Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99835589A>CCA371783902VPS13Bc.9868A>C (p.Ile3290Leu)
n.9938A>C
c.*5550A>C (n.*5550A>C)
c.9793A>C (p.Ile3265Leu)
c.9865A>C (p.Ile3289Leu)
c.9790A>C (p.Ile3264Leu)
c.9490A>C (p.Ile3164Leu)
c.6754A>C (p.Ile2252Leu)
c.5647A>C (p.Ile1883Leu)
c.9673A>C (p.Ile3225Leu)
c.5425A>C (p.Ile1809Leu)
c.8653A>C (p.Ile2885Leu)
8g.99835589A>GCA371783893VPS13Bc.9868A>G (p.Ile3290Val)
n.9938A>G
c.*5550A>G (n.*5550A>G)
c.9793A>G (p.Ile3265Val)
c.9865A>G (p.Ile3289Val)
c.9790A>G (p.Ile3264Val)
c.9490A>G (p.Ile3164Val)
c.6754A>G (p.Ile2252Val)
c.5647A>G (p.Ile1883Val)
c.9673A>G (p.Ile3225Val)
c.5425A>G (p.Ile1809Val)
c.8653A>G (p.Ile2885Val)
 gnomAD v4
8g.99835589A>TCA371783892VPS13Bc.9868A>T (p.Ile3290Phe)
n.9938A>T
c.*5550A>T (n.*5550A>T)
c.9793A>T (p.Ile3265Phe)
c.9865A>T (p.Ile3289Phe)
c.9790A>T (p.Ile3264Phe)
c.9490A>T (p.Ile3164Phe)
c.6754A>T (p.Ile2252Phe)
c.5647A>T (p.Ile1883Phe)
c.9673A>T (p.Ile3225Phe)
c.5425A>T (p.Ile1809Phe)
c.8653A>T (p.Ile2885Phe)
8g.99835590T>ACA371783906VPS13Bc.9869T>A (p.Ile3290Asn)
n.9939T>A
c.*5551T>A (n.*5551T>A)
c.9794T>A (p.Ile3265Asn)
c.9866T>A (p.Ile3289Asn)
c.9791T>A (p.Ile3264Asn)
c.9491T>A (p.Ile3164Asn)
c.6755T>A (p.Ile2252Asn)
c.5648T>A (p.Ile1883Asn)
c.9674T>A (p.Ile3225Asn)
c.5426T>A (p.Ile1809Asn)
c.8654T>A (p.Ile2885Asn)
8g.99835590T>CCA371783912VPS13Bc.9869T>C (p.Ile3290Thr)
n.9939T>C
c.*5551T>C (n.*5551T>C)
c.9794T>C (p.Ile3265Thr)
c.9866T>C (p.Ile3289Thr)
c.9791T>C (p.Ile3264Thr)
c.9491T>C (p.Ile3164Thr)
c.6755T>C (p.Ile2252Thr)
c.5648T>C (p.Ile1883Thr)
c.9674T>C (p.Ile3225Thr)
c.5426T>C (p.Ile1809Thr)
c.8654T>C (p.Ile2885Thr)
8g.99835590T>GCA371783908VPS13Bc.9869T>G (p.Ile3290Ser)
n.9939T>G
c.*5551T>G (n.*5551T>G)
c.9794T>G (p.Ile3265Ser)
c.9866T>G (p.Ile3289Ser)
c.9791T>G (p.Ile3264Ser)
c.9491T>G (p.Ile3164Ser)
c.6755T>G (p.Ile2252Ser)
c.5648T>G (p.Ile1883Ser)
c.9674T>G (p.Ile3225Ser)
c.5426T>G (p.Ile1809Ser)
c.8654T>G (p.Ile2885Ser)
 dbSNP
8g.99835591T>ACA462340741VPS13Bc.9870T>A (p.Ile3290=)
n.9940T>A
c.*5552T>A (n.*5552T>A)
c.9795T>A (p.Ile3265=)
c.9867T>A (p.Ile3289=)
c.9792T>A (p.Ile3264=)
c.9492T>A (p.Ile3164=)
c.6756T>A (p.Ile2252=)
c.5649T>A (p.Ile1883=)
c.9675T>A (p.Ile3225=)
c.5427T>A (p.Ile1809=)
c.8655T>A (p.Ile2885=)
8g.99835591T>CCA462340742VPS13Bc.9870T>C (p.Ile3290=)
n.9940T>C
c.*5552T>C (n.*5552T>C)
c.9795T>C (p.Ile3265=)
c.9867T>C (p.Ile3289=)
c.9792T>C (p.Ile3264=)
c.9492T>C (p.Ile3164=)
c.6756T>C (p.Ile2252=)
c.5649T>C (p.Ile1883=)
c.9675T>C (p.Ile3225=)
c.5427T>C (p.Ile1809=)
c.8655T>C (p.Ile2885=)
8g.99835591T>GCA371783914VPS13Bc.9870T>G (p.Ile3290Met)
n.9940T>G
c.*5552T>G (n.*5552T>G)
c.9795T>G (p.Ile3265Met)
c.9867T>G (p.Ile3289Met)
c.9792T>G (p.Ile3264Met)
c.9492T>G (p.Ile3164Met)
c.6756T>G (p.Ile2252Met)
c.5649T>G (p.Ile1883Met)
c.9675T>G (p.Ile3225Met)
c.5427T>G (p.Ile1809Met)
c.8655T>G (p.Ile2885Met)
8g.99835592C>ACA371783925VPS13Bc.9871C>A (p.His3291Asn)
n.9941C>A
c.*5553C>A (n.*5553C>A)
c.9796C>A (p.His3266Asn)
c.9868C>A (p.His3290Asn)
c.9793C>A (p.His3265Asn)
c.9493C>A (p.His3165Asn)
c.6757C>A (p.His2253Asn)
c.5650C>A (p.His1884Asn)
c.9676C>A (p.His3226Asn)
c.5428C>A (p.His1810Asn)
c.8656C>A (p.His2886Asn)
8g.99835592C>GCA371783917VPS13Bc.9871C>G (p.His3291Asp)
n.9941C>G
c.*5553C>G (n.*5553C>G)
c.9796C>G (p.His3266Asp)
c.9868C>G (p.His3290Asp)
c.9793C>G (p.His3265Asp)
c.9493C>G (p.His3165Asp)
c.6757C>G (p.His2253Asp)
c.5650C>G (p.His1884Asp)
c.9676C>G (p.His3226Asp)
c.5428C>G (p.His1810Asp)
c.8656C>G (p.His2886Asp)
8g.99835592C>TCA371783923VPS13Bc.9871C>T (p.His3291Tyr)
n.9941C>T
c.*5553C>T (n.*5553C>T)
c.9796C>T (p.His3266Tyr)
c.9868C>T (p.His3290Tyr)
c.9793C>T (p.His3265Tyr)
c.9493C>T (p.His3165Tyr)
c.6757C>T (p.His2253Tyr)
c.5650C>T (p.His1884Tyr)
c.9676C>T (p.His3226Tyr)
c.5428C>T (p.His1810Tyr)
c.8656C>T (p.His2886Tyr)
 ClinVar dbSNP
8g.99835593A>CCA371783944VPS13Bc.9872A>C (p.His3291Pro)
n.9942A>C
c.*5554A>C (n.*5554A>C)
c.9797A>C (p.His3266Pro)
c.9869A>C (p.His3290Pro)
c.9794A>C (p.His3265Pro)
c.9494A>C (p.His3165Pro)
c.6758A>C (p.His2253Pro)
c.5651A>C (p.His1884Pro)
c.9677A>C (p.His3226Pro)
c.5429A>C (p.His1810Pro)
c.8657A>C (p.His2886Pro)
8g.99835593A>GCA371783946VPS13Bc.9872A>G (p.His3291Arg)
n.9942A>G
c.*5554A>G (n.*5554A>G)
c.9797A>G (p.His3266Arg)
c.9869A>G (p.His3290Arg)
c.9794A>G (p.His3265Arg)
c.9494A>G (p.His3165Arg)
c.6758A>G (p.His2253Arg)
c.5651A>G (p.His1884Arg)
c.9677A>G (p.His3226Arg)
c.5429A>G (p.His1810Arg)
c.8657A>G (p.His2886Arg)
 ClinVar dbSNP gnomAD v4
8g.99835593A>TCA371783950VPS13Bc.9872A>T (p.His3291Leu)
n.9942A>T
c.*5554A>T (n.*5554A>T)
c.9797A>T (p.His3266Leu)
c.9869A>T (p.His3290Leu)
c.9794A>T (p.His3265Leu)
c.9494A>T (p.His3165Leu)
c.6758A>T (p.His2253Leu)
c.5651A>T (p.His1884Leu)
c.9677A>T (p.His3226Leu)
c.5429A>T (p.His1810Leu)
c.8657A>T (p.His2886Leu)
8g.99835594T>ACA371783953VPS13Bc.9873T>A (p.His3291Gln)
n.9943T>A
c.*5555T>A (n.*5555T>A)
c.9798T>A (p.His3266Gln)
c.9870T>A (p.His3290Gln)
c.9795T>A (p.His3265Gln)
c.9495T>A (p.His3165Gln)
c.6759T>A (p.His2253Gln)
c.5652T>A (p.His1884Gln)
c.9678T>A (p.His3226Gln)
c.5430T>A (p.His1810Gln)
c.8658T>A (p.His2886Gln)
8g.99835594T>CCA462340743VPS13Bc.9873T>C (p.His3291=)
n.9943T>C
c.*5555T>C (n.*5555T>C)
c.9798T>C (p.His3266=)
c.9870T>C (p.His3290=)
c.9795T>C (p.His3265=)
c.9495T>C (p.His3165=)
c.6759T>C (p.His2253=)
c.5652T>C (p.His1884=)
c.9678T>C (p.His3226=)
c.5430T>C (p.His1810=)
c.8658T>C (p.His2886=)
8g.99835594T>GCA371783960VPS13Bc.9873T>G (p.His3291Gln)
n.9943T>G
c.*5555T>G (n.*5555T>G)
c.9798T>G (p.His3266Gln)
c.9870T>G (p.His3290Gln)
c.9795T>G (p.His3265Gln)
c.9495T>G (p.His3165Gln)
c.6759T>G (p.His2253Gln)
c.5652T>G (p.His1884Gln)
c.9678T>G (p.His3226Gln)
c.5430T>G (p.His1810Gln)
c.8658T>G (p.His2886Gln)
8g.99835595C>ACA371783963VPS13Bc.9874C>A (p.His3292Asn)
n.9944C>A
c.*5556C>A (n.*5556C>A)
c.9799C>A (p.His3267Asn)
c.9871C>A (p.His3291Asn)
c.9796C>A (p.His3266Asn)
c.9496C>A (p.His3166Asn)
c.6760C>A (p.His2254Asn)
c.5653C>A (p.His1885Asn)
c.9679C>A (p.His3227Asn)
c.5431C>A (p.His1811Asn)
c.8659C>A (p.His2887Asn)
8g.99835595C>GCA371783966VPS13Bc.9874C>G (p.His3292Asp)
n.9944C>G
c.*5556C>G (n.*5556C>G)
c.9799C>G (p.His3267Asp)
c.9871C>G (p.His3291Asp)
c.9796C>G (p.His3266Asp)
c.9496C>G (p.His3166Asp)
c.6760C>G (p.His2254Asp)
c.5653C>G (p.His1885Asp)
c.9679C>G (p.His3227Asp)
c.5431C>G (p.His1811Asp)
c.8659C>G (p.His2887Asp)
 COSMIC COSMIC
8g.99835595C>TCA371783967VPS13Bc.9874C>T (p.His3292Tyr)
n.9944C>T
c.*5556C>T (n.*5556C>T)
c.9799C>T (p.His3267Tyr)
c.9871C>T (p.His3291Tyr)
c.9796C>T (p.His3266Tyr)
c.9496C>T (p.His3166Tyr)
c.6760C>T (p.His2254Tyr)
c.5653C>T (p.His1885Tyr)
c.9679C>T (p.His3227Tyr)
c.5431C>T (p.His1811Tyr)
c.8659C>T (p.His2887Tyr)
8g.99835596A>CCA371783968VPS13Bc.9875A>C (p.His3292Pro)
n.9945A>C
c.*5557A>C (n.*5557A>C)
c.9800A>C (p.His3267Pro)
c.9872A>C (p.His3291Pro)
c.9797A>C (p.His3266Pro)
c.9497A>C (p.His3166Pro)
c.6761A>C (p.His2254Pro)
c.5654A>C (p.His1885Pro)
c.9680A>C (p.His3227Pro)
c.5432A>C (p.His1811Pro)
c.8660A>C (p.His2887Pro)
8g.99835596A>GCA371783969VPS13Bc.9875A>G (p.His3292Arg)
n.9945A>G
c.*5557A>G (n.*5557A>G)
c.9800A>G (p.His3267Arg)
c.9872A>G (p.His3291Arg)
c.9797A>G (p.His3266Arg)
c.9497A>G (p.His3166Arg)
c.6761A>G (p.His2254Arg)
c.5654A>G (p.His1885Arg)
c.9680A>G (p.His3227Arg)
c.5432A>G (p.His1811Arg)
c.8660A>G (p.His2887Arg)
 dbSNP
8g.99835596A>TCA371783971VPS13Bc.9875A>T (p.His3292Leu)
n.9945A>T
c.*5557A>T (n.*5557A>T)
c.9800A>T (p.His3267Leu)
c.9872A>T (p.His3291Leu)
c.9797A>T (p.His3266Leu)
c.9497A>T (p.His3166Leu)
c.6761A>T (p.His2254Leu)
c.5654A>T (p.His1885Leu)
c.9680A>T (p.His3227Leu)
c.5432A>T (p.His1811Leu)
c.8660A>T (p.His2887Leu)
8g.99835597T>ACA371783973VPS13Bc.9876T>A (p.His3292Gln)
n.9946T>A
c.*5558T>A (n.*5558T>A)
c.9801T>A (p.His3267Gln)
c.9873T>A (p.His3291Gln)
c.9798T>A (p.His3266Gln)
c.9498T>A (p.His3166Gln)
c.6762T>A (p.His2254Gln)
c.5655T>A (p.His1885Gln)
c.9681T>A (p.His3227Gln)
c.5433T>A (p.His1811Gln)
c.8661T>A (p.His2887Gln)
8g.99835597T>CCA462340745VPS13Bc.9876T>C (p.His3292=)
n.9946T>C
c.*5558T>C (n.*5558T>C)
c.9801T>C (p.His3267=)
c.9873T>C (p.His3291=)
c.9798T>C (p.His3266=)
c.9498T>C (p.His3166=)
c.6762T>C (p.His2254=)
c.5655T>C (p.His1885=)
c.9681T>C (p.His3227=)
c.5433T>C (p.His1811=)
c.8661T>C (p.His2887=)
 dbSNP
8g.99835597T>GCA371783976VPS13Bc.9876T>G (p.His3292Gln)
n.9946T>G
c.*5558T>G (n.*5558T>G)
c.9801T>G (p.His3267Gln)
c.9873T>G (p.His3291Gln)
c.9798T>G (p.His3266Gln)
c.9498T>G (p.His3166Gln)
c.6762T>G (p.His2254Gln)
c.5655T>G (p.His1885Gln)
c.9681T>G (p.His3227Gln)
c.5433T>G (p.His1811Gln)
c.8661T>G (p.His2887Gln)
 gnomAD v4
8g.99835598delCA2602581395VPS13Bc.9877del (p.Glu3293SerfsTer23)
n.9947del
c.*5559del (n.*5559del)
c.9802del (p.Glu3268SerfsTer23)
c.9874del (p.Glu3292SerfsTer23)
c.9799del (p.Glu3267SerfsTer23)
c.9499del (p.Glu3167SerfsTer23)
c.6763del (p.Glu2255SerfsTer23)
c.5656del (p.Glu1886SerfsTer23)
c.9682del (p.Glu3228SerfsTer23)
c.5434del (p.Glu1812SerfsTer23)
c.8662del (p.Glu2888SerfsTer23)
 gnomAD v3 gnomAD v4
8g.99835598G>ACA371783984VPS13Bc.9877G>A (p.Glu3293Lys)
n.9947G>A
c.*5559G>A (n.*5559G>A)
c.9802G>A (p.Glu3268Lys)
c.9874G>A (p.Glu3292Lys)
c.9799G>A (p.Glu3267Lys)
c.9499G>A (p.Glu3167Lys)
c.6763G>A (p.Glu2255Lys)
c.5656G>A (p.Glu1886Lys)
c.9682G>A (p.Glu3228Lys)
c.5434G>A (p.Glu1812Lys)
c.8662G>A (p.Glu2888Lys)
8g.99835598G>CCA371783989VPS13Bc.9877G>C (p.Glu3293Gln)
n.9947G>C
c.*5559G>C (n.*5559G>C)
c.9802G>C (p.Glu3268Gln)
c.9874G>C (p.Glu3292Gln)
c.9799G>C (p.Glu3267Gln)
c.9499G>C (p.Glu3167Gln)
c.6763G>C (p.Glu2255Gln)
c.5656G>C (p.Glu1886Gln)
c.9682G>C (p.Glu3228Gln)
c.5434G>C (p.Glu1812Gln)
c.8662G>C (p.Glu2888Gln)
8g.99835598G>TCA371783992VPS13Bc.9877G>T (p.Glu3293Ter)
n.9947G>T
c.*5559G>T (n.*5559G>T)
c.9802G>T (p.Glu3268Ter)
c.9874G>T (p.Glu3292Ter)
c.9799G>T (p.Glu3267Ter)
c.9499G>T (p.Glu3167Ter)
c.6763G>T (p.Glu2255Ter)
c.5656G>T (p.Glu1886Ter)
c.9682G>T (p.Glu3228Ter)
c.5434G>T (p.Glu1812Ter)
c.8662G>T (p.Glu2888Ter)
8g.99835599A>CCA371783994VPS13Bc.9878A>C (p.Glu3293Ala)
n.9948A>C
c.*5560A>C (n.*5560A>C)
c.9803A>C (p.Glu3268Ala)
c.9875A>C (p.Glu3292Ala)
c.9800A>C (p.Glu3267Ala)
c.9500A>C (p.Glu3167Ala)
c.6764A>C (p.Glu2255Ala)
c.5657A>C (p.Glu1886Ala)
c.9683A>C (p.Glu3228Ala)
c.5435A>C (p.Glu1812Ala)
c.8663A>C (p.Glu2888Ala)
8g.99835599A>GCA371783996VPS13Bc.9878A>G (p.Glu3293Gly)
n.9948A>G
c.*5560A>G (n.*5560A>G)
c.9803A>G (p.Glu3268Gly)
c.9875A>G (p.Glu3292Gly)
c.9800A>G (p.Glu3267Gly)
c.9500A>G (p.Glu3167Gly)
c.6764A>G (p.Glu2255Gly)
c.5657A>G (p.Glu1886Gly)
c.9683A>G (p.Glu3228Gly)
c.5435A>G (p.Glu1812Gly)
c.8663A>G (p.Glu2888Gly)
8g.99835599A>TCA371783999VPS13Bc.9878A>T (p.Glu3293Val)
n.9948A>T
c.*5560A>T (n.*5560A>T)
c.9803A>T (p.Glu3268Val)
c.9875A>T (p.Glu3292Val)
c.9800A>T (p.Glu3267Val)
c.9500A>T (p.Glu3167Val)
c.6764A>T (p.Glu2255Val)
c.5657A>T (p.Glu1886Val)
c.9683A>T (p.Glu3228Val)
c.5435A>T (p.Glu1812Val)
c.8663A>T (p.Glu2888Val)
8g.99835600G>ACA462340750VPS13Bc.9879G>A (p.Glu3293=)
n.9949G>A
c.*5561G>A (n.*5561G>A)
c.9804G>A (p.Glu3268=)
c.9876G>A (p.Glu3292=)
c.9801G>A (p.Glu3267=)
c.9501G>A (p.Glu3167=)
c.6765G>A (p.Glu2255=)
c.5658G>A (p.Glu1886=)
c.9684G>A (p.Glu3228=)
c.5436G>A (p.Glu1812=)
c.8664G>A (p.Glu2888=)
 dbSNP gnomAD v4
8g.99835600G>CCA371784002VPS13Bc.9879G>C (p.Glu3293Asp)
n.9949G>C
c.*5561G>C (n.*5561G>C)
c.9804G>C (p.Glu3268Asp)
c.9876G>C (p.Glu3292Asp)
c.9801G>C (p.Glu3267Asp)
c.9501G>C (p.Glu3167Asp)
c.6765G>C (p.Glu2255Asp)
c.5658G>C (p.Glu1886Asp)
c.9684G>C (p.Glu3228Asp)
c.5436G>C (p.Glu1812Asp)
c.8664G>C (p.Glu2888Asp)
 gnomAD v3 gnomAD v4
8g.99835600G>TCA371784007VPS13Bc.9879G>T (p.Glu3293Asp)
n.9949G>T
c.*5561G>T (n.*5561G>T)
c.9804G>T (p.Glu3268Asp)
c.9876G>T (p.Glu3292Asp)
c.9801G>T (p.Glu3267Asp)
c.9501G>T (p.Glu3167Asp)
c.6765G>T (p.Glu2255Asp)
c.5658G>T (p.Glu1886Asp)
c.9684G>T (p.Glu3228Asp)
c.5436G>T (p.Glu1812Asp)
c.8664G>T (p.Glu2888Asp)
8g.99835601C>ACA371784011VPS13Bc.9880C>A (p.Leu3294Met)
n.9950C>A
c.*5562C>A (n.*5562C>A)
c.9805C>A (p.Leu3269Met)
c.9877C>A (p.Leu3293Met)
c.9802C>A (p.Leu3268Met)
c.9502C>A (p.Leu3168Met)
c.6766C>A (p.Leu2256Met)
c.5659C>A (p.Leu1887Met)
c.9685C>A (p.Leu3229Met)
c.5437C>A (p.Leu1813Met)
c.8665C>A (p.Leu2889Met)
8g.99835601C>GCA371784014VPS13Bc.9880C>G (p.Leu3294Val)
n.9950C>G
c.*5562C>G (n.*5562C>G)
c.9805C>G (p.Leu3269Val)
c.9877C>G (p.Leu3293Val)
c.9802C>G (p.Leu3268Val)
c.9502C>G (p.Leu3168Val)
c.6766C>G (p.Leu2256Val)
c.5659C>G (p.Leu1887Val)
c.9685C>G (p.Leu3229Val)
c.5437C>G (p.Leu1813Val)
c.8665C>G (p.Leu2889Val)
8g.99835601C>TCA462340754VPS13Bc.9880C>T (p.Leu3294=)
n.9950C>T
c.*5562C>T (n.*5562C>T)
c.9805C>T (p.Leu3269=)
c.9877C>T (p.Leu3293=)
c.9802C>T (p.Leu3268=)
c.9502C>T (p.Leu3168=)
c.6766C>T (p.Leu2256=)
c.5659C>T (p.Leu1887=)
c.9685C>T (p.Leu3229=)
c.5437C>T (p.Leu1813=)
c.8665C>T (p.Leu2889=)
8g.99835602T>ACA371784021VPS13Bc.9881T>A (p.Leu3294Gln)
n.9951T>A
c.*5563T>A (n.*5563T>A)
c.9806T>A (p.Leu3269Gln)
c.9878T>A (p.Leu3293Gln)
c.9803T>A (p.Leu3268Gln)
c.9503T>A (p.Leu3168Gln)
c.6767T>A (p.Leu2256Gln)
c.5660T>A (p.Leu1887Gln)
c.9686T>A (p.Leu3229Gln)
c.5438T>A (p.Leu1813Gln)
c.8666T>A (p.Leu2889Gln)
8g.99835602T>CCA182339652VPS13Bc.9881T>C (p.Leu3294Pro)
n.9951T>C
c.*5563T>C (n.*5563T>C)
c.9806T>C (p.Leu3269Pro)
c.9878T>C (p.Leu3293Pro)
c.9803T>C (p.Leu3268Pro)
c.9503T>C (p.Leu3168Pro)
c.6767T>C (p.Leu2256Pro)
c.5660T>C (p.Leu1887Pro)
c.9686T>C (p.Leu3229Pro)
c.5438T>C (p.Leu1813Pro)
c.8666T>C (p.Leu2889Pro)
 dbSNP
8g.99835602T>GCA371784017VPS13Bc.9881T>G (p.Leu3294Arg)
n.9951T>G
c.*5563T>G (n.*5563T>G)
c.9806T>G (p.Leu3269Arg)
c.9878T>G (p.Leu3293Arg)
c.9803T>G (p.Leu3268Arg)
c.9503T>G (p.Leu3168Arg)
c.6767T>G (p.Leu2256Arg)
c.5660T>G (p.Leu1887Arg)
c.9686T>G (p.Leu3229Arg)
c.5438T>G (p.Leu1813Arg)
c.8666T>G (p.Leu2889Arg)
8g.99835603G>ACA462340757VPS13Bc.9882G>A (p.Leu3294=)
n.9952G>A
c.*5564G>A (n.*5564G>A)
c.9807G>A (p.Leu3269=)
c.9879G>A (p.Leu3293=)
c.9804G>A (p.Leu3268=)
c.9504G>A (p.Leu3168=)
c.6768G>A (p.Leu2256=)
c.5661G>A (p.Leu1887=)
c.9687G>A (p.Leu3229=)
c.5439G>A (p.Leu1813=)
c.8667G>A (p.Leu2889=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99835603G>CCA462340758VPS13Bc.9882G>C (p.Leu3294=)
n.9952G>C
c.*5564G>C (n.*5564G>C)
c.9807G>C (p.Leu3269=)
c.9879G>C (p.Leu3293=)
c.9804G>C (p.Leu3268=)
c.9504G>C (p.Leu3168=)
c.6768G>C (p.Leu2256=)
c.5661G>C (p.Leu1887=)
c.9687G>C (p.Leu3229=)
c.5439G>C (p.Leu1813=)
c.8667G>C (p.Leu2889=)
8g.99835603G>TCA462340760VPS13Bc.9882G>T (p.Leu3294=)
n.9952G>T
c.*5564G>T (n.*5564G>T)
c.9807G>T (p.Leu3269=)
c.9879G>T (p.Leu3293=)
c.9804G>T (p.Leu3268=)
c.9504G>T (p.Leu3168=)
c.6768G>T (p.Leu2256=)
c.5661G>T (p.Leu1887=)
c.9687G>T (p.Leu3229=)
c.5439G>T (p.Leu1813=)
c.8667G>T (p.Leu2889=)
8g.99835604T>ACA371784023VPS13Bc.9883T>A (p.Tyr3295Asn)
n.9953T>A
c.*5565T>A (n.*5565T>A)
c.9808T>A (p.Tyr3270Asn)
c.9880T>A (p.Tyr3294Asn)
c.9805T>A (p.Tyr3269Asn)
c.9505T>A (p.Tyr3169Asn)
c.6769T>A (p.Tyr2257Asn)
c.5662T>A (p.Tyr1888Asn)
c.9688T>A (p.Tyr3230Asn)
c.5440T>A (p.Tyr1814Asn)
c.8668T>A (p.Tyr2890Asn)
 gnomAD v4
8g.99835604T>CCA371784024VPS13Bc.9883T>C (p.Tyr3295His)
n.9953T>C
c.*5565T>C (n.*5565T>C)
c.9808T>C (p.Tyr3270His)
c.9880T>C (p.Tyr3294His)
c.9805T>C (p.Tyr3269His)
c.9505T>C (p.Tyr3169His)
c.6769T>C (p.Tyr2257His)
c.5662T>C (p.Tyr1888His)
c.9688T>C (p.Tyr3230His)
c.5440T>C (p.Tyr1814His)
c.8668T>C (p.Tyr2890His)
 ClinVar
8g.99835604T>GCA371784026VPS13Bc.9883T>G (p.Tyr3295Asp)
n.9953T>G
c.*5565T>G (n.*5565T>G)
c.9808T>G (p.Tyr3270Asp)
c.9880T>G (p.Tyr3294Asp)
c.9805T>G (p.Tyr3269Asp)
c.9505T>G (p.Tyr3169Asp)
c.6769T>G (p.Tyr2257Asp)
c.5662T>G (p.Tyr1888Asp)
c.9688T>G (p.Tyr3230Asp)
c.5440T>G (p.Tyr1814Asp)
c.8668T>G (p.Tyr2890Asp)
8g.99835605A>CCA371784027VPS13Bc.9884A>C (p.Tyr3295Ser)
n.9954A>C
c.*5566A>C (n.*5566A>C)
c.9809A>C (p.Tyr3270Ser)
c.9881A>C (p.Tyr3294Ser)
c.9806A>C (p.Tyr3269Ser)
c.9506A>C (p.Tyr3169Ser)
c.6770A>C (p.Tyr2257Ser)
c.5663A>C (p.Tyr1888Ser)
c.9689A>C (p.Tyr3230Ser)
c.5441A>C (p.Tyr1814Ser)
c.8669A>C (p.Tyr2890Ser)
8g.99835605A>GCA371784028VPS13Bc.9884A>G (p.Tyr3295Cys)
n.9954A>G
c.*5566A>G (n.*5566A>G)
c.9809A>G (p.Tyr3270Cys)
c.9881A>G (p.Tyr3294Cys)
c.9806A>G (p.Tyr3269Cys)
c.9506A>G (p.Tyr3169Cys)
c.6770A>G (p.Tyr2257Cys)
c.5663A>G (p.Tyr1888Cys)
c.9689A>G (p.Tyr3230Cys)
c.5441A>G (p.Tyr1814Cys)
c.8669A>G (p.Tyr2890Cys)
8g.99835605A>TCA371784034VPS13Bc.9884A>T (p.Tyr3295Phe)
n.9954A>T
c.*5566A>T (n.*5566A>T)
c.9809A>T (p.Tyr3270Phe)
c.9881A>T (p.Tyr3294Phe)
c.9806A>T (p.Tyr3269Phe)
c.9506A>T (p.Tyr3169Phe)
c.6770A>T (p.Tyr2257Phe)
c.5663A>T (p.Tyr1888Phe)
c.9689A>T (p.Tyr3230Phe)
c.5441A>T (p.Tyr1814Phe)
c.8669A>T (p.Tyr2890Phe)
8g.99835606T>ACA371784040VPS13Bc.9885T>A (p.Tyr3295Ter)
n.9955T>A
c.*5567T>A (n.*5567T>A)
c.9810T>A (p.Tyr3270Ter)
c.9882T>A (p.Tyr3294Ter)
c.9807T>A (p.Tyr3269Ter)
c.9507T>A (p.Tyr3169Ter)
c.6771T>A (p.Tyr2257Ter)
c.5664T>A (p.Tyr1888Ter)
c.9690T>A (p.Tyr3230Ter)
c.5442T>A (p.Tyr1814Ter)
c.8670T>A (p.Tyr2890Ter)
8g.99835606T>CCA462340769VPS13Bc.9885T>C (p.Tyr3295=)
n.9955T>C
c.*5567T>C (n.*5567T>C)
c.9810T>C (p.Tyr3270=)
c.9882T>C (p.Tyr3294=)
c.9807T>C (p.Tyr3269=)
c.9507T>C (p.Tyr3169=)
c.6771T>C (p.Tyr2257=)
c.5664T>C (p.Tyr1888=)
c.9690T>C (p.Tyr3230=)
c.5442T>C (p.Tyr1814=)
c.8670T>C (p.Tyr2890=)
8g.99835606T>GCA371784042VPS13Bc.9885T>G (p.Tyr3295Ter)
n.9955T>G
c.*5567T>G (n.*5567T>G)
c.9810T>G (p.Tyr3270Ter)
c.9882T>G (p.Tyr3294Ter)
c.9807T>G (p.Tyr3269Ter)
c.9507T>G (p.Tyr3169Ter)
c.6771T>G (p.Tyr2257Ter)
c.5664T>G (p.Tyr1888Ter)
c.9690T>G (p.Tyr3230Ter)
c.5442T>G (p.Tyr1814Ter)
c.8670T>G (p.Tyr2890Ter)
8g.99835607C>ACA371784045VPS13Bc.9886C>A (p.His3296Asn)
n.9956C>A
c.*5568C>A (n.*5568C>A)
c.9811C>A (p.His3271Asn)
c.9883C>A (p.His3295Asn)
c.9808C>A (p.His3270Asn)
c.9508C>A (p.His3170Asn)
c.6772C>A (p.His2258Asn)
c.5665C>A (p.His1889Asn)
c.9691C>A (p.His3231Asn)
c.5443C>A (p.His1815Asn)
c.8671C>A (p.His2891Asn)
8g.99835607C>GCA371784047VPS13Bc.9886C>G (p.His3296Asp)
n.9956C>G
c.*5568C>G (n.*5568C>G)
c.9811C>G (p.His3271Asp)
c.9883C>G (p.His3295Asp)
c.9808C>G (p.His3270Asp)
c.9508C>G (p.His3170Asp)
c.6772C>G (p.His2258Asp)
c.5665C>G (p.His1889Asp)
c.9691C>G (p.His3231Asp)
c.5443C>G (p.His1815Asp)
c.8671C>G (p.His2891Asp)
8g.99835607C>TCA371784050VPS13Bc.9886C>T (p.His3296Tyr)
n.9956C>T
c.*5568C>T (n.*5568C>T)
c.9811C>T (p.His3271Tyr)
c.9883C>T (p.His3295Tyr)
c.9808C>T (p.His3270Tyr)
c.9508C>T (p.His3170Tyr)
c.6772C>T (p.His2258Tyr)
c.5665C>T (p.His1889Tyr)
c.9691C>T (p.His3231Tyr)
c.5443C>T (p.His1815Tyr)
c.8671C>T (p.His2891Tyr)
 dbSNP
8g.99835608A>CCA371784066VPS13Bc.9887A>C (p.His3296Pro)
n.9957A>C
c.*5569A>C (n.*5569A>C)
c.9812A>C (p.His3271Pro)
c.9884A>C (p.His3295Pro)
c.9809A>C (p.His3270Pro)
c.9509A>C (p.His3170Pro)
c.6773A>C (p.His2258Pro)
c.5666A>C (p.His1889Pro)
c.9692A>C (p.His3231Pro)
c.5444A>C (p.His1815Pro)
c.8672A>C (p.His2891Pro)
 gnomAD v4
8g.99835608A>GCA371784061VPS13Bc.9887A>G (p.His3296Arg)
n.9957A>G
c.*5569A>G (n.*5569A>G)
c.9812A>G (p.His3271Arg)
c.9884A>G (p.His3295Arg)
c.9809A>G (p.His3270Arg)
c.9509A>G (p.His3170Arg)
c.6773A>G (p.His2258Arg)
c.5666A>G (p.His1889Arg)
c.9692A>G (p.His3231Arg)
c.5444A>G (p.His1815Arg)
c.8672A>G (p.His2891Arg)
8g.99835608A>TCA371784054VPS13Bc.9887A>T (p.His3296Leu)
n.9957A>T
c.*5569A>T (n.*5569A>T)
c.9812A>T (p.His3271Leu)
c.9884A>T (p.His3295Leu)
c.9809A>T (p.His3270Leu)
c.9509A>T (p.His3170Leu)
c.6773A>T (p.His2258Leu)
c.5666A>T (p.His1889Leu)
c.9692A>T (p.His3231Leu)
c.5444A>T (p.His1815Leu)
c.8672A>T (p.His2891Leu)
8g.99835609T>ACA371784068VPS13Bc.9888T>A (p.His3296Gln)
n.9958T>A
c.*5570T>A (n.*5570T>A)
c.9813T>A (p.His3271Gln)
c.9885T>A (p.His3295Gln)
c.9810T>A (p.His3270Gln)
c.9510T>A (p.His3170Gln)
c.6774T>A (p.His2258Gln)
c.5667T>A (p.His1889Gln)
c.9693T>A (p.His3231Gln)
c.5445T>A (p.His1815Gln)
c.8673T>A (p.His2891Gln)
8g.99835609T>CCA462340777VPS13Bc.9888T>C (p.His3296=)
n.9958T>C
c.*5570T>C (n.*5570T>C)
c.9813T>C (p.His3271=)
c.9885T>C (p.His3295=)
c.9810T>C (p.His3270=)
c.9510T>C (p.His3170=)
c.6774T>C (p.His2258=)
c.5667T>C (p.His1889=)
c.9693T>C (p.His3231=)
c.5445T>C (p.His1815=)
c.8673T>C (p.His2891=)
8g.99835609T>GCA371784070VPS13Bc.9888T>G (p.His3296Gln)
n.9958T>G
c.*5570T>G (n.*5570T>G)
c.9813T>G (p.His3271Gln)
c.9885T>G (p.His3295Gln)
c.9810T>G (p.His3270Gln)
c.9510T>G (p.His3170Gln)
c.6774T>G (p.His2258Gln)
c.5667T>G (p.His1889Gln)
c.9693T>G (p.His3231Gln)
c.5445T>G (p.His1815Gln)
c.8673T>G (p.His2891Gln)
8g.99835610C>ACA371784072VPS13Bc.9889C>A (p.Gln3297Lys)
n.9959C>A
c.*5571C>A (n.*5571C>A)
c.9814C>A (p.Gln3272Lys)
c.9886C>A (p.Gln3296Lys)
c.9811C>A (p.Gln3271Lys)
c.9511C>A (p.Gln3171Lys)
c.6775C>A (p.Gln2259Lys)
c.5668C>A (p.Gln1890Lys)
c.9694C>A (p.Gln3232Lys)
c.5446C>A (p.Gln1816Lys)
c.8674C>A (p.Gln2892Lys)
8g.99835610C>GCA371784078VPS13Bc.9889C>G (p.Gln3297Glu)
n.9959C>G
c.*5571C>G (n.*5571C>G)
c.9814C>G (p.Gln3272Glu)
c.9886C>G (p.Gln3296Glu)
c.9811C>G (p.Gln3271Glu)
c.9511C>G (p.Gln3171Glu)
c.6775C>G (p.Gln2259Glu)
c.5668C>G (p.Gln1890Glu)
c.9694C>G (p.Gln3232Glu)
c.5446C>G (p.Gln1816Glu)
c.8674C>G (p.Gln2892Glu)
8g.99835610C>TCA371784080VPS13Bc.9889C>T (p.Gln3297Ter)
n.9959C>T
c.*5571C>T (n.*5571C>T)
c.9814C>T (p.Gln3272Ter)
c.9886C>T (p.Gln3296Ter)
c.9811C>T (p.Gln3271Ter)
c.9511C>T (p.Gln3171Ter)
c.6775C>T (p.Gln2259Ter)
c.5668C>T (p.Gln1890Ter)
c.9694C>T (p.Gln3232Ter)
c.5446C>T (p.Gln1816Ter)
c.8674C>T (p.Gln2892Ter)
8g.99835611A>CCA371784083VPS13Bc.9890A>C (p.Gln3297Pro)
n.9960A>C
c.*5572A>C (n.*5572A>C)
c.9815A>C (p.Gln3272Pro)
c.9887A>C (p.Gln3296Pro)
c.9812A>C (p.Gln3271Pro)
c.9512A>C (p.Gln3171Pro)
c.6776A>C (p.Gln2259Pro)
c.5669A>C (p.Gln1890Pro)
c.9695A>C (p.Gln3232Pro)
c.5447A>C (p.Gln1816Pro)
c.8675A>C (p.Gln2892Pro)
8g.99835611A>GCA371784084VPS13Bc.9890A>G (p.Gln3297Arg)
n.9960A>G
c.*5572A>G (n.*5572A>G)
c.9815A>G (p.Gln3272Arg)
c.9887A>G (p.Gln3296Arg)
c.9812A>G (p.Gln3271Arg)
c.9512A>G (p.Gln3171Arg)
c.6776A>G (p.Gln2259Arg)
c.5669A>G (p.Gln1890Arg)
c.9695A>G (p.Gln3232Arg)
c.5447A>G (p.Gln1816Arg)
c.8675A>G (p.Gln2892Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99835611A>TCA371784085VPS13Bc.9890A>T (p.Gln3297Leu)
n.9960A>T
c.*5572A>T (n.*5572A>T)
c.9815A>T (p.Gln3272Leu)
c.9887A>T (p.Gln3296Leu)
c.9812A>T (p.Gln3271Leu)
c.9512A>T (p.Gln3171Leu)
c.6776A>T (p.Gln2259Leu)
c.5669A>T (p.Gln1890Leu)
c.9695A>T (p.Gln3232Leu)
c.5447A>T (p.Gln1816Leu)
c.8675A>T (p.Gln2892Leu)
8g.99835612G>ACA462340784VPS13Bc.9891G>A (p.Gln3297=)
n.9961G>A
c.*5573G>A (n.*5573G>A)
c.9816G>A (p.Gln3272=)
c.9888G>A (p.Gln3296=)
c.9813G>A (p.Gln3271=)
c.9513G>A (p.Gln3171=)
c.6777G>A (p.Gln2259=)
c.5670G>A (p.Gln1890=)
c.9696G>A (p.Gln3232=)
c.5448G>A (p.Gln1816=)
c.8676G>A (p.Gln2892=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99835612G>CCA371784086VPS13Bc.9891G>C (p.Gln3297His)
n.9961G>C
c.*5573G>C (n.*5573G>C)
c.9816G>C (p.Gln3272His)
c.9888G>C (p.Gln3296His)
c.9813G>C (p.Gln3271His)
c.9513G>C (p.Gln3171His)
c.6777G>C (p.Gln2259His)
c.5670G>C (p.Gln1890His)
c.9696G>C (p.Gln3232His)
c.5448G>C (p.Gln1816His)
c.8676G>C (p.Gln2892His)
 gnomAD v4
8g.99835612G>TCA371784089VPS13Bc.9891G>T (p.Gln3297His)
n.9961G>T
c.*5573G>T (n.*5573G>T)
c.9816G>T (p.Gln3272His)
c.9888G>T (p.Gln3296His)
c.9813G>T (p.Gln3271His)
c.9513G>T (p.Gln3171His)
c.6777G>T (p.Gln2259His)
c.5670G>T (p.Gln1890His)
c.9696G>T (p.Gln3232His)
c.5448G>T (p.Gln1816His)
c.8676G>T (p.Gln2892His)
8g.99835613A>CCA371784092VPS13Bc.9892A>C (p.Ile3298Leu)
n.9962A>C
c.*5574A>C (n.*5574A>C)
c.9817A>C (p.Ile3273Leu)
c.9889A>C (p.Ile3297Leu)
c.9814A>C (p.Ile3272Leu)
c.9514A>C (p.Ile3172Leu)
c.6778A>C (p.Ile2260Leu)
c.5671A>C (p.Ile1891Leu)
c.9697A>C (p.Ile3233Leu)
c.5449A>C (p.Ile1817Leu)
c.8677A>C (p.Ile2893Leu)
8g.99835613A>GCA371784094VPS13Bc.9892A>G (p.Ile3298Val)
n.9962A>G
c.*5574A>G (n.*5574A>G)
c.9817A>G (p.Ile3273Val)
c.9889A>G (p.Ile3297Val)
c.9814A>G (p.Ile3272Val)
c.9514A>G (p.Ile3172Val)
c.6778A>G (p.Ile2260Val)
c.5671A>G (p.Ile1891Val)
c.9697A>G (p.Ile3233Val)
c.5449A>G (p.Ile1817Val)
c.8677A>G (p.Ile2893Val)
8g.99835613A>TCA371784095VPS13Bc.9892A>T (p.Ile3298Phe)
n.9962A>T
c.*5574A>T (n.*5574A>T)
c.9817A>T (p.Ile3273Phe)
c.9889A>T (p.Ile3297Phe)
c.9814A>T (p.Ile3272Phe)
c.9514A>T (p.Ile3172Phe)
c.6778A>T (p.Ile2260Phe)
c.5671A>T (p.Ile1891Phe)
c.9697A>T (p.Ile3233Phe)
c.5449A>T (p.Ile1817Phe)
c.8677A>T (p.Ile2893Phe)
8g.99835614T>ACA371784099VPS13Bc.9893T>A (p.Ile3298Asn)
n.9963T>A
c.*5575T>A (n.*5575T>A)
c.9818T>A (p.Ile3273Asn)
c.9890T>A (p.Ile3297Asn)
c.9815T>A (p.Ile3272Asn)
c.9515T>A (p.Ile3172Asn)
c.6779T>A (p.Ile2260Asn)
c.5672T>A (p.Ile1891Asn)
c.9698T>A (p.Ile3233Asn)
c.5450T>A (p.Ile1817Asn)
c.8678T>A (p.Ile2893Asn)
8g.99835614T>CCA371784102VPS13Bc.9893T>C (p.Ile3298Thr)
n.9963T>C
c.*5575T>C (n.*5575T>C)
c.9818T>C (p.Ile3273Thr)
c.9890T>C (p.Ile3297Thr)
c.9815T>C (p.Ile3272Thr)
c.9515T>C (p.Ile3172Thr)
c.6779T>C (p.Ile2260Thr)
c.5672T>C (p.Ile1891Thr)
c.9698T>C (p.Ile3233Thr)
c.5450T>C (p.Ile1817Thr)
c.8678T>C (p.Ile2893Thr)
 dbSNP
8g.99835614T>GCA371784097VPS13Bc.9893T>G (p.Ile3298Ser)
n.9963T>G
c.*5575T>G (n.*5575T>G)
c.9818T>G (p.Ile3273Ser)
c.9890T>G (p.Ile3297Ser)
c.9815T>G (p.Ile3272Ser)
c.9515T>G (p.Ile3172Ser)
c.6779T>G (p.Ile2260Ser)
c.5672T>G (p.Ile1891Ser)
c.9698T>G (p.Ile3233Ser)
c.5450T>G (p.Ile1817Ser)
c.8678T>G (p.Ile2893Ser)
8g.99835615T>ACA462340794VPS13Bc.9894T>A (p.Ile3298=)
n.9964T>A
c.*5576T>A (n.*5576T>A)
c.9819T>A (p.Ile3273=)
c.9891T>A (p.Ile3297=)
c.9816T>A (p.Ile3272=)
c.9516T>A (p.Ile3172=)
c.6780T>A (p.Ile2260=)
c.5673T>A (p.Ile1891=)
c.9699T>A (p.Ile3233=)
c.5451T>A (p.Ile1817=)
c.8679T>A (p.Ile2893=)
8g.99835615T>CCA462340795VPS13Bc.9894T>C (p.Ile3298=)
n.9964T>C
c.*5576T>C (n.*5576T>C)
c.9819T>C (p.Ile3273=)
c.9891T>C (p.Ile3297=)
c.9816T>C (p.Ile3272=)
c.9516T>C (p.Ile3172=)
c.6780T>C (p.Ile2260=)
c.5673T>C (p.Ile1891=)
c.9699T>C (p.Ile3233=)
c.5451T>C (p.Ile1817=)
c.8679T>C (p.Ile2893=)
8g.99835615T>GCA371784104VPS13Bc.9894T>G (p.Ile3298Met)
n.9964T>G
c.*5576T>G (n.*5576T>G)
c.9819T>G (p.Ile3273Met)
c.9891T>G (p.Ile3297Met)
c.9816T>G (p.Ile3272Met)
c.9516T>G (p.Ile3172Met)
c.6780T>G (p.Ile2260Met)
c.5673T>G (p.Ile1891Met)
c.9699T>G (p.Ile3233Met)
c.5451T>G (p.Ile1817Met)
c.8679T>G (p.Ile2893Met)
8g.99835616T>ACA371784106VPS13Bc.9895T>A (p.Ser3299Thr)
n.9965T>A
c.*5577T>A (n.*5577T>A)
c.9820T>A (p.Ser3274Thr)
c.9892T>A (p.Ser3298Thr)
c.9817T>A (p.Ser3273Thr)
c.9517T>A (p.Ser3173Thr)
c.6781T>A (p.Ser2261Thr)
c.5674T>A (p.Ser1892Thr)
c.9700T>A (p.Ser3234Thr)
c.5452T>A (p.Ser1818Thr)
c.8680T>A (p.Ser2894Thr)
 dbSNP
8g.99835616T>CCA371784109VPS13Bc.9895T>C (p.Ser3299Pro)
n.9965T>C
c.*5577T>C (n.*5577T>C)
c.9820T>C (p.Ser3274Pro)
c.9892T>C (p.Ser3298Pro)
c.9817T>C (p.Ser3273Pro)
c.9517T>C (p.Ser3173Pro)
c.6781T>C (p.Ser2261Pro)
c.5674T>C (p.Ser1892Pro)
c.9700T>C (p.Ser3234Pro)
c.5452T>C (p.Ser1818Pro)
c.8680T>C (p.Ser2894Pro)
8g.99835616T>GCA371784112VPS13Bc.9895T>G (p.Ser3299Ala)
n.9965T>G
c.*5577T>G (n.*5577T>G)
c.9820T>G (p.Ser3274Ala)
c.9892T>G (p.Ser3298Ala)
c.9817T>G (p.Ser3273Ala)
c.9517T>G (p.Ser3173Ala)
c.6781T>G (p.Ser2261Ala)
c.5674T>G (p.Ser1892Ala)
c.9700T>G (p.Ser3234Ala)
c.5452T>G (p.Ser1818Ala)
c.8680T>G (p.Ser2894Ala)
8g.99835617C>ACA371784120VPS13Bc.9896C>A (p.Ser3299Tyr)
n.9966C>A
c.*5578C>A (n.*5578C>A)
c.9821C>A (p.Ser3274Tyr)
c.9893C>A (p.Ser3298Tyr)
c.9818C>A (p.Ser3273Tyr)
c.9518C>A (p.Ser3173Tyr)
c.6782C>A (p.Ser2261Tyr)
c.5675C>A (p.Ser1892Tyr)
c.9701C>A (p.Ser3234Tyr)
c.5453C>A (p.Ser1818Tyr)
c.8681C>A (p.Ser2894Tyr)
 gnomAD v4
8g.99835617C>GCA4824807VPS13Bc.9896C>G (p.Ser3299Cys)
n.9966C>G
c.*5578C>G (n.*5578C>G)
c.9821C>G (p.Ser3274Cys)
c.9893C>G (p.Ser3298Cys)
c.9818C>G (p.Ser3273Cys)
c.9518C>G (p.Ser3173Cys)
c.6782C>G (p.Ser2261Cys)
c.5675C>G (p.Ser1892Cys)
c.9701C>G (p.Ser3234Cys)
c.5453C>G (p.Ser1818Cys)
c.8681C>G (p.Ser2894Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835617C>TCA371784123VPS13Bc.9896C>T (p.Ser3299Phe)
n.9966C>T
c.*5578C>T (n.*5578C>T)
c.9821C>T (p.Ser3274Phe)
c.9893C>T (p.Ser3298Phe)
c.9818C>T (p.Ser3273Phe)
c.9518C>T (p.Ser3173Phe)
c.6782C>T (p.Ser2261Phe)
c.5675C>T (p.Ser1892Phe)
c.9701C>T (p.Ser3234Phe)
c.5453C>T (p.Ser1818Phe)
c.8681C>T (p.Ser2894Phe)
8g.99835618C>ACA462340801VPS13Bc.9897C>A (p.Ser3299=)
n.9967C>A
c.*5579C>A (n.*5579C>A)
c.9822C>A (p.Ser3274=)
c.9894C>A (p.Ser3298=)
c.9819C>A (p.Ser3273=)
c.9519C>A (p.Ser3173=)
c.6783C>A (p.Ser2261=)
c.5676C>A (p.Ser1892=)
c.9702C>A (p.Ser3234=)
c.5454C>A (p.Ser1818=)
c.8682C>A (p.Ser2894=)
8g.99835618C>GCA462340802VPS13Bc.9897C>G (p.Ser3299=)
n.9967C>G
c.*5579C>G (n.*5579C>G)
c.9822C>G (p.Ser3274=)
c.9894C>G (p.Ser3298=)
c.9819C>G (p.Ser3273=)
c.9519C>G (p.Ser3173=)
c.6783C>G (p.Ser2261=)
c.5676C>G (p.Ser1892=)
c.9702C>G (p.Ser3234=)
c.5454C>G (p.Ser1818=)
c.8682C>G (p.Ser2894=)
8g.99835618C>TCA462340803VPS13Bc.9897C>T (p.Ser3299=)
n.9967C>T
c.*5579C>T (n.*5579C>T)
c.9822C>T (p.Ser3274=)
c.9894C>T (p.Ser3298=)
c.9819C>T (p.Ser3273=)
c.9519C>T (p.Ser3173=)
c.6783C>T (p.Ser2261=)
c.5676C>T (p.Ser1892=)
c.9702C>T (p.Ser3234=)
c.5454C>T (p.Ser1818=)
c.8682C>T (p.Ser2894=)
 ClinVar dbSNP gnomAD v4
8g.99835619A>CCA371784134VPS13Bc.9898A>C (p.Ser3300Arg)
n.9968A>C
c.*5580A>C (n.*5580A>C)
c.9823A>C (p.Ser3275Arg)
c.9895A>C (p.Ser3299Arg)
c.9820A>C (p.Ser3274Arg)
c.9520A>C (p.Ser3174Arg)
c.6784A>C (p.Ser2262Arg)
c.5677A>C (p.Ser1893Arg)
c.9703A>C (p.Ser3235Arg)
c.5455A>C (p.Ser1819Arg)
c.8683A>C (p.Ser2895Arg)
8g.99835619A>GCA371784124VPS13Bc.9898A>G (p.Ser3300Gly)
n.9968A>G
c.*5580A>G (n.*5580A>G)
c.9823A>G (p.Ser3275Gly)
c.9895A>G (p.Ser3299Gly)
c.9820A>G (p.Ser3274Gly)
c.9520A>G (p.Ser3174Gly)
c.6784A>G (p.Ser2262Gly)
c.5677A>G (p.Ser1893Gly)
c.9703A>G (p.Ser3235Gly)
c.5455A>G (p.Ser1819Gly)
c.8683A>G (p.Ser2895Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.99835619A>TCA371784127VPS13Bc.9898A>T (p.Ser3300Cys)
n.9968A>T
c.*5580A>T (n.*5580A>T)
c.9823A>T (p.Ser3275Cys)
c.9895A>T (p.Ser3299Cys)
c.9820A>T (p.Ser3274Cys)
c.9520A>T (p.Ser3174Cys)
c.6784A>T (p.Ser2262Cys)
c.5677A>T (p.Ser1893Cys)
c.9703A>T (p.Ser3235Cys)
c.5455A>T (p.Ser1819Cys)
c.8683A>T (p.Ser2895Cys)
8g.99835620G>ACA371784139VPS13Bc.9899G>A (p.Ser3300Asn)
n.9969G>A
c.*5581G>A (n.*5581G>A)
c.9824G>A (p.Ser3275Asn)
c.9896G>A (p.Ser3299Asn)
c.9821G>A (p.Ser3274Asn)
c.9521G>A (p.Ser3174Asn)
c.6785G>A (p.Ser2262Asn)
c.5678G>A (p.Ser1893Asn)
c.9704G>A (p.Ser3235Asn)
c.5456G>A (p.Ser1819Asn)
c.8684G>A (p.Ser2895Asn)
8g.99835620G>CCA371784140VPS13Bc.9899G>C (p.Ser3300Thr)
n.9969G>C
c.*5581G>C (n.*5581G>C)
c.9824G>C (p.Ser3275Thr)
c.9896G>C (p.Ser3299Thr)
c.9821G>C (p.Ser3274Thr)
c.9521G>C (p.Ser3174Thr)
c.6785G>C (p.Ser2262Thr)
c.5678G>C (p.Ser1893Thr)
c.9704G>C (p.Ser3235Thr)
c.5456G>C (p.Ser1819Thr)
c.8684G>C (p.Ser2895Thr)
8g.99835620G>TCA371784147VPS13Bc.9899G>T (p.Ser3300Ile)
n.9969G>T
c.*5581G>T (n.*5581G>T)
c.9824G>T (p.Ser3275Ile)
c.9896G>T (p.Ser3299Ile)
c.9821G>T (p.Ser3274Ile)
c.9521G>T (p.Ser3174Ile)
c.6785G>T (p.Ser2262Ile)
c.5678G>T (p.Ser1893Ile)
c.9704G>T (p.Ser3235Ile)
c.5456G>T (p.Ser1819Ile)
c.8684G>T (p.Ser2895Ile)
 ClinVar dbSNP
8g.99835621T>ACA371784151VPS13Bc.9900T>A (p.Ser3300Arg)
n.9970T>A
c.*5582T>A (n.*5582T>A)
c.9825T>A (p.Ser3275Arg)
c.9897T>A (p.Ser3299Arg)
c.9822T>A (p.Ser3274Arg)
c.9522T>A (p.Ser3174Arg)
c.6786T>A (p.Ser2262Arg)
c.5679T>A (p.Ser1893Arg)
c.9705T>A (p.Ser3235Arg)
c.5457T>A (p.Ser1819Arg)
c.8685T>A (p.Ser2895Arg)
8g.99835621T>CCA462340809VPS13Bc.9900T>C (p.Ser3300=)
n.9970T>C
c.*5582T>C (n.*5582T>C)
c.9825T>C (p.Ser3275=)
c.9897T>C (p.Ser3299=)
c.9822T>C (p.Ser3274=)
c.9522T>C (p.Ser3174=)
c.6786T>C (p.Ser2262=)
c.5679T>C (p.Ser1893=)
c.9705T>C (p.Ser3235=)
c.5457T>C (p.Ser1819=)
c.8685T>C (p.Ser2895=)
 gnomAD v4
8g.99835621T>GCA371784156VPS13Bc.9900T>G (p.Ser3300Arg)
n.9970T>G
c.*5582T>G (n.*5582T>G)
c.9825T>G (p.Ser3275Arg)
c.9897T>G (p.Ser3299Arg)
c.9822T>G (p.Ser3274Arg)
c.9522T>G (p.Ser3174Arg)
c.6786T>G (p.Ser2262Arg)
c.5679T>G (p.Ser1893Arg)
c.9705T>G (p.Ser3235Arg)
c.5457T>G (p.Ser1819Arg)
c.8685T>G (p.Ser2895Arg)
8g.99835622T>ACA371784158VPS13Bc.9901T>A (p.Tyr3301Asn)
n.9971T>A
c.*5583T>A (n.*5583T>A)
c.9826T>A (p.Tyr3276Asn)
c.9898T>A (p.Tyr3300Asn)
c.9823T>A (p.Tyr3275Asn)
c.9523T>A (p.Tyr3175Asn)
c.6787T>A (p.Tyr2263Asn)
c.5680T>A (p.Tyr1894Asn)
c.9706T>A (p.Tyr3236Asn)
c.5458T>A (p.Tyr1820Asn)
c.8686T>A (p.Tyr2896Asn)
8g.99835622T>CCA371784162VPS13Bc.9901T>C (p.Tyr3301His)
n.9971T>C
c.*5583T>C (n.*5583T>C)
c.9826T>C (p.Tyr3276His)
c.9898T>C (p.Tyr3300His)
c.9823T>C (p.Tyr3275His)
c.9523T>C (p.Tyr3175His)
c.6787T>C (p.Tyr2263His)
c.5680T>C (p.Tyr1894His)
c.9706T>C (p.Tyr3236His)
c.5458T>C (p.Tyr1820His)
c.8686T>C (p.Tyr2896His)
8g.99835622T>GCA371784160VPS13Bc.9901T>G (p.Tyr3301Asp)
n.9971T>G
c.*5583T>G (n.*5583T>G)
c.9826T>G (p.Tyr3276Asp)
c.9898T>G (p.Tyr3300Asp)
c.9823T>G (p.Tyr3275Asp)
c.9523T>G (p.Tyr3175Asp)
c.6787T>G (p.Tyr2263Asp)
c.5680T>G (p.Tyr1894Asp)
c.9706T>G (p.Tyr3236Asp)
c.5458T>G (p.Tyr1820Asp)
c.8686T>G (p.Tyr2896Asp)
8g.99835623A>CCA371784168VPS13Bc.9902A>C (p.Tyr3301Ser)
n.9972A>C
c.*5584A>C (n.*5584A>C)
c.9827A>C (p.Tyr3276Ser)
c.9899A>C (p.Tyr3300Ser)
c.9824A>C (p.Tyr3275Ser)
c.9524A>C (p.Tyr3175Ser)
c.6788A>C (p.Tyr2263Ser)
c.5681A>C (p.Tyr1894Ser)
c.9707A>C (p.Tyr3236Ser)
c.5459A>C (p.Tyr1820Ser)
c.8687A>C (p.Tyr2896Ser)
8g.99835623A>GCA4824808VPS13Bc.9902A>G (p.Tyr3301Cys)
n.9972A>G
c.*5584A>G (n.*5584A>G)
c.9827A>G (p.Tyr3276Cys)
c.9899A>G (p.Tyr3300Cys)
c.9824A>G (p.Tyr3275Cys)
c.9524A>G (p.Tyr3175Cys)
c.6788A>G (p.Tyr2263Cys)
c.5681A>G (p.Tyr1894Cys)
c.9707A>G (p.Tyr3236Cys)
c.5459A>G (p.Tyr1820Cys)
c.8687A>G (p.Tyr2896Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835623A>TCA371784169VPS13Bc.9902A>T (p.Tyr3301Phe)
n.9972A>T
c.*5584A>T (n.*5584A>T)
c.9827A>T (p.Tyr3276Phe)
c.9899A>T (p.Tyr3300Phe)
c.9824A>T (p.Tyr3275Phe)
c.9524A>T (p.Tyr3175Phe)
c.6788A>T (p.Tyr2263Phe)
c.5681A>T (p.Tyr1894Phe)
c.9707A>T (p.Tyr3236Phe)
c.5459A>T (p.Tyr1820Phe)
c.8687A>T (p.Tyr2896Phe)
 ClinVar dbSNP
8g.99835624T>ACA371784170VPS13Bc.9903T>A (p.Tyr3301Ter)
n.9973T>A
c.*5585T>A (n.*5585T>A)
c.9828T>A (p.Tyr3276Ter)
c.9900T>A (p.Tyr3300Ter)
c.9825T>A (p.Tyr3275Ter)
c.9525T>A (p.Tyr3175Ter)
c.6789T>A (p.Tyr2263Ter)
c.5682T>A (p.Tyr1894Ter)
c.9708T>A (p.Tyr3236Ter)
c.5460T>A (p.Tyr1820Ter)
c.8688T>A (p.Tyr2896Ter)
8g.99835624T>CCA462340819VPS13Bc.9903T>C (p.Tyr3301=)
n.9973T>C
c.*5585T>C (n.*5585T>C)
c.9828T>C (p.Tyr3276=)
c.9900T>C (p.Tyr3300=)
c.9825T>C (p.Tyr3275=)
c.9525T>C (p.Tyr3175=)
c.6789T>C (p.Tyr2263=)
c.5682T>C (p.Tyr1894=)
c.9708T>C (p.Tyr3236=)
c.5460T>C (p.Tyr1820=)
c.8688T>C (p.Tyr2896=)
 ClinVar
8g.99835624T>GCA371784171VPS13Bc.9903T>G (p.Tyr3301Ter)
n.9973T>G
c.*5585T>G (n.*5585T>G)
c.9828T>G (p.Tyr3276Ter)
c.9900T>G (p.Tyr3300Ter)
c.9825T>G (p.Tyr3275Ter)
c.9525T>G (p.Tyr3175Ter)
c.6789T>G (p.Tyr2263Ter)
c.5682T>G (p.Tyr1894Ter)
c.9708T>G (p.Tyr3236Ter)
c.5460T>G (p.Tyr1820Ter)
c.8688T>G (p.Tyr2896Ter)
8g.99835625C>ACA371784172VPS13Bc.9904C>A (p.Pro3302Thr)
n.9974C>A
c.*5586C>A (n.*5586C>A)
c.9829C>A (p.Pro3277Thr)
c.9901C>A (p.Pro3301Thr)
c.9826C>A (p.Pro3276Thr)
c.9526C>A (p.Pro3176Thr)
c.6790C>A (p.Pro2264Thr)
c.5683C>A (p.Pro1895Thr)
c.9709C>A (p.Pro3237Thr)
c.5461C>A (p.Pro1821Thr)
c.8689C>A (p.Pro2897Thr)
8g.99835625C>GCA371784173VPS13Bc.9904C>G (p.Pro3302Ala)
n.9974C>G
c.*5586C>G (n.*5586C>G)
c.9829C>G (p.Pro3277Ala)
c.9901C>G (p.Pro3301Ala)
c.9826C>G (p.Pro3276Ala)
c.9526C>G (p.Pro3176Ala)
c.6790C>G (p.Pro2264Ala)
c.5683C>G (p.Pro1895Ala)
c.9709C>G (p.Pro3237Ala)
c.5461C>G (p.Pro1821Ala)
c.8689C>G (p.Pro2897Ala)
8g.99835625C>TCA371784175VPS13Bc.9904C>T (p.Pro3302Ser)
n.9974C>T
c.*5586C>T (n.*5586C>T)
c.9829C>T (p.Pro3277Ser)
c.9901C>T (p.Pro3301Ser)
c.9826C>T (p.Pro3276Ser)
c.9526C>T (p.Pro3176Ser)
c.6790C>T (p.Pro2264Ser)
c.5683C>T (p.Pro1895Ser)
c.9709C>T (p.Pro3237Ser)
c.5461C>T (p.Pro1821Ser)
c.8689C>T (p.Pro2897Ser)
8g.99835626delCA16041266VPS13Bc.9905del (p.Pro3302ArgfsTer14)
n.9975del
c.*5587del (n.*5587del)
c.9830del (p.Pro3277ArgfsTer14)
c.9902del (p.Pro3301ArgfsTer14)
c.9827del (p.Pro3276ArgfsTer14)
c.9527del (p.Pro3176ArgfsTer14)
c.6791del (p.Pro2264ArgfsTer14)
c.5684del (p.Pro1895ArgfsTer14)
c.9710del (p.Pro3237ArgfsTer14)
c.5462del (p.Pro1821ArgfsTer14)
c.8690del (p.Pro2897ArgfsTer14)
 ClinVar dbSNP
8g.99835626C>ACA371784180VPS13Bc.9905C>A (p.Pro3302Gln)
n.9975C>A
c.*5587C>A (n.*5587C>A)
c.9830C>A (p.Pro3277Gln)
c.9902C>A (p.Pro3301Gln)
c.9827C>A (p.Pro3276Gln)
c.9527C>A (p.Pro3176Gln)
c.6791C>A (p.Pro2264Gln)
c.5684C>A (p.Pro1895Gln)
c.9710C>A (p.Pro3237Gln)
c.5462C>A (p.Pro1821Gln)
c.8690C>A (p.Pro2897Gln)
8g.99835626C>GCA371784187VPS13Bc.9905C>G (p.Pro3302Arg)
n.9975C>G
c.*5587C>G (n.*5587C>G)
c.9830C>G (p.Pro3277Arg)
c.9902C>G (p.Pro3301Arg)
c.9827C>G (p.Pro3276Arg)
c.9527C>G (p.Pro3176Arg)
c.6791C>G (p.Pro2264Arg)
c.5684C>G (p.Pro1895Arg)
c.9710C>G (p.Pro3237Arg)
c.5462C>G (p.Pro1821Arg)
c.8690C>G (p.Pro2897Arg)
8g.99835626C>TCA4824809VPS13Bc.9905C>T (p.Pro3302Leu)
n.9975C>T
c.*5587C>T (n.*5587C>T)
c.9830C>T (p.Pro3277Leu)
c.9902C>T (p.Pro3301Leu)
c.9827C>T (p.Pro3276Leu)
c.9527C>T (p.Pro3176Leu)
c.6791C>T (p.Pro2264Leu)
c.5684C>T (p.Pro1895Leu)
c.9710C>T (p.Pro3237Leu)
c.5462C>T (p.Pro1821Leu)
c.8690C>T (p.Pro2897Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835627G>ACA4824810VPS13Bc.9906G>A (p.Pro3302=)
n.9976G>A
c.*5588G>A (n.*5588G>A)
c.9831G>A (p.Pro3277=)
c.9903G>A (p.Pro3301=)
c.9828G>A (p.Pro3276=)
c.9528G>A (p.Pro3176=)
c.6792G>A (p.Pro2264=)
c.5685G>A (p.Pro1895=)
c.9711G>A (p.Pro3237=)
c.5463G>A (p.Pro1821=)
c.8691G>A (p.Pro2897=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835627G>CCA462340827VPS13Bc.9906G>C (p.Pro3302=)
n.9976G>C
c.*5588G>C (n.*5588G>C)
c.9831G>C (p.Pro3277=)
c.9903G>C (p.Pro3301=)
c.9828G>C (p.Pro3276=)
c.9528G>C (p.Pro3176=)
c.6792G>C (p.Pro2264=)
c.5685G>C (p.Pro1895=)
c.9711G>C (p.Pro3237=)
c.5463G>C (p.Pro1821=)
c.8691G>C (p.Pro2897=)
8g.99835627G>TCA462340828VPS13Bc.9906G>T (p.Pro3302=)
n.9976G>T
c.*5588G>T (n.*5588G>T)
c.9831G>T (p.Pro3277=)
c.9903G>T (p.Pro3301=)
c.9828G>T (p.Pro3276=)
c.9528G>T (p.Pro3176=)
c.6792G>T (p.Pro2264=)
c.5685G>T (p.Pro1895=)
c.9711G>T (p.Pro3237=)
c.5463G>T (p.Pro1821=)
c.8691G>T (p.Pro2897=)
8g.99835628G>ACA371784193VPS13Bc.9907G>A (p.Asp3303Asn)
n.9977G>A
c.*5589G>A (n.*5589G>A)
c.9832G>A (p.Asp3278Asn)
c.9904G>A (p.Asp3302Asn)
c.9829G>A (p.Asp3277Asn)
c.9529G>A (p.Asp3177Asn)
c.6793G>A (p.Asp2265Asn)
c.5686G>A (p.Asp1896Asn)
c.9712G>A (p.Asp3238Asn)
c.5464G>A (p.Asp1822Asn)
c.8692G>A (p.Asp2898Asn)
 COSMIC COSMIC
8g.99835628G>CCA371784190VPS13Bc.9907G>C (p.Asp3303His)
n.9977G>C
c.*5589G>C (n.*5589G>C)
c.9832G>C (p.Asp3278His)
c.9904G>C (p.Asp3302His)
c.9829G>C (p.Asp3277His)
c.9529G>C (p.Asp3177His)
c.6793G>C (p.Asp2265His)
c.5686G>C (p.Asp1896His)
c.9712G>C (p.Asp3238His)
c.5464G>C (p.Asp1822His)
c.8692G>C (p.Asp2898His)
 ClinVar
8g.99835628G>TCA371784192VPS13Bc.9907G>T (p.Asp3303Tyr)
n.9977G>T
c.*5589G>T (n.*5589G>T)
c.9832G>T (p.Asp3278Tyr)
c.9904G>T (p.Asp3302Tyr)
c.9829G>T (p.Asp3277Tyr)
c.9529G>T (p.Asp3177Tyr)
c.6793G>T (p.Asp2265Tyr)
c.5686G>T (p.Asp1896Tyr)
c.9712G>T (p.Asp3238Tyr)
c.5464G>T (p.Asp1822Tyr)
c.8692G>T (p.Asp2898Tyr)
8g.99835629A>CCA371784195VPS13Bc.9908A>C (p.Asp3303Ala)
n.9978A>C
c.*5590A>C (n.*5590A>C)
c.9833A>C (p.Asp3278Ala)
c.9905A>C (p.Asp3302Ala)
c.9830A>C (p.Asp3277Ala)
c.9530A>C (p.Asp3177Ala)
c.6794A>C (p.Asp2265Ala)
c.5687A>C (p.Asp1896Ala)
c.9713A>C (p.Asp3238Ala)
c.5465A>C (p.Asp1822Ala)
c.8693A>C (p.Asp2898Ala)
8g.99835629A>GCA371784199VPS13Bc.9908A>G (p.Asp3303Gly)
n.9978A>G
c.*5590A>G (n.*5590A>G)
c.9833A>G (p.Asp3278Gly)
c.9905A>G (p.Asp3302Gly)
c.9830A>G (p.Asp3277Gly)
c.9530A>G (p.Asp3177Gly)
c.6794A>G (p.Asp2265Gly)
c.5687A>G (p.Asp1896Gly)
c.9713A>G (p.Asp3238Gly)
c.5465A>G (p.Asp1822Gly)
c.8693A>G (p.Asp2898Gly)
8g.99835629A>TCA371784201VPS13Bc.9908A>T (p.Asp3303Val)
n.9978A>T
c.*5590A>T (n.*5590A>T)
c.9833A>T (p.Asp3278Val)
c.9905A>T (p.Asp3302Val)
c.9830A>T (p.Asp3277Val)
c.9530A>T (p.Asp3177Val)
c.6794A>T (p.Asp2265Val)
c.5687A>T (p.Asp1896Val)
c.9713A>T (p.Asp3238Val)
c.5465A>T (p.Asp1822Val)
c.8693A>T (p.Asp2898Val)
8g.99835630C>ACA371784203VPS13Bc.9909C>A (p.Asp3303Glu)
n.9979C>A
c.*5591C>A (n.*5591C>A)
c.9834C>A (p.Asp3278Glu)
c.9906C>A (p.Asp3302Glu)
c.9831C>A (p.Asp3277Glu)
c.9531C>A (p.Asp3177Glu)
c.6795C>A (p.Asp2265Glu)
c.5688C>A (p.Asp1896Glu)
c.9714C>A (p.Asp3238Glu)
c.5466C>A (p.Asp1822Glu)
c.8694C>A (p.Asp2898Glu)
8g.99835630C>GCA371784204VPS13Bc.9909C>G (p.Asp3303Glu)
n.9979C>G
c.*5591C>G (n.*5591C>G)
c.9834C>G (p.Asp3278Glu)
c.9906C>G (p.Asp3302Glu)
c.9831C>G (p.Asp3277Glu)
c.9531C>G (p.Asp3177Glu)
c.6795C>G (p.Asp2265Glu)
c.5688C>G (p.Asp1896Glu)
c.9714C>G (p.Asp3238Glu)
c.5466C>G (p.Asp1822Glu)
c.8694C>G (p.Asp2898Glu)
8g.99835630C>TCA462340834VPS13Bc.9909C>T (p.Asp3303=)
n.9979C>T
c.*5591C>T (n.*5591C>T)
c.9834C>T (p.Asp3278=)
c.9906C>T (p.Asp3302=)
c.9831C>T (p.Asp3277=)
c.9531C>T (p.Asp3177=)
c.6795C>T (p.Asp2265=)
c.5688C>T (p.Asp1896=)
c.9714C>T (p.Asp3238=)
c.5466C>T (p.Asp1822=)
c.8694C>T (p.Asp2898=)
 gnomAD v4
8g.99835631T>ACA371784206VPS13Bc.9910T>A (p.Cys3304Ser)
n.9980T>A
c.*5592T>A (n.*5592T>A)
c.9835T>A (p.Cys3279Ser)
c.9907T>A (p.Cys3303Ser)
c.9832T>A (p.Cys3278Ser)
c.9532T>A (p.Cys3178Ser)
c.6796T>A (p.Cys2266Ser)
c.5689T>A (p.Cys1897Ser)
c.9715T>A (p.Cys3239Ser)
c.5467T>A (p.Cys1823Ser)
c.8695T>A (p.Cys2899Ser)
8g.99835631T>CCA371784214VPS13Bc.9910T>C (p.Cys3304Arg)
n.9980T>C
c.*5592T>C (n.*5592T>C)
c.9835T>C (p.Cys3279Arg)
c.9907T>C (p.Cys3303Arg)
c.9832T>C (p.Cys3278Arg)
c.9532T>C (p.Cys3178Arg)
c.6796T>C (p.Cys2266Arg)
c.5689T>C (p.Cys1897Arg)
c.9715T>C (p.Cys3239Arg)
c.5467T>C (p.Cys1823Arg)
c.8695T>C (p.Cys2899Arg)
8g.99835631T>GCA371784215VPS13Bc.9910T>G (p.Cys3304Gly)
n.9980T>G
c.*5592T>G (n.*5592T>G)
c.9835T>G (p.Cys3279Gly)
c.9907T>G (p.Cys3303Gly)
c.9832T>G (p.Cys3278Gly)
c.9532T>G (p.Cys3178Gly)
c.6796T>G (p.Cys2266Gly)
c.5689T>G (p.Cys1897Gly)
c.9715T>G (p.Cys3239Gly)
c.5467T>G (p.Cys1823Gly)
c.8695T>G (p.Cys2899Gly)
8g.99835632G>ACA371784217VPS13Bc.9911G>A (p.Cys3304Tyr)
n.9981G>A
c.*5593G>A (n.*5593G>A)
c.9836G>A (p.Cys3279Tyr)
c.9908G>A (p.Cys3303Tyr)
c.9833G>A (p.Cys3278Tyr)
c.9533G>A (p.Cys3178Tyr)
c.6797G>A (p.Cys2266Tyr)
c.5690G>A (p.Cys1897Tyr)
c.9716G>A (p.Cys3239Tyr)
c.5468G>A (p.Cys1823Tyr)
c.8696G>A (p.Cys2899Tyr)
 dbSNP
8g.99835632G>CCA371784220VPS13Bc.9911G>C (p.Cys3304Ser)
n.9981G>C
c.*5593G>C (n.*5593G>C)
c.9836G>C (p.Cys3279Ser)
c.9908G>C (p.Cys3303Ser)
c.9833G>C (p.Cys3278Ser)
c.9533G>C (p.Cys3178Ser)
c.6797G>C (p.Cys2266Ser)
c.5690G>C (p.Cys1897Ser)
c.9716G>C (p.Cys3239Ser)
c.5468G>C (p.Cys1823Ser)
c.8696G>C (p.Cys2899Ser)
8g.99835632G>TCA371784224VPS13Bc.9911G>T (p.Cys3304Phe)
n.9981G>T
c.*5593G>T (n.*5593G>T)
c.9836G>T (p.Cys3279Phe)
c.9908G>T (p.Cys3303Phe)
c.9833G>T (p.Cys3278Phe)
c.9533G>T (p.Cys3178Phe)
c.6797G>T (p.Cys2266Phe)
c.5690G>T (p.Cys1897Phe)
c.9716G>T (p.Cys3239Phe)
c.5468G>T (p.Cys1823Phe)
c.8696G>T (p.Cys2899Phe)
8g.99835632_99835634delCA2781479884VPS13Bc.9911_9913del (p.Cys3304Ter)
n.9981_9983del
c.*5593_*5595del (n.*5593_*5595del)
c.9836_9838del (p.Cys3279Ter)
c.9908_9910del (p.Cys3303Ter)
c.9833_9835del (p.Cys3278Ter)
c.9533_9535del (p.Cys3178Ter)
c.6797_6799del (p.Cys2266Ter)
c.5690_5692del (p.Cys1897Ter)
c.9716_9718del (p.Cys3239Ter)
c.5468_5470del (p.Cys1823Ter)
c.8696_8698del (p.Cys2899Ter)
8g.99835633C>ACA371784234VPS13Bc.9912C>A (p.Cys3304Ter)
n.9982C>A
c.*5594C>A (n.*5594C>A)
c.9837C>A (p.Cys3279Ter)
c.9909C>A (p.Cys3303Ter)
c.9834C>A (p.Cys3278Ter)
c.9534C>A (p.Cys3178Ter)
c.6798C>A (p.Cys2266Ter)
c.5691C>A (p.Cys1897Ter)
c.9717C>A (p.Cys3239Ter)
c.5469C>A (p.Cys1823Ter)
c.8697C>A (p.Cys2899Ter)
8g.99835633C>GCA371784226VPS13Bc.9912C>G (p.Cys3304Trp)
n.9982C>G
c.*5594C>G (n.*5594C>G)
c.9837C>G (p.Cys3279Trp)
c.9909C>G (p.Cys3303Trp)
c.9834C>G (p.Cys3278Trp)
c.9534C>G (p.Cys3178Trp)
c.6798C>G (p.Cys2266Trp)
c.5691C>G (p.Cys1897Trp)
c.9717C>G (p.Cys3239Trp)
c.5469C>G (p.Cys1823Trp)
c.8697C>G (p.Cys2899Trp)
8g.99835633C>TCA462340843VPS13Bc.9912C>T (p.Cys3304=)
n.9982C>T
c.*5594C>T (n.*5594C>T)
c.9837C>T (p.Cys3279=)
c.9909C>T (p.Cys3303=)
c.9834C>T (p.Cys3278=)
c.9534C>T (p.Cys3178=)
c.6798C>T (p.Cys2266=)
c.5691C>T (p.Cys1897=)
c.9717C>T (p.Cys3239=)
c.5469C>T (p.Cys1823=)
c.8697C>T (p.Cys2899=)
8g.99835634A>CCA371784237VPS13Bc.9913A>C (p.Lys3305Gln)
n.9983A>C
c.*5595A>C (n.*5595A>C)
c.9838A>C (p.Lys3280Gln)
c.9910A>C (p.Lys3304Gln)
c.9835A>C (p.Lys3279Gln)
c.9535A>C (p.Lys3179Gln)
c.6799A>C (p.Lys2267Gln)
c.5692A>C (p.Lys1898Gln)
c.9718A>C (p.Lys3240Gln)
c.5470A>C (p.Lys1824Gln)
c.8698A>C (p.Lys2900Gln)
8g.99835634A>GCA371784240VPS13Bc.9913A>G (p.Lys3305Glu)
n.9983A>G
c.*5595A>G (n.*5595A>G)
c.9838A>G (p.Lys3280Glu)
c.9910A>G (p.Lys3304Glu)
c.9835A>G (p.Lys3279Glu)
c.9535A>G (p.Lys3179Glu)
c.6799A>G (p.Lys2267Glu)
c.5692A>G (p.Lys1898Glu)
c.9718A>G (p.Lys3240Glu)
c.5470A>G (p.Lys1824Glu)
c.8698A>G (p.Lys2900Glu)
 gnomAD v4
8g.99835634A>TCA371784242VPS13Bc.9913A>T (p.Lys3305Ter)
n.9983A>T
c.*5595A>T (n.*5595A>T)
c.9838A>T (p.Lys3280Ter)
c.9910A>T (p.Lys3304Ter)
c.9835A>T (p.Lys3279Ter)
c.9535A>T (p.Lys3179Ter)
c.6799A>T (p.Lys2267Ter)
c.5692A>T (p.Lys1898Ter)
c.9718A>T (p.Lys3240Ter)
c.5470A>T (p.Lys1824Ter)
c.8698A>T (p.Lys2900Ter)
8g.99835635A>CCA371784246VPS13Bc.9914A>C (p.Lys3305Thr)
n.9984A>C
c.*5596A>C (n.*5596A>C)
c.9839A>C (p.Lys3280Thr)
c.9911A>C (p.Lys3304Thr)
c.9836A>C (p.Lys3279Thr)
c.9536A>C (p.Lys3179Thr)
c.6800A>C (p.Lys2267Thr)
c.5693A>C (p.Lys1898Thr)
c.9719A>C (p.Lys3240Thr)
c.5471A>C (p.Lys1824Thr)
c.8699A>C (p.Lys2900Thr)
8g.99835635A>GCA4824811VPS13Bc.9914A>G (p.Lys3305Arg)
n.9984A>G
c.*5596A>G (n.*5596A>G)
c.9839A>G (p.Lys3280Arg)
c.9911A>G (p.Lys3304Arg)
c.9836A>G (p.Lys3279Arg)
c.9536A>G (p.Lys3179Arg)
c.6800A>G (p.Lys2267Arg)
c.5693A>G (p.Lys1898Arg)
c.9719A>G (p.Lys3240Arg)
c.5471A>G (p.Lys1824Arg)
c.8699A>G (p.Lys2900Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835635A>TCA371784256VPS13Bc.9914A>T (p.Lys3305Met)
n.9984A>T
c.*5596A>T (n.*5596A>T)
c.9839A>T (p.Lys3280Met)
c.9911A>T (p.Lys3304Met)
c.9836A>T (p.Lys3279Met)
c.9536A>T (p.Lys3179Met)
c.6800A>T (p.Lys2267Met)
c.5693A>T (p.Lys1898Met)
c.9719A>T (p.Lys3240Met)
c.5471A>T (p.Lys1824Met)
c.8699A>T (p.Lys2900Met)
8g.99835636G>ACA182339701VPS13Bc.9915G>A (p.Lys3305=)
n.9985G>A
c.*5597G>A (n.*5597G>A)
c.9840G>A (p.Lys3280=)
c.9912G>A (p.Lys3304=)
c.9837G>A (p.Lys3279=)
c.9537G>A (p.Lys3179=)
c.6801G>A (p.Lys2267=)
c.5694G>A (p.Lys1898=)
c.9720G>A (p.Lys3240=)
c.5472G>A (p.Lys1824=)
c.8700G>A (p.Lys2900=)
 dbSNP gnomAD v4
8g.99835636G>CCA4824812VPS13Bc.9915G>C (p.Lys3305Asn)
n.9985G>C
c.*5597G>C (n.*5597G>C)
c.9840G>C (p.Lys3280Asn)
c.9912G>C (p.Lys3304Asn)
c.9837G>C (p.Lys3279Asn)
c.9537G>C (p.Lys3179Asn)
c.6801G>C (p.Lys2267Asn)
c.5694G>C (p.Lys1898Asn)
c.9720G>C (p.Lys3240Asn)
c.5472G>C (p.Lys1824Asn)
c.8700G>C (p.Lys2900Asn)
 dbSNP ExAC gnomAD v2
8g.99835636G>TCA371784263VPS13Bc.9915G>T (p.Lys3305Asn)
n.9985G>T
c.*5597G>T (n.*5597G>T)
c.9840G>T (p.Lys3280Asn)
c.9912G>T (p.Lys3304Asn)
c.9837G>T (p.Lys3279Asn)
c.9537G>T (p.Lys3179Asn)
c.6801G>T (p.Lys2267Asn)
c.5694G>T (p.Lys1898Asn)
c.9720G>T (p.Lys3240Asn)
c.5472G>T (p.Lys1824Asn)
c.8700G>T (p.Lys2900Asn)
8g.99835637A>CCA371784270VPS13Bc.9916A>C (p.Thr3306Pro)
n.9986A>C
c.*5598A>C (n.*5598A>C)
c.9841A>C (p.Thr3281Pro)
c.9913A>C (p.Thr3305Pro)
c.9838A>C (p.Thr3280Pro)
c.9538A>C (p.Thr3180Pro)
c.6802A>C (p.Thr2268Pro)
c.5695A>C (p.Thr1899Pro)
c.9721A>C (p.Thr3241Pro)
c.5473A>C (p.Thr1825Pro)
c.8701A>C (p.Thr2901Pro)
8g.99835637A>GCA371784273VPS13Bc.9916A>G (p.Thr3306Ala)
n.9986A>G
c.*5598A>G (n.*5598A>G)
c.9841A>G (p.Thr3281Ala)
c.9913A>G (p.Thr3305Ala)
c.9838A>G (p.Thr3280Ala)
c.9538A>G (p.Thr3180Ala)
c.6802A>G (p.Thr2268Ala)
c.5695A>G (p.Thr1899Ala)
c.9721A>G (p.Thr3241Ala)
c.5473A>G (p.Thr1825Ala)
c.8701A>G (p.Thr2901Ala)
8g.99835637A>TCA371784279VPS13Bc.9916A>T (p.Thr3306Ser)
n.9986A>T
c.*5598A>T (n.*5598A>T)
c.9841A>T (p.Thr3281Ser)
c.9913A>T (p.Thr3305Ser)
c.9838A>T (p.Thr3280Ser)
c.9538A>T (p.Thr3180Ser)
c.6802A>T (p.Thr2268Ser)
c.5695A>T (p.Thr1899Ser)
c.9721A>T (p.Thr3241Ser)
c.5473A>T (p.Thr1825Ser)
c.8701A>T (p.Thr2901Ser)
8g.99835638C>ACA371784285VPS13Bc.9917C>A (p.Thr3306Asn)
n.9987C>A
c.*5599C>A (n.*5599C>A)
c.9842C>A (p.Thr3281Asn)
c.9914C>A (p.Thr3305Asn)
c.9839C>A (p.Thr3280Asn)
c.9539C>A (p.Thr3180Asn)
c.6803C>A (p.Thr2268Asn)
c.5696C>A (p.Thr1899Asn)
c.9722C>A (p.Thr3241Asn)
c.5474C>A (p.Thr1825Asn)
c.8702C>A (p.Thr2901Asn)
8g.99835638C>GCA371784286VPS13Bc.9917C>G (p.Thr3306Ser)
n.9987C>G
c.*5599C>G (n.*5599C>G)
c.9842C>G (p.Thr3281Ser)
c.9914C>G (p.Thr3305Ser)
c.9839C>G (p.Thr3280Ser)
c.9539C>G (p.Thr3180Ser)
c.6803C>G (p.Thr2268Ser)
c.5696C>G (p.Thr1899Ser)
c.9722C>G (p.Thr3241Ser)
c.5474C>G (p.Thr1825Ser)
c.8702C>G (p.Thr2901Ser)
8g.99835638C>TCA371784288VPS13Bc.9917C>T (p.Thr3306Ile)
n.9987C>T
c.*5599C>T (n.*5599C>T)
c.9842C>T (p.Thr3281Ile)
c.9914C>T (p.Thr3305Ile)
c.9839C>T (p.Thr3280Ile)
c.9539C>T (p.Thr3180Ile)
c.6803C>T (p.Thr2268Ile)
c.5696C>T (p.Thr1899Ile)
c.9722C>T (p.Thr3241Ile)
c.5474C>T (p.Thr1825Ile)
c.8702C>T (p.Thr2901Ile)
8g.99835638_99835650delCA2781479885VPS13Bc.9917_9929del (p.Thr3306IlefsTer6)
n.9987_9999del
c.*5599_*5611del (n.*5599_*5611del)
c.9842_9854del (p.Thr3281IlefsTer6)
c.9914_9926del (p.Thr3305IlefsTer6)
c.9839_9851del (p.Thr3280IlefsTer6)
c.9539_9551del (p.Thr3180IlefsTer6)
c.6803_6815del (p.Thr2268IlefsTer6)
c.5696_5708del (p.Thr1899IlefsTer6)
c.9722_9734del (p.Thr3241IlefsTer6)
c.5474_5486del (p.Thr1825IlefsTer6)
c.8702_8714del (p.Thr2901IlefsTer6)
8g.99835639_99835658delCA2573143608VPS13Bc.9918_9937del (p.Lys3307ThrfsTer5)
n.9988_10007del
c.*5600_*5619del (n.*5600_*5619del)
c.9843_9862del (p.Lys3282ThrfsTer5)
c.9915_9934del (p.Lys3306ThrfsTer5)
c.9840_9859del (p.Lys3281ThrfsTer5)
c.9540_9559del (p.Lys3181ThrfsTer5)
c.6804_6823del (p.Lys2269ThrfsTer5)
c.5697_5716del (p.Lys1900ThrfsTer5)
c.9723_9742del (p.Lys3242ThrfsTer5)
c.5475_5494del (p.Lys1826ThrfsTer5)
c.8703_8722del (p.Lys2902ThrfsTer5)
 ClinVar dbSNP
8g.99835639C>ACA462340852VPS13Bc.9918C>A (p.Thr3306=)
n.9988C>A
c.*5600C>A (n.*5600C>A)
c.9843C>A (p.Thr3281=)
c.9915C>A (p.Thr3305=)
c.9840C>A (p.Thr3280=)
c.9540C>A (p.Thr3180=)
c.6804C>A (p.Thr2268=)
c.5697C>A (p.Thr1899=)
c.9723C>A (p.Thr3241=)
c.5475C>A (p.Thr1825=)
c.8703C>A (p.Thr2901=)
8g.99835639C>GCA462340854VPS13Bc.9918C>G (p.Thr3306=)
n.9988C>G
c.*5600C>G (n.*5600C>G)
c.9843C>G (p.Thr3281=)
c.9915C>G (p.Thr3305=)
c.9840C>G (p.Thr3280=)
c.9540C>G (p.Thr3180=)
c.6804C>G (p.Thr2268=)
c.5697C>G (p.Thr1899=)
c.9723C>G (p.Thr3241=)
c.5475C>G (p.Thr1825=)
c.8703C>G (p.Thr2901=)
8g.99835639C>TCA462340856VPS13Bc.9918C>T (p.Thr3306=)
n.9988C>T
c.*5600C>T (n.*5600C>T)
c.9843C>T (p.Thr3281=)
c.9915C>T (p.Thr3305=)
c.9840C>T (p.Thr3280=)
c.9540C>T (p.Thr3180=)
c.6804C>T (p.Thr2268=)
c.5697C>T (p.Thr1899=)
c.9723C>T (p.Thr3241=)
c.5475C>T (p.Thr1825=)
c.8703C>T (p.Thr2901=)
8g.99835640A>CCA371784293VPS13Bc.9919A>C (p.Lys3307Gln)
n.9989A>C
c.*5601A>C (n.*5601A>C)
c.9844A>C (p.Lys3282Gln)
c.9916A>C (p.Lys3306Gln)
c.9841A>C (p.Lys3281Gln)
c.9541A>C (p.Lys3181Gln)
c.6805A>C (p.Lys2269Gln)
c.5698A>C (p.Lys1900Gln)
c.9724A>C (p.Lys3242Gln)
c.5476A>C (p.Lys1826Gln)
c.8704A>C (p.Lys2902Gln)
8g.99835640A>GCA182339709VPS13Bc.9919A>G (p.Lys3307Glu)
n.9989A>G
c.*5601A>G (n.*5601A>G)
c.9844A>G (p.Lys3282Glu)
c.9916A>G (p.Lys3306Glu)
c.9841A>G (p.Lys3281Glu)
c.9541A>G (p.Lys3181Glu)
c.6805A>G (p.Lys2269Glu)
c.5698A>G (p.Lys1900Glu)
c.9724A>G (p.Lys3242Glu)
c.5476A>G (p.Lys1826Glu)
c.8704A>G (p.Lys2902Glu)
 dbSNP gnomAD v4
8g.99835640A>TCA371784290VPS13Bc.9919A>T (p.Lys3307Ter)
n.9989A>T
c.*5601A>T (n.*5601A>T)
c.9844A>T (p.Lys3282Ter)
c.9916A>T (p.Lys3306Ter)
c.9841A>T (p.Lys3281Ter)
c.9541A>T (p.Lys3181Ter)
c.6805A>T (p.Lys2269Ter)
c.5698A>T (p.Lys1900Ter)
c.9724A>T (p.Lys3242Ter)
c.5476A>T (p.Lys1826Ter)
c.8704A>T (p.Lys2902Ter)
8g.99835641A>CCA182339713VPS13Bc.9920A>C (p.Lys3307Thr)
n.9990A>C
c.*5602A>C (n.*5602A>C)
c.9845A>C (p.Lys3282Thr)
c.9917A>C (p.Lys3306Thr)
c.9842A>C (p.Lys3281Thr)
c.9542A>C (p.Lys3181Thr)
c.6806A>C (p.Lys2269Thr)
c.5699A>C (p.Lys1900Thr)
c.9725A>C (p.Lys3242Thr)
c.5477A>C (p.Lys1826Thr)
c.8705A>C (p.Lys2902Thr)
 dbSNP gnomAD v4
8g.99835641A>GCA371784318VPS13Bc.9920A>G (p.Lys3307Arg)
n.9990A>G
c.*5602A>G (n.*5602A>G)
c.9845A>G (p.Lys3282Arg)
c.9917A>G (p.Lys3306Arg)
c.9842A>G (p.Lys3281Arg)
c.9542A>G (p.Lys3181Arg)
c.6806A>G (p.Lys2269Arg)
c.5699A>G (p.Lys1900Arg)
c.9725A>G (p.Lys3242Arg)
c.5477A>G (p.Lys1826Arg)
c.8705A>G (p.Lys2902Arg)
8g.99835641A>TCA371784325VPS13Bc.9920A>T (p.Lys3307Ile)
n.9990A>T
c.*5602A>T (n.*5602A>T)
c.9845A>T (p.Lys3282Ile)
c.9917A>T (p.Lys3306Ile)
c.9842A>T (p.Lys3281Ile)
c.9542A>T (p.Lys3181Ile)
c.6806A>T (p.Lys2269Ile)
c.5699A>T (p.Lys1900Ile)
c.9725A>T (p.Lys3242Ile)
c.5477A>T (p.Lys1826Ile)
c.8705A>T (p.Lys2902Ile)
8g.99835642A>CCA371784326VPS13Bc.9921A>C (p.Lys3307Asn)
n.9991A>C
c.*5603A>C (n.*5603A>C)
c.9846A>C (p.Lys3282Asn)
c.9918A>C (p.Lys3306Asn)
c.9843A>C (p.Lys3281Asn)
c.9543A>C (p.Lys3181Asn)
c.6807A>C (p.Lys2269Asn)
c.5700A>C (p.Lys1900Asn)
c.9726A>C (p.Lys3242Asn)
c.5478A>C (p.Lys1826Asn)
c.8706A>C (p.Lys2902Asn)
8g.99835642A>GCA462340862VPS13Bc.9921A>G (p.Lys3307=)
n.9991A>G
c.*5603A>G (n.*5603A>G)
c.9846A>G (p.Lys3282=)
c.9918A>G (p.Lys3306=)
c.9843A>G (p.Lys3281=)
c.9543A>G (p.Lys3181=)
c.6807A>G (p.Lys2269=)
c.5700A>G (p.Lys1900=)
c.9726A>G (p.Lys3242=)
c.5478A>G (p.Lys1826=)
c.8706A>G (p.Lys2902=)
8g.99835642A>TCA371784327VPS13Bc.9921A>T (p.Lys3307Asn)
n.9991A>T
c.*5603A>T (n.*5603A>T)
c.9846A>T (p.Lys3282Asn)
c.9918A>T (p.Lys3306Asn)
c.9843A>T (p.Lys3281Asn)
c.9543A>T (p.Lys3181Asn)
c.6807A>T (p.Lys2269Asn)
c.5700A>T (p.Lys1900Asn)
c.9726A>T (p.Lys3242Asn)
c.5478A>T (p.Lys1826Asn)
c.8706A>T (p.Lys2902Asn)
8g.99835643G>ACA371784330VPS13Bc.9922G>A (p.Asp3308Asn)
n.9992G>A
c.*5604G>A (n.*5604G>A)
c.9847G>A (p.Asp3283Asn)
c.9919G>A (p.Asp3307Asn)
c.9844G>A (p.Asp3282Asn)
c.9544G>A (p.Asp3182Asn)
c.6808G>A (p.Asp2270Asn)
c.5701G>A (p.Asp1901Asn)
c.9727G>A (p.Asp3243Asn)
c.5479G>A (p.Asp1827Asn)
c.8707G>A (p.Asp2903Asn)
8g.99835643G>CCA371784333VPS13Bc.9922G>C (p.Asp3308His)
n.9992G>C
c.*5604G>C (n.*5604G>C)
c.9847G>C (p.Asp3283His)
c.9919G>C (p.Asp3307His)
c.9844G>C (p.Asp3282His)
c.9544G>C (p.Asp3182His)
c.6808G>C (p.Asp2270His)
c.5701G>C (p.Asp1901His)
c.9727G>C (p.Asp3243His)
c.5479G>C (p.Asp1827His)
c.8707G>C (p.Asp2903His)
8g.99835643G>TCA371784334VPS13Bc.9922G>T (p.Asp3308Tyr)
n.9992G>T
c.*5604G>T (n.*5604G>T)
c.9847G>T (p.Asp3283Tyr)
c.9919G>T (p.Asp3307Tyr)
c.9844G>T (p.Asp3282Tyr)
c.9544G>T (p.Asp3182Tyr)
c.6808G>T (p.Asp2270Tyr)
c.5701G>T (p.Asp1901Tyr)
c.9727G>T (p.Asp3243Tyr)
c.5479G>T (p.Asp1827Tyr)
c.8707G>T (p.Asp2903Tyr)
8g.99835644A>CCA4824813VPS13Bc.9923A>C (p.Asp3308Ala)
n.9993A>C
c.*5605A>C (n.*5605A>C)
c.9848A>C (p.Asp3283Ala)
c.9920A>C (p.Asp3307Ala)
c.9845A>C (p.Asp3282Ala)
c.9545A>C (p.Asp3182Ala)
c.6809A>C (p.Asp2270Ala)
c.5702A>C (p.Asp1901Ala)
c.9728A>C (p.Asp3243Ala)
c.5480A>C (p.Asp1827Ala)
c.8708A>C (p.Asp2903Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835644A>GCA371784351VPS13Bc.9923A>G (p.Asp3308Gly)
n.9993A>G
c.*5605A>G (n.*5605A>G)
c.9848A>G (p.Asp3283Gly)
c.9920A>G (p.Asp3307Gly)
c.9845A>G (p.Asp3282Gly)
c.9545A>G (p.Asp3182Gly)
c.6809A>G (p.Asp2270Gly)
c.5702A>G (p.Asp1901Gly)
c.9728A>G (p.Asp3243Gly)
c.5480A>G (p.Asp1827Gly)
c.8708A>G (p.Asp2903Gly)
8g.99835644A>TCA371784355VPS13Bc.9923A>T (p.Asp3308Val)
n.9993A>T
c.*5605A>T (n.*5605A>T)
c.9848A>T (p.Asp3283Val)
c.9920A>T (p.Asp3307Val)
c.9845A>T (p.Asp3282Val)
c.9545A>T (p.Asp3182Val)
c.6809A>T (p.Asp2270Val)
c.5702A>T (p.Asp1901Val)
c.9728A>T (p.Asp3243Val)
c.5480A>T (p.Asp1827Val)
c.8708A>T (p.Asp2903Val)
8g.99835645C>ACA371784357VPS13Bc.9924C>A (p.Asp3308Glu)
n.9994C>A
c.*5606C>A (n.*5606C>A)
c.9849C>A (p.Asp3283Glu)
c.9921C>A (p.Asp3307Glu)
c.9846C>A (p.Asp3282Glu)
c.9546C>A (p.Asp3182Glu)
c.6810C>A (p.Asp2270Glu)
c.5703C>A (p.Asp1901Glu)
c.9729C>A (p.Asp3243Glu)
c.5481C>A (p.Asp1827Glu)
c.8709C>A (p.Asp2903Glu)
8g.99835645C>GCA371784358VPS13Bc.9924C>G (p.Asp3308Glu)
n.9994C>G
c.*5606C>G (n.*5606C>G)
c.9849C>G (p.Asp3283Glu)
c.9921C>G (p.Asp3307Glu)
c.9846C>G (p.Asp3282Glu)
c.9546C>G (p.Asp3182Glu)
c.6810C>G (p.Asp2270Glu)
c.5703C>G (p.Asp1901Glu)
c.9729C>G (p.Asp3243Glu)
c.5481C>G (p.Asp1827Glu)
c.8709C>G (p.Asp2903Glu)
8g.99835645C>TCA462340869VPS13Bc.9924C>T (p.Asp3308=)
n.9994C>T
c.*5606C>T (n.*5606C>T)
c.9849C>T (p.Asp3283=)
c.9921C>T (p.Asp3307=)
c.9846C>T (p.Asp3282=)
c.9546C>T (p.Asp3182=)
c.6810C>T (p.Asp2270=)
c.5703C>T (p.Asp1901=)
c.9729C>T (p.Asp3243=)
c.5481C>T (p.Asp1827=)
c.8709C>T (p.Asp2903=)
 dbSNP
8g.99835646T>ACA371784359VPS13Bc.9925T>A (p.Leu3309Ile)
n.9995T>A
c.*5607T>A (n.*5607T>A)
c.9850T>A (p.Leu3284Ile)
c.9922T>A (p.Leu3308Ile)
c.9847T>A (p.Leu3283Ile)
c.9547T>A (p.Leu3183Ile)
c.6811T>A (p.Leu2271Ile)
c.5704T>A (p.Leu1902Ile)
c.9730T>A (p.Leu3244Ile)
c.5482T>A (p.Leu1828Ile)
c.8710T>A (p.Leu2904Ile)
8g.99835646T>CCA462340872VPS13Bc.9925T>C (p.Leu3309=)
n.9995T>C
c.*5607T>C (n.*5607T>C)
c.9850T>C (p.Leu3284=)
c.9922T>C (p.Leu3308=)
c.9847T>C (p.Leu3283=)
c.9547T>C (p.Leu3183=)
c.6811T>C (p.Leu2271=)
c.5704T>C (p.Leu1902=)
c.9730T>C (p.Leu3244=)
c.5482T>C (p.Leu1828=)
c.8710T>C (p.Leu2904=)
8g.99835646T>GCA4824814VPS13Bc.9925T>G (p.Leu3309Val)
n.9995T>G
c.*5607T>G (n.*5607T>G)
c.9850T>G (p.Leu3284Val)
c.9922T>G (p.Leu3308Val)
c.9847T>G (p.Leu3283Val)
c.9547T>G (p.Leu3183Val)
c.6811T>G (p.Leu2271Val)
c.5704T>G (p.Leu1902Val)
c.9730T>G (p.Leu3244Val)
c.5482T>G (p.Leu1828Val)
c.8710T>G (p.Leu2904Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835647T>ACA371784360VPS13Bc.9926T>A (p.Leu3309Ter)
n.9996T>A
c.*5608T>A (n.*5608T>A)
c.9851T>A (p.Leu3284Ter)
c.9923T>A (p.Leu3308Ter)
c.9848T>A (p.Leu3283Ter)
c.9548T>A (p.Leu3183Ter)
c.6812T>A (p.Leu2271Ter)
c.5705T>A (p.Leu1902Ter)
c.9731T>A (p.Leu3244Ter)
c.5483T>A (p.Leu1828Ter)
c.8711T>A (p.Leu2904Ter)
8g.99835647T>CCA371784361VPS13Bc.9926T>C (p.Leu3309Ser)
n.9996T>C
c.*5608T>C (n.*5608T>C)
c.9851T>C (p.Leu3284Ser)
c.9923T>C (p.Leu3308Ser)
c.9848T>C (p.Leu3283Ser)
c.9548T>C (p.Leu3183Ser)
c.6812T>C (p.Leu2271Ser)
c.5705T>C (p.Leu1902Ser)
c.9731T>C (p.Leu3244Ser)
c.5483T>C (p.Leu1828Ser)
c.8711T>C (p.Leu2904Ser)
 dbSNP
8g.99835647T>GCA371784362VPS13Bc.9926T>G (p.Leu3309Ter)
n.9996T>G
c.*5608T>G (n.*5608T>G)
c.9851T>G (p.Leu3284Ter)
c.9923T>G (p.Leu3308Ter)
c.9848T>G (p.Leu3283Ter)
c.9548T>G (p.Leu3183Ter)
c.6812T>G (p.Leu2271Ter)
c.5705T>G (p.Leu1902Ter)
c.9731T>G (p.Leu3244Ter)
c.5483T>G (p.Leu1828Ter)
c.8711T>G (p.Leu2904Ter)
8g.99835648A>CCA371784364VPS13Bc.9927A>C (p.Leu3309Phe)
n.9997A>C
c.*5609A>C (n.*5609A>C)
c.9852A>C (p.Leu3284Phe)
c.9924A>C (p.Leu3308Phe)
c.9849A>C (p.Leu3283Phe)
c.9549A>C (p.Leu3183Phe)
c.6813A>C (p.Leu2271Phe)
c.5706A>C (p.Leu1902Phe)
c.9732A>C (p.Leu3244Phe)
c.5484A>C (p.Leu1828Phe)
c.8712A>C (p.Leu2904Phe)
8g.99835648A>GCA462340877VPS13Bc.9927A>G (p.Leu3309=)
n.9997A>G
c.*5609A>G (n.*5609A>G)
c.9852A>G (p.Leu3284=)
c.9924A>G (p.Leu3308=)
c.9849A>G (p.Leu3283=)
c.9549A>G (p.Leu3183=)
c.6813A>G (p.Leu2271=)
c.5706A>G (p.Leu1902=)
c.9732A>G (p.Leu3244=)
c.5484A>G (p.Leu1828=)
c.8712A>G (p.Leu2904=)
8g.99835648A>TCA371784363VPS13Bc.9927A>T (p.Leu3309Phe)
n.9997A>T
c.*5609A>T (n.*5609A>T)
c.9852A>T (p.Leu3284Phe)
c.9924A>T (p.Leu3308Phe)
c.9849A>T (p.Leu3283Phe)
c.9549A>T (p.Leu3183Phe)
c.6813A>T (p.Leu2271Phe)
c.5706A>T (p.Leu1902Phe)
c.9732A>T (p.Leu3244Phe)
c.5484A>T (p.Leu1828Phe)
c.8712A>T (p.Leu2904Phe)
8g.99835649C>ACA371784366VPS13Bc.9928C>A (p.Leu3310Ile)
n.9998C>A
c.*5610C>A (n.*5610C>A)
c.9853C>A (p.Leu3285Ile)
c.9925C>A (p.Leu3309Ile)
c.9850C>A (p.Leu3284Ile)
c.9550C>A (p.Leu3184Ile)
c.6814C>A (p.Leu2272Ile)
c.5707C>A (p.Leu1903Ile)
c.9733C>A (p.Leu3245Ile)
c.5485C>A (p.Leu1829Ile)
c.8713C>A (p.Leu2905Ile)
8g.99835649C>GCA371784373VPS13Bc.9928C>G (p.Leu3310Val)
n.9998C>G
c.*5610C>G (n.*5610C>G)
c.9853C>G (p.Leu3285Val)
c.9925C>G (p.Leu3309Val)
c.9850C>G (p.Leu3284Val)
c.9550C>G (p.Leu3184Val)
c.6814C>G (p.Leu2272Val)
c.5707C>G (p.Leu1903Val)
c.9733C>G (p.Leu3245Val)
c.5485C>G (p.Leu1829Val)
c.8713C>G (p.Leu2905Val)
 dbSNP gnomAD v3 gnomAD v4
8g.99835649C>TCA371784376VPS13Bc.9928C>T (p.Leu3310Phe)
n.9998C>T
c.*5610C>T (n.*5610C>T)
c.9853C>T (p.Leu3285Phe)
c.9925C>T (p.Leu3309Phe)
c.9850C>T (p.Leu3284Phe)
c.9550C>T (p.Leu3184Phe)
c.6814C>T (p.Leu2272Phe)
c.5707C>T (p.Leu1903Phe)
c.9733C>T (p.Leu3245Phe)
c.5485C>T (p.Leu1829Phe)
c.8713C>T (p.Leu2905Phe)
8g.99835650T>ACA371784384VPS13Bc.9929T>A (p.Leu3310His)
n.9999T>A
c.*5611T>A (n.*5611T>A)
c.9854T>A (p.Leu3285His)
c.9926T>A (p.Leu3309His)
c.9851T>A (p.Leu3284His)
c.9551T>A (p.Leu3184His)
c.6815T>A (p.Leu2272His)
c.5708T>A (p.Leu1903His)
c.9734T>A (p.Leu3245His)
c.5486T>A (p.Leu1829His)
c.8714T>A (p.Leu2905His)
8g.99835650T>CCA371784386VPS13Bc.9929T>C (p.Leu3310Pro)
n.9999T>C
c.*5611T>C (n.*5611T>C)
c.9854T>C (p.Leu3285Pro)
c.9926T>C (p.Leu3309Pro)
c.9851T>C (p.Leu3284Pro)
c.9551T>C (p.Leu3184Pro)
c.6815T>C (p.Leu2272Pro)
c.5708T>C (p.Leu1903Pro)
c.9734T>C (p.Leu3245Pro)
c.5486T>C (p.Leu1829Pro)
c.8714T>C (p.Leu2905Pro)
 gnomAD v4
8g.99835650T>GCA371784388VPS13Bc.9929T>G (p.Leu3310Arg)
n.9999T>G
c.*5611T>G (n.*5611T>G)
c.9854T>G (p.Leu3285Arg)
c.9926T>G (p.Leu3309Arg)
c.9851T>G (p.Leu3284Arg)
c.9551T>G (p.Leu3184Arg)
c.6815T>G (p.Leu2272Arg)
c.5708T>G (p.Leu1903Arg)
c.9734T>G (p.Leu3245Arg)
c.5486T>G (p.Leu1829Arg)
c.8714T>G (p.Leu2905Arg)
8g.99835651T>ACA462340883VPS13Bc.9930T>A (p.Leu3310=)
n.10000T>A
c.*5612T>A (n.*5612T>A)
c.9855T>A (p.Leu3285=)
c.9927T>A (p.Leu3309=)
c.9852T>A (p.Leu3284=)
c.9552T>A (p.Leu3184=)
c.6816T>A (p.Leu2272=)
c.5709T>A (p.Leu1903=)
c.9735T>A (p.Leu3245=)
c.5487T>A (p.Leu1829=)
c.8715T>A (p.Leu2905=)
8g.99835651T>CCA462340884VPS13Bc.9930T>C (p.Leu3310=)
n.10000T>C
c.*5612T>C (n.*5612T>C)
c.9855T>C (p.Leu3285=)
c.9927T>C (p.Leu3309=)
c.9852T>C (p.Leu3284=)
c.9552T>C (p.Leu3184=)
c.6816T>C (p.Leu2272=)
c.5709T>C (p.Leu1903=)
c.9735T>C (p.Leu3245=)
c.5487T>C (p.Leu1829=)
c.8715T>C (p.Leu2905=)
8g.99835651T>GCA462340886VPS13Bc.9930T>G (p.Leu3310=)
n.10000T>G
c.*5612T>G (n.*5612T>G)
c.9855T>G (p.Leu3285=)
c.9927T>G (p.Leu3309=)
c.9852T>G (p.Leu3284=)
c.9552T>G (p.Leu3184=)
c.6816T>G (p.Leu2272=)
c.5709T>G (p.Leu1903=)
c.9735T>G (p.Leu3245=)
c.5487T>G (p.Leu1829=)
c.8715T>G (p.Leu2905=)
8g.99835652C>ACA371784396VPS13Bc.9931C>A (p.Pro3311Thr)
n.10001C>A
c.*5613C>A (n.*5613C>A)
c.9856C>A (p.Pro3286Thr)
c.9928C>A (p.Pro3310Thr)
c.9853C>A (p.Pro3285Thr)
c.9553C>A (p.Pro3185Thr)
c.6817C>A (p.Pro2273Thr)
c.5710C>A (p.Pro1904Thr)
c.9736C>A (p.Pro3246Thr)
c.5488C>A (p.Pro1830Thr)
c.8716C>A (p.Pro2906Thr)
8g.99835652C>GCA371784402VPS13Bc.9931C>G (p.Pro3311Ala)
n.10001C>G
c.*5613C>G (n.*5613C>G)
c.9856C>G (p.Pro3286Ala)
c.9928C>G (p.Pro3310Ala)
c.9853C>G (p.Pro3285Ala)
c.9553C>G (p.Pro3185Ala)
c.6817C>G (p.Pro2273Ala)
c.5710C>G (p.Pro1904Ala)
c.9736C>G (p.Pro3246Ala)
c.5488C>G (p.Pro1830Ala)
c.8716C>G (p.Pro2906Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99835652C>TCA371784404VPS13Bc.9931C>T (p.Pro3311Ser)
n.10001C>T
c.*5613C>T (n.*5613C>T)
c.9856C>T (p.Pro3286Ser)
c.9928C>T (p.Pro3310Ser)
c.9853C>T (p.Pro3285Ser)
c.9553C>T (p.Pro3185Ser)
c.6817C>T (p.Pro2273Ser)
c.5710C>T (p.Pro1904Ser)
c.9736C>T (p.Pro3246Ser)
c.5488C>T (p.Pro1830Ser)
c.8716C>T (p.Pro2906Ser)
 gnomAD v4
8g.99835653C>ACA371784410VPS13Bc.9932C>A (p.Pro3311Gln)
n.10002C>A
c.*5614C>A (n.*5614C>A)
c.9857C>A (p.Pro3286Gln)
c.9929C>A (p.Pro3310Gln)
c.9854C>A (p.Pro3285Gln)
c.9554C>A (p.Pro3185Gln)
c.6818C>A (p.Pro2273Gln)
c.5711C>A (p.Pro1904Gln)
c.9737C>A (p.Pro3246Gln)
c.5489C>A (p.Pro1830Gln)
c.8717C>A (p.Pro2906Gln)
8g.99835653C>GCA371784412VPS13Bc.9932C>G (p.Pro3311Arg)
n.10002C>G
c.*5614C>G (n.*5614C>G)
c.9857C>G (p.Pro3286Arg)
c.9929C>G (p.Pro3310Arg)
c.9854C>G (p.Pro3285Arg)
c.9554C>G (p.Pro3185Arg)
c.6818C>G (p.Pro2273Arg)
c.5711C>G (p.Pro1904Arg)
c.9737C>G (p.Pro3246Arg)
c.5489C>G (p.Pro1830Arg)
c.8717C>G (p.Pro2906Arg)
8g.99835653C>TCA371784416VPS13Bc.9932C>T (p.Pro3311Leu)
n.10002C>T
c.*5614C>T (n.*5614C>T)
c.9857C>T (p.Pro3286Leu)
c.9929C>T (p.Pro3310Leu)
c.9854C>T (p.Pro3285Leu)
c.9554C>T (p.Pro3185Leu)
c.6818C>T (p.Pro2273Leu)
c.5711C>T (p.Pro1904Leu)
c.9737C>T (p.Pro3246Leu)
c.5489C>T (p.Pro1830Leu)
c.8717C>T (p.Pro2906Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.99835654A>CCA462340890VPS13Bc.9933A>C (p.Pro3311=)
n.10003A>C
c.*5615A>C (n.*5615A>C)
c.9858A>C (p.Pro3286=)
c.9930A>C (p.Pro3310=)
c.9855A>C (p.Pro3285=)
c.9555A>C (p.Pro3185=)
c.6819A>C (p.Pro2273=)
c.5712A>C (p.Pro1904=)
c.9738A>C (p.Pro3246=)
c.5490A>C (p.Pro1830=)
c.8718A>C (p.Pro2906=)
8g.99835654A>GCA462340891VPS13Bc.9933A>G (p.Pro3311=)
n.10003A>G
c.*5615A>G (n.*5615A>G)
c.9858A>G (p.Pro3286=)
c.9930A>G (p.Pro3310=)
c.9855A>G (p.Pro3285=)
c.9555A>G (p.Pro3185=)
c.6819A>G (p.Pro2273=)
c.5712A>G (p.Pro1904=)
c.9738A>G (p.Pro3246=)
c.5490A>G (p.Pro1830=)
c.8718A>G (p.Pro2906=)
 ClinVar dbSNP
8g.99835654A>TCA462340893VPS13Bc.9933A>T (p.Pro3311=)
n.10003A>T
c.*5615A>T (n.*5615A>T)
c.9858A>T (p.Pro3286=)
c.9930A>T (p.Pro3310=)
c.9855A>T (p.Pro3285=)
c.9555A>T (p.Pro3185=)
c.6819A>T (p.Pro2273=)
c.5712A>T (p.Pro1904=)
c.9738A>T (p.Pro3246=)
c.5490A>T (p.Pro1830=)
c.8718A>T (p.Pro2906=)
8g.99835655A>CCA371784421VPS13Bc.9934A>C (p.Ser3312Arg)
n.10004A>C
c.*5616A>C (n.*5616A>C)
c.9859A>C (p.Ser3287Arg)
c.9931A>C (p.Ser3311Arg)
c.9856A>C (p.Ser3286Arg)
c.9556A>C (p.Ser3186Arg)
c.6820A>C (p.Ser2274Arg)
c.5713A>C (p.Ser1905Arg)
c.9739A>C (p.Ser3247Arg)
c.5491A>C (p.Ser1831Arg)
c.8719A>C (p.Ser2907Arg)
8g.99835655A>GCA371784420VPS13Bc.9934A>G (p.Ser3312Gly)
n.10004A>G
c.*5616A>G (n.*5616A>G)
c.9859A>G (p.Ser3287Gly)
c.9931A>G (p.Ser3311Gly)
c.9856A>G (p.Ser3286Gly)
c.9556A>G (p.Ser3186Gly)
c.6820A>G (p.Ser2274Gly)
c.5713A>G (p.Ser1905Gly)
c.9739A>G (p.Ser3247Gly)
c.5491A>G (p.Ser1831Gly)
c.8719A>G (p.Ser2907Gly)
8g.99835655A>TCA371784418VPS13Bc.9934A>T (p.Ser3312Cys)
n.10004A>T
c.*5616A>T (n.*5616A>T)
c.9859A>T (p.Ser3287Cys)
c.9931A>T (p.Ser3311Cys)
c.9856A>T (p.Ser3286Cys)
c.9556A>T (p.Ser3186Cys)
c.6820A>T (p.Ser2274Cys)
c.5713A>T (p.Ser1905Cys)
c.9739A>T (p.Ser3247Cys)
c.5491A>T (p.Ser1831Cys)
c.8719A>T (p.Ser2907Cys)
8g.99835656G>ACA371784424VPS13Bc.9935G>A (p.Ser3312Asn)
n.10005G>A
c.*5617G>A (n.*5617G>A)
c.9860G>A (p.Ser3287Asn)
c.9932G>A (p.Ser3311Asn)
c.9857G>A (p.Ser3286Asn)
c.9557G>A (p.Ser3186Asn)
c.6821G>A (p.Ser2274Asn)
c.5714G>A (p.Ser1905Asn)
c.9740G>A (p.Ser3247Asn)
c.5492G>A (p.Ser1831Asn)
c.8720G>A (p.Ser2907Asn)
 ClinVar
8g.99835656G>CCA371784426VPS13Bc.9935G>C (p.Ser3312Thr)
n.10005G>C
c.*5617G>C (n.*5617G>C)
c.9860G>C (p.Ser3287Thr)
c.9932G>C (p.Ser3311Thr)
c.9857G>C (p.Ser3286Thr)
c.9557G>C (p.Ser3186Thr)
c.6821G>C (p.Ser2274Thr)
c.5714G>C (p.Ser1905Thr)
c.9740G>C (p.Ser3247Thr)
c.5492G>C (p.Ser1831Thr)
c.8720G>C (p.Ser2907Thr)
8g.99835656G>TCA371784428VPS13Bc.9935G>T (p.Ser3312Ile)
n.10005G>T
c.*5617G>T (n.*5617G>T)
c.9860G>T (p.Ser3287Ile)
c.9932G>T (p.Ser3311Ile)
c.9857G>T (p.Ser3286Ile)
c.9557G>T (p.Ser3186Ile)
c.6821G>T (p.Ser2274Ile)
c.5714G>T (p.Ser1905Ile)
c.9740G>T (p.Ser3247Ile)
c.5492G>T (p.Ser1831Ile)
c.8720G>T (p.Ser2907Ile)
8g.99835656_99835657insATGGGCA2781479886VPS13Bc.9935_9936insATGGG (p.Ser3312ArgfsTer6)
n.10005_10006insATGGG
c.*5617_*5618insATGGG (n.*5617_*5618insATGGG)
c.9860_9861insATGGG (p.Ser3287ArgfsTer6)
c.9932_9933insATGGG (p.Ser3311ArgfsTer6)
c.9857_9858insATGGG (p.Ser3286ArgfsTer6)
c.9557_9558insATGGG (p.Ser3186ArgfsTer6)
c.6821_6822insATGGG (p.Ser2274ArgfsTer6)
c.5714_5715insATGGG (p.Ser1905ArgfsTer6)
c.9740_9741insATGGG (p.Ser3247ArgfsTer6)
c.5492_5493insATGGG (p.Ser1831ArgfsTer6)
c.8720_8721insATGGG (p.Ser2907ArgfsTer6)
8g.99835657C>ACA371784429VPS13Bc.9936C>A (p.Ser3312Arg)
n.10006C>A
c.*5618C>A (n.*5618C>A)
c.9861C>A (p.Ser3287Arg)
c.9933C>A (p.Ser3311Arg)
c.9858C>A (p.Ser3286Arg)
c.9558C>A (p.Ser3186Arg)
c.6822C>A (p.Ser2274Arg)
c.5715C>A (p.Ser1905Arg)
c.9741C>A (p.Ser3247Arg)
c.5493C>A (p.Ser1831Arg)
c.8721C>A (p.Ser2907Arg)
 dbSNP
8g.99835657C>GCA371784432VPS13Bc.9936C>G (p.Ser3312Arg)
n.10006C>G
c.*5618C>G (n.*5618C>G)
c.9861C>G (p.Ser3287Arg)
c.9933C>G (p.Ser3311Arg)
c.9858C>G (p.Ser3286Arg)
c.9558C>G (p.Ser3186Arg)
c.6822C>G (p.Ser2274Arg)
c.5715C>G (p.Ser1905Arg)
c.9741C>G (p.Ser3247Arg)
c.5493C>G (p.Ser1831Arg)
c.8721C>G (p.Ser2907Arg)
8g.99835657C>TCA462340899VPS13Bc.9936C>T (p.Ser3312=)
n.10006C>T
c.*5618C>T (n.*5618C>T)
c.9861C>T (p.Ser3287=)
c.9933C>T (p.Ser3311=)
c.9858C>T (p.Ser3286=)
c.9558C>T (p.Ser3186=)
c.6822C>T (p.Ser2274=)
c.5715C>T (p.Ser1905=)
c.9741C>T (p.Ser3247=)
c.5493C>T (p.Ser1831=)
c.8721C>T (p.Ser2907=)
8g.99835658C>ACA371784439VPS13Bc.9937C>A (p.Leu3313Ile)
n.10007C>A
c.*5619C>A (n.*5619C>A)
c.9862C>A (p.Leu3288Ile)
c.9934C>A (p.Leu3312Ile)
c.9859C>A (p.Leu3287Ile)
c.9559C>A (p.Leu3187Ile)
c.6823C>A (p.Leu2275Ile)
c.5716C>A (p.Leu1906Ile)
c.9742C>A (p.Leu3248Ile)
c.5494C>A (p.Leu1832Ile)
c.8722C>A (p.Leu2908Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.99835658C>GCA371784436VPS13Bc.9937C>G (p.Leu3313Val)
n.10007C>G
c.*5619C>G (n.*5619C>G)
c.9862C>G (p.Leu3288Val)
c.9934C>G (p.Leu3312Val)
c.9859C>G (p.Leu3287Val)
c.9559C>G (p.Leu3187Val)
c.6823C>G (p.Leu2275Val)
c.5716C>G (p.Leu1906Val)
c.9742C>G (p.Leu3248Val)
c.5494C>G (p.Leu1832Val)
c.8722C>G (p.Leu2908Val)
8g.99835658C>TCA4824815VPS13Bc.9937C>T (p.Leu3313=)
n.10007C>T
c.*5619C>T (n.*5619C>T)
c.9862C>T (p.Leu3288=)
c.9934C>T (p.Leu3312=)
c.9859C>T (p.Leu3287=)
c.9559C>T (p.Leu3187=)
c.6823C>T (p.Leu2275=)
c.5716C>T (p.Leu1906=)
c.9742C>T (p.Leu3248=)
c.5494C>T (p.Leu1832=)
c.8722C>T (p.Leu2908=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835659T>ACA371784443VPS13Bc.9938T>A (p.Leu3313Gln)
n.10008T>A
c.*5620T>A (n.*5620T>A)
c.9863T>A (p.Leu3288Gln)
c.9935T>A (p.Leu3312Gln)
c.9860T>A (p.Leu3287Gln)
c.9560T>A (p.Leu3187Gln)
c.6824T>A (p.Leu2275Gln)
c.5717T>A (p.Leu1906Gln)
c.9743T>A (p.Leu3248Gln)
c.5495T>A (p.Leu1832Gln)
c.8723T>A (p.Leu2908Gln)
8g.99835659T>CCA371784446VPS13Bc.9938T>C (p.Leu3313Pro)
n.10008T>C
c.*5620T>C (n.*5620T>C)
c.9863T>C (p.Leu3288Pro)
c.9935T>C (p.Leu3312Pro)
c.9860T>C (p.Leu3287Pro)
c.9560T>C (p.Leu3187Pro)
c.6824T>C (p.Leu2275Pro)
c.5717T>C (p.Leu1906Pro)
c.9743T>C (p.Leu3248Pro)
c.5495T>C (p.Leu1832Pro)
c.8723T>C (p.Leu2908Pro)
8g.99835659T>GCA371784448VPS13Bc.9938T>G (p.Leu3313Arg)
n.10008T>G
c.*5620T>G (n.*5620T>G)
c.9863T>G (p.Leu3288Arg)
c.9935T>G (p.Leu3312Arg)
c.9860T>G (p.Leu3287Arg)
c.9560T>G (p.Leu3187Arg)
c.6824T>G (p.Leu2275Arg)
c.5717T>G (p.Leu1906Arg)
c.9743T>G (p.Leu3248Arg)
c.5495T>G (p.Leu1832Arg)
c.8723T>G (p.Leu2908Arg)
8g.99835660A>CCA462340905VPS13Bc.9939A>C (p.Leu3313=)
n.10009A>C
c.*5621A>C (n.*5621A>C)
c.9864A>C (p.Leu3288=)
c.9936A>C (p.Leu3312=)
c.9861A>C (p.Leu3287=)
c.9561A>C (p.Leu3187=)
c.6825A>C (p.Leu2275=)
c.5718A>C (p.Leu1906=)
c.9744A>C (p.Leu3248=)
c.5496A>C (p.Leu1832=)
c.8724A>C (p.Leu2908=)
8g.99835660A>GCA462340906VPS13Bc.9939A>G (p.Leu3313=)
n.10009A>G
c.*5621A>G (n.*5621A>G)
c.9864A>G (p.Leu3288=)
c.9936A>G (p.Leu3312=)
c.9861A>G (p.Leu3287=)
c.9561A>G (p.Leu3187=)
c.6825A>G (p.Leu2275=)
c.5718A>G (p.Leu1906=)
c.9744A>G (p.Leu3248=)
c.5496A>G (p.Leu1832=)
c.8724A>G (p.Leu2908=)
 gnomAD v4
8g.99835660A>TCA462340908VPS13Bc.9939A>T (p.Leu3313=)
n.10009A>T
c.*5621A>T (n.*5621A>T)
c.9864A>T (p.Leu3288=)
c.9936A>T (p.Leu3312=)
c.9861A>T (p.Leu3287=)
c.9561A>T (p.Leu3187=)
c.6825A>T (p.Leu2275=)
c.5718A>T (p.Leu1906=)
c.9744A>T (p.Leu3248=)
c.5496A>T (p.Leu1832=)
c.8724A>T (p.Leu2908=)
8g.99835661C>ACA371784451VPS13Bc.9940C>A (p.Leu3314Ile)
n.10010C>A
c.*5622C>A (n.*5622C>A)
c.9865C>A (p.Leu3289Ile)
c.9937C>A (p.Leu3313Ile)
c.9862C>A (p.Leu3288Ile)
c.9562C>A (p.Leu3188Ile)
c.6826C>A (p.Leu2276Ile)
c.5719C>A (p.Leu1907Ile)
c.9745C>A (p.Leu3249Ile)
c.5497C>A (p.Leu1833Ile)
c.8725C>A (p.Leu2909Ile)
8g.99835661C>GCA371784460VPS13Bc.9940C>G (p.Leu3314Val)
n.10010C>G
c.*5622C>G (n.*5622C>G)
c.9865C>G (p.Leu3289Val)
c.9937C>G (p.Leu3313Val)
c.9862C>G (p.Leu3288Val)
c.9562C>G (p.Leu3188Val)
c.6826C>G (p.Leu2276Val)
c.5719C>G (p.Leu1907Val)
c.9745C>G (p.Leu3249Val)
c.5497C>G (p.Leu1833Val)
c.8725C>G (p.Leu2909Val)
8g.99835661C>TCA371784462VPS13Bc.9940C>T (p.Leu3314Phe)
n.10010C>T
c.*5622C>T (n.*5622C>T)
c.9865C>T (p.Leu3289Phe)
c.9937C>T (p.Leu3313Phe)
c.9862C>T (p.Leu3288Phe)
c.9562C>T (p.Leu3188Phe)
c.6826C>T (p.Leu2276Phe)
c.5719C>T (p.Leu1907Phe)
c.9745C>T (p.Leu3249Phe)
c.5497C>T (p.Leu1833Phe)
c.8725C>T (p.Leu2909Phe)
8g.99835662T>ACA371784467VPS13Bc.9941T>A (p.Leu3314His)
n.10011T>A
c.*5623T>A (n.*5623T>A)
c.9866T>A (p.Leu3289His)
c.9938T>A (p.Leu3313His)
c.9863T>A (p.Leu3288His)
c.9563T>A (p.Leu3188His)
c.6827T>A (p.Leu2276His)
c.5720T>A (p.Leu1907His)
c.9746T>A (p.Leu3249His)
c.5498T>A (p.Leu1833His)
c.8726T>A (p.Leu2909His)
8g.99835662T>CCA371784475VPS13Bc.9941T>C (p.Leu3314Pro)
n.10011T>C
c.*5623T>C (n.*5623T>C)
c.9866T>C (p.Leu3289Pro)
c.9938T>C (p.Leu3313Pro)
c.9863T>C (p.Leu3288Pro)
c.9563T>C (p.Leu3188Pro)
c.6827T>C (p.Leu2276Pro)
c.5720T>C (p.Leu1907Pro)
c.9746T>C (p.Leu3249Pro)
c.5498T>C (p.Leu1833Pro)
c.8726T>C (p.Leu2909Pro)
8g.99835662T>GCA371784468VPS13Bc.9941T>G (p.Leu3314Arg)
n.10011T>G
c.*5623T>G (n.*5623T>G)
c.9866T>G (p.Leu3289Arg)
c.9938T>G (p.Leu3313Arg)
c.9863T>G (p.Leu3288Arg)
c.9563T>G (p.Leu3188Arg)
c.6827T>G (p.Leu2276Arg)
c.5720T>G (p.Leu1907Arg)
c.9746T>G (p.Leu3249Arg)
c.5498T>G (p.Leu1833Arg)
c.8726T>G (p.Leu2909Arg)
8g.99835663T>ACA462340914VPS13Bc.9942T>A (p.Leu3314=)
n.10012T>A
c.*5624T>A (n.*5624T>A)
c.9867T>A (p.Leu3289=)
c.9939T>A (p.Leu3313=)
c.9864T>A (p.Leu3288=)
c.9564T>A (p.Leu3188=)
c.6828T>A (p.Leu2276=)
c.5721T>A (p.Leu1907=)
c.9747T>A (p.Leu3249=)
c.5499T>A (p.Leu1833=)
c.8727T>A (p.Leu2909=)
8g.99835663T>CCA462340915VPS13Bc.9942T>C (p.Leu3314=)
n.10012T>C
c.*5624T>C (n.*5624T>C)
c.9867T>C (p.Leu3289=)
c.9939T>C (p.Leu3313=)
c.9864T>C (p.Leu3288=)
c.9564T>C (p.Leu3188=)
c.6828T>C (p.Leu2276=)
c.5721T>C (p.Leu1907=)
c.9747T>C (p.Leu3249=)
c.5499T>C (p.Leu1833=)
c.8727T>C (p.Leu2909=)
8g.99835663T>GCA462340916VPS13Bc.9942T>G (p.Leu3314=)
n.10012T>G
c.*5624T>G (n.*5624T>G)
c.9867T>G (p.Leu3289=)
c.9939T>G (p.Leu3313=)
c.9864T>G (p.Leu3288=)
c.9564T>G (p.Leu3188=)
c.6828T>G (p.Leu2276=)
c.5721T>G (p.Leu1907=)
c.9747T>G (p.Leu3249=)
c.5499T>G (p.Leu1833=)
c.8727T>G (p.Leu2909=)
8g.99835664T>ACA371784478VPS13Bc.9943T>A (p.Leu3315Met)
n.10013T>A
c.*5625T>A (n.*5625T>A)
c.9868T>A (p.Leu3290Met)
c.9940T>A (p.Leu3314Met)
c.9865T>A (p.Leu3289Met)
c.9565T>A (p.Leu3189Met)
c.6829T>A (p.Leu2277Met)
c.5722T>A (p.Leu1908Met)
c.9748T>A (p.Leu3250Met)
c.5500T>A (p.Leu1834Met)
c.8728T>A (p.Leu2910Met)
 dbSNP gnomAD v2
8g.99835664T>CCA462340919VPS13Bc.9943T>C (p.Leu3315=)
n.10013T>C
c.*5625T>C (n.*5625T>C)
c.9868T>C (p.Leu3290=)
c.9940T>C (p.Leu3314=)
c.9865T>C (p.Leu3289=)
c.9565T>C (p.Leu3189=)
c.6829T>C (p.Leu2277=)
c.5722T>C (p.Leu1908=)
c.9748T>C (p.Leu3250=)
c.5500T>C (p.Leu1834=)
c.8728T>C (p.Leu2910=)
 ClinVar dbSNP gnomAD v4
8g.99835664T>GCA371784479VPS13Bc.9943T>G (p.Leu3315Val)
n.10013T>G
c.*5625T>G (n.*5625T>G)
c.9868T>G (p.Leu3290Val)
c.9940T>G (p.Leu3314Val)
c.9865T>G (p.Leu3289Val)
c.9565T>G (p.Leu3189Val)
c.6829T>G (p.Leu2277Val)
c.5722T>G (p.Leu1908Val)
c.9748T>G (p.Leu3250Val)
c.5500T>G (p.Leu1834Val)
c.8728T>G (p.Leu2910Val)
8g.99835665T>ACA371784480VPS13Bc.9944T>A (p.Leu3315Ter)
n.10014T>A
c.*5626T>A (n.*5626T>A)
c.9869T>A (p.Leu3290Ter)
c.9941T>A (p.Leu3314Ter)
c.9866T>A (p.Leu3289Ter)
c.9566T>A (p.Leu3189Ter)
c.6830T>A (p.Leu2277Ter)
c.5723T>A (p.Leu1908Ter)
c.9749T>A (p.Leu3250Ter)
c.5501T>A (p.Leu1834Ter)
c.8729T>A (p.Leu2910Ter)
8g.99835665T>CCA371784481VPS13Bc.9944T>C (p.Leu3315Ser)
n.10014T>C
c.*5626T>C (n.*5626T>C)
c.9869T>C (p.Leu3290Ser)
c.9941T>C (p.Leu3314Ser)
c.9866T>C (p.Leu3289Ser)
c.9566T>C (p.Leu3189Ser)
c.6830T>C (p.Leu2277Ser)
c.5723T>C (p.Leu1908Ser)
c.9749T>C (p.Leu3250Ser)
c.5501T>C (p.Leu1834Ser)
c.8729T>C (p.Leu2910Ser)
8g.99835665T>GCA371784482VPS13Bc.9944T>G (p.Leu3315Trp)
n.10014T>G
c.*5626T>G (n.*5626T>G)
c.9869T>G (p.Leu3290Trp)
c.9941T>G (p.Leu3314Trp)
c.9866T>G (p.Leu3289Trp)
c.9566T>G (p.Leu3189Trp)
c.6830T>G (p.Leu2277Trp)
c.5723T>G (p.Leu1908Trp)
c.9749T>G (p.Leu3250Trp)
c.5501T>G (p.Leu1834Trp)
c.8729T>G (p.Leu2910Trp)
8g.99835666G>ACA462340924VPS13Bc.9945G>A (p.Leu3315=)
n.10015G>A
c.*5627G>A (n.*5627G>A)
c.9870G>A (p.Leu3290=)
c.9942G>A (p.Leu3314=)
c.9867G>A (p.Leu3289=)
c.9567G>A (p.Leu3189=)
c.6831G>A (p.Leu2277=)
c.5724G>A (p.Leu1908=)
c.9750G>A (p.Leu3250=)
c.5502G>A (p.Leu1834=)
c.8730G>A (p.Leu2910=)
8g.99835666G>CCA371784483VPS13Bc.9945G>C (p.Leu3315Phe)
n.10015G>C
c.*5627G>C (n.*5627G>C)
c.9870G>C (p.Leu3290Phe)
c.9942G>C (p.Leu3314Phe)
c.9867G>C (p.Leu3289Phe)
c.9567G>C (p.Leu3189Phe)
c.6831G>C (p.Leu2277Phe)
c.5724G>C (p.Leu1908Phe)
c.9750G>C (p.Leu3250Phe)
c.5502G>C (p.Leu1834Phe)
c.8730G>C (p.Leu2910Phe)
 COSMIC COSMIC
8g.99835666G>TCA371784485VPS13Bc.9945G>T (p.Leu3315Phe)
n.10015G>T
c.*5627G>T (n.*5627G>T)
c.9870G>T (p.Leu3290Phe)
c.9942G>T (p.Leu3314Phe)
c.9867G>T (p.Leu3289Phe)
c.9567G>T (p.Leu3189Phe)
c.6831G>T (p.Leu2277Phe)
c.5724G>T (p.Leu1908Phe)
c.9750G>T (p.Leu3250Phe)
c.5502G>T (p.Leu1834Phe)
c.8730G>T (p.Leu2910Phe)
8g.99835669_99835670dupCA2688071172VPS13Bc.9948_9949dup (p.Val3317GlufsTer5)
n.10018_10019dup
c.*5630_*5631dup (n.*5630_*5631dup)
c.9873_9874dup (p.Val3292GlufsTer5)
c.9945_9946dup (p.Val3316GlufsTer5)
c.9870_9871dup (p.Val3291GlufsTer5)
c.9570_9571dup (p.Val3191GlufsTer5)
c.6834_6835dup (p.Val2279GlufsTer5)
c.5727_5728dup (p.Val1910GlufsTer5)
c.9753_9754dup (p.Val3252GlufsTer5)
c.5505_5506dup (p.Val1836GlufsTer5)
c.8733_8734dup (p.Val2912GlufsTer5)
 gnomAD v4
8g.99835667A>CCA462340926VPS13Bc.9946A>C (p.Arg3316=)
n.10016A>C
c.*5628A>C (n.*5628A>C)
c.9871A>C (p.Arg3291=)
c.9943A>C (p.Arg3315=)
c.9868A>C (p.Arg3290=)
c.9568A>C (p.Arg3190=)
c.6832A>C (p.Arg2278=)
c.5725A>C (p.Arg1909=)
c.9751A>C (p.Arg3251=)
c.5503A>C (p.Arg1835=)
c.8731A>C (p.Arg2911=)
8g.99835667A>GCA371784486VPS13Bc.9946A>G (p.Arg3316Gly)
n.10016A>G
c.*5628A>G (n.*5628A>G)
c.9871A>G (p.Arg3291Gly)
c.9943A>G (p.Arg3315Gly)
c.9868A>G (p.Arg3290Gly)
c.9568A>G (p.Arg3190Gly)
c.6832A>G (p.Arg2278Gly)
c.5725A>G (p.Arg1909Gly)
c.9751A>G (p.Arg3251Gly)
c.5503A>G (p.Arg1835Gly)
c.8731A>G (p.Arg2911Gly)
8g.99835667A>TCA371784488VPS13Bc.9946A>T (p.Arg3316Ter)
n.10016A>T
c.*5628A>T (n.*5628A>T)
c.9871A>T (p.Arg3291Ter)
c.9943A>T (p.Arg3315Ter)
c.9868A>T (p.Arg3290Ter)
c.9568A>T (p.Arg3190Ter)
c.6832A>T (p.Arg2278Ter)
c.5725A>T (p.Arg1909Ter)
c.9751A>T (p.Arg3251Ter)
c.5503A>T (p.Arg1835Ter)
c.8731A>T (p.Arg2911Ter)
8g.99835668G>ACA371784491VPS13Bc.9947G>A (p.Arg3316Lys)
n.10017G>A
c.*5629G>A (n.*5629G>A)
c.9872G>A (p.Arg3291Lys)
c.9944G>A (p.Arg3315Lys)
c.9869G>A (p.Arg3290Lys)
c.9569G>A (p.Arg3190Lys)
c.6833G>A (p.Arg2278Lys)
c.5726G>A (p.Arg1909Lys)
c.9752G>A (p.Arg3251Lys)
c.5504G>A (p.Arg1835Lys)
c.8732G>A (p.Arg2911Lys)
8g.99835668G>CCA371784505VPS13Bc.9947G>C (p.Arg3316Thr)
n.10017G>C
c.*5629G>C (n.*5629G>C)
c.9872G>C (p.Arg3291Thr)
c.9944G>C (p.Arg3315Thr)
c.9869G>C (p.Arg3290Thr)
c.9569G>C (p.Arg3190Thr)
c.6833G>C (p.Arg2278Thr)
c.5726G>C (p.Arg1909Thr)
c.9752G>C (p.Arg3251Thr)
c.5504G>C (p.Arg1835Thr)
c.8732G>C (p.Arg2911Thr)
8g.99835668G>TCA371784510VPS13Bc.9947G>T (p.Arg3316Ile)
n.10017G>T
c.*5629G>T (n.*5629G>T)
c.9872G>T (p.Arg3291Ile)
c.9944G>T (p.Arg3315Ile)
c.9869G>T (p.Arg3290Ile)
c.9569G>T (p.Arg3190Ile)
c.6833G>T (p.Arg2278Ile)
c.5726G>T (p.Arg1909Ile)
c.9752G>T (p.Arg3251Ile)
c.5504G>T (p.Arg1835Ile)
c.8732G>T (p.Arg2911Ile)
8g.99835669A>CCA371784514VPS13Bc.9948A>C (p.Arg3316Ser)
n.10018A>C
c.*5630A>C (n.*5630A>C)
c.9873A>C (p.Arg3291Ser)
c.9945A>C (p.Arg3315Ser)
c.9870A>C (p.Arg3290Ser)
c.9570A>C (p.Arg3190Ser)
c.6834A>C (p.Arg2278Ser)
c.5727A>C (p.Arg1909Ser)
c.9753A>C (p.Arg3251Ser)
c.5505A>C (p.Arg1835Ser)
c.8733A>C (p.Arg2911Ser)
8g.99835669A>GCA462340931VPS13Bc.9948A>G (p.Arg3316=)
n.10018A>G
c.*5630A>G (n.*5630A>G)
c.9873A>G (p.Arg3291=)
c.9945A>G (p.Arg3315=)
c.9870A>G (p.Arg3290=)
c.9570A>G (p.Arg3190=)
c.6834A>G (p.Arg2278=)
c.5727A>G (p.Arg1909=)
c.9753A>G (p.Arg3251=)
c.5505A>G (p.Arg1835=)
c.8733A>G (p.Arg2911=)
8g.99835669A>TCA371784524VPS13Bc.9948A>T (p.Arg3316Ser)
n.10018A>T
c.*5630A>T (n.*5630A>T)
c.9873A>T (p.Arg3291Ser)
c.9945A>T (p.Arg3315Ser)
c.9870A>T (p.Arg3290Ser)
c.9570A>T (p.Arg3190Ser)
c.6834A>T (p.Arg2278Ser)
c.5727A>T (p.Arg1909Ser)
c.9753A>T (p.Arg3251Ser)
c.5505A>T (p.Arg1835Ser)
c.8733A>T (p.Arg2911Ser)
8g.99835670G>ACA371784527VPS13Bc.9949G>A (p.Val3317Ile)
n.10019G>A
c.*5631G>A (n.*5631G>A)
c.9874G>A (p.Val3292Ile)
c.9946G>A (p.Val3316Ile)
c.9871G>A (p.Val3291Ile)
c.9571G>A (p.Val3191Ile)
c.6835G>A (p.Val2279Ile)
c.5728G>A (p.Val1910Ile)
c.9754G>A (p.Val3252Ile)
c.5506G>A (p.Val1836Ile)
c.8734G>A (p.Val2912Ile)
8g.99835670G>CCA4824816VPS13Bc.9949G>C (p.Val3317Leu)
n.10019G>C
c.*5631G>C (n.*5631G>C)
c.9874G>C (p.Val3292Leu)
c.9946G>C (p.Val3316Leu)
c.9871G>C (p.Val3291Leu)
c.9571G>C (p.Val3191Leu)
c.6835G>C (p.Val2279Leu)
c.5728G>C (p.Val1910Leu)
c.9754G>C (p.Val3252Leu)
c.5506G>C (p.Val1836Leu)
c.8734G>C (p.Val2912Leu)
 dbSNP ExAC gnomAD v2
8g.99835670G>TCA371784530VPS13Bc.9949G>T (p.Val3317Phe)
n.10019G>T
c.*5631G>T (n.*5631G>T)
c.9874G>T (p.Val3292Phe)
c.9946G>T (p.Val3316Phe)
c.9871G>T (p.Val3291Phe)
c.9571G>T (p.Val3191Phe)
c.6835G>T (p.Val2279Phe)
c.5728G>T (p.Val1910Phe)
c.9754G>T (p.Val3252Phe)
c.5506G>T (p.Val1836Phe)
c.8734G>T (p.Val2912Phe)
8g.99835671T>ACA371784537VPS13Bc.9950T>A (p.Val3317Asp)
n.10020T>A
c.*5632T>A (n.*5632T>A)
c.9875T>A (p.Val3292Asp)
c.9947T>A (p.Val3316Asp)
c.9872T>A (p.Val3291Asp)
c.9572T>A (p.Val3191Asp)
c.6836T>A (p.Val2279Asp)
c.5729T>A (p.Val1910Asp)
c.9755T>A (p.Val3252Asp)
c.5507T>A (p.Val1836Asp)
c.8735T>A (p.Val2912Asp)
8g.99835671T>CCA371784538VPS13Bc.9950T>C (p.Val3317Ala)
n.10020T>C
c.*5632T>C (n.*5632T>C)
c.9875T>C (p.Val3292Ala)
c.9947T>C (p.Val3316Ala)
c.9872T>C (p.Val3291Ala)
c.9572T>C (p.Val3191Ala)
c.6836T>C (p.Val2279Ala)
c.5729T>C (p.Val1910Ala)
c.9755T>C (p.Val3252Ala)
c.5507T>C (p.Val1836Ala)
c.8735T>C (p.Val2912Ala)
8g.99835671T>GCA371784541VPS13Bc.9950T>G (p.Val3317Gly)
n.10020T>G
c.*5632T>G (n.*5632T>G)
c.9875T>G (p.Val3292Gly)
c.9947T>G (p.Val3316Gly)
c.9872T>G (p.Val3291Gly)
c.9572T>G (p.Val3191Gly)
c.6836T>G (p.Val2279Gly)
c.5729T>G (p.Val1910Gly)
c.9755T>G (p.Val3252Gly)
c.5507T>G (p.Val1836Gly)
c.8735T>G (p.Val2912Gly)
8g.99835672T>ACA462340939VPS13Bc.9951T>A (p.Val3317=)
n.10021T>A
c.*5633T>A (n.*5633T>A)
c.9876T>A (p.Val3292=)
c.9948T>A (p.Val3316=)
c.9873T>A (p.Val3291=)
c.9573T>A (p.Val3191=)
c.6837T>A (p.Val2279=)
c.5730T>A (p.Val1910=)
c.9756T>A (p.Val3252=)
c.5508T>A (p.Val1836=)
c.8736T>A (p.Val2912=)
8g.99835672T>CCA462340937VPS13Bc.9951T>C (p.Val3317=)
n.10021T>C
c.*5633T>C (n.*5633T>C)
c.9876T>C (p.Val3292=)
c.9948T>C (p.Val3316=)
c.9873T>C (p.Val3291=)
c.9573T>C (p.Val3191=)
c.6837T>C (p.Val2279=)
c.5730T>C (p.Val1910=)
c.9756T>C (p.Val3252=)
c.5508T>C (p.Val1836=)
c.8736T>C (p.Val2912=)
8g.99835672T>GCA4824817VPS13Bc.9951T>G (p.Val3317=)
n.10021T>G
c.*5633T>G (n.*5633T>G)
c.9876T>G (p.Val3292=)
c.9948T>G (p.Val3316=)
c.9873T>G (p.Val3291=)
c.9573T>G (p.Val3191=)
c.6837T>G (p.Val2279=)
c.5730T>G (p.Val1910=)
c.9756T>G (p.Val3252=)
c.5508T>G (p.Val1836=)
c.8736T>G (p.Val2912=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835673G>ACA371784552VPS13Bc.9952G>A (p.Glu3318Lys)
n.10022G>A
c.*5634G>A (n.*5634G>A)
c.9877G>A (p.Glu3293Lys)
c.9949G>A (p.Glu3317Lys)
c.9874G>A (p.Glu3292Lys)
c.9574G>A (p.Glu3192Lys)
c.6838G>A (p.Glu2280Lys)
c.5731G>A (p.Glu1911Lys)
c.9757G>A (p.Glu3253Lys)
c.5509G>A (p.Glu1837Lys)
c.8737G>A (p.Glu2913Lys)
8g.99835673G>CCA371784555VPS13Bc.9952G>C (p.Glu3318Gln)
n.10022G>C
c.*5634G>C (n.*5634G>C)
c.9877G>C (p.Glu3293Gln)
c.9949G>C (p.Glu3317Gln)
c.9874G>C (p.Glu3292Gln)
c.9574G>C (p.Glu3192Gln)
c.6838G>C (p.Glu2280Gln)
c.5731G>C (p.Glu1911Gln)
c.9757G>C (p.Glu3253Gln)
c.5509G>C (p.Glu1837Gln)
c.8737G>C (p.Glu2913Gln)
8g.99835673G>TCA371784558VPS13Bc.9952G>T (p.Glu3318Ter)
n.10022G>T
c.*5634G>T (n.*5634G>T)
c.9877G>T (p.Glu3293Ter)
c.9949G>T (p.Glu3317Ter)
c.9874G>T (p.Glu3292Ter)
c.9574G>T (p.Glu3192Ter)
c.6838G>T (p.Glu2280Ter)
c.5731G>T (p.Glu1911Ter)
c.9757G>T (p.Glu3253Ter)
c.5509G>T (p.Glu1837Ter)
c.8737G>T (p.Glu2913Ter)
 gnomAD v4
8g.99835674A>CCA371784568VPS13Bc.9953A>C (p.Glu3318Ala)
n.10023A>C
c.*5635A>C (n.*5635A>C)
c.9878A>C (p.Glu3293Ala)
c.9950A>C (p.Glu3317Ala)
c.9875A>C (p.Glu3292Ala)
c.9575A>C (p.Glu3192Ala)
c.6839A>C (p.Glu2280Ala)
c.5732A>C (p.Glu1911Ala)
c.9758A>C (p.Glu3253Ala)
c.5510A>C (p.Glu1837Ala)
c.8738A>C (p.Glu2913Ala)
8g.99835674A>GCA371784571VPS13Bc.9953A>G (p.Glu3318Gly)
n.10023A>G
c.*5635A>G (n.*5635A>G)
c.9878A>G (p.Glu3293Gly)
c.9950A>G (p.Glu3317Gly)
c.9875A>G (p.Glu3292Gly)
c.9575A>G (p.Glu3192Gly)
c.6839A>G (p.Glu2280Gly)
c.5732A>G (p.Glu1911Gly)
c.9758A>G (p.Glu3253Gly)
c.5510A>G (p.Glu1837Gly)
c.8738A>G (p.Glu2913Gly)
 COSMIC COSMIC
8g.99835674A>TCA371784572VPS13Bc.9953A>T (p.Glu3318Val)
n.10023A>T
c.*5635A>T (n.*5635A>T)
c.9878A>T (p.Glu3293Val)
c.9950A>T (p.Glu3317Val)
c.9875A>T (p.Glu3292Val)
c.9575A>T (p.Glu3192Val)
c.6839A>T (p.Glu2280Val)
c.5732A>T (p.Glu1911Val)
c.9758A>T (p.Glu3253Val)
c.5510A>T (p.Glu1837Val)
c.8738A>T (p.Glu2913Val)
8g.99835675A>CCA371784586VPS13Bc.9954A>C (p.Glu3318Asp)
n.10024A>C
c.*5636A>C (n.*5636A>C)
c.9879A>C (p.Glu3293Asp)
c.9951A>C (p.Glu3317Asp)
c.9876A>C (p.Glu3292Asp)
c.9576A>C (p.Glu3192Asp)
c.6840A>C (p.Glu2280Asp)
c.5733A>C (p.Glu1911Asp)
c.9759A>C (p.Glu3253Asp)
c.5511A>C (p.Glu1837Asp)
c.8739A>C (p.Glu2913Asp)
8g.99835675A>GCA462340946VPS13Bc.9954A>G (p.Glu3318=)
n.10024A>G
c.*5636A>G (n.*5636A>G)
c.9879A>G (p.Glu3293=)
c.9951A>G (p.Glu3317=)
c.9876A>G (p.Glu3292=)
c.9576A>G (p.Glu3192=)
c.6840A>G (p.Glu2280=)
c.5733A>G (p.Glu1911=)
c.9759A>G (p.Glu3253=)
c.5511A>G (p.Glu1837=)
c.8739A>G (p.Glu2913=)
8g.99835675A>TCA371784587VPS13Bc.9954A>T (p.Glu3318Asp)
n.10024A>T
c.*5636A>T (n.*5636A>T)
c.9879A>T (p.Glu3293Asp)
c.9951A>T (p.Glu3317Asp)
c.9876A>T (p.Glu3292Asp)
c.9576A>T (p.Glu3192Asp)
c.6840A>T (p.Glu2280Asp)
c.5733A>T (p.Glu1911Asp)
c.9759A>T (p.Glu3253Asp)
c.5511A>T (p.Glu1837Asp)
c.8739A>T (p.Glu2913Asp)
8g.99835676C>ACA371784603VPS13Bc.9955C>A (p.Pro3319Thr)
n.10025C>A
c.*5637C>A (n.*5637C>A)
c.9880C>A (p.Pro3294Thr)
c.9952C>A (p.Pro3318Thr)
c.9877C>A (p.Pro3293Thr)
c.9577C>A (p.Pro3193Thr)
c.6841C>A (p.Pro2281Thr)
c.5734C>A (p.Pro1912Thr)
c.9760C>A (p.Pro3254Thr)
c.5512C>A (p.Pro1838Thr)
c.8740C>A (p.Pro2914Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99835676C>GCA371784601VPS13Bc.9955C>G (p.Pro3319Ala)
n.10025C>G
c.*5637C>G (n.*5637C>G)
c.9880C>G (p.Pro3294Ala)
c.9952C>G (p.Pro3318Ala)
c.9877C>G (p.Pro3293Ala)
c.9577C>G (p.Pro3193Ala)
c.6841C>G (p.Pro2281Ala)
c.5734C>G (p.Pro1912Ala)
c.9760C>G (p.Pro3254Ala)
c.5512C>G (p.Pro1838Ala)
c.8740C>G (p.Pro2914Ala)
8g.99835676C>TCA371784599VPS13Bc.9955C>T (p.Pro3319Ser)
n.10025C>T
c.*5637C>T (n.*5637C>T)
c.9880C>T (p.Pro3294Ser)
c.9952C>T (p.Pro3318Ser)
c.9877C>T (p.Pro3293Ser)
c.9577C>T (p.Pro3193Ser)
c.6841C>T (p.Pro2281Ser)
c.5734C>T (p.Pro1912Ser)
c.9760C>T (p.Pro3254Ser)
c.5512C>T (p.Pro1838Ser)
c.8740C>T (p.Pro2914Ser)
8g.99835676_99835677delCA16041267VPS13Bc.9955_9956del (p.Pro3319SerfsTer3)
n.10025_10026del
c.*5637_*5638del (n.*5637_*5638del)
c.9880_9881del (p.Pro3294SerfsTer3)
c.9952_9953del (p.Pro3318SerfsTer3)
c.9877_9878del (p.Pro3293SerfsTer3)
c.9577_9578del (p.Pro3193SerfsTer3)
c.6841_6842del (p.Pro2281SerfsTer3)
c.5734_5735del (p.Pro1912SerfsTer3)
c.9760_9761del (p.Pro3254SerfsTer3)
c.5512_5513del (p.Pro1838SerfsTer3)
c.8740_8741del (p.Pro2914SerfsTer3)
 ClinVar dbSNP
8g.99835677C>ACA371784604VPS13Bc.9956C>A (p.Pro3319His)
n.10026C>A
c.*5638C>A (n.*5638C>A)
c.9881C>A (p.Pro3294His)
c.9953C>A (p.Pro3318His)
c.9878C>A (p.Pro3293His)
c.9578C>A (p.Pro3193His)
c.6842C>A (p.Pro2281His)
c.5735C>A (p.Pro1912His)
c.9761C>A (p.Pro3254His)
c.5513C>A (p.Pro1838His)
c.8741C>A (p.Pro2914His)
 dbSNP
8g.99835677C>GCA371784605VPS13Bc.9956C>G (p.Pro3319Arg)
n.10026C>G
c.*5638C>G (n.*5638C>G)
c.9881C>G (p.Pro3294Arg)
c.9953C>G (p.Pro3318Arg)
c.9878C>G (p.Pro3293Arg)
c.9578C>G (p.Pro3193Arg)
c.6842C>G (p.Pro2281Arg)
c.5735C>G (p.Pro1912Arg)
c.9761C>G (p.Pro3254Arg)
c.5513C>G (p.Pro1838Arg)
c.8741C>G (p.Pro2914Arg)
8g.99835677C>TCA371784606VPS13Bc.9956C>T (p.Pro3319Leu)
n.10026C>T
c.*5638C>T (n.*5638C>T)
c.9881C>T (p.Pro3294Leu)
c.9953C>T (p.Pro3318Leu)
c.9878C>T (p.Pro3293Leu)
c.9578C>T (p.Pro3193Leu)
c.6842C>T (p.Pro2281Leu)
c.5735C>T (p.Pro1912Leu)
c.9761C>T (p.Pro3254Leu)
c.5513C>T (p.Pro1838Leu)
c.8741C>T (p.Pro2914Leu)
8g.99835678T>ACA462340952VPS13Bc.9957T>A (p.Pro3319=)
n.10027T>A
c.*5639T>A (n.*5639T>A)
c.9882T>A (p.Pro3294=)
c.9954T>A (p.Pro3318=)
c.9879T>A (p.Pro3293=)
c.9579T>A (p.Pro3193=)
c.6843T>A (p.Pro2281=)
c.5736T>A (p.Pro1912=)
c.9762T>A (p.Pro3254=)
c.5514T>A (p.Pro1838=)
c.8742T>A (p.Pro2914=)
8g.99835678T>CCA462340955VPS13Bc.9957T>C (p.Pro3319=)
n.10027T>C
c.*5639T>C (n.*5639T>C)
c.9882T>C (p.Pro3294=)
c.9954T>C (p.Pro3318=)
c.9879T>C (p.Pro3293=)
c.9579T>C (p.Pro3193=)
c.6843T>C (p.Pro2281=)
c.5736T>C (p.Pro1912=)
c.9762T>C (p.Pro3254=)
c.5514T>C (p.Pro1838=)
c.8742T>C (p.Pro2914=)
8g.99835678T>GCA462340954VPS13Bc.9957T>G (p.Pro3319=)
n.10027T>G
c.*5639T>G (n.*5639T>G)
c.9882T>G (p.Pro3294=)
c.9954T>G (p.Pro3318=)
c.9879T>G (p.Pro3293=)
c.9579T>G (p.Pro3193=)
c.6843T>G (p.Pro2281=)
c.5736T>G (p.Pro1912=)
c.9762T>G (p.Pro3254=)
c.5514T>G (p.Pro1838=)
c.8742T>G (p.Pro2914=)
8g.99835679C>ACA371784609VPS13Bc.9958C>A (p.Leu3320Ile)
n.10028C>A
c.*5640C>A (n.*5640C>A)
c.9883C>A (p.Leu3295Ile)
c.9955C>A (p.Leu3319Ile)
c.9880C>A (p.Leu3294Ile)
c.9580C>A (p.Leu3194Ile)
c.6844C>A (p.Leu2282Ile)
c.5737C>A (p.Leu1913Ile)
c.9763C>A (p.Leu3255Ile)
c.5515C>A (p.Leu1839Ile)
c.8743C>A (p.Leu2915Ile)
8g.99835679C>GCA371784612VPS13Bc.9958C>G (p.Leu3320Val)
n.10028C>G
c.*5640C>G (n.*5640C>G)
c.9883C>G (p.Leu3295Val)
c.9955C>G (p.Leu3319Val)
c.9880C>G (p.Leu3294Val)
c.9580C>G (p.Leu3194Val)
c.6844C>G (p.Leu2282Val)
c.5737C>G (p.Leu1913Val)
c.9763C>G (p.Leu3255Val)
c.5515C>G (p.Leu1839Val)
c.8743C>G (p.Leu2915Val)
8g.99835679C>TCA462340958VPS13Bc.9958C>T (p.Leu3320=)
n.10028C>T
c.*5640C>T (n.*5640C>T)
c.9883C>T (p.Leu3295=)
c.9955C>T (p.Leu3319=)
c.9880C>T (p.Leu3294=)
c.9580C>T (p.Leu3194=)
c.6844C>T (p.Leu2282=)
c.5737C>T (p.Leu1913=)
c.9763C>T (p.Leu3255=)
c.5515C>T (p.Leu1839=)
c.8743C>T (p.Leu2915=)
8g.99835680T>ACA371784615VPS13Bc.9959T>A (p.Leu3320Gln)
n.10029T>A
c.*5641T>A (n.*5641T>A)
c.9884T>A (p.Leu3295Gln)
c.9956T>A (p.Leu3319Gln)
c.9881T>A (p.Leu3294Gln)
c.9581T>A (p.Leu3194Gln)
c.6845T>A (p.Leu2282Gln)
c.5738T>A (p.Leu1913Gln)
c.9764T>A (p.Leu3255Gln)
c.5516T>A (p.Leu1839Gln)
c.8744T>A (p.Leu2915Gln)
8g.99835680T>CCA371784617VPS13Bc.9959T>C (p.Leu3320Pro)
n.10029T>C
c.*5641T>C (n.*5641T>C)
c.9884T>C (p.Leu3295Pro)
c.9956T>C (p.Leu3319Pro)
c.9881T>C (p.Leu3294Pro)
c.9581T>C (p.Leu3194Pro)
c.6845T>C (p.Leu2282Pro)
c.5738T>C (p.Leu1913Pro)
c.9764T>C (p.Leu3255Pro)
c.5516T>C (p.Leu1839Pro)
c.8744T>C (p.Leu2915Pro)
8g.99835680T>GCA371784619VPS13Bc.9959T>G (p.Leu3320Arg)
n.10029T>G
c.*5641T>G (n.*5641T>G)
c.9884T>G (p.Leu3295Arg)
c.9956T>G (p.Leu3319Arg)
c.9881T>G (p.Leu3294Arg)
c.9581T>G (p.Leu3194Arg)
c.6845T>G (p.Leu2282Arg)
c.5738T>G (p.Leu1913Arg)
c.9764T>G (p.Leu3255Arg)
c.5516T>G (p.Leu1839Arg)
c.8744T>G (p.Leu2915Arg)
8g.99835681A>CCA462340962VPS13Bc.9960A>C (p.Leu3320=)
n.10030A>C
c.*5642A>C (n.*5642A>C)
c.9885A>C (p.Leu3295=)
c.9957A>C (p.Leu3319=)
c.9882A>C (p.Leu3294=)
c.9582A>C (p.Leu3194=)
c.6846A>C (p.Leu2282=)
c.5739A>C (p.Leu1913=)
c.9765A>C (p.Leu3255=)
c.5517A>C (p.Leu1839=)
c.8745A>C (p.Leu2915=)
8g.99835681A>GCA462340964VPS13Bc.9960A>G (p.Leu3320=)
n.10030A>G
c.*5642A>G (n.*5642A>G)
c.9885A>G (p.Leu3295=)
c.9957A>G (p.Leu3319=)
c.9882A>G (p.Leu3294=)
c.9582A>G (p.Leu3194=)
c.6846A>G (p.Leu2282=)
c.5739A>G (p.Leu1913=)
c.9765A>G (p.Leu3255=)
c.5517A>G (p.Leu1839=)
c.8745A>G (p.Leu2915=)
8g.99835681A>TCA462340965VPS13Bc.9960A>T (p.Leu3320=)
n.10030A>T
c.*5642A>T (n.*5642A>T)
c.9885A>T (p.Leu3295=)
c.9957A>T (p.Leu3319=)
c.9882A>T (p.Leu3294=)
c.9582A>T (p.Leu3194=)
c.6846A>T (p.Leu2282=)
c.5739A>T (p.Leu1913=)
c.9765A>T (p.Leu3255=)
c.5517A>T (p.Leu1839=)
c.8745A>T (p.Leu2915=)
8g.99835682G>ACA371784620VPS13Bc.9961G>A (p.Asp3321Asn)
n.10031G>A
c.*5643G>A (n.*5643G>A)
c.9886G>A (p.Asp3296Asn)
c.9958G>A (p.Asp3320Asn)
c.9883G>A (p.Asp3295Asn)
c.9583G>A (p.Asp3195Asn)
c.6847G>A (p.Asp2283Asn)
c.5740G>A (p.Asp1914Asn)
c.9766G>A (p.Asp3256Asn)
c.5518G>A (p.Asp1840Asn)
c.8746G>A (p.Asp2916Asn)
8g.99835682G>CCA371784621VPS13Bc.9961G>C (p.Asp3321His)
n.10031G>C
c.*5643G>C (n.*5643G>C)
c.9886G>C (p.Asp3296His)
c.9958G>C (p.Asp3320His)
c.9883G>C (p.Asp3295His)
c.9583G>C (p.Asp3195His)
c.6847G>C (p.Asp2283His)
c.5740G>C (p.Asp1914His)
c.9766G>C (p.Asp3256His)
c.5518G>C (p.Asp1840His)
c.8746G>C (p.Asp2916His)
 gnomAD v4
8g.99835682G>TCA371784623VPS13Bc.9961G>T (p.Asp3321Tyr)
n.10031G>T
c.*5643G>T (n.*5643G>T)
c.9886G>T (p.Asp3296Tyr)
c.9958G>T (p.Asp3320Tyr)
c.9883G>T (p.Asp3295Tyr)
c.9583G>T (p.Asp3195Tyr)
c.6847G>T (p.Asp2283Tyr)
c.5740G>T (p.Asp1914Tyr)
c.9766G>T (p.Asp3256Tyr)
c.5518G>T (p.Asp1840Tyr)
c.8746G>T (p.Asp2916Tyr)
8g.99835683A>CCA371784635VPS13Bc.9962A>C (p.Asp3321Ala)
n.10032A>C
c.*5644A>C (n.*5644A>C)
c.9887A>C (p.Asp3296Ala)
c.9959A>C (p.Asp3320Ala)
c.9884A>C (p.Asp3295Ala)
c.9584A>C (p.Asp3195Ala)
c.6848A>C (p.Asp2283Ala)
c.5741A>C (p.Asp1914Ala)
c.9767A>C (p.Asp3256Ala)
c.5519A>C (p.Asp1840Ala)
c.8747A>C (p.Asp2916Ala)
8g.99835683A>GCA371784628VPS13Bc.9962A>G (p.Asp3321Gly)
n.10032A>G
c.*5644A>G (n.*5644A>G)
c.9887A>G (p.Asp3296Gly)
c.9959A>G (p.Asp3320Gly)
c.9884A>G (p.Asp3295Gly)
c.9584A>G (p.Asp3195Gly)
c.6848A>G (p.Asp2283Gly)
c.5741A>G (p.Asp1914Gly)
c.9767A>G (p.Asp3256Gly)
c.5519A>G (p.Asp1840Gly)
c.8747A>G (p.Asp2916Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.99835683A>TCA371784626VPS13Bc.9962A>T (p.Asp3321Val)
n.10032A>T
c.*5644A>T (n.*5644A>T)
c.9887A>T (p.Asp3296Val)
c.9959A>T (p.Asp3320Val)
c.9884A>T (p.Asp3295Val)
c.9584A>T (p.Asp3195Val)
c.6848A>T (p.Asp2283Val)
c.5741A>T (p.Asp1914Val)
c.9767A>T (p.Asp3256Val)
c.5519A>T (p.Asp1840Val)
c.8747A>T (p.Asp2916Val)
 gnomAD v4
8g.99835684T>ACA371784639VPS13Bc.9963T>A (p.Asp3321Glu)
n.10033T>A
c.*5645T>A (n.*5645T>A)
c.9888T>A (p.Asp3296Glu)
c.9960T>A (p.Asp3320Glu)
c.9885T>A (p.Asp3295Glu)
c.9585T>A (p.Asp3195Glu)
c.6849T>A (p.Asp2283Glu)
c.5742T>A (p.Asp1914Glu)
c.9768T>A (p.Asp3256Glu)
c.5520T>A (p.Asp1840Glu)
c.8748T>A (p.Asp2916Glu)
 gnomAD v4
8g.99835684T>CCA462340972VPS13Bc.9963T>C (p.Asp3321=)
n.10033T>C
c.*5645T>C (n.*5645T>C)
c.9888T>C (p.Asp3296=)
c.9960T>C (p.Asp3320=)
c.9885T>C (p.Asp3295=)
c.9585T>C (p.Asp3195=)
c.6849T>C (p.Asp2283=)
c.5742T>C (p.Asp1914=)
c.9768T>C (p.Asp3256=)
c.5520T>C (p.Asp1840=)
c.8748T>C (p.Asp2916=)
8g.99835684T>GCA371784641VPS13Bc.9963T>G (p.Asp3321Glu)
n.10033T>G
c.*5645T>G (n.*5645T>G)
c.9888T>G (p.Asp3296Glu)
c.9960T>G (p.Asp3320Glu)
c.9885T>G (p.Asp3295Glu)
c.9585T>G (p.Asp3195Glu)
c.6849T>G (p.Asp2283Glu)
c.5742T>G (p.Asp1914Glu)
c.9768T>G (p.Asp3256Glu)
c.5520T>G (p.Asp1840Glu)
c.8748T>G (p.Asp2916Glu)
8g.99835685G>ACA4824818VPS13Bc.9964G>A (p.Glu3322Lys)
n.10034G>A
c.*5646G>A (n.*5646G>A)
c.9889G>A (p.Glu3297Lys)
c.9961G>A (p.Glu3321Lys)
c.9886G>A (p.Glu3296Lys)
c.9586G>A (p.Glu3196Lys)
c.6850G>A (p.Glu2284Lys)
c.5743G>A (p.Glu1915Lys)
c.9769G>A (p.Glu3257Lys)
c.5521G>A (p.Glu1841Lys)
c.8749G>A (p.Glu2917Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835685G>CCA371784646VPS13Bc.9964G>C (p.Glu3322Gln)
n.10034G>C
c.*5646G>C (n.*5646G>C)
c.9889G>C (p.Glu3297Gln)
c.9961G>C (p.Glu3321Gln)
c.9886G>C (p.Glu3296Gln)
c.9586G>C (p.Glu3196Gln)
c.6850G>C (p.Glu2284Gln)
c.5743G>C (p.Glu1915Gln)
c.9769G>C (p.Glu3257Gln)
c.5521G>C (p.Glu1841Gln)
c.8749G>C (p.Glu2917Gln)
8g.99835685G>TCA371784650VPS13Bc.9964G>T (p.Glu3322Ter)
n.10034G>T
c.*5646G>T (n.*5646G>T)
c.9889G>T (p.Glu3297Ter)
c.9961G>T (p.Glu3321Ter)
c.9886G>T (p.Glu3296Ter)
c.9586G>T (p.Glu3196Ter)
c.6850G>T (p.Glu2284Ter)
c.5743G>T (p.Glu1915Ter)
c.9769G>T (p.Glu3257Ter)
c.5521G>T (p.Glu1841Ter)
c.8749G>T (p.Glu2917Ter)
8g.99835686A>CCA371784651VPS13Bc.9965A>C (p.Glu3322Ala)
n.10035A>C
c.*5647A>C (n.*5647A>C)
c.9890A>C (p.Glu3297Ala)
c.9962A>C (p.Glu3321Ala)
c.9887A>C (p.Glu3296Ala)
c.9587A>C (p.Glu3196Ala)
c.6851A>C (p.Glu2284Ala)
c.5744A>C (p.Glu1915Ala)
c.9770A>C (p.Glu3257Ala)
c.5522A>C (p.Glu1841Ala)
c.8750A>C (p.Glu2917Ala)
8g.99835686A>GCA371784652VPS13Bc.9965A>G (p.Glu3322Gly)
n.10035A>G
c.*5647A>G (n.*5647A>G)
c.9890A>G (p.Glu3297Gly)
c.9962A>G (p.Glu3321Gly)
c.9887A>G (p.Glu3296Gly)
c.9587A>G (p.Glu3196Gly)
c.6851A>G (p.Glu2284Gly)
c.5744A>G (p.Glu1915Gly)
c.9770A>G (p.Glu3257Gly)
c.5522A>G (p.Glu1841Gly)
c.8750A>G (p.Glu2917Gly)
8g.99835686A>TCA371784653VPS13Bc.9965A>T (p.Glu3322Val)
n.10035A>T
c.*5647A>T (n.*5647A>T)
c.9890A>T (p.Glu3297Val)
c.9962A>T (p.Glu3321Val)
c.9887A>T (p.Glu3296Val)
c.9587A>T (p.Glu3196Val)
c.6851A>T (p.Glu2284Val)
c.5744A>T (p.Glu1915Val)
c.9770A>T (p.Glu3257Val)
c.5522A>T (p.Glu1841Val)
c.8750A>T (p.Glu2917Val)
8g.99835687A>CCA371784654VPS13Bc.9966A>C (p.Glu3322Asp)
n.10036A>C
c.*5648A>C (n.*5648A>C)
c.9891A>C (p.Glu3297Asp)
c.9963A>C (p.Glu3321Asp)
c.9888A>C (p.Glu3296Asp)
c.9588A>C (p.Glu3196Asp)
c.6852A>C (p.Glu2284Asp)
c.5745A>C (p.Glu1915Asp)
c.9771A>C (p.Glu3257Asp)
c.5523A>C (p.Glu1841Asp)
c.8751A>C (p.Glu2917Asp)
8g.99835687A>GCA462340979VPS13Bc.9966A>G (p.Glu3322=)
n.10036A>G
c.*5648A>G (n.*5648A>G)
c.9891A>G (p.Glu3297=)
c.9963A>G (p.Glu3321=)
c.9888A>G (p.Glu3296=)
c.9588A>G (p.Glu3196=)
c.6852A>G (p.Glu2284=)
c.5745A>G (p.Glu1915=)
c.9771A>G (p.Glu3257=)
c.5523A>G (p.Glu1841=)
c.8751A>G (p.Glu2917=)
8g.99835687A>TCA371784655VPS13Bc.9966A>T (p.Glu3322Asp)
n.10036A>T
c.*5648A>T (n.*5648A>T)
c.9891A>T (p.Glu3297Asp)
c.9963A>T (p.Glu3321Asp)
c.9888A>T (p.Glu3296Asp)
c.9588A>T (p.Glu3196Asp)
c.6852A>T (p.Glu2284Asp)
c.5745A>T (p.Glu1915Asp)
c.9771A>T (p.Glu3257Asp)
c.5523A>T (p.Glu1841Asp)
c.8751A>T (p.Glu2917Asp)
8g.99835687_99835688insCCTCTAGACA2573143609VPS13Bc.9966_9967insCCTCTAGA (p.Val3323ProfsTer4)
n.10036_10037insCCTCTAGA
c.*5648_*5649insCCTCTAGA (n.*5648_*5649insCCTCTAGA)
c.9891_9892insCCTCTAGA (p.Val3298ProfsTer4)
c.9963_9964insCCTCTAGA (p.Val3322ProfsTer4)
c.9888_9889insCCTCTAGA (p.Val3297ProfsTer4)
c.9588_9589insCCTCTAGA (p.Val3197ProfsTer4)
c.6852_6853insCCTCTAGA (p.Val2285ProfsTer4)
c.5745_5746insCCTCTAGA (p.Val1916ProfsTer4)
c.9771_9772insCCTCTAGA (p.Val3258ProfsTer4)
c.5523_5524insCCTCTAGA (p.Val1842ProfsTer4)
c.8751_8752insCCTCTAGA (p.Val2918ProfsTer4)
 ClinVar dbSNP
8g.99835688G>ACA371784656VPS13Bc.9967G>A (p.Val3323Ile)
n.10037G>A
c.*5649G>A (n.*5649G>A)
c.9892G>A (p.Val3298Ile)
c.9964G>A (p.Val3322Ile)
c.9889G>A (p.Val3297Ile)
c.9589G>A (p.Val3197Ile)
c.6853G>A (p.Val2285Ile)
c.5746G>A (p.Val1916Ile)
c.9772G>A (p.Val3258Ile)
c.5524G>A (p.Val1842Ile)
c.8752G>A (p.Val2918Ile)
8g.99835688G>CCA371784665VPS13Bc.9967G>C (p.Val3323Leu)
n.10037G>C
c.*5649G>C (n.*5649G>C)
c.9892G>C (p.Val3298Leu)
c.9964G>C (p.Val3322Leu)
c.9889G>C (p.Val3297Leu)
c.9589G>C (p.Val3197Leu)
c.6853G>C (p.Val2285Leu)
c.5746G>C (p.Val1916Leu)
c.9772G>C (p.Val3258Leu)
c.5524G>C (p.Val1842Leu)
c.8752G>C (p.Val2918Leu)
8g.99835688G>TCA371784669VPS13Bc.9967G>T (p.Val3323Leu)
n.10037G>T
c.*5649G>T (n.*5649G>T)
c.9892G>T (p.Val3298Leu)
c.9964G>T (p.Val3322Leu)
c.9889G>T (p.Val3297Leu)
c.9589G>T (p.Val3197Leu)
c.6853G>T (p.Val2285Leu)
c.5746G>T (p.Val1916Leu)
c.9772G>T (p.Val3258Leu)
c.5524G>T (p.Val1842Leu)
c.8752G>T (p.Val2918Leu)
8g.99835689T>ACA371784675VPS13Bc.9968T>A (p.Val3323Glu)
n.10038T>A
c.*5650T>A (n.*5650T>A)
c.9893T>A (p.Val3298Glu)
c.9965T>A (p.Val3322Glu)
c.9890T>A (p.Val3297Glu)
c.9590T>A (p.Val3197Glu)
c.6854T>A (p.Val2285Glu)
c.5747T>A (p.Val1916Glu)
c.9773T>A (p.Val3258Glu)
c.5525T>A (p.Val1842Glu)
c.8753T>A (p.Val2918Glu)
8g.99835689T>CCA371784672VPS13Bc.9968T>C (p.Val3323Ala)
n.10038T>C
c.*5650T>C (n.*5650T>C)
c.9893T>C (p.Val3298Ala)
c.9965T>C (p.Val3322Ala)
c.9890T>C (p.Val3297Ala)
c.9590T>C (p.Val3197Ala)
c.6854T>C (p.Val2285Ala)
c.5747T>C (p.Val1916Ala)
c.9773T>C (p.Val3258Ala)
c.5525T>C (p.Val1842Ala)
c.8753T>C (p.Val2918Ala)
 dbSNP gnomAD v2
8g.99835689T>GCA371784674VPS13Bc.9968T>G (p.Val3323Gly)
n.10038T>G
c.*5650T>G (n.*5650T>G)
c.9893T>G (p.Val3298Gly)
c.9965T>G (p.Val3322Gly)
c.9890T>G (p.Val3297Gly)
c.9590T>G (p.Val3197Gly)
c.6854T>G (p.Val2285Gly)
c.5747T>G (p.Val1916Gly)
c.9773T>G (p.Val3258Gly)
c.5525T>G (p.Val1842Gly)
c.8753T>G (p.Val2918Gly)

Number of alleles fetched