Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99832593T>ACA371781892VPS13Bc.9630T>A (p.Phe3210Leu)
n.9700T>A
c.*5312T>A (n.*5312T>A)
c.9555T>A (p.Phe3185Leu)
c.9627T>A (p.Phe3209Leu)
c.9552T>A (p.Phe3184Leu)
c.9252T>A (p.Phe3084Leu)
c.6516T>A (p.Phe2172Leu)
c.5409T>A (p.Phe1803Leu)
c.9435T>A (p.Phe3145Leu)
c.5187T>A (p.Phe1729Leu)
c.8415T>A (p.Phe2805Leu)
8g.99832593T>CCA462457998VPS13Bc.9630T>C (p.Phe3210=)
n.9700T>C
c.*5312T>C (n.*5312T>C)
c.9555T>C (p.Phe3185=)
c.9627T>C (p.Phe3209=)
c.9552T>C (p.Phe3184=)
c.9252T>C (p.Phe3084=)
c.6516T>C (p.Phe2172=)
c.5409T>C (p.Phe1803=)
c.9435T>C (p.Phe3145=)
c.5187T>C (p.Phe1729=)
c.8415T>C (p.Phe2805=)
8g.99832593T>GCA371781893VPS13Bc.9630T>G (p.Phe3210Leu)
n.9700T>G
c.*5312T>G (n.*5312T>G)
c.9555T>G (p.Phe3185Leu)
c.9627T>G (p.Phe3209Leu)
c.9552T>G (p.Phe3184Leu)
c.9252T>G (p.Phe3084Leu)
c.6516T>G (p.Phe2172Leu)
c.5409T>G (p.Phe1803Leu)
c.9435T>G (p.Phe3145Leu)
c.5187T>G (p.Phe1729Leu)
c.8415T>G (p.Phe2805Leu)
8g.99832594C>ACA371781894VPS13Bc.9631C>A (p.Pro3211Thr)
n.9701C>A
c.*5313C>A (n.*5313C>A)
c.9556C>A (p.Pro3186Thr)
c.9628C>A (p.Pro3210Thr)
c.9553C>A (p.Pro3185Thr)
c.9253C>A (p.Pro3085Thr)
c.6517C>A (p.Pro2173Thr)
c.5410C>A (p.Pro1804Thr)
c.9436C>A (p.Pro3146Thr)
c.5188C>A (p.Pro1730Thr)
c.8416C>A (p.Pro2806Thr)
8g.99832594C>GCA371781895VPS13Bc.9631C>G (p.Pro3211Ala)
n.9701C>G
c.*5313C>G (n.*5313C>G)
c.9556C>G (p.Pro3186Ala)
c.9628C>G (p.Pro3210Ala)
c.9553C>G (p.Pro3185Ala)
c.9253C>G (p.Pro3085Ala)
c.6517C>G (p.Pro2173Ala)
c.5410C>G (p.Pro1804Ala)
c.9436C>G (p.Pro3146Ala)
c.5188C>G (p.Pro1730Ala)
c.8416C>G (p.Pro2806Ala)
8g.99832594C>TCA371781896VPS13Bc.9631C>T (p.Pro3211Ser)
n.9701C>T
c.*5313C>T (n.*5313C>T)
c.9556C>T (p.Pro3186Ser)
c.9628C>T (p.Pro3210Ser)
c.9553C>T (p.Pro3185Ser)
c.9253C>T (p.Pro3085Ser)
c.6517C>T (p.Pro2173Ser)
c.5410C>T (p.Pro1804Ser)
c.9436C>T (p.Pro3146Ser)
c.5188C>T (p.Pro1730Ser)
c.8416C>T (p.Pro2806Ser)
 gnomAD v4
8g.99832595C>ACA371781897VPS13Bc.9632C>A (p.Pro3211His)
n.9702C>A
c.*5314C>A (n.*5314C>A)
c.9557C>A (p.Pro3186His)
c.9629C>A (p.Pro3210His)
c.9554C>A (p.Pro3185His)
c.9254C>A (p.Pro3085His)
c.6518C>A (p.Pro2173His)
c.5411C>A (p.Pro1804His)
c.9437C>A (p.Pro3146His)
c.5189C>A (p.Pro1730His)
c.8417C>A (p.Pro2806His)
8g.99832595C>GCA371781898VPS13Bc.9632C>G (p.Pro3211Arg)
n.9702C>G
c.*5314C>G (n.*5314C>G)
c.9557C>G (p.Pro3186Arg)
c.9629C>G (p.Pro3210Arg)
c.9554C>G (p.Pro3185Arg)
c.9254C>G (p.Pro3085Arg)
c.6518C>G (p.Pro2173Arg)
c.5411C>G (p.Pro1804Arg)
c.9437C>G (p.Pro3146Arg)
c.5189C>G (p.Pro1730Arg)
c.8417C>G (p.Pro2806Arg)
8g.99832595C>TCA371781899VPS13Bc.9632C>T (p.Pro3211Leu)
n.9702C>T
c.*5314C>T (n.*5314C>T)
c.9557C>T (p.Pro3186Leu)
c.9629C>T (p.Pro3210Leu)
c.9554C>T (p.Pro3185Leu)
c.9254C>T (p.Pro3085Leu)
c.6518C>T (p.Pro2173Leu)
c.5411C>T (p.Pro1804Leu)
c.9437C>T (p.Pro3146Leu)
c.5189C>T (p.Pro1730Leu)
c.8417C>T (p.Pro2806Leu)
8g.99832596_99832600delCA913128174VPS13Bc.9633_9637del (p.Arg3212GlufsTer?)
n.9703_9707del
c.*5315_*5319del (n.*5315_*5319del)
c.9558_9562del (p.Arg3187GlufsTer?)
c.9630_9634del (p.Arg3211GlufsTer?)
c.9555_9559del (p.Arg3186GlufsTer?)
c.9255_9259del (p.Arg3086GlufsTer?)
c.6519_6523del (p.Arg2174GlufsTer?)
c.5412_5416del (p.Arg1805GlufsTer?)
c.9438_9442del (p.Arg3147GlufsTer?)
c.5190_5194del (p.Arg1731GlufsTer?)
c.8418_8422del (p.Arg2807GlufsTer?)
8g.99832596C>ACA462458002VPS13Bc.9633C>A (p.Pro3211=)
n.9703C>A
c.*5315C>A (n.*5315C>A)
c.9558C>A (p.Pro3186=)
c.9630C>A (p.Pro3210=)
c.9555C>A (p.Pro3185=)
c.9255C>A (p.Pro3085=)
c.6519C>A (p.Pro2173=)
c.5412C>A (p.Pro1804=)
c.9438C>A (p.Pro3146=)
c.5190C>A (p.Pro1730=)
c.8418C>A (p.Pro2806=)
8g.99832596C>GCA462458003VPS13Bc.9633C>G (p.Pro3211=)
n.9703C>G
c.*5315C>G (n.*5315C>G)
c.9558C>G (p.Pro3186=)
c.9630C>G (p.Pro3210=)
c.9555C>G (p.Pro3185=)
c.9255C>G (p.Pro3085=)
c.6519C>G (p.Pro2173=)
c.5412C>G (p.Pro1804=)
c.9438C>G (p.Pro3146=)
c.5190C>G (p.Pro1730=)
c.8418C>G (p.Pro2806=)
8g.99832596C>TCA462458004VPS13Bc.9633C>T (p.Pro3211=)
n.9703C>T
c.*5315C>T (n.*5315C>T)
c.9558C>T (p.Pro3186=)
c.9630C>T (p.Pro3210=)
c.9555C>T (p.Pro3185=)
c.9255C>T (p.Pro3085=)
c.6519C>T (p.Pro2173=)
c.5412C>T (p.Pro1804=)
c.9438C>T (p.Pro3146=)
c.5190C>T (p.Pro1730=)
c.8418C>T (p.Pro2806=)
 ClinVar
8g.99832600_99832603delCA658823166VPS13Bc.9637_9640del (p.Gln3213ValfsTer19)
n.9707_9710del
c.*5319_*5322del (n.*5319_*5322del)
c.9562_9565del (p.Gln3188ValfsTer19)
c.9634_9637del (p.Gln3212ValfsTer19)
c.9559_9562del (p.Gln3187ValfsTer19)
c.9259_9262del (p.Gln3087ValfsTer19)
c.6523_6526del (p.Gln2175ValfsTer19)
c.5416_5419del (p.Gln1806ValfsTer19)
c.9442_9445del (p.Gln3148ValfsTer19)
c.5194_5197del (p.Gln1732ValfsTer19)
c.8422_8425del (p.Gln2808ValfsTer19)
 ClinVar dbSNP
8g.99832597A>CCA462458005VPS13Bc.9634A>C (p.Arg3212=)
n.9704A>C
c.*5316A>C (n.*5316A>C)
c.9559A>C (p.Arg3187=)
c.9631A>C (p.Arg3211=)
c.9556A>C (p.Arg3186=)
c.9256A>C (p.Arg3086=)
c.6520A>C (p.Arg2174=)
c.5413A>C (p.Arg1805=)
c.9439A>C (p.Arg3147=)
c.5191A>C (p.Arg1731=)
c.8419A>C (p.Arg2807=)
8g.99832597A>GCA371781900VPS13Bc.9634A>G (p.Arg3212Gly)
n.9704A>G
c.*5316A>G (n.*5316A>G)
c.9559A>G (p.Arg3187Gly)
c.9631A>G (p.Arg3211Gly)
c.9556A>G (p.Arg3186Gly)
c.9256A>G (p.Arg3086Gly)
c.6520A>G (p.Arg2174Gly)
c.5413A>G (p.Arg1805Gly)
c.9439A>G (p.Arg3147Gly)
c.5191A>G (p.Arg1731Gly)
c.8419A>G (p.Arg2807Gly)
 dbSNP gnomAD v4
8g.99832597A>TCA371781901VPS13Bc.9634A>T (p.Arg3212Ter)
n.9704A>T
c.*5316A>T (n.*5316A>T)
c.9559A>T (p.Arg3187Ter)
c.9631A>T (p.Arg3211Ter)
c.9556A>T (p.Arg3186Ter)
c.9256A>T (p.Arg3086Ter)
c.6520A>T (p.Arg2174Ter)
c.5413A>T (p.Arg1805Ter)
c.9439A>T (p.Arg3147Ter)
c.5191A>T (p.Arg1731Ter)
c.8419A>T (p.Arg2807Ter)
8g.99832598G>ACA371781902VPS13Bc.9635G>A (p.Arg3212Lys)
n.9705G>A
c.*5317G>A (n.*5317G>A)
c.9560G>A (p.Arg3187Lys)
c.9632G>A (p.Arg3211Lys)
c.9557G>A (p.Arg3186Lys)
c.9257G>A (p.Arg3086Lys)
c.6521G>A (p.Arg2174Lys)
c.5414G>A (p.Arg1805Lys)
c.9440G>A (p.Arg3147Lys)
c.5192G>A (p.Arg1731Lys)
c.8420G>A (p.Arg2807Lys)
8g.99832598G>CCA371781903VPS13Bc.9635G>C (p.Arg3212Thr)
n.9705G>C
c.*5317G>C (n.*5317G>C)
c.9560G>C (p.Arg3187Thr)
c.9632G>C (p.Arg3211Thr)
c.9557G>C (p.Arg3186Thr)
c.9257G>C (p.Arg3086Thr)
c.6521G>C (p.Arg2174Thr)
c.5414G>C (p.Arg1805Thr)
c.9440G>C (p.Arg3147Thr)
c.5192G>C (p.Arg1731Thr)
c.8420G>C (p.Arg2807Thr)
8g.99832598G>TCA371781904VPS13Bc.9635G>T (p.Arg3212Ile)
n.9705G>T
c.*5317G>T (n.*5317G>T)
c.9560G>T (p.Arg3187Ile)
c.9632G>T (p.Arg3211Ile)
c.9557G>T (p.Arg3186Ile)
c.9257G>T (p.Arg3086Ile)
c.6521G>T (p.Arg2174Ile)
c.5414G>T (p.Arg1805Ile)
c.9440G>T (p.Arg3147Ile)
c.5192G>T (p.Arg1731Ile)
c.8420G>T (p.Arg2807Ile)
8g.99832599A>CCA371781905VPS13Bc.9636A>C (p.Arg3212Ser)
n.9706A>C
c.*5318A>C (n.*5318A>C)
c.9561A>C (p.Arg3187Ser)
c.9633A>C (p.Arg3211Ser)
c.9558A>C (p.Arg3186Ser)
c.9258A>C (p.Arg3086Ser)
c.6522A>C (p.Arg2174Ser)
c.5415A>C (p.Arg1805Ser)
c.9441A>C (p.Arg3147Ser)
c.5193A>C (p.Arg1731Ser)
c.8421A>C (p.Arg2807Ser)
8g.99832599A>GCA462458006VPS13Bc.9636A>G (p.Arg3212=)
n.9706A>G
c.*5318A>G (n.*5318A>G)
c.9561A>G (p.Arg3187=)
c.9633A>G (p.Arg3211=)
c.9558A>G (p.Arg3186=)
c.9258A>G (p.Arg3086=)
c.6522A>G (p.Arg2174=)
c.5415A>G (p.Arg1805=)
c.9441A>G (p.Arg3147=)
c.5193A>G (p.Arg1731=)
c.8421A>G (p.Arg2807=)
 COSMIC COSMIC
8g.99832599A>TCA371781906VPS13Bc.9636A>T (p.Arg3212Ser)
n.9706A>T
c.*5318A>T (n.*5318A>T)
c.9561A>T (p.Arg3187Ser)
c.9633A>T (p.Arg3211Ser)
c.9558A>T (p.Arg3186Ser)
c.9258A>T (p.Arg3086Ser)
c.6522A>T (p.Arg2174Ser)
c.5415A>T (p.Arg1805Ser)
c.9441A>T (p.Arg3147Ser)
c.5193A>T (p.Arg1731Ser)
c.8421A>T (p.Arg2807Ser)
8g.99832600C>ACA371781907VPS13Bc.9637C>A (p.Gln3213Lys)
n.9707C>A
c.*5319C>A (n.*5319C>A)
c.9562C>A (p.Gln3188Lys)
c.9634C>A (p.Gln3212Lys)
c.9559C>A (p.Gln3187Lys)
c.9259C>A (p.Gln3087Lys)
c.6523C>A (p.Gln2175Lys)
c.5416C>A (p.Gln1806Lys)
c.9442C>A (p.Gln3148Lys)
c.5194C>A (p.Gln1732Lys)
c.8422C>A (p.Gln2808Lys)
 gnomAD v4
8g.99832600C>GCA371781909VPS13Bc.9637C>G (p.Gln3213Glu)
n.9707C>G
c.*5319C>G (n.*5319C>G)
c.9562C>G (p.Gln3188Glu)
c.9634C>G (p.Gln3212Glu)
c.9559C>G (p.Gln3187Glu)
c.9259C>G (p.Gln3087Glu)
c.6523C>G (p.Gln2175Glu)
c.5416C>G (p.Gln1806Glu)
c.9442C>G (p.Gln3148Glu)
c.5194C>G (p.Gln1732Glu)
c.8422C>G (p.Gln2808Glu)
8g.99832600C>TCA371781908VPS13Bc.9637C>T (p.Gln3213Ter)
n.9707C>T
c.*5319C>T (n.*5319C>T)
c.9562C>T (p.Gln3188Ter)
c.9634C>T (p.Gln3212Ter)
c.9559C>T (p.Gln3187Ter)
c.9259C>T (p.Gln3087Ter)
c.6523C>T (p.Gln2175Ter)
c.5416C>T (p.Gln1806Ter)
c.9442C>T (p.Gln3148Ter)
c.5194C>T (p.Gln1732Ter)
c.8422C>T (p.Gln2808Ter)
8g.99832601A>CCA371781910VPS13Bc.9638A>C (p.Gln3213Pro)
n.9708A>C
c.*5320A>C (n.*5320A>C)
c.9563A>C (p.Gln3188Pro)
c.9635A>C (p.Gln3212Pro)
c.9560A>C (p.Gln3187Pro)
c.9260A>C (p.Gln3087Pro)
c.6524A>C (p.Gln2175Pro)
c.5417A>C (p.Gln1806Pro)
c.9443A>C (p.Gln3148Pro)
c.5195A>C (p.Gln1732Pro)
c.8423A>C (p.Gln2808Pro)
8g.99832601A>GCA371781911VPS13Bc.9638A>G (p.Gln3213Arg)
n.9708A>G
c.*5320A>G (n.*5320A>G)
c.9563A>G (p.Gln3188Arg)
c.9635A>G (p.Gln3212Arg)
c.9560A>G (p.Gln3187Arg)
c.9260A>G (p.Gln3087Arg)
c.6524A>G (p.Gln2175Arg)
c.5417A>G (p.Gln1806Arg)
c.9443A>G (p.Gln3148Arg)
c.5195A>G (p.Gln1732Arg)
c.8423A>G (p.Gln2808Arg)
8g.99832601A>TCA371781912VPS13Bc.9638A>T (p.Gln3213Leu)
n.9708A>T
c.*5320A>T (n.*5320A>T)
c.9563A>T (p.Gln3188Leu)
c.9635A>T (p.Gln3212Leu)
c.9560A>T (p.Gln3187Leu)
c.9260A>T (p.Gln3087Leu)
c.6524A>T (p.Gln2175Leu)
c.5417A>T (p.Gln1806Leu)
c.9443A>T (p.Gln3148Leu)
c.5195A>T (p.Gln1732Leu)
c.8423A>T (p.Gln2808Leu)
8g.99832601dupCA2573143605VPS13Bc.9638dup (p.Ser3214GlufsTer?)
n.9708dup
c.*5320dup (n.*5320dup)
c.9563dup (p.Ser3189GlufsTer?)
c.9635dup (p.Ser3213GlufsTer?)
c.9560dup (p.Ser3188GlufsTer?)
c.9260dup (p.Ser3088GlufsTer?)
c.6524dup (p.Ser2176GlufsTer?)
c.5417dup (p.Ser1807GlufsTer?)
c.9443dup (p.Ser3149GlufsTer?)
c.5195dup (p.Ser1733GlufsTer?)
c.8423dup (p.Ser2809GlufsTer?)
 ClinVar dbSNP
8g.99832603_99832604delCA2739268890VPS13Bc.9640_9641del (p.Ser3214CysfsTer?)
n.9710_9711del
c.*5322_*5323del (n.*5322_*5323del)
c.9565_9566del (p.Ser3189CysfsTer?)
c.9637_9638del (p.Ser3213CysfsTer?)
c.9562_9563del (p.Ser3188CysfsTer?)
c.9262_9263del (p.Ser3088CysfsTer?)
c.6526_6527del (p.Ser2176CysfsTer?)
c.5419_5420del (p.Ser1807CysfsTer?)
c.9445_9446del (p.Ser3149CysfsTer?)
c.5197_5198del (p.Ser1733CysfsTer?)
c.8425_8426del (p.Ser2809CysfsTer?)
 ClinVar
8g.99832602G>ACA462458008VPS13Bc.9639G>A (p.Gln3213=)
n.9709G>A
c.*5321G>A (n.*5321G>A)
c.9564G>A (p.Gln3188=)
c.9636G>A (p.Gln3212=)
c.9561G>A (p.Gln3187=)
c.9261G>A (p.Gln3087=)
c.6525G>A (p.Gln2175=)
c.5418G>A (p.Gln1806=)
c.9444G>A (p.Gln3148=)
c.5196G>A (p.Gln1732=)
c.8424G>A (p.Gln2808=)
 COSMIC COSMIC
8g.99832602G>CCA371781913VPS13Bc.9639G>C (p.Gln3213His)
n.9709G>C
c.*5321G>C (n.*5321G>C)
c.9564G>C (p.Gln3188His)
c.9636G>C (p.Gln3212His)
c.9561G>C (p.Gln3187His)
c.9261G>C (p.Gln3087His)
c.6525G>C (p.Gln2175His)
c.5418G>C (p.Gln1806His)
c.9444G>C (p.Gln3148His)
c.5196G>C (p.Gln1732His)
c.8424G>C (p.Gln2808His)
8g.99832602G>TCA371781914VPS13Bc.9639G>T (p.Gln3213His)
n.9709G>T
c.*5321G>T (n.*5321G>T)
c.9564G>T (p.Gln3188His)
c.9636G>T (p.Gln3212His)
c.9561G>T (p.Gln3187His)
c.9261G>T (p.Gln3087His)
c.6525G>T (p.Gln2175His)
c.5418G>T (p.Gln1806His)
c.9444G>T (p.Gln3148His)
c.5196G>T (p.Gln1732His)
c.8424G>T (p.Gln2808His)
8g.99832603A>CCA371781915VPS13Bc.9640A>C (p.Ser3214Arg)
n.9710A>C
c.*5322A>C (n.*5322A>C)
c.9565A>C (p.Ser3189Arg)
c.9637A>C (p.Ser3213Arg)
c.9562A>C (p.Ser3188Arg)
c.9262A>C (p.Ser3088Arg)
c.6526A>C (p.Ser2176Arg)
c.5419A>C (p.Ser1807Arg)
c.9445A>C (p.Ser3149Arg)
c.5197A>C (p.Ser1733Arg)
c.8425A>C (p.Ser2809Arg)
8g.99832603A>GCA371781916VPS13Bc.9640A>G (p.Ser3214Gly)
n.9710A>G
c.*5322A>G (n.*5322A>G)
c.9565A>G (p.Ser3189Gly)
c.9637A>G (p.Ser3213Gly)
c.9562A>G (p.Ser3188Gly)
c.9262A>G (p.Ser3088Gly)
c.6526A>G (p.Ser2176Gly)
c.5419A>G (p.Ser1807Gly)
c.9445A>G (p.Ser3149Gly)
c.5197A>G (p.Ser1733Gly)
c.8425A>G (p.Ser2809Gly)
8g.99832603A>TCA371781917VPS13Bc.9640A>T (p.Ser3214Cys)
n.9710A>T
c.*5322A>T (n.*5322A>T)
c.9565A>T (p.Ser3189Cys)
c.9637A>T (p.Ser3213Cys)
c.9562A>T (p.Ser3188Cys)
c.9262A>T (p.Ser3088Cys)
c.6526A>T (p.Ser2176Cys)
c.5419A>T (p.Ser1807Cys)
c.9445A>T (p.Ser3149Cys)
c.5197A>T (p.Ser1733Cys)
c.8425A>T (p.Ser2809Cys)
8g.99832604G>ACA371781918VPS13Bc.9641G>A (p.Ser3214Asn)
n.9711G>A
c.*5323G>A (n.*5323G>A)
c.9566G>A (p.Ser3189Asn)
c.9638G>A (p.Ser3213Asn)
c.9563G>A (p.Ser3188Asn)
c.9263G>A (p.Ser3088Asn)
c.6527G>A (p.Ser2176Asn)
c.5420G>A (p.Ser1807Asn)
c.9446G>A (p.Ser3149Asn)
c.5198G>A (p.Ser1733Asn)
c.8426G>A (p.Ser2809Asn)
8g.99832604G>CCA371781919VPS13Bc.9641G>C (p.Ser3214Thr)
n.9711G>C
c.*5323G>C (n.*5323G>C)
c.9566G>C (p.Ser3189Thr)
c.9638G>C (p.Ser3213Thr)
c.9563G>C (p.Ser3188Thr)
c.9263G>C (p.Ser3088Thr)
c.6527G>C (p.Ser2176Thr)
c.5420G>C (p.Ser1807Thr)
c.9446G>C (p.Ser3149Thr)
c.5198G>C (p.Ser1733Thr)
c.8426G>C (p.Ser2809Thr)
8g.99832604G>TCA371781920VPS13Bc.9641G>T (p.Ser3214Ile)
n.9711G>T
c.*5323G>T (n.*5323G>T)
c.9566G>T (p.Ser3189Ile)
c.9638G>T (p.Ser3213Ile)
c.9563G>T (p.Ser3188Ile)
c.9263G>T (p.Ser3088Ile)
c.6527G>T (p.Ser2176Ile)
c.5420G>T (p.Ser1807Ile)
c.9446G>T (p.Ser3149Ile)
c.5198G>T (p.Ser1733Ile)
c.8426G>T (p.Ser2809Ile)
8g.99832605T>ACA371781921VPS13Bc.9642T>A (p.Ser3214Arg)
n.9712T>A
c.*5324T>A (n.*5324T>A)
c.9567T>A (p.Ser3189Arg)
c.9639T>A (p.Ser3213Arg)
c.9564T>A (p.Ser3188Arg)
c.9264T>A (p.Ser3088Arg)
c.6528T>A (p.Ser2176Arg)
c.5421T>A (p.Ser1807Arg)
c.9447T>A (p.Ser3149Arg)
c.5199T>A (p.Ser1733Arg)
c.8427T>A (p.Ser2809Arg)
8g.99832605T>CCA462458014VPS13Bc.9642T>C (p.Ser3214=)
n.9712T>C
c.*5324T>C (n.*5324T>C)
c.9567T>C (p.Ser3189=)
c.9639T>C (p.Ser3213=)
c.9564T>C (p.Ser3188=)
c.9264T>C (p.Ser3088=)
c.6528T>C (p.Ser2176=)
c.5421T>C (p.Ser1807=)
c.9447T>C (p.Ser3149=)
c.5199T>C (p.Ser1733=)
c.8427T>C (p.Ser2809=)
 ClinVar dbSNP
8g.99832605T>GCA371781922VPS13Bc.9642T>G (p.Ser3214Arg)
n.9712T>G
c.*5324T>G (n.*5324T>G)
c.9567T>G (p.Ser3189Arg)
c.9639T>G (p.Ser3213Arg)
c.9564T>G (p.Ser3188Arg)
c.9264T>G (p.Ser3088Arg)
c.6528T>G (p.Ser2176Arg)
c.5421T>G (p.Ser1807Arg)
c.9447T>G (p.Ser3149Arg)
c.5199T>G (p.Ser1733Arg)
c.8427T>G (p.Ser2809Arg)
8g.99832606G>ACA371781924VPS13Bc.9643G>A (p.Val3215Met)
n.9713G>A
c.*5325G>A (n.*5325G>A)
c.9568G>A (p.Val3190Met)
c.9640G>A (p.Val3214Met)
c.9565G>A (p.Val3189Met)
c.9265G>A (p.Val3089Met)
c.6529G>A (p.Val2177Met)
c.5422G>A (p.Val1808Met)
c.9448G>A (p.Val3150Met)
c.5200G>A (p.Val1734Met)
c.8428G>A (p.Val2810Met)
 gnomAD v4
8g.99832606G>CCA4824726VPS13Bc.9643G>C (p.Val3215Leu)
n.9713G>C
c.*5325G>C (n.*5325G>C)
c.9568G>C (p.Val3190Leu)
c.9640G>C (p.Val3214Leu)
c.9565G>C (p.Val3189Leu)
c.9265G>C (p.Val3089Leu)
c.6529G>C (p.Val2177Leu)
c.5422G>C (p.Val1808Leu)
c.9448G>C (p.Val3150Leu)
c.5200G>C (p.Val1734Leu)
c.8428G>C (p.Val2810Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832606G>TCA371781923VPS13Bc.9643G>T (p.Val3215Leu)
n.9713G>T
c.*5325G>T (n.*5325G>T)
c.9568G>T (p.Val3190Leu)
c.9640G>T (p.Val3214Leu)
c.9565G>T (p.Val3189Leu)
c.9265G>T (p.Val3089Leu)
c.6529G>T (p.Val2177Leu)
c.5422G>T (p.Val1808Leu)
c.9448G>T (p.Val3150Leu)
c.5200G>T (p.Val1734Leu)
c.8428G>T (p.Val2810Leu)
8g.99832607T>ACA371781925VPS13Bc.9644T>A (p.Val3215Glu)
n.9714T>A
c.*5326T>A (n.*5326T>A)
c.9569T>A (p.Val3190Glu)
c.9641T>A (p.Val3214Glu)
c.9566T>A (p.Val3189Glu)
c.9266T>A (p.Val3089Glu)
c.6530T>A (p.Val2177Glu)
c.5423T>A (p.Val1808Glu)
c.9449T>A (p.Val3150Glu)
c.5201T>A (p.Val1734Glu)
c.8429T>A (p.Val2810Glu)
8g.99832607T>CCA371781926VPS13Bc.9644T>C (p.Val3215Ala)
n.9714T>C
c.*5326T>C (n.*5326T>C)
c.9569T>C (p.Val3190Ala)
c.9641T>C (p.Val3214Ala)
c.9566T>C (p.Val3189Ala)
c.9266T>C (p.Val3089Ala)
c.6530T>C (p.Val2177Ala)
c.5423T>C (p.Val1808Ala)
c.9449T>C (p.Val3150Ala)
c.5201T>C (p.Val1734Ala)
c.8429T>C (p.Val2810Ala)
 dbSNP gnomAD v2
8g.99832607T>GCA371781927VPS13Bc.9644T>G (p.Val3215Gly)
n.9714T>G
c.*5326T>G (n.*5326T>G)
c.9569T>G (p.Val3190Gly)
c.9641T>G (p.Val3214Gly)
c.9566T>G (p.Val3189Gly)
c.9266T>G (p.Val3089Gly)
c.6530T>G (p.Val2177Gly)
c.5423T>G (p.Val1808Gly)
c.9449T>G (p.Val3150Gly)
c.5201T>G (p.Val1734Gly)
c.8429T>G (p.Val2810Gly)
8g.99832608G>ACA462458016VPS13Bc.9645G>A (p.Val3215=)
n.9715G>A
c.*5327G>A (n.*5327G>A)
c.9570G>A (p.Val3190=)
c.9642G>A (p.Val3214=)
c.9567G>A (p.Val3189=)
c.9267G>A (p.Val3089=)
c.6531G>A (p.Val2177=)
c.5424G>A (p.Val1808=)
c.9450G>A (p.Val3150=)
c.5202G>A (p.Val1734=)
c.8430G>A (p.Val2810=)
8g.99832608G>CCA462458017VPS13Bc.9645G>C (p.Val3215=)
n.9715G>C
c.*5327G>C (n.*5327G>C)
c.9570G>C (p.Val3190=)
c.9642G>C (p.Val3214=)
c.9567G>C (p.Val3189=)
c.9267G>C (p.Val3089=)
c.6531G>C (p.Val2177=)
c.5424G>C (p.Val1808=)
c.9450G>C (p.Val3150=)
c.5202G>C (p.Val1734=)
c.8430G>C (p.Val2810=)
8g.99832608G>TCA462458018VPS13Bc.9645G>T (p.Val3215=)
n.9715G>T
c.*5327G>T (n.*5327G>T)
c.9570G>T (p.Val3190=)
c.9642G>T (p.Val3214=)
c.9567G>T (p.Val3189=)
c.9267G>T (p.Val3089=)
c.6531G>T (p.Val2177=)
c.5424G>T (p.Val1808=)
c.9450G>T (p.Val3150=)
c.5202G>T (p.Val1734=)
c.8430G>T (p.Val2810=)
8g.99832609G>ACA4824727VPS13Bc.9646G>A (p.Ala3216Thr)
n.9716G>A
c.*5328G>A (n.*5328G>A)
c.9571G>A (p.Ala3191Thr)
c.9643G>A (p.Ala3215Thr)
c.9568G>A (p.Ala3190Thr)
c.9268G>A (p.Ala3090Thr)
c.6532G>A (p.Ala2178Thr)
c.5425G>A (p.Ala1809Thr)
c.9451G>A (p.Ala3151Thr)
c.5203G>A (p.Ala1735Thr)
c.8431G>A (p.Ala2811Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832609G>CCA371781928VPS13Bc.9646G>C (p.Ala3216Pro)
n.9716G>C
c.*5328G>C (n.*5328G>C)
c.9571G>C (p.Ala3191Pro)
c.9643G>C (p.Ala3215Pro)
c.9568G>C (p.Ala3190Pro)
c.9268G>C (p.Ala3090Pro)
c.6532G>C (p.Ala2178Pro)
c.5425G>C (p.Ala1809Pro)
c.9451G>C (p.Ala3151Pro)
c.5203G>C (p.Ala1735Pro)
c.8431G>C (p.Ala2811Pro)
8g.99832609G>TCA371781929VPS13Bc.9646G>T (p.Ala3216Ser)
n.9716G>T
c.*5328G>T (n.*5328G>T)
c.9571G>T (p.Ala3191Ser)
c.9643G>T (p.Ala3215Ser)
c.9568G>T (p.Ala3190Ser)
c.9268G>T (p.Ala3090Ser)
c.6532G>T (p.Ala2178Ser)
c.5425G>T (p.Ala1809Ser)
c.9451G>T (p.Ala3151Ser)
c.5203G>T (p.Ala1735Ser)
c.8431G>T (p.Ala2811Ser)
8g.99832610C>ACA371781930VPS13Bc.9647C>A (p.Ala3216Glu)
n.9717C>A
c.*5329C>A (n.*5329C>A)
c.9572C>A (p.Ala3191Glu)
c.9644C>A (p.Ala3215Glu)
c.9569C>A (p.Ala3190Glu)
c.9269C>A (p.Ala3090Glu)
c.6533C>A (p.Ala2178Glu)
c.5426C>A (p.Ala1809Glu)
c.9452C>A (p.Ala3151Glu)
c.5204C>A (p.Ala1735Glu)
c.8432C>A (p.Ala2811Glu)
8g.99832610C>GCA371781931VPS13Bc.9647C>G (p.Ala3216Gly)
n.9717C>G
c.*5329C>G (n.*5329C>G)
c.9572C>G (p.Ala3191Gly)
c.9644C>G (p.Ala3215Gly)
c.9569C>G (p.Ala3190Gly)
c.9269C>G (p.Ala3090Gly)
c.6533C>G (p.Ala2178Gly)
c.5426C>G (p.Ala1809Gly)
c.9452C>G (p.Ala3151Gly)
c.5204C>G (p.Ala1735Gly)
c.8432C>G (p.Ala2811Gly)
 ClinVar dbSNP gnomAD v4
8g.99832610C>TCA371781932VPS13Bc.9647C>T (p.Ala3216Val)
n.9717C>T
c.*5329C>T (n.*5329C>T)
c.9572C>T (p.Ala3191Val)
c.9644C>T (p.Ala3215Val)
c.9569C>T (p.Ala3190Val)
c.9269C>T (p.Ala3090Val)
c.6533C>T (p.Ala2178Val)
c.5426C>T (p.Ala1809Val)
c.9452C>T (p.Ala3151Val)
c.5204C>T (p.Ala1735Val)
c.8432C>T (p.Ala2811Val)
8g.99832611A>CCA462458020VPS13Bc.9648A>C (p.Ala3216=)
n.9718A>C
c.*5330A>C (n.*5330A>C)
c.9573A>C (p.Ala3191=)
c.9645A>C (p.Ala3215=)
c.9570A>C (p.Ala3190=)
c.9270A>C (p.Ala3090=)
c.6534A>C (p.Ala2178=)
c.5427A>C (p.Ala1809=)
c.9453A>C (p.Ala3151=)
c.5205A>C (p.Ala1735=)
c.8433A>C (p.Ala2811=)
8g.99832611A>GCA4824728VPS13Bc.9648A>G (p.Ala3216=)
n.9718A>G
c.*5330A>G (n.*5330A>G)
c.9573A>G (p.Ala3191=)
c.9645A>G (p.Ala3215=)
c.9570A>G (p.Ala3190=)
c.9270A>G (p.Ala3090=)
c.6534A>G (p.Ala2178=)
c.5427A>G (p.Ala1809=)
c.9453A>G (p.Ala3151=)
c.5205A>G (p.Ala1735=)
c.8433A>G (p.Ala2811=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832611A>TCA462458022VPS13Bc.9648A>T (p.Ala3216=)
n.9718A>T
c.*5330A>T (n.*5330A>T)
c.9573A>T (p.Ala3191=)
c.9645A>T (p.Ala3215=)
c.9570A>T (p.Ala3190=)
c.9270A>T (p.Ala3090=)
c.6534A>T (p.Ala2178=)
c.5427A>T (p.Ala1809=)
c.9453A>T (p.Ala3151=)
c.5205A>T (p.Ala1735=)
c.8433A>T (p.Ala2811=)
 gnomAD v4
8g.99832612G>ACA371781933VPS13Bc.9649G>A (p.Val3217Ile)
n.9719G>A
c.*5331G>A (n.*5331G>A)
c.9574G>A (p.Val3192Ile)
c.9646G>A (p.Val3216Ile)
c.9571G>A (p.Val3191Ile)
c.9271G>A (p.Val3091Ile)
c.6535G>A (p.Val2179Ile)
c.5428G>A (p.Val1810Ile)
c.9454G>A (p.Val3152Ile)
c.5206G>A (p.Val1736Ile)
c.8434G>A (p.Val2812Ile)
8g.99832612G>CCA371781934VPS13Bc.9649G>C (p.Val3217Leu)
n.9719G>C
c.*5331G>C (n.*5331G>C)
c.9574G>C (p.Val3192Leu)
c.9646G>C (p.Val3216Leu)
c.9571G>C (p.Val3191Leu)
c.9271G>C (p.Val3091Leu)
c.6535G>C (p.Val2179Leu)
c.5428G>C (p.Val1810Leu)
c.9454G>C (p.Val3152Leu)
c.5206G>C (p.Val1736Leu)
c.8434G>C (p.Val2812Leu)
8g.99832612G>TCA371781935VPS13Bc.9649G>T (p.Val3217Leu)
n.9719G>T
c.*5331G>T (n.*5331G>T)
c.9574G>T (p.Val3192Leu)
c.9646G>T (p.Val3216Leu)
c.9571G>T (p.Val3191Leu)
c.9271G>T (p.Val3091Leu)
c.6535G>T (p.Val2179Leu)
c.5428G>T (p.Val1810Leu)
c.9454G>T (p.Val3152Leu)
c.5206G>T (p.Val1736Leu)
c.8434G>T (p.Val2812Leu)
 gnomAD v4
8g.99832613T>ACA371781937VPS13Bc.9650T>A (p.Val3217Glu)
n.9720T>A
c.*5332T>A (n.*5332T>A)
c.9575T>A (p.Val3192Glu)
c.9647T>A (p.Val3216Glu)
c.9572T>A (p.Val3191Glu)
c.9272T>A (p.Val3091Glu)
c.6536T>A (p.Val2179Glu)
c.5429T>A (p.Val1810Glu)
c.9455T>A (p.Val3152Glu)
c.5207T>A (p.Val1736Glu)
c.8435T>A (p.Val2812Glu)
8g.99832613T>CCA371781938VPS13Bc.9650T>C (p.Val3217Ala)
n.9720T>C
c.*5332T>C (n.*5332T>C)
c.9575T>C (p.Val3192Ala)
c.9647T>C (p.Val3216Ala)
c.9572T>C (p.Val3191Ala)
c.9272T>C (p.Val3091Ala)
c.6536T>C (p.Val2179Ala)
c.5429T>C (p.Val1810Ala)
c.9455T>C (p.Val3152Ala)
c.5207T>C (p.Val1736Ala)
c.8435T>C (p.Val2812Ala)
 dbSNP gnomAD v4
8g.99832613T>GCA371781936VPS13Bc.9650T>G (p.Val3217Gly)
n.9720T>G
c.*5332T>G (n.*5332T>G)
c.9575T>G (p.Val3192Gly)
c.9647T>G (p.Val3216Gly)
c.9572T>G (p.Val3191Gly)
c.9272T>G (p.Val3091Gly)
c.6536T>G (p.Val2179Gly)
c.5429T>G (p.Val1810Gly)
c.9455T>G (p.Val3152Gly)
c.5207T>G (p.Val1736Gly)
c.8435T>G (p.Val2812Gly)
8g.99832614A>CCA462458025VPS13Bc.9651A>C (p.Val3217=)
n.9721A>C
c.*5333A>C (n.*5333A>C)
c.9576A>C (p.Val3192=)
c.9648A>C (p.Val3216=)
c.9573A>C (p.Val3191=)
c.9273A>C (p.Val3091=)
c.6537A>C (p.Val2179=)
c.5430A>C (p.Val1810=)
c.9456A>C (p.Val3152=)
c.5208A>C (p.Val1736=)
c.8436A>C (p.Val2812=)
 gnomAD v4
8g.99832614A>GCA462458024VPS13Bc.9651A>G (p.Val3217=)
n.9721A>G
c.*5333A>G (n.*5333A>G)
c.9576A>G (p.Val3192=)
c.9648A>G (p.Val3216=)
c.9573A>G (p.Val3191=)
c.9273A>G (p.Val3091=)
c.6537A>G (p.Val2179=)
c.5430A>G (p.Val1810=)
c.9456A>G (p.Val3152=)
c.5208A>G (p.Val1736=)
c.8436A>G (p.Val2812=)
8g.99832614A>TCA462458023VPS13Bc.9651A>T (p.Val3217=)
n.9721A>T
c.*5333A>T (n.*5333A>T)
c.9576A>T (p.Val3192=)
c.9648A>T (p.Val3216=)
c.9573A>T (p.Val3191=)
c.9273A>T (p.Val3091=)
c.6537A>T (p.Val2179=)
c.5430A>T (p.Val1810=)
c.9456A>T (p.Val3152=)
c.5208A>T (p.Val1736=)
c.8436A>T (p.Val2812=)
8g.99832615C>ACA371781939VPS13Bc.9652C>A (p.Pro3218Thr)
n.9722C>A
c.*5334C>A (n.*5334C>A)
c.9577C>A (p.Pro3193Thr)
c.9649C>A (p.Pro3217Thr)
c.9574C>A (p.Pro3192Thr)
c.9274C>A (p.Pro3092Thr)
c.6538C>A (p.Pro2180Thr)
c.5431C>A (p.Pro1811Thr)
c.9457C>A (p.Pro3153Thr)
c.5209C>A (p.Pro1737Thr)
c.8437C>A (p.Pro2813Thr)
 gnomAD v4
8g.99832615C>GCA182337331VPS13Bc.9652C>G (p.Pro3218Ala)
n.9722C>G
c.*5334C>G (n.*5334C>G)
c.9577C>G (p.Pro3193Ala)
c.9649C>G (p.Pro3217Ala)
c.9574C>G (p.Pro3192Ala)
c.9274C>G (p.Pro3092Ala)
c.6538C>G (p.Pro2180Ala)
c.5431C>G (p.Pro1811Ala)
c.9457C>G (p.Pro3153Ala)
c.5209C>G (p.Pro1737Ala)
c.8437C>G (p.Pro2813Ala)
 dbSNP
8g.99832615C>TCA371781940VPS13Bc.9652C>T (p.Pro3218Ser)
n.9722C>T
c.*5334C>T (n.*5334C>T)
c.9577C>T (p.Pro3193Ser)
c.9649C>T (p.Pro3217Ser)
c.9574C>T (p.Pro3192Ser)
c.9274C>T (p.Pro3092Ser)
c.6538C>T (p.Pro2180Ser)
c.5431C>T (p.Pro1811Ser)
c.9457C>T (p.Pro3153Ser)
c.5209C>T (p.Pro1737Ser)
c.8437C>T (p.Pro2813Ser)
 gnomAD v4
8g.99832618dupCA2695209912VPS13Bc.9655dup (p.Leu3219ProfsTer?)
n.9725dup
c.*5337dup (n.*5337dup)
c.9580dup (p.Leu3194ProfsTer?)
c.9652dup (p.Leu3218ProfsTer?)
c.9577dup (p.Leu3193ProfsTer?)
c.9277dup (p.Leu3093ProfsTer?)
c.6541dup (p.Leu2181ProfsTer?)
c.5434dup (p.Leu1812ProfsTer?)
c.9460dup (p.Leu3154ProfsTer?)
c.5212dup (p.Leu1738ProfsTer?)
c.8440dup (p.Leu2814ProfsTer?)
8g.99832616C>ACA371781941VPS13Bc.9653C>A (p.Pro3218His)
n.9723C>A
c.*5335C>A (n.*5335C>A)
c.9578C>A (p.Pro3193His)
c.9650C>A (p.Pro3217His)
c.9575C>A (p.Pro3192His)
c.9275C>A (p.Pro3092His)
c.6539C>A (p.Pro2180His)
c.5432C>A (p.Pro1811His)
c.9458C>A (p.Pro3153His)
c.5210C>A (p.Pro1737His)
c.8438C>A (p.Pro2813His)
8g.99832616C>GCA371781942VPS13Bc.9653C>G (p.Pro3218Arg)
n.9723C>G
c.*5335C>G (n.*5335C>G)
c.9578C>G (p.Pro3193Arg)
c.9650C>G (p.Pro3217Arg)
c.9575C>G (p.Pro3192Arg)
c.9275C>G (p.Pro3092Arg)
c.6539C>G (p.Pro2180Arg)
c.5432C>G (p.Pro1811Arg)
c.9458C>G (p.Pro3153Arg)
c.5210C>G (p.Pro1737Arg)
c.8438C>G (p.Pro2813Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99832616C>TCA371781943VPS13Bc.9653C>T (p.Pro3218Leu)
n.9723C>T
c.*5335C>T (n.*5335C>T)
c.9578C>T (p.Pro3193Leu)
c.9650C>T (p.Pro3217Leu)
c.9575C>T (p.Pro3192Leu)
c.9275C>T (p.Pro3092Leu)
c.6539C>T (p.Pro2180Leu)
c.5432C>T (p.Pro1811Leu)
c.9458C>T (p.Pro3153Leu)
c.5210C>T (p.Pro1737Leu)
c.8438C>T (p.Pro2813Leu)
8g.99832617C>ACA462458026VPS13Bc.9654C>A (p.Pro3218=)
n.9724C>A
c.*5336C>A (n.*5336C>A)
c.9579C>A (p.Pro3193=)
c.9651C>A (p.Pro3217=)
c.9576C>A (p.Pro3192=)
c.9276C>A (p.Pro3092=)
c.6540C>A (p.Pro2180=)
c.5433C>A (p.Pro1811=)
c.9459C>A (p.Pro3153=)
c.5211C>A (p.Pro1737=)
c.8439C>A (p.Pro2813=)
8g.99832617C>GCA462458027VPS13Bc.9654C>G (p.Pro3218=)
n.9724C>G
c.*5336C>G (n.*5336C>G)
c.9579C>G (p.Pro3193=)
c.9651C>G (p.Pro3217=)
c.9576C>G (p.Pro3192=)
c.9276C>G (p.Pro3092=)
c.6540C>G (p.Pro2180=)
c.5433C>G (p.Pro1811=)
c.9459C>G (p.Pro3153=)
c.5211C>G (p.Pro1737=)
c.8439C>G (p.Pro2813=)
8g.99832617C>TCA462458028VPS13Bc.9654C>T (p.Pro3218=)
n.9724C>T
c.*5336C>T (n.*5336C>T)
c.9579C>T (p.Pro3193=)
c.9651C>T (p.Pro3217=)
c.9576C>T (p.Pro3192=)
c.9276C>T (p.Pro3092=)
c.6540C>T (p.Pro2180=)
c.5433C>T (p.Pro1811=)
c.9459C>T (p.Pro3153=)
c.5211C>T (p.Pro1737=)
c.8439C>T (p.Pro2813=)
 ClinVar dbSNP gnomAD v4
8g.99832618C>ACA371781944VPS13Bc.9655C>A (p.Leu3219Ile)
n.9725C>A
c.*5337C>A (n.*5337C>A)
c.9580C>A (p.Leu3194Ile)
c.9652C>A (p.Leu3218Ile)
c.9577C>A (p.Leu3193Ile)
c.9277C>A (p.Leu3093Ile)
c.6541C>A (p.Leu2181Ile)
c.5434C>A (p.Leu1812Ile)
c.9460C>A (p.Leu3154Ile)
c.5212C>A (p.Leu1738Ile)
c.8440C>A (p.Leu2814Ile)
8g.99832618C>GCA371781945VPS13Bc.9655C>G (p.Leu3219Val)
n.9725C>G
c.*5337C>G (n.*5337C>G)
c.9580C>G (p.Leu3194Val)
c.9652C>G (p.Leu3218Val)
c.9577C>G (p.Leu3193Val)
c.9277C>G (p.Leu3093Val)
c.6541C>G (p.Leu2181Val)
c.5434C>G (p.Leu1812Val)
c.9460C>G (p.Leu3154Val)
c.5212C>G (p.Leu1738Val)
c.8440C>G (p.Leu2814Val)
8g.99832618C>TCA182337347VPS13Bc.9655C>T (p.Leu3219Phe)
n.9725C>T
c.*5337C>T (n.*5337C>T)
c.9580C>T (p.Leu3194Phe)
c.9652C>T (p.Leu3218Phe)
c.9577C>T (p.Leu3193Phe)
c.9277C>T (p.Leu3093Phe)
c.6541C>T (p.Leu2181Phe)
c.5434C>T (p.Leu1812Phe)
c.9460C>T (p.Leu3154Phe)
c.5212C>T (p.Leu1738Phe)
c.8440C>T (p.Leu2814Phe)
 dbSNP gnomAD v4
8g.99832619T>ACA371781946VPS13Bc.9656T>A (p.Leu3219His)
n.9726T>A
c.*5338T>A (n.*5338T>A)
c.9581T>A (p.Leu3194His)
c.9653T>A (p.Leu3218His)
c.9578T>A (p.Leu3193His)
c.9278T>A (p.Leu3093His)
c.6542T>A (p.Leu2181His)
c.5435T>A (p.Leu1812His)
c.9461T>A (p.Leu3154His)
c.5213T>A (p.Leu1738His)
c.8441T>A (p.Leu2814His)
8g.99832619T>CCA371781947VPS13Bc.9656T>C (p.Leu3219Pro)
n.9726T>C
c.*5338T>C (n.*5338T>C)
c.9581T>C (p.Leu3194Pro)
c.9653T>C (p.Leu3218Pro)
c.9578T>C (p.Leu3193Pro)
c.9278T>C (p.Leu3093Pro)
c.6542T>C (p.Leu2181Pro)
c.5435T>C (p.Leu1812Pro)
c.9461T>C (p.Leu3154Pro)
c.5213T>C (p.Leu1738Pro)
c.8441T>C (p.Leu2814Pro)
8g.99832619T>GCA371781948VPS13Bc.9656T>G (p.Leu3219Arg)
n.9726T>G
c.*5338T>G (n.*5338T>G)
c.9581T>G (p.Leu3194Arg)
c.9653T>G (p.Leu3218Arg)
c.9578T>G (p.Leu3193Arg)
c.9278T>G (p.Leu3093Arg)
c.6542T>G (p.Leu2181Arg)
c.5435T>G (p.Leu1812Arg)
c.9461T>G (p.Leu3154Arg)
c.5213T>G (p.Leu1738Arg)
c.8441T>G (p.Leu2814Arg)
8g.99832620C>ACA462458029VPS13Bc.9657C>A (p.Leu3219=)
n.9727C>A
c.*5339C>A (n.*5339C>A)
c.9582C>A (p.Leu3194=)
c.9654C>A (p.Leu3218=)
c.9579C>A (p.Leu3193=)
c.9279C>A (p.Leu3093=)
c.6543C>A (p.Leu2181=)
c.5436C>A (p.Leu1812=)
c.9462C>A (p.Leu3154=)
c.5214C>A (p.Leu1738=)
c.8442C>A (p.Leu2814=)
8g.99832620C>GCA462458030VPS13Bc.9657C>G (p.Leu3219=)
n.9727C>G
c.*5339C>G (n.*5339C>G)
c.9582C>G (p.Leu3194=)
c.9654C>G (p.Leu3218=)
c.9579C>G (p.Leu3193=)
c.9279C>G (p.Leu3093=)
c.6543C>G (p.Leu2181=)
c.5436C>G (p.Leu1812=)
c.9462C>G (p.Leu3154=)
c.5214C>G (p.Leu1738=)
c.8442C>G (p.Leu2814=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99832620C>TCA182337349VPS13Bc.9657C>T (p.Leu3219=)
n.9727C>T
c.*5339C>T (n.*5339C>T)
c.9582C>T (p.Leu3194=)
c.9654C>T (p.Leu3218=)
c.9579C>T (p.Leu3193=)
c.9279C>T (p.Leu3093=)
c.6543C>T (p.Leu2181=)
c.5436C>T (p.Leu1812=)
c.9462C>T (p.Leu3154=)
c.5214C>T (p.Leu1738=)
c.8442C>T (p.Leu2814=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99832621G>ACA4824729VPS13Bc.9658G>A (p.Gly3220Arg)
n.9728G>A
c.*5340G>A (n.*5340G>A)
c.9583G>A (p.Gly3195Arg)
c.9655G>A (p.Gly3219Arg)
c.9580G>A (p.Gly3194Arg)
c.9280G>A (p.Gly3094Arg)
c.6544G>A (p.Gly2182Arg)
c.5437G>A (p.Gly1813Arg)
c.9463G>A (p.Gly3155Arg)
c.5215G>A (p.Gly1739Arg)
c.8443G>A (p.Gly2815Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832621G>CCA371781950VPS13Bc.9658G>C (p.Gly3220Arg)
n.9728G>C
c.*5340G>C (n.*5340G>C)
c.9583G>C (p.Gly3195Arg)
c.9655G>C (p.Gly3219Arg)
c.9580G>C (p.Gly3194Arg)
c.9280G>C (p.Gly3094Arg)
c.6544G>C (p.Gly2182Arg)
c.5437G>C (p.Gly1813Arg)
c.9463G>C (p.Gly3155Arg)
c.5215G>C (p.Gly1739Arg)
c.8443G>C (p.Gly2815Arg)
8g.99832621G>TCA371781949VPS13Bc.9658G>T (p.Gly3220Trp)
n.9728G>T
c.*5340G>T (n.*5340G>T)
c.9583G>T (p.Gly3195Trp)
c.9655G>T (p.Gly3219Trp)
c.9580G>T (p.Gly3194Trp)
c.9280G>T (p.Gly3094Trp)
c.6544G>T (p.Gly2182Trp)
c.5437G>T (p.Gly1813Trp)
c.9463G>T (p.Gly3155Trp)
c.5215G>T (p.Gly1739Trp)
c.8443G>T (p.Gly2815Trp)
8g.99832621_99832622delinsAACA645558939VPS13Bc.9658_9659delinsAA (p.Gly3220Lys)
n.9728_9729delinsAA
c.*5340_*5341delinsAA (n.*5340_*5341delinsAA)
c.9583_9584delinsAA (p.Gly3195Lys)
c.9655_9656delinsAA (p.Gly3219Lys)
c.9580_9581delinsAA (p.Gly3194Lys)
c.9280_9281delinsAA (p.Gly3094Lys)
c.6544_6545delinsAA (p.Gly2182Lys)
c.5437_5438delinsAA (p.Gly1813Lys)
c.9463_9464delinsAA (p.Gly3155Lys)
c.5215_5216delinsAA (p.Gly1739Lys)
c.8443_8444delinsAA (p.Gly2815Lys)
 COSMIC COSMIC
8g.99832622G>ACA371781951VPS13Bc.9659G>A (p.Gly3220Glu)
n.9729G>A
c.*5341G>A (n.*5341G>A)
c.9584G>A (p.Gly3195Glu)
c.9656G>A (p.Gly3219Glu)
c.9581G>A (p.Gly3194Glu)
c.9281G>A (p.Gly3094Glu)
c.6545G>A (p.Gly2182Glu)
c.5438G>A (p.Gly1813Glu)
c.9464G>A (p.Gly3155Glu)
c.5216G>A (p.Gly1739Glu)
c.8444G>A (p.Gly2815Glu)
8g.99832622G>CCA371781952VPS13Bc.9659G>C (p.Gly3220Ala)
n.9729G>C
c.*5341G>C (n.*5341G>C)
c.9584G>C (p.Gly3195Ala)
c.9656G>C (p.Gly3219Ala)
c.9581G>C (p.Gly3194Ala)
c.9281G>C (p.Gly3094Ala)
c.6545G>C (p.Gly2182Ala)
c.5438G>C (p.Gly1813Ala)
c.9464G>C (p.Gly3155Ala)
c.5216G>C (p.Gly1739Ala)
c.8444G>C (p.Gly2815Ala)
8g.99832622G>TCA371781953VPS13Bc.9659G>T (p.Gly3220Val)
n.9729G>T
c.*5341G>T (n.*5341G>T)
c.9584G>T (p.Gly3195Val)
c.9656G>T (p.Gly3219Val)
c.9581G>T (p.Gly3194Val)
c.9281G>T (p.Gly3094Val)
c.6545G>T (p.Gly2182Val)
c.5438G>T (p.Gly1813Val)
c.9464G>T (p.Gly3155Val)
c.5216G>T (p.Gly1739Val)
c.8444G>T (p.Gly2815Val)
 ClinVar dbSNP
8g.99832622_99832623delinsATCA645558940VPS13Bc.9659_9660delinsAT (p.Gly3220Asp)
n.9729_9730delinsAT
c.*5341_*5342delinsAT (n.*5341_*5342delinsAT)
c.9584_9585delinsAT (p.Gly3195Asp)
c.9656_9657delinsAT (p.Gly3219Asp)
c.9581_9582delinsAT (p.Gly3194Asp)
c.9281_9282delinsAT (p.Gly3094Asp)
c.6545_6546delinsAT (p.Gly2182Asp)
c.5438_5439delinsAT (p.Gly1813Asp)
c.9464_9465delinsAT (p.Gly3155Asp)
c.5216_5217delinsAT (p.Gly1739Asp)
c.8444_8445delinsAT (p.Gly2815Asp)
 COSMIC COSMIC
8g.99832623G>ACA462458031VPS13Bc.9660G>A (p.Gly3220=)
n.9730G>A
c.*5342G>A (n.*5342G>A)
c.9585G>A (p.Gly3195=)
c.9657G>A (p.Gly3219=)
c.9582G>A (p.Gly3194=)
c.9282G>A (p.Gly3094=)
c.6546G>A (p.Gly2182=)
c.5439G>A (p.Gly1813=)
c.9465G>A (p.Gly3155=)
c.5217G>A (p.Gly1739=)
c.8445G>A (p.Gly2815=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99832623G>CCA462458032VPS13Bc.9660G>C (p.Gly3220=)
n.9730G>C
c.*5342G>C (n.*5342G>C)
c.9585G>C (p.Gly3195=)
c.9657G>C (p.Gly3219=)
c.9582G>C (p.Gly3194=)
c.9282G>C (p.Gly3094=)
c.6546G>C (p.Gly2182=)
c.5439G>C (p.Gly1813=)
c.9465G>C (p.Gly3155=)
c.5217G>C (p.Gly1739=)
c.8445G>C (p.Gly2815=)
8g.99832623G>TCA462458033VPS13Bc.9660G>T (p.Gly3220=)
n.9730G>T
c.*5342G>T (n.*5342G>T)
c.9585G>T (p.Gly3195=)
c.9657G>T (p.Gly3219=)
c.9582G>T (p.Gly3194=)
c.9282G>T (p.Gly3094=)
c.6546G>T (p.Gly2182=)
c.5439G>T (p.Gly1813=)
c.9465G>T (p.Gly3155=)
c.5217G>T (p.Gly1739=)
c.8445G>T (p.Gly2815=)
 ClinVar dbSNP
8g.99832624A>CCA371781954VPS13Bc.9661A>C (p.Asn3221His)
n.9731A>C
c.*5343A>C (n.*5343A>C)
c.9586A>C (p.Asn3196His)
c.9658A>C (p.Asn3220His)
c.9583A>C (p.Asn3195His)
c.9283A>C (p.Asn3095His)
c.6547A>C (p.Asn2183His)
c.5440A>C (p.Asn1814His)
c.9466A>C (p.Asn3156His)
c.5218A>C (p.Asn1740His)
c.8446A>C (p.Asn2816His)
8g.99832624A>GCA371781955VPS13Bc.9661A>G (p.Asn3221Asp)
n.9731A>G
c.*5343A>G (n.*5343A>G)
c.9586A>G (p.Asn3196Asp)
c.9658A>G (p.Asn3220Asp)
c.9583A>G (p.Asn3195Asp)
c.9283A>G (p.Asn3095Asp)
c.6547A>G (p.Asn2183Asp)
c.5440A>G (p.Asn1814Asp)
c.9466A>G (p.Asn3156Asp)
c.5218A>G (p.Asn1740Asp)
c.8446A>G (p.Asn2816Asp)
8g.99832624A>TCA371781956VPS13Bc.9661A>T (p.Asn3221Tyr)
n.9731A>T
c.*5343A>T (n.*5343A>T)
c.9586A>T (p.Asn3196Tyr)
c.9658A>T (p.Asn3220Tyr)
c.9583A>T (p.Asn3195Tyr)
c.9283A>T (p.Asn3095Tyr)
c.6547A>T (p.Asn2183Tyr)
c.5440A>T (p.Asn1814Tyr)
c.9466A>T (p.Asn3156Tyr)
c.5218A>T (p.Asn1740Tyr)
c.8446A>T (p.Asn2816Tyr)
8g.99832625A>CCA371781957VPS13Bc.9662A>C (p.Asn3221Thr)
n.9732A>C
c.*5344A>C (n.*5344A>C)
c.9587A>C (p.Asn3196Thr)
c.9659A>C (p.Asn3220Thr)
c.9584A>C (p.Asn3195Thr)
c.9284A>C (p.Asn3095Thr)
c.6548A>C (p.Asn2183Thr)
c.5441A>C (p.Asn1814Thr)
c.9467A>C (p.Asn3156Thr)
c.5219A>C (p.Asn1740Thr)
c.8447A>C (p.Asn2816Thr)
8g.99832625A>GCA371781958VPS13Bc.9662A>G (p.Asn3221Ser)
n.9732A>G
c.*5344A>G (n.*5344A>G)
c.9587A>G (p.Asn3196Ser)
c.9659A>G (p.Asn3220Ser)
c.9584A>G (p.Asn3195Ser)
c.9284A>G (p.Asn3095Ser)
c.6548A>G (p.Asn2183Ser)
c.5441A>G (p.Asn1814Ser)
c.9467A>G (p.Asn3156Ser)
c.5219A>G (p.Asn1740Ser)
c.8447A>G (p.Asn2816Ser)
8g.99832625A>TCA371781959VPS13Bc.9662A>T (p.Asn3221Ile)
n.9732A>T
c.*5344A>T (n.*5344A>T)
c.9587A>T (p.Asn3196Ile)
c.9659A>T (p.Asn3220Ile)
c.9584A>T (p.Asn3195Ile)
c.9284A>T (p.Asn3095Ile)
c.6548A>T (p.Asn2183Ile)
c.5441A>T (p.Asn1814Ile)
c.9467A>T (p.Asn3156Ile)
c.5219A>T (p.Asn1740Ile)
c.8447A>T (p.Asn2816Ile)
8g.99832626T>ACA371781961VPS13Bc.9663T>A (p.Asn3221Lys)
n.9733T>A
c.*5345T>A (n.*5345T>A)
c.9588T>A (p.Asn3196Lys)
c.9660T>A (p.Asn3220Lys)
c.9585T>A (p.Asn3195Lys)
c.9285T>A (p.Asn3095Lys)
c.6549T>A (p.Asn2183Lys)
c.5442T>A (p.Asn1814Lys)
c.9468T>A (p.Asn3156Lys)
c.5220T>A (p.Asn1740Lys)
c.8448T>A (p.Asn2816Lys)
8g.99832626T>CCA4824730VPS13Bc.9663T>C (p.Asn3221=)
n.9733T>C
c.*5345T>C (n.*5345T>C)
c.9588T>C (p.Asn3196=)
c.9660T>C (p.Asn3220=)
c.9585T>C (p.Asn3195=)
c.9285T>C (p.Asn3095=)
c.6549T>C (p.Asn2183=)
c.5442T>C (p.Asn1814=)
c.9468T>C (p.Asn3156=)
c.5220T>C (p.Asn1740=)
c.8448T>C (p.Asn2816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832626T>GCA371781960VPS13Bc.9663T>G (p.Asn3221Lys)
n.9733T>G
c.*5345T>G (n.*5345T>G)
c.9588T>G (p.Asn3196Lys)
c.9660T>G (p.Asn3220Lys)
c.9585T>G (p.Asn3195Lys)
c.9285T>G (p.Asn3095Lys)
c.6549T>G (p.Asn2183Lys)
c.5442T>G (p.Asn1814Lys)
c.9468T>G (p.Asn3156Lys)
c.5220T>G (p.Asn1740Lys)
c.8448T>G (p.Asn2816Lys)
8g.99832627T>ACA371781962VPS13Bc.9664T>A (p.Phe3222Ile)
n.9734T>A
c.*5346T>A (n.*5346T>A)
c.9589T>A (p.Phe3197Ile)
c.9661T>A (p.Phe3221Ile)
c.9586T>A (p.Phe3196Ile)
c.9286T>A (p.Phe3096Ile)
c.6550T>A (p.Phe2184Ile)
c.5443T>A (p.Phe1815Ile)
c.9469T>A (p.Phe3157Ile)
c.5221T>A (p.Phe1741Ile)
c.8449T>A (p.Phe2817Ile)
8g.99832627T>CCA371781963VPS13Bc.9664T>C (p.Phe3222Leu)
n.9734T>C
c.*5346T>C (n.*5346T>C)
c.9589T>C (p.Phe3197Leu)
c.9661T>C (p.Phe3221Leu)
c.9586T>C (p.Phe3196Leu)
c.9286T>C (p.Phe3096Leu)
c.6550T>C (p.Phe2184Leu)
c.5443T>C (p.Phe1815Leu)
c.9469T>C (p.Phe3157Leu)
c.5221T>C (p.Phe1741Leu)
c.8449T>C (p.Phe2817Leu)
8g.99832627T>GCA371781964VPS13Bc.9664T>G (p.Phe3222Val)
n.9734T>G
c.*5346T>G (n.*5346T>G)
c.9589T>G (p.Phe3197Val)
c.9661T>G (p.Phe3221Val)
c.9586T>G (p.Phe3196Val)
c.9286T>G (p.Phe3096Val)
c.6550T>G (p.Phe2184Val)
c.5443T>G (p.Phe1815Val)
c.9469T>G (p.Phe3157Val)
c.5221T>G (p.Phe1741Val)
c.8449T>G (p.Phe2817Val)
8g.99832628T>ACA371781965VPS13Bc.9665T>A (p.Phe3222Tyr)
n.9735T>A
c.*5347T>A (n.*5347T>A)
c.9590T>A (p.Phe3197Tyr)
c.9662T>A (p.Phe3221Tyr)
c.9587T>A (p.Phe3196Tyr)
c.9287T>A (p.Phe3096Tyr)
c.6551T>A (p.Phe2184Tyr)
c.5444T>A (p.Phe1815Tyr)
c.9470T>A (p.Phe3157Tyr)
c.5222T>A (p.Phe1741Tyr)
c.8450T>A (p.Phe2817Tyr)
8g.99832628T>CCA371781966VPS13Bc.9665T>C (p.Phe3222Ser)
n.9735T>C
c.*5347T>C (n.*5347T>C)
c.9590T>C (p.Phe3197Ser)
c.9662T>C (p.Phe3221Ser)
c.9587T>C (p.Phe3196Ser)
c.9287T>C (p.Phe3096Ser)
c.6551T>C (p.Phe2184Ser)
c.5444T>C (p.Phe1815Ser)
c.9470T>C (p.Phe3157Ser)
c.5222T>C (p.Phe1741Ser)
c.8450T>C (p.Phe2817Ser)
8g.99832628T>GCA371781967VPS13Bc.9665T>G (p.Phe3222Cys)
n.9735T>G
c.*5347T>G (n.*5347T>G)
c.9590T>G (p.Phe3197Cys)
c.9662T>G (p.Phe3221Cys)
c.9587T>G (p.Phe3196Cys)
c.9287T>G (p.Phe3096Cys)
c.6551T>G (p.Phe2184Cys)
c.5444T>G (p.Phe1815Cys)
c.9470T>G (p.Phe3157Cys)
c.5222T>G (p.Phe1741Cys)
c.8450T>G (p.Phe2817Cys)
8g.99832629C>ACA371781968VPS13Bc.9666C>A (p.Phe3222Leu)
n.9736C>A
c.*5348C>A (n.*5348C>A)
c.9591C>A (p.Phe3197Leu)
c.9663C>A (p.Phe3221Leu)
c.9588C>A (p.Phe3196Leu)
c.9288C>A (p.Phe3096Leu)
c.6552C>A (p.Phe2184Leu)
c.5445C>A (p.Phe1815Leu)
c.9471C>A (p.Phe3157Leu)
c.5223C>A (p.Phe1741Leu)
c.8451C>A (p.Phe2817Leu)
8g.99832629C>GCA371781969VPS13Bc.9666C>G (p.Phe3222Leu)
n.9736C>G
c.*5348C>G (n.*5348C>G)
c.9591C>G (p.Phe3197Leu)
c.9663C>G (p.Phe3221Leu)
c.9588C>G (p.Phe3196Leu)
c.9288C>G (p.Phe3096Leu)
c.6552C>G (p.Phe2184Leu)
c.5445C>G (p.Phe1815Leu)
c.9471C>G (p.Phe3157Leu)
c.5223C>G (p.Phe1741Leu)
c.8451C>G (p.Phe2817Leu)
8g.99832629C>TCA462458034VPS13Bc.9666C>T (p.Phe3222=)
n.9736C>T
c.*5348C>T (n.*5348C>T)
c.9591C>T (p.Phe3197=)
c.9663C>T (p.Phe3221=)
c.9588C>T (p.Phe3196=)
c.9288C>T (p.Phe3096=)
c.6552C>T (p.Phe2184=)
c.5445C>T (p.Phe1815=)
c.9471C>T (p.Phe3157=)
c.5223C>T (p.Phe1741=)
c.8451C>T (p.Phe2817=)
8g.99832630C>ACA182337360VPS13Bc.9667C>A (p.Arg3223=)
n.9737C>A
c.*5349C>A (n.*5349C>A)
c.9592C>A (p.Arg3198=)
c.9664C>A (p.Arg3222=)
c.9589C>A (p.Arg3197=)
c.9289C>A (p.Arg3097=)
c.6553C>A (p.Arg2185=)
c.5446C>A (p.Arg1816=)
c.9472C>A (p.Arg3158=)
c.5224C>A (p.Arg1742=)
c.8452C>A (p.Arg2818=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99832630C>GCA371781970VPS13Bc.9667C>G (p.Arg3223Gly)
n.9737C>G
c.*5349C>G (n.*5349C>G)
c.9592C>G (p.Arg3198Gly)
c.9664C>G (p.Arg3222Gly)
c.9589C>G (p.Arg3197Gly)
c.9289C>G (p.Arg3097Gly)
c.6553C>G (p.Arg2185Gly)
c.5446C>G (p.Arg1816Gly)
c.9472C>G (p.Arg3158Gly)
c.5224C>G (p.Arg1742Gly)
c.8452C>G (p.Arg2818Gly)
8g.99832630C>TCA148992VPS13Bc.9667C>T (p.Arg3223Trp)
n.9737C>T
c.*5349C>T (n.*5349C>T)
c.9592C>T (p.Arg3198Trp)
c.9664C>T (p.Arg3222Trp)
c.9589C>T (p.Arg3197Trp)
c.9289C>T (p.Arg3097Trp)
c.6553C>T (p.Arg2185Trp)
c.5446C>T (p.Arg1816Trp)
c.9472C>T (p.Arg3158Trp)
c.5224C>T (p.Arg1742Trp)
c.8452C>T (p.Arg2818Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832631G>ACA206905VPS13Bc.9668G>A (p.Arg3223Gln)
n.9738G>A
c.*5350G>A (n.*5350G>A)
c.9593G>A (p.Arg3198Gln)
c.9665G>A (p.Arg3222Gln)
c.9590G>A (p.Arg3197Gln)
c.9290G>A (p.Arg3097Gln)
c.6554G>A (p.Arg2185Gln)
c.5447G>A (p.Arg1816Gln)
c.9473G>A (p.Arg3158Gln)
c.5225G>A (p.Arg1742Gln)
c.8453G>A (p.Arg2818Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.99832631G>CCA371781971VPS13Bc.9668G>C (p.Arg3223Pro)
n.9738G>C
c.*5350G>C (n.*5350G>C)
c.9593G>C (p.Arg3198Pro)
c.9665G>C (p.Arg3222Pro)
c.9590G>C (p.Arg3197Pro)
c.9290G>C (p.Arg3097Pro)
c.6554G>C (p.Arg2185Pro)
c.5447G>C (p.Arg1816Pro)
c.9473G>C (p.Arg3158Pro)
c.5225G>C (p.Arg1742Pro)
c.8453G>C (p.Arg2818Pro)
8g.99832631G>TCA371781972VPS13Bc.9668G>T (p.Arg3223Leu)
n.9738G>T
c.*5350G>T (n.*5350G>T)
c.9593G>T (p.Arg3198Leu)
c.9665G>T (p.Arg3222Leu)
c.9590G>T (p.Arg3197Leu)
c.9290G>T (p.Arg3097Leu)
c.6554G>T (p.Arg2185Leu)
c.5447G>T (p.Arg1816Leu)
c.9473G>T (p.Arg3158Leu)
c.5225G>T (p.Arg1742Leu)
c.8453G>T (p.Arg2818Leu)
8g.99832632G>ACA462458035VPS13Bc.9669G>A (p.Arg3223=)
n.9739G>A
c.*5351G>A (n.*5351G>A)
c.9594G>A (p.Arg3198=)
c.9666G>A (p.Arg3222=)
c.9591G>A (p.Arg3197=)
c.9291G>A (p.Arg3097=)
c.6555G>A (p.Arg2185=)
c.5448G>A (p.Arg1816=)
c.9474G>A (p.Arg3158=)
c.5226G>A (p.Arg1742=)
c.8454G>A (p.Arg2818=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.99832632G>CCA462458036VPS13Bc.9669G>C (p.Arg3223=)
n.9739G>C
c.*5351G>C (n.*5351G>C)
c.9594G>C (p.Arg3198=)
c.9666G>C (p.Arg3222=)
c.9591G>C (p.Arg3197=)
c.9291G>C (p.Arg3097=)
c.6555G>C (p.Arg2185=)
c.5448G>C (p.Arg1816=)
c.9474G>C (p.Arg3158=)
c.5226G>C (p.Arg1742=)
c.8454G>C (p.Arg2818=)
8g.99832632G>TCA462458037VPS13Bc.9669G>T (p.Arg3223=)
n.9739G>T
c.*5351G>T (n.*5351G>T)
c.9594G>T (p.Arg3198=)
c.9666G>T (p.Arg3222=)
c.9591G>T (p.Arg3197=)
c.9291G>T (p.Arg3097=)
c.6555G>T (p.Arg2185=)
c.5448G>T (p.Arg1816=)
c.9474G>T (p.Arg3158=)
c.5226G>T (p.Arg1742=)
c.8454G>T (p.Arg2818=)
8g.99832633G>ACA371781975VPS13Bc.9670G>A (p.Glu3224Lys)
n.9740G>A
c.*5352G>A (n.*5352G>A)
c.9595G>A (p.Glu3199Lys)
c.9667G>A (p.Glu3223Lys)
c.9592G>A (p.Glu3198Lys)
c.9292G>A (p.Glu3098Lys)
c.6556G>A (p.Glu2186Lys)
c.5449G>A (p.Glu1817Lys)
c.9475G>A (p.Glu3159Lys)
c.5227G>A (p.Glu1743Lys)
c.8455G>A (p.Glu2819Lys)
 gnomAD v4
8g.99832633G>CCA371781974VPS13Bc.9670G>C (p.Glu3224Gln)
n.9740G>C
c.*5352G>C (n.*5352G>C)
c.9595G>C (p.Glu3199Gln)
c.9667G>C (p.Glu3223Gln)
c.9592G>C (p.Glu3198Gln)
c.9292G>C (p.Glu3098Gln)
c.6556G>C (p.Glu2186Gln)
c.5449G>C (p.Glu1817Gln)
c.9475G>C (p.Glu3159Gln)
c.5227G>C (p.Glu1743Gln)
c.8455G>C (p.Glu2819Gln)
8g.99832633G>TCA371781973VPS13Bc.9670G>T (p.Glu3224Ter)
n.9740G>T
c.*5352G>T (n.*5352G>T)
c.9595G>T (p.Glu3199Ter)
c.9667G>T (p.Glu3223Ter)
c.9592G>T (p.Glu3198Ter)
c.9292G>T (p.Glu3098Ter)
c.6556G>T (p.Glu2186Ter)
c.5449G>T (p.Glu1817Ter)
c.9475G>T (p.Glu3159Ter)
c.5227G>T (p.Glu1743Ter)
c.8455G>T (p.Glu2819Ter)
8g.99832634A>CCA371781976VPS13Bc.9671A>C (p.Glu3224Ala)
n.9741A>C
c.*5353A>C (n.*5353A>C)
c.9596A>C (p.Glu3199Ala)
c.9668A>C (p.Glu3223Ala)
c.9593A>C (p.Glu3198Ala)
c.9293A>C (p.Glu3098Ala)
c.6557A>C (p.Glu2186Ala)
c.5450A>C (p.Glu1817Ala)
c.9476A>C (p.Glu3159Ala)
c.5228A>C (p.Glu1743Ala)
c.8456A>C (p.Glu2819Ala)
8g.99832634A>GCA371781977VPS13Bc.9671A>G (p.Glu3224Gly)
n.9741A>G
c.*5353A>G (n.*5353A>G)
c.9596A>G (p.Glu3199Gly)
c.9668A>G (p.Glu3223Gly)
c.9593A>G (p.Glu3198Gly)
c.9293A>G (p.Glu3098Gly)
c.6557A>G (p.Glu2186Gly)
c.5450A>G (p.Glu1817Gly)
c.9476A>G (p.Glu3159Gly)
c.5228A>G (p.Glu1743Gly)
c.8456A>G (p.Glu2819Gly)
 gnomAD v4
8g.99832634A>TCA371781978VPS13Bc.9671A>T (p.Glu3224Val)
n.9741A>T
c.*5353A>T (n.*5353A>T)
c.9596A>T (p.Glu3199Val)
c.9668A>T (p.Glu3223Val)
c.9593A>T (p.Glu3198Val)
c.9293A>T (p.Glu3098Val)
c.6557A>T (p.Glu2186Val)
c.5450A>T (p.Glu1817Val)
c.9476A>T (p.Glu3159Val)
c.5228A>T (p.Glu1743Val)
c.8456A>T (p.Glu2819Val)
8g.99832635A>CCA371781979VPS13Bc.9672A>C (p.Glu3224Asp)
n.9742A>C
c.*5354A>C (n.*5354A>C)
c.9597A>C (p.Glu3199Asp)
c.9669A>C (p.Glu3223Asp)
c.9594A>C (p.Glu3198Asp)
c.9294A>C (p.Glu3098Asp)
c.6558A>C (p.Glu2186Asp)
c.5451A>C (p.Glu1817Asp)
c.9477A>C (p.Glu3159Asp)
c.5229A>C (p.Glu1743Asp)
c.8457A>C (p.Glu2819Asp)
8g.99832635A>GCA4824731VPS13Bc.9672A>G (p.Glu3224=)
n.9742A>G
c.*5354A>G (n.*5354A>G)
c.9597A>G (p.Glu3199=)
c.9669A>G (p.Glu3223=)
c.9594A>G (p.Glu3198=)
c.9294A>G (p.Glu3098=)
c.6558A>G (p.Glu2186=)
c.5451A>G (p.Glu1817=)
c.9477A>G (p.Glu3159=)
c.5229A>G (p.Glu1743=)
c.8457A>G (p.Glu2819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832635A>TCA371781980VPS13Bc.9672A>T (p.Glu3224Asp)
n.9742A>T
c.*5354A>T (n.*5354A>T)
c.9597A>T (p.Glu3199Asp)
c.9669A>T (p.Glu3223Asp)
c.9594A>T (p.Glu3198Asp)
c.9294A>T (p.Glu3098Asp)
c.6558A>T (p.Glu2186Asp)
c.5451A>T (p.Glu1817Asp)
c.9477A>T (p.Glu3159Asp)
c.5229A>T (p.Glu1743Asp)
c.8457A>T (p.Glu2819Asp)
8g.99832636A>CCA371781981VPS13Bc.9673A>C (p.Asn3225His)
n.9743A>C
c.*5355A>C (n.*5355A>C)
c.9598A>C (p.Asn3200His)
c.9670A>C (p.Asn3224His)
c.9595A>C (p.Asn3199His)
c.9295A>C (p.Asn3099His)
c.6559A>C (p.Asn2187His)
c.5452A>C (p.Asn1818His)
c.9478A>C (p.Asn3160His)
c.5230A>C (p.Asn1744His)
c.8458A>C (p.Asn2820His)
8g.99832636A>GCA371781982VPS13Bc.9673A>G (p.Asn3225Asp)
n.9743A>G
c.*5355A>G (n.*5355A>G)
c.9598A>G (p.Asn3200Asp)
c.9670A>G (p.Asn3224Asp)
c.9595A>G (p.Asn3199Asp)
c.9295A>G (p.Asn3099Asp)
c.6559A>G (p.Asn2187Asp)
c.5452A>G (p.Asn1818Asp)
c.9478A>G (p.Asn3160Asp)
c.5230A>G (p.Asn1744Asp)
c.8458A>G (p.Asn2820Asp)
8g.99832636A>TCA371781983VPS13Bc.9673A>T (p.Asn3225Tyr)
n.9743A>T
c.*5355A>T (n.*5355A>T)
c.9598A>T (p.Asn3200Tyr)
c.9670A>T (p.Asn3224Tyr)
c.9595A>T (p.Asn3199Tyr)
c.9295A>T (p.Asn3099Tyr)
c.6559A>T (p.Asn2187Tyr)
c.5452A>T (p.Asn1818Tyr)
c.9478A>T (p.Asn3160Tyr)
c.5230A>T (p.Asn1744Tyr)
c.8458A>T (p.Asn2820Tyr)
8g.99832637A>CCA371781984VPS13Bc.9674A>C (p.Asn3225Thr)
n.9744A>C
c.*5356A>C (n.*5356A>C)
c.9599A>C (p.Asn3200Thr)
c.9671A>C (p.Asn3224Thr)
c.9596A>C (p.Asn3199Thr)
c.9296A>C (p.Asn3099Thr)
c.6560A>C (p.Asn2187Thr)
c.5453A>C (p.Asn1818Thr)
c.9479A>C (p.Asn3160Thr)
c.5231A>C (p.Asn1744Thr)
c.8459A>C (p.Asn2820Thr)
8g.99832637A>GCA371781985VPS13Bc.9674A>G (p.Asn3225Ser)
n.9744A>G
c.*5356A>G (n.*5356A>G)
c.9599A>G (p.Asn3200Ser)
c.9671A>G (p.Asn3224Ser)
c.9596A>G (p.Asn3199Ser)
c.9296A>G (p.Asn3099Ser)
c.6560A>G (p.Asn2187Ser)
c.5453A>G (p.Asn1818Ser)
c.9479A>G (p.Asn3160Ser)
c.5231A>G (p.Asn1744Ser)
c.8459A>G (p.Asn2820Ser)
 gnomAD v4
8g.99832637A>TCA371781986VPS13Bc.9674A>T (p.Asn3225Ile)
n.9744A>T
c.*5356A>T (n.*5356A>T)
c.9599A>T (p.Asn3200Ile)
c.9671A>T (p.Asn3224Ile)
c.9596A>T (p.Asn3199Ile)
c.9296A>T (p.Asn3099Ile)
c.6560A>T (p.Asn2187Ile)
c.5453A>T (p.Asn1818Ile)
c.9479A>T (p.Asn3160Ile)
c.5231A>T (p.Asn1744Ile)
c.8459A>T (p.Asn2820Ile)
8g.99832638T>ACA371781987VPS13Bc.9675T>A (p.Asn3225Lys)
n.9745T>A
c.*5357T>A (n.*5357T>A)
c.9600T>A (p.Asn3200Lys)
c.9672T>A (p.Asn3224Lys)
c.9597T>A (p.Asn3199Lys)
c.9297T>A (p.Asn3099Lys)
c.6561T>A (p.Asn2187Lys)
c.5454T>A (p.Asn1818Lys)
c.9480T>A (p.Asn3160Lys)
c.5232T>A (p.Asn1744Lys)
c.8460T>A (p.Asn2820Lys)
8g.99832638T>CCA462458038VPS13Bc.9675T>C (p.Asn3225=)
n.9745T>C
c.*5357T>C (n.*5357T>C)
c.9600T>C (p.Asn3200=)
c.9672T>C (p.Asn3224=)
c.9597T>C (p.Asn3199=)
c.9297T>C (p.Asn3099=)
c.6561T>C (p.Asn2187=)
c.5454T>C (p.Asn1818=)
c.9480T>C (p.Asn3160=)
c.5232T>C (p.Asn1744=)
c.8460T>C (p.Asn2820=)
8g.99832638T>GCA371781988VPS13Bc.9675T>G (p.Asn3225Lys)
n.9745T>G
c.*5357T>G (n.*5357T>G)
c.9600T>G (p.Asn3200Lys)
c.9672T>G (p.Asn3224Lys)
c.9597T>G (p.Asn3199Lys)
c.9297T>G (p.Asn3099Lys)
c.6561T>G (p.Asn2187Lys)
c.5454T>G (p.Asn1818Lys)
c.9480T>G (p.Asn3160Lys)
c.5232T>G (p.Asn1744Lys)
c.8460T>G (p.Asn2820Lys)
8g.99832639G>ACA371781990VPS13Bc.9676G>A (p.Gly3226Arg)
n.9746G>A
c.*5358G>A (n.*5358G>A)
c.9601G>A (p.Gly3201Arg)
c.9673G>A (p.Gly3225Arg)
c.9598G>A (p.Gly3200Arg)
c.9298G>A (p.Gly3100Arg)
c.6562G>A (p.Gly2188Arg)
c.5455G>A (p.Gly1819Arg)
c.9481G>A (p.Gly3161Arg)
c.5233G>A (p.Gly1745Arg)
c.8461G>A (p.Gly2821Arg)
8g.99832639G>CCA371781991VPS13Bc.9676G>C (p.Gly3226Arg)
n.9746G>C
c.*5358G>C (n.*5358G>C)
c.9601G>C (p.Gly3201Arg)
c.9673G>C (p.Gly3225Arg)
c.9598G>C (p.Gly3200Arg)
c.9298G>C (p.Gly3100Arg)
c.6562G>C (p.Gly2188Arg)
c.5455G>C (p.Gly1819Arg)
c.9481G>C (p.Gly3161Arg)
c.5233G>C (p.Gly1745Arg)
c.8461G>C (p.Gly2821Arg)
8g.99832639G>TCA371781989VPS13Bc.9676G>T (p.Gly3226Ter)
n.9746G>T
c.*5358G>T (n.*5358G>T)
c.9601G>T (p.Gly3201Ter)
c.9673G>T (p.Gly3225Ter)
c.9598G>T (p.Gly3200Ter)
c.9298G>T (p.Gly3100Ter)
c.6562G>T (p.Gly2188Ter)
c.5455G>T (p.Gly1819Ter)
c.9481G>T (p.Gly3161Ter)
c.5233G>T (p.Gly1745Ter)
c.8461G>T (p.Gly2821Ter)
8g.99832640G>ACA4824732VPS13Bc.9677G>A (p.Gly3226Glu)
n.9747G>A
c.*5359G>A (n.*5359G>A)
c.9602G>A (p.Gly3201Glu)
c.9674G>A (p.Gly3225Glu)
c.9599G>A (p.Gly3200Glu)
c.9299G>A (p.Gly3100Glu)
c.6563G>A (p.Gly2188Glu)
c.5456G>A (p.Gly1819Glu)
c.9482G>A (p.Gly3161Glu)
c.5234G>A (p.Gly1745Glu)
c.8462G>A (p.Gly2821Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832640G>CCA371781992VPS13Bc.9677G>C (p.Gly3226Ala)
n.9747G>C
c.*5359G>C (n.*5359G>C)
c.9602G>C (p.Gly3201Ala)
c.9674G>C (p.Gly3225Ala)
c.9599G>C (p.Gly3200Ala)
c.9299G>C (p.Gly3100Ala)
c.6563G>C (p.Gly2188Ala)
c.5456G>C (p.Gly1819Ala)
c.9482G>C (p.Gly3161Ala)
c.5234G>C (p.Gly1745Ala)
c.8462G>C (p.Gly2821Ala)
8g.99832640G>TCA371781993VPS13Bc.9677G>T (p.Gly3226Val)
n.9747G>T
c.*5359G>T (n.*5359G>T)
c.9602G>T (p.Gly3201Val)
c.9674G>T (p.Gly3225Val)
c.9599G>T (p.Gly3200Val)
c.9299G>T (p.Gly3100Val)
c.6563G>T (p.Gly2188Val)
c.5456G>T (p.Gly1819Val)
c.9482G>T (p.Gly3161Val)
c.5234G>T (p.Gly1745Val)
c.8462G>T (p.Gly2821Val)
8g.99832641A>CCA462458039VPS13Bc.9678A>C (p.Gly3226=)
n.9748A>C
c.*5360A>C (n.*5360A>C)
c.9603A>C (p.Gly3201=)
c.9675A>C (p.Gly3225=)
c.9600A>C (p.Gly3200=)
c.9300A>C (p.Gly3100=)
c.6564A>C (p.Gly2188=)
c.5457A>C (p.Gly1819=)
c.9483A>C (p.Gly3161=)
c.5235A>C (p.Gly1745=)
c.8463A>C (p.Gly2821=)
8g.99832641A>GCA4824733VPS13Bc.9678A>G (p.Gly3226=)
n.9748A>G
c.*5360A>G (n.*5360A>G)
c.9603A>G (p.Gly3201=)
c.9675A>G (p.Gly3225=)
c.9600A>G (p.Gly3200=)
c.9300A>G (p.Gly3100=)
c.6564A>G (p.Gly2188=)
c.5457A>G (p.Gly1819=)
c.9483A>G (p.Gly3161=)
c.5235A>G (p.Gly1745=)
c.8463A>G (p.Gly2821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832641A>TCA462458040VPS13Bc.9678A>T (p.Gly3226=)
n.9748A>T
c.*5360A>T (n.*5360A>T)
c.9603A>T (p.Gly3201=)
c.9675A>T (p.Gly3225=)
c.9600A>T (p.Gly3200=)
c.9300A>T (p.Gly3100=)
c.6564A>T (p.Gly2188=)
c.5457A>T (p.Gly1819=)
c.9483A>T (p.Gly3161=)
c.5235A>T (p.Gly1745=)
c.8463A>T (p.Gly2821=)
8g.99832642T>ACA371781994VPS13Bc.9679T>A (p.Phe3227Ile)
n.9749T>A
c.*5361T>A (n.*5361T>A)
c.9604T>A (p.Phe3202Ile)
c.9676T>A (p.Phe3226Ile)
c.9601T>A (p.Phe3201Ile)
c.9301T>A (p.Phe3101Ile)
c.6565T>A (p.Phe2189Ile)
c.5458T>A (p.Phe1820Ile)
c.9484T>A (p.Phe3162Ile)
c.5236T>A (p.Phe1746Ile)
c.8464T>A (p.Phe2822Ile)
 gnomAD v4
8g.99832642T>CCA371781995VPS13Bc.9679T>C (p.Phe3227Leu)
n.9749T>C
c.*5361T>C (n.*5361T>C)
c.9604T>C (p.Phe3202Leu)
c.9676T>C (p.Phe3226Leu)
c.9601T>C (p.Phe3201Leu)
c.9301T>C (p.Phe3101Leu)
c.6565T>C (p.Phe2189Leu)
c.5458T>C (p.Phe1820Leu)
c.9484T>C (p.Phe3162Leu)
c.5236T>C (p.Phe1746Leu)
c.8464T>C (p.Phe2822Leu)
8g.99832642T>GCA371781996VPS13Bc.9679T>G (p.Phe3227Val)
n.9749T>G
c.*5361T>G (n.*5361T>G)
c.9604T>G (p.Phe3202Val)
c.9676T>G (p.Phe3226Val)
c.9601T>G (p.Phe3201Val)
c.9301T>G (p.Phe3101Val)
c.6565T>G (p.Phe2189Val)
c.5458T>G (p.Phe1820Val)
c.9484T>G (p.Phe3162Val)
c.5236T>G (p.Phe1746Val)
c.8464T>G (p.Phe2822Val)
8g.99832643T>ACA371781997VPS13Bc.9680T>A (p.Phe3227Tyr)
n.9750T>A
c.*5362T>A (n.*5362T>A)
c.9605T>A (p.Phe3202Tyr)
c.9677T>A (p.Phe3226Tyr)
c.9602T>A (p.Phe3201Tyr)
c.9302T>A (p.Phe3101Tyr)
c.6566T>A (p.Phe2189Tyr)
c.5459T>A (p.Phe1820Tyr)
c.9485T>A (p.Phe3162Tyr)
c.5237T>A (p.Phe1746Tyr)
c.8465T>A (p.Phe2822Tyr)
8g.99832643T>CCA371781998VPS13Bc.9680T>C (p.Phe3227Ser)
n.9750T>C
c.*5362T>C (n.*5362T>C)
c.9605T>C (p.Phe3202Ser)
c.9677T>C (p.Phe3226Ser)
c.9602T>C (p.Phe3201Ser)
c.9302T>C (p.Phe3101Ser)
c.6566T>C (p.Phe2189Ser)
c.5459T>C (p.Phe1820Ser)
c.9485T>C (p.Phe3162Ser)
c.5237T>C (p.Phe1746Ser)
c.8465T>C (p.Phe2822Ser)
8g.99832643T>GCA371781999VPS13Bc.9680T>G (p.Phe3227Cys)
n.9750T>G
c.*5362T>G (n.*5362T>G)
c.9605T>G (p.Phe3202Cys)
c.9677T>G (p.Phe3226Cys)
c.9602T>G (p.Phe3201Cys)
c.9302T>G (p.Phe3101Cys)
c.6566T>G (p.Phe2189Cys)
c.5459T>G (p.Phe1820Cys)
c.9485T>G (p.Phe3162Cys)
c.5237T>G (p.Phe1746Cys)
c.8465T>G (p.Phe2822Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.99832644C>ACA371782000VPS13Bc.9681C>A (p.Phe3227Leu)
n.9751C>A
c.*5363C>A (n.*5363C>A)
c.9606C>A (p.Phe3202Leu)
c.9678C>A (p.Phe3226Leu)
c.9603C>A (p.Phe3201Leu)
c.9303C>A (p.Phe3101Leu)
c.6567C>A (p.Phe2189Leu)
c.5460C>A (p.Phe1820Leu)
c.9486C>A (p.Phe3162Leu)
c.5238C>A (p.Phe1746Leu)
c.8466C>A (p.Phe2822Leu)
8g.99832644C>GCA4824734VPS13Bc.9681C>G (p.Phe3227Leu)
n.9751C>G
c.*5363C>G (n.*5363C>G)
c.9606C>G (p.Phe3202Leu)
c.9678C>G (p.Phe3226Leu)
c.9603C>G (p.Phe3201Leu)
c.9303C>G (p.Phe3101Leu)
c.6567C>G (p.Phe2189Leu)
c.5460C>G (p.Phe1820Leu)
c.9486C>G (p.Phe3162Leu)
c.5238C>G (p.Phe1746Leu)
c.8466C>G (p.Phe2822Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832644C>TCA462458041VPS13Bc.9681C>T (p.Phe3227=)
n.9751C>T
c.*5363C>T (n.*5363C>T)
c.9606C>T (p.Phe3202=)
c.9678C>T (p.Phe3226=)
c.9603C>T (p.Phe3201=)
c.9303C>T (p.Phe3101=)
c.6567C>T (p.Phe2189=)
c.5460C>T (p.Phe1820=)
c.9486C>T (p.Phe3162=)
c.5238C>T (p.Phe1746=)
c.8466C>T (p.Phe2822=)
 COSMIC COSMIC
8g.99832645T>ACA371782002VPS13Bc.9682T>A (p.Cys3228Ser)
n.9752T>A
c.*5364T>A (n.*5364T>A)
c.9607T>A (p.Cys3203Ser)
c.9679T>A (p.Cys3227Ser)
c.9604T>A (p.Cys3202Ser)
c.9304T>A (p.Cys3102Ser)
c.6568T>A (p.Cys2190Ser)
c.5461T>A (p.Cys1821Ser)
c.9487T>A (p.Cys3163Ser)
c.5239T>A (p.Cys1747Ser)
c.8467T>A (p.Cys2823Ser)
8g.99832645T>CCA4824735VPS13Bc.9682T>C (p.Cys3228Arg)
n.9752T>C
c.*5364T>C (n.*5364T>C)
c.9607T>C (p.Cys3203Arg)
c.9679T>C (p.Cys3227Arg)
c.9604T>C (p.Cys3202Arg)
c.9304T>C (p.Cys3102Arg)
c.6568T>C (p.Cys2190Arg)
c.5461T>C (p.Cys1821Arg)
c.9487T>C (p.Cys3163Arg)
c.5239T>C (p.Cys1747Arg)
c.8467T>C (p.Cys2823Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99832645T>GCA371782001VPS13Bc.9682T>G (p.Cys3228Gly)
n.9752T>G
c.*5364T>G (n.*5364T>G)
c.9607T>G (p.Cys3203Gly)
c.9679T>G (p.Cys3227Gly)
c.9604T>G (p.Cys3202Gly)
c.9304T>G (p.Cys3102Gly)
c.6568T>G (p.Cys2190Gly)
c.5461T>G (p.Cys1821Gly)
c.9487T>G (p.Cys3163Gly)
c.5239T>G (p.Cys1747Gly)
c.8467T>G (p.Cys2823Gly)
8g.99832646_99832647delCA2781480031VPS13Bc.9683_9684del (p.Cys3228TyrfsTer24)
n.9753_9754del
c.*5365_*5366del (n.*5365_*5366del)
c.9608_9609del (p.Cys3203TyrfsTer24)
c.9680_9681del (p.Cys3227TyrfsTer24)
c.9605_9606del (p.Cys3202TyrfsTer24)
c.9305_9306del (p.Cys3102TyrfsTer24)
c.6569_6570del (p.Cys2190TyrfsTer24)
c.5462_5463del (p.Cys1821TyrfsTer24)
c.9488_9489del (p.Cys3163TyrfsTer24)
c.5240_5241del (p.Cys1747TyrfsTer24)
c.8468_8469del (p.Cys2823TyrfsTer24)
8g.99832646G>ACA4824737VPS13Bc.9683G>A (p.Cys3228Tyr)
n.9753G>A
c.*5365G>A (n.*5365G>A)
c.9608G>A (p.Cys3203Tyr)
c.9680G>A (p.Cys3227Tyr)
c.9605G>A (p.Cys3202Tyr)
c.9305G>A (p.Cys3102Tyr)
c.6569G>A (p.Cys2190Tyr)
c.5462G>A (p.Cys1821Tyr)
c.9488G>A (p.Cys3163Tyr)
c.5240G>A (p.Cys1747Tyr)
c.8468G>A (p.Cys2823Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832646G>CCA4824736VPS13Bc.9683G>C (p.Cys3228Ser)
n.9753G>C
c.*5365G>C (n.*5365G>C)
c.9608G>C (p.Cys3203Ser)
c.9680G>C (p.Cys3227Ser)
c.9605G>C (p.Cys3202Ser)
c.9305G>C (p.Cys3102Ser)
c.6569G>C (p.Cys2190Ser)
c.5462G>C (p.Cys1821Ser)
c.9488G>C (p.Cys3163Ser)
c.5240G>C (p.Cys1747Ser)
c.8468G>C (p.Cys2823Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832646G>TCA371782003VPS13Bc.9683G>T (p.Cys3228Phe)
n.9753G>T
c.*5365G>T (n.*5365G>T)
c.9608G>T (p.Cys3203Phe)
c.9680G>T (p.Cys3227Phe)
c.9605G>T (p.Cys3202Phe)
c.9305G>T (p.Cys3102Phe)
c.6569G>T (p.Cys2190Phe)
c.5462G>T (p.Cys1821Phe)
c.9488G>T (p.Cys3163Phe)
c.5240G>T (p.Cys1747Phe)
c.8468G>T (p.Cys2823Phe)
8g.99832647T>ACA371782004VPS13Bc.9684T>A (p.Cys3228Ter)
n.9754T>A
c.*5366T>A (n.*5366T>A)
c.9609T>A (p.Cys3203Ter)
c.9681T>A (p.Cys3227Ter)
c.9606T>A (p.Cys3202Ter)
c.9306T>A (p.Cys3102Ter)
c.6570T>A (p.Cys2190Ter)
c.5463T>A (p.Cys1821Ter)
c.9489T>A (p.Cys3163Ter)
c.5241T>A (p.Cys1747Ter)
c.8469T>A (p.Cys2823Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.99832647T>CCA4824738VPS13Bc.9684T>C (p.Cys3228=)
n.9754T>C
c.*5366T>C (n.*5366T>C)
c.9609T>C (p.Cys3203=)
c.9681T>C (p.Cys3227=)
c.9606T>C (p.Cys3202=)
c.9306T>C (p.Cys3102=)
c.6570T>C (p.Cys2190=)
c.5463T>C (p.Cys1821=)
c.9489T>C (p.Cys3163=)
c.5241T>C (p.Cys1747=)
c.8469T>C (p.Cys2823=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832647T>GCA371782005VPS13Bc.9684T>G (p.Cys3228Trp)
n.9754T>G
c.*5366T>G (n.*5366T>G)
c.9609T>G (p.Cys3203Trp)
c.9681T>G (p.Cys3227Trp)
c.9606T>G (p.Cys3202Trp)
c.9306T>G (p.Cys3102Trp)
c.6570T>G (p.Cys2190Trp)
c.5463T>G (p.Cys1821Trp)
c.9489T>G (p.Cys3163Trp)
c.5241T>G (p.Cys1747Trp)
c.8469T>G (p.Cys2823Trp)
8g.99832648A>CCA371782006VPS13Bc.9685A>C (p.Thr3229Pro)
n.9755A>C
c.*5367A>C (n.*5367A>C)
c.9610A>C (p.Thr3204Pro)
c.9682A>C (p.Thr3228Pro)
c.9607A>C (p.Thr3203Pro)
c.9307A>C (p.Thr3103Pro)
c.6571A>C (p.Thr2191Pro)
c.5464A>C (p.Thr1822Pro)
c.9490A>C (p.Thr3164Pro)
c.5242A>C (p.Thr1748Pro)
c.8470A>C (p.Thr2824Pro)
8g.99832648A>GCA371782007VPS13Bc.9685A>G (p.Thr3229Ala)
n.9755A>G
c.*5367A>G (n.*5367A>G)
c.9610A>G (p.Thr3204Ala)
c.9682A>G (p.Thr3228Ala)
c.9607A>G (p.Thr3203Ala)
c.9307A>G (p.Thr3103Ala)
c.6571A>G (p.Thr2191Ala)
c.5464A>G (p.Thr1822Ala)
c.9490A>G (p.Thr3164Ala)
c.5242A>G (p.Thr1748Ala)
c.8470A>G (p.Thr2824Ala)
8g.99832648A>TCA371782008VPS13Bc.9685A>T (p.Thr3229Ser)
n.9755A>T
c.*5367A>T (n.*5367A>T)
c.9610A>T (p.Thr3204Ser)
c.9682A>T (p.Thr3228Ser)
c.9607A>T (p.Thr3203Ser)
c.9307A>T (p.Thr3103Ser)
c.6571A>T (p.Thr2191Ser)
c.5464A>T (p.Thr1822Ser)
c.9490A>T (p.Thr3164Ser)
c.5242A>T (p.Thr1748Ser)
c.8470A>T (p.Thr2824Ser)
8g.99832649C>ACA371782009VPS13Bc.9686C>A (p.Thr3229Asn)
n.9756C>A
c.*5368C>A (n.*5368C>A)
c.9611C>A (p.Thr3204Asn)
c.9683C>A (p.Thr3228Asn)
c.9608C>A (p.Thr3203Asn)
c.9308C>A (p.Thr3103Asn)
c.6572C>A (p.Thr2191Asn)
c.5465C>A (p.Thr1822Asn)
c.9491C>A (p.Thr3164Asn)
c.5243C>A (p.Thr1748Asn)
c.8471C>A (p.Thr2824Asn)
8g.99832649C>GCA371782010VPS13Bc.9686C>G (p.Thr3229Ser)
n.9756C>G
c.*5368C>G (n.*5368C>G)
c.9611C>G (p.Thr3204Ser)
c.9683C>G (p.Thr3228Ser)
c.9608C>G (p.Thr3203Ser)
c.9308C>G (p.Thr3103Ser)
c.6572C>G (p.Thr2191Ser)
c.5465C>G (p.Thr1822Ser)
c.9491C>G (p.Thr3164Ser)
c.5243C>G (p.Thr1748Ser)
c.8471C>G (p.Thr2824Ser)
 gnomAD v4
8g.99832649C>TCA371782011VPS13Bc.9686C>T (p.Thr3229Ile)
n.9756C>T
c.*5368C>T (n.*5368C>T)
c.9611C>T (p.Thr3204Ile)
c.9683C>T (p.Thr3228Ile)
c.9608C>T (p.Thr3203Ile)
c.9308C>T (p.Thr3103Ile)
c.6572C>T (p.Thr2191Ile)
c.5465C>T (p.Thr1822Ile)
c.9491C>T (p.Thr3164Ile)
c.5243C>T (p.Thr1748Ile)
c.8471C>T (p.Thr2824Ile)
8g.99832649_99832650insTCCA2781480036VPS13Bc.9686_9687insTC (p.Arg3230ProfsTer4)
n.9756_9757insTC
c.*5368_*5369insTC (n.*5368_*5369insTC)
c.9611_9612insTC (p.Arg3205ProfsTer4)
c.9683_9684insTC (p.Arg3229ProfsTer4)
c.9608_9609insTC (p.Arg3204ProfsTer4)
c.9308_9309insTC (p.Arg3104ProfsTer4)
c.6572_6573insTC (p.Arg2192ProfsTer4)
c.5465_5466insTC (p.Arg1823ProfsTer4)
c.9491_9492insTC (p.Arg3165ProfsTer4)
c.5243_5244insTC (p.Arg1749ProfsTer4)
c.8471_8472insTC (p.Arg2825ProfsTer4)
8g.99832649_99832650insAGATCA2781480040VPS13Bc.9686_9687insAGAT (p.Arg3230AspfsTer24)
n.9756_9757insAGAT
c.*5368_*5369insAGAT (n.*5368_*5369insAGAT)
c.9611_9612insAGAT (p.Arg3205AspfsTer24)
c.9683_9684insAGAT (p.Arg3229AspfsTer24)
c.9608_9609insAGAT (p.Arg3204AspfsTer24)
c.9308_9309insAGAT (p.Arg3104AspfsTer24)
c.6572_6573insAGAT (p.Arg2192AspfsTer24)
c.5465_5466insAGAT (p.Arg1823AspfsTer24)
c.9491_9492insAGAT (p.Arg3165AspfsTer24)
c.5243_5244insAGAT (p.Arg1749AspfsTer24)
c.8471_8472insAGAT (p.Arg2825AspfsTer24)
8g.99832650C>ACA462458042VPS13Bc.9687C>A (p.Thr3229=)
n.9757C>A
c.*5369C>A (n.*5369C>A)
c.9612C>A (p.Thr3204=)
c.9684C>A (p.Thr3228=)
c.9609C>A (p.Thr3203=)
c.9309C>A (p.Thr3103=)
c.6573C>A (p.Thr2191=)
c.5466C>A (p.Thr1822=)
c.9492C>A (p.Thr3164=)
c.5244C>A (p.Thr1748=)
c.8472C>A (p.Thr2824=)
8g.99832650C>GCA462458043VPS13Bc.9687C>G (p.Thr3229=)
n.9757C>G
c.*5369C>G (n.*5369C>G)
c.9612C>G (p.Thr3204=)
c.9684C>G (p.Thr3228=)
c.9609C>G (p.Thr3203=)
c.9309C>G (p.Thr3103=)
c.6573C>G (p.Thr2191=)
c.5466C>G (p.Thr1822=)
c.9492C>G (p.Thr3164=)
c.5244C>G (p.Thr1748=)
c.8472C>G (p.Thr2824=)
 ClinVar dbSNP gnomAD v4
8g.99832650C>TCA462458044VPS13Bc.9687C>T (p.Thr3229=)
n.9757C>T
c.*5369C>T (n.*5369C>T)
c.9612C>T (p.Thr3204=)
c.9684C>T (p.Thr3228=)
c.9609C>T (p.Thr3203=)
c.9309C>T (p.Thr3103=)
c.6573C>T (p.Thr2191=)
c.5466C>T (p.Thr1822=)
c.9492C>T (p.Thr3164=)
c.5244C>T (p.Thr1748=)
c.8472C>T (p.Thr2824=)
 gnomAD v4
8g.99832651A>CCA462458045VPS13Bc.9688A>C (p.Arg3230=)
n.9758A>C
c.*5370A>C (n.*5370A>C)
c.9613A>C (p.Arg3205=)
c.9685A>C (p.Arg3229=)
c.9610A>C (p.Arg3204=)
c.9310A>C (p.Arg3104=)
c.6574A>C (p.Arg2192=)
c.5467A>C (p.Arg1823=)
c.9493A>C (p.Arg3165=)
c.5245A>C (p.Arg1749=)
c.8473A>C (p.Arg2825=)
8g.99832651A>GCA371782013VPS13Bc.9688A>G (p.Arg3230Gly)
n.9758A>G
c.*5370A>G (n.*5370A>G)
c.9613A>G (p.Arg3205Gly)
c.9685A>G (p.Arg3229Gly)
c.9610A>G (p.Arg3204Gly)
c.9310A>G (p.Arg3104Gly)
c.6574A>G (p.Arg2192Gly)
c.5467A>G (p.Arg1823Gly)
c.9493A>G (p.Arg3165Gly)
c.5245A>G (p.Arg1749Gly)
c.8473A>G (p.Arg2825Gly)
 COSMIC
8g.99832651A>TCA371782012VPS13Bc.9688A>T (p.Arg3230Trp)
n.9758A>T
c.*5370A>T (n.*5370A>T)
c.9613A>T (p.Arg3205Trp)
c.9685A>T (p.Arg3229Trp)
c.9610A>T (p.Arg3204Trp)
c.9310A>T (p.Arg3104Trp)
c.6574A>T (p.Arg2192Trp)
c.5467A>T (p.Arg1823Trp)
c.9493A>T (p.Arg3165Trp)
c.5245A>T (p.Arg1749Trp)
c.8473A>T (p.Arg2825Trp)
8g.99832652G>ACA371782014VPS13Bc.9689G>A (p.Arg3230Lys)
n.9759G>A
c.*5371G>A (n.*5371G>A)
c.9614G>A (p.Arg3205Lys)
c.9686G>A (p.Arg3229Lys)
c.9611G>A (p.Arg3204Lys)
c.9311G>A (p.Arg3104Lys)
c.6575G>A (p.Arg2192Lys)
c.5468G>A (p.Arg1823Lys)
c.9494G>A (p.Arg3165Lys)
c.5246G>A (p.Arg1749Lys)
c.8474G>A (p.Arg2825Lys)
8g.99832652G>CCA371782016VPS13Bc.9689G>C (p.Arg3230Thr)
n.9759G>C
c.*5371G>C (n.*5371G>C)
c.9614G>C (p.Arg3205Thr)
c.9686G>C (p.Arg3229Thr)
c.9611G>C (p.Arg3204Thr)
c.9311G>C (p.Arg3104Thr)
c.6575G>C (p.Arg2192Thr)
c.5468G>C (p.Arg1823Thr)
c.9494G>C (p.Arg3165Thr)
c.5246G>C (p.Arg1749Thr)
c.8474G>C (p.Arg2825Thr)
8g.99832652G>TCA371782015VPS13Bc.9689G>T (p.Arg3230Met)
n.9759G>T
c.*5371G>T (n.*5371G>T)
c.9614G>T (p.Arg3205Met)
c.9686G>T (p.Arg3229Met)
c.9611G>T (p.Arg3204Met)
c.9311G>T (p.Arg3104Met)
c.6575G>T (p.Arg2192Met)
c.5468G>T (p.Arg1823Met)
c.9494G>T (p.Arg3165Met)
c.5246G>T (p.Arg1749Met)
c.8474G>T (p.Arg2825Met)
 COSMIC COSMIC
8g.99832653delCA2781480042VPS13Bc.9689+1del
n.9759+1del
c.*5371+1del
c.9614+1del
c.9686+1del
c.9611+1del
c.9311+1del
c.6575+1del
c.5468+1del
c.9494+1del
c.5246+1del
c.8474+1del
8g.99832653G>ACA371782017VPS13Bc.9689+1G>A (n.9689+1G>A)
n.9759+1G>A
c.*5371+1G>A (n.*5371+1G>A)
c.9614+1G>A (n.9614+1G>A)
c.9686+1G>A (n.9686+1G>A)
c.9611+1G>A (n.9611+1G>A)
c.9311+1G>A (n.9311+1G>A)
c.6575+1G>A (n.6575+1G>A)
c.5468+1G>A (n.5468+1G>A)
c.9494+1G>A (n.9494+1G>A)
c.5246+1G>A (n.5246+1G>A)
c.8474+1G>A (n.8474+1G>A)
8g.99832653G>CCA371782018VPS13Bc.9689+1G>C (n.9689+1G>C)
n.9759+1G>C
c.*5371+1G>C (n.*5371+1G>C)
c.9614+1G>C (n.9614+1G>C)
c.9686+1G>C (n.9686+1G>C)
c.9611+1G>C (n.9611+1G>C)
c.9311+1G>C (n.9311+1G>C)
c.6575+1G>C (n.6575+1G>C)
c.5468+1G>C (n.5468+1G>C)
c.9494+1G>C (n.9494+1G>C)
c.5246+1G>C (n.5246+1G>C)
c.8474+1G>C (n.8474+1G>C)
8g.99832653G>TCA16041262VPS13Bc.9689+1G>T (n.9689+1G>T)
n.9759+1G>T
c.*5371+1G>T (n.*5371+1G>T)
c.9614+1G>T (n.9614+1G>T)
c.9686+1G>T (n.9686+1G>T)
c.9611+1G>T (n.9611+1G>T)
c.9311+1G>T (n.9311+1G>T)
c.6575+1G>T (n.6575+1G>T)
c.5468+1G>T (n.5468+1G>T)
c.9494+1G>T (n.9494+1G>T)
c.5246+1G>T (n.5246+1G>T)
c.8474+1G>T (n.8474+1G>T)
 ClinVar dbSNP
8g.99832654T>ACA371782019VPS13Bc.9689+2T>A (n.9689+2T>A)
n.9759+2T>A
c.*5371+2T>A (n.*5371+2T>A)
c.9614+2T>A (n.9614+2T>A)
c.9686+2T>A (n.9686+2T>A)
c.9611+2T>A (n.9611+2T>A)
c.9311+2T>A (n.9311+2T>A)
c.6575+2T>A (n.6575+2T>A)
c.5468+2T>A (n.5468+2T>A)
c.9494+2T>A (n.9494+2T>A)
c.5246+2T>A (n.5246+2T>A)
c.8474+2T>A (n.8474+2T>A)
8g.99832654T>CCA371782021VPS13Bc.9689+2T>C (n.9689+2T>C)
n.9759+2T>C
c.*5371+2T>C (n.*5371+2T>C)
c.9614+2T>C (n.9614+2T>C)
c.9686+2T>C (n.9686+2T>C)
c.9611+2T>C (n.9611+2T>C)
c.9311+2T>C (n.9311+2T>C)
c.6575+2T>C (n.6575+2T>C)
c.5468+2T>C (n.5468+2T>C)
c.9494+2T>C (n.9494+2T>C)
c.5246+2T>C (n.5246+2T>C)
c.8474+2T>C (n.8474+2T>C)
8g.99832654T>GCA371782020VPS13Bc.9689+2T>G (n.9689+2T>G)
n.9759+2T>G
c.*5371+2T>G (n.*5371+2T>G)
c.9614+2T>G (n.9614+2T>G)
c.9686+2T>G (n.9686+2T>G)
c.9611+2T>G (n.9611+2T>G)
c.9311+2T>G (n.9311+2T>G)
c.6575+2T>G (n.6575+2T>G)
c.5468+2T>G (n.5468+2T>G)
c.9494+2T>G (n.9494+2T>G)
c.5246+2T>G (n.5246+2T>G)
c.8474+2T>G (n.8474+2T>G)
8g.99832656T>ACA2688070453VPS13Bc.9689+4T>A (n.9689+4T>A)
n.9759+4T>A
c.*5371+4T>A (n.*5371+4T>A)
c.9614+4T>A (n.9614+4T>A)
c.9686+4T>A (n.9686+4T>A)
c.9611+4T>A (n.9611+4T>A)
c.9311+4T>A (n.9311+4T>A)
c.6575+4T>A (n.6575+4T>A)
c.5468+4T>A (n.5468+4T>A)
c.9494+4T>A (n.9494+4T>A)
c.5246+4T>A (n.5246+4T>A)
c.8474+4T>A (n.8474+4T>A)
 gnomAD v4
8g.99832656T>CCA2688070454VPS13Bc.9689+4T>C (n.9689+4T>C)
n.9759+4T>C
c.*5371+4T>C (n.*5371+4T>C)
c.9614+4T>C (n.9614+4T>C)
c.9686+4T>C (n.9686+4T>C)
c.9611+4T>C (n.9611+4T>C)
c.9311+4T>C (n.9311+4T>C)
c.6575+4T>C (n.6575+4T>C)
c.5468+4T>C (n.5468+4T>C)
c.9494+4T>C (n.9494+4T>C)
c.5246+4T>C (n.5246+4T>C)
c.8474+4T>C (n.8474+4T>C)
 gnomAD v4
8g.99832656_99832657insACCA2781480043VPS13Bc.9689+4_9689+5insAC (n.9689+4_9689+5insAC)
n.9759+4_9759+5insAC
c.*5371+4_*5371+5insAC (n.*5371+4_*5371+5insAC)
c.9614+4_9614+5insAC (n.9614+4_9614+5insAC)
c.9686+4_9686+5insAC (n.9686+4_9686+5insAC)
c.9611+4_9611+5insAC (n.9611+4_9611+5insAC)
c.9311+4_9311+5insAC (n.9311+4_9311+5insAC)
c.6575+4_6575+5insAC (n.6575+4_6575+5insAC)
c.5468+4_5468+5insAC (n.5468+4_5468+5insAC)
c.9494+4_9494+5insAC (n.9494+4_9494+5insAC)
c.5246+4_5246+5insAC (n.5246+4_5246+5insAC)
c.8474+4_8474+5insAC (n.8474+4_8474+5insAC)
8g.99832658T>CCA4824739VPS13Bc.9689+6T>C (n.9689+6T>C)
n.9759+6T>C
c.*5371+6T>C (n.*5371+6T>C)
c.9614+6T>C (n.9614+6T>C)
c.9686+6T>C (n.9686+6T>C)
c.9611+6T>C (n.9611+6T>C)
c.9311+6T>C (n.9311+6T>C)
c.6575+6T>C (n.6575+6T>C)
c.5468+6T>C (n.5468+6T>C)
c.9494+6T>C (n.9494+6T>C)
c.5246+6T>C (n.5246+6T>C)
c.8474+6T>C (n.8474+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832658T>GCA857609745VPS13Bc.9689+6T>G (n.9689+6T>G)
n.9759+6T>G
c.*5371+6T>G (n.*5371+6T>G)
c.9614+6T>G (n.9614+6T>G)
c.9686+6T>G (n.9686+6T>G)
c.9611+6T>G (n.9611+6T>G)
c.9311+6T>G (n.9311+6T>G)
c.6575+6T>G (n.6575+6T>G)
c.5468+6T>G (n.5468+6T>G)
c.9494+6T>G (n.9494+6T>G)
c.5246+6T>G (n.5246+6T>G)
c.8474+6T>G (n.8474+6T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.99832660_99832661delCA2579210777VPS13Bc.9689+8_9689+9del (n.9689+8_9689+9del)
n.9759+8_9759+9del
c.*5371+8_*5371+9del (n.*5371+8_*5371+9del)
c.9614+8_9614+9del (n.9614+8_9614+9del)
c.9686+8_9686+9del (n.9686+8_9686+9del)
c.9611+8_9611+9del (n.9611+8_9611+9del)
c.9311+8_9311+9del (n.9311+8_9311+9del)
c.6575+8_6575+9del (n.6575+8_6575+9del)
c.5468+8_5468+9del (n.5468+8_5468+9del)
c.9494+8_9494+9del (n.9494+8_9494+9del)
c.5246+8_5246+9del (n.5246+8_5246+9del)
c.8474+8_8474+9del (n.8474+8_8474+9del)
 ClinVar gnomAD v4
8g.99832660A>TCA645372860VPS13Bc.9689+8A>T (n.9689+8A>T)
n.9759+8A>T
c.*5371+8A>T (n.*5371+8A>T)
c.9614+8A>T (n.9614+8A>T)
c.9686+8A>T (n.9686+8A>T)
c.9611+8A>T (n.9611+8A>T)
c.9311+8A>T (n.9311+8A>T)
c.6575+8A>T (n.6575+8A>T)
c.5468+8A>T (n.5468+8A>T)
c.9494+8A>T (n.9494+8A>T)
c.5246+8A>T (n.5246+8A>T)
c.8474+8A>T (n.8474+8A>T)
 ClinVar dbSNP
8g.99832660_99832662delCA2579210778VPS13Bc.9689+8_9689+10del (n.9689+8_9689+10del)
n.9759+8_9759+10del
c.*5371+8_*5371+10del (n.*5371+8_*5371+10del)
c.9614+8_9614+10del (n.9614+8_9614+10del)
c.9686+8_9686+10del (n.9686+8_9686+10del)
c.9611+8_9611+10del (n.9611+8_9611+10del)
c.9311+8_9311+10del (n.9311+8_9311+10del)
c.6575+8_6575+10del (n.6575+8_6575+10del)
c.5468+8_5468+10del (n.5468+8_5468+10del)
c.9494+8_9494+10del (n.9494+8_9494+10del)
c.5246+8_5246+10del (n.5246+8_5246+10del)
c.8474+8_8474+10del (n.8474+8_8474+10del)
 ClinVar gnomAD v4
8g.99832662_99832665delCA2781480044VPS13Bc.9689+10_9689+13del (n.9689+10_9689+13del)
n.9759+10_9759+13del
c.*5371+10_*5371+13del (n.*5371+10_*5371+13del)
c.9614+10_9614+13del (n.9614+10_9614+13del)
c.9686+10_9686+13del (n.9686+10_9686+13del)
c.9611+10_9611+13del (n.9611+10_9611+13del)
c.9311+10_9311+13del (n.9311+10_9311+13del)
c.6575+10_6575+13del (n.6575+10_6575+13del)
c.5468+10_5468+13del (n.5468+10_5468+13del)
c.9494+10_9494+13del (n.9494+10_9494+13del)
c.5246+10_5246+13del (n.5246+10_5246+13del)
c.8474+10_8474+13del (n.8474+10_8474+13del)
8g.99832663T>GCA4824740VPS13Bc.9689+11T>G (n.9689+11T>G)
n.9759+11T>G
c.*5371+11T>G (n.*5371+11T>G)
c.9614+11T>G (n.9614+11T>G)
c.9686+11T>G (n.9686+11T>G)
c.9611+11T>G (n.9611+11T>G)
c.9311+11T>G (n.9311+11T>G)
c.6575+11T>G (n.6575+11T>G)
c.5468+11T>G (n.5468+11T>G)
c.9494+11T>G (n.9494+11T>G)
c.5246+11T>G (n.5246+11T>G)
c.8474+11T>G (n.8474+11T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832664T>ACA583884142VPS13Bc.9689+12T>A (n.9689+12T>A)
n.9759+12T>A
c.*5371+12T>A (n.*5371+12T>A)
c.9614+12T>A (n.9614+12T>A)
c.9686+12T>A (n.9686+12T>A)
c.9611+12T>A (n.9611+12T>A)
c.9311+12T>A (n.9311+12T>A)
c.6575+12T>A (n.6575+12T>A)
c.5468+12T>A (n.5468+12T>A)
c.9494+12T>A (n.9494+12T>A)
c.5246+12T>A (n.5246+12T>A)
c.8474+12T>A (n.8474+12T>A)
 dbSNP gnomAD v2 gnomAD v4
8g.99832665T>CCA2781480045VPS13Bc.9689+13T>C (n.9689+13T>C)
n.9759+13T>C
c.*5371+13T>C (n.*5371+13T>C)
c.9614+13T>C (n.9614+13T>C)
c.9686+13T>C (n.9686+13T>C)
c.9611+13T>C (n.9611+13T>C)
c.9311+13T>C (n.9311+13T>C)
c.6575+13T>C (n.6575+13T>C)
c.5468+13T>C (n.5468+13T>C)
c.9494+13T>C (n.9494+13T>C)
c.5246+13T>C (n.5246+13T>C)
c.8474+13T>C (n.8474+13T>C)
8g.99832665T>GCA4824741VPS13Bc.9689+13T>G (n.9689+13T>G)
n.9759+13T>G
c.*5371+13T>G (n.*5371+13T>G)
c.9614+13T>G (n.9614+13T>G)
c.9686+13T>G (n.9686+13T>G)
c.9611+13T>G (n.9611+13T>G)
c.9311+13T>G (n.9311+13T>G)
c.6575+13T>G (n.6575+13T>G)
c.5468+13T>G (n.5468+13T>G)
c.9494+13T>G (n.9494+13T>G)
c.5246+13T>G (n.5246+13T>G)
c.8474+13T>G (n.8474+13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832666A>GCA4824742VPS13Bc.9689+14A>G (n.9689+14A>G)
n.9759+14A>G
c.*5371+14A>G (n.*5371+14A>G)
c.9614+14A>G (n.9614+14A>G)
c.9686+14A>G (n.9686+14A>G)
c.9611+14A>G (n.9611+14A>G)
c.9311+14A>G (n.9311+14A>G)
c.6575+14A>G (n.6575+14A>G)
c.5468+14A>G (n.5468+14A>G)
c.9494+14A>G (n.9494+14A>G)
c.5246+14A>G (n.5246+14A>G)
c.8474+14A>G (n.8474+14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832668A>GCA4824743VPS13Bc.9689+16A>G (n.9689+16A>G)
n.9759+16A>G
c.*5371+16A>G (n.*5371+16A>G)
c.9614+16A>G (n.9614+16A>G)
c.9686+16A>G (n.9686+16A>G)
c.9611+16A>G (n.9611+16A>G)
c.9311+16A>G (n.9311+16A>G)
c.6575+16A>G (n.6575+16A>G)
c.5468+16A>G (n.5468+16A>G)
c.9494+16A>G (n.9494+16A>G)
c.5246+16A>G (n.5246+16A>G)
c.8474+16A>G (n.8474+16A>G)
 dbSNP ExAC
8g.99832672A>TCA2688070458VPS13Bc.9689+20A>T (n.9689+20A>T)
n.9759+20A>T
c.*5371+20A>T (n.*5371+20A>T)
c.9614+20A>T (n.9614+20A>T)
c.9686+20A>T (n.9686+20A>T)
c.9611+20A>T (n.9611+20A>T)
c.9311+20A>T (n.9311+20A>T)
c.6575+20A>T (n.6575+20A>T)
c.5468+20A>T (n.5468+20A>T)
c.9494+20A>T (n.9494+20A>T)
c.5246+20A>T (n.5246+20A>T)
c.8474+20A>T (n.8474+20A>T)
 gnomAD v4
8g.99832673delCA857609758VPS13Bc.9689+21del (n.9689+21del)
n.9759+21del
c.*5371+21del (n.*5371+21del)
c.9614+21del (n.9614+21del)
c.9686+21del (n.9686+21del)
c.9611+21del (n.9611+21del)
c.9311+21del (n.9311+21del)
c.6575+21del (n.6575+21del)
c.5468+21del (n.5468+21del)
c.9494+21del (n.9494+21del)
c.5246+21del (n.5246+21del)
c.8474+21del (n.8474+21del)
 dbSNP
8g.99832673T>CCA2688070459VPS13Bc.9689+21T>C (n.9689+21T>C)
n.9759+21T>C
c.*5371+21T>C (n.*5371+21T>C)
c.9614+21T>C (n.9614+21T>C)
c.9686+21T>C (n.9686+21T>C)
c.9611+21T>C (n.9611+21T>C)
c.9311+21T>C (n.9311+21T>C)
c.6575+21T>C (n.6575+21T>C)
c.5468+21T>C (n.5468+21T>C)
c.9494+21T>C (n.9494+21T>C)
c.5246+21T>C (n.5246+21T>C)
c.8474+21T>C (n.8474+21T>C)
 gnomAD v4
8g.99832675T>CCA583884143VPS13Bc.9689+23T>C (n.9689+23T>C)
n.9759+23T>C
c.*5371+23T>C (n.*5371+23T>C)
c.9614+23T>C (n.9614+23T>C)
c.9686+23T>C (n.9686+23T>C)
c.9611+23T>C (n.9611+23T>C)
c.9311+23T>C (n.9311+23T>C)
c.6575+23T>C (n.6575+23T>C)
c.5468+23T>C (n.5468+23T>C)
c.9494+23T>C (n.9494+23T>C)
c.5246+23T>C (n.5246+23T>C)
c.8474+23T>C (n.8474+23T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.99832675_99832676insACA2781480047VPS13Bc.9689+23_9689+24insA (n.9689+23_9689+24insA)
n.9759+23_9759+24insA
c.*5371+23_*5371+24insA (n.*5371+23_*5371+24insA)
c.9614+23_9614+24insA (n.9614+23_9614+24insA)
c.9686+23_9686+24insA (n.9686+23_9686+24insA)
c.9611+23_9611+24insA (n.9611+23_9611+24insA)
c.9311+23_9311+24insA (n.9311+23_9311+24insA)
c.6575+23_6575+24insA (n.6575+23_6575+24insA)
c.5468+23_5468+24insA (n.5468+23_5468+24insA)
c.9494+23_9494+24insA (n.9494+23_9494+24insA)
c.5246+23_5246+24insA (n.5246+23_5246+24insA)
c.8474+23_8474+24insA (n.8474+23_8474+24insA)
8g.99832676C>GCA857609763VPS13Bc.9689+24C>G (n.9689+24C>G)
n.9759+24C>G
c.*5371+24C>G (n.*5371+24C>G)
c.9614+24C>G (n.9614+24C>G)
c.9686+24C>G (n.9686+24C>G)
c.9611+24C>G (n.9611+24C>G)
c.9311+24C>G (n.9311+24C>G)
c.6575+24C>G (n.6575+24C>G)
c.5468+24C>G (n.5468+24C>G)
c.9494+24C>G (n.9494+24C>G)
c.5246+24C>G (n.5246+24C>G)
c.8474+24C>G (n.8474+24C>G)
 dbSNP gnomAD v3 gnomAD v4
8g.99832677T>ACA2781480048VPS13Bc.9689+25T>A (n.9689+25T>A)
n.9759+25T>A
c.*5371+25T>A (n.*5371+25T>A)
c.9614+25T>A (n.9614+25T>A)
c.9686+25T>A (n.9686+25T>A)
c.9611+25T>A (n.9611+25T>A)
c.9311+25T>A (n.9311+25T>A)
c.6575+25T>A (n.6575+25T>A)
c.5468+25T>A (n.5468+25T>A)
c.9494+25T>A (n.9494+25T>A)
c.5246+25T>A (n.5246+25T>A)
c.8474+25T>A (n.8474+25T>A)
8g.99832677T>CCA2688070460VPS13Bc.9689+25T>C (n.9689+25T>C)
n.9759+25T>C
c.*5371+25T>C (n.*5371+25T>C)
c.9614+25T>C (n.9614+25T>C)
c.9686+25T>C (n.9686+25T>C)
c.9611+25T>C (n.9611+25T>C)
c.9311+25T>C (n.9311+25T>C)
c.6575+25T>C (n.6575+25T>C)
c.5468+25T>C (n.5468+25T>C)
c.9494+25T>C (n.9494+25T>C)
c.5246+25T>C (n.5246+25T>C)
c.8474+25T>C (n.8474+25T>C)
 gnomAD v4
8g.99832678G>ACA2717754674VPS13Bc.9689+26G>A (n.9689+26G>A)
n.9759+26G>A
c.*5371+26G>A (n.*5371+26G>A)
c.9614+26G>A (n.9614+26G>A)
c.9686+26G>A (n.9686+26G>A)
c.9611+26G>A (n.9611+26G>A)
c.9311+26G>A (n.9311+26G>A)
c.6575+26G>A (n.6575+26G>A)
c.5468+26G>A (n.5468+26G>A)
c.9494+26G>A (n.9494+26G>A)
c.5246+26G>A (n.5246+26G>A)
c.8474+26G>A (n.8474+26G>A)
 dbSNP
8g.99832678G>TCA857609766VPS13Bc.9689+26G>T (n.9689+26G>T)
n.9759+26G>T
c.*5371+26G>T (n.*5371+26G>T)
c.9614+26G>T (n.9614+26G>T)
c.9686+26G>T (n.9686+26G>T)
c.9611+26G>T (n.9611+26G>T)
c.9311+26G>T (n.9311+26G>T)
c.6575+26G>T (n.6575+26G>T)
c.5468+26G>T (n.5468+26G>T)
c.9494+26G>T (n.9494+26G>T)
c.5246+26G>T (n.5246+26G>T)
c.8474+26G>T (n.8474+26G>T)
 dbSNP gnomAD v3 gnomAD v4
8g.99832679T>CCA182337417VPS13Bc.9689+27T>C (n.9689+27T>C)
n.9759+27T>C
c.*5371+27T>C (n.*5371+27T>C)
c.9614+27T>C (n.9614+27T>C)
c.9686+27T>C (n.9686+27T>C)
c.9611+27T>C (n.9611+27T>C)
c.9311+27T>C (n.9311+27T>C)
c.6575+27T>C (n.6575+27T>C)
c.5468+27T>C (n.5468+27T>C)
c.9494+27T>C (n.9494+27T>C)
c.5246+27T>C (n.5246+27T>C)
c.8474+27T>C (n.8474+27T>C)
 dbSNP
8g.99832684_99832686delCA2557781318VPS13Bc.9689+32_9689+34del (n.9689+32_9689+34del)
n.9759+32_9759+34del
c.*5371+32_*5371+34del (n.*5371+32_*5371+34del)
c.9614+32_9614+34del (n.9614+32_9614+34del)
c.9686+32_9686+34del (n.9686+32_9686+34del)
c.9611+32_9611+34del (n.9611+32_9611+34del)
c.9311+32_9311+34del (n.9311+32_9311+34del)
c.6575+32_6575+34del (n.6575+32_6575+34del)
c.5468+32_5468+34del (n.5468+32_5468+34del)
c.9494+32_9494+34del (n.9494+32_9494+34del)
c.5246+32_5246+34del (n.5246+32_5246+34del)
c.8474+32_8474+34del (n.8474+32_8474+34del)
8g.99832680T>ACA2781480049VPS13Bc.9689+28T>A (n.9689+28T>A)
n.9759+28T>A
c.*5371+28T>A (n.*5371+28T>A)
c.9614+28T>A (n.9614+28T>A)
c.9686+28T>A (n.9686+28T>A)
c.9611+28T>A (n.9611+28T>A)
c.9311+28T>A (n.9311+28T>A)
c.6575+28T>A (n.6575+28T>A)
c.5468+28T>A (n.5468+28T>A)
c.9494+28T>A (n.9494+28T>A)
c.5246+28T>A (n.5246+28T>A)
c.8474+28T>A (n.8474+28T>A)
8g.99832681_99832682delCA2781480050VPS13Bc.9689+29_9689+30del (n.9689+29_9689+30del)
n.9759+29_9759+30del
c.*5371+29_*5371+30del (n.*5371+29_*5371+30del)
c.9614+29_9614+30del (n.9614+29_9614+30del)
c.9686+29_9686+30del (n.9686+29_9686+30del)
c.9611+29_9611+30del (n.9611+29_9611+30del)
c.9311+29_9311+30del (n.9311+29_9311+30del)
c.6575+29_6575+30del (n.6575+29_6575+30del)
c.5468+29_5468+30del (n.5468+29_5468+30del)
c.9494+29_9494+30del (n.9494+29_9494+30del)
c.5246+29_5246+30del (n.5246+29_5246+30del)
c.8474+29_8474+30del (n.8474+29_8474+30del)
8g.99832681C>TCA4824744VPS13Bc.9689+29C>T (n.9689+29C>T)
n.9759+29C>T
c.*5371+29C>T (n.*5371+29C>T)
c.9614+29C>T (n.9614+29C>T)
c.9686+29C>T (n.9686+29C>T)
c.9611+29C>T (n.9611+29C>T)
c.9311+29C>T (n.9311+29C>T)
c.6575+29C>T (n.6575+29C>T)
c.5468+29C>T (n.5468+29C>T)
c.9494+29C>T (n.9494+29C>T)
c.5246+29C>T (n.5246+29C>T)
c.8474+29C>T (n.8474+29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99832681_99832682insACA2781480051VPS13Bc.9689+29_9689+30insA (n.9689+29_9689+30insA)
n.9759+29_9759+30insA
c.*5371+29_*5371+30insA (n.*5371+29_*5371+30insA)
c.9614+29_9614+30insA (n.9614+29_9614+30insA)
c.9686+29_9686+30insA (n.9686+29_9686+30insA)
c.9611+29_9611+30insA (n.9611+29_9611+30insA)
c.9311+29_9311+30insA (n.9311+29_9311+30insA)
c.6575+29_6575+30insA (n.6575+29_6575+30insA)
c.5468+29_5468+30insA (n.5468+29_5468+30insA)
c.9494+29_9494+30insA (n.9494+29_9494+30insA)
c.5246+29_5246+30insA (n.5246+29_5246+30insA)
c.8474+29_8474+30insA (n.8474+29_8474+30insA)
8g.99832681_99832682insACACA2781480052VPS13Bc.9689+29_9689+30insACA (n.9689+29_9689+30insACA)
n.9759+29_9759+30insACA
c.*5371+29_*5371+30insACA (n.*5371+29_*5371+30insACA)
c.9614+29_9614+30insACA (n.9614+29_9614+30insACA)
c.9686+29_9686+30insACA (n.9686+29_9686+30insACA)
c.9611+29_9611+30insACA (n.9611+29_9611+30insACA)
c.9311+29_9311+30insACA (n.9311+29_9311+30insACA)
c.6575+29_6575+30insACA (n.6575+29_6575+30insACA)
c.5468+29_5468+30insACA (n.5468+29_5468+30insACA)
c.9494+29_9494+30insACA (n.9494+29_9494+30insACA)
c.5246+29_5246+30insACA (n.5246+29_5246+30insACA)
c.8474+29_8474+30insACA (n.8474+29_8474+30insACA)
8g.99832682T>CCA2781480053VPS13Bc.9689+30T>C (n.9689+30T>C)
n.9759+30T>C
c.*5371+30T>C (n.*5371+30T>C)
c.9614+30T>C (n.9614+30T>C)
c.9686+30T>C (n.9686+30T>C)
c.9611+30T>C (n.9611+30T>C)
c.9311+30T>C (n.9311+30T>C)
c.6575+30T>C (n.6575+30T>C)
c.5468+30T>C (n.5468+30T>C)
c.9494+30T>C (n.9494+30T>C)
c.5246+30T>C (n.5246+30T>C)
c.8474+30T>C (n.8474+30T>C)
8g.99832682T>GCA583884144VPS13Bc.9689+30T>G (n.9689+30T>G)
n.9759+30T>G
c.*5371+30T>G (n.*5371+30T>G)
c.9614+30T>G (n.9614+30T>G)
c.9686+30T>G (n.9686+30T>G)
c.9611+30T>G (n.9611+30T>G)
c.9311+30T>G (n.9311+30T>G)
c.6575+30T>G (n.6575+30T>G)
c.5468+30T>G (n.5468+30T>G)
c.9494+30T>G (n.9494+30T>G)
c.5246+30T>G (n.5246+30T>G)
c.8474+30T>G (n.8474+30T>G)
 dbSNP gnomAD v2 gnomAD v4
8g.99832683T>ACA2781480055VPS13Bc.9689+31T>A (n.9689+31T>A)
n.9759+31T>A
c.*5371+31T>A (n.*5371+31T>A)
c.9614+31T>A (n.9614+31T>A)
c.9686+31T>A (n.9686+31T>A)
c.9611+31T>A (n.9611+31T>A)
c.9311+31T>A (n.9311+31T>A)
c.6575+31T>A (n.6575+31T>A)
c.5468+31T>A (n.5468+31T>A)
c.9494+31T>A (n.9494+31T>A)
c.5246+31T>A (n.5246+31T>A)
c.8474+31T>A (n.8474+31T>A)
8g.99832684_99832690delCA2781480054VPS13Bc.9689+32_9689+38del (n.9689+32_9689+38del)
n.9759+32_9759+38del
c.*5371+32_*5371+38del (n.*5371+32_*5371+38del)
c.9614+32_9614+38del (n.9614+32_9614+38del)
c.9686+32_9686+38del (n.9686+32_9686+38del)
c.9611+32_9611+38del (n.9611+32_9611+38del)
c.9311+32_9311+38del (n.9311+32_9311+38del)
c.6575+32_6575+38del (n.6575+32_6575+38del)
c.5468+32_5468+38del (n.5468+32_5468+38del)
c.9494+32_9494+38del (n.9494+32_9494+38del)
c.5246+32_5246+38del (n.5246+32_5246+38del)
c.8474+32_8474+38del (n.8474+32_8474+38del)
8g.99832683_99832684insACA2781480057VPS13Bc.9689+31_9689+32insA (n.9689+31_9689+32insA)
n.9759+31_9759+32insA
c.*5371+31_*5371+32insA (n.*5371+31_*5371+32insA)
c.9614+31_9614+32insA (n.9614+31_9614+32insA)
c.9686+31_9686+32insA (n.9686+31_9686+32insA)
c.9611+31_9611+32insA (n.9611+31_9611+32insA)
c.9311+31_9311+32insA (n.9311+31_9311+32insA)
c.6575+31_6575+32insA (n.6575+31_6575+32insA)
c.5468+31_5468+32insA (n.5468+31_5468+32insA)
c.9494+31_9494+32insA (n.9494+31_9494+32insA)
c.5246+31_5246+32insA (n.5246+31_5246+32insA)
c.8474+31_8474+32insA (n.8474+31_8474+32insA)
8g.99832684_99832694delCA2781480058VPS13Bc.9689+32_9689+42del (n.9689+32_9689+42del)
n.9759+32_9759+42del
c.*5371+32_*5371+42del (n.*5371+32_*5371+42del)
c.9614+32_9614+42del (n.9614+32_9614+42del)
c.9686+32_9686+42del (n.9686+32_9686+42del)
c.9611+32_9611+42del (n.9611+32_9611+42del)
c.9311+32_9311+42del (n.9311+32_9311+42del)
c.6575+32_6575+42del (n.6575+32_6575+42del)
c.5468+32_5468+42del (n.5468+32_5468+42del)
c.9494+32_9494+42del (n.9494+32_9494+42del)
c.5246+32_5246+42del (n.5246+32_5246+42del)
c.8474+32_8474+42del (n.8474+32_8474+42del)
8g.99832687T>CCA4824745VPS13Bc.9689+35T>C (n.9689+35T>C)
n.9759+35T>C
c.*5371+35T>C (n.*5371+35T>C)
c.9614+35T>C (n.9614+35T>C)
c.9686+35T>C (n.9686+35T>C)
c.9611+35T>C (n.9611+35T>C)
c.9311+35T>C (n.9311+35T>C)
c.6575+35T>C (n.6575+35T>C)
c.5468+35T>C (n.5468+35T>C)
c.9494+35T>C (n.9494+35T>C)
c.5246+35T>C (n.5246+35T>C)
c.8474+35T>C (n.8474+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99832688G>TCA583884145VPS13Bc.9689+36G>T (n.9689+36G>T)
n.9759+36G>T
c.*5371+36G>T (n.*5371+36G>T)
c.9614+36G>T (n.9614+36G>T)
c.9686+36G>T (n.9686+36G>T)
c.9611+36G>T (n.9611+36G>T)
c.9311+36G>T (n.9311+36G>T)
c.6575+36G>T (n.6575+36G>T)
c.5468+36G>T (n.5468+36G>T)
c.9494+36G>T (n.9494+36G>T)
c.5246+36G>T (n.5246+36G>T)
c.8474+36G>T (n.8474+36G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.99832689C>ACA2688070461VPS13Bc.9689+37C>A (n.9689+37C>A)
n.9759+37C>A
c.*5371+37C>A (n.*5371+37C>A)
c.9614+37C>A (n.9614+37C>A)
c.9686+37C>A (n.9686+37C>A)
c.9611+37C>A (n.9611+37C>A)
c.9311+37C>A (n.9311+37C>A)
c.6575+37C>A (n.6575+37C>A)
c.5468+37C>A (n.5468+37C>A)
c.9494+37C>A (n.9494+37C>A)
c.5246+37C>A (n.5246+37C>A)
c.8474+37C>A (n.8474+37C>A)
 gnomAD v4
8g.99832689C>GCA2579210779VPS13Bc.9689+37C>G (n.9689+37C>G)
n.9759+37C>G
c.*5371+37C>G (n.*5371+37C>G)
c.9614+37C>G (n.9614+37C>G)
c.9686+37C>G (n.9686+37C>G)
c.9611+37C>G (n.9611+37C>G)
c.9311+37C>G (n.9311+37C>G)
c.6575+37C>G (n.6575+37C>G)
c.5468+37C>G (n.5468+37C>G)
c.9494+37C>G (n.9494+37C>G)
c.5246+37C>G (n.5246+37C>G)
c.8474+37C>G (n.8474+37C>G)
 gnomAD v4
8g.99832689C>TCA2718047535VPS13Bc.9689+37C>T (n.9689+37C>T)
n.9759+37C>T
c.*5371+37C>T (n.*5371+37C>T)
c.9614+37C>T (n.9614+37C>T)
c.9686+37C>T (n.9686+37C>T)
c.9611+37C>T (n.9611+37C>T)
c.9311+37C>T (n.9311+37C>T)
c.6575+37C>T (n.6575+37C>T)
c.5468+37C>T (n.5468+37C>T)
c.9494+37C>T (n.9494+37C>T)
c.5246+37C>T (n.5246+37C>T)
c.8474+37C>T (n.8474+37C>T)
 dbSNP
8g.99832690T>CCA2688070462VPS13Bc.9689+38T>C (n.9689+38T>C)
n.9759+38T>C
c.*5371+38T>C (n.*5371+38T>C)
c.9614+38T>C (n.9614+38T>C)
c.9686+38T>C (n.9686+38T>C)
c.9611+38T>C (n.9611+38T>C)
c.9311+38T>C (n.9311+38T>C)
c.6575+38T>C (n.6575+38T>C)
c.5468+38T>C (n.5468+38T>C)
c.9494+38T>C (n.9494+38T>C)
c.5246+38T>C (n.5246+38T>C)
c.8474+38T>C (n.8474+38T>C)
 gnomAD v4
8g.99832691_99832693delCA2781480059VPS13Bc.9689+39_9689+41del (n.9689+39_9689+41del)
n.9759+39_9759+41del
c.*5371+39_*5371+41del (n.*5371+39_*5371+41del)
c.9614+39_9614+41del (n.9614+39_9614+41del)
c.9686+39_9686+41del (n.9686+39_9686+41del)
c.9611+39_9611+41del (n.9611+39_9611+41del)
c.9311+39_9311+41del (n.9311+39_9311+41del)
c.6575+39_6575+41del (n.6575+39_6575+41del)
c.5468+39_5468+41del (n.5468+39_5468+41del)
c.9494+39_9494+41del (n.9494+39_9494+41del)
c.5246+39_5246+41del (n.5246+39_5246+41del)
c.8474+39_8474+41del (n.8474+39_8474+41del)
8g.99832691T>ACA2781480062VPS13Bc.9689+39T>A (n.9689+39T>A)
n.9759+39T>A
c.*5371+39T>A (n.*5371+39T>A)
c.9614+39T>A (n.9614+39T>A)
c.9686+39T>A (n.9686+39T>A)
c.9611+39T>A (n.9611+39T>A)
c.9311+39T>A (n.9311+39T>A)
c.6575+39T>A (n.6575+39T>A)
c.5468+39T>A (n.5468+39T>A)
c.9494+39T>A (n.9494+39T>A)
c.5246+39T>A (n.5246+39T>A)
c.8474+39T>A (n.8474+39T>A)
8g.99832692_99832693delCA2781480061VPS13Bc.9689+40_9689+41del (n.9689+40_9689+41del)
n.9759+40_9759+41del
c.*5371+40_*5371+41del (n.*5371+40_*5371+41del)
c.9614+40_9614+41del (n.9614+40_9614+41del)
c.9686+40_9686+41del (n.9686+40_9686+41del)
c.9611+40_9611+41del (n.9611+40_9611+41del)
c.9311+40_9311+41del (n.9311+40_9311+41del)
c.6575+40_6575+41del (n.6575+40_6575+41del)
c.5468+40_5468+41del (n.5468+40_5468+41del)
c.9494+40_9494+41del (n.9494+40_9494+41del)
c.5246+40_5246+41del (n.5246+40_5246+41del)
c.8474+40_8474+41del (n.8474+40_8474+41del)
8g.99832692G>ACA2718047574VPS13Bc.9689+40G>A (n.9689+40G>A)
n.9759+40G>A
c.*5371+40G>A (n.*5371+40G>A)
c.9614+40G>A (n.9614+40G>A)
c.9686+40G>A (n.9686+40G>A)
c.9611+40G>A (n.9611+40G>A)
c.9311+40G>A (n.9311+40G>A)
c.6575+40G>A (n.6575+40G>A)
c.5468+40G>A (n.5468+40G>A)
c.9494+40G>A (n.9494+40G>A)
c.5246+40G>A (n.5246+40G>A)
c.8474+40G>A (n.8474+40G>A)
 dbSNP
8g.99832692_99832694delCA2781480063VPS13Bc.9689+40_9689+42del (n.9689+40_9689+42del)
n.9759+40_9759+42del
c.*5371+40_*5371+42del (n.*5371+40_*5371+42del)
c.9614+40_9614+42del (n.9614+40_9614+42del)
c.9686+40_9686+42del (n.9686+40_9686+42del)
c.9611+40_9611+42del (n.9611+40_9611+42del)
c.9311+40_9311+42del (n.9311+40_9311+42del)
c.6575+40_6575+42del (n.6575+40_6575+42del)
c.5468+40_5468+42del (n.5468+40_5468+42del)
c.9494+40_9494+42del (n.9494+40_9494+42del)
c.5246+40_5246+42del (n.5246+40_5246+42del)
c.8474+40_8474+42del (n.8474+40_8474+42del)
8g.99832693T>ACA2579210780VPS13Bc.9689+41T>A (n.9689+41T>A)
n.9759+41T>A
c.*5371+41T>A (n.*5371+41T>A)
c.9614+41T>A (n.9614+41T>A)
c.9686+41T>A (n.9686+41T>A)
c.9611+41T>A (n.9611+41T>A)
c.9311+41T>A (n.9311+41T>A)
c.6575+41T>A (n.6575+41T>A)
c.5468+41T>A (n.5468+41T>A)
c.9494+41T>A (n.9494+41T>A)
c.5246+41T>A (n.5246+41T>A)
c.8474+41T>A (n.8474+41T>A)
8g.99832693T>CCA2579210781VPS13Bc.9689+41T>C (n.9689+41T>C)
n.9759+41T>C
c.*5371+41T>C (n.*5371+41T>C)
c.9614+41T>C (n.9614+41T>C)
c.9686+41T>C (n.9686+41T>C)
c.9611+41T>C (n.9611+41T>C)
c.9311+41T>C (n.9311+41T>C)
c.6575+41T>C (n.6575+41T>C)
c.5468+41T>C (n.5468+41T>C)
c.9494+41T>C (n.9494+41T>C)
c.5246+41T>C (n.5246+41T>C)
c.8474+41T>C (n.8474+41T>C)

Number of alleles fetched