.10447T>G
c.*6059T>G (n.*6059T>G)
c.10302T>G (p.Tyr3434Ter)
c.10374T>G (p.Tyr3458Ter)
c.10299T>G (p.Tyr3433Ter)
c.9999T>G (p.Tyr3333Ter)
c.7263T>G (p.Tyr2421Ter)
c.6156T>G (p.Tyr2052Ter)
c.10182T>G (p.Tyr3394Ter)
c.5934T>G (p.Tyr1978Ter)
c.9162T>G (p.Tyr3054Ter)
8g.99853692A>CCA371781438VPS13Bc.10378A>C (p.Asn3460His)
n.10448A>C
c.*6060A>C (n.*6060A>C)
c.10303A>C (p.Asn3435His)
c.10375A>C (p.Asn3459His)
c.10300A>C (p.Asn3434His)
c.10000A>C (p.Asn3334His)
c.7264A>C (p.Asn2422His)
c.6157A>C (p.Asn2053His)
c.10183A>C (p.Asn3395His)
c.5935A>C (p.Asn1979His)
c.9163A>C (p.Asn3055His)
8g.99853692A>GCA371781440VPS13Bc.10378A>G (p.Asn3460Asp)
n.10448A>G
c.*6060A>G (n.*6060A>G)
c.10303A>G (p.Asn3435Asp)
c.10375A>G (p.Asn3459Asp)
c.10300A>G (p.Asn3434Asp)
c.10000A>G (p.Asn3334Asp)
c.7264A>G (p.Asn2422Asp)
c.6157A>G (p.Asn2053Asp)
c.10183A>G (p.Asn3395Asp)
c.5935A>G (p.Asn1979Asp)
c.9163A>G (p.Asn3055Asp)
8g.99853692A>TCA371781442VPS13Bc.10378A>T (p.Asn3460Tyr)
n.10448A>T
c.*6060A>T (n.*6060A>T)
c.10303A>T (p.Asn3435Tyr)
c.10375A>T (p.Asn3459Tyr)
c.10300A>T (p.Asn3434Tyr)
c.10000A>T (p.Asn3334Tyr)
c.7264A>T (p.Asn2422Tyr)
c.6157A>T (p.Asn2053Tyr)
c.10183A>T (p.Asn3395Tyr)
c.5935A>T (p.Asn1979Tyr)
c.9163A>T (p.Asn3055Tyr)
8g.99853693A>CCA371781451VPS13Bc.10379A>C (p.Asn3460Thr)
n.10449A>C
c.*6061A>C (n.*6061A>C)
c.10304A>C (p.Asn3435Thr)
c.10376A>C (p.Asn3459Thr)
c.10301A>C (p.Asn3434Thr)
c.10001A>C (p.Asn3334Thr)
c.7265A>C (p.Asn2422Thr)
c.6158A>C (p.Asn2053Thr)
c.10184A>C (p.Asn3395Thr)
c.5936A>C (p.Asn1979Thr)
c.9164A>C (p.Asn3055Thr)
8g.99853693A>GCA371781454VPS13Bc.10379A>G (p.Asn3460Ser)
n.10449A>G
c.*6061A>G (n.*6061A>G)
c.10304A>G (p.Asn3435Ser)
c.10376A>G (p.Asn3459Ser)
c.10301A>G (p.Asn3434Ser)
c.10001A>G (p.Asn3334Ser)
c.7265A>G (p.Asn2422Ser)
c.6158A>G (p.Asn2053Ser)
c.10184A>G (p.Asn3395Ser)
c.5936A>G (p.Asn1979Ser)
c.9164A>G (p.Asn3055Ser)
8g.99853693A>TCA371781456VPS13Bc.10379A>T (p.Asn3460Ile)
n.10449A>T
c.*6061A>T (n.*6061A>T)
c.10304A>T (p.Asn3435Ile)
c.10376A>T (p.Asn3459Ile)
c.10301A>T (p.Asn3434Ile)
c.10001A>T (p.Asn3334Ile)
c.7265A>T (p.Asn2422Ile)
c.6158A>T (p.Asn2053Ile)
c.10184A>T (p.Asn3395Ile)
c.5936A>T (p.Asn1979Ile)
c.9164A>T (p.Asn3055Ile)
8g.99853694C>ACA371781457VPS13Bc.10380C>A (p.Asn3460Lys)
n.10450C>A
c.*6062C>A (n.*6062C>A)
c.10305C>A (p.Asn3435Lys)
c.10377C>A (p.Asn3459Lys)
c.10302C>A (p.Asn3434Lys)
c.10002C>A (p.Asn3334Lys)
c.7266C>A (p.Asn2422Lys)
c.6159C>A (p.Asn2053Lys)
c.10185C>A (p.Asn3395Lys)
c.5937C>A (p.Asn1979Lys)
c.9165C>A (p.Asn3055Lys)
8g.99853694C>GCA371781459VPS13Bc.10380C>G (p.Asn3460Lys)
n.10450C>G
c.*6062C>G (n.*6062C>G)
c.10305C>G (p.Asn3435Lys)
c.10377C>G (p.Asn3459Lys)
c.10302C>G (p.Asn3434Lys)
c.10002C>G (p.Asn3334Lys)
c.7266C>G (p.Asn2422Lys)
c.6159C>G (p.Asn2053Lys)
c.10185C>G (p.Asn3395Lys)
c.5937C>G (p.Asn1979Lys)
c.9165C>G (p.Asn3055Lys)
8g.99853694C>TCA462458191VPS13Bc.10380C>T (p.Asn3460=)
n.10450C>T
c.*6062C>T (n.*6062C>T)
c.10305C>T (p.Asn3435=)
c.10377C>T (p.Asn3459=)
c.10302C>T (p.Asn3434=)
c.10002C>T (p.Asn3334=)
c.7266C>T (p.Asn2422=)
c.6159C>T (p.Asn2053=)
c.10185C>T (p.Asn3395=)
c.5937C>T (p.Asn1979=)
c.9165C>T (p.Asn3055=)
8g.99853695A>CCA371781462VPS13Bc.10381A>C (p.Lys3461Gln)
n.10451A>C
c.*6063A>C (n.*6063A>C)
c.10306A>C (p.Lys3436Gln)
c.10378A>C (p.Lys3460Gln)
c.10303A>C (p.Lys3435Gln)
c.10003A>C (p.Lys3335Gln)
c.7267A>C (p.Lys2423Gln)
c.6160A>C (p.Lys2054Gln)
c.10186A>C (p.Lys3396Gln)
c.5938A>C (p.Lys1980Gln)
c.9166A>C (p.Lys3056Gln)
8g.99853695A>GCA371781464VPS13Bc.10381A>G (p.Lys3461Glu)
n.10451A>G
c.*6063A>G (n.*6063A>G)
c.10306A>G (p.Lys3436Glu)
c.10378A>G (p.Lys3460Glu)
c.10303A>G (p.Lys3435Glu)
c.10003A>G (p.Lys3335Glu)
c.7267A>G (p.Lys2423Glu)
c.6160A>G (p.Lys2054Glu)
c.10186A>G (p.Lys3396Glu)
c.5938A>G (p.Lys1980Glu)
c.9166A>G (p.Lys3056Glu)
 gnomAD v4
8g.99853695A>TCA371781465VPS13Bc.10381A>T (p.Lys3461Ter)
n.10451A>T
c.*6063A>T (n.*6063A>T)
c.10306A>T (p.Lys3436Ter)
c.10378A>T (p.Lys3460Ter)
c.10303A>T (p.Lys3435Ter)
c.10003A>T (p.Lys3335Ter)
c.7267A>T (p.Lys2423Ter)
c.6160A>T (p.Lys2054Ter)
c.10186A>T (p.Lys3396Ter)
c.5938A>T (p.Lys1980Ter)
c.9166A>T (p.Lys3056Ter)
8g.99853696A>CCA371781470VPS13Bc.10382A>C (p.Lys3461Thr)
n.10452A>C
c.*6064A>C (n.*6064A>C)
c.10307A>C (p.Lys3436Thr)
c.10379A>C (p.Lys3460Thr)
c.10304A>C (p.Lys3435Thr)
c.10004A>C (p.Lys3335Thr)
c.7268A>C (p.Lys2423Thr)
c.6161A>C (p.Lys2054Thr)
c.10187A>C (p.Lys3396Thr)
c.5939A>C (p.Lys1980Thr)
c.9167A>C (p.Lys3056Thr)
 ClinVar dbSNP gnomAD v4
8g.99853696A>GCA371781467VPS13Bc.10382A>G (p.Lys3461Arg)
n.10452A>G
c.*6064A>G (n.*6064A>G)
c.10307A>G (p.Lys3436Arg)
c.10379A>G (p.Lys3460Arg)
c.10304A>G (p.Lys3435Arg)
c.10004A>G (p.Lys3335Arg)
c.7268A>G (p.Lys2423Arg)
c.6161A>G (p.Lys2054Arg)
c.10187A>G (p.Lys3396Arg)
c.5939A>G (p.Lys1980Arg)
c.9167A>G (p.Lys3056Arg)
8g.99853696A>TCA371781468VPS13Bc.10382A>T (p.Lys3461Met)
n.10452A>T
c.*6064A>T (n.*6064A>T)
c.10307A>T (p.Lys3436Met)
c.10379A>T (p.Lys3460Met)
c.10304A>T (p.Lys3435Met)
c.10004A>T (p.Lys3335Met)
c.7268A>T (p.Lys2423Met)
c.6161A>T (p.Lys2054Met)
c.10187A>T (p.Lys3396Met)
c.5939A>T (p.Lys1980Met)
c.9167A>T (p.Lys3056Met)
8g.99853697G>ACA462458192VPS13Bc.10383G>A (p.Lys3461=)
n.10453G>A
c.*6065G>A (n.*6065G>A)
c.10308G>A (p.Lys3436=)
c.10380G>A (p.Lys3460=)
c.10305G>A (p.Lys3435=)
c.10005G>A (p.Lys3335=)
c.7269G>A (p.Lys2423=)
c.6162G>A (p.Lys2054=)
c.10188G>A (p.Lys3396=)
c.5940G>A (p.Lys1980=)
c.9168G>A (p.Lys3056=)
 gnomAD v4 COSMIC COSMIC
8g.99853697G>CCA371781474VPS13Bc.10383G>C (p.Lys3461Asn)
n.10453G>C
c.*6065G>C (n.*6065G>C)
c.10308G>C (p.Lys3436Asn)
c.10380G>C (p.Lys3460Asn)
c.10305G>C (p.Lys3435Asn)
c.10005G>C (p.Lys3335Asn)
c.7269G>C (p.Lys2423Asn)
c.6162G>C (p.Lys2054Asn)
c.10188G>C (p.Lys3396Asn)
c.5940G>C (p.Lys1980Asn)
c.9168G>C (p.Lys3056Asn)
8g.99853697G>TCA371781476VPS13Bc.10383G>T (p.Lys3461Asn)
n.10453G>T
c.*6065G>T (n.*6065G>T)
c.10308G>T (p.Lys3436Asn)
c.10380G>T (p.Lys3460Asn)
c.10305G>T (p.Lys3435Asn)
c.10005G>T (p.Lys3335Asn)
c.7269G>T (p.Lys2423Asn)
c.6162G>T (p.Lys2054Asn)
c.10188G>T (p.Lys3396Asn)
c.5940G>T (p.Lys1980Asn)
c.9168G>T (p.Lys3056Asn)
8g.99853698T>ACA371781477VPS13Bc.10384T>A (p.Ser3462Thr)
n.10454T>A
c.*6066T>A (n.*6066T>A)
c.10309T>A (p.Ser3437Thr)
c.10381T>A (p.Ser3461Thr)
c.10306T>A (p.Ser3436Thr)
c.10006T>A (p.Ser3336Thr)
c.7270T>A (p.Ser2424Thr)
c.6163T>A (p.Ser2055Thr)
c.10189T>A (p.Ser3397Thr)
c.5941T>A (p.Ser1981Thr)
c.9169T>A (p.Ser3057Thr)
8g.99853698T>CCA371781479VPS13Bc.10384T>C (p.Ser3462Pro)
n.10454T>C
c.*6066T>C (n.*6066T>C)
c.10309T>C (p.Ser3437Pro)
c.10381T>C (p.Ser3461Pro)
c.10306T>C (p.Ser3436Pro)
c.10006T>C (p.Ser3336Pro)
c.7270T>C (p.Ser2424Pro)
c.6163T>C (p.Ser2055Pro)
c.10189T>C (p.Ser3397Pro)
c.5941T>C (p.Ser1981Pro)
c.9169T>C (p.Ser3057Pro)
8g.99853698T>GCA371781481VPS13Bc.10384T>G (p.Ser3462Ala)
n.10454T>G
c.*6066T>G (n.*6066T>G)
c.10309T>G (p.Ser3437Ala)
c.10381T>G (p.Ser3461Ala)
c.10306T>G (p.Ser3436Ala)
c.10006T>G (p.Ser3336Ala)
c.7270T>G (p.Ser2424Ala)
c.6163T>G (p.Ser2055Ala)
c.10189T>G (p.Ser3397Ala)
c.5941T>G (p.Ser1981Ala)
c.9169T>G (p.Ser3057Ala)
8g.99853699C>ACA371781485VPS13Bc.10385C>A (p.Ser3462Tyr)
n.10455C>A
c.*6067C>A (n.*6067C>A)
c.10310C>A (p.Ser3437Tyr)
c.10382C>A (p.Ser3461Tyr)
c.10307C>A (p.Ser3436Tyr)
c.10007C>A (p.Ser3336Tyr)
c.7271C>A (p.Ser2424Tyr)
c.6164C>A (p.Ser2055Tyr)
c.10190C>A (p.Ser3397Tyr)
c.5942C>A (p.Ser1981Tyr)
c.9170C>A (p.Ser3057Tyr)
8g.99853699C>GCA371781487VPS13Bc.10385C>G (p.Ser3462Cys)
n.10455C>G
c.*6067C>G (n.*6067C>G)
c.10310C>G (p.Ser3437Cys)
c.10382C>G (p.Ser3461Cys)
c.10307C>G (p.Ser3436Cys)
c.10007C>G (p.Ser3336Cys)
c.7271C>G (p.Ser2424Cys)
c.6164C>G (p.Ser2055Cys)
c.10190C>G (p.Ser3397Cys)
c.5942C>G (p.Ser1981Cys)
c.9170C>G (p.Ser3057Cys)
8g.99853699C>TCA4824928VPS13Bc.10385C>T (p.Ser3462Phe)
n.10455C>T
c.*6067C>T (n.*6067C>T)
c.10310C>T (p.Ser3437Phe)
c.10382C>T (p.Ser3461Phe)
c.10307C>T (p.Ser3436Phe)
c.10007C>T (p.Ser3336Phe)
c.7271C>T (p.Ser2424Phe)
c.6164C>T (p.Ser2055Phe)
c.10190C>T (p.Ser3397Phe)
c.5942C>T (p.Ser1981Phe)
c.9170C>T (p.Ser3057Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853700C>ACA462458194VPS13Bc.10386C>A (p.Ser3462=)
n.10456C>A
c.*6068C>A (n.*6068C>A)
c.10311C>A (p.Ser3437=)
c.10383C>A (p.Ser3461=)
c.10308C>A (p.Ser3436=)
c.10008C>A (p.Ser3336=)
c.7272C>A (p.Ser2424=)
c.6165C>A (p.Ser2055=)
c.10191C>A (p.Ser3397=)
c.5943C>A (p.Ser1981=)
c.9171C>A (p.Ser3057=)
8g.99853700C>GCA462458196VPS13Bc.10386C>G (p.Ser3462=)
n.10456C>G
c.*6068C>G (n.*6068C>G)
c.10311C>G (p.Ser3437=)
c.10383C>G (p.Ser3461=)
c.10308C>G (p.Ser3436=)
c.10008C>G (p.Ser3336=)
c.7272C>G (p.Ser2424=)
c.6165C>G (p.Ser2055=)
c.10191C>G (p.Ser3397=)
c.5943C>G (p.Ser1981=)
c.9171C>G (p.Ser3057=)
8g.99853700C>TCA462458195VPS13Bc.10386C>T (p.Ser3462=)
n.10456C>T
c.*6068C>T (n.*6068C>T)
c.10311C>T (p.Ser3437=)
c.10383C>T (p.Ser3461=)
c.10308C>T (p.Ser3436=)
c.10008C>T (p.Ser3336=)
c.7272C>T (p.Ser2424=)
c.6165C>T (p.Ser2055=)
c.10191C>T (p.Ser3397=)
c.5943C>T (p.Ser1981=)
c.9171C>T (p.Ser3057=)
8g.99853701A>CCA371781492VPS13Bc.10387A>C (p.Asn3463His)
n.10457A>C
c.*6069A>C (n.*6069A>C)
c.10312A>C (p.Asn3438His)
c.10384A>C (p.Asn3462His)
c.10309A>C (p.Asn3437His)
c.10009A>C (p.Asn3337His)
c.7273A>C (p.Asn2425His)
c.6166A>C (p.Asn2056His)
c.10192A>C (p.Asn3398His)
c.5944A>C (p.Asn1982His)
c.9172A>C (p.Asn3058His)
 dbSNP
8g.99853701A>GCA371781494VPS13Bc.10387A>G (p.Asn3463Asp)
n.10457A>G
c.*6069A>G (n.*6069A>G)
c.10312A>G (p.Asn3438Asp)
c.10384A>G (p.Asn3462Asp)
c.10309A>G (p.Asn3437Asp)
c.10009A>G (p.Asn3337Asp)
c.7273A>G (p.Asn2425Asp)
c.6166A>G (p.Asn2056Asp)
c.10192A>G (p.Asn3398Asp)
c.5944A>G (p.Asn1982Asp)
c.9172A>G (p.Asn3058Asp)
8g.99853701A>TCA371781497VPS13Bc.10387A>T (p.Asn3463Tyr)
n.10457A>T
c.*6069A>T (n.*6069A>T)
c.10312A>T (p.Asn3438Tyr)
c.10384A>T (p.Asn3462Tyr)
c.10309A>T (p.Asn3437Tyr)
c.10009A>T (p.Asn3337Tyr)
c.7273A>T (p.Asn2425Tyr)
c.6166A>T (p.Asn2056Tyr)
c.10192A>T (p.Asn3398Tyr)
c.5944A>T (p.Asn1982Tyr)
c.9172A>T (p.Asn3058Tyr)
8g.99853702A>CCA371781502VPS13Bc.10388A>C (p.Asn3463Thr)
n.10458A>C
c.*6070A>C (n.*6070A>C)
c.10313A>C (p.Asn3438Thr)
c.10385A>C (p.Asn3462Thr)
c.10310A>C (p.Asn3437Thr)
c.10010A>C (p.Asn3337Thr)
c.7274A>C (p.Asn2425Thr)
c.6167A>C (p.Asn2056Thr)
c.10193A>C (p.Asn3398Thr)
c.5945A>C (p.Asn1982Thr)
c.9173A>C (p.Asn3058Thr)
8g.99853702A>GCA246442VPS13Bc.10388A>G (p.Asn3463Ser)
n.10458A>G
c.*6070A>G (n.*6070A>G)
c.10313A>G (p.Asn3438Ser)
c.10385A>G (p.Asn3462Ser)
c.10310A>G (p.Asn3437Ser)
c.10010A>G (p.Asn3337Ser)
c.7274A>G (p.Asn2425Ser)
c.6167A>G (p.Asn2056Ser)
c.10193A>G (p.Asn3398Ser)
c.5945A>G (p.Asn1982Ser)
c.9173A>G (p.Asn3058Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853702A>TCA371781499VPS13Bc.10388A>T (p.Asn3463Ile)
n.10458A>T
c.*6070A>T (n.*6070A>T)
c.10313A>T (p.Asn3438Ile)
c.10385A>T (p.Asn3462Ile)
c.10310A>T (p.Asn3437Ile)
c.10010A>T (p.Asn3337Ile)
c.7274A>T (p.Asn2425Ile)
c.6167A>T (p.Asn2056Ile)
c.10193A>T (p.Asn3398Ile)
c.5945A>T (p.Asn1982Ile)
c.9173A>T (p.Asn3058Ile)
8g.99853703T>ACA371781504VPS13Bc.10389T>A (p.Asn3463Lys)
n.10459T>A
c.*6071T>A (n.*6071T>A)
c.10314T>A (p.Asn3438Lys)
c.10386T>A (p.Asn3462Lys)
c.10311T>A (p.Asn3437Lys)
c.10011T>A (p.Asn3337Lys)
c.7275T>A (p.Asn2425Lys)
c.6168T>A (p.Asn2056Lys)
c.10194T>A (p.Asn3398Lys)
c.5946T>A (p.Asn1982Lys)
c.9174T>A (p.Asn3058Lys)
8g.99853703T>CCA462458198VPS13Bc.10389T>C (p.Asn3463=)
n.10459T>C
c.*6071T>C (n.*6071T>C)
c.10314T>C (p.Asn3438=)
c.10386T>C (p.Asn3462=)
c.10311T>C (p.Asn3437=)
c.10011T>C (p.Asn3337=)
c.7275T>C (p.Asn2425=)
c.6168T>C (p.Asn2056=)
c.10194T>C (p.Asn3398=)
c.5946T>C (p.Asn1982=)
c.9174T>C (p.Asn3058=)
8g.99853703T>GCA371781507VPS13Bc.10389T>G (p.Asn3463Lys)
n.10459T>G
c.*6071T>G (n.*6071T>G)
c.10314T>G (p.Asn3438Lys)
c.10386T>G (p.Asn3462Lys)
c.10311T>G (p.Asn3437Lys)
c.10011T>G (p.Asn3337Lys)
c.7275T>G (p.Asn2425Lys)
c.6168T>G (p.Asn2056Lys)
c.10194T>G (p.Asn3398Lys)
c.5946T>G (p.Asn1982Lys)
c.9174T>G (p.Asn3058Lys)
8g.99853704T>ACA371781510VPS13Bc.10390T>A (p.Phe3464Ile)
n.10460T>A
c.*6072T>A (n.*6072T>A)
c.10315T>A (p.Phe3439Ile)
c.10387T>A (p.Phe3463Ile)
c.10312T>A (p.Phe3438Ile)
c.10012T>A (p.Phe3338Ile)
c.7276T>A (p.Phe2426Ile)
c.6169T>A (p.Phe2057Ile)
c.10195T>A (p.Phe3399Ile)
c.5947T>A (p.Phe1983Ile)
c.9175T>A (p.Phe3059Ile)
8g.99853704T>CCA371781512VPS13Bc.10390T>C (p.Phe3464Leu)
n.10460T>C
c.*6072T>C (n.*6072T>C)
c.10315T>C (p.Phe3439Leu)
c.10387T>C (p.Phe3463Leu)
c.10312T>C (p.Phe3438Leu)
c.10012T>C (p.Phe3338Leu)
c.7276T>C (p.Phe2426Leu)
c.6169T>C (p.Phe2057Leu)
c.10195T>C (p.Phe3399Leu)
c.5947T>C (p.Phe1983Leu)
c.9175T>C (p.Phe3059Leu)
8g.99853704T>GCA371781513VPS13Bc.10390T>G (p.Phe3464Val)
n.10460T>G
c.*6072T>G (n.*6072T>G)
c.10315T>G (p.Phe3439Val)
c.10387T>G (p.Phe3463Val)
c.10312T>G (p.Phe3438Val)
c.10012T>G (p.Phe3338Val)
c.7276T>G (p.Phe2426Val)
c.6169T>G (p.Phe2057Val)
c.10195T>G (p.Phe3399Val)
c.5947T>G (p.Phe1983Val)
c.9175T>G (p.Phe3059Val)
8g.99853705T>ACA371781515VPS13Bc.10391T>A (p.Phe3464Tyr)
n.10461T>A
c.*6073T>A (n.*6073T>A)
c.10316T>A (p.Phe3439Tyr)
c.10388T>A (p.Phe3463Tyr)
c.10313T>A (p.Phe3438Tyr)
c.10013T>A (p.Phe3338Tyr)
c.7277T>A (p.Phe2426Tyr)
c.6170T>A (p.Phe2057Tyr)
c.10196T>A (p.Phe3399Tyr)
c.5948T>A (p.Phe1983Tyr)
c.9176T>A (p.Phe3059Tyr)
8g.99853705T>CCA371781518VPS13Bc.10391T>C (p.Phe3464Ser)
n.10461T>C
c.*6073T>C (n.*6073T>C)
c.10316T>C (p.Phe3439Ser)
c.10388T>C (p.Phe3463Ser)
c.10313T>C (p.Phe3438Ser)
c.10013T>C (p.Phe3338Ser)
c.7277T>C (p.Phe2426Ser)
c.6170T>C (p.Phe2057Ser)
c.10196T>C (p.Phe3399Ser)
c.5948T>C (p.Phe1983Ser)
c.9176T>C (p.Phe3059Ser)
8g.99853705T>GCA371781521VPS13Bc.10391T>G (p.Phe3464Cys)
n.10461T>G
c.*6073T>G (n.*6073T>G)
c.10316T>G (p.Phe3439Cys)
c.10388T>G (p.Phe3463Cys)
c.10313T>G (p.Phe3438Cys)
c.10013T>G (p.Phe3338Cys)
c.7277T>G (p.Phe2426Cys)
c.6170T>G (p.Phe2057Cys)
c.10196T>G (p.Phe3399Cys)
c.5948T>G (p.Phe1983Cys)
c.9176T>G (p.Phe3059Cys)
8g.99853706C>ACA371781524VPS13Bc.10392C>A (p.Phe3464Leu)
n.10462C>A
c.*6074C>A (n.*6074C>A)
c.10317C>A (p.Phe3439Leu)
c.10389C>A (p.Phe3463Leu)
c.10314C>A (p.Phe3438Leu)
c.10014C>A (p.Phe3338Leu)
c.7278C>A (p.Phe2426Leu)
c.6171C>A (p.Phe2057Leu)
c.10197C>A (p.Phe3399Leu)
c.5949C>A (p.Phe1983Leu)
c.9177C>A (p.Phe3059Leu)
8g.99853706C>GCA371781526VPS13Bc.10392C>G (p.Phe3464Leu)
n.10462C>G
c.*6074C>G (n.*6074C>G)
c.10317C>G (p.Phe3439Leu)
c.10389C>G (p.Phe3463Leu)
c.10314C>G (p.Phe3438Leu)
c.10014C>G (p.Phe3338Leu)
c.7278C>G (p.Phe2426Leu)
c.6171C>G (p.Phe2057Leu)
c.10197C>G (p.Phe3399Leu)
c.5949C>G (p.Phe1983Leu)
c.9177C>G (p.Phe3059Leu)
 gnomAD v4
8g.99853706C>TCA462458199VPS13Bc.10392C>T (p.Phe3464=)
n.10462C>T
c.*6074C>T (n.*6074C>T)
c.10317C>T (p.Phe3439=)
c.10389C>T (p.Phe3463=)
c.10314C>T (p.Phe3438=)
c.10014C>T (p.Phe3338=)
c.7278C>T (p.Phe2426=)
c.6171C>T (p.Phe2057=)
c.10197C>T (p.Phe3399=)
c.5949C>T (p.Phe1983=)
c.9177C>T (p.Phe3059=)
8g.99853707C>ACA371781530VPS13Bc.10393C>A (p.His3465Asn)
n.10463C>A
c.*6075C>A (n.*6075C>A)
c.10318C>A (p.His3440Asn)
c.10390C>A (p.His3464Asn)
c.10315C>A (p.His3439Asn)
c.10015C>A (p.His3339Asn)
c.7279C>A (p.His2427Asn)
c.6172C>A (p.His2058Asn)
c.10198C>A (p.His3400Asn)
c.5950C>A (p.His1984Asn)
c.9178C>A (p.His3060Asn)
8g.99853707C>GCA371781532VPS13Bc.10393C>G (p.His3465Asp)
n.10463C>G
c.*6075C>G (n.*6075C>G)
c.10318C>G (p.His3440Asp)
c.10390C>G (p.His3464Asp)
c.10315C>G (p.His3439Asp)
c.10015C>G (p.His3339Asp)
c.7279C>G (p.His2427Asp)
c.6172C>G (p.His2058Asp)
c.10198C>G (p.His3400Asp)
c.5950C>G (p.His1984Asp)
c.9178C>G (p.His3060Asp)
8g.99853707C>TCA4824929VPS13Bc.10393C>T (p.His3465Tyr)
n.10463C>T
c.*6075C>T (n.*6075C>T)
c.10318C>T (p.His3440Tyr)
c.10390C>T (p.His3464Tyr)
c.10315C>T (p.His3439Tyr)
c.10015C>T (p.His3339Tyr)
c.7279C>T (p.His2427Tyr)
c.6172C>T (p.His2058Tyr)
c.10198C>T (p.His3400Tyr)
c.5950C>T (p.His1984Tyr)
c.9178C>T (p.His3060Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853708A>CCA371781541VPS13Bc.10394A>C (p.His3465Pro)
n.10464A>C
c.*6076A>C (n.*6076A>C)
c.10319A>C (p.His3440Pro)
c.10391A>C (p.His3464Pro)
c.10316A>C (p.His3439Pro)
c.10016A>C (p.His3339Pro)
c.7280A>C (p.His2427Pro)
c.6173A>C (p.His2058Pro)
c.10199A>C (p.His3400Pro)
c.5951A>C (p.His1984Pro)
c.9179A>C (p.His3060Pro)
8g.99853708A>GCA4824930VPS13Bc.10394A>G (p.His3465Arg)
n.10464A>G
c.*6076A>G (n.*6076A>G)
c.10319A>G (p.His3440Arg)
c.10391A>G (p.His3464Arg)
c.10316A>G (p.His3439Arg)
c.10016A>G (p.His3339Arg)
c.7280A>G (p.His2427Arg)
c.6173A>G (p.His2058Arg)
c.10199A>G (p.His3400Arg)
c.5951A>G (p.His1984Arg)
c.9179A>G (p.His3060Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853708A>TCA371781538VPS13Bc.10394A>T (p.His3465Leu)
n.10464A>T
c.*6076A>T (n.*6076A>T)
c.10319A>T (p.His3440Leu)
c.10391A>T (p.His3464Leu)
c.10316A>T (p.His3439Leu)
c.10016A>T (p.His3339Leu)
c.7280A>T (p.His2427Leu)
c.6173A>T (p.His2058Leu)
c.10199A>T (p.His3400Leu)
c.5951A>T (p.His1984Leu)
c.9179A>T (p.His3060Leu)
8g.99853709C>ACA371781544VPS13Bc.10395C>A (p.His3465Gln)
n.10465C>A
c.*6077C>A (n.*6077C>A)
c.10320C>A (p.His3440Gln)
c.10392C>A (p.His3464Gln)
c.10317C>A (p.His3439Gln)
c.10017C>A (p.His3339Gln)
c.7281C>A (p.His2427Gln)
c.6174C>A (p.His2058Gln)
c.10200C>A (p.His3400Gln)
c.5952C>A (p.His1984Gln)
c.9180C>A (p.His3060Gln)
 COSMIC COSMIC
8g.99853709C>GCA371781546VPS13Bc.10395C>G (p.His3465Gln)
n.10465C>G
c.*6077C>G (n.*6077C>G)
c.10320C>G (p.His3440Gln)
c.10392C>G (p.His3464Gln)
c.10317C>G (p.His3439Gln)
c.10017C>G (p.His3339Gln)
c.7281C>G (p.His2427Gln)
c.6174C>G (p.His2058Gln)
c.10200C>G (p.His3400Gln)
c.5952C>G (p.His1984Gln)
c.9180C>G (p.His3060Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853709C>TCA4824931VPS13Bc.10395C>T (p.His3465=)
n.10465C>T
c.*6077C>T (n.*6077C>T)
c.10320C>T (p.His3440=)
c.10392C>T (p.His3464=)
c.10317C>T (p.His3439=)
c.10017C>T (p.His3339=)
c.7281C>T (p.His2427=)
c.6174C>T (p.His2058=)
c.10200C>T (p.His3400=)
c.5952C>T (p.His1984=)
c.9180C>T (p.His3060=)
 ClinVar dbSNP ExAC
8g.99853710T>ACA371781551VPS13Bc.10396T>A (p.Phe3466Ile)
n.10466T>A
c.*6078T>A (n.*6078T>A)
c.10321T>A (p.Phe3441Ile)
c.10393T>A (p.Phe3465Ile)
c.10318T>A (p.Phe3440Ile)
c.10018T>A (p.Phe3340Ile)
c.7282T>A (p.Phe2428Ile)
c.6175T>A (p.Phe2059Ile)
c.10201T>A (p.Phe3401Ile)
c.5953T>A (p.Phe1985Ile)
c.9181T>A (p.Phe3061Ile)
8g.99853710T>CCA371781553VPS13Bc.10396T>C (p.Phe3466Leu)
n.10466T>C
c.*6078T>C (n.*6078T>C)
c.10321T>C (p.Phe3441Leu)
c.10393T>C (p.Phe3465Leu)
c.10318T>C (p.Phe3440Leu)
c.10018T>C (p.Phe3340Leu)
c.7282T>C (p.Phe2428Leu)
c.6175T>C (p.Phe2059Leu)
c.10201T>C (p.Phe3401Leu)
c.5953T>C (p.Phe1985Leu)
c.9181T>C (p.Phe3061Leu)
8g.99853710T>GCA371781560VPS13Bc.10396T>G (p.Phe3466Val)
n.10466T>G
c.*6078T>G (n.*6078T>G)
c.10321T>G (p.Phe3441Val)
c.10393T>G (p.Phe3465Val)
c.10318T>G (p.Phe3440Val)
c.10018T>G (p.Phe3340Val)
c.7282T>G (p.Phe2428Val)
c.6175T>G (p.Phe2059Val)
c.10201T>G (p.Phe3401Val)
c.5953T>G (p.Phe1985Val)
c.9181T>G (p.Phe3061Val)
8g.99853711T>ACA371781562VPS13Bc.10397T>A (p.Phe3466Tyr)
n.10467T>A
c.*6079T>A (n.*6079T>A)
c.10322T>A (p.Phe3441Tyr)
c.10394T>A (p.Phe3465Tyr)
c.10319T>A (p.Phe3440Tyr)
c.10019T>A (p.Phe3340Tyr)
c.7283T>A (p.Phe2428Tyr)
c.6176T>A (p.Phe2059Tyr)
c.10202T>A (p.Phe3401Tyr)
c.5954T>A (p.Phe1985Tyr)
c.9182T>A (p.Phe3061Tyr)
8g.99853711T>CCA371781563VPS13Bc.10397T>C (p.Phe3466Ser)
n.10467T>C
c.*6079T>C (n.*6079T>C)
c.10322T>C (p.Phe3441Ser)
c.10394T>C (p.Phe3465Ser)
c.10319T>C (p.Phe3440Ser)
c.10019T>C (p.Phe3340Ser)
c.7283T>C (p.Phe2428Ser)
c.6176T>C (p.Phe2059Ser)
c.10202T>C (p.Phe3401Ser)
c.5954T>C (p.Phe1985Ser)
c.9182T>C (p.Phe3061Ser)
8g.99853711T>GCA371781564VPS13Bc.10397T>G (p.Phe3466Cys)
n.10467T>G
c.*6079T>G (n.*6079T>G)
c.10322T>G (p.Phe3441Cys)
c.10394T>G (p.Phe3465Cys)
c.10319T>G (p.Phe3440Cys)
c.10019T>G (p.Phe3340Cys)
c.7283T>G (p.Phe2428Cys)
c.6176T>G (p.Phe2059Cys)
c.10202T>G (p.Phe3401Cys)
c.5954T>G (p.Phe1985Cys)
c.9182T>G (p.Phe3061Cys)
8g.99853712T>ACA371781566VPS13Bc.10398T>A (p.Phe3466Leu)
n.10468T>A
c.*6080T>A (n.*6080T>A)
c.10323T>A (p.Phe3441Leu)
c.10395T>A (p.Phe3465Leu)
c.10320T>A (p.Phe3440Leu)
c.10020T>A (p.Phe3340Leu)
c.7284T>A (p.Phe2428Leu)
c.6177T>A (p.Phe2059Leu)
c.10203T>A (p.Phe3401Leu)
c.5955T>A (p.Phe1985Leu)
c.9183T>A (p.Phe3061Leu)
8g.99853712T>CCA462458202VPS13Bc.10398T>C (p.Phe3466=)
n.10468T>C
c.*6080T>C (n.*6080T>C)
c.10323T>C (p.Phe3441=)
c.10395T>C (p.Phe3465=)
c.10320T>C (p.Phe3440=)
c.10020T>C (p.Phe3340=)
c.7284T>C (p.Phe2428=)
c.6177T>C (p.Phe2059=)
c.10203T>C (p.Phe3401=)
c.5955T>C (p.Phe1985=)
c.9183T>C (p.Phe3061=)
 dbSNP gnomAD v3 gnomAD v4
8g.99853712T>GCA4824932VPS13Bc.10398T>G (p.Phe3466Leu)
n.10468T>G
c.*6080T>G (n.*6080T>G)
c.10323T>G (p.Phe3441Leu)
c.10395T>G (p.Phe3465Leu)
c.10320T>G (p.Phe3440Leu)
c.10020T>G (p.Phe3340Leu)
c.7284T>G (p.Phe2428Leu)
c.6177T>G (p.Phe2059Leu)
c.10203T>G (p.Phe3401Leu)
c.5955T>G (p.Phe1985Leu)
c.9183T>G (p.Phe3061Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853713G>ACA371781575VPS13Bc.10399G>A (p.Ala3467Thr)
n.10469G>A
c.*6081G>A (n.*6081G>A)
c.10324G>A (p.Ala3442Thr)
c.10396G>A (p.Ala3466Thr)
c.10321G>A (p.Ala3441Thr)
c.10021G>A (p.Ala3341Thr)
c.7285G>A (p.Ala2429Thr)
c.6178G>A (p.Ala2060Thr)
c.10204G>A (p.Ala3402Thr)
c.5956G>A (p.Ala1986Thr)
c.9184G>A (p.Ala3062Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853713G>CCA371781574VPS13Bc.10399G>C (p.Ala3467Pro)
n.10469G>C
c.*6081G>C (n.*6081G>C)
c.10324G>C (p.Ala3442Pro)
c.10396G>C (p.Ala3466Pro)
c.10321G>C (p.Ala3441Pro)
c.10021G>C (p.Ala3341Pro)
c.7285G>C (p.Ala2429Pro)
c.6178G>C (p.Ala2060Pro)
c.10204G>C (p.Ala3402Pro)
c.5956G>C (p.Ala1986Pro)
c.9184G>C (p.Ala3062Pro)
8g.99853713G>TCA371781571VPS13Bc.10399G>T (p.Ala3467Ser)
n.10469G>T
c.*6081G>T (n.*6081G>T)
c.10324G>T (p.Ala3442Ser)
c.10396G>T (p.Ala3466Ser)
c.10321G>T (p.Ala3441Ser)
c.10021G>T (p.Ala3341Ser)
c.7285G>T (p.Ala2429Ser)
c.6178G>T (p.Ala2060Ser)
c.10204G>T (p.Ala3402Ser)
c.5956G>T (p.Ala1986Ser)
c.9184G>T (p.Ala3062Ser)
8g.99853714C>ACA371781577VPS13Bc.10400C>A (p.Ala3467Asp)
n.10470C>A
c.*6082C>A (n.*6082C>A)
c.10325C>A (p.Ala3442Asp)
c.10397C>A (p.Ala3466Asp)
c.10322C>A (p.Ala3441Asp)
c.10022C>A (p.Ala3341Asp)
c.7286C>A (p.Ala2429Asp)
c.6179C>A (p.Ala2060Asp)
c.10205C>A (p.Ala3402Asp)
c.5957C>A (p.Ala1986Asp)
c.9185C>A (p.Ala3062Asp)
8g.99853714C>GCA371781582VPS13Bc.10400C>G (p.Ala3467Gly)
n.10470C>G
c.*6082C>G (n.*6082C>G)
c.10325C>G (p.Ala3442Gly)
c.10397C>G (p.Ala3466Gly)
c.10322C>G (p.Ala3441Gly)
c.10022C>G (p.Ala3341Gly)
c.7286C>G (p.Ala2429Gly)
c.6179C>G (p.Ala2060Gly)
c.10205C>G (p.Ala3402Gly)
c.5957C>G (p.Ala1986Gly)
c.9185C>G (p.Ala3062Gly)
8g.99853714C>TCA371781579VPS13Bc.10400C>T (p.Ala3467Val)
n.10470C>T
c.*6082C>T (n.*6082C>T)
c.10325C>T (p.Ala3442Val)
c.10397C>T (p.Ala3466Val)
c.10322C>T (p.Ala3441Val)
c.10022C>T (p.Ala3341Val)
c.7286C>T (p.Ala2429Val)
c.6179C>T (p.Ala2060Val)
c.10205C>T (p.Ala3402Val)
c.5957C>T (p.Ala1986Val)
c.9185C>T (p.Ala3062Val)
 ClinVar
8g.99853715T>ACA462458203VPS13Bc.10401T>A (p.Ala3467=)
n.10471T>A
c.*6083T>A (n.*6083T>A)
c.10326T>A (p.Ala3442=)
c.10398T>A (p.Ala3466=)
c.10323T>A (p.Ala3441=)
c.10023T>A (p.Ala3341=)
c.7287T>A (p.Ala2429=)
c.6180T>A (p.Ala2060=)
c.10206T>A (p.Ala3402=)
c.5958T>A (p.Ala1986=)
c.9186T>A (p.Ala3062=)
 gnomAD v4
8g.99853715T>CCA462458205VPS13Bc.10401T>C (p.Ala3467=)
n.10471T>C
c.*6083T>C (n.*6083T>C)
c.10326T>C (p.Ala3442=)
c.10398T>C (p.Ala3466=)
c.10323T>C (p.Ala3441=)
c.10023T>C (p.Ala3341=)
c.7287T>C (p.Ala2429=)
c.6180T>C (p.Ala2060=)
c.10206T>C (p.Ala3402=)
c.5958T>C (p.Ala1986=)
c.9186T>C (p.Ala3062=)
8g.99853715T>GCA462458206VPS13Bc.10401T>G (p.Ala3467=)
n.10471T>G
c.*6083T>G (n.*6083T>G)
c.10326T>G (p.Ala3442=)
c.10398T>G (p.Ala3466=)
c.10323T>G (p.Ala3441=)
c.10023T>G (p.Ala3341=)
c.7287T>G (p.Ala2429=)
c.6180T>G (p.Ala2060=)
c.10206T>G (p.Ala3402=)
c.5958T>G (p.Ala1986=)
c.9186T>G (p.Ala3062=)
 ClinVar dbSNP gnomAD v4
8g.99853716delCA1139660676VPS13Bc.10402del (p.Val3468SerfsTer2)
n.10472del
c.*6084del (n.*6084del)
c.10327del (p.Val3443SerfsTer2)
c.10399del (p.Val3467SerfsTer2)
c.10324del (p.Val3442SerfsTer2)
c.10024del (p.Val3342SerfsTer2)
c.7288del (p.Val2430SerfsTer2)
c.6181del (p.Val2061SerfsTer2)
c.10207del (p.Val3403SerfsTer2)
c.5959del (p.Val1987SerfsTer2)
c.9187del (p.Val3063SerfsTer2)
 ClinVar dbSNP
8g.99853716G>ACA371781584VPS13Bc.10402G>A (p.Val3468Ile)
n.10472G>A
c.*6084G>A (n.*6084G>A)
c.10327G>A (p.Val3443Ile)
c.10399G>A (p.Val3467Ile)
c.10324G>A (p.Val3442Ile)
c.10024G>A (p.Val3342Ile)
c.7288G>A (p.Val2430Ile)
c.6181G>A (p.Val2061Ile)
c.10207G>A (p.Val3403Ile)
c.5959G>A (p.Val1987Ile)
c.9187G>A (p.Val3063Ile)
8g.99853716G>CCA4824933VPS13Bc.10402G>C (p.Val3468Leu)
n.10472G>C
c.*6084G>C (n.*6084G>C)
c.10327G>C (p.Val3443Leu)
c.10399G>C (p.Val3467Leu)
c.10324G>C (p.Val3442Leu)
c.10024G>C (p.Val3342Leu)
c.7288G>C (p.Val2430Leu)
c.6181G>C (p.Val2061Leu)
c.10207G>C (p.Val3403Leu)
c.5959G>C (p.Val1987Leu)
c.9187G>C (p.Val3063Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853716G>TCA371781585VPS13Bc.10402G>T (p.Val3468Phe)
n.10472G>T
c.*6084G>T (n.*6084G>T)
c.10327G>T (p.Val3443Phe)
c.10399G>T (p.Val3467Phe)
c.10324G>T (p.Val3442Phe)
c.10024G>T (p.Val3342Phe)
c.7288G>T (p.Val2430Phe)
c.6181G>T (p.Val2061Phe)
c.10207G>T (p.Val3403Phe)
c.5959G>T (p.Val1987Phe)
c.9187G>T (p.Val3063Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.99853717T>ACA371781587VPS13Bc.10403T>A (p.Val3468Asp)
n.10473T>A
c.*6085T>A (n.*6085T>A)
c.10328T>A (p.Val3443Asp)
c.10400T>A (p.Val3467Asp)
c.10325T>A (p.Val3442Asp)
c.10025T>A (p.Val3342Asp)
c.7289T>A (p.Val2430Asp)
c.6182T>A (p.Val2061Asp)
c.10208T>A (p.Val3403Asp)
c.5960T>A (p.Val1987Asp)
c.9188T>A (p.Val3063Asp)
8g.99853717T>CCA371781589VPS13Bc.10403T>C (p.Val3468Ala)
n.10473T>C
c.*6085T>C (n.*6085T>C)
c.10328T>C (p.Val3443Ala)
c.10400T>C (p.Val3467Ala)
c.10325T>C (p.Val3442Ala)
c.10025T>C (p.Val3342Ala)
c.7289T>C (p.Val2430Ala)
c.6182T>C (p.Val2061Ala)
c.10208T>C (p.Val3403Ala)
c.5960T>C (p.Val1987Ala)
c.9188T>C (p.Val3063Ala)
8g.99853717T>GCA371781591VPS13Bc.10403T>G (p.Val3468Gly)
n.10473T>G
c.*6085T>G (n.*6085T>G)
c.10328T>G (p.Val3443Gly)
c.10400T>G (p.Val3467Gly)
c.10325T>G (p.Val3442Gly)
c.10025T>G (p.Val3342Gly)
c.7289T>G (p.Val2430Gly)
c.6182T>G (p.Val2061Gly)
c.10208T>G (p.Val3403Gly)
c.5960T>G (p.Val1987Gly)
c.9188T>G (p.Val3063Gly)
8g.99853718C>ACA462458207VPS13Bc.10404C>A (p.Val3468=)
n.10474C>A
c.*6086C>A (n.*6086C>A)
c.10329C>A (p.Val3443=)
c.10401C>A (p.Val3467=)
c.10326C>A (p.Val3442=)
c.10026C>A (p.Val3342=)
c.7290C>A (p.Val2430=)
c.6183C>A (p.Val2061=)
c.10209C>A (p.Val3403=)
c.5961C>A (p.Val1987=)
c.9189C>A (p.Val3063=)
8g.99853718C>GCA462458208VPS13Bc.10404C>G (p.Val3468=)
n.10474C>G
c.*6086C>G (n.*6086C>G)
c.10329C>G (p.Val3443=)
c.10401C>G (p.Val3467=)
c.10326C>G (p.Val3442=)
c.10026C>G (p.Val3342=)
c.7290C>G (p.Val2430=)
c.6183C>G (p.Val2061=)
c.10209C>G (p.Val3403=)
c.5961C>G (p.Val1987=)
c.9189C>G (p.Val3063=)
8g.99853718C>TCA462458209VPS13Bc.10404C>T (p.Val3468=)
n.10474C>T
c.*6086C>T (n.*6086C>T)
c.10329C>T (p.Val3443=)
c.10401C>T (p.Val3467=)
c.10326C>T (p.Val3442=)
c.10026C>T (p.Val3342=)
c.7290C>T (p.Val2430=)
c.6183C>T (p.Val2061=)
c.10209C>T (p.Val3403=)
c.5961C>T (p.Val1987=)
c.9189C>T (p.Val3063=)
8g.99853719T>ACA371781593VPS13Bc.10405T>A (p.Leu3469Ile)
n.10475T>A
c.*6087T>A (n.*6087T>A)
c.10330T>A (p.Leu3444Ile)
c.10402T>A (p.Leu3468Ile)
c.10327T>A (p.Leu3443Ile)
c.10027T>A (p.Leu3343Ile)
c.7291T>A (p.Leu2431Ile)
c.6184T>A (p.Leu2062Ile)
c.10210T>A (p.Leu3404Ile)
c.5962T>A (p.Leu1988Ile)
c.9190T>A (p.Leu3064Ile)
8g.99853719T>CCA462458210VPS13Bc.10405T>C (p.Leu3469=)
n.10475T>C
c.*6087T>C (n.*6087T>C)
c.10330T>C (p.Leu3444=)
c.10402T>C (p.Leu3468=)
c.10327T>C (p.Leu3443=)
c.10027T>C (p.Leu3343=)
c.7291T>C (p.Leu2431=)
c.6184T>C (p.Leu2062=)
c.10210T>C (p.Leu3404=)
c.5962T>C (p.Leu1988=)
c.9190T>C (p.Leu3064=)
8g.99853719T>GCA371781595VPS13Bc.10405T>G (p.Leu3469Val)
n.10475T>G
c.*6087T>G (n.*6087T>G)
c.10330T>G (p.Leu3444Val)
c.10402T>G (p.Leu3468Val)
c.10327T>G (p.Leu3443Val)
c.10027T>G (p.Leu3343Val)
c.7291T>G (p.Leu2431Val)
c.6184T>G (p.Leu2062Val)
c.10210T>G (p.Leu3404Val)
c.5962T>G (p.Leu1988Val)
c.9190T>G (p.Leu3064Val)
8g.99853720T>ACA371781597VPS13Bc.10406T>A (p.Leu3469Ter)
n.10476T>A
c.*6088T>A (n.*6088T>A)
c.10331T>A (p.Leu3444Ter)
c.10403T>A (p.Leu3468Ter)
c.10328T>A (p.Leu3443Ter)
c.10028T>A (p.Leu3343Ter)
c.7292T>A (p.Leu2431Ter)
c.6185T>A (p.Leu2062Ter)
c.10211T>A (p.Leu3404Ter)
c.5963T>A (p.Leu1988Ter)
c.9191T>A (p.Leu3064Ter)
8g.99853720T>CCA371781599VPS13Bc.10406T>C (p.Leu3469Ser)
n.10476T>C
c.*6088T>C (n.*6088T>C)
c.10331T>C (p.Leu3444Ser)
c.10403T>C (p.Leu3468Ser)
c.10328T>C (p.Leu3443Ser)
c.10028T>C (p.Leu3343Ser)
c.7292T>C (p.Leu2431Ser)
c.6185T>C (p.Leu2062Ser)
c.10211T>C (p.Leu3404Ser)
c.5963T>C (p.Leu1988Ser)
c.9191T>C (p.Leu3064Ser)
8g.99853720T>GCA371781601VPS13Bc.10406T>G (p.Leu3469Ter)
n.10476T>G
c.*6088T>G (n.*6088T>G)
c.10331T>G (p.Leu3444Ter)
c.10403T>G (p.Leu3468Ter)
c.10328T>G (p.Leu3443Ter)
c.10028T>G (p.Leu3343Ter)
c.7292T>G (p.Leu2431Ter)
c.6185T>G (p.Leu2062Ter)
c.10211T>G (p.Leu3404Ter)
c.5963T>G (p.Leu1988Ter)
c.9191T>G (p.Leu3064Ter)
8g.99853721A>CCA371781604VPS13Bc.10407A>C (p.Leu3469Phe)
n.10477A>C
c.*6089A>C (n.*6089A>C)
c.10332A>C (p.Leu3444Phe)
c.10404A>C (p.Leu3468Phe)
c.10329A>C (p.Leu3443Phe)
c.10029A>C (p.Leu3343Phe)
c.7293A>C (p.Leu2431Phe)
c.6186A>C (p.Leu2062Phe)
c.10212A>C (p.Leu3404Phe)
c.5964A>C (p.Leu1988Phe)
c.9192A>C (p.Leu3064Phe)
8g.99853721A>GCA462458212VPS13Bc.10407A>G (p.Leu3469=)
n.10477A>G
c.*6089A>G (n.*6089A>G)
c.10332A>G (p.Leu3444=)
c.10404A>G (p.Leu3468=)
c.10329A>G (p.Leu3443=)
c.10029A>G (p.Leu3343=)
c.7293A>G (p.Leu2431=)
c.6186A>G (p.Leu2062=)
c.10212A>G (p.Leu3404=)
c.5964A>G (p.Leu1988=)
c.9192A>G (p.Leu3064=)
8g.99853721A>TCA371781606VPS13Bc.10407A>T (p.Leu3469Phe)
n.10477A>T
c.*6089A>T (n.*6089A>T)
c.10332A>T (p.Leu3444Phe)
c.10404A>T (p.Leu3468Phe)
c.10329A>T (p.Leu3443Phe)
c.10029A>T (p.Leu3343Phe)
c.7293A>T (p.Leu2431Phe)
c.6186A>T (p.Leu2062Phe)
c.10212A>T (p.Leu3404Phe)
c.5964A>T (p.Leu1988Phe)
c.9192A>T (p.Leu3064Phe)
8g.99853722G>ACA371781614VPS13Bc.10408G>A (p.Val3470Ile)
n.10478G>A
c.*6090G>A (n.*6090G>A)
c.10333G>A (p.Val3445Ile)
c.10405G>A (p.Val3469Ile)
c.10330G>A (p.Val3444Ile)
c.10030G>A (p.Val3344Ile)
c.7294G>A (p.Val2432Ile)
c.6187G>A (p.Val2063Ile)
c.10213G>A (p.Val3405Ile)
c.5965G>A (p.Val1989Ile)
c.9193G>A (p.Val3065Ile)
 gnomAD v4
8g.99853722G>CCA371781618VPS13Bc.10408G>C (p.Val3470Leu)
n.10478G>C
c.*6090G>C (n.*6090G>C)
c.10333G>C (p.Val3445Leu)
c.10405G>C (p.Val3469Leu)
c.10330G>C (p.Val3444Leu)
c.10030G>C (p.Val3344Leu)
c.7294G>C (p.Val2432Leu)
c.6187G>C (p.Val2063Leu)
c.10213G>C (p.Val3405Leu)
c.5965G>C (p.Val1989Leu)
c.9193G>C (p.Val3065Leu)
8g.99853722G>TCA371781616VPS13Bc.10408G>T (p.Val3470Phe)
n.10478G>T
c.*6090G>T (n.*6090G>T)
c.10333G>T (p.Val3445Phe)
c.10405G>T (p.Val3469Phe)
c.10330G>T (p.Val3444Phe)
c.10030G>T (p.Val3344Phe)
c.7294G>T (p.Val2432Phe)
c.6187G>T (p.Val2063Phe)
c.10213G>T (p.Val3405Phe)
c.5965G>T (p.Val1989Phe)
c.9193G>T (p.Val3065Phe)
8g.99853723delCA2825001601VPS13Bc.10409del (p.Val3470AlafsTer?)
n.10479del
c.*6091del (n.*6091del)
c.10334del (p.Val3445AlafsTer?)
c.10406del (p.Val3469AlafsTer?)
c.10331del (p.Val3444AlafsTer?)
c.10031del (p.Val3344AlafsTer?)
c.7295del (p.Val2432AlafsTer?)
c.6188del (p.Val2063AlafsTer?)
c.10214del (p.Val3405AlafsTer?)
c.5966del (p.Val1989AlafsTer?)
c.9194del (p.Val3065AlafsTer?)
 ClinVar
8g.99853723T>ACA371781620VPS13Bc.10409T>A (p.Val3470Asp)
n.10479T>A
c.*6091T>A (n.*6091T>A)
c.10334T>A (p.Val3445Asp)
c.10406T>A (p.Val3469Asp)
c.10331T>A (p.Val3444Asp)
c.10031T>A (p.Val3344Asp)
c.7295T>A (p.Val2432Asp)
c.6188T>A (p.Val2063Asp)
c.10214T>A (p.Val3405Asp)
c.5966T>A (p.Val1989Asp)
c.9194T>A (p.Val3065Asp)
8g.99853723T>CCA371781621VPS13Bc.10409T>C (p.Val3470Ala)
n.10479T>C
c.*6091T>C (n.*6091T>C)
c.10334T>C (p.Val3445Ala)
c.10406T>C (p.Val3469Ala)
c.10331T>C (p.Val3444Ala)
c.10031T>C (p.Val3344Ala)
c.7295T>C (p.Val2432Ala)
c.6188T>C (p.Val2063Ala)
c.10214T>C (p.Val3405Ala)
c.5966T>C (p.Val1989Ala)
c.9194T>C (p.Val3065Ala)
8g.99853723T>GCA371781622VPS13Bc.10409T>G (p.Val3470Gly)
n.10479T>G
c.*6091T>G (n.*6091T>G)
c.10334T>G (p.Val3445Gly)
c.10406T>G (p.Val3469Gly)
c.10331T>G (p.Val3444Gly)
c.10031T>G (p.Val3344Gly)
c.7295T>G (p.Val2432Gly)
c.6188T>G (p.Val2063Gly)
c.10214T>G (p.Val3405Gly)
c.5966T>G (p.Val1989Gly)
c.9194T>G (p.Val3065Gly)
8g.99853724C>ACA462458214VPS13Bc.10410C>A (p.Val3470=)
n.10480C>A
c.*6092C>A (n.*6092C>A)
c.10335C>A (p.Val3445=)
c.10407C>A (p.Val3469=)
c.10332C>A (p.Val3444=)
c.10032C>A (p.Val3344=)
c.7296C>A (p.Val2432=)
c.6189C>A (p.Val2063=)
c.10215C>A (p.Val3405=)
c.5967C>A (p.Val1989=)
c.9195C>A (p.Val3065=)
8g.99853724C>GCA462458215VPS13Bc.10410C>G (p.Val3470=)
n.10480C>G
c.*6092C>G (n.*6092C>G)
c.10335C>G (p.Val3445=)
c.10407C>G (p.Val3469=)
c.10332C>G (p.Val3444=)
c.10032C>G (p.Val3344=)
c.7296C>G (p.Val2432=)
c.6189C>G (p.Val2063=)
c.10215C>G (p.Val3405=)
c.5967C>G (p.Val1989=)
c.9195C>G (p.Val3065=)
8g.99853724C>TCA182314291VPS13Bc.10410C>T (p.Val3470=)
n.10480C>T
c.*6092C>T (n.*6092C>T)
c.10335C>T (p.Val3445=)
c.10407C>T (p.Val3469=)
c.10332C>T (p.Val3444=)
c.10032C>T (p.Val3344=)
c.7296C>T (p.Val2432=)
c.6189C>T (p.Val2063=)
c.10215C>T (p.Val3405=)
c.5967C>T (p.Val1989=)
c.9195C>T (p.Val3065=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853725T>ACA371781625VPS13Bc.10411T>A (p.Cys3471Ser)
n.10481T>A
c.*6093T>A (n.*6093T>A)
c.10336T>A (p.Cys3446Ser)
c.10408T>A (p.Cys3470Ser)
c.10333T>A (p.Cys3445Ser)
c.10033T>A (p.Cys3345Ser)
c.7297T>A (p.Cys2433Ser)
c.6190T>A (p.Cys2064Ser)
c.10216T>A (p.Cys3406Ser)
c.5968T>A (p.Cys1990Ser)
c.9196T>A (p.Cys3066Ser)
8g.99853725T>CCA371781626VPS13Bc.10411T>C (p.Cys3471Arg)
n.10481T>C
c.*6093T>C (n.*6093T>C)
c.10336T>C (p.Cys3446Arg)
c.10408T>C (p.Cys3470Arg)
c.10333T>C (p.Cys3445Arg)
c.10033T>C (p.Cys3345Arg)
c.7297T>C (p.Cys2433Arg)
c.6190T>C (p.Cys2064Arg)
c.10216T>C (p.Cys3406Arg)
c.5968T>C (p.Cys1990Arg)
c.9196T>C (p.Cys3066Arg)
8g.99853725T>GCA371781627VPS13Bc.10411T>G (p.Cys3471Gly)
n.10481T>G
c.*6093T>G (n.*6093T>G)
c.10336T>G (p.Cys3446Gly)
c.10408T>G (p.Cys3470Gly)
c.10333T>G (p.Cys3445Gly)
c.10033T>G (p.Cys3345Gly)
c.7297T>G (p.Cys2433Gly)
c.6190T>G (p.Cys2064Gly)
c.10216T>G (p.Cys3406Gly)
c.5968T>G (p.Cys1990Gly)
c.9196T>G (p.Cys3066Gly)
8g.99853726G>ACA371781629VPS13Bc.10412G>A (p.Cys3471Tyr)
n.10482G>A
c.*6094G>A (n.*6094G>A)
c.10337G>A (p.Cys3446Tyr)
c.10409G>A (p.Cys3470Tyr)
c.10334G>A (p.Cys3445Tyr)
c.10034G>A (p.Cys3345Tyr)
c.7298G>A (p.Cys2433Tyr)
c.6191G>A (p.Cys2064Tyr)
c.10217G>A (p.Cys3406Tyr)
c.5969G>A (p.Cys1990Tyr)
c.9197G>A (p.Cys3066Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.99853726G>CCA371781631VPS13Bc.10412G>C (p.Cys3471Ser)
n.10482G>C
c.*6094G>C (n.*6094G>C)
c.10337G>C (p.Cys3446Ser)
c.10409G>C (p.Cys3470Ser)
c.10334G>C (p.Cys3445Ser)
c.10034G>C (p.Cys3345Ser)
c.7298G>C (p.Cys2433Ser)
c.6191G>C (p.Cys2064Ser)
c.10217G>C (p.Cys3406Ser)
c.5969G>C (p.Cys1990Ser)
c.9197G>C (p.Cys3066Ser)
8g.99853726G>TCA371781633VPS13Bc.10412G>T (p.Cys3471Phe)
n.10482G>T
c.*6094G>T (n.*6094G>T)
c.10337G>T (p.Cys3446Phe)
c.10409G>T (p.Cys3470Phe)
c.10334G>T (p.Cys3445Phe)
c.10034G>T (p.Cys3345Phe)
c.7298G>T (p.Cys2433Phe)
c.6191G>T (p.Cys2064Phe)
c.10217G>T (p.Cys3406Phe)
c.5969G>T (p.Cys1990Phe)
c.9197G>T (p.Cys3066Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99853727C>ACA371781636VPS13Bc.10413C>A (p.Cys3471Ter)
n.10483C>A
c.*6095C>A (n.*6095C>A)
c.10338C>A (p.Cys3446Ter)
c.10410C>A (p.Cys3470Ter)
c.10335C>A (p.Cys3445Ter)
c.10035C>A (p.Cys3345Ter)
c.7299C>A (p.Cys2433Ter)
c.6192C>A (p.Cys2064Ter)
c.10218C>A (p.Cys3406Ter)
c.5970C>A (p.Cys1990Ter)
c.9198C>A (p.Cys3066Ter)
8g.99853727C>GCA371781635VPS13Bc.10413C>G (p.Cys3471Trp)
n.10483C>G
c.*6095C>G (n.*6095C>G)
c.10338C>G (p.Cys3446Trp)
c.10410C>G (p.Cys3470Trp)
c.10335C>G (p.Cys3445Trp)
c.10035C>G (p.Cys3345Trp)
c.7299C>G (p.Cys2433Trp)
c.6192C>G (p.Cys2064Trp)
c.10218C>G (p.Cys3406Trp)
c.5970C>G (p.Cys1990Trp)
c.9198C>G (p.Cys3066Trp)
8g.99853727C>TCA462458217VPS13Bc.10413C>T (p.Cys3471=)
n.10483C>T
c.*6095C>T (n.*6095C>T)
c.10338C>T (p.Cys3446=)
c.10410C>T (p.Cys3470=)
c.10335C>T (p.Cys3445=)
c.10035C>T (p.Cys3345=)
c.7299C>T (p.Cys2433=)
c.6192C>T (p.Cys2064=)
c.10218C>T (p.Cys3406=)
c.5970C>T (p.Cys1990=)
c.9198C>T (p.Cys3066=)
8g.99853728C>ACA371781638VPS13Bc.10414C>A (p.Gln3472Lys)
n.10484C>A
c.*6096C>A (n.*6096C>A)
c.10339C>A (p.Gln3447Lys)
c.10411C>A (p.Gln3471Lys)
c.10336C>A (p.Gln3446Lys)
c.10036C>A (p.Gln3346Lys)
c.7300C>A (p.Gln2434Lys)
c.6193C>A (p.Gln2065Lys)
c.10219C>A (p.Gln3407Lys)
c.5971C>A (p.Gln1991Lys)
c.9199C>A (p.Gln3067Lys)
8g.99853728C>GCA371781641VPS13Bc.10414C>G (p.Gln3472Glu)
n.10484C>G
c.*6096C>G (n.*6096C>G)
c.10339C>G (p.Gln3447Glu)
c.10411C>G (p.Gln3471Glu)
c.10336C>G (p.Gln3446Glu)
c.10036C>G (p.Gln3346Glu)
c.7300C>G (p.Gln2434Glu)
c.6193C>G (p.Gln2065Glu)
c.10219C>G (p.Gln3407Glu)
c.5971C>G (p.Gln1991Glu)
c.9199C>G (p.Gln3067Glu)
 gnomAD v4
8g.99853728C>TCA371781640VPS13Bc.10414C>T (p.Gln3472Ter)
n.10484C>T
c.*6096C>T (n.*6096C>T)
c.10339C>T (p.Gln3447Ter)
c.10411C>T (p.Gln3471Ter)
c.10336C>T (p.Gln3446Ter)
c.10036C>T (p.Gln3346Ter)
c.7300C>T (p.Gln2434Ter)
c.6193C>T (p.Gln2065Ter)
c.10219C>T (p.Gln3407Ter)
c.5971C>T (p.Gln1991Ter)
c.9199C>T (p.Gln3067Ter)
8g.99853729A>CCA371781642VPS13Bc.10415A>C (p.Gln3472Pro)
n.10485A>C
c.*6097A>C (n.*6097A>C)
c.10340A>C (p.Gln3447Pro)
c.10412A>C (p.Gln3471Pro)
c.10337A>C (p.Gln3446Pro)
c.10037A>C (p.Gln3346Pro)
c.7301A>C (p.Gln2434Pro)
c.6194A>C (p.Gln2065Pro)
c.10220A>C (p.Gln3407Pro)
c.5972A>C (p.Gln1991Pro)
c.9200A>C (p.Gln3067Pro)
8g.99853729A>GCA371781643VPS13Bc.10415A>G (p.Gln3472Arg)
n.10485A>G
c.*6097A>G (n.*6097A>G)
c.10340A>G (p.Gln3447Arg)
c.10412A>G (p.Gln3471Arg)
c.10337A>G (p.Gln3446Arg)
c.10037A>G (p.Gln3346Arg)
c.7301A>G (p.Gln2434Arg)
c.6194A>G (p.Gln2065Arg)
c.10220A>G (p.Gln3407Arg)
c.5972A>G (p.Gln1991Arg)
c.9200A>G (p.Gln3067Arg)
 gnomAD v4
8g.99853729A>TCA371781645VPS13Bc.10415A>T (p.Gln3472Leu)
n.10485A>T
c.*6097A>T (n.*6097A>T)
c.10340A>T (p.Gln3447Leu)
c.10412A>T (p.Gln3471Leu)
c.10337A>T (p.Gln3446Leu)
c.10037A>T (p.Gln3346Leu)
c.7301A>T (p.Gln2434Leu)
c.6194A>T (p.Gln2065Leu)
c.10220A>T (p.Gln3407Leu)
c.5972A>T (p.Gln1991Leu)
c.9200A>T (p.Gln3067Leu)
 gnomAD v4
8g.99853730G>ACA462458218VPS13Bc.10416G>A (p.Gln3472=)
n.10486G>A
c.*6098G>A (n.*6098G>A)
c.10341G>A (p.Gln3447=)
c.10413G>A (p.Gln3471=)
c.10338G>A (p.Gln3446=)
c.10038G>A (p.Gln3346=)
c.7302G>A (p.Gln2434=)
c.6195G>A (p.Gln2065=)
c.10221G>A (p.Gln3407=)
c.5973G>A (p.Gln1991=)
c.9201G>A (p.Gln3067=)
8g.99853730G>CCA371781647VPS13Bc.10416G>C (p.Gln3472His)
n.10486G>C
c.*6098G>C (n.*6098G>C)
c.10341G>C (p.Gln3447His)
c.10413G>C (p.Gln3471His)
c.10338G>C (p.Gln3446His)
c.10038G>C (p.Gln3346His)
c.7302G>C (p.Gln2434His)
c.6195G>C (p.Gln2065His)
c.10221G>C (p.Gln3407His)
c.5973G>C (p.Gln1991His)
c.9201G>C (p.Gln3067His)
8g.99853730G>TCA371781649VPS13Bc.10416G>T (p.Gln3472His)
n.10486G>T
c.*6098G>T (n.*6098G>T)
c.10341G>T (p.Gln3447His)
c.10413G>T (p.Gln3471His)
c.10338G>T (p.Gln3446His)
c.10038G>T (p.Gln3346His)
c.7302G>T (p.Gln2434His)
c.6195G>T (p.Gln2065His)
c.10221G>T (p.Gln3407His)
c.5973G>T (p.Gln1991His)
c.9201G>T (p.Gln3067His)
8g.99853731G>ACA371781652VPS13Bc.10417G>A (p.Gly3473Arg)
n.10487G>A
c.*6099G>A (n.*6099G>A)
c.10342G>A (p.Gly3448Arg)
c.10414G>A (p.Gly3472Arg)
c.10339G>A (p.Gly3447Arg)
c.10039G>A (p.Gly3347Arg)
c.7303G>A (p.Gly2435Arg)
c.6196G>A (p.Gly2066Arg)
c.10222G>A (p.Gly3408Arg)
c.5974G>A (p.Gly1992Arg)
c.9202G>A (p.Gly3068Arg)
8g.99853731G>CCA371781654VPS13Bc.10417G>C (p.Gly3473Arg)
n.10487G>C
c.*6099G>C (n.*6099G>C)
c.10342G>C (p.Gly3448Arg)
c.10414G>C (p.Gly3472Arg)
c.10339G>C (p.Gly3447Arg)
c.10039G>C (p.Gly3347Arg)
c.7303G>C (p.Gly2435Arg)
c.6196G>C (p.Gly2066Arg)
c.10222G>C (p.Gly3408Arg)
c.5974G>C (p.Gly1992Arg)
c.9202G>C (p.Gly3068Arg)
8g.99853731G>TCA371781656VPS13Bc.10417G>T (p.Gly3473Ter)
n.10487G>T
c.*6099G>T (n.*6099G>T)
c.10342G>T (p.Gly3448Ter)
c.10414G>T (p.Gly3472Ter)
c.10339G>T (p.Gly3447Ter)
c.10039G>T (p.Gly3347Ter)
c.7303G>T (p.Gly2435Ter)
c.6196G>T (p.Gly2066Ter)
c.10222G>T (p.Gly3408Ter)
c.5974G>T (p.Gly1992Ter)
c.9202G>T (p.Gly3068Ter)
8g.99853732G>ACA371781659VPS13Bc.10418G>A (p.Gly3473Glu)
n.10488G>A
c.*6100G>A (n.*6100G>A)
c.10343G>A (p.Gly3448Glu)
c.10415G>A (p.Gly3472Glu)
c.10340G>A (p.Gly3447Glu)
c.10040G>A (p.Gly3347Glu)
c.7304G>A (p.Gly2435Glu)
c.6197G>A (p.Gly2066Glu)
c.10223G>A (p.Gly3408Glu)
c.5975G>A (p.Gly1992Glu)
c.9203G>A (p.Gly3068Glu)
 gnomAD v4
8g.99853732G>CCA371781662VPS13Bc.10418G>C (p.Gly3473Ala)
n.10488G>C
c.*6100G>C (n.*6100G>C)
c.10343G>C (p.Gly3448Ala)
c.10415G>C (p.Gly3472Ala)
c.10340G>C (p.Gly3447Ala)
c.10040G>C (p.Gly3347Ala)
c.7304G>C (p.Gly2435Ala)
c.6197G>C (p.Gly2066Ala)
c.10223G>C (p.Gly3408Ala)
c.5975G>C (p.Gly1992Ala)
c.9203G>C (p.Gly3068Ala)
8g.99853732G>TCA371781663VPS13Bc.10418G>T (p.Gly3473Val)
n.10488G>T
c.*6100G>T (n.*6100G>T)
c.10343G>T (p.Gly3448Val)
c.10415G>T (p.Gly3472Val)
c.10340G>T (p.Gly3447Val)
c.10040G>T (p.Gly3347Val)
c.7304G>T (p.Gly2435Val)
c.6197G>T (p.Gly2066Val)
c.10223G>T (p.Gly3408Val)
c.5975G>T (p.Gly1992Val)
c.9203G>T (p.Gly3068Val)
8g.99853733A>CCA462458221VPS13Bc.10419A>C (p.Gly3473=)
n.10489A>C
c.*6101A>C (n.*6101A>C)
c.10344A>C (p.Gly3448=)
c.10416A>C (p.Gly3472=)
c.10341A>C (p.Gly3447=)
c.10041A>C (p.Gly3347=)
c.7305A>C (p.Gly2435=)
c.6198A>C (p.Gly2066=)
c.10224A>C (p.Gly3408=)
c.5976A>C (p.Gly1992=)
c.9204A>C (p.Gly3068=)
8g.99853733A>GCA462458222VPS13Bc.10419A>G (p.Gly3473=)
n.10489A>G
c.*6101A>G (n.*6101A>G)
c.10344A>G (p.Gly3448=)
c.10416A>G (p.Gly3472=)
c.10341A>G (p.Gly3447=)
c.10041A>G (p.Gly3347=)
c.7305A>G (p.Gly2435=)
c.6198A>G (p.Gly2066=)
c.10224A>G (p.Gly3408=)
c.5976A>G (p.Gly1992=)
c.9204A>G (p.Gly3068=)
 ClinVar
8g.99853733A>TCA462458223VPS13Bc.10419A>T (p.Gly3473=)
n.10489A>T
c.*6101A>T (n.*6101A>T)
c.10344A>T (p.Gly3448=)
c.10416A>T (p.Gly3472=)
c.10341A>T (p.Gly3447=)
c.10041A>T (p.Gly3347=)
c.7305A>T (p.Gly2435=)
c.6198A>T (p.Gly2066=)
c.10224A>T (p.Gly3408=)
c.5976A>T (p.Gly1992=)
c.9204A>T (p.Gly3068=)
8g.99853734G>ACA371781668VPS13Bc.10420G>A (p.Glu3474Lys)
n.10490G>A
c.*6102G>A (n.*6102G>A)
c.10345G>A (p.Glu3449Lys)
c.10417G>A (p.Glu3473Lys)
c.10342G>A (p.Glu3448Lys)
c.10042G>A (p.Glu3348Lys)
c.7306G>A (p.Glu2436Lys)
c.6199G>A (p.Glu2067Lys)
c.10225G>A (p.Glu3409Lys)
c.5977G>A (p.Glu1993Lys)
c.9205G>A (p.Glu3069Lys)
8g.99853734G>CCA371781667VPS13Bc.10420G>C (p.Glu3474Gln)
n.10490G>C
c.*6102G>C (n.*6102G>C)
c.10345G>C (p.Glu3449Gln)
c.10417G>C (p.Glu3473Gln)
c.10342G>C (p.Glu3448Gln)
c.10042G>C (p.Glu3348Gln)
c.7306G>C (p.Glu2436Gln)
c.6199G>C (p.Glu2067Gln)
c.10225G>C (p.Glu3409Gln)
c.5977G>C (p.Glu1993Gln)
c.9205G>C (p.Glu3069Gln)
8g.99853734G>TCA371781665VPS13Bc.10420G>T (p.Glu3474Ter)
n.10490G>T
c.*6102G>T (n.*6102G>T)
c.10345G>T (p.Glu3449Ter)
c.10417G>T (p.Glu3473Ter)
c.10342G>T (p.Glu3448Ter)
c.10042G>T (p.Glu3348Ter)
c.7306G>T (p.Glu2436Ter)
c.6199G>T (p.Glu2067Ter)
c.10225G>T (p.Glu3409Ter)
c.5977G>T (p.Glu1993Ter)
c.9205G>T (p.Glu3069Ter)
8g.99853735A>CCA371781670VPS13Bc.10421A>C (p.Glu3474Ala)
n.10491A>C
c.*6103A>C (n.*6103A>C)
c.10346A>C (p.Glu3449Ala)
c.10418A>C (p.Glu3473Ala)
c.10343A>C (p.Glu3448Ala)
c.10043A>C (p.Glu3348Ala)
c.7307A>C (p.Glu2436Ala)
c.6200A>C (p.Glu2067Ala)
c.10226A>C (p.Glu3409Ala)
c.5978A>C (p.Glu1993Ala)
c.9206A>C (p.Glu3069Ala)
8g.99853735A>GCA371781673VPS13Bc.10421A>G (p.Glu3474Gly)
n.10491A>G
c.*6103A>G (n.*6103A>G)
c.10346A>G (p.Glu3449Gly)
c.10418A>G (p.Glu3473Gly)
c.10343A>G (p.Glu3448Gly)
c.10043A>G (p.Glu3348Gly)
c.7307A>G (p.Glu2436Gly)
c.6200A>G (p.Glu2067Gly)
c.10226A>G (p.Glu3409Gly)
c.5978A>G (p.Glu1993Gly)
c.9206A>G (p.Glu3069Gly)
8g.99853735A>TCA371781676VPS13Bc.10421A>T (p.Glu3474Val)
n.10491A>T
c.*6103A>T (n.*6103A>T)
c.10346A>T (p.Glu3449Val)
c.10418A>T (p.Glu3473Val)
c.10343A>T (p.Glu3448Val)
c.10043A>T (p.Glu3348Val)
c.7307A>T (p.Glu2436Val)
c.6200A>T (p.Glu2067Val)
c.10226A>T (p.Glu3409Val)
c.5978A>T (p.Glu1993Val)
c.9206A>T (p.Glu3069Val)
8g.99853736A>CCA371781678VPS13Bc.10422A>C (p.Glu3474Asp)
n.10492A>C
c.*6104A>C (n.*6104A>C)
c.10347A>C (p.Glu3449Asp)
c.10419A>C (p.Glu3473Asp)
c.10344A>C (p.Glu3448Asp)
c.10044A>C (p.Glu3348Asp)
c.7308A>C (p.Glu2436Asp)
c.6201A>C (p.Glu2067Asp)
c.10227A>C (p.Glu3409Asp)
c.5979A>C (p.Glu1993Asp)
c.9207A>C (p.Glu3069Asp)
8g.99853736A>GCA462458225VPS13Bc.10422A>G (p.Glu3474=)
n.10492A>G
c.*6104A>G (n.*6104A>G)
c.10347A>G (p.Glu3449=)
c.10419A>G (p.Glu3473=)
c.10344A>G (p.Glu3448=)
c.10044A>G (p.Glu3348=)
c.7308A>G (p.Glu2436=)
c.6201A>G (p.Glu2067=)
c.10227A>G (p.Glu3409=)
c.5979A>G (p.Glu1993=)
c.9207A>G (p.Glu3069=)
 gnomAD v4
8g.99853736A>TCA371781679VPS13Bc.10422A>T (p.Glu3474Asp)
n.10492A>T
c.*6104A>T (n.*6104A>T)
c.10347A>T (p.Glu3449Asp)
c.10419A>T (p.Glu3473Asp)
c.10344A>T (p.Glu3448Asp)
c.10044A>T (p.Glu3348Asp)
c.7308A>T (p.Glu2436Asp)
c.6201A>T (p.Glu2067Asp)
c.10227A>T (p.Glu3409Asp)
c.5979A>T (p.Glu1993Asp)
c.9207A>T (p.Glu3069Asp)
8g.99853737A>CCA371781683VPS13Bc.10423A>C (p.Lys3475Gln)
n.10493A>C
c.*6105A>C (n.*6105A>C)
c.10348A>C (p.Lys3450Gln)
c.10420A>C (p.Lys3474Gln)
c.10345A>C (p.Lys3449Gln)
c.10045A>C (p.Lys3349Gln)
c.7309A>C (p.Lys2437Gln)
c.6202A>C (p.Lys2068Gln)
c.10228A>C (p.Lys3410Gln)
c.5980A>C (p.Lys1994Gln)
c.9208A>C (p.Lys3070Gln)
8g.99853737A>GCA371781684VPS13Bc.10423A>G (p.Lys3475Glu)
n.10493A>G
c.*6105A>G (n.*6105A>G)
c.10348A>G (p.Lys3450Glu)
c.10420A>G (p.Lys3474Glu)
c.10345A>G (p.Lys3449Glu)
c.10045A>G (p.Lys3349Glu)
c.7309A>G (p.Lys2437Glu)
c.6202A>G (p.Lys2068Glu)
c.10228A>G (p.Lys3410Glu)
c.5980A>G (p.Lys1994Glu)
c.9208A>G (p.Lys3070Glu)
8g.99853737A>TCA371781685VPS13Bc.10423A>T (p.Lys3475Ter)
n.10493A>T
c.*6105A>T (n.*6105A>T)
c.10348A>T (p.Lys3450Ter)
c.10420A>T (p.Lys3474Ter)
c.10345A>T (p.Lys3449Ter)
c.10045A>T (p.Lys3349Ter)
c.7309A>T (p.Lys2437Ter)
c.6202A>T (p.Lys2068Ter)
c.10228A>T (p.Lys3410Ter)
c.5980A>T (p.Lys1994Ter)
c.9208A>T (p.Lys3070Ter)
8g.99853738A>CCA371781686VPS13Bc.10424A>C (p.Lys3475Thr)
n.10494A>C
c.*6106A>C (n.*6106A>C)
c.10349A>C (p.Lys3450Thr)
c.10421A>C (p.Lys3474Thr)
c.10346A>C (p.Lys3449Thr)
c.10046A>C (p.Lys3349Thr)
c.7310A>C (p.Lys2437Thr)
c.6203A>C (p.Lys2068Thr)
c.10229A>C (p.Lys3410Thr)
c.5981A>C (p.Lys1994Thr)
c.9209A>C (p.Lys3070Thr)
8g.99853738A>GCA371781688VPS13Bc.10424A>G (p.Lys3475Arg)
n.10494A>G
c.*6106A>G (n.*6106A>G)
c.10349A>G (p.Lys3450Arg)
c.10421A>G (p.Lys3474Arg)
c.10346A>G (p.Lys3449Arg)
c.10046A>G (p.Lys3349Arg)
c.7310A>G (p.Lys2437Arg)
c.6203A>G (p.Lys2068Arg)
c.10229A>G (p.Lys3410Arg)
c.5981A>G (p.Lys1994Arg)
c.9209A>G (p.Lys3070Arg)
8g.99853738A>TCA371781690VPS13Bc.10424A>T (p.Lys3475Ile)
n.10494A>T
c.*6106A>T (n.*6106A>T)
c.10349A>T (p.Lys3450Ile)
c.10421A>T (p.Lys3474Ile)
c.10346A>T (p.Lys3449Ile)
c.10046A>T (p.Lys3349Ile)
c.7310A>T (p.Lys2437Ile)
c.6203A>T (p.Lys2068Ile)
c.10229A>T (p.Lys3410Ile)
c.5981A>T (p.Lys1994Ile)
c.9209A>T (p.Lys3070Ile)
8g.99853739_99853742delCA913128139VPS13Bc.10425_10428del (p.Ala3476AsnfsTer?)
n.10495_10498del
c.*6107_*6110del (n.*6107_*6110del)
c.10350_10353del (p.Ala3451AsnfsTer?)
c.10422_10425del (p.Ala3475AsnfsTer?)
c.10347_10350del (p.Ala3450AsnfsTer?)
c.10047_10050del (p.Ala3350AsnfsTer?)
c.7311_7314del (p.Ala2438AsnfsTer?)
c.6204_6207del (p.Ala2069AsnfsTer?)
c.10230_10233del (p.Ala3411AsnfsTer?)
c.5982_5985del (p.Ala1995AsnfsTer?)
c.9210_9213del (p.Ala3071AsnfsTer?)
8g.99853739A>CCA371781692VPS13Bc.10425A>C (p.Lys3475Asn)
n.10495A>C
c.*6107A>C (n.*6107A>C)
c.10350A>C (p.Lys3450Asn)
c.10422A>C (p.Lys3474Asn)
c.10347A>C (p.Lys3449Asn)
c.10047A>C (p.Lys3349Asn)
c.7311A>C (p.Lys2437Asn)
c.6204A>C (p.Lys2068Asn)
c.10230A>C (p.Lys3410Asn)
c.5982A>C (p.Lys1994Asn)
c.9210A>C (p.Lys3070Asn)
8g.99853739A>GCA462458229VPS13Bc.10425A>G (p.Lys3475=)
n.10495A>G
c.*6107A>G (n.*6107A>G)
c.10350A>G (p.Lys3450=)
c.10422A>G (p.Lys3474=)
c.10347A>G (p.Lys3449=)
c.10047A>G (p.Lys3349=)
c.7311A>G (p.Lys2437=)
c.6204A>G (p.Lys2068=)
c.10230A>G (p.Lys3410=)
c.5982A>G (p.Lys1994=)
c.9210A>G (p.Lys3070=)
8g.99853739A>TCA371781693VPS13Bc.10425A>T (p.Lys3475Asn)
n.10495A>T
c.*6107A>T (n.*6107A>T)
c.10350A>T (p.Lys3450Asn)
c.10422A>T (p.Lys3474Asn)
c.10347A>T (p.Lys3449Asn)
c.10047A>T (p.Lys3349Asn)
c.7311A>T (p.Lys2437Asn)
c.6204A>T (p.Lys2068Asn)
c.10230A>T (p.Lys3410Asn)
c.5982A>T (p.Lys1994Asn)
c.9210A>T (p.Lys3070Asn)
8g.99853741_99853743delCA658821911VPS13Bc.10427_10429del (p.Ala3476del)
n.10497_10499del
c.*6109_*6111del (n.*6109_*6111del)
c.10352_10354del (p.Ala3451del)
c.10424_10426del (p.Ala3475del)
c.10349_10351del (p.Ala3450del)
c.10049_10051del (p.Ala3350del)
c.7313_7315del (p.Ala2438del)
c.6206_6208del (p.Ala2069del)
c.10232_10234del (p.Ala3411del)
c.5984_5986del (p.Ala1995del)
c.9212_9214del (p.Ala3071del)
 ClinVar dbSNP
8g.99853740G>ACA371781701VPS13Bc.10426G>A (p.Ala3476Thr)
n.10496G>A
c.*6108G>A (n.*6108G>A)
c.10351G>A (p.Ala3451Thr)
c.10423G>A (p.Ala3475Thr)
c.10348G>A (p.Ala3450Thr)
c.10048G>A (p.Ala3350Thr)
c.7312G>A (p.Ala2438Thr)
c.6205G>A (p.Ala2069Thr)
c.10231G>A (p.Ala3411Thr)
c.5983G>A (p.Ala1995Thr)
c.9211G>A (p.Ala3071Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99853740G>CCA371781703VPS13Bc.10426G>C (p.Ala3476Pro)
n.10496G>C
c.*6108G>C (n.*6108G>C)
c.10351G>C (p.Ala3451Pro)
c.10423G>C (p.Ala3475Pro)
c.10348G>C (p.Ala3450Pro)
c.10048G>C (p.Ala3350Pro)
c.7312G>C (p.Ala2438Pro)
c.6205G>C (p.Ala2069Pro)
c.10231G>C (p.Ala3411Pro)
c.5983G>C (p.Ala1995Pro)
c.9211G>C (p.Ala3071Pro)
8g.99853740G>TCA371781694VPS13Bc.10426G>T (p.Ala3476Ser)
n.10496G>T
c.*6108G>T (n.*6108G>T)
c.10351G>T (p.Ala3451Ser)
c.10423G>T (p.Ala3475Ser)
c.10348G>T (p.Ala3450Ser)
c.10048G>T (p.Ala3350Ser)
c.7312G>T (p.Ala2438Ser)
c.6205G>T (p.Ala2069Ser)
c.10231G>T (p.Ala3411Ser)
c.5983G>T (p.Ala1995Ser)
c.9211G>T (p.Ala3071Ser)
8g.99853741C>ACA371781712VPS13Bc.10427C>A (p.Ala3476Glu)
n.10497C>A
c.*6109C>A (n.*6109C>A)
c.10352C>A (p.Ala3451Glu)
c.10424C>A (p.Ala3475Glu)
c.10349C>A (p.Ala3450Glu)
c.10049C>A (p.Ala3350Glu)
c.7313C>A (p.Ala2438Glu)
c.6206C>A (p.Ala2069Glu)
c.10232C>A (p.Ala3411Glu)
c.5984C>A (p.Ala1995Glu)
c.9212C>A (p.Ala3071Glu)
8g.99853741C>GCA371781707VPS13Bc.10427C>G (p.Ala3476Gly)
n.10497C>G
c.*6109C>G (n.*6109C>G)
c.10352C>G (p.Ala3451Gly)
c.10424C>G (p.Ala3475Gly)
c.10349C>G (p.Ala3450Gly)
c.10049C>G (p.Ala3350Gly)
c.7313C>G (p.Ala2438Gly)
c.6206C>G (p.Ala2069Gly)
c.10232C>G (p.Ala3411Gly)
c.5984C>G (p.Ala1995Gly)
c.9212C>G (p.Ala3071Gly)
8g.99853741C>TCA371781709VPS13Bc.10427C>T (p.Ala3476Val)
n.10497C>T
c.*6109C>T (n.*6109C>T)
c.10352C>T (p.Ala3451Val)
c.10424C>T (p.Ala3475Val)
c.10349C>T (p.Ala3450Val)
c.10049C>T (p.Ala3350Val)
c.7313C>T (p.Ala2438Val)
c.6206C>T (p.Ala2069Val)
c.10232C>T (p.Ala3411Val)
c.5984C>T (p.Ala1995Val)
c.9212C>T (p.Ala3071Val)
8g.99853742A>CCA462458231VPS13Bc.10428A>C (p.Ala3476=)
n.10498A>C
c.*6110A>C (n.*6110A>C)
c.10353A>C (p.Ala3451=)
c.10425A>C (p.Ala3475=)
c.10350A>C (p.Ala3450=)
c.10050A>C (p.Ala3350=)
c.7314A>C (p.Ala2438=)
c.6207A>C (p.Ala2069=)
c.10233A>C (p.Ala3411=)
c.5985A>C (p.Ala1995=)
c.9213A>C (p.Ala3071=)
8g.99853742A>GCA462458232VPS13Bc.10428A>G (p.Ala3476=)
n.10498A>G
c.*6110A>G (n.*6110A>G)
c.10353A>G (p.Ala3451=)
c.10425A>G (p.Ala3475=)
c.10350A>G (p.Ala3450=)
c.10050A>G (p.Ala3350=)
c.7314A>G (p.Ala2438=)
c.6207A>G (p.Ala2069=)
c.10233A>G (p.Ala3411=)
c.5985A>G (p.Ala1995=)
c.9213A>G (p.Ala3071=)
8g.99853742A>TCA462458233VPS13Bc.10428A>T (p.Ala3476=)
n.10498A>T
c.*6110A>T (n.*6110A>T)
c.10353A>T (p.Ala3451=)
c.10425A>T (p.Ala3475=)
c.10350A>T (p.Ala3450=)
c.10050A>T (p.Ala3350=)
c.7314A>T (p.Ala2438=)
c.6207A>T (p.Ala2069=)
c.10233A>T (p.Ala3411=)
c.5985A>T (p.Ala1995=)
c.9213A>T (p.Ala3071=)
8g.99853743G>ACA371781717VPS13Bc.10429G>A (p.Glu3477Lys)
n.10499G>A
c.*6111G>A (n.*6111G>A)
c.10354G>A (p.Glu3452Lys)
c.10426G>A (p.Glu3476Lys)
c.10351G>A (p.Glu3451Lys)
c.10051G>A (p.Glu3351Lys)
c.7315G>A (p.Glu2439Lys)
c.6208G>A (p.Glu2070Lys)
c.10234G>A (p.Glu3412Lys)
c.5986G>A (p.Glu1996Lys)
c.9214G>A (p.Glu3072Lys)
8g.99853743G>CCA371781718VPS13Bc.10429G>C (p.Glu3477Gln)
n.10499G>C
c.*6111G>C (n.*6111G>C)
c.10354G>C (p.Glu3452Gln)
c.10426G>C (p.Glu3476Gln)
c.10351G>C (p.Glu3451Gln)
c.10051G>C (p.Glu3351Gln)
c.7315G>C (p.Glu2439Gln)
c.6208G>C (p.Glu2070Gln)
c.10234G>C (p.Glu3412Gln)
c.5986G>C (p.Glu1996Gln)
c.9214G>C (p.Glu3072Gln)
8g.99853743G>TCA371781719VPS13Bc.10429G>T (p.Glu3477Ter)
n.10499G>T
c.*6111G>T (n.*6111G>T)
c.10354G>T (p.Glu3452Ter)
c.10426G>T (p.Glu3476Ter)
c.10351G>T (p.Glu3451Ter)
c.10051G>T (p.Glu3351Ter)
c.7315G>T (p.Glu2439Ter)
c.6208G>T (p.Glu2070Ter)
c.10234G>T (p.Glu3412Ter)
c.5986G>T (p.Glu1996Ter)
c.9214G>T (p.Glu3072Ter)
8g.99853743_99853748dupCA2688072207VPS13Bc.10429_10434dup (p.Pro3478_Ile3479insGluPro)
n.10499_10504dup
c.*6111_*6116dup (n.*6111_*6116dup)
c.10354_10359dup (p.Pro3453_Ile3454insGluPro)
c.10426_10431dup (p.Pro3477_Ile3478insGluPro)
c.10351_10356dup (p.Pro3452_Ile3453insGluPro)
c.10051_10056dup (p.Pro3352_Ile3353insGluPro)
c.7315_7320dup (p.Pro2440_Ile2441insGluPro)
c.6208_6213dup (p.Pro2071_Ile2072insGluPro)
c.10234_10239dup (p.Pro3413_Ile3414insGluPro)
c.5986_5991dup (p.Pro1997_Ile1998insGluPro)
c.9214_9219dup (p.Pro3073_Ile3074insGluPro)
 gnomAD v4
8g.99853744A>CCA371781720VPS13Bc.10430A>C (p.Glu3477Ala)
n.10500A>C
c.*6112A>C (n.*6112A>C)
c.10355A>C (p.Glu3452Ala)
c.10427A>C (p.Glu3476Ala)
c.10352A>C (p.Glu3451Ala)
c.10052A>C (p.Glu3351Ala)
c.7316A>C (p.Glu2439Ala)
c.6209A>C (p.Glu2070Ala)
c.10235A>C (p.Glu3412Ala)
c.5987A>C (p.Glu1996Ala)
c.9215A>C (p.Glu3072Ala)
8g.99853744A>GCA371781723VPS13Bc.10430A>G (p.Glu3477Gly)
n.10500A>G
c.*6112A>G (n.*6112A>G)
c.10355A>G (p.Glu3452Gly)
c.10427A>G (p.Glu3476Gly)
c.10352A>G (p.Glu3451Gly)
c.10052A>G (p.Glu3351Gly)
c.7316A>G (p.Glu2439Gly)
c.6209A>G (p.Glu2070Gly)
c.10235A>G (p.Glu3412Gly)
c.5987A>G (p.Glu1996Gly)
c.9215A>G (p.Glu3072Gly)
8g.99853744A>TCA4824934VPS13Bc.10430A>T (p.Glu3477Val)
n.10500A>T
c.*6112A>T (n.*6112A>T)
c.10355A>T (p.Glu3452Val)
c.10427A>T (p.Glu3476Val)
c.10352A>T (p.Glu3451Val)
c.10052A>T (p.Glu3351Val)
c.7316A>T (p.Glu2439Val)
c.6209A>T (p.Glu2070Val)
c.10235A>T (p.Glu3412Val)
c.5987A>T (p.Glu1996Val)
c.9215A>T (p.Glu3072Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853745A>CCA371781731VPS13Bc.10431A>C (p.Glu3477Asp)
n.10501A>C
c.*6113A>C (n.*6113A>C)
c.10356A>C (p.Glu3452Asp)
c.10428A>C (p.Glu3476Asp)
c.10353A>C (p.Glu3451Asp)
c.10053A>C (p.Glu3351Asp)
c.7317A>C (p.Glu2439Asp)
c.6210A>C (p.Glu2070Asp)
c.10236A>C (p.Glu3412Asp)
c.5988A>C (p.Glu1996Asp)
c.9216A>C (p.Glu3072Asp)
8g.99853745A>GCA462458236VPS13Bc.10431A>G (p.Glu3477=)
n.10501A>G
c.*6113A>G (n.*6113A>G)
c.10356A>G (p.Glu3452=)
c.10428A>G (p.Glu3476=)
c.10353A>G (p.Glu3451=)
c.10053A>G (p.Glu3351=)
c.7317A>G (p.Glu2439=)
c.6210A>G (p.Glu2070=)
c.10236A>G (p.Glu3412=)
c.5988A>G (p.Glu1996=)
c.9216A>G (p.Glu3072=)
 ClinVar dbSNP
8g.99853745A>TCA371781733VPS13Bc.10431A>T (p.Glu3477Asp)
n.10501A>T
c.*6113A>T (n.*6113A>T)
c.10356A>T (p.Glu3452Asp)
c.10428A>T (p.Glu3476Asp)
c.10353A>T (p.Glu3451Asp)
c.10053A>T (p.Glu3351Asp)
c.7317A>T (p.Glu2439Asp)
c.6210A>T (p.Glu2070Asp)
c.10236A>T (p.Glu3412Asp)
c.5988A>T (p.Glu1996Asp)
c.9216A>T (p.Glu3072Asp)
8g.99853746C>ACA371781736VPS13Bc.10432C>A (p.Pro3478Thr)
n.10502C>A
c.*6114C>A (n.*6114C>A)
c.10357C>A (p.Pro3453Thr)
c.10429C>A (p.Pro3477Thr)
c.10354C>A (p.Pro3452Thr)
c.10054C>A (p.Pro3352Thr)
c.7318C>A (p.Pro2440Thr)
c.6211C>A (p.Pro2071Thr)
c.10237C>A (p.Pro3413Thr)
c.5989C>A (p.Pro1997Thr)
c.9217C>A (p.Pro3073Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853746C>GCA371781738VPS13Bc.10432C>G (p.Pro3478Ala)
n.10502C>G
c.*6114C>G (n.*6114C>G)
c.10357C>G (p.Pro3453Ala)
c.10429C>G (p.Pro3477Ala)
c.10354C>G (p.Pro3452Ala)
c.10054C>G (p.Pro3352Ala)
c.7318C>G (p.Pro2440Ala)
c.6211C>G (p.Pro2071Ala)
c.10237C>G (p.Pro3413Ala)
c.5989C>G (p.Pro1997Ala)
c.9217C>G (p.Pro3073Ala)
8g.99853746C>TCA4824935VPS13Bc.10432C>T (p.Pro3478Ser)
n.10502C>T
c.*6114C>T (n.*6114C>T)
c.10357C>T (p.Pro3453Ser)
c.10429C>T (p.Pro3477Ser)
c.10354C>T (p.Pro3452Ser)
c.10054C>T (p.Pro3352Ser)
c.7318C>T (p.Pro2440Ser)
c.6211C>T (p.Pro2071Ser)
c.10237C>T (p.Pro3413Ser)
c.5989C>T (p.Pro1997Ser)
c.9217C>T (p.Pro3073Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853747C>ACA371781745VPS13Bc.10433C>A (p.Pro3478His)
n.10503C>A
c.*6115C>A (n.*6115C>A)
c.10358C>A (p.Pro3453His)
c.10430C>A (p.Pro3477His)
c.10355C>A (p.Pro3452His)
c.10055C>A (p.Pro3352His)
c.7319C>A (p.Pro2440His)
c.6212C>A (p.Pro2071His)
c.10238C>A (p.Pro3413His)
c.5990C>A (p.Pro1997His)
c.9218C>A (p.Pro3073His)
8g.99853747C>GCA371781747VPS13Bc.10433C>G (p.Pro3478Arg)
n.10503C>G
c.*6115C>G (n.*6115C>G)
c.10358C>G (p.Pro3453Arg)
c.10430C>G (p.Pro3477Arg)
c.10355C>G (p.Pro3452Arg)
c.10055C>G (p.Pro3352Arg)
c.7319C>G (p.Pro2440Arg)
c.6212C>G (p.Pro2071Arg)
c.10238C>G (p.Pro3413Arg)
c.5990C>G (p.Pro1997Arg)
c.9218C>G (p.Pro3073Arg)
 gnomAD v4
8g.99853747C>TCA371781748VPS13Bc.10433C>T (p.Pro3478Leu)
n.10503C>T
c.*6115C>T (n.*6115C>T)
c.10358C>T (p.Pro3453Leu)
c.10430C>T (p.Pro3477Leu)
c.10355C>T (p.Pro3452Leu)
c.10055C>T (p.Pro3352Leu)
c.7319C>T (p.Pro2440Leu)
c.6212C>T (p.Pro2071Leu)
c.10238C>T (p.Pro3413Leu)
c.5990C>T (p.Pro1997Leu)
c.9218C>T (p.Pro3073Leu)
 gnomAD v4
8g.99853748_99853752delCA913128140VPS13Bc.10434_10438del (p.Ile3479ValfsTer?)
n.10504_10508del
c.*6116_*6120del (n.*6116_*6120del)
c.10359_10363del (p.Ile3454ValfsTer?)
c.10431_10435del (p.Ile3478ValfsTer?)
c.10356_10360del (p.Ile3453ValfsTer?)
c.10056_10060del (p.Ile3353ValfsTer?)
c.7320_7324del (p.Ile2441ValfsTer?)
c.6213_6217del (p.Ile2072ValfsTer?)
c.10239_10243del (p.Ile3414ValfsTer?)
c.5991_5995del (p.Ile1998ValfsTer?)
c.9219_9223del (p.Ile3074ValfsTer?)
8g.99853748C>ACA462458240VPS13Bc.10434C>A (p.Pro3478=)
n.10504C>A
c.*6116C>A (n.*6116C>A)
c.10359C>A (p.Pro3453=)
c.10431C>A (p.Pro3477=)
c.10356C>A (p.Pro3452=)
c.10056C>A (p.Pro3352=)
c.7320C>A (p.Pro2440=)
c.6213C>A (p.Pro2071=)
c.10239C>A (p.Pro3413=)
c.5991C>A (p.Pro1997=)
c.9219C>A (p.Pro3073=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853748C>GCA462458242VPS13Bc.10434C>G (p.Pro3478=)
n.10504C>G
c.*6116C>G (n.*6116C>G)
c.10359C>G (p.Pro3453=)
c.10431C>G (p.Pro3477=)
c.10356C>G (p.Pro3452=)
c.10056C>G (p.Pro3352=)
c.7320C>G (p.Pro2440=)
c.6213C>G (p.Pro2071=)
c.10239C>G (p.Pro3413=)
c.5991C>G (p.Pro1997=)
c.9219C>G (p.Pro3073=)
8g.99853748C>TCA462458243VPS13Bc.10434C>T (p.Pro3478=)
n.10504C>T
c.*6116C>T (n.*6116C>T)
c.10359C>T (p.Pro3453=)
c.10431C>T (p.Pro3477=)
c.10356C>T (p.Pro3452=)
c.10056C>T (p.Pro3352=)
c.7320C>T (p.Pro2440=)
c.6213C>T (p.Pro2071=)
c.10239C>T (p.Pro3413=)
c.5991C>T (p.Pro1997=)
c.9219C>T (p.Pro3073=)
 ClinVar dbSNP
8g.99853750_99853753delCA658821912VPS13Bc.10436_10439del (p.Ile3479SerfsTer30)
n.10506_10509del
c.*6118_*6121del (n.*6118_*6121del)
c.10361_10364del (p.Ile3454SerfsTer30)
c.10433_10436del (p.Ile3478SerfsTer30)
c.10358_10361del (p.Ile3453SerfsTer30)
c.10058_10061del (p.Ile3353SerfsTer30)
c.7322_7325del (p.Ile2441SerfsTer30)
c.6215_6218del (p.Ile2072SerfsTer30)
c.10241_10244del (p.Ile3414SerfsTer30)
c.5993_5996del (p.Ile1998SerfsTer30)
c.9221_9224del (p.Ile3074SerfsTer30)
 ClinVar dbSNP
8g.99853749A>CCA371781749VPS13Bc.10435A>C (p.Ile3479Leu)
n.10505A>C
c.*6117A>C (n.*6117A>C)
c.10360A>C (p.Ile3454Leu)
c.10432A>C (p.Ile3478Leu)
c.10357A>C (p.Ile3453Leu)
c.10057A>C (p.Ile3353Leu)
c.7321A>C (p.Ile2441Leu)
c.6214A>C (p.Ile2072Leu)
c.10240A>C (p.Ile3414Leu)
c.5992A>C (p.Ile1998Leu)
c.9220A>C (p.Ile3074Leu)
8g.99853749A>GCA371781751VPS13Bc.10435A>G (p.Ile3479Val)
n.10505A>G
c.*6117A>G (n.*6117A>G)
c.10360A>G (p.Ile3454Val)
c.10432A>G (p.Ile3478Val)
c.10357A>G (p.Ile3453Val)
c.10057A>G (p.Ile3353Val)
c.7321A>G (p.Ile2441Val)
c.6214A>G (p.Ile2072Val)
c.10240A>G (p.Ile3414Val)
c.5992A>G (p.Ile1998Val)
c.9220A>G (p.Ile3074Val)
8g.99853749A>TCA371781750VPS13Bc.10435A>T (p.Ile3479Phe)
n.10505A>T
c.*6117A>T (n.*6117A>T)
c.10360A>T (p.Ile3454Phe)
c.10432A>T (p.Ile3478Phe)
c.10357A>T (p.Ile3453Phe)
c.10057A>T (p.Ile3353Phe)
c.7321A>T (p.Ile2441Phe)
c.6214A>T (p.Ile2072Phe)
c.10240A>T (p.Ile3414Phe)
c.5992A>T (p.Ile1998Phe)
c.9220A>T (p.Ile3074Phe)
8g.99853750T>ACA371781753VPS13Bc.10436T>A (p.Ile3479Asn)
n.10506T>A
c.*6118T>A (n.*6118T>A)
c.10361T>A (p.Ile3454Asn)
c.10433T>A (p.Ile3478Asn)
c.10358T>A (p.Ile3453Asn)
c.10058T>A (p.Ile3353Asn)
c.7322T>A (p.Ile2441Asn)
c.6215T>A (p.Ile2072Asn)
c.10241T>A (p.Ile3414Asn)
c.5993T>A (p.Ile1998Asn)
c.9221T>A (p.Ile3074Asn)
8g.99853750T>CCA371781756VPS13Bc.10436T>C (p.Ile3479Thr)
n.10506T>C
c.*6118T>C (n.*6118T>C)
c.10361T>C (p.Ile3454Thr)
c.10433T>C (p.Ile3478Thr)
c.10358T>C (p.Ile3453Thr)
c.10058T>C (p.Ile3353Thr)
c.7322T>C (p.Ile2441Thr)
c.6215T>C (p.Ile2072Thr)
c.10241T>C (p.Ile3414Thr)
c.5993T>C (p.Ile1998Thr)
c.9221T>C (p.Ile3074Thr)
8g.99853750T>GCA371781758VPS13Bc.10436T>G (p.Ile3479Ser)
n.10506T>G
c.*6118T>G (n.*6118T>G)
c.10361T>G (p.Ile3454Ser)
c.10433T>G (p.Ile3478Ser)
c.10358T>G (p.Ile3453Ser)
c.10058T>G (p.Ile3353Ser)
c.7322T>G (p.Ile2441Ser)
c.6215T>G (p.Ile2072Ser)
c.10241T>G (p.Ile3414Ser)
c.5993T>G (p.Ile1998Ser)
c.9221T>G (p.Ile3074Ser)
8g.99853751T>ACA462458246VPS13Bc.10437T>A (p.Ile3479=)
n.10507T>A
c.*6119T>A (n.*6119T>A)
c.10362T>A (p.Ile3454=)
c.10434T>A (p.Ile3478=)
c.10359T>A (p.Ile3453=)
c.10059T>A (p.Ile3353=)
c.7323T>A (p.Ile2441=)
c.6216T>A (p.Ile2072=)
c.10242T>A (p.Ile3414=)
c.5994T>A (p.Ile1998=)
c.9222T>A (p.Ile3074=)
8g.99853751T>CCA462458245VPS13Bc.10437T>C (p.Ile3479=)
n.10507T>C
c.*6119T>C (n.*6119T>C)
c.10362T>C (p.Ile3454=)
c.10434T>C (p.Ile3478=)
c.10359T>C (p.Ile3453=)
c.10059T>C (p.Ile3353=)
c.7323T>C (p.Ile2441=)
c.6216T>C (p.Ile2072=)
c.10242T>C (p.Ile3414=)
c.5994T>C (p.Ile1998=)
c.9222T>C (p.Ile3074=)
8g.99853751T>GCA371781761VPS13Bc.10437T>G (p.Ile3479Met)
n.10507T>G
c.*6119T>G (n.*6119T>G)
c.10362T>G (p.Ile3454Met)
c.10434T>G (p.Ile3478Met)
c.10359T>G (p.Ile3453Met)
c.10059T>G (p.Ile3353Met)
c.7323T>G (p.Ile2441Met)
c.6216T>G (p.Ile2072Met)
c.10242T>G (p.Ile3414Met)
c.5994T>G (p.Ile1998Met)
c.9222T>G (p.Ile3074Met)
8g.99853752C>ACA371781765VPS13Bc.10438C>A (p.Gln3480Lys)
n.10508C>A
c.*6120C>A (n.*6120C>A)
c.10363C>A (p.Gln3455Lys)
c.10435C>A (p.Gln3479Lys)
c.10360C>A (p.Gln3454Lys)
c.10060C>A (p.Gln3354Lys)
c.7324C>A (p.Gln2442Lys)
c.6217C>A (p.Gln2073Lys)
c.10243C>A (p.Gln3415Lys)
c.5995C>A (p.Gln1999Lys)
c.9223C>A (p.Gln3075Lys)
8g.99853752C>GCA371781770VPS13Bc.10438C>G (p.Gln3480Glu)
n.10508C>G
c.*6120C>G (n.*6120C>G)
c.10363C>G (p.Gln3455Glu)
c.10435C>G (p.Gln3479Glu)
c.10360C>G (p.Gln3454Glu)
c.10060C>G (p.Gln3354Glu)
c.7324C>G (p.Gln2442Glu)
c.6217C>G (p.Gln2073Glu)
c.10243C>G (p.Gln3415Glu)
c.5995C>G (p.Gln1999Glu)
c.9223C>G (p.Gln3075Glu)
8g.99853752C>TCA371781771VPS13Bc.10438C>T (p.Gln3480Ter)
n.10508C>T
c.*6120C>T (n.*6120C>T)
c.10363C>T (p.Gln3455Ter)
c.10435C>T (p.Gln3479Ter)
c.10360C>T (p.Gln3454Ter)
c.10060C>T (p.Gln3354Ter)
c.7324C>T (p.Gln2442Ter)
c.6217C>T (p.Gln2073Ter)
c.10243C>T (p.Gln3415Ter)
c.5995C>T (p.Gln1999Ter)
c.9223C>T (p.Gln3075Ter)
8g.99853753A>CCA371781772VPS13Bc.10439A>C (p.Gln3480Pro)
n.10509A>C
c.*6121A>C (n.*6121A>C)
c.10364A>C (p.Gln3455Pro)
c.10436A>C (p.Gln3479Pro)
c.10361A>C (p.Gln3454Pro)
c.10061A>C (p.Gln3354Pro)
c.7325A>C (p.Gln2442Pro)
c.6218A>C (p.Gln2073Pro)
c.10244A>C (p.Gln3415Pro)
c.5996A>C (p.Gln1999Pro)
c.9224A>C (p.Gln3075Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.99853753A>GCA4824936VPS13Bc.10439A>G (p.Gln3480Arg)
n.10509A>G
c.*6121A>G (n.*6121A>G)
c.10364A>G (p.Gln3455Arg)
c.10436A>G (p.Gln3479Arg)
c.10361A>G (p.Gln3454Arg)
c.10061A>G (p.Gln3354Arg)
c.7325A>G (p.Gln2442Arg)
c.6218A>G (p.Gln2073Arg)
c.10244A>G (p.Gln3415Arg)
c.5996A>G (p.Gln1999Arg)
c.9224A>G (p.Gln3075Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853753A>TCA371781779VPS13Bc.10439A>T (p.Gln3480Leu)
n.10509A>T
c.*6121A>T (n.*6121A>T)
c.10364A>T (p.Gln3455Leu)
c.10436A>T (p.Gln3479Leu)
c.10361A>T (p.Gln3454Leu)
c.10061A>T (p.Gln3354Leu)
c.7325A>T (p.Gln2442Leu)
c.6218A>T (p.Gln2073Leu)
c.10244A>T (p.Gln3415Leu)
c.5996A>T (p.Gln1999Leu)
c.9224A>T (p.Gln3075Leu)
8g.99853754G>ACA462458249VPS13Bc.10440G>A (p.Gln3480=)
n.10510G>A
c.*6122G>A (n.*6122G>A)
c.10365G>A (p.Gln3455=)
c.10437G>A (p.Gln3479=)
c.10362G>A (p.Gln3454=)
c.10062G>A (p.Gln3354=)
c.7326G>A (p.Gln2442=)
c.6219G>A (p.Gln2073=)
c.10245G>A (p.Gln3415=)
c.5997G>A (p.Gln1999=)
c.9225G>A (p.Gln3075=)
 dbSNP gnomAD v2 gnomAD v4
8g.99853754G>CCA371781783VPS13Bc.10440G>C (p.Gln3480His)
n.10510G>C
c.*6122G>C (n.*6122G>C)
c.10365G>C (p.Gln3455His)
c.10437G>C (p.Gln3479His)
c.10362G>C (p.Gln3454His)
c.10062G>C (p.Gln3354His)
c.7326G>C (p.Gln2442His)
c.6219G>C (p.Gln2073His)
c.10245G>C (p.Gln3415His)
c.5997G>C (p.Gln1999His)
c.9225G>C (p.Gln3075His)
8g.99853754G>TCA371781787VPS13Bc.10440G>T (p.Gln3480His)
n.10510G>T
c.*6122G>T (n.*6122G>T)
c.10365G>T (p.Gln3455His)
c.10437G>T (p.Gln3479His)
c.10362G>T (p.Gln3454His)
c.10062G>T (p.Gln3354His)
c.7326G>T (p.Gln2442His)
c.6219G>T (p.Gln2073His)
c.10245G>T (p.Gln3415His)
c.5997G>T (p.Gln1999His)
c.9225G>T (p.Gln3075His)
8g.99853755T>ACA371781790VPS13Bc.10441T>A (p.Cys3481Ser)
n.10511T>A
c.*6123T>A (n.*6123T>A)
c.10366T>A (p.Cys3456Ser)
c.10438T>A (p.Cys3480Ser)
c.10363T>A (p.Cys3455Ser)
c.10063T>A (p.Cys3355Ser)
c.7327T>A (p.Cys2443Ser)
c.6220T>A (p.Cys2074Ser)
c.10246T>A (p.Cys3416Ser)
c.5998T>A (p.Cys2000Ser)
c.9226T>A (p.Cys3076Ser)
8g.99853755T>CCA371781793VPS13Bc.10441T>C (p.Cys3481Arg)
n.10511T>C
c.*6123T>C (n.*6123T>C)
c.10366T>C (p.Cys3456Arg)
c.10438T>C (p.Cys3480Arg)
c.10363T>C (p.Cys3455Arg)
c.10063T>C (p.Cys3355Arg)
c.7327T>C (p.Cys2443Arg)
c.6220T>C (p.Cys2074Arg)
c.10246T>C (p.Cys3416Arg)
c.5998T>C (p.Cys2000Arg)
c.9226T>C (p.Cys3076Arg)
8g.99853755T>GCA371781791VPS13Bc.10441T>G (p.Cys3481Gly)
n.10511T>G
c.*6123T>G (n.*6123T>G)
c.10366T>G (p.Cys3456Gly)
c.10438T>G (p.Cys3480Gly)
c.10363T>G (p.Cys3455Gly)
c.10063T>G (p.Cys3355Gly)
c.7327T>G (p.Cys2443Gly)
c.6220T>G (p.Cys2074Gly)
c.10246T>G (p.Cys3416Gly)
c.5998T>G (p.Cys2000Gly)
c.9226T>G (p.Cys3076Gly)
8g.99853756G>ACA371782505VPS13Bc.10442G>A (p.Cys3481Tyr)
n.10512G>A
c.*6124G>A (n.*6124G>A)
c.10367G>A (p.Cys3456Tyr)
c.10439G>A (p.Cys3480Tyr)
c.10364G>A (p.Cys3455Tyr)
c.10064G>A (p.Cys3355Tyr)
c.7328G>A (p.Cys2443Tyr)
c.6221G>A (p.Cys2074Tyr)
c.10247G>A (p.Cys3416Tyr)
c.5999G>A (p.Cys2000Tyr)
c.9227G>A (p.Cys3076Tyr)
8g.99853756G>CCA371782508VPS13Bc.10442G>C (p.Cys3481Ser)
n.10512G>C
c.*6124G>C (n.*6124G>C)
c.10367G>C (p.Cys3456Ser)
c.10439G>C (p.Cys3480Ser)
c.10364G>C (p.Cys3455Ser)
c.10064G>C (p.Cys3355Ser)
c.7328G>C (p.Cys2443Ser)
c.6221G>C (p.Cys2074Ser)
c.10247G>C (p.Cys3416Ser)
c.5999G>C (p.Cys2000Ser)
c.9227G>C (p.Cys3076Ser)
8g.99853756G>TCA371782511VPS13Bc.10442G>T (p.Cys3481Phe)
n.10512G>T
c.*6124G>T (n.*6124G>T)
c.10367G>T (p.Cys3456Phe)
c.10439G>T (p.Cys3480Phe)
c.10364G>T (p.Cys3455Phe)
c.10064G>T (p.Cys3355Phe)
c.7328G>T (p.Cys2443Phe)
c.6221G>T (p.Cys2074Phe)
c.10247G>T (p.Cys3416Phe)
c.5999G>T (p.Cys2000Phe)
c.9227G>T (p.Cys3076Phe)
8g.99853757T>ACA371782516VPS13Bc.10443T>A (p.Cys3481Ter)
n.10513T>A
c.*6125T>A (n.*6125T>A)
c.10368T>A (p.Cys3456Ter)
c.10440T>A (p.Cys3480Ter)
c.10365T>A (p.Cys3455Ter)
c.10065T>A (p.Cys3355Ter)
c.7329T>A (p.Cys2443Ter)
c.6222T>A (p.Cys2074Ter)
c.10248T>A (p.Cys3416Ter)
c.6000T>A (p.Cys2000Ter)
c.9228T>A (p.Cys3076Ter)
8g.99853757T>CCA462458154VPS13Bc.10443T>C (p.Cys3481=)
n.10513T>C
c.*6125T>C (n.*6125T>C)
c.10368T>C (p.Cys3456=)
c.10440T>C (p.Cys3480=)
c.10365T>C (p.Cys3455=)
c.10065T>C (p.Cys3355=)
c.7329T>C (p.Cys2443=)
c.6222T>C (p.Cys2074=)
c.10248T>C (p.Cys3416=)
c.6000T>C (p.Cys2000=)
c.9228T>C (p.Cys3076=)
8g.99853757T>GCA371782517VPS13Bc.10443T>G (p.Cys3481Trp)
n.10513T>G
c.*6125T>G (n.*6125T>G)
c.10368T>G (p.Cys3456Trp)
c.10440T>G (p.Cys3480Trp)
c.10365T>G (p.Cys3455Trp)
c.10065T>G (p.Cys3355Trp)
c.7329T>G (p.Cys2443Trp)
c.6222T>G (p.Cys2074Trp)
c.10248T>G (p.Cys3416Trp)
c.6000T>G (p.Cys2000Trp)
c.9228T>G (p.Cys3076Trp)
8g.99853758T>ACA371782523VPS13Bc.10444T>A (p.Ser3482Thr)
n.10514T>A
c.*6126T>A (n.*6126T>A)
c.10369T>A (p.Ser3457Thr)
c.10441T>A (p.Ser3481Thr)
c.10366T>A (p.Ser3456Thr)
c.10066T>A (p.Ser3356Thr)
c.7330T>A (p.Ser2444Thr)
c.6223T>A (p.Ser2075Thr)
c.10249T>A (p.Ser3417Thr)
c.6001T>A (p.Ser2001Thr)
c.9229T>A (p.Ser3077Thr)
8g.99853758T>CCA371782520VPS13Bc.10444T>C (p.Ser3482Pro)
n.10514T>C
c.*6126T>C (n.*6126T>C)
c.10369T>C (p.Ser3457Pro)
c.10441T>C (p.Ser3481Pro)
c.10366T>C (p.Ser3456Pro)
c.10066T>C (p.Ser3356Pro)
c.7330T>C (p.Ser2444Pro)
c.6223T>C (p.Ser2075Pro)
c.10249T>C (p.Ser3417Pro)
c.6001T>C (p.Ser2001Pro)
c.9229T>C (p.Ser3077Pro)
8g.99853758T>GCA371782518VPS13Bc.10444T>G (p.Ser3482Ala)
n.10514T>G
c.*6126T>G (n.*6126T>G)
c.10369T>G (p.Ser3457Ala)
c.10441T>G (p.Ser3481Ala)
c.10366T>G (p.Ser3456Ala)
c.10066T>G (p.Ser3356Ala)
c.7330T>G (p.Ser2444Ala)
c.6223T>G (p.Ser2075Ala)
c.10249T>G (p.Ser3417Ala)
c.6001T>G (p.Ser2001Ala)
c.9229T>G (p.Ser3077Ala)
8g.99853759C>ACA371782527VPS13Bc.10445C>A (p.Ser3482Tyr)
n.10515C>A
c.*6127C>A (n.*6127C>A)
c.10370C>A (p.Ser3457Tyr)
c.10442C>A (p.Ser3481Tyr)
c.10367C>A (p.Ser3456Tyr)
c.10067C>A (p.Ser3356Tyr)
c.7331C>A (p.Ser2444Tyr)
c.6224C>A (p.Ser2075Tyr)
c.10250C>A (p.Ser3417Tyr)
c.6002C>A (p.Ser2001Tyr)
c.9230C>A (p.Ser3077Tyr)
8g.99853759C>GCA371782532VPS13Bc.10445C>G (p.Ser3482Cys)
n.10515C>G
c.*6127C>G (n.*6127C>G)
c.10370C>G (p.Ser3457Cys)
c.10442C>G (p.Ser3481Cys)
c.10367C>G (p.Ser3456Cys)
c.10067C>G (p.Ser3356Cys)
c.7331C>G (p.Ser2444Cys)
c.6224C>G (p.Ser2075Cys)
c.10250C>G (p.Ser3417Cys)
c.6002C>G (p.Ser2001Cys)
c.9230C>G (p.Ser3077Cys)
8g.99853759C>TCA371782534VPS13Bc.10445C>T (p.Ser3482Phe)
n.10515C>T
c.*6127C>T (n.*6127C>T)
c.10370C>T (p.Ser3457Phe)
c.10442C>T (p.Ser3481Phe)
c.10367C>T (p.Ser3456Phe)
c.10067C>T (p.Ser3356Phe)
c.7331C>T (p.Ser2444Phe)
c.6224C>T (p.Ser2075Phe)
c.10250C>T (p.Ser3417Phe)
c.6002C>T (p.Ser2001Phe)
c.9230C>T (p.Ser3077Phe)
 dbSNP gnomAD v3 gnomAD v4
8g.99853760C>ACA462458157VPS13Bc.10446C>A (p.Ser3482=)
n.10516C>A
c.*6128C>A (n.*6128C>A)
c.10371C>A (p.Ser3457=)
c.10443C>A (p.Ser3481=)
c.10368C>A (p.Ser3456=)
c.10068C>A (p.Ser3356=)
c.7332C>A (p.Ser2444=)
c.6225C>A (p.Ser2075=)
c.10251C>A (p.Ser3417=)
c.6003C>A (p.Ser2001=)
c.9231C>A (p.Ser3077=)
8g.99853760C>GCA462458158VPS13Bc.10446C>G (p.Ser3482=)
n.10516C>G
c.*6128C>G (n.*6128C>G)
c.10371C>G (p.Ser3457=)
c.10443C>G (p.Ser3481=)
c.10368C>G (p.Ser3456=)
c.10068C>G (p.Ser3356=)
c.7332C>G (p.Ser2444=)
c.6225C>G (p.Ser2075=)
c.10251C>G (p.Ser3417=)
c.6003C>G (p.Ser2001=)
c.9231C>G (p.Ser3077=)
8g.99853760C>TCA462458159VPS13Bc.10446C>T (p.Ser3482=)
n.10516C>T
c.*6128C>T (n.*6128C>T)
c.10371C>T (p.Ser3457=)
c.10443C>T (p.Ser3481=)
c.10368C>T (p.Ser3456=)
c.10068C>T (p.Ser3356=)
c.7332C>T (p.Ser2444=)
c.6225C>T (p.Ser2075=)
c.10251C>T (p.Ser3417=)
c.6003C>T (p.Ser2001=)
c.9231C>T (p.Ser3077=)
 ClinVar
8g.99853761A>CCA371782535VPS13Bc.10447A>C (p.Lys3483Gln)
n.10517A>C
c.*6129A>C (n.*6129A>C)
c.10372A>C (p.Lys3458Gln)
c.10444A>C (p.Lys3482Gln)
c.10369A>C (p.Lys3457Gln)
c.10069A>C (p.Lys3357Gln)
c.7333A>C (p.Lys2445Gln)
c.6226A>C (p.Lys2076Gln)
c.10252A>C (p.Lys3418Gln)
c.6004A>C (p.Lys2002Gln)
c.9232A>C (p.Lys3078Gln)
8g.99853761A>GCA371782537VPS13Bc.10447A>G (p.Lys3483Glu)
n.10517A>G
c.*6129A>G (n.*6129A>G)
c.10372A>G (p.Lys3458Glu)
c.10444A>G (p.Lys3482Glu)
c.10369A>G (p.Lys3457Glu)
c.10069A>G (p.Lys3357Glu)
c.7333A>G (p.Lys2445Glu)
c.6226A>G (p.Lys2076Glu)
c.10252A>G (p.Lys3418Glu)
c.6004A>G (p.Lys2002Glu)
c.9232A>G (p.Lys3078Glu)
 dbSNP
8g.99853761A>TCA371782540VPS13Bc.10447A>T (p.Lys3483Ter)
n.10517A>T
c.*6129A>T (n.*6129A>T)
c.10372A>T (p.Lys3458Ter)
c.10444A>T (p.Lys3482Ter)
c.10369A>T (p.Lys3457Ter)
c.10069A>T (p.Lys3357Ter)
c.7333A>T (p.Lys2445Ter)
c.6226A>T (p.Lys2076Ter)
c.10252A>T (p.Lys3418Ter)
c.6004A>T (p.Lys2002Ter)
c.9232A>T (p.Lys3078Ter)
8g.99853762A>CCA4824937VPS13Bc.10448A>C (p.Lys3483Thr)
n.10518A>C
c.*6130A>C (n.*6130A>C)
c.10373A>C (p.Lys3458Thr)
c.10445A>C (p.Lys3482Thr)
c.10370A>C (p.Lys3457Thr)
c.10070A>C (p.Lys3357Thr)
c.7334A>C (p.Lys2445Thr)
c.6227A>C (p.Lys2076Thr)
c.10253A>C (p.Lys3418Thr)
c.6005A>C (p.Lys2002Thr)
c.9233A>C (p.Lys3078Thr)
 dbSNP ExAC gnomAD v2
8g.99853762A>GCA371782551VPS13Bc.10448A>G (p.Lys3483Arg)
n.10518A>G
c.*6130A>G (n.*6130A>G)
c.10373A>G (p.Lys3458Arg)
c.10445A>G (p.Lys3482Arg)
c.10370A>G (p.Lys3457Arg)
c.10070A>G (p.Lys3357Arg)
c.7334A>G (p.Lys2445Arg)
c.6227A>G (p.Lys2076Arg)
c.10253A>G (p.Lys3418Arg)
c.6005A>G (p.Lys2002Arg)
c.9233A>G (p.Lys3078Arg)
 gnomAD v4
8g.99853762A>TCA371782550VPS13Bc.10448A>T (p.Lys3483Ile)
n.10518A>T
c.*6130A>T (n.*6130A>T)
c.10373A>T (p.Lys3458Ile)
c.10445A>T (p.Lys3482Ile)
c.10370A>T (p.Lys3457Ile)
c.10070A>T (p.Lys3357Ile)
c.7334A>T (p.Lys2445Ile)
c.6227A>T (p.Lys2076Ile)
c.10253A>T (p.Lys3418Ile)
c.6005A>T (p.Lys2002Ile)
c.9233A>T (p.Lys3078Ile)
8g.99853763A>CCA371782552VPS13Bc.10449A>C (p.Lys3483Asn)
n.10519A>C
c.*6131A>C (n.*6131A>C)
c.10374A>C (p.Lys3458Asn)
c.10446A>C (p.Lys3482Asn)
c.10371A>C (p.Lys3457Asn)
c.10071A>C (p.Lys3357Asn)
c.7335A>C (p.Lys2445Asn)
c.6228A>C (p.Lys2076Asn)
c.10254A>C (p.Lys3418Asn)
c.6006A>C (p.Lys2002Asn)
c.9234A>C (p.Lys3078Asn)
8g.99853763A>GCA462458162VPS13Bc.10449A>G (p.Lys3483=)
n.10519A>G
c.*6131A>G (n.*6131A>G)
c.10374A>G (p.Lys3458=)
c.10446A>G (p.Lys3482=)
c.10371A>G (p.Lys3457=)
c.10071A>G (p.Lys3357=)
c.7335A>G (p.Lys2445=)
c.6228A>G (p.Lys2076=)
c.10254A>G (p.Lys3418=)
c.6006A>G (p.Lys2002=)
c.9234A>G (p.Lys3078=)
8g.99853763A>TCA371782554VPS13Bc.10449A>T (p.Lys3483Asn)
n.10519A>T
c.*6131A>T (n.*6131A>T)
c.10374A>T (p.Lys3458Asn)
c.10446A>T (p.Lys3482Asn)
c.10371A>T (p.Lys3457Asn)
c.10071A>T (p.Lys3357Asn)
c.7335A>T (p.Lys2445Asn)
c.6228A>T (p.Lys2076Asn)
c.10254A>T (p.Lys3418Asn)
c.6006A>T (p.Lys2002Asn)
c.9234A>T (p.Lys3078Asn)
8g.99853764A>CCA371782557VPS13Bc.10450A>C (p.Met3484Leu)
n.10520A>C
c.*6132A>C (n.*6132A>C)
c.10375A>C (p.Met3459Leu)
c.10447A>C (p.Met3483Leu)
c.10372A>C (p.Met3458Leu)
c.10072A>C (p.Met3358Leu)
c.7336A>C (p.Met2446Leu)
c.6229A>C (p.Met2077Leu)
c.10255A>C (p.Met3419Leu)
c.6007A>C (p.Met2003Leu)
c.9235A>C (p.Met3079Leu)
8g.99853764A>GCA371782560VPS13Bc.10450A>G (p.Met3484Val)
n.10520A>G
c.*6132A>G (n.*6132A>G)
c.10375A>G (p.Met3459Val)
c.10447A>G (p.Met3483Val)
c.10372A>G (p.Met3458Val)
c.10072A>G (p.Met3358Val)
c.7336A>G (p.Met2446Val)
c.6229A>G (p.Met2077Val)
c.10255A>G (p.Met3419Val)
c.6007A>G (p.Met2003Val)
c.9235A>G (p.Met3079Val)
8g.99853764A>TCA371782561VPS13Bc.10450A>T (p.Met3484Leu)
n.10520A>T
c.*6132A>T (n.*6132A>T)
c.10375A>T (p.Met3459Leu)
c.10447A>T (p.Met3483Leu)
c.10372A>T (p.Met3458Leu)
c.10072A>T (p.Met3358Leu)
c.7336A>T (p.Met2446Leu)
c.6229A>T (p.Met2077Leu)
c.10255A>T (p.Met3419Leu)
c.6007A>T (p.Met2003Leu)
c.9235A>T (p.Met3079Leu)
8g.99853765T>ACA371782562VPS13Bc.10451T>A (p.Met3484Lys)
n.10521T>A
c.*6133T>A (n.*6133T>A)
c.10376T>A (p.Met3459Lys)
c.10448T>A (p.Met3483Lys)
c.10373T>A (p.Met3458Lys)
c.10073T>A (p.Met3358Lys)
c.7337T>A (p.Met2446Lys)
c.6230T>A (p.Met2077Lys)
c.10256T>A (p.Met3419Lys)
c.6008T>A (p.Met2003Lys)
c.9236T>A (p.Met3079Lys)
8g.99853765T>CCA4824938VPS13Bc.10451T>C (p.Met3484Thr)
n.10521T>C
c.*6133T>C (n.*6133T>C)
c.10376T>C (p.Met3459Thr)
c.10448T>C (p.Met3483Thr)
c.10373T>C (p.Met3458Thr)
c.10073T>C (p.Met3358Thr)
c.7337T>C (p.Met2446Thr)
c.6230T>C (p.Met2077Thr)
c.10256T>C (p.Met3419Thr)
c.6008T>C (p.Met2003Thr)
c.9236T>C (p.Met3079Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853765T>GCA371782572VPS13Bc.10451T>G (p.Met3484Arg)
n.10521T>G
c.*6133T>G (n.*6133T>G)
c.10376T>G (p.Met3459Arg)
c.10448T>G (p.Met3483Arg)
c.10373T>G (p.Met3458Arg)
c.10073T>G (p.Met3358Arg)
c.7337T>G (p.Met2446Arg)
c.6230T>G (p.Met2077Arg)
c.10256T>G (p.Met3419Arg)
c.6008T>G (p.Met2003Arg)
c.9236T>G (p.Met3079Arg)
8g.99853766G>ACA4824939VPS13Bc.10452G>A (p.Met3484Ile)
n.10522G>A
c.*6134G>A (n.*6134G>A)
c.10377G>A (p.Met3459Ile)
c.10449G>A (p.Met3483Ile)
c.10374G>A (p.Met3458Ile)
c.10074G>A (p.Met3358Ile)
c.7338G>A (p.Met2446Ile)
c.6231G>A (p.Met2077Ile)
c.10257G>A (p.Met3419Ile)
c.6009G>A (p.Met2003Ile)
c.9237G>A (p.Met3079Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853766G>CCA371782578VPS13Bc.10452G>C (p.Met3484Ile)
n.10522G>C
c.*6134G>C (n.*6134G>C)
c.10377G>C (p.Met3459Ile)
c.10449G>C (p.Met3483Ile)
c.10374G>C (p.Met3458Ile)
c.10074G>C (p.Met3358Ile)
c.7338G>C (p.Met2446Ile)
c.6231G>C (p.Met2077Ile)
c.10257G>C (p.Met3419Ile)
c.6009G>C (p.Met2003Ile)
c.9237G>C (p.Met3079Ile)
8g.99853766G>TCA371782579VPS13Bc.10452G>T (p.Met3484Ile)
n.10522G>T
c.*6134G>T (n.*6134G>T)
c.10377G>T (p.Met3459Ile)
c.10449G>T (p.Met3483Ile)
c.10374G>T (p.Met3458Ile)
c.10074G>T (p.Met3358Ile)
c.7338G>T (p.Met2446Ile)
c.6231G>T (p.Met2077Ile)
c.10257G>T (p.Met3419Ile)
c.6009G>T (p.Met2003Ile)
c.9237G>T (p.Met3079Ile)
8g.99853767C>ACA371782583VPS13Bc.10453C>A (p.Gln3485Lys)
n.10523C>A
c.*6135C>A (n.*6135C>A)
c.10378C>A (p.Gln3460Lys)
c.10450C>A (p.Gln3484Lys)
c.10375C>A (p.Gln3459Lys)
c.10075C>A (p.Gln3359Lys)
c.7339C>A (p.Gln2447Lys)
c.6232C>A (p.Gln2078Lys)
c.10258C>A (p.Gln3420Lys)
c.6010C>A (p.Gln2004Lys)
c.9238C>A (p.Gln3080Lys)
 gnomAD v4
8g.99853767C>GCA371782580VPS13Bc.10453C>G (p.Gln3485Glu)
n.10523C>G
c.*6135C>G (n.*6135C>G)
c.10378C>G (p.Gln3460Glu)
c.10450C>G (p.Gln3484Glu)
c.10375C>G (p.Gln3459Glu)
c.10075C>G (p.Gln3359Glu)
c.7339C>G (p.Gln2447Glu)
c.6232C>G (p.Gln2078Glu)
c.10258C>G (p.Gln3420Glu)
c.6010C>G (p.Gln2004Glu)
c.9238C>G (p.Gln3080Glu)
8g.99853767C>TCA371782581VPS13Bc.10453C>T (p.Gln3485Ter)
n.10523C>T
c.*6135C>T (n.*6135C>T)
c.10378C>T (p.Gln3460Ter)
c.10450C>T (p.Gln3484Ter)
c.10375C>T (p.Gln3459Ter)
c.10075C>T (p.Gln3359Ter)
c.7339C>T (p.Gln2447Ter)
c.6232C>T (p.Gln2078Ter)
c.10258C>T (p.Gln3420Ter)
c.6010C>T (p.Gln2004Ter)
c.9238C>T (p.Gln3080Ter)
8g.99853768A>CCA371782590VPS13Bc.10454A>C (p.Gln3485Pro)
n.10524A>C
c.*6136A>C (n.*6136A>C)
c.10379A>C (p.Gln3460Pro)
c.10451A>C (p.Gln3484Pro)
c.10376A>C (p.Gln3459Pro)
c.10076A>C (p.Gln3359Pro)
c.7340A>C (p.Gln2447Pro)
c.6233A>C (p.Gln2078Pro)
c.10259A>C (p.Gln3420Pro)
c.6011A>C (p.Gln2004Pro)
c.9239A>C (p.Gln3080Pro)
8g.99853768A>GCA371782591VPS13Bc.10454A>G (p.Gln3485Arg)
n.10524A>G
c.*6136A>G (n.*6136A>G)
c.10379A>G (p.Gln3460Arg)
c.10451A>G (p.Gln3484Arg)
c.10376A>G (p.Gln3459Arg)
c.10076A>G (p.Gln3359Arg)
c.7340A>G (p.Gln2447Arg)
c.6233A>G (p.Gln2078Arg)
c.10259A>G (p.Gln3420Arg)
c.6011A>G (p.Gln2004Arg)
c.9239A>G (p.Gln3080Arg)
8g.99853768A>TCA371782592VPS13Bc.10454A>T (p.Gln3485Leu)
n.10524A>T
c.*6136A>T (n.*6136A>T)
c.10379A>T (p.Gln3460Leu)
c.10451A>T (p.Gln3484Leu)
c.10376A>T (p.Gln3459Leu)
c.10076A>T (p.Gln3359Leu)
c.7340A>T (p.Gln2447Leu)
c.6233A>T (p.Gln2078Leu)
c.10259A>T (p.Gln3420Leu)
c.6011A>T (p.Gln2004Leu)
c.9239A>T (p.Gln3080Leu)
8g.99853770_99853771delCA284769VPS13Bc.10456_10457del (p.Leu3487ProfsTer24)
n.10526_10527del
c.*6138_*6139del (n.*6138_*6139del)
c.10381_10382del (p.Leu3462ProfsTer24)
c.10453_10454del (p.Leu3486ProfsTer24)
c.10378_10379del (p.Leu3461ProfsTer24)
c.10078_10079del (p.Leu3361ProfsTer24)
c.7342_7343del (p.Leu2449ProfsTer24)
c.6235_6236del (p.Leu2080ProfsTer24)
c.10261_10262del (p.Leu3422ProfsTer24)
c.6013_6014del (p.Leu2006ProfsTer24)
c.9241_9242del (p.Leu3082ProfsTer24)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853769G>ACA462458171VPS13Bc.10455G>A (p.Gln3485=)
n.10525G>A
c.*6137G>A (n.*6137G>A)
c.10380G>A (p.Gln3460=)
c.10452G>A (p.Gln3484=)
c.10377G>A (p.Gln3459=)
c.10077G>A (p.Gln3359=)
c.7341G>A (p.Gln2447=)
c.6234G>A (p.Gln2078=)
c.10260G>A (p.Gln3420=)
c.6012G>A (p.Gln2004=)
c.9240G>A (p.Gln3080=)
8g.99853769G>CCA371782598VPS13Bc.10455G>C (p.Gln3485His)
n.10525G>C
c.*6137G>C (n.*6137G>C)
c.10380G>C (p.Gln3460His)
c.10452G>C (p.Gln3484His)
c.10377G>C (p.Gln3459His)
c.10077G>C (p.Gln3359His)
c.7341G>C (p.Gln2447His)
c.6234G>C (p.Gln2078His)
c.10260G>C (p.Gln3420His)
c.6012G>C (p.Gln2004His)
c.9240G>C (p.Gln3080His)
8g.99853769G>TCA371782602VPS13Bc.10455G>T (p.Gln3485His)
n.10525G>T
c.*6137G>T (n.*6137G>T)
c.10380G>T (p.Gln3460His)
c.10452G>T (p.Gln3484His)
c.10377G>T (p.Gln3459His)
c.10077G>T (p.Gln3359His)
c.7341G>T (p.Gln2447His)
c.6234G>T (p.Gln2078His)
c.10260G>T (p.Gln3420His)
c.6012G>T (p.Gln2004His)
c.9240G>T (p.Gln3080His)
8g.99853770A>CCA371782610VPS13Bc.10456A>C (p.Ser3486Arg)
n.10526A>C
c.*6138A>C (n.*6138A>C)
c.10381A>C (p.Ser3461Arg)
c.10453A>C (p.Ser3485Arg)
c.10378A>C (p.Ser3460Arg)
c.10078A>C (p.Ser3360Arg)
c.7342A>C (p.Ser2448Arg)
c.6235A>C (p.Ser2079Arg)
c.10261A>C (p.Ser3421Arg)
c.6013A>C (p.Ser2005Arg)
c.9241A>C (p.Ser3081Arg)
8g.99853770A>GCA371782608VPS13Bc.10456A>G (p.Ser3486Gly)
n.10526A>G
c.*6138A>G (n.*6138A>G)
c.10381A>G (p.Ser3461Gly)
c.10453A>G (p.Ser3485Gly)
c.10378A>G (p.Ser3460Gly)
c.10078A>G (p.Ser3360Gly)
c.7342A>G (p.Ser2448Gly)
c.6235A>G (p.Ser2079Gly)
c.10261A>G (p.Ser3421Gly)
c.6013A>G (p.Ser2005Gly)
c.9241A>G (p.Ser3081Gly)
8g.99853770A>TCA371782605VPS13Bc.10456A>T (p.Ser3486Cys)
n.10526A>T
c.*6138A>T (n.*6138A>T)
c.10381A>T (p.Ser3461Cys)
c.10453A>T (p.Ser3485Cys)
c.10378A>T (p.Ser3460Cys)
c.10078A>T (p.Ser3360Cys)
c.7342A>T (p.Ser2448Cys)
c.6235A>T (p.Ser2079Cys)
c.10261A>T (p.Ser3421Cys)
c.6013A>T (p.Ser2005Cys)
c.9241A>T (p.Ser3081Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.99853771G>ACA371782613VPS13Bc.10457G>A (p.Ser3486Asn)
n.10527G>A
c.*6139G>A (n.*6139G>A)
c.10382G>A (p.Ser3461Asn)
c.10454G>A (p.Ser3485Asn)
c.10379G>A (p.Ser3460Asn)
c.10079G>A (p.Ser3360Asn)
c.7343G>A (p.Ser2448Asn)
c.6236G>A (p.Ser2079Asn)
c.10262G>A (p.Ser3421Asn)
c.6014G>A (p.Ser2005Asn)
c.9242G>A (p.Ser3081Asn)
 ClinVar dbSNP
8g.99853771G>CCA371782615VPS13Bc.10457G>C (p.Ser3486Thr)
n.10527G>C
c.*6139G>C (n.*6139G>C)
c.10382G>C (p.Ser3461Thr)
c.10454G>C (p.Ser3485Thr)
c.10379G>C (p.Ser3460Thr)
c.10079G>C (p.Ser3360Thr)
c.7343G>C (p.Ser2448Thr)
c.6236G>C (p.Ser2079Thr)
c.10262G>C (p.Ser3421Thr)
c.6014G>C (p.Ser2005Thr)
c.9242G>C (p.Ser3081Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99853771G>TCA371782618VPS13Bc.10457G>T (p.Ser3486Ile)
n.10527G>T
c.*6139G>T (n.*6139G>T)
c.10382G>T (p.Ser3461Ile)
c.10454G>T (p.Ser3485Ile)
c.10379G>T (p.Ser3460Ile)
c.10079G>T (p.Ser3360Ile)
c.7343G>T (p.Ser2448Ile)
c.6236G>T (p.Ser2079Ile)
c.10262G>T (p.Ser3421Ile)
c.6014G>T (p.Ser2005Ile)
c.9242G>T (p.Ser3081Ile)
8g.99853772T>ACA371782623VPS13Bc.10458T>A (p.Ser3486Arg)
n.10528T>A
c.*6140T>A (n.*6140T>A)
c.10383T>A (p.Ser3461Arg)
c.10455T>A (p.Ser3485Arg)
c.10380T>A (p.Ser3460Arg)
c.10080T>A (p.Ser3360Arg)
c.7344T>A (p.Ser2448Arg)
c.6237T>A (p.Ser2079Arg)
c.10263T>A (p.Ser3421Arg)
c.6015T>A (p.Ser2005Arg)
c.9243T>A (p.Ser3081Arg)
8g.99853772T>CCA462458173VPS13Bc.10458T>C (p.Ser3486=)
n.10528T>C
c.*6140T>C (n.*6140T>C)
c.10383T>C (p.Ser3461=)
c.10455T>C (p.Ser3485=)
c.10380T>C (p.Ser3460=)
c.10080T>C (p.Ser3360=)
c.7344T>C (p.Ser2448=)
c.6237T>C (p.Ser2079=)
c.10263T>C (p.Ser3421=)
c.6015T>C (p.Ser2005=)
c.9243T>C (p.Ser3081=)
8g.99853772T>GCA371782625VPS13Bc.10458T>G (p.Ser3486Arg)
n.10528T>G
c.*6140T>G (n.*6140T>G)
c.10383T>G (p.Ser3461Arg)
c.10455T>G (p.Ser3485Arg)
c.10380T>G (p.Ser3460Arg)
c.10080T>G (p.Ser3360Arg)
c.7344T>G (p.Ser2448Arg)
c.6237T>G (p.Ser2079Arg)
c.10263T>G (p.Ser3421Arg)
c.6015T>G (p.Ser2005Arg)
c.9243T>G (p.Ser3081Arg)
8g.99853773C>ACA371782628VPS13Bc.10459C>A (p.Leu3487Ile)
n.10529C>A
c.*6141C>A (n.*6141C>A)
c.10384C>A (p.Leu3462Ile)
c.10456C>A (p.Leu3486Ile)
c.10381C>A (p.Leu3461Ile)
c.10081C>A (p.Leu3361Ile)
c.7345C>A (p.Leu2449Ile)
c.6238C>A (p.Leu2080Ile)
c.10264C>A (p.Leu3422Ile)
c.6016C>A (p.Leu2006Ile)
c.9244C>A (p.Leu3082Ile)
8g.99853773C>GCA4824940VPS13Bc.10459C>G (p.Leu3487Val)
n.10529C>G
c.*6141C>G (n.*6141C>G)
c.10384C>G (p.Leu3462Val)
c.10456C>G (p.Leu3486Val)
c.10381C>G (p.Leu3461Val)
c.10081C>G (p.Leu3361Val)
c.7345C>G (p.Leu2449Val)
c.6238C>G (p.Leu2080Val)
c.10264C>G (p.Leu3422Val)
c.6016C>G (p.Leu2006Val)
c.9244C>G (p.Leu3082Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99853773C>TCA10628543VPS13Bc.10459C>T (p.Leu3487Phe)
n.10529C>T
c.*6141C>T (n.*6141C>T)
c.10384C>T (p.Leu3462Phe)
c.10456C>T (p.Leu3486Phe)
c.10381C>T (p.Leu3461Phe)
c.10081C>T (p.Leu3361Phe)
c.7345C>T (p.Leu2449Phe)
c.6238C>T (p.Leu2080Phe)
c.10264C>T (p.Leu3422Phe)
c.6016C>T (p.Leu2006Phe)
c.9244C>T (p.Leu3082Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99853774T>ACA371782638VPS13Bc.10460T>A (p.Leu3487His)
n.10530T>A
c.*6142T>A (n.*6142T>A)
c.10385T>A (p.Leu3462His)
c.10457T>A (p.Leu3486His)
c.10382T>A (p.Leu3461His)
c.10082T>A (p.Leu3361His)
c.7346T>A (p.Leu2449His)
c.6239T>A (p.Leu2080His)
c.10265T>A (p.Leu3422His)
c.6017T>A (p.Leu2006His)
c.9245T>A (p.Leu3082His)
8g.99853774T>CCA371782640VPS13Bc.10460T>C (p.Leu3487Pro)
n.10530T>C
c.*6142T>C (n.*6142T>C)
c.10385T>C (p.Leu3462Pro)
c.10457T>C (p.Leu3486Pro)
c.10382T>C (p.Leu3461Pro)
c.10082T>C (p.Leu3361Pro)
c.7346T>C (p.Leu2449Pro)
c.6239T>C (p.Leu2080Pro)
c.10265T>C (p.Leu3422Pro)
c.6017T>C (p.Leu2006Pro)
c.9245T>C (p.Leu3082Pro)
8g.99853774T>GCA371782642VPS13Bc.10460T>G (p.Leu3487Arg)
n.10530T>G
c.*6142T>G (n.*6142T>G)
c.10385T>G (p.Leu3462Arg)
c.10457T>G (p.Leu3486Arg)
c.10382T>G (p.Leu3461Arg)
c.10082T>G (p.Leu3361Arg)
c.7346T>G (p.Leu2449Arg)
c.6239T>G (p.Leu2080Arg)
c.10265T>G (p.Leu3422Arg)
c.6017T>G (p.Leu2006Arg)
c.9245T>G (p.Leu3082Arg)
8g.99853775C>ACA462458174VPS13Bc.10461C>A (p.Leu3487=)
n.10531C>A
c.*6143C>A (n.*6143C>A)
c.10386C>A (p.Leu3462=)
c.10458C>A (p.Leu3486=)
c.10383C>A (p.Leu3461=)
c.10083C>A (p.Leu3361=)
c.7347C>A (p.Leu2449=)
c.6240C>A (p.Leu2080=)
c.10266C>A (p.Leu3422=)
c.6018C>A (p.Leu2006=)
c.9246C>A (p.Leu3082=)
8g.99853775C>GCA462458175VPS13Bc.10461C>G (p.Leu3487=)
n.10531C>G
c.*6143C>G (n.*6143C>G)
c.10386C>G (p.Leu3462=)
c.10458C>G (p.Leu3486=)
c.10383C>G (p.Leu3461=)
c.10083C>G (p.Leu3361=)
c.7347C>G (p.Leu2449=)
c.6240C>G (p.Leu2080=)
c.10266C>G (p.Leu3422=)
c.6018C>G (p.Leu2006=)
c.9246C>G (p.Leu3082=)
 ClinVar
8g.99853775C>TCA462458176VPS13Bc.10461C>T (p.Leu3487=)
n.10531C>T
c.*6143C>T (n.*6143C>T)
c.10386C>T (p.Leu3462=)
c.10458C>T (p.Leu3486=)
c.10383C>T (p.Leu3461=)
c.10083C>T (p.Leu3361=)
c.7347C>T (p.Leu2449=)
c.6240C>T (p.Leu2080=)
c.10266C>T (p.Leu3422=)
c.6018C>T (p.Leu2006=)
c.9246C>T (p.Leu3082=)
8g.99853776C>ACA371782643VPS13Bc.10462C>A (p.Leu3488Ile)
n.10532C>A
c.*6144C>A (n.*6144C>A)
c.10387C>A (p.Leu3463Ile)
c.10459C>A (p.Leu3487Ile)
c.10384C>A (p.Leu3462Ile)
c.10084C>A (p.Leu3362Ile)
c.7348C>A (p.Leu2450Ile)
c.6241C>A (p.Leu2081Ile)
c.10267C>A (p.Leu3423Ile)
c.6019C>A (p.Leu2007Ile)
c.9247C>A (p.Leu3083Ile)
8g.99853776C>GCA371782644VPS13Bc.10462C>G (p.Leu3488Val)
n.10532C>G
c.*6144C>G (n.*6144C>G)
c.10387C>G (p.Leu3463Val)
c.10459C>G (p.Leu3487Val)
c.10384C>G (p.Leu3462Val)
c.10084C>G (p.Leu3362Val)
c.7348C>G (p.Leu2450Val)
c.6241C>G (p.Leu2081Val)
c.10267C>G (p.Leu3423Val)
c.6019C>G (p.Leu2007Val)
c.9247C>G (p.Leu3083Val)
8g.99853776C>TCA4824941VPS13Bc.10462C>T (p.Leu3488Phe)
n.10532C>T
c.*6144C>T (n.*6144C>T)
c.10387C>T (p.Leu3463Phe)
c.10459C>T (p.Leu3487Phe)
c.10384C>T (p.Leu3462Phe)
c.10084C>T (p.Leu3362Phe)
c.7348C>T (p.Leu2450Phe)
c.6241C>T (p.Leu2081Phe)
c.10267C>T (p.Leu3423Phe)
c.6019C>T (p.Leu2007Phe)
c.9247C>T (p.Leu3083Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99853777T>ACA371782645VPS13Bc.10463T>A (p.Leu3488His)
n.10533T>A
c.*6145T>A (n.*6145T>A)
c.10388T>A (p.Leu3463His)
c.10460T>A (p.Leu3487His)
c.10385T>A (p.Leu3462His)
c.10085T>A (p.Leu3362His)
c.7349T>A (p.Leu2450His)
c.6242T>A (p.Leu2081His)
c.10268T>A (p.Leu3423His)
c.6020T>A (p.Leu2007His)
c.9248T>A (p.Leu3083His)
8g.99853777T>CCA371782646VPS13Bc.10463T>C (p.Leu3488Pro)
n.10533T>C
c.*6145T>C (n.*6145T>C)
c.10388T>C (p.Leu3463Pro)
c.10460T>C (p.Leu3487Pro)
c.10385T>C (p.Leu3462Pro)
c.10085T>C (p.Leu3362Pro)
c.7349T>C (p.Leu2450Pro)
c.6242T>C (p.Leu2081Pro)
c.10268T>C (p.Leu3423Pro)
c.6020T>C (p.Leu2007Pro)
c.9248T>C (p.Leu3083Pro)
8g.99853777T>GCA371782647VPS13Bc.10463T>G (p.Leu3488Arg)
n.10533T>G
c.*6145T>G (n.*6145T>G)
c.10388T>G (p.Leu3463Arg)
c.10460T>G (p.Leu3487Arg)
c.10385T>G (p.Leu3462Arg)
c.10085T>G (p.Leu3362Arg)
c.7349T>G (p.Leu2450Arg)
c.6242T>G (p.Leu2081Arg)
c.10268T>G (p.Leu3423Arg)
c.6020T>G (p.Leu2007Arg)
c.9248T>G (p.Leu3083Arg)
8g.99853778C>ACA462458178VPS13Bc.10464C>A (p.Leu3488=)
n.10534C>A
c.*6146C>A (n.*6146C>A)
c.10389C>A (p.Leu3463=)
c.10461C>A (p.Leu3487=)
c.10386C>A (p.Leu3462=)
c.10086C>A (p.Leu3362=)
c.7350C>A (p.Leu2450=)
c.6243C>A (p.Leu2081=)
c.10269C>A (p.Leu3423=)
c.6021C>A (p.Leu2007=)
c.9249C>A (p.Leu3083=)
 ClinVar
8g.99853778C>GCA462458179VPS13Bc.10464C>G (p.Leu3488=)
n.10534C>G
c.*6146C>G (n.*6146C>G)
c.10389C>G (p.Leu3463=)
c.10461C>G (p.Leu3487=)
c.10386C>G (p.Leu3462=)
c.10086C>G (p.Leu3362=)
c.7350C>G (p.Leu2450=)
c.6243C>G (p.Leu2081=)
c.10269C>G (p.Leu3423=)
c.6021C>G (p.Leu2007=)
c.9249C>G (p.Leu3083=)
8g.99853778C>TCA462458181VPS13Bc.10464C>T (p.Leu3488=)
n.10534C>T
c.*6146C>T (n.*6146C>T)
c.10389C>T (p.Leu3463=)
c.10461C>T (p.Leu3487=)
c.10386C>T (p.Leu3462=)
c.10086C>T (p.Leu3362=)
c.7350C>T (p.Leu2450=)
c.6243C>T (p.Leu2081=)
c.10269C>T (p.Leu3423=)
c.6021C>T (p.Leu2007=)
c.9249C>T (p.Leu3083=)
 dbSNP
8g.99853779A>CCA371782649VPS13Bc.10465A>C (p.Ile3489Leu)
n.10535A>C
c.*6147A>C (n.*6147A>C)
c.10390A>C (p.Ile3464Leu)
c.10462A>C (p.Ile3488Leu)
c.10387A>C (p.Ile3463Leu)
c.10087A>C (p.Ile3363Leu)
c.7351A>C (p.Ile2451Leu)
c.6244A>C (p.Ile2082Leu)
c.10270A>C (p.Ile3424Leu)
c.6022A>C (p.Ile2008Leu)
c.9250A>C (p.Ile3084Leu)
8g.99853779A>GCA371782651VPS13Bc.10465A>G (p.Ile3489Val)
n.10535A>G
c.*6147A>G (n.*6147A>G)
c.10390A>G (p.Ile3464Val)
c.10462A>G (p.Ile3488Val)
c.10387A>G (p.Ile3463Val)
c.10087A>G (p.Ile3363Val)
c.7351A>G (p.Ile2451Val)
c.6244A>G (p.Ile2082Val)
c.10270A>G (p.Ile3424Val)
c.6022A>G (p.Ile2008Val)
c.9250A>G (p.Ile3084Val)
 gnomAD v4
8g.99853779A>TCA371782653VPS13Bc.10465A>T (p.Ile3489Leu)
n.10535A>T
c.*6147A>T (n.*6147A>T)
c.10390A>T (p.Ile3464Leu)
c.10462A>T (p.Ile3488Leu)
c.10387A>T (p.Ile3463Leu)
c.10087A>T (p.Ile3363Leu)
c.7351A>T (p.Ile2451Leu)
c.6244A>T (p.Ile2082Leu)
c.10270A>T (p.Ile3424Leu)
c.6022A>T (p.Ile2008Leu)
c.9250A>T (p.Ile3084Leu)
8g.99853780T>ACA371782656VPS13Bc.10466T>A (p.Ile3489Lys)
n.10536T>A
c.*6148T>A (n.*6148T>A)
c.10391T>A (p.Ile3464Lys)
c.10463T>A (p.Ile3488Lys)
c.10388T>A (p.Ile3463Lys)
c.10088T>A (p.Ile3363Lys)
c.7352T>A (p.Ile2451Lys)
c.6245T>A (p.Ile2082Lys)
c.10271T>A (p.Ile3424Lys)
c.6023T>A (p.Ile2008Lys)
c.9251T>A (p.Ile3084Lys)
8g.99853780T>CCA371782661VPS13Bc.10466T>C (p.Ile3489Thr)
n.10536T>C
c.*6148T>C (n.*6148T>C)
c.10391T>C (p.Ile3464Thr)
c.10463T>C (p.Ile3488Thr)
c.10388T>C (p.Ile3463Thr)
c.10088T>C (p.Ile3363Thr)
c.7352T>C (p.Ile2451Thr)
c.6245T>C (p.Ile2082Thr)
c.10271T>C (p.Ile3424Thr)
c.6023T>C (p.Ile2008Thr)
c.9251T>C (p.Ile3084Thr)
 gnomAD v4
8g.99853780T>GCA371782658VPS13Bc.10466T>G (p.Ile3489Arg)
n.10536T>G
c.*6148T>G (n.*6148T>G)
c.10391T>G (p.Ile3464Arg)
c.10463T>G (p.Ile3488Arg)
c.10388T>G (p.Ile3463Arg)
c.10088T>G (p.Ile3363Arg)
c.7352T>G (p.Ile2451Arg)
c.6245T>G (p.Ile2082Arg)
c.10271T>G (p.Ile3424Arg)
c.6023T>G (p.Ile2008Arg)
c.9251T>G (p.Ile3084Arg)
8g.99853781A>CCA462458182VPS13Bc.10467A>C (p.Ile3489=)
n.10537A>C
c.*6149A>C (n.*6149A>C)
c.10392A>C (p.Ile3464=)
c.10464A>C (p.Ile3488=)
c.10389A>C (p.Ile3463=)
c.10089A>C (p.Ile3363=)
c.7353A>C (p.Ile2451=)
c.6246A>C (p.Ile2082=)
c.10272A>C (p.Ile3424=)
c.6024A>C (p.Ile2008=)
c.9252A>C (p.Ile3084=)
8g.99853781A>GCA371782662VPS13Bc.10467A>G (p.Ile3489Met)
n.10537A>G
c.*6149A>G (n.*6149A>G)
c.10392A>G (p.Ile3464Met)
c.10464A>G (p.Ile3488Met)
c.10389A>G (p.Ile3463Met)
c.10089A>G (p.Ile3363Met)
c.7353A>G (p.Ile2451Met)
c.6246A>G (p.Ile2082Met)
c.10272A>G (p.Ile3424Met)
c.6024A>G (p.Ile2008Met)
c.9252A>G (p.Ile3084Met)
 gnomAD v4
8g.99853781A>TCA462458183VPS13Bc.10467A>T (p.Ile3489=)
n.10537A>T
c.*6149A>T (n.*6149A>T)
c.10392A>T (p.Ile3464=)
c.10464A>T (p.Ile3488=)
c.10389A>T (p.Ile3463=)
c.10089A>T (p.Ile3363=)
c.7353A>T (p.Ile2451=)
c.6246A>T (p.Ile2082=)
c.10272A>T (p.Ile3424=)
c.6024A>T (p.Ile2008=)
c.9252A>T (p.Ile3084=)
8g.99853782T>ACA371782663VPS13Bc.10468T>A (p.Ser3490Thr)
n.10538T>A
c.*6150T>A (n.*6150T>A)
c.10393T>A (p.Ser3465Thr)
c.10465T>A (p.Ser3489Thr)
c.10390T>A (p.Ser3464Thr)
c.10090T>A (p.Ser3364Thr)
c.7354T>A (p.Ser2452Thr)
c.6247T>A (p.Ser2083Thr)
c.10273T>A (p.Ser3425Thr)
c.6025T>A (p.Ser2009Thr)
c.9253T>A (p.Ser3085Thr)
8g.99853782T>CCA371782664VPS13Bc.10468T>C (p.Ser3490Pro)
n.10538T>C
c.*6150T>C (n.*6150T>C)
c.10393T>C (p.Ser3465Pro)
c.10465T>C (p.Ser3489Pro)
c.10390T>C (p.Ser3464Pro)
c.10090T>C (p.Ser3364Pro)
c.7354T>C (p.Ser2452Pro)
c.6247T>C (p.Ser2083Pro)
c.10273T>C (p.Ser3425Pro)
c.6025T>C (p.Ser2009Pro)
c.9253T>C (p.Ser3085Pro)
 gnomAD v4
8g.99853782T>GCA371782666VPS13Bc.10468T>G (p.Ser3490Ala)
n.10538T>G
c.*6150T>G (n.*6150T>G)
c.10393T>G (p.Ser3465Ala)
c.10465T>G (p.Ser3489Ala)
c.10390T>G (p.Ser3464Ala)
c.10090T>G (p.Ser3364Ala)
c.7354T>G (p.Ser2452Ala)
c.6247T>G (p.Ser2083Ala)
c.10273T>G (p.Ser3425Ala)
c.6025T>G (p.Ser2009Ala)
c.9253T>G (p.Ser3085Ala)
8g.99853783C>ACA371782669VPS13Bc.10469C>A (p.Ser3490Tyr)
n.10539C>A
c.*6151C>A (n.*6151C>A)
c.10394C>A (p.Ser3465Tyr)
c.10466C>A (p.Ser3489Tyr)
c.10391C>A (p.Ser3464Tyr)
c.10091C>A (p.Ser3364Tyr)
c.7355C>A (p.Ser2452Tyr)
c.6248C>A (p.Ser2083Tyr)
c.10274C>A (p.Ser3425Tyr)
c.6026C>A (p.Ser2009Tyr)
c.9254C>A (p.Ser3085Tyr)
8g.99853783C>GCA371782671VPS13Bc.10469C>G (p.Ser3490Cys)
n.10539C>G
c.*6151C>G (n.*6151C>G)
c.10394C>G (p.Ser3465Cys)
c.10466C>G (p.Ser3489Cys)
c.10391C>G (p.Ser3464Cys)
c.10091C>G (p.Ser3364Cys)
c.7355C>G (p.Ser2452Cys)
c.6248C>G (p.Ser2083Cys)
c.10274C>G (p.Ser3425Cys)
c.6026C>G (p.Ser2009Cys)
c.9254C>G (p.Ser3085Cys)
8g.99853783C>TCA371782674VPS13Bc.10469C>T (p.Ser3490Phe)
n.10539C>T
c.*6151C>T (n.*6151C>T)
c.10394C>T (p.Ser3465Phe)
c.10466C>T (p.Ser3489Phe)
c.10391C>T (p.Ser3464Phe)
c.10091C>T (p.Ser3364Phe)
c.7355C>T (p.Ser2452Phe)
c.6248C>T (p.Ser2083Phe)
c.10274C>T (p.Ser3425Phe)
c.6026C>T (p.Ser2009Phe)
c.9254C>T (p.Ser3085Phe)
 gnomAD v4
8g.99853784C>ACA462458186VPS13Bc.10470C>A (p.Ser3490=)
n.10540C>A
c.*6152C>A (n.*6152C>A)
c.10395C>A (p.Ser3465=)
c.10467C>A (p.Ser3489=)
c.10392C>A (p.Ser3464=)
c.10092C>A (p.Ser3364=)
c.7356C>A (p.Ser2452=)
c.6249C>A (p.Ser2083=)
c.10275C>A (p.Ser3425=)
c.6027C>A (p.Ser2009=)
c.9255C>A (p.Ser3085=)
8g.99853784C>GCA462458187VPS13Bc.10470C>G (p.Ser3490=)
n.10540C>G
c.*6152C>G (n.*6152C>G)
c.10395C>G (p.Ser3465=)
c.10467C>G (p.Ser3489=)
c.10392C>G (p.Ser3464=)
c.10092C>G (p.Ser3364=)
c.7356C>G (p.Ser2452=)
c.6249C>G (p.Ser2083=)
c.10275C>G (p.Ser3425=)
c.6027C>G (p.Ser2009=)
c.9255C>G (p.Ser3085=)
8g.99853784C>TCA462458188VPS13Bc.10470C>T (p.Ser3490=)
n.10540C>T
c.*6152C>T (n.*6152C>T)
c.10395C>T (p.Ser3465=)
c.10467C>T (p.Ser3489=)
c.10392C>T (p.Ser3464=)
c.10092C>T (p.Ser3364=)
c.7356C>T (p.Ser2452=)
c.6249C>T (p.Ser2083=)
c.10275C>T (p.Ser3425=)
c.6027C>T (p.Ser2009=)
c.9255C>T (p.Ser3085=)
8g.99853785A>CCA371782677VPS13Bc.10471A>C (p.Asn3491His)
n.10541A>C
c.*6153A>C (n.*6153A>C)
c.10396A>C (p.Asn3466His)
c.10468A>C (p.Asn3490His)
c.10393A>C (p.Asn3465His)
c.10093A>C (p.Asn3365His)
c.7357A>C (p.Asn2453His)
c.6250A>C (p.Asn2084His)
c.10276A>C (p.Asn3426His)
c.6028A>C (p.Asn2010His)
c.9256A>C (p.Asn3086His)
8g.99853785A>GCA371782679VPS13Bc.10471A>G (p.Asn3491Asp)
n.10541A>G
c.*6153A>G (n.*6153A>G)
c.10396A>G (p.Asn3466Asp)
c.10468A>G (p.Asn3490Asp)
c.10393A>G (p.Asn3465Asp)
c.10093A>G (p.Asn3365Asp)
c.7357A>G (p.Asn2453Asp)
c.6250A>G (p.Asn2084Asp)
c.10276A>G (p.Asn3426Asp)
c.6028A>G (p.Asn2010Asp)
c.9256A>G (p.Asn3086Asp)
 gnomAD v4
8g.99853785A>TCA371782681VPS13Bc.10471A>T (p.Asn3491Tyr)
n.10541A>T
c.*6153A>T (n.*6153A>T)
c.10396A>T (p.Asn3466Tyr)
c.10468A>T (p.Asn3490Tyr)
c.10393A>T (p.Asn3465Tyr)
c.10093A>T (p.Asn3365Tyr)
c.7357A>T (p.Asn2453Tyr)
c.6250A>T (p.Asn2084Tyr)
c.10276A>T (p.Asn3426Tyr)
c.6028A>T (p.Asn2010Tyr)
c.9256A>T (p.Asn3086Tyr)
8g.99853786A>CCA371782685VPS13Bc.10472A>C (p.Asn3491Thr)
n.10542A>C
c.*6154A>C (n.*6154A>C)
c.10397A>C (p.Asn3466Thr)
c.10469A>C (p.Asn3490Thr)
c.10394A>C (p.Asn3465Thr)
c.10094A>C (p.Asn3365Thr)
c.7358A>C (p.Asn2453Thr)
c.6251A>C (p.Asn2084Thr)
c.10277A>C (p.Asn3426Thr)
c.6029A>C (p.Asn2010Thr)
c.9257A>C (p.Asn3086Thr)
8g.99853786A>GCA371782688VPS13Bc.10472A>G (p.Asn3491Ser)
n.10542A>G
c.*6154A>G (n.*6154A>G)
c.10397A>G (p.Asn3466Ser)
c.10469A>G (p.Asn3490Ser)
c.10394A>G (p.Asn3465Ser)
c.10094A>G (p.Asn3365Ser)
c.7358A>G (p.Asn2453Ser)
c.6251A>G (p.Asn2084Ser)
c.10277A>G (p.Asn3426Ser)
c.6029A>G (p.Asn2010Ser)
c.9257A>G (p.Asn3086Ser)
 gnomAD v4
8g.99853786A>TCA371782690VPS13Bc.10472A>T (p.Asn3491Ile)
n.10542A>T
c.*6154A>T (n.*6154A>T)
c.10397A>T (p.Asn3466Ile)
c.10469A>T (p.Asn3490Ile)
c.10394A>T (p.Asn3465Ile)
c.10094A>T (p.Asn3365Ile)
c.7358A>T (p.Asn2453Ile)
c.6251A>T (p.Asn2084Ile)
c.10277A>T (p.Asn3426Ile)
c.6029A>T (p.Asn2010Ile)
c.9257A>T (p.Asn3086Ile)

Number of alleles fetched