Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99835301T>ACA371782811VPS13Bc.9794T>A (p.Met3265Lys)
n.9864T>A
c.*5476T>A (n.*5476T>A)
c.9719T>A (p.Met3240Lys)
c.9791T>A (p.Met3264Lys)
c.9716T>A (p.Met3239Lys)
c.9416T>A (p.Met3139Lys)
c.6680T>A (p.Met2227Lys)
c.5573T>A (p.Met1858Lys)
c.9599T>A (p.Met3200Lys)
c.5351T>A (p.Met1784Lys)
c.8579T>A (p.Met2860Lys)
8g.99835301T>CCA371782815VPS13Bc.9794T>C (p.Met3265Thr)
n.9864T>C
c.*5476T>C (n.*5476T>C)
c.9719T>C (p.Met3240Thr)
c.9791T>C (p.Met3264Thr)
c.9716T>C (p.Met3239Thr)
c.9416T>C (p.Met3139Thr)
c.6680T>C (p.Met2227Thr)
c.5573T>C (p.Met1858Thr)
c.9599T>C (p.Met3200Thr)
c.5351T>C (p.Met1784Thr)
c.8579T>C (p.Met2860Thr)
8g.99835301T>GCA371782817VPS13Bc.9794T>G (p.Met3265Arg)
n.9864T>G
c.*5476T>G (n.*5476T>G)
c.9719T>G (p.Met3240Arg)
c.9791T>G (p.Met3264Arg)
c.9716T>G (p.Met3239Arg)
c.9416T>G (p.Met3139Arg)
c.6680T>G (p.Met2227Arg)
c.5573T>G (p.Met1858Arg)
c.9599T>G (p.Met3200Arg)
c.5351T>G (p.Met1784Arg)
c.8579T>G (p.Met2860Arg)
8g.99835302G>ACA371782819VPS13Bc.9795G>A (p.Met3265Ile)
n.9865G>A
c.*5477G>A (n.*5477G>A)
c.9720G>A (p.Met3240Ile)
c.9792G>A (p.Met3264Ile)
c.9717G>A (p.Met3239Ile)
c.9417G>A (p.Met3139Ile)
c.6681G>A (p.Met2227Ile)
c.5574G>A (p.Met1858Ile)
c.9600G>A (p.Met3200Ile)
c.5352G>A (p.Met1784Ile)
c.8580G>A (p.Met2860Ile)
 gnomAD v4
8g.99835302G>CCA371782824VPS13Bc.9795G>C (p.Met3265Ile)
n.9865G>C
c.*5477G>C (n.*5477G>C)
c.9720G>C (p.Met3240Ile)
c.9792G>C (p.Met3264Ile)
c.9717G>C (p.Met3239Ile)
c.9417G>C (p.Met3139Ile)
c.6681G>C (p.Met2227Ile)
c.5574G>C (p.Met1858Ile)
c.9600G>C (p.Met3200Ile)
c.5352G>C (p.Met1784Ile)
c.8580G>C (p.Met2860Ile)
8g.99835302G>TCA371782826VPS13Bc.9795G>T (p.Met3265Ile)
n.9865G>T
c.*5477G>T (n.*5477G>T)
c.9720G>T (p.Met3240Ile)
c.9792G>T (p.Met3264Ile)
c.9717G>T (p.Met3239Ile)
c.9417G>T (p.Met3139Ile)
c.6681G>T (p.Met2227Ile)
c.5574G>T (p.Met1858Ile)
c.9600G>T (p.Met3200Ile)
c.5352G>T (p.Met1784Ile)
c.8580G>T (p.Met2860Ile)
8g.99835303C>ACA371782839VPS13Bc.9796C>A (p.Leu3266Ile)
n.9866C>A
c.*5478C>A (n.*5478C>A)
c.9721C>A (p.Leu3241Ile)
c.9793C>A (p.Leu3265Ile)
c.9718C>A (p.Leu3240Ile)
c.9418C>A (p.Leu3140Ile)
c.6682C>A (p.Leu2228Ile)
c.5575C>A (p.Leu1859Ile)
c.9601C>A (p.Leu3201Ile)
c.5353C>A (p.Leu1785Ile)
c.8581C>A (p.Leu2861Ile)
8g.99835303C>GCA371782829VPS13Bc.9796C>G (p.Leu3266Val)
n.9866C>G
c.*5478C>G (n.*5478C>G)
c.9721C>G (p.Leu3241Val)
c.9793C>G (p.Leu3265Val)
c.9718C>G (p.Leu3240Val)
c.9418C>G (p.Leu3140Val)
c.6682C>G (p.Leu2228Val)
c.5575C>G (p.Leu1859Val)
c.9601C>G (p.Leu3201Val)
c.5353C>G (p.Leu1785Val)
c.8581C>G (p.Leu2861Val)
8g.99835303C>TCA371782837VPS13Bc.9796C>T (p.Leu3266Phe)
n.9866C>T
c.*5478C>T (n.*5478C>T)
c.9721C>T (p.Leu3241Phe)
c.9793C>T (p.Leu3265Phe)
c.9718C>T (p.Leu3240Phe)
c.9418C>T (p.Leu3140Phe)
c.6682C>T (p.Leu2228Phe)
c.5575C>T (p.Leu1859Phe)
c.9601C>T (p.Leu3201Phe)
c.5353C>T (p.Leu1785Phe)
c.8581C>T (p.Leu2861Phe)
8g.99835304T>ACA371782841VPS13Bc.9797T>A (p.Leu3266His)
n.9867T>A
c.*5479T>A (n.*5479T>A)
c.9722T>A (p.Leu3241His)
c.9794T>A (p.Leu3265His)
c.9719T>A (p.Leu3240His)
c.9419T>A (p.Leu3140His)
c.6683T>A (p.Leu2228His)
c.5576T>A (p.Leu1859His)
c.9602T>A (p.Leu3201His)
c.5354T>A (p.Leu1785His)
c.8582T>A (p.Leu2861His)
8g.99835304T>CCA371782845VPS13Bc.9797T>C (p.Leu3266Pro)
n.9867T>C
c.*5479T>C (n.*5479T>C)
c.9722T>C (p.Leu3241Pro)
c.9794T>C (p.Leu3265Pro)
c.9719T>C (p.Leu3240Pro)
c.9419T>C (p.Leu3140Pro)
c.6683T>C (p.Leu2228Pro)
c.5576T>C (p.Leu1859Pro)
c.9602T>C (p.Leu3201Pro)
c.5354T>C (p.Leu1785Pro)
c.8582T>C (p.Leu2861Pro)
8g.99835304T>GCA371782847VPS13Bc.9797T>G (p.Leu3266Arg)
n.9867T>G
c.*5479T>G (n.*5479T>G)
c.9722T>G (p.Leu3241Arg)
c.9794T>G (p.Leu3265Arg)
c.9719T>G (p.Leu3240Arg)
c.9419T>G (p.Leu3140Arg)
c.6683T>G (p.Leu2228Arg)
c.5576T>G (p.Leu1859Arg)
c.9602T>G (p.Leu3201Arg)
c.5354T>G (p.Leu1785Arg)
c.8582T>G (p.Leu2861Arg)
8g.99835305delCA2781480439VPS13Bc.9798del (p.Ile3267Ter)
n.9868del
c.*5480del (n.*5480del)
c.9723del (p.Ile3242Ter)
c.9795del (p.Ile3266Ter)
c.9720del (p.Ile3241Ter)
c.9420del (p.Ile3141Ter)
c.6684del (p.Ile2229Ter)
c.5577del (p.Ile1860Ter)
c.9603del (p.Ile3202Ter)
c.5355del (p.Ile1786Ter)
c.8583del (p.Ile2862Ter)
8g.99835305T>ACA462340647VPS13Bc.9798T>A (p.Leu3266=)
n.9868T>A
c.*5480T>A (n.*5480T>A)
c.9723T>A (p.Leu3241=)
c.9795T>A (p.Leu3265=)
c.9720T>A (p.Leu3240=)
c.9420T>A (p.Leu3140=)
c.6684T>A (p.Leu2228=)
c.5577T>A (p.Leu1859=)
c.9603T>A (p.Leu3201=)
c.5355T>A (p.Leu1785=)
c.8583T>A (p.Leu2861=)
8g.99835305T>CCA462340649VPS13Bc.9798T>C (p.Leu3266=)
n.9868T>C
c.*5480T>C (n.*5480T>C)
c.9723T>C (p.Leu3241=)
c.9795T>C (p.Leu3265=)
c.9720T>C (p.Leu3240=)
c.9420T>C (p.Leu3140=)
c.6684T>C (p.Leu2228=)
c.5577T>C (p.Leu1859=)
c.9603T>C (p.Leu3201=)
c.5355T>C (p.Leu1785=)
c.8583T>C (p.Leu2861=)
 ClinVar
8g.99835305T>GCA462340648VPS13Bc.9798T>G (p.Leu3266=)
n.9868T>G
c.*5480T>G (n.*5480T>G)
c.9723T>G (p.Leu3241=)
c.9795T>G (p.Leu3265=)
c.9720T>G (p.Leu3240=)
c.9420T>G (p.Leu3140=)
c.6684T>G (p.Leu2228=)
c.5577T>G (p.Leu1859=)
c.9603T>G (p.Leu3201=)
c.5355T>G (p.Leu1785=)
c.8583T>G (p.Leu2861=)
8g.99835306A>CCA371782850VPS13Bc.9799A>C (p.Ile3267Leu)
n.9869A>C
c.*5481A>C (n.*5481A>C)
c.9724A>C (p.Ile3242Leu)
c.9796A>C (p.Ile3266Leu)
c.9721A>C (p.Ile3241Leu)
c.9421A>C (p.Ile3141Leu)
c.6685A>C (p.Ile2229Leu)
c.5578A>C (p.Ile1860Leu)
c.9604A>C (p.Ile3202Leu)
c.5356A>C (p.Ile1786Leu)
c.8584A>C (p.Ile2862Leu)
 dbSNP
8g.99835306A>GCA371782852VPS13Bc.9799A>G (p.Ile3267Val)
n.9869A>G
c.*5481A>G (n.*5481A>G)
c.9724A>G (p.Ile3242Val)
c.9796A>G (p.Ile3266Val)
c.9721A>G (p.Ile3241Val)
c.9421A>G (p.Ile3141Val)
c.6685A>G (p.Ile2229Val)
c.5578A>G (p.Ile1860Val)
c.9604A>G (p.Ile3202Val)
c.5356A>G (p.Ile1786Val)
c.8584A>G (p.Ile2862Val)
 gnomAD v4
8g.99835306A>TCA371782855VPS13Bc.9799A>T (p.Ile3267Leu)
n.9869A>T
c.*5481A>T (n.*5481A>T)
c.9724A>T (p.Ile3242Leu)
c.9796A>T (p.Ile3266Leu)
c.9721A>T (p.Ile3241Leu)
c.9421A>T (p.Ile3141Leu)
c.6685A>T (p.Ile2229Leu)
c.5578A>T (p.Ile1860Leu)
c.9604A>T (p.Ile3202Leu)
c.5356A>T (p.Ile1786Leu)
c.8584A>T (p.Ile2862Leu)
8g.99835307T>ACA371782859VPS13Bc.9800T>A (p.Ile3267Lys)
n.9870T>A
c.*5482T>A (n.*5482T>A)
c.9725T>A (p.Ile3242Lys)
c.9797T>A (p.Ile3266Lys)
c.9722T>A (p.Ile3241Lys)
c.9422T>A (p.Ile3141Lys)
c.6686T>A (p.Ile2229Lys)
c.5579T>A (p.Ile1860Lys)
c.9605T>A (p.Ile3202Lys)
c.5357T>A (p.Ile1786Lys)
c.8585T>A (p.Ile2862Lys)
8g.99835307T>CCA371782862VPS13Bc.9800T>C (p.Ile3267Thr)
n.9870T>C
c.*5482T>C (n.*5482T>C)
c.9725T>C (p.Ile3242Thr)
c.9797T>C (p.Ile3266Thr)
c.9722T>C (p.Ile3241Thr)
c.9422T>C (p.Ile3141Thr)
c.6686T>C (p.Ile2229Thr)
c.5579T>C (p.Ile1860Thr)
c.9605T>C (p.Ile3202Thr)
c.5357T>C (p.Ile1786Thr)
c.8585T>C (p.Ile2862Thr)
 gnomAD v4
8g.99835307T>GCA371782865VPS13Bc.9800T>G (p.Ile3267Arg)
n.9870T>G
c.*5482T>G (n.*5482T>G)
c.9725T>G (p.Ile3242Arg)
c.9797T>G (p.Ile3266Arg)
c.9722T>G (p.Ile3241Arg)
c.9422T>G (p.Ile3141Arg)
c.6686T>G (p.Ile2229Arg)
c.5579T>G (p.Ile1860Arg)
c.9605T>G (p.Ile3202Arg)
c.5357T>G (p.Ile1786Arg)
c.8585T>G (p.Ile2862Arg)
8g.99835308A>CCA462340652VPS13Bc.9801A>C (p.Ile3267=)
n.9871A>C
c.*5483A>C (n.*5483A>C)
c.9726A>C (p.Ile3242=)
c.9798A>C (p.Ile3266=)
c.9723A>C (p.Ile3241=)
c.9423A>C (p.Ile3141=)
c.6687A>C (p.Ile2229=)
c.5580A>C (p.Ile1860=)
c.9606A>C (p.Ile3202=)
c.5358A>C (p.Ile1786=)
c.8586A>C (p.Ile2862=)
8g.99835308A>GCA371782866VPS13Bc.9801A>G (p.Ile3267Met)
n.9871A>G
c.*5483A>G (n.*5483A>G)
c.9726A>G (p.Ile3242Met)
c.9798A>G (p.Ile3266Met)
c.9723A>G (p.Ile3241Met)
c.9423A>G (p.Ile3141Met)
c.6687A>G (p.Ile2229Met)
c.5580A>G (p.Ile1860Met)
c.9606A>G (p.Ile3202Met)
c.5358A>G (p.Ile1786Met)
c.8586A>G (p.Ile2862Met)
8g.99835308A>TCA462340651VPS13Bc.9801A>T (p.Ile3267=)
n.9871A>T
c.*5483A>T (n.*5483A>T)
c.9726A>T (p.Ile3242=)
c.9798A>T (p.Ile3266=)
c.9723A>T (p.Ile3241=)
c.9423A>T (p.Ile3141=)
c.6687A>T (p.Ile2229=)
c.5580A>T (p.Ile1860=)
c.9606A>T (p.Ile3202=)
c.5358A>T (p.Ile1786=)
c.8586A>T (p.Ile2862=)
8g.99835309A>CCA371782876VPS13Bc.9802A>C (p.Lys3268Gln)
n.9872A>C
c.*5484A>C (n.*5484A>C)
c.9727A>C (p.Lys3243Gln)
c.9799A>C (p.Lys3267Gln)
c.9724A>C (p.Lys3242Gln)
c.9424A>C (p.Lys3142Gln)
c.6688A>C (p.Lys2230Gln)
c.5581A>C (p.Lys1861Gln)
c.9607A>C (p.Lys3203Gln)
c.5359A>C (p.Lys1787Gln)
c.8587A>C (p.Lys2863Gln)
8g.99835309A>GCA371782871VPS13Bc.9802A>G (p.Lys3268Glu)
n.9872A>G
c.*5484A>G (n.*5484A>G)
c.9727A>G (p.Lys3243Glu)
c.9799A>G (p.Lys3267Glu)
c.9724A>G (p.Lys3242Glu)
c.9424A>G (p.Lys3142Glu)
c.6688A>G (p.Lys2230Glu)
c.5581A>G (p.Lys1861Glu)
c.9607A>G (p.Lys3203Glu)
c.5359A>G (p.Lys1787Glu)
c.8587A>G (p.Lys2863Glu)
8g.99835309A>TCA371782868VPS13Bc.9802A>T (p.Lys3268Ter)
n.9872A>T
c.*5484A>T (n.*5484A>T)
c.9727A>T (p.Lys3243Ter)
c.9799A>T (p.Lys3267Ter)
c.9724A>T (p.Lys3242Ter)
c.9424A>T (p.Lys3142Ter)
c.6688A>T (p.Lys2230Ter)
c.5581A>T (p.Lys1861Ter)
c.9607A>T (p.Lys3203Ter)
c.5359A>T (p.Lys1787Ter)
c.8587A>T (p.Lys2863Ter)
8g.99835310A>CCA371782878VPS13Bc.9803A>C (p.Lys3268Thr)
n.9873A>C
c.*5485A>C (n.*5485A>C)
c.9728A>C (p.Lys3243Thr)
c.9800A>C (p.Lys3267Thr)
c.9725A>C (p.Lys3242Thr)
c.9425A>C (p.Lys3142Thr)
c.6689A>C (p.Lys2230Thr)
c.5582A>C (p.Lys1861Thr)
c.9608A>C (p.Lys3203Thr)
c.5360A>C (p.Lys1787Thr)
c.8588A>C (p.Lys2863Thr)
8g.99835310A>GCA371782880VPS13Bc.9803A>G (p.Lys3268Arg)
n.9873A>G
c.*5485A>G (n.*5485A>G)
c.9728A>G (p.Lys3243Arg)
c.9800A>G (p.Lys3267Arg)
c.9725A>G (p.Lys3242Arg)
c.9425A>G (p.Lys3142Arg)
c.6689A>G (p.Lys2230Arg)
c.5582A>G (p.Lys1861Arg)
c.9608A>G (p.Lys3203Arg)
c.5360A>G (p.Lys1787Arg)
c.8588A>G (p.Lys2863Arg)
8g.99835310A>TCA371782882VPS13Bc.9803A>T (p.Lys3268Met)
n.9873A>T
c.*5485A>T (n.*5485A>T)
c.9728A>T (p.Lys3243Met)
c.9800A>T (p.Lys3267Met)
c.9725A>T (p.Lys3242Met)
c.9425A>T (p.Lys3142Met)
c.6689A>T (p.Lys2230Met)
c.5582A>T (p.Lys1861Met)
c.9608A>T (p.Lys3203Met)
c.5360A>T (p.Lys1787Met)
c.8588A>T (p.Lys2863Met)
8g.99835311G>ACA462340653VPS13Bc.9804G>A (p.Lys3268=)
n.9874G>A
c.*5486G>A (n.*5486G>A)
c.9729G>A (p.Lys3243=)
c.9801G>A (p.Lys3267=)
c.9726G>A (p.Lys3242=)
c.9426G>A (p.Lys3142=)
c.6690G>A (p.Lys2230=)
c.5583G>A (p.Lys1861=)
c.9609G>A (p.Lys3203=)
c.5361G>A (p.Lys1787=)
c.8589G>A (p.Lys2863=)
8g.99835311G>CCA371782886VPS13Bc.9804G>C (p.Lys3268Asn)
n.9874G>C
c.*5486G>C (n.*5486G>C)
c.9729G>C (p.Lys3243Asn)
c.9801G>C (p.Lys3267Asn)
c.9726G>C (p.Lys3242Asn)
c.9426G>C (p.Lys3142Asn)
c.6690G>C (p.Lys2230Asn)
c.5583G>C (p.Lys1861Asn)
c.9609G>C (p.Lys3203Asn)
c.5361G>C (p.Lys1787Asn)
c.8589G>C (p.Lys2863Asn)
8g.99835311G>TCA371782888VPS13Bc.9804G>T (p.Lys3268Asn)
n.9874G>T
c.*5486G>T (n.*5486G>T)
c.9729G>T (p.Lys3243Asn)
c.9801G>T (p.Lys3267Asn)
c.9726G>T (p.Lys3242Asn)
c.9426G>T (p.Lys3142Asn)
c.6690G>T (p.Lys2230Asn)
c.5583G>T (p.Lys1861Asn)
c.9609G>T (p.Lys3203Asn)
c.5361G>T (p.Lys1787Asn)
c.8589G>T (p.Lys2863Asn)
8g.99835312G>ACA371782891VPS13Bc.9805G>A (p.Glu3269Lys)
n.9875G>A
c.*5487G>A (n.*5487G>A)
c.9730G>A (p.Glu3244Lys)
c.9802G>A (p.Glu3268Lys)
c.9727G>A (p.Glu3243Lys)
c.9427G>A (p.Glu3143Lys)
c.6691G>A (p.Glu2231Lys)
c.5584G>A (p.Glu1862Lys)
c.9610G>A (p.Glu3204Lys)
c.5362G>A (p.Glu1788Lys)
c.8590G>A (p.Glu2864Lys)
8g.99835312G>CCA371782893VPS13Bc.9805G>C (p.Glu3269Gln)
n.9875G>C
c.*5487G>C (n.*5487G>C)
c.9730G>C (p.Glu3244Gln)
c.9802G>C (p.Glu3268Gln)
c.9727G>C (p.Glu3243Gln)
c.9427G>C (p.Glu3143Gln)
c.6691G>C (p.Glu2231Gln)
c.5584G>C (p.Glu1862Gln)
c.9610G>C (p.Glu3204Gln)
c.5362G>C (p.Glu1788Gln)
c.8590G>C (p.Glu2864Gln)
8g.99835312G>TCA371782895VPS13Bc.9805G>T (p.Glu3269Ter)
n.9875G>T
c.*5487G>T (n.*5487G>T)
c.9730G>T (p.Glu3244Ter)
c.9802G>T (p.Glu3268Ter)
c.9727G>T (p.Glu3243Ter)
c.9427G>T (p.Glu3143Ter)
c.6691G>T (p.Glu2231Ter)
c.5584G>T (p.Glu1862Ter)
c.9610G>T (p.Glu3204Ter)
c.5362G>T (p.Glu1788Ter)
c.8590G>T (p.Glu2864Ter)
8g.99835313A>CCA371782897VPS13Bc.9806A>C (p.Glu3269Ala)
n.9876A>C
c.*5488A>C (n.*5488A>C)
c.9731A>C (p.Glu3244Ala)
c.9803A>C (p.Glu3268Ala)
c.9728A>C (p.Glu3243Ala)
c.9428A>C (p.Glu3143Ala)
c.6692A>C (p.Glu2231Ala)
c.5585A>C (p.Glu1862Ala)
c.9611A>C (p.Glu3204Ala)
c.5363A>C (p.Glu1788Ala)
c.8591A>C (p.Glu2864Ala)
8g.99835313A>GCA371782898VPS13Bc.9806A>G (p.Glu3269Gly)
n.9876A>G
c.*5488A>G (n.*5488A>G)
c.9731A>G (p.Glu3244Gly)
c.9803A>G (p.Glu3268Gly)
c.9728A>G (p.Glu3243Gly)
c.9428A>G (p.Glu3143Gly)
c.6692A>G (p.Glu2231Gly)
c.5585A>G (p.Glu1862Gly)
c.9611A>G (p.Glu3204Gly)
c.5363A>G (p.Glu1788Gly)
c.8591A>G (p.Glu2864Gly)
8g.99835313A>TCA371782900VPS13Bc.9806A>T (p.Glu3269Val)
n.9876A>T
c.*5488A>T (n.*5488A>T)
c.9731A>T (p.Glu3244Val)
c.9803A>T (p.Glu3268Val)
c.9728A>T (p.Glu3243Val)
c.9428A>T (p.Glu3143Val)
c.6692A>T (p.Glu2231Val)
c.5585A>T (p.Glu1862Val)
c.9611A>T (p.Glu3204Val)
c.5363A>T (p.Glu1788Val)
c.8591A>T (p.Glu2864Val)
8g.99835314A>CCA371782906VPS13Bc.9807A>C (p.Glu3269Asp)
n.9877A>C
c.*5489A>C (n.*5489A>C)
c.9732A>C (p.Glu3244Asp)
c.9804A>C (p.Glu3268Asp)
c.9729A>C (p.Glu3243Asp)
c.9429A>C (p.Glu3143Asp)
c.6693A>C (p.Glu2231Asp)
c.5586A>C (p.Glu1862Asp)
c.9612A>C (p.Glu3204Asp)
c.5364A>C (p.Glu1788Asp)
c.8592A>C (p.Glu2864Asp)
8g.99835314A>GCA182339377VPS13Bc.9807A>G (p.Glu3269=)
n.9877A>G
c.*5489A>G (n.*5489A>G)
c.9732A>G (p.Glu3244=)
c.9804A>G (p.Glu3268=)
c.9729A>G (p.Glu3243=)
c.9429A>G (p.Glu3143=)
c.6693A>G (p.Glu2231=)
c.5586A>G (p.Glu1862=)
c.9612A>G (p.Glu3204=)
c.5364A>G (p.Glu1788=)
c.8592A>G (p.Glu2864=)
 dbSNP
8g.99835314A>TCA371782903VPS13Bc.9807A>T (p.Glu3269Asp)
n.9877A>T
c.*5489A>T (n.*5489A>T)
c.9732A>T (p.Glu3244Asp)
c.9804A>T (p.Glu3268Asp)
c.9729A>T (p.Glu3243Asp)
c.9429A>T (p.Glu3143Asp)
c.6693A>T (p.Glu2231Asp)
c.5586A>T (p.Glu1862Asp)
c.9612A>T (p.Glu3204Asp)
c.5364A>T (p.Glu1788Asp)
c.8592A>T (p.Glu2864Asp)
8g.99835315A>CCA371782908VPS13Bc.9808A>C (p.Asn3270His)
n.9878A>C
c.*5490A>C (n.*5490A>C)
c.9733A>C (p.Asn3245His)
c.9805A>C (p.Asn3269His)
c.9730A>C (p.Asn3244His)
c.9430A>C (p.Asn3144His)
c.6694A>C (p.Asn2232His)
c.5587A>C (p.Asn1863His)
c.9613A>C (p.Asn3205His)
c.5365A>C (p.Asn1789His)
c.8593A>C (p.Asn2865His)
8g.99835315A>GCA371782911VPS13Bc.9808A>G (p.Asn3270Asp)
n.9878A>G
c.*5490A>G (n.*5490A>G)
c.9733A>G (p.Asn3245Asp)
c.9805A>G (p.Asn3269Asp)
c.9730A>G (p.Asn3244Asp)
c.9430A>G (p.Asn3144Asp)
c.6694A>G (p.Asn2232Asp)
c.5587A>G (p.Asn1863Asp)
c.9613A>G (p.Asn3205Asp)
c.5365A>G (p.Asn1789Asp)
c.8593A>G (p.Asn2865Asp)
8g.99835315A>TCA371782912VPS13Bc.9808A>T (p.Asn3270Tyr)
n.9878A>T
c.*5490A>T (n.*5490A>T)
c.9733A>T (p.Asn3245Tyr)
c.9805A>T (p.Asn3269Tyr)
c.9730A>T (p.Asn3244Tyr)
c.9430A>T (p.Asn3144Tyr)
c.6694A>T (p.Asn2232Tyr)
c.5587A>T (p.Asn1863Tyr)
c.9613A>T (p.Asn3205Tyr)
c.5365A>T (p.Asn1789Tyr)
c.8593A>T (p.Asn2865Tyr)
8g.99835316A>CCA371782913VPS13Bc.9809A>C (p.Asn3270Thr)
n.9879A>C
c.*5491A>C (n.*5491A>C)
c.9734A>C (p.Asn3245Thr)
c.9806A>C (p.Asn3269Thr)
c.9731A>C (p.Asn3244Thr)
c.9431A>C (p.Asn3144Thr)
c.6695A>C (p.Asn2232Thr)
c.5588A>C (p.Asn1863Thr)
c.9614A>C (p.Asn3205Thr)
c.5366A>C (p.Asn1789Thr)
c.8594A>C (p.Asn2865Thr)
8g.99835316A>GCA371782914VPS13Bc.9809A>G (p.Asn3270Ser)
n.9879A>G
c.*5491A>G (n.*5491A>G)
c.9734A>G (p.Asn3245Ser)
c.9806A>G (p.Asn3269Ser)
c.9731A>G (p.Asn3244Ser)
c.9431A>G (p.Asn3144Ser)
c.6695A>G (p.Asn2232Ser)
c.5588A>G (p.Asn1863Ser)
c.9614A>G (p.Asn3205Ser)
c.5366A>G (p.Asn1789Ser)
c.8594A>G (p.Asn2865Ser)
8g.99835316A>TCA371782915VPS13Bc.9809A>T (p.Asn3270Ile)
n.9879A>T
c.*5491A>T (n.*5491A>T)
c.9734A>T (p.Asn3245Ile)
c.9806A>T (p.Asn3269Ile)
c.9731A>T (p.Asn3244Ile)
c.9431A>T (p.Asn3144Ile)
c.6695A>T (p.Asn2232Ile)
c.5588A>T (p.Asn1863Ile)
c.9614A>T (p.Asn3205Ile)
c.5366A>T (p.Asn1789Ile)
c.8594A>T (p.Asn2865Ile)
8g.99835317C>ACA371782916VPS13Bc.9810C>A (p.Asn3270Lys)
n.9880C>A
c.*5492C>A (n.*5492C>A)
c.9735C>A (p.Asn3245Lys)
c.9807C>A (p.Asn3269Lys)
c.9732C>A (p.Asn3244Lys)
c.9432C>A (p.Asn3144Lys)
c.6696C>A (p.Asn2232Lys)
c.5589C>A (p.Asn1863Lys)
c.9615C>A (p.Asn3205Lys)
c.5367C>A (p.Asn1789Lys)
c.8595C>A (p.Asn2865Lys)

Number of alleles fetched