Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
8g.99835690A>CCA462340985VPS13Bc.9969A>C (p.Val3323=)
n.10039A>C
c.*5651A>C (n.*5651A>C)
c.9894A>C (p.Val3298=)
c.9966A>C (p.Val3322=)
c.9891A>C (p.Val3297=)
c.9591A>C (p.Val3197=)
c.6855A>C (p.Val2285=)
c.5748A>C (p.Val1916=)
c.9774A>C (p.Val3258=)
c.5526A>C (p.Val1842=)
c.8754A>C (p.Val2918=)
8g.99835690A>GCA462340986VPS13Bc.9969A>G (p.Val3323=)
n.10039A>G
c.*5651A>G (n.*5651A>G)
c.9894A>G (p.Val3298=)
c.9966A>G (p.Val3322=)
c.9891A>G (p.Val3297=)
c.9591A>G (p.Val3197=)
c.6855A>G (p.Val2285=)
c.5748A>G (p.Val1916=)
c.9774A>G (p.Val3258=)
c.5526A>G (p.Val1842=)
c.8754A>G (p.Val2918=)
 gnomAD v4
8g.99835690A>TCA462340988VPS13Bc.9969A>T (p.Val3323=)
n.10039A>T
c.*5651A>T (n.*5651A>T)
c.9894A>T (p.Val3298=)
c.9966A>T (p.Val3322=)
c.9891A>T (p.Val3297=)
c.9591A>T (p.Val3197=)
c.6855A>T (p.Val2285=)
c.5748A>T (p.Val1916=)
c.9774A>T (p.Val3258=)
c.5526A>T (p.Val1842=)
c.8754A>T (p.Val2918=)
8g.99835691A>CCA371784677VPS13Bc.9970A>C (p.Thr3324Pro)
n.10040A>C
c.*5652A>C (n.*5652A>C)
c.9895A>C (p.Thr3299Pro)
c.9967A>C (p.Thr3323Pro)
c.9892A>C (p.Thr3298Pro)
c.9592A>C (p.Thr3198Pro)
c.6856A>C (p.Thr2286Pro)
c.5749A>C (p.Thr1917Pro)
c.9775A>C (p.Thr3259Pro)
c.5527A>C (p.Thr1843Pro)
c.8755A>C (p.Thr2919Pro)
8g.99835691A>GCA371784681VPS13Bc.9970A>G (p.Thr3324Ala)
n.10040A>G
c.*5652A>G (n.*5652A>G)
c.9895A>G (p.Thr3299Ala)
c.9967A>G (p.Thr3323Ala)
c.9892A>G (p.Thr3298Ala)
c.9592A>G (p.Thr3198Ala)
c.6856A>G (p.Thr2286Ala)
c.5749A>G (p.Thr1917Ala)
c.9775A>G (p.Thr3259Ala)
c.5527A>G (p.Thr1843Ala)
c.8755A>G (p.Thr2919Ala)
 gnomAD v4
8g.99835691A>TCA371784683VPS13Bc.9970A>T (p.Thr3324Ser)
n.10040A>T
c.*5652A>T (n.*5652A>T)
c.9895A>T (p.Thr3299Ser)
c.9967A>T (p.Thr3323Ser)
c.9892A>T (p.Thr3298Ser)
c.9592A>T (p.Thr3198Ser)
c.6856A>T (p.Thr2286Ser)
c.5749A>T (p.Thr1917Ser)
c.9775A>T (p.Thr3259Ser)
c.5527A>T (p.Thr1843Ser)
c.8755A>T (p.Thr2919Ser)
8g.99835692C>ACA371784688VPS13Bc.9971C>A (p.Thr3324Lys)
n.10041C>A
c.*5653C>A (n.*5653C>A)
c.9896C>A (p.Thr3299Lys)
c.9968C>A (p.Thr3323Lys)
c.9893C>A (p.Thr3298Lys)
c.9593C>A (p.Thr3198Lys)
c.6857C>A (p.Thr2286Lys)
c.5750C>A (p.Thr1917Lys)
c.9776C>A (p.Thr3259Lys)
c.5528C>A (p.Thr1843Lys)
c.8756C>A (p.Thr2919Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99835692C>GCA371784693VPS13Bc.9971C>G (p.Thr3324Arg)
n.10041C>G
c.*5653C>G (n.*5653C>G)
c.9896C>G (p.Thr3299Arg)
c.9968C>G (p.Thr3323Arg)
c.9893C>G (p.Thr3298Arg)
c.9593C>G (p.Thr3198Arg)
c.6857C>G (p.Thr2286Arg)
c.5750C>G (p.Thr1917Arg)
c.9776C>G (p.Thr3259Arg)
c.5528C>G (p.Thr1843Arg)
c.8756C>G (p.Thr2919Arg)
8g.99835692C>TCA371784695VPS13Bc.9971C>T (p.Thr3324Ile)
n.10041C>T
c.*5653C>T (n.*5653C>T)
c.9896C>T (p.Thr3299Ile)
c.9968C>T (p.Thr3323Ile)
c.9893C>T (p.Thr3298Ile)
c.9593C>T (p.Thr3198Ile)
c.6857C>T (p.Thr2286Ile)
c.5750C>T (p.Thr1917Ile)
c.9776C>T (p.Thr3259Ile)
c.5528C>T (p.Thr1843Ile)
c.8756C>T (p.Thr2919Ile)
8g.99835693A>CCA462340994VPS13Bc.9972A>C (p.Thr3324=)
n.10042A>C
c.*5654A>C (n.*5654A>C)
c.9897A>C (p.Thr3299=)
c.9969A>C (p.Thr3323=)
c.9894A>C (p.Thr3298=)
c.9594A>C (p.Thr3198=)
c.6858A>C (p.Thr2286=)
c.5751A>C (p.Thr1917=)
c.9777A>C (p.Thr3259=)
c.5529A>C (p.Thr1843=)
c.8757A>C (p.Thr2919=)
8g.99835693A>GCA462340996VPS13Bc.9972A>G (p.Thr3324=)
n.10042A>G
c.*5654A>G (n.*5654A>G)
c.9897A>G (p.Thr3299=)
c.9969A>G (p.Thr3323=)
c.9894A>G (p.Thr3298=)
c.9594A>G (p.Thr3198=)
c.6858A>G (p.Thr2286=)
c.5751A>G (p.Thr1917=)
c.9777A>G (p.Thr3259=)
c.5529A>G (p.Thr1843=)
c.8757A>G (p.Thr2919=)
8g.99835693A>TCA462340997VPS13Bc.9972A>T (p.Thr3324=)
n.10042A>T
c.*5654A>T (n.*5654A>T)
c.9897A>T (p.Thr3299=)
c.9969A>T (p.Thr3323=)
c.9894A>T (p.Thr3298=)
c.9594A>T (p.Thr3198=)
c.6858A>T (p.Thr2286=)
c.5751A>T (p.Thr1917=)
c.9777A>T (p.Thr3259=)
c.5529A>T (p.Thr1843=)
c.8757A>T (p.Thr2919=)
8g.99835694A>CCA371784698VPS13Bc.9973A>C (p.Thr3325Pro)
n.10043A>C
c.*5655A>C (n.*5655A>C)
c.9898A>C (p.Thr3300Pro)
c.9970A>C (p.Thr3324Pro)
c.9895A>C (p.Thr3299Pro)
c.9595A>C (p.Thr3199Pro)
c.6859A>C (p.Thr2287Pro)
c.5752A>C (p.Thr1918Pro)
c.9778A>C (p.Thr3260Pro)
c.5530A>C (p.Thr1844Pro)
c.8758A>C (p.Thr2920Pro)
8g.99835694A>GCA371784701VPS13Bc.9973A>G (p.Thr3325Ala)
n.10043A>G
c.*5655A>G (n.*5655A>G)
c.9898A>G (p.Thr3300Ala)
c.9970A>G (p.Thr3324Ala)
c.9895A>G (p.Thr3299Ala)
c.9595A>G (p.Thr3199Ala)
c.6859A>G (p.Thr2287Ala)
c.5752A>G (p.Thr1918Ala)
c.9778A>G (p.Thr3260Ala)
c.5530A>G (p.Thr1844Ala)
c.8758A>G (p.Thr2920Ala)
 gnomAD v4
8g.99835694A>TCA371784702VPS13Bc.9973A>T (p.Thr3325Ser)
n.10043A>T
c.*5655A>T (n.*5655A>T)
c.9898A>T (p.Thr3300Ser)
c.9970A>T (p.Thr3324Ser)
c.9895A>T (p.Thr3299Ser)
c.9595A>T (p.Thr3199Ser)
c.6859A>T (p.Thr2287Ser)
c.5752A>T (p.Thr1918Ser)
c.9778A>T (p.Thr3260Ser)
c.5530A>T (p.Thr1844Ser)
c.8758A>T (p.Thr2920Ser)
8g.99835695C>ACA371784705VPS13Bc.9974C>A (p.Thr3325Asn)
n.10044C>A
c.*5656C>A (n.*5656C>A)
c.9899C>A (p.Thr3300Asn)
c.9971C>A (p.Thr3324Asn)
c.9896C>A (p.Thr3299Asn)
c.9596C>A (p.Thr3199Asn)
c.6860C>A (p.Thr2287Asn)
c.5753C>A (p.Thr1918Asn)
c.9779C>A (p.Thr3260Asn)
c.5531C>A (p.Thr1844Asn)
c.8759C>A (p.Thr2920Asn)
 gnomAD v4
8g.99835695C>GCA371784708VPS13Bc.9974C>G (p.Thr3325Ser)
n.10044C>G
c.*5656C>G (n.*5656C>G)
c.9899C>G (p.Thr3300Ser)
c.9971C>G (p.Thr3324Ser)
c.9896C>G (p.Thr3299Ser)
c.9596C>G (p.Thr3199Ser)
c.6860C>G (p.Thr2287Ser)
c.5753C>G (p.Thr1918Ser)
c.9779C>G (p.Thr3260Ser)
c.5531C>G (p.Thr1844Ser)
c.8759C>G (p.Thr2920Ser)
8g.99835695C>TCA371784712VPS13Bc.9974C>T (p.Thr3325Ile)
n.10044C>T
c.*5656C>T (n.*5656C>T)
c.9899C>T (p.Thr3300Ile)
c.9971C>T (p.Thr3324Ile)
c.9896C>T (p.Thr3299Ile)
c.9596C>T (p.Thr3199Ile)
c.6860C>T (p.Thr2287Ile)
c.5753C>T (p.Thr1918Ile)
c.9779C>T (p.Thr3260Ile)
c.5531C>T (p.Thr1844Ile)
c.8759C>T (p.Thr2920Ile)
8g.99835696T>ACA462341003VPS13Bc.9975T>A (p.Thr3325=)
n.10045T>A
c.*5657T>A (n.*5657T>A)
c.9900T>A (p.Thr3300=)
c.9972T>A (p.Thr3324=)
c.9897T>A (p.Thr3299=)
c.9597T>A (p.Thr3199=)
c.6861T>A (p.Thr2287=)
c.5754T>A (p.Thr1918=)
c.9780T>A (p.Thr3260=)
c.5532T>A (p.Thr1844=)
c.8760T>A (p.Thr2920=)
8g.99835696T>CCA462341004VPS13Bc.9975T>C (p.Thr3325=)
n.10045T>C
c.*5657T>C (n.*5657T>C)
c.9900T>C (p.Thr3300=)
c.9972T>C (p.Thr3324=)
c.9897T>C (p.Thr3299=)
c.9597T>C (p.Thr3199=)
c.6861T>C (p.Thr2287=)
c.5754T>C (p.Thr1918=)
c.9780T>C (p.Thr3260=)
c.5532T>C (p.Thr1844=)
c.8760T>C (p.Thr2920=)
 gnomAD v4
8g.99835696T>GCA462341006VPS13Bc.9975T>G (p.Thr3325=)
n.10045T>G
c.*5657T>G (n.*5657T>G)
c.9900T>G (p.Thr3300=)
c.9972T>G (p.Thr3324=)
c.9897T>G (p.Thr3299=)
c.9597T>G (p.Thr3199=)
c.6861T>G (p.Thr2287=)
c.5754T>G (p.Thr1918=)
c.9780T>G (p.Thr3260=)
c.5532T>G (p.Thr1844=)
c.8760T>G (p.Thr2920=)
8g.99835697G>ACA371784716VPS13Bc.9976G>A (p.Glu3326Lys)
n.10046G>A
c.*5658G>A (n.*5658G>A)
c.9901G>A (p.Glu3301Lys)
c.9973G>A (p.Glu3325Lys)
c.9898G>A (p.Glu3300Lys)
c.9598G>A (p.Glu3200Lys)
c.6862G>A (p.Glu2288Lys)
c.5755G>A (p.Glu1919Lys)
c.9781G>A (p.Glu3261Lys)
c.5533G>A (p.Glu1845Lys)
c.8761G>A (p.Glu2921Lys)
8g.99835697G>CCA371784727VPS13Bc.9976G>C (p.Glu3326Gln)
n.10046G>C
c.*5658G>C (n.*5658G>C)
c.9901G>C (p.Glu3301Gln)
c.9973G>C (p.Glu3325Gln)
c.9898G>C (p.Glu3300Gln)
c.9598G>C (p.Glu3200Gln)
c.6862G>C (p.Glu2288Gln)
c.5755G>C (p.Glu1919Gln)
c.9781G>C (p.Glu3261Gln)
c.5533G>C (p.Glu1845Gln)
c.8761G>C (p.Glu2921Gln)
8g.99835697G>TCA371784719VPS13Bc.9976G>T (p.Glu3326Ter)
n.10046G>T
c.*5658G>T (n.*5658G>T)
c.9901G>T (p.Glu3301Ter)
c.9973G>T (p.Glu3325Ter)
c.9898G>T (p.Glu3300Ter)
c.9598G>T (p.Glu3200Ter)
c.6862G>T (p.Glu2288Ter)
c.5755G>T (p.Glu1919Ter)
c.9781G>T (p.Glu3261Ter)
c.5533G>T (p.Glu1845Ter)
c.8761G>T (p.Glu2921Ter)
8g.99835698A>CCA371784730VPS13Bc.9977A>C (p.Glu3326Ala)
n.10047A>C
c.*5659A>C (n.*5659A>C)
c.9902A>C (p.Glu3301Ala)
c.9974A>C (p.Glu3325Ala)
c.9899A>C (p.Glu3300Ala)
c.9599A>C (p.Glu3200Ala)
c.6863A>C (p.Glu2288Ala)
c.5756A>C (p.Glu1919Ala)
c.9782A>C (p.Glu3261Ala)
c.5534A>C (p.Glu1845Ala)
c.8762A>C (p.Glu2921Ala)
8g.99835698A>GCA371784732VPS13Bc.9977A>G (p.Glu3326Gly)
n.10047A>G
c.*5659A>G (n.*5659A>G)
c.9902A>G (p.Glu3301Gly)
c.9974A>G (p.Glu3325Gly)
c.9899A>G (p.Glu3300Gly)
c.9599A>G (p.Glu3200Gly)
c.6863A>G (p.Glu2288Gly)
c.5756A>G (p.Glu1919Gly)
c.9782A>G (p.Glu3261Gly)
c.5534A>G (p.Glu1845Gly)
c.8762A>G (p.Glu2921Gly)
8g.99835698A>TCA371784731VPS13Bc.9977A>T (p.Glu3326Val)
n.10047A>T
c.*5659A>T (n.*5659A>T)
c.9902A>T (p.Glu3301Val)
c.9974A>T (p.Glu3325Val)
c.9899A>T (p.Glu3300Val)
c.9599A>T (p.Glu3200Val)
c.6863A>T (p.Glu2288Val)
c.5756A>T (p.Glu1919Val)
c.9782A>T (p.Glu3261Val)
c.5534A>T (p.Glu1845Val)
c.8762A>T (p.Glu2921Val)
8g.99835699G>ACA235239VPS13Bc.9978G>A (p.Glu3326=)
n.10048G>A
c.*5660G>A (n.*5660G>A)
c.9903G>A (p.Glu3301=)
c.9975G>A (p.Glu3325=)
c.9900G>A (p.Glu3300=)
c.9600G>A (p.Glu3200=)
c.6864G>A (p.Glu2288=)
c.5757G>A (p.Glu1919=)
c.9783G>A (p.Glu3261=)
c.5535G>A (p.Glu1845=)
c.8763G>A (p.Glu2921=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835699G>CCA371784734VPS13Bc.9978G>C (p.Glu3326Asp)
n.10048G>C
c.*5660G>C (n.*5660G>C)
c.9903G>C (p.Glu3301Asp)
c.9975G>C (p.Glu3325Asp)
c.9900G>C (p.Glu3300Asp)
c.9600G>C (p.Glu3200Asp)
c.6864G>C (p.Glu2288Asp)
c.5757G>C (p.Glu1919Asp)
c.9783G>C (p.Glu3261Asp)
c.5535G>C (p.Glu1845Asp)
c.8763G>C (p.Glu2921Asp)
 gnomAD v4
8g.99835699G>TCA371784736VPS13Bc.9978G>T (p.Glu3326Asp)
n.10048G>T
c.*5660G>T (n.*5660G>T)
c.9903G>T (p.Glu3301Asp)
c.9975G>T (p.Glu3325Asp)
c.9900G>T (p.Glu3300Asp)
c.9600G>T (p.Glu3200Asp)
c.6864G>T (p.Glu2288Asp)
c.5757G>T (p.Glu1919Asp)
c.9783G>T (p.Glu3261Asp)
c.5535G>T (p.Glu1845Asp)
c.8763G>T (p.Glu2921Asp)
8g.99835700T>ACA371784740VPS13Bc.9979T>A (p.Trp3327Arg)
n.10049T>A
c.*5661T>A (n.*5661T>A)
c.9904T>A (p.Trp3302Arg)
c.9976T>A (p.Trp3326Arg)
c.9901T>A (p.Trp3301Arg)
c.9601T>A (p.Trp3201Arg)
c.6865T>A (p.Trp2289Arg)
c.5758T>A (p.Trp1920Arg)
c.9784T>A (p.Trp3262Arg)
c.5536T>A (p.Trp1846Arg)
c.8764T>A (p.Trp2922Arg)
8g.99835700T>CCA371784742VPS13Bc.9979T>C (p.Trp3327Arg)
n.10049T>C
c.*5661T>C (n.*5661T>C)
c.9904T>C (p.Trp3302Arg)
c.9976T>C (p.Trp3326Arg)
c.9901T>C (p.Trp3301Arg)
c.9601T>C (p.Trp3201Arg)
c.6865T>C (p.Trp2289Arg)
c.5758T>C (p.Trp1920Arg)
c.9784T>C (p.Trp3262Arg)
c.5536T>C (p.Trp1846Arg)
c.8764T>C (p.Trp2922Arg)
8g.99835700T>GCA371784745VPS13Bc.9979T>G (p.Trp3327Gly)
n.10049T>G
c.*5661T>G (n.*5661T>G)
c.9904T>G (p.Trp3302Gly)
c.9976T>G (p.Trp3326Gly)
c.9901T>G (p.Trp3301Gly)
c.9601T>G (p.Trp3201Gly)
c.6865T>G (p.Trp2289Gly)
c.5758T>G (p.Trp1920Gly)
c.9784T>G (p.Trp3262Gly)
c.5536T>G (p.Trp1846Gly)
c.8764T>G (p.Trp2922Gly)
 dbSNP gnomAD v4
8g.99835701G>ACA371784750VPS13Bc.9980G>A (p.Trp3327Ter)
n.10050G>A
c.*5662G>A (n.*5662G>A)
c.9905G>A (p.Trp3302Ter)
c.9977G>A (p.Trp3326Ter)
c.9902G>A (p.Trp3301Ter)
c.9602G>A (p.Trp3201Ter)
c.6866G>A (p.Trp2289Ter)
c.5759G>A (p.Trp1920Ter)
c.9785G>A (p.Trp3262Ter)
c.5537G>A (p.Trp1846Ter)
c.8765G>A (p.Trp2922Ter)
 ClinVar dbSNP gnomAD v4
8g.99835701G>CCA371784763VPS13Bc.9980G>C (p.Trp3327Ser)
n.10050G>C
c.*5662G>C (n.*5662G>C)
c.9905G>C (p.Trp3302Ser)
c.9977G>C (p.Trp3326Ser)
c.9902G>C (p.Trp3301Ser)
c.9602G>C (p.Trp3201Ser)
c.6866G>C (p.Trp2289Ser)
c.5759G>C (p.Trp1920Ser)
c.9785G>C (p.Trp3262Ser)
c.5537G>C (p.Trp1846Ser)
c.8765G>C (p.Trp2922Ser)
8g.99835701G>TCA371784769VPS13Bc.9980G>T (p.Trp3327Leu)
n.10050G>T
c.*5662G>T (n.*5662G>T)
c.9905G>T (p.Trp3302Leu)
c.9977G>T (p.Trp3326Leu)
c.9902G>T (p.Trp3301Leu)
c.9602G>T (p.Trp3201Leu)
c.6866G>T (p.Trp2289Leu)
c.5759G>T (p.Trp1920Leu)
c.9785G>T (p.Trp3262Leu)
c.5537G>T (p.Trp1846Leu)
c.8765G>T (p.Trp2922Leu)
8g.99835702G>ACA371784776VPS13Bc.9981G>A (p.Trp3327Ter)
n.10051G>A
c.*5663G>A (n.*5663G>A)
c.9906G>A (p.Trp3302Ter)
c.9978G>A (p.Trp3326Ter)
c.9903G>A (p.Trp3301Ter)
c.9603G>A (p.Trp3201Ter)
c.6867G>A (p.Trp2289Ter)
c.5760G>A (p.Trp1920Ter)
c.9786G>A (p.Trp3262Ter)
c.5538G>A (p.Trp1846Ter)
c.8766G>A (p.Trp2922Ter)
 ClinVar dbSNP
8g.99835702G>CCA371784780VPS13Bc.9981G>C (p.Trp3327Cys)
n.10051G>C
c.*5663G>C (n.*5663G>C)
c.9906G>C (p.Trp3302Cys)
c.9978G>C (p.Trp3326Cys)
c.9903G>C (p.Trp3301Cys)
c.9603G>C (p.Trp3201Cys)
c.6867G>C (p.Trp2289Cys)
c.5760G>C (p.Trp1920Cys)
c.9786G>C (p.Trp3262Cys)
c.5538G>C (p.Trp1846Cys)
c.8766G>C (p.Trp2922Cys)
8g.99835702G>TCA371784783VPS13Bc.9981G>T (p.Trp3327Cys)
n.10051G>T
c.*5663G>T (n.*5663G>T)
c.9906G>T (p.Trp3302Cys)
c.9978G>T (p.Trp3326Cys)
c.9903G>T (p.Trp3301Cys)
c.9603G>T (p.Trp3201Cys)
c.6867G>T (p.Trp2289Cys)
c.5760G>T (p.Trp1920Cys)
c.9786G>T (p.Trp3262Cys)
c.5538G>T (p.Trp1846Cys)
c.8766G>T (p.Trp2922Cys)
8g.99835703A>CCA371784805VPS13Bc.9982A>C (p.Ser3328Arg)
n.10052A>C
c.*5664A>C (n.*5664A>C)
c.9907A>C (p.Ser3303Arg)
c.9979A>C (p.Ser3327Arg)
c.9904A>C (p.Ser3302Arg)
c.9604A>C (p.Ser3202Arg)
c.6868A>C (p.Ser2290Arg)
c.5761A>C (p.Ser1921Arg)
c.9787A>C (p.Ser3263Arg)
c.5539A>C (p.Ser1847Arg)
c.8767A>C (p.Ser2923Arg)
8g.99835703A>GCA371784799VPS13Bc.9982A>G (p.Ser3328Gly)
n.10052A>G
c.*5664A>G (n.*5664A>G)
c.9907A>G (p.Ser3303Gly)
c.9979A>G (p.Ser3327Gly)
c.9904A>G (p.Ser3302Gly)
c.9604A>G (p.Ser3202Gly)
c.6868A>G (p.Ser2290Gly)
c.5761A>G (p.Ser1921Gly)
c.9787A>G (p.Ser3263Gly)
c.5539A>G (p.Ser1847Gly)
c.8767A>G (p.Ser2923Gly)
8g.99835703A>TCA371784795VPS13Bc.9982A>T (p.Ser3328Cys)
n.10052A>T
c.*5664A>T (n.*5664A>T)
c.9907A>T (p.Ser3303Cys)
c.9979A>T (p.Ser3327Cys)
c.9904A>T (p.Ser3302Cys)
c.9604A>T (p.Ser3202Cys)
c.6868A>T (p.Ser2290Cys)
c.5761A>T (p.Ser1921Cys)
c.9787A>T (p.Ser3263Cys)
c.5539A>T (p.Ser1847Cys)
c.8767A>T (p.Ser2923Cys)
8g.99835704G>ACA371784810VPS13Bc.9983G>A (p.Ser3328Asn)
n.10053G>A
c.*5665G>A (n.*5665G>A)
c.9908G>A (p.Ser3303Asn)
c.9980G>A (p.Ser3327Asn)
c.9905G>A (p.Ser3302Asn)
c.9605G>A (p.Ser3202Asn)
c.6869G>A (p.Ser2290Asn)
c.5762G>A (p.Ser1921Asn)
c.9788G>A (p.Ser3263Asn)
c.5540G>A (p.Ser1847Asn)
c.8768G>A (p.Ser2923Asn)
8g.99835704G>CCA371784836VPS13Bc.9983G>C (p.Ser3328Thr)
n.10053G>C
c.*5665G>C (n.*5665G>C)
c.9908G>C (p.Ser3303Thr)
c.9980G>C (p.Ser3327Thr)
c.9905G>C (p.Ser3302Thr)
c.9605G>C (p.Ser3202Thr)
c.6869G>C (p.Ser2290Thr)
c.5762G>C (p.Ser1921Thr)
c.9788G>C (p.Ser3263Thr)
c.5540G>C (p.Ser1847Thr)
c.8768G>C (p.Ser2923Thr)
8g.99835704G>TCA371784839VPS13Bc.9983G>T (p.Ser3328Ile)
n.10053G>T
c.*5665G>T (n.*5665G>T)
c.9908G>T (p.Ser3303Ile)
c.9980G>T (p.Ser3327Ile)
c.9905G>T (p.Ser3302Ile)
c.9605G>T (p.Ser3202Ile)
c.6869G>T (p.Ser2290Ile)
c.5762G>T (p.Ser1921Ile)
c.9788G>T (p.Ser3263Ile)
c.5540G>T (p.Ser1847Ile)
c.8768G>T (p.Ser2923Ile)
8g.99835705T>ACA371784840VPS13Bc.9984T>A (p.Ser3328Arg)
n.10054T>A
c.*5666T>A (n.*5666T>A)
c.9909T>A (p.Ser3303Arg)
c.9981T>A (p.Ser3327Arg)
c.9906T>A (p.Ser3302Arg)
c.9606T>A (p.Ser3202Arg)
c.6870T>A (p.Ser2290Arg)
c.5763T>A (p.Ser1921Arg)
c.9789T>A (p.Ser3263Arg)
c.5541T>A (p.Ser1847Arg)
c.8769T>A (p.Ser2923Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99835705T>CCA462341025VPS13Bc.9984T>C (p.Ser3328=)
n.10054T>C
c.*5666T>C (n.*5666T>C)
c.9909T>C (p.Ser3303=)
c.9981T>C (p.Ser3327=)
c.9906T>C (p.Ser3302=)
c.9606T>C (p.Ser3202=)
c.6870T>C (p.Ser2290=)
c.5763T>C (p.Ser1921=)
c.9789T>C (p.Ser3263=)
c.5541T>C (p.Ser1847=)
c.8769T>C (p.Ser2923=)
8g.99835705T>GCA371784845VPS13Bc.9984T>G (p.Ser3328Arg)
n.10054T>G
c.*5666T>G (n.*5666T>G)
c.9909T>G (p.Ser3303Arg)
c.9981T>G (p.Ser3327Arg)
c.9906T>G (p.Ser3302Arg)
c.9606T>G (p.Ser3202Arg)
c.6870T>G (p.Ser2290Arg)
c.5763T>G (p.Ser1921Arg)
c.9789T>G (p.Ser3263Arg)
c.5541T>G (p.Ser1847Arg)
c.8769T>G (p.Ser2923Arg)
8g.99835706G>ACA371784854VPS13Bc.9985G>A (p.Asp3329Asn)
n.10055G>A
c.*5667G>A (n.*5667G>A)
c.9910G>A (p.Asp3304Asn)
c.9982G>A (p.Asp3328Asn)
c.9907G>A (p.Asp3303Asn)
c.9607G>A (p.Asp3203Asn)
c.6871G>A (p.Asp2291Asn)
c.5764G>A (p.Asp1922Asn)
c.9790G>A (p.Asp3264Asn)
c.5542G>A (p.Asp1848Asn)
c.8770G>A (p.Asp2924Asn)
8g.99835706G>CCA371784856VPS13Bc.9985G>C (p.Asp3329His)
n.10055G>C
c.*5667G>C (n.*5667G>C)
c.9910G>C (p.Asp3304His)
c.9982G>C (p.Asp3328His)
c.9907G>C (p.Asp3303His)
c.9607G>C (p.Asp3203His)
c.6871G>C (p.Asp2291His)
c.5764G>C (p.Asp1922His)
c.9790G>C (p.Asp3264His)
c.5542G>C (p.Asp1848His)
c.8770G>C (p.Asp2924His)
8g.99835706G>TCA371784864VPS13Bc.9985G>T (p.Asp3329Tyr)
n.10055G>T
c.*5667G>T (n.*5667G>T)
c.9910G>T (p.Asp3304Tyr)
c.9982G>T (p.Asp3328Tyr)
c.9907G>T (p.Asp3303Tyr)
c.9607G>T (p.Asp3203Tyr)
c.6871G>T (p.Asp2291Tyr)
c.5764G>T (p.Asp1922Tyr)
c.9790G>T (p.Asp3264Tyr)
c.5542G>T (p.Asp1848Tyr)
c.8770G>T (p.Asp2924Tyr)
 gnomAD v4
8g.99835707A>CCA371784867VPS13Bc.9986A>C (p.Asp3329Ala)
n.10056A>C
c.*5668A>C (n.*5668A>C)
c.9911A>C (p.Asp3304Ala)
c.9983A>C (p.Asp3328Ala)
c.9908A>C (p.Asp3303Ala)
c.9608A>C (p.Asp3203Ala)
c.6872A>C (p.Asp2291Ala)
c.5765A>C (p.Asp1922Ala)
c.9791A>C (p.Asp3264Ala)
c.5543A>C (p.Asp1848Ala)
c.8771A>C (p.Asp2924Ala)
8g.99835707A>GCA371784869VPS13Bc.9986A>G (p.Asp3329Gly)
n.10056A>G
c.*5668A>G (n.*5668A>G)
c.9911A>G (p.Asp3304Gly)
c.9983A>G (p.Asp3328Gly)
c.9908A>G (p.Asp3303Gly)
c.9608A>G (p.Asp3203Gly)
c.6872A>G (p.Asp2291Gly)
c.5765A>G (p.Asp1922Gly)
c.9791A>G (p.Asp3264Gly)
c.5543A>G (p.Asp1848Gly)
c.8771A>G (p.Asp2924Gly)
 ClinVar dbSNP
8g.99835707A>TCA371784870VPS13Bc.9986A>T (p.Asp3329Val)
n.10056A>T
c.*5668A>T (n.*5668A>T)
c.9911A>T (p.Asp3304Val)
c.9983A>T (p.Asp3328Val)
c.9908A>T (p.Asp3303Val)
c.9608A>T (p.Asp3203Val)
c.6872A>T (p.Asp2291Val)
c.5765A>T (p.Asp1922Val)
c.9791A>T (p.Asp3264Val)
c.5543A>T (p.Asp1848Val)
c.8771A>T (p.Asp2924Val)
8g.99835708T>ACA371784871VPS13Bc.9987T>A (p.Asp3329Glu)
n.10057T>A
c.*5669T>A (n.*5669T>A)
c.9912T>A (p.Asp3304Glu)
c.9984T>A (p.Asp3328Glu)
c.9909T>A (p.Asp3303Glu)
c.9609T>A (p.Asp3203Glu)
c.6873T>A (p.Asp2291Glu)
c.5766T>A (p.Asp1922Glu)
c.9792T>A (p.Asp3264Glu)
c.5544T>A (p.Asp1848Glu)
c.8772T>A (p.Asp2924Glu)
8g.99835708T>CCA462341031VPS13Bc.9987T>C (p.Asp3329=)
n.10057T>C
c.*5669T>C (n.*5669T>C)
c.9912T>C (p.Asp3304=)
c.9984T>C (p.Asp3328=)
c.9909T>C (p.Asp3303=)
c.9609T>C (p.Asp3203=)
c.6873T>C (p.Asp2291=)
c.5766T>C (p.Asp1922=)
c.9792T>C (p.Asp3264=)
c.5544T>C (p.Asp1848=)
c.8772T>C (p.Asp2924=)
8g.99835708T>GCA371784872VPS13Bc.9987T>G (p.Asp3329Glu)
n.10057T>G
c.*5669T>G (n.*5669T>G)
c.9912T>G (p.Asp3304Glu)
c.9984T>G (p.Asp3328Glu)
c.9909T>G (p.Asp3303Glu)
c.9609T>G (p.Asp3203Glu)
c.6873T>G (p.Asp2291Glu)
c.5766T>G (p.Asp1922Glu)
c.9792T>G (p.Asp3264Glu)
c.5544T>G (p.Asp1848Glu)
c.8772T>G (p.Asp2924Glu)
8g.99835709G>ACA371784879VPS13Bc.9988G>A (p.Ala3330Thr)
n.10058G>A
c.*5670G>A (n.*5670G>A)
c.9913G>A (p.Ala3305Thr)
c.9985G>A (p.Ala3329Thr)
c.9910G>A (p.Ala3304Thr)
c.9610G>A (p.Ala3204Thr)
c.6874G>A (p.Ala2292Thr)
c.5767G>A (p.Ala1923Thr)
c.9793G>A (p.Ala3265Thr)
c.5545G>A (p.Ala1849Thr)
c.8773G>A (p.Ala2925Thr)
8g.99835709G>CCA371784880VPS13Bc.9988G>C (p.Ala3330Pro)
n.10058G>C
c.*5670G>C (n.*5670G>C)
c.9913G>C (p.Ala3305Pro)
c.9985G>C (p.Ala3329Pro)
c.9910G>C (p.Ala3304Pro)
c.9610G>C (p.Ala3204Pro)
c.6874G>C (p.Ala2292Pro)
c.5767G>C (p.Ala1923Pro)
c.9793G>C (p.Ala3265Pro)
c.5545G>C (p.Ala1849Pro)
c.8773G>C (p.Ala2925Pro)
8g.99835709G>TCA371784876VPS13Bc.9988G>T (p.Ala3330Ser)
n.10058G>T
c.*5670G>T (n.*5670G>T)
c.9913G>T (p.Ala3305Ser)
c.9985G>T (p.Ala3329Ser)
c.9910G>T (p.Ala3304Ser)
c.9610G>T (p.Ala3204Ser)
c.6874G>T (p.Ala2292Ser)
c.5767G>T (p.Ala1923Ser)
c.9793G>T (p.Ala3265Ser)
c.5545G>T (p.Ala1849Ser)
c.8773G>T (p.Ala2925Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.99835710C>ACA371784883VPS13Bc.9989C>A (p.Ala3330Asp)
n.10059C>A
c.*5671C>A (n.*5671C>A)
c.9914C>A (p.Ala3305Asp)
c.9986C>A (p.Ala3329Asp)
c.9911C>A (p.Ala3304Asp)
c.9611C>A (p.Ala3204Asp)
c.6875C>A (p.Ala2292Asp)
c.5768C>A (p.Ala1923Asp)
c.9794C>A (p.Ala3265Asp)
c.5546C>A (p.Ala1849Asp)
c.8774C>A (p.Ala2925Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.99835710C>GCA371784885VPS13Bc.9989C>G (p.Ala3330Gly)
n.10059C>G
c.*5671C>G (n.*5671C>G)
c.9914C>G (p.Ala3305Gly)
c.9986C>G (p.Ala3329Gly)
c.9911C>G (p.Ala3304Gly)
c.9611C>G (p.Ala3204Gly)
c.6875C>G (p.Ala2292Gly)
c.5768C>G (p.Ala1923Gly)
c.9794C>G (p.Ala3265Gly)
c.5546C>G (p.Ala1849Gly)
c.8774C>G (p.Ala2925Gly)
8g.99835710C>TCA371784888VPS13Bc.9989C>T (p.Ala3330Val)
n.10059C>T
c.*5671C>T (n.*5671C>T)
c.9914C>T (p.Ala3305Val)
c.9986C>T (p.Ala3329Val)
c.9911C>T (p.Ala3304Val)
c.9611C>T (p.Ala3204Val)
c.6875C>T (p.Ala2292Val)
c.5768C>T (p.Ala1923Val)
c.9794C>T (p.Ala3265Val)
c.5546C>T (p.Ala1849Val)
c.8774C>T (p.Ala2925Val)
8g.99835711C>ACA182339752VPS13Bc.9990C>A (p.Ala3330=)
n.10060C>A
c.*5672C>A (n.*5672C>A)
c.9915C>A (p.Ala3305=)
c.9987C>A (p.Ala3329=)
c.9912C>A (p.Ala3304=)
c.9612C>A (p.Ala3204=)
c.6876C>A (p.Ala2292=)
c.5769C>A (p.Ala1923=)
c.9795C>A (p.Ala3265=)
c.5547C>A (p.Ala1849=)
c.8775C>A (p.Ala2925=)
 ClinVar dbSNP gnomAD v4
8g.99835711C>GCA462341038VPS13Bc.9990C>G (p.Ala3330=)
n.10060C>G
c.*5672C>G (n.*5672C>G)
c.9915C>G (p.Ala3305=)
c.9987C>G (p.Ala3329=)
c.9912C>G (p.Ala3304=)
c.9612C>G (p.Ala3204=)
c.6876C>G (p.Ala2292=)
c.5769C>G (p.Ala1923=)
c.9795C>G (p.Ala3265=)
c.5547C>G (p.Ala1849=)
c.8775C>G (p.Ala2925=)
8g.99835711C>TCA462341039VPS13Bc.9990C>T (p.Ala3330=)
n.10060C>T
c.*5672C>T (n.*5672C>T)
c.9915C>T (p.Ala3305=)
c.9987C>T (p.Ala3329=)
c.9912C>T (p.Ala3304=)
c.9612C>T (p.Ala3204=)
c.6876C>T (p.Ala2292=)
c.5769C>T (p.Ala1923=)
c.9795C>T (p.Ala3265=)
c.5547C>T (p.Ala1849=)
c.8775C>T (p.Ala2925=)
8g.99835711_99835712delCA913128132VPS13Bc.9990_9991del (p.Ile3331Ter)
n.10060_10061del
c.*5672_*5673del (n.*5672_*5673del)
c.9915_9916del (p.Ile3306Ter)
c.9987_9988del (p.Ile3330Ter)
c.9912_9913del (p.Ile3305Ter)
c.9612_9613del (p.Ile3205Ter)
c.6876_6877del (p.Ile2293Ter)
c.5769_5770del (p.Ile1924Ter)
c.9795_9796del (p.Ile3266Ter)
c.5547_5548del (p.Ile1850Ter)
c.8775_8776del (p.Ile2926Ter)
8g.99835712delCA658823167VPS13Bc.9991del (p.Ile3331LeufsTer13)
n.10061del
c.*5673del (n.*5673del)
c.9916del (p.Ile3306LeufsTer13)
c.9988del (p.Ile3330LeufsTer13)
c.9913del (p.Ile3305LeufsTer13)
c.9613del (p.Ile3205LeufsTer13)
c.6877del (p.Ile2293LeufsTer13)
c.5770del (p.Ile1924LeufsTer13)
c.9796del (p.Ile3266LeufsTer13)
c.5548del (p.Ile1850LeufsTer13)
c.8776del (p.Ile2926LeufsTer13)
 ClinVar dbSNP
8g.99835712A>CCA371784905VPS13Bc.9991A>C (p.Ile3331Leu)
n.10061A>C
c.*5673A>C (n.*5673A>C)
c.9916A>C (p.Ile3306Leu)
c.9988A>C (p.Ile3330Leu)
c.9913A>C (p.Ile3305Leu)
c.9613A>C (p.Ile3205Leu)
c.6877A>C (p.Ile2293Leu)
c.5770A>C (p.Ile1924Leu)
c.9796A>C (p.Ile3266Leu)
c.5548A>C (p.Ile1850Leu)
c.8776A>C (p.Ile2926Leu)
8g.99835712A>GCA4824819VPS13Bc.9991A>G (p.Ile3331Val)
n.10061A>G
c.*5673A>G (n.*5673A>G)
c.9916A>G (p.Ile3306Val)
c.9988A>G (p.Ile3330Val)
c.9913A>G (p.Ile3305Val)
c.9613A>G (p.Ile3205Val)
c.6877A>G (p.Ile2293Val)
c.5770A>G (p.Ile1924Val)
c.9796A>G (p.Ile3266Val)
c.5548A>G (p.Ile1850Val)
c.8776A>G (p.Ile2926Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835712A>TCA371784912VPS13Bc.9991A>T (p.Ile3331Phe)
n.10061A>T
c.*5673A>T (n.*5673A>T)
c.9916A>T (p.Ile3306Phe)
c.9988A>T (p.Ile3330Phe)
c.9913A>T (p.Ile3305Phe)
c.9613A>T (p.Ile3205Phe)
c.6877A>T (p.Ile2293Phe)
c.5770A>T (p.Ile1924Phe)
c.9796A>T (p.Ile3266Phe)
c.5548A>T (p.Ile1850Phe)
c.8776A>T (p.Ile2926Phe)
8g.99835713T>ACA371784925VPS13Bc.9992T>A (p.Ile3331Asn)
n.10062T>A
c.*5674T>A (n.*5674T>A)
c.9917T>A (p.Ile3306Asn)
c.9989T>A (p.Ile3330Asn)
c.9914T>A (p.Ile3305Asn)
c.9614T>A (p.Ile3205Asn)
c.6878T>A (p.Ile2293Asn)
c.5771T>A (p.Ile1924Asn)
c.9797T>A (p.Ile3266Asn)
c.5549T>A (p.Ile1850Asn)
c.8777T>A (p.Ile2926Asn)
8g.99835713T>CCA4824820VPS13Bc.9992T>C (p.Ile3331Thr)
n.10062T>C
c.*5674T>C (n.*5674T>C)
c.9917T>C (p.Ile3306Thr)
c.9989T>C (p.Ile3330Thr)
c.9914T>C (p.Ile3305Thr)
c.9614T>C (p.Ile3205Thr)
c.6878T>C (p.Ile2293Thr)
c.5771T>C (p.Ile1924Thr)
c.9797T>C (p.Ile3266Thr)
c.5549T>C (p.Ile1850Thr)
c.8777T>C (p.Ile2926Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835713T>GCA371784931VPS13Bc.9992T>G (p.Ile3331Ser)
n.10062T>G
c.*5674T>G (n.*5674T>G)
c.9917T>G (p.Ile3306Ser)
c.9989T>G (p.Ile3330Ser)
c.9914T>G (p.Ile3305Ser)
c.9614T>G (p.Ile3205Ser)
c.6878T>G (p.Ile2293Ser)
c.5771T>G (p.Ile1924Ser)
c.9797T>G (p.Ile3266Ser)
c.5549T>G (p.Ile1850Ser)
c.8777T>G (p.Ile2926Ser)
8g.99835714T>ACA462341046VPS13Bc.9993T>A (p.Ile3331=)
n.10063T>A
c.*5675T>A (n.*5675T>A)
c.9918T>A (p.Ile3306=)
c.9990T>A (p.Ile3330=)
c.9915T>A (p.Ile3305=)
c.9615T>A (p.Ile3205=)
c.6879T>A (p.Ile2293=)
c.5772T>A (p.Ile1924=)
c.9798T>A (p.Ile3266=)
c.5550T>A (p.Ile1850=)
c.8778T>A (p.Ile2926=)
8g.99835714T>CCA462341044VPS13Bc.9993T>C (p.Ile3331=)
n.10063T>C
c.*5675T>C (n.*5675T>C)
c.9918T>C (p.Ile3306=)
c.9990T>C (p.Ile3330=)
c.9915T>C (p.Ile3305=)
c.9615T>C (p.Ile3205=)
c.6879T>C (p.Ile2293=)
c.5772T>C (p.Ile1924=)
c.9798T>C (p.Ile3266=)
c.5550T>C (p.Ile1850=)
c.8778T>C (p.Ile2926=)
 gnomAD v4
8g.99835714T>GCA371784934VPS13Bc.9993T>G (p.Ile3331Met)
n.10063T>G
c.*5675T>G (n.*5675T>G)
c.9918T>G (p.Ile3306Met)
c.9990T>G (p.Ile3330Met)
c.9915T>G (p.Ile3305Met)
c.9615T>G (p.Ile3205Met)
c.6879T>G (p.Ile2293Met)
c.5772T>G (p.Ile1924Met)
c.9798T>G (p.Ile3266Met)
c.5550T>G (p.Ile1850Met)
c.8778T>G (p.Ile2926Met)
8g.99835715G>ACA371784940VPS13Bc.9994G>A (p.Asp3332Asn)
n.10064G>A
c.*5676G>A (n.*5676G>A)
c.9919G>A (p.Asp3307Asn)
c.9991G>A (p.Asp3331Asn)
c.9916G>A (p.Asp3306Asn)
c.9616G>A (p.Asp3206Asn)
c.6880G>A (p.Asp2294Asn)
c.5773G>A (p.Asp1925Asn)
c.9799G>A (p.Asp3267Asn)
c.5551G>A (p.Asp1851Asn)
c.8779G>A (p.Asp2927Asn)
 gnomAD v4
8g.99835715G>CCA371784944VPS13Bc.9994G>C (p.Asp3332His)
n.10064G>C
c.*5676G>C (n.*5676G>C)
c.9919G>C (p.Asp3307His)
c.9991G>C (p.Asp3331His)
c.9916G>C (p.Asp3306His)
c.9616G>C (p.Asp3206His)
c.6880G>C (p.Asp2294His)
c.5773G>C (p.Asp1925His)
c.9799G>C (p.Asp3267His)
c.5551G>C (p.Asp1851His)
c.8779G>C (p.Asp2927His)
8g.99835715G>TCA371784952VPS13Bc.9994G>T (p.Asp3332Tyr)
n.10064G>T
c.*5676G>T (n.*5676G>T)
c.9919G>T (p.Asp3307Tyr)
c.9991G>T (p.Asp3331Tyr)
c.9916G>T (p.Asp3306Tyr)
c.9616G>T (p.Asp3206Tyr)
c.6880G>T (p.Asp2294Tyr)
c.5773G>T (p.Asp1925Tyr)
c.9799G>T (p.Asp3267Tyr)
c.5551G>T (p.Asp1851Tyr)
c.8779G>T (p.Asp2927Tyr)
8g.99835716A>CCA371784953VPS13Bc.9995A>C (p.Asp3332Ala)
n.10065A>C
c.*5677A>C (n.*5677A>C)
c.9920A>C (p.Asp3307Ala)
c.9992A>C (p.Asp3331Ala)
c.9917A>C (p.Asp3306Ala)
c.9617A>C (p.Asp3206Ala)
c.6881A>C (p.Asp2294Ala)
c.5774A>C (p.Asp1925Ala)
c.9800A>C (p.Asp3267Ala)
c.5552A>C (p.Asp1851Ala)
c.8780A>C (p.Asp2927Ala)
8g.99835716A>GCA371784955VPS13Bc.9995A>G (p.Asp3332Gly)
n.10065A>G
c.*5677A>G (n.*5677A>G)
c.9920A>G (p.Asp3307Gly)
c.9992A>G (p.Asp3331Gly)
c.9917A>G (p.Asp3306Gly)
c.9617A>G (p.Asp3206Gly)
c.6881A>G (p.Asp2294Gly)
c.5774A>G (p.Asp1925Gly)
c.9800A>G (p.Asp3267Gly)
c.5552A>G (p.Asp1851Gly)
c.8780A>G (p.Asp2927Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99835716A>TCA371784954VPS13Bc.9995A>T (p.Asp3332Val)
n.10065A>T
c.*5677A>T (n.*5677A>T)
c.9920A>T (p.Asp3307Val)
c.9992A>T (p.Asp3331Val)
c.9917A>T (p.Asp3306Val)
c.9617A>T (p.Asp3206Val)
c.6881A>T (p.Asp2294Val)
c.5774A>T (p.Asp1925Val)
c.9800A>T (p.Asp3267Val)
c.5552A>T (p.Asp1851Val)
c.8780A>T (p.Asp2927Val)
8g.99835717C>ACA371784956VPS13Bc.9996C>A (p.Asp3332Glu)
n.10066C>A
c.*5678C>A (n.*5678C>A)
c.9921C>A (p.Asp3307Glu)
c.9993C>A (p.Asp3331Glu)
c.9918C>A (p.Asp3306Glu)
c.9618C>A (p.Asp3206Glu)
c.6882C>A (p.Asp2294Glu)
c.5775C>A (p.Asp1925Glu)
c.9801C>A (p.Asp3267Glu)
c.5553C>A (p.Asp1851Glu)
c.8781C>A (p.Asp2927Glu)
8g.99835717C>GCA371784958VPS13Bc.9996C>G (p.Asp3332Glu)
n.10066C>G
c.*5678C>G (n.*5678C>G)
c.9921C>G (p.Asp3307Glu)
c.9993C>G (p.Asp3331Glu)
c.9918C>G (p.Asp3306Glu)
c.9618C>G (p.Asp3206Glu)
c.6882C>G (p.Asp2294Glu)
c.5775C>G (p.Asp1925Glu)
c.9801C>G (p.Asp3267Glu)
c.5553C>G (p.Asp1851Glu)
c.8781C>G (p.Asp2927Glu)
8g.99835717C>TCA4824821VPS13Bc.9996C>T (p.Asp3332=)
n.10066C>T
c.*5678C>T (n.*5678C>T)
c.9921C>T (p.Asp3307=)
c.9993C>T (p.Asp3331=)
c.9918C>T (p.Asp3306=)
c.9618C>T (p.Asp3206=)
c.6882C>T (p.Asp2294=)
c.5775C>T (p.Asp1925=)
c.9801C>T (p.Asp3267=)
c.5553C>T (p.Asp1851=)
c.8781C>T (p.Asp2927=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99835718A>CCA371784963VPS13Bc.9997A>C (p.Ile3333Leu)
n.10067A>C
c.*5679A>C (n.*5679A>C)
c.9922A>C (p.Ile3308Leu)
c.9994A>C (p.Ile3332Leu)
c.9919A>C (p.Ile3307Leu)
c.9619A>C (p.Ile3207Leu)
c.6883A>C (p.Ile2295Leu)
c.5776A>C (p.Ile1926Leu)
c.9802A>C (p.Ile3268Leu)
c.5554A>C (p.Ile1852Leu)
c.8782A>C (p.Ile2928Leu)
8g.99835718A>GCA4824822VPS13Bc.9997A>G (p.Ile3333Val)
n.10067A>G
c.*5679A>G (n.*5679A>G)
c.9922A>G (p.Ile3308Val)
c.9994A>G (p.Ile3332Val)
c.9919A>G (p.Ile3307Val)
c.9619A>G (p.Ile3207Val)
c.6883A>G (p.Ile2295Val)
c.5776A>G (p.Ile1926Val)
c.9802A>G (p.Ile3268Val)
c.5554A>G (p.Ile1852Val)
c.8782A>G (p.Ile2928Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835718A>TCA371784966VPS13Bc.9997A>T (p.Ile3333Phe)
n.10067A>T
c.*5679A>T (n.*5679A>T)
c.9922A>T (p.Ile3308Phe)
c.9994A>T (p.Ile3332Phe)
c.9919A>T (p.Ile3307Phe)
c.9619A>T (p.Ile3207Phe)
c.6883A>T (p.Ile2295Phe)
c.5776A>T (p.Ile1926Phe)
c.9802A>T (p.Ile3268Phe)
c.5554A>T (p.Ile1852Phe)
c.8782A>T (p.Ile2928Phe)
8g.99835719T>ACA371784969VPS13Bc.9998T>A (p.Ile3333Asn)
n.10068T>A
c.*5680T>A (n.*5680T>A)
c.9923T>A (p.Ile3308Asn)
c.9995T>A (p.Ile3332Asn)
c.9920T>A (p.Ile3307Asn)
c.9620T>A (p.Ile3207Asn)
c.6884T>A (p.Ile2295Asn)
c.5777T>A (p.Ile1926Asn)
c.9803T>A (p.Ile3268Asn)
c.5555T>A (p.Ile1852Asn)
c.8783T>A (p.Ile2928Asn)
8g.99835719T>CCA371784970VPS13Bc.9998T>C (p.Ile3333Thr)
n.10068T>C
c.*5680T>C (n.*5680T>C)
c.9923T>C (p.Ile3308Thr)
c.9995T>C (p.Ile3332Thr)
c.9920T>C (p.Ile3307Thr)
c.9620T>C (p.Ile3207Thr)
c.6884T>C (p.Ile2295Thr)
c.5777T>C (p.Ile1926Thr)
c.9803T>C (p.Ile3268Thr)
c.5555T>C (p.Ile1852Thr)
c.8783T>C (p.Ile2928Thr)
8g.99835719T>GCA371784971VPS13Bc.9998T>G (p.Ile3333Ser)
n.10068T>G
c.*5680T>G (n.*5680T>G)
c.9923T>G (p.Ile3308Ser)
c.9995T>G (p.Ile3332Ser)
c.9920T>G (p.Ile3307Ser)
c.9620T>G (p.Ile3207Ser)
c.6884T>G (p.Ile2295Ser)
c.5777T>G (p.Ile1926Ser)
c.9803T>G (p.Ile3268Ser)
c.5555T>G (p.Ile1852Ser)
c.8783T>G (p.Ile2928Ser)
8g.99835720C>ACA462341056VPS13Bc.9999C>A (p.Ile3333=)
n.10069C>A
c.*5681C>A (n.*5681C>A)
c.9924C>A (p.Ile3308=)
c.9996C>A (p.Ile3332=)
c.9921C>A (p.Ile3307=)
c.9621C>A (p.Ile3207=)
c.6885C>A (p.Ile2295=)
c.5778C>A (p.Ile1926=)
c.9804C>A (p.Ile3268=)
c.5556C>A (p.Ile1852=)
c.8784C>A (p.Ile2928=)
8g.99835720C>GCA371784973VPS13Bc.9999C>G (p.Ile3333Met)
n.10069C>G
c.*5681C>G (n.*5681C>G)
c.9924C>G (p.Ile3308Met)
c.9996C>G (p.Ile3332Met)
c.9921C>G (p.Ile3307Met)
c.9621C>G (p.Ile3207Met)
c.6885C>G (p.Ile2295Met)
c.5778C>G (p.Ile1926Met)
c.9804C>G (p.Ile3268Met)
c.5556C>G (p.Ile1852Met)
c.8784C>G (p.Ile2928Met)
8g.99835720C>TCA462341058VPS13Bc.9999C>T (p.Ile3333=)
n.10069C>T
c.*5681C>T (n.*5681C>T)
c.9924C>T (p.Ile3308=)
c.9996C>T (p.Ile3332=)
c.9921C>T (p.Ile3307=)
c.9621C>T (p.Ile3207=)
c.6885C>T (p.Ile2295=)
c.5778C>T (p.Ile1926=)
c.9804C>T (p.Ile3268=)
c.5556C>T (p.Ile1852=)
c.8784C>T (p.Ile2928=)
8g.99835721A>CCA371784986VPS13Bc.10000A>C (p.Asn3334His)
n.10070A>C
c.*5682A>C (n.*5682A>C)
c.9925A>C (p.Asn3309His)
c.9997A>C (p.Asn3333His)
c.9922A>C (p.Asn3308His)
c.9622A>C (p.Asn3208His)
c.6886A>C (p.Asn2296His)
c.5779A>C (p.Asn1927His)
c.9805A>C (p.Asn3269His)
c.5557A>C (p.Asn1853His)
c.8785A>C (p.Asn2929His)
8g.99835721A>GCA371784991VPS13Bc.10000A>G (p.Asn3334Asp)
n.10070A>G
c.*5682A>G (n.*5682A>G)
c.9925A>G (p.Asn3309Asp)
c.9997A>G (p.Asn3333Asp)
c.9922A>G (p.Asn3308Asp)
c.9622A>G (p.Asn3208Asp)
c.6886A>G (p.Asn2296Asp)
c.5779A>G (p.Asn1927Asp)
c.9805A>G (p.Asn3269Asp)
c.5557A>G (p.Asn1853Asp)
c.8785A>G (p.Asn2929Asp)
 gnomAD v4
8g.99835721A>TCA371784984VPS13Bc.10000A>T (p.Asn3334Tyr)
n.10070A>T
c.*5682A>T (n.*5682A>T)
c.9925A>T (p.Asn3309Tyr)
c.9997A>T (p.Asn3333Tyr)
c.9922A>T (p.Asn3308Tyr)
c.9622A>T (p.Asn3208Tyr)
c.6886A>T (p.Asn2296Tyr)
c.5779A>T (p.Asn1927Tyr)
c.9805A>T (p.Asn3269Tyr)
c.5557A>T (p.Asn1853Tyr)
c.8785A>T (p.Asn2929Tyr)
8g.99835722A>CCA371784993VPS13Bc.10001A>C (p.Asn3334Thr)
n.10071A>C
c.*5683A>C (n.*5683A>C)
c.9926A>C (p.Asn3309Thr)
c.9998A>C (p.Asn3333Thr)
c.9923A>C (p.Asn3308Thr)
c.9623A>C (p.Asn3208Thr)
c.6887A>C (p.Asn2296Thr)
c.5780A>C (p.Asn1927Thr)
c.9806A>C (p.Asn3269Thr)
c.5558A>C (p.Asn1853Thr)
c.8786A>C (p.Asn2929Thr)
8g.99835722A>GCA182339772VPS13Bc.10001A>G (p.Asn3334Ser)
n.10071A>G
c.*5683A>G (n.*5683A>G)
c.9926A>G (p.Asn3309Ser)
c.9998A>G (p.Asn3333Ser)
c.9923A>G (p.Asn3308Ser)
c.9623A>G (p.Asn3208Ser)
c.6887A>G (p.Asn2296Ser)
c.5780A>G (p.Asn1927Ser)
c.9806A>G (p.Asn3269Ser)
c.5558A>G (p.Asn1853Ser)
c.8786A>G (p.Asn2929Ser)
 dbSNP
8g.99835722A>TCA371784999VPS13Bc.10001A>T (p.Asn3334Ile)
n.10071A>T
c.*5683A>T (n.*5683A>T)
c.9926A>T (p.Asn3309Ile)
c.9998A>T (p.Asn3333Ile)
c.9923A>T (p.Asn3308Ile)
c.9623A>T (p.Asn3208Ile)
c.6887A>T (p.Asn2296Ile)
c.5780A>T (p.Asn1927Ile)
c.9806A>T (p.Asn3269Ile)
c.5558A>T (p.Asn1853Ile)
c.8786A>T (p.Asn2929Ile)
8g.99835723C>ACA371785003VPS13Bc.10002C>A (p.Asn3334Lys)
n.10072C>A
c.*5684C>A (n.*5684C>A)
c.9927C>A (p.Asn3309Lys)
c.9999C>A (p.Asn3333Lys)
c.9924C>A (p.Asn3308Lys)
c.9624C>A (p.Asn3208Lys)
c.6888C>A (p.Asn2296Lys)
c.5781C>A (p.Asn1927Lys)
c.9807C>A (p.Asn3269Lys)
c.5559C>A (p.Asn1853Lys)
c.8787C>A (p.Asn2929Lys)
8g.99835723C>GCA371785005VPS13Bc.10002C>G (p.Asn3334Lys)
n.10072C>G
c.*5684C>G (n.*5684C>G)
c.9927C>G (p.Asn3309Lys)
c.9999C>G (p.Asn3333Lys)
c.9924C>G (p.Asn3308Lys)
c.9624C>G (p.Asn3208Lys)
c.6888C>G (p.Asn2296Lys)
c.5781C>G (p.Asn1927Lys)
c.9807C>G (p.Asn3269Lys)
c.5559C>G (p.Asn1853Lys)
c.8787C>G (p.Asn2929Lys)
8g.99835723C>TCA462341065VPS13Bc.10002C>T (p.Asn3334=)
n.10072C>T
c.*5684C>T (n.*5684C>T)
c.9927C>T (p.Asn3309=)
c.9999C>T (p.Asn3333=)
c.9924C>T (p.Asn3308=)
c.9624C>T (p.Asn3208=)
c.6888C>T (p.Asn2296=)
c.5781C>T (p.Asn1927=)
c.9807C>T (p.Asn3269=)
c.5559C>T (p.Asn1853=)
c.8787C>T (p.Asn2929=)
 ClinVar
8g.99835724A>CCA371785006VPS13Bc.10003A>C (p.Ser3335Arg)
n.10073A>C
c.*5685A>C (n.*5685A>C)
c.9928A>C (p.Ser3310Arg)
c.10000A>C (p.Ser3334Arg)
c.9925A>C (p.Ser3309Arg)
c.9625A>C (p.Ser3209Arg)
c.6889A>C (p.Ser2297Arg)
c.5782A>C (p.Ser1928Arg)
c.9808A>C (p.Ser3270Arg)
c.5560A>C (p.Ser1854Arg)
c.8788A>C (p.Ser2930Arg)
8g.99835724A>GCA371785007VPS13Bc.10003A>G (p.Ser3335Gly)
n.10073A>G
c.*5685A>G (n.*5685A>G)
c.9928A>G (p.Ser3310Gly)
c.10000A>G (p.Ser3334Gly)
c.9925A>G (p.Ser3309Gly)
c.9625A>G (p.Ser3209Gly)
c.6889A>G (p.Ser2297Gly)
c.5782A>G (p.Ser1928Gly)
c.9808A>G (p.Ser3270Gly)
c.5560A>G (p.Ser1854Gly)
c.8788A>G (p.Ser2930Gly)
8g.99835724A>TCA371785008VPS13Bc.10003A>T (p.Ser3335Cys)
n.10073A>T
c.*5685A>T (n.*5685A>T)
c.9928A>T (p.Ser3310Cys)
c.10000A>T (p.Ser3334Cys)
c.9925A>T (p.Ser3309Cys)
c.9625A>T (p.Ser3209Cys)
c.6889A>T (p.Ser2297Cys)
c.5782A>T (p.Ser1928Cys)
c.9808A>T (p.Ser3270Cys)
c.5560A>T (p.Ser1854Cys)
c.8788A>T (p.Ser2930Cys)
8g.99835724_99835738delCA913128133VPS13Bc.10003_10017del (p.Ser3335_Gln3339del)
n.10073_10087del
c.*5685_*5699del (n.*5685_*5699del)
c.9928_9942del (p.Ser3310_Gln3314del)
c.10000_10014del (p.Ser3334_Gln3338del)
c.9925_9939del (p.Ser3309_Gln3313del)
c.9625_9639del (p.Ser3209_Gln3213del)
c.6889_6903del (p.Ser2297_Gln2301del)
c.5782_5796del (p.Ser1928_Gln1932del)
c.9808_9822del (p.Ser3270_Gln3274del)
c.5560_5574del (p.Ser1854_Gln1858del)
c.8788_8802del (p.Ser2930_Gln2934del)
8g.99835725G>ACA371785009VPS13Bc.10004G>A (p.Ser3335Asn)
n.10074G>A
c.*5686G>A (n.*5686G>A)
c.9929G>A (p.Ser3310Asn)
c.10001G>A (p.Ser3334Asn)
c.9926G>A (p.Ser3309Asn)
c.9626G>A (p.Ser3209Asn)
c.6890G>A (p.Ser2297Asn)
c.5783G>A (p.Ser1928Asn)
c.9809G>A (p.Ser3270Asn)
c.5561G>A (p.Ser1854Asn)
c.8789G>A (p.Ser2930Asn)
 gnomAD v4
8g.99835725G>CCA371785010VPS13Bc.10004G>C (p.Ser3335Thr)
n.10074G>C
c.*5686G>C (n.*5686G>C)
c.9929G>C (p.Ser3310Thr)
c.10001G>C (p.Ser3334Thr)
c.9926G>C (p.Ser3309Thr)
c.9626G>C (p.Ser3209Thr)
c.6890G>C (p.Ser2297Thr)
c.5783G>C (p.Ser1928Thr)
c.9809G>C (p.Ser3270Thr)
c.5561G>C (p.Ser1854Thr)
c.8789G>C (p.Ser2930Thr)
 gnomAD v4
8g.99835725G>TCA371785012VPS13Bc.10004G>T (p.Ser3335Ile)
n.10074G>T
c.*5686G>T (n.*5686G>T)
c.9929G>T (p.Ser3310Ile)
c.10001G>T (p.Ser3334Ile)
c.9926G>T (p.Ser3309Ile)
c.9626G>T (p.Ser3209Ile)
c.6890G>T (p.Ser2297Ile)
c.5783G>T (p.Ser1928Ile)
c.9809G>T (p.Ser3270Ile)
c.5561G>T (p.Ser1854Ile)
c.8789G>T (p.Ser2930Ile)
8g.99835730_99835743delCA658823168VPS13Bc.10009_10017+5del
n.10079_10087+5del
c.*5691_*5699+5del
c.9934_9942+5del
c.10006_10014+5del
c.9931_9939+5del
c.9631_9639+5del
c.6895_6903+5del
c.5788_5796+5del
c.9814_9822+5del
c.5566_5574+5del
c.8794_8802+5del
 ClinVar dbSNP gnomAD v4
8g.99835726T>ACA371785014VPS13Bc.10005T>A (p.Ser3335Arg)
n.10075T>A
c.*5687T>A (n.*5687T>A)
c.9930T>A (p.Ser3310Arg)
c.10002T>A (p.Ser3334Arg)
c.9927T>A (p.Ser3309Arg)
c.9627T>A (p.Ser3209Arg)
c.6891T>A (p.Ser2297Arg)
c.5784T>A (p.Ser1928Arg)
c.9810T>A (p.Ser3270Arg)
c.5562T>A (p.Ser1854Arg)
c.8790T>A (p.Ser2930Arg)
8g.99835726T>CCA462341071VPS13Bc.10005T>C (p.Ser3335=)
n.10075T>C
c.*5687T>C (n.*5687T>C)
c.9930T>C (p.Ser3310=)
c.10002T>C (p.Ser3334=)
c.9927T>C (p.Ser3309=)
c.9627T>C (p.Ser3209=)
c.6891T>C (p.Ser2297=)
c.5784T>C (p.Ser1928=)
c.9810T>C (p.Ser3270=)
c.5562T>C (p.Ser1854=)
c.8790T>C (p.Ser2930=)
 gnomAD v4
8g.99835726T>GCA371785017VPS13Bc.10005T>G (p.Ser3335Arg)
n.10075T>G
c.*5687T>G (n.*5687T>G)
c.9930T>G (p.Ser3310Arg)
c.10002T>G (p.Ser3334Arg)
c.9927T>G (p.Ser3309Arg)
c.9627T>G (p.Ser3209Arg)
c.6891T>G (p.Ser2297Arg)
c.5784T>G (p.Ser1928Arg)
c.9810T>G (p.Ser3270Arg)
c.5562T>G (p.Ser1854Arg)
c.8790T>G (p.Ser2930Arg)
8g.99835727C>ACA371785026VPS13Bc.10006C>A (p.Gln3336Lys)
n.10076C>A
c.*5688C>A (n.*5688C>A)
c.9931C>A (p.Gln3311Lys)
c.10003C>A (p.Gln3335Lys)
c.9928C>A (p.Gln3310Lys)
c.9628C>A (p.Gln3210Lys)
c.6892C>A (p.Gln2298Lys)
c.5785C>A (p.Gln1929Lys)
c.9811C>A (p.Gln3271Lys)
c.5563C>A (p.Gln1855Lys)
c.8791C>A (p.Gln2931Lys)
8g.99835727C>GCA371785024VPS13Bc.10006C>G (p.Gln3336Glu)
n.10076C>G
c.*5688C>G (n.*5688C>G)
c.9931C>G (p.Gln3311Glu)
c.10003C>G (p.Gln3335Glu)
c.9928C>G (p.Gln3310Glu)
c.9628C>G (p.Gln3210Glu)
c.6892C>G (p.Gln2298Glu)
c.5785C>G (p.Gln1929Glu)
c.9811C>G (p.Gln3271Glu)
c.5563C>G (p.Gln1855Glu)
c.8791C>G (p.Gln2931Glu)
8g.99835727C>TCA371785022VPS13Bc.10006C>T (p.Gln3336Ter)
n.10076C>T
c.*5688C>T (n.*5688C>T)
c.9931C>T (p.Gln3311Ter)
c.10003C>T (p.Gln3335Ter)
c.9928C>T (p.Gln3310Ter)
c.9628C>T (p.Gln3210Ter)
c.6892C>T (p.Gln2298Ter)
c.5785C>T (p.Gln1929Ter)
c.9811C>T (p.Gln3271Ter)
c.5563C>T (p.Gln1855Ter)
c.8791C>T (p.Gln2931Ter)
8g.99835728A>CCA371785029VPS13Bc.10007A>C (p.Gln3336Pro)
n.10077A>C
c.*5689A>C (n.*5689A>C)
c.9932A>C (p.Gln3311Pro)
c.10004A>C (p.Gln3335Pro)
c.9929A>C (p.Gln3310Pro)
c.9629A>C (p.Gln3210Pro)
c.6893A>C (p.Gln2298Pro)
c.5786A>C (p.Gln1929Pro)
c.9812A>C (p.Gln3271Pro)
c.5564A>C (p.Gln1855Pro)
c.8792A>C (p.Gln2931Pro)
8g.99835728A>GCA371785031VPS13Bc.10007A>G (p.Gln3336Arg)
n.10077A>G
c.*5689A>G (n.*5689A>G)
c.9932A>G (p.Gln3311Arg)
c.10004A>G (p.Gln3335Arg)
c.9929A>G (p.Gln3310Arg)
c.9629A>G (p.Gln3210Arg)
c.6893A>G (p.Gln2298Arg)
c.5786A>G (p.Gln1929Arg)
c.9812A>G (p.Gln3271Arg)
c.5564A>G (p.Gln1855Arg)
c.8792A>G (p.Gln2931Arg)
8g.99835728A>TCA371785033VPS13Bc.10007A>T (p.Gln3336Leu)
n.10077A>T
c.*5689A>T (n.*5689A>T)
c.9932A>T (p.Gln3311Leu)
c.10004A>T (p.Gln3335Leu)
c.9929A>T (p.Gln3310Leu)
c.9629A>T (p.Gln3210Leu)
c.6893A>T (p.Gln2298Leu)
c.5786A>T (p.Gln1929Leu)
c.9812A>T (p.Gln3271Leu)
c.5564A>T (p.Gln1855Leu)
c.8792A>T (p.Gln2931Leu)
8g.99835729G>ACA462341078VPS13Bc.10008G>A (p.Gln3336=)
n.10078G>A
c.*5690G>A (n.*5690G>A)
c.9933G>A (p.Gln3311=)
c.10005G>A (p.Gln3335=)
c.9930G>A (p.Gln3310=)
c.9630G>A (p.Gln3210=)
c.6894G>A (p.Gln2298=)
c.5787G>A (p.Gln1929=)
c.9813G>A (p.Gln3271=)
c.5565G>A (p.Gln1855=)
c.8793G>A (p.Gln2931=)
 ClinVar dbSNP
8g.99835729G>CCA371785034VPS13Bc.10008G>C (p.Gln3336His)
n.10078G>C
c.*5690G>C (n.*5690G>C)
c.9933G>C (p.Gln3311His)
c.10005G>C (p.Gln3335His)
c.9930G>C (p.Gln3310His)
c.9630G>C (p.Gln3210His)
c.6894G>C (p.Gln2298His)
c.5787G>C (p.Gln1929His)
c.9813G>C (p.Gln3271His)
c.5565G>C (p.Gln1855His)
c.8793G>C (p.Gln2931His)
8g.99835729G>TCA371785035VPS13Bc.10008G>T (p.Gln3336His)
n.10078G>T
c.*5690G>T (n.*5690G>T)
c.9933G>T (p.Gln3311His)
c.10005G>T (p.Gln3335His)
c.9930G>T (p.Gln3310His)
c.9630G>T (p.Gln3210His)
c.6894G>T (p.Gln2298His)
c.5787G>T (p.Gln1929His)
c.9813G>T (p.Gln3271His)
c.5565G>T (p.Gln1855His)
c.8793G>T (p.Gln2931His)
8g.99835730G>ACA371785036VPS13Bc.10009G>A (p.Gly3337Arg)
n.10079G>A
c.*5691G>A (n.*5691G>A)
c.9934G>A (p.Gly3312Arg)
c.10006G>A (p.Gly3336Arg)
c.9931G>A (p.Gly3311Arg)
c.9631G>A (p.Gly3211Arg)
c.6895G>A (p.Gly2299Arg)
c.5788G>A (p.Gly1930Arg)
c.9814G>A (p.Gly3272Arg)
c.5566G>A (p.Gly1856Arg)
c.8794G>A (p.Gly2932Arg)
 dbSNP
8g.99835730G>CCA371785039VPS13Bc.10009G>C (p.Gly3337Arg)
n.10079G>C
c.*5691G>C (n.*5691G>C)
c.9934G>C (p.Gly3312Arg)
c.10006G>C (p.Gly3336Arg)
c.9931G>C (p.Gly3311Arg)
c.9631G>C (p.Gly3211Arg)
c.6895G>C (p.Gly2299Arg)
c.5788G>C (p.Gly1930Arg)
c.9814G>C (p.Gly3272Arg)
c.5566G>C (p.Gly1856Arg)
c.8794G>C (p.Gly2932Arg)
8g.99835730G>TCA371785043VPS13Bc.10009G>T (p.Gly3337Ter)
n.10079G>T
c.*5691G>T (n.*5691G>T)
c.9934G>T (p.Gly3312Ter)
c.10006G>T (p.Gly3336Ter)
c.9931G>T (p.Gly3311Ter)
c.9631G>T (p.Gly3211Ter)
c.6895G>T (p.Gly2299Ter)
c.5788G>T (p.Gly1930Ter)
c.9814G>T (p.Gly3272Ter)
c.5566G>T (p.Gly1856Ter)
c.8794G>T (p.Gly2932Ter)
8g.99835731G>ACA4824823VPS13Bc.10010G>A (p.Gly3337Glu)
n.10080G>A
c.*5692G>A (n.*5692G>A)
c.9935G>A (p.Gly3312Glu)
c.10007G>A (p.Gly3336Glu)
c.9932G>A (p.Gly3311Glu)
c.9632G>A (p.Gly3211Glu)
c.6896G>A (p.Gly2299Glu)
c.5789G>A (p.Gly1930Glu)
c.9815G>A (p.Gly3272Glu)
c.5567G>A (p.Gly1856Glu)
c.8795G>A (p.Gly2932Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835731G>CCA371785050VPS13Bc.10010G>C (p.Gly3337Ala)
n.10080G>C
c.*5692G>C (n.*5692G>C)
c.9935G>C (p.Gly3312Ala)
c.10007G>C (p.Gly3336Ala)
c.9932G>C (p.Gly3311Ala)
c.9632G>C (p.Gly3211Ala)
c.6896G>C (p.Gly2299Ala)
c.5789G>C (p.Gly1930Ala)
c.9815G>C (p.Gly3272Ala)
c.5567G>C (p.Gly1856Ala)
c.8795G>C (p.Gly2932Ala)
8g.99835731G>TCA371785073VPS13Bc.10010G>T (p.Gly3337Val)
n.10080G>T
c.*5692G>T (n.*5692G>T)
c.9935G>T (p.Gly3312Val)
c.10007G>T (p.Gly3336Val)
c.9932G>T (p.Gly3311Val)
c.9632G>T (p.Gly3211Val)
c.6896G>T (p.Gly2299Val)
c.5789G>T (p.Gly1930Val)
c.9815G>T (p.Gly3272Val)
c.5567G>T (p.Gly1856Val)
c.8795G>T (p.Gly2932Val)
8g.99835731_99835732delCA2781479887VPS13Bc.10010_10011del (p.Gly3337AspfsTer?)
n.10080_10081del
c.*5692_*5693del (n.*5692_*5693del)
c.9935_9936del (p.Gly3312AspfsTer?)
c.10007_10008del (p.Gly3336AspfsTer?)
c.9932_9933del (p.Gly3311AspfsTer?)
c.9632_9633del (p.Gly3211AspfsTer?)
c.6896_6897del (p.Gly2299AspfsTer?)
c.5789_5790del (p.Gly1930AspfsTer?)
c.9815_9816del (p.Gly3272AspfsTer?)
c.5567_5568del (p.Gly1856AspfsTer?)
c.8795_8796del (p.Gly2932AspfsTer?)
8g.99835732A>CCA462341084VPS13Bc.10011A>C (p.Gly3337=)
n.10081A>C
c.*5693A>C (n.*5693A>C)
c.9936A>C (p.Gly3312=)
c.10008A>C (p.Gly3336=)
c.9933A>C (p.Gly3311=)
c.9633A>C (p.Gly3211=)
c.6897A>C (p.Gly2299=)
c.5790A>C (p.Gly1930=)
c.9816A>C (p.Gly3272=)
c.5568A>C (p.Gly1856=)
c.8796A>C (p.Gly2932=)
8g.99835732A>GCA462341085VPS13Bc.10011A>G (p.Gly3337=)
n.10081A>G
c.*5693A>G (n.*5693A>G)
c.9936A>G (p.Gly3312=)
c.10008A>G (p.Gly3336=)
c.9933A>G (p.Gly3311=)
c.9633A>G (p.Gly3211=)
c.6897A>G (p.Gly2299=)
c.5790A>G (p.Gly1930=)
c.9816A>G (p.Gly3272=)
c.5568A>G (p.Gly1856=)
c.8796A>G (p.Gly2932=)
8g.99835732A>TCA462341087VPS13Bc.10011A>T (p.Gly3337=)
n.10081A>T
c.*5693A>T (n.*5693A>T)
c.9936A>T (p.Gly3312=)
c.10008A>T (p.Gly3336=)
c.9933A>T (p.Gly3311=)
c.9633A>T (p.Gly3211=)
c.6897A>T (p.Gly2299=)
c.5790A>T (p.Gly1930=)
c.9816A>T (p.Gly3272=)
c.5568A>T (p.Gly1856=)
c.8796A>T (p.Gly2932=)
8g.99835733A>CCA371785075VPS13Bc.10012A>C (p.Thr3338Pro)
n.10082A>C
c.*5694A>C (n.*5694A>C)
c.9937A>C (p.Thr3313Pro)
c.10009A>C (p.Thr3337Pro)
c.9934A>C (p.Thr3312Pro)
c.9634A>C (p.Thr3212Pro)
c.6898A>C (p.Thr2300Pro)
c.5791A>C (p.Thr1931Pro)
c.9817A>C (p.Thr3273Pro)
c.5569A>C (p.Thr1857Pro)
c.8797A>C (p.Thr2933Pro)
8g.99835733A>GCA371785079VPS13Bc.10012A>G (p.Thr3338Ala)
n.10082A>G
c.*5694A>G (n.*5694A>G)
c.9937A>G (p.Thr3313Ala)
c.10009A>G (p.Thr3337Ala)
c.9934A>G (p.Thr3312Ala)
c.9634A>G (p.Thr3212Ala)
c.6898A>G (p.Thr2300Ala)
c.5791A>G (p.Thr1931Ala)
c.9817A>G (p.Thr3273Ala)
c.5569A>G (p.Thr1857Ala)
c.8797A>G (p.Thr2933Ala)
8g.99835733A>TCA371785081VPS13Bc.10012A>T (p.Thr3338Ser)
n.10082A>T
c.*5694A>T (n.*5694A>T)
c.9937A>T (p.Thr3313Ser)
c.10009A>T (p.Thr3337Ser)
c.9934A>T (p.Thr3312Ser)
c.9634A>T (p.Thr3212Ser)
c.6898A>T (p.Thr2300Ser)
c.5791A>T (p.Thr1931Ser)
c.9817A>T (p.Thr3273Ser)
c.5569A>T (p.Thr1857Ser)
c.8797A>T (p.Thr2933Ser)
 gnomAD v4
8g.99835734C>ACA371785092VPS13Bc.10013C>A (p.Thr3338Lys)
n.10083C>A
c.*5695C>A (n.*5695C>A)
c.9938C>A (p.Thr3313Lys)
c.10010C>A (p.Thr3337Lys)
c.9935C>A (p.Thr3312Lys)
c.9635C>A (p.Thr3212Lys)
c.6899C>A (p.Thr2300Lys)
c.5792C>A (p.Thr1931Lys)
c.9818C>A (p.Thr3273Lys)
c.5570C>A (p.Thr1857Lys)
c.8798C>A (p.Thr2933Lys)
8g.99835734C>GCA371785093VPS13Bc.10013C>G (p.Thr3338Arg)
n.10083C>G
c.*5695C>G (n.*5695C>G)
c.9938C>G (p.Thr3313Arg)
c.10010C>G (p.Thr3337Arg)
c.9935C>G (p.Thr3312Arg)
c.9635C>G (p.Thr3212Arg)
c.6899C>G (p.Thr2300Arg)
c.5792C>G (p.Thr1931Arg)
c.9818C>G (p.Thr3273Arg)
c.5570C>G (p.Thr1857Arg)
c.8798C>G (p.Thr2933Arg)
8g.99835734C>TCA371785087VPS13Bc.10013C>T (p.Thr3338Ile)
n.10083C>T
c.*5695C>T (n.*5695C>T)
c.9938C>T (p.Thr3313Ile)
c.10010C>T (p.Thr3337Ile)
c.9935C>T (p.Thr3312Ile)
c.9635C>T (p.Thr3212Ile)
c.6899C>T (p.Thr2300Ile)
c.5792C>T (p.Thr1931Ile)
c.9818C>T (p.Thr3273Ile)
c.5570C>T (p.Thr1857Ile)
c.8798C>T (p.Thr2933Ile)
8g.99835734dupCA2697550078VPS13Bc.10013dup (p.Gln3339ThrfsTer?)
n.10083dup
c.*5695dup (n.*5695dup)
c.9938dup (p.Gln3314ThrfsTer?)
c.10010dup (p.Gln3338ThrfsTer?)
c.9935dup (p.Gln3313ThrfsTer?)
c.9635dup (p.Gln3213ThrfsTer?)
c.6899dup (p.Gln2301ThrfsTer?)
c.5792dup (p.Gln1932ThrfsTer?)
c.9818dup (p.Gln3274ThrfsTer?)
c.5570dup (p.Gln1858ThrfsTer?)
c.8798dup (p.Gln2934ThrfsTer?)
 ClinVar
8g.99835735A>CCA462341094VPS13Bc.10014A>C (p.Thr3338=)
n.10084A>C
c.*5696A>C (n.*5696A>C)
c.9939A>C (p.Thr3313=)
c.10011A>C (p.Thr3337=)
c.9936A>C (p.Thr3312=)
c.9636A>C (p.Thr3212=)
c.6900A>C (p.Thr2300=)
c.5793A>C (p.Thr1931=)
c.9819A>C (p.Thr3273=)
c.5571A>C (p.Thr1857=)
c.8799A>C (p.Thr2933=)
8g.99835735A>GCA462341093VPS13Bc.10014A>G (p.Thr3338=)
n.10084A>G
c.*5696A>G (n.*5696A>G)
c.9939A>G (p.Thr3313=)
c.10011A>G (p.Thr3337=)
c.9936A>G (p.Thr3312=)
c.9636A>G (p.Thr3212=)
c.6900A>G (p.Thr2300=)
c.5793A>G (p.Thr1931=)
c.9819A>G (p.Thr3273=)
c.5571A>G (p.Thr1857=)
c.8799A>G (p.Thr2933=)
8g.99835735A>TCA462341095VPS13Bc.10014A>T (p.Thr3338=)
n.10084A>T
c.*5696A>T (n.*5696A>T)
c.9939A>T (p.Thr3313=)
c.10011A>T (p.Thr3337=)
c.9936A>T (p.Thr3312=)
c.9636A>T (p.Thr3212=)
c.6900A>T (p.Thr2300=)
c.5793A>T (p.Thr1931=)
c.9819A>T (p.Thr3273=)
c.5571A>T (p.Thr1857=)
c.8799A>T (p.Thr2933=)
8g.99835736C>ACA371785095VPS13Bc.10015C>A (p.Gln3339Lys)
n.10085C>A
c.*5697C>A (n.*5697C>A)
c.9940C>A (p.Gln3314Lys)
c.10012C>A (p.Gln3338Lys)
c.9937C>A (p.Gln3313Lys)
c.9637C>A (p.Gln3213Lys)
c.6901C>A (p.Gln2301Lys)
c.5794C>A (p.Gln1932Lys)
c.9820C>A (p.Gln3274Lys)
c.5572C>A (p.Gln1858Lys)
c.8800C>A (p.Gln2934Lys)
8g.99835736C>GCA371785096VPS13Bc.10015C>G (p.Gln3339Glu)
n.10085C>G
c.*5697C>G (n.*5697C>G)
c.9940C>G (p.Gln3314Glu)
c.10012C>G (p.Gln3338Glu)
c.9937C>G (p.Gln3313Glu)
c.9637C>G (p.Gln3213Glu)
c.6901C>G (p.Gln2301Glu)
c.5794C>G (p.Gln1932Glu)
c.9820C>G (p.Gln3274Glu)
c.5572C>G (p.Gln1858Glu)
c.8800C>G (p.Gln2934Glu)
8g.99835736C>TCA371785097VPS13Bc.10015C>T (p.Gln3339Ter)
n.10085C>T
c.*5697C>T (n.*5697C>T)
c.9940C>T (p.Gln3314Ter)
c.10012C>T (p.Gln3338Ter)
c.9937C>T (p.Gln3313Ter)
c.9637C>T (p.Gln3213Ter)
c.6901C>T (p.Gln2301Ter)
c.5794C>T (p.Gln1932Ter)
c.9820C>T (p.Gln3274Ter)
c.5572C>T (p.Gln1858Ter)
c.8800C>T (p.Gln2934Ter)
8g.99835736_99835737insTTTCA583884777VPS13Bc.10015_10016insTTT (p.Gln3339LeufsTer2)
n.10085_10086insTTT
c.*5697_*5698insTTT (n.*5697_*5698insTTT)
c.9940_9941insTTT (p.Gln3314LeufsTer2)
c.10012_10013insTTT (p.Gln3338LeufsTer2)
c.9937_9938insTTT (p.Gln3313LeufsTer2)
c.9637_9638insTTT (p.Gln3213LeufsTer2)
c.6901_6902insTTT (p.Gln2301LeufsTer2)
c.5794_5795insTTT (p.Gln1932LeufsTer2)
c.9820_9821insTTT (p.Gln3274LeufsTer2)
c.5572_5573insTTT (p.Gln1858LeufsTer2)
c.8800_8801insTTT (p.Gln2934LeufsTer2)
 ClinVar dbSNP gnomAD v2
8g.99835737A>CCA371785098VPS13Bc.10016A>C (p.Gln3339Pro)
n.10086A>C
c.*5698A>C (n.*5698A>C)
c.9941A>C (p.Gln3314Pro)
c.10013A>C (p.Gln3338Pro)
c.9938A>C (p.Gln3313Pro)
c.9638A>C (p.Gln3213Pro)
c.6902A>C (p.Gln2301Pro)
c.5795A>C (p.Gln1932Pro)
c.9821A>C (p.Gln3274Pro)
c.5573A>C (p.Gln1858Pro)
c.8801A>C (p.Gln2934Pro)
 gnomAD v4
8g.99835737A>GCA4824824VPS13Bc.10016A>G (p.Gln3339Arg)
n.10086A>G
c.*5698A>G (n.*5698A>G)
c.9941A>G (p.Gln3314Arg)
c.10013A>G (p.Gln3338Arg)
c.9938A>G (p.Gln3313Arg)
c.9638A>G (p.Gln3213Arg)
c.6902A>G (p.Gln2301Arg)
c.5795A>G (p.Gln1932Arg)
c.9821A>G (p.Gln3274Arg)
c.5573A>G (p.Gln1858Arg)
c.8801A>G (p.Gln2934Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835737A>TCA371785104VPS13Bc.10016A>T (p.Gln3339Leu)
n.10086A>T
c.*5698A>T (n.*5698A>T)
c.9941A>T (p.Gln3314Leu)
c.10013A>T (p.Gln3338Leu)
c.9938A>T (p.Gln3313Leu)
c.9638A>T (p.Gln3213Leu)
c.6902A>T (p.Gln2301Leu)
c.5795A>T (p.Gln1932Leu)
c.9821A>T (p.Gln3274Leu)
c.5573A>T (p.Gln1858Leu)
c.8801A>T (p.Gln2934Leu)
8g.99835738G>ACA462341101VPS13Bc.10017G>A (p.Gln3339=)
n.10087G>A
c.*5699G>A (n.*5699G>A)
c.9942G>A (p.Gln3314=)
c.10014G>A (p.Gln3338=)
c.9939G>A (p.Gln3313=)
c.9639G>A (p.Gln3213=)
c.6903G>A (p.Gln2301=)
c.5796G>A (p.Gln1932=)
c.9822G>A (p.Gln3274=)
c.5574G>A (p.Gln1858=)
c.8802G>A (p.Gln2934=)
 gnomAD v4
8g.99835738G>CCA371785105VPS13Bc.10017G>C (p.Gln3339His)
n.10087G>C
c.*5699G>C (n.*5699G>C)
c.9942G>C (p.Gln3314His)
c.10014G>C (p.Gln3338His)
c.9939G>C (p.Gln3313His)
c.9639G>C (p.Gln3213His)
c.6903G>C (p.Gln2301His)
c.5796G>C (p.Gln1932His)
c.9822G>C (p.Gln3274His)
c.5574G>C (p.Gln1858His)
c.8802G>C (p.Gln2934His)
 gnomAD v4
8g.99835738G>TCA371785107VPS13Bc.10017G>T (p.Gln3339His)
n.10087G>T
c.*5699G>T (n.*5699G>T)
c.9942G>T (p.Gln3314His)
c.10014G>T (p.Gln3338His)
c.9939G>T (p.Gln3313His)
c.9639G>T (p.Gln3213His)
c.6903G>T (p.Gln2301His)
c.5796G>T (p.Gln1932His)
c.9822G>T (p.Gln3274His)
c.5574G>T (p.Gln1858His)
c.8802G>T (p.Gln2934His)
 dbSNP
8g.99835739G>ACA16041268VPS13Bc.10017+1G>A (n.10017+1G>A)
n.10087+1G>A
c.*5699+1G>A (n.*5699+1G>A)
c.9942+1G>A (n.9942+1G>A)
c.10014+1G>A (n.10014+1G>A)
c.9939+1G>A (n.9939+1G>A)
c.9639+1G>A (n.9639+1G>A)
c.6903+1G>A (n.6903+1G>A)
c.5796+1G>A (n.5796+1G>A)
c.9822+1G>A (n.9822+1G>A)
c.5574+1G>A (n.5574+1G>A)
c.8802+1G>A (n.8802+1G>A)
 ClinVar dbSNP gnomAD v4
8g.99835739G>CCA371785111VPS13Bc.10017+1G>C (n.10017+1G>C)
n.10087+1G>C
c.*5699+1G>C (n.*5699+1G>C)
c.9942+1G>C (n.9942+1G>C)
c.10014+1G>C (n.10014+1G>C)
c.9939+1G>C (n.9939+1G>C)
c.9639+1G>C (n.9639+1G>C)
c.6903+1G>C (n.6903+1G>C)
c.5796+1G>C (n.5796+1G>C)
c.9822+1G>C (n.9822+1G>C)
c.5574+1G>C (n.5574+1G>C)
c.8802+1G>C (n.8802+1G>C)
8g.99835739G>TCA371785115VPS13Bc.10017+1G>T (n.10017+1G>T)
n.10087+1G>T
c.*5699+1G>T (n.*5699+1G>T)
c.9942+1G>T (n.9942+1G>T)
c.10014+1G>T (n.10014+1G>T)
c.9939+1G>T (n.9939+1G>T)
c.9639+1G>T (n.9639+1G>T)
c.6903+1G>T (n.6903+1G>T)
c.5796+1G>T (n.5796+1G>T)
c.9822+1G>T (n.9822+1G>T)
c.5574+1G>T (n.5574+1G>T)
c.8802+1G>T (n.8802+1G>T)
 ClinVar dbSNP
8g.99835740T>ACA371785118VPS13Bc.10017+2T>A (n.10017+2T>A)
n.10087+2T>A
c.*5699+2T>A (n.*5699+2T>A)
c.9942+2T>A (n.9942+2T>A)
c.10014+2T>A (n.10014+2T>A)
c.9939+2T>A (n.9939+2T>A)
c.9639+2T>A (n.9639+2T>A)
c.6903+2T>A (n.6903+2T>A)
c.5796+2T>A (n.5796+2T>A)
c.9822+2T>A (n.9822+2T>A)
c.5574+2T>A (n.5574+2T>A)
c.8802+2T>A (n.8802+2T>A)
8g.99835740T>CCA371785131VPS13Bc.10017+2T>C (n.10017+2T>C)
n.10087+2T>C
c.*5699+2T>C (n.*5699+2T>C)
c.9942+2T>C (n.9942+2T>C)
c.10014+2T>C (n.10014+2T>C)
c.9939+2T>C (n.9939+2T>C)
c.9639+2T>C (n.9639+2T>C)
c.6903+2T>C (n.6903+2T>C)
c.5796+2T>C (n.5796+2T>C)
c.9822+2T>C (n.9822+2T>C)
c.5574+2T>C (n.5574+2T>C)
c.8802+2T>C (n.8802+2T>C)
8g.99835740T>GCA371785133VPS13Bc.10017+2T>G (n.10017+2T>G)
n.10087+2T>G
c.*5699+2T>G (n.*5699+2T>G)
c.9942+2T>G (n.9942+2T>G)
c.10014+2T>G (n.10014+2T>G)
c.9939+2T>G (n.9939+2T>G)
c.9639+2T>G (n.9639+2T>G)
c.6903+2T>G (n.6903+2T>G)
c.5796+2T>G (n.5796+2T>G)
c.9822+2T>G (n.9822+2T>G)
c.5574+2T>G (n.5574+2T>G)
c.8802+2T>G (n.8802+2T>G)
8g.99835741C>GCA583884778VPS13Bc.10017+3C>G (n.10017+3C>G)
n.10087+3C>G
c.*5699+3C>G (n.*5699+3C>G)
c.9942+3C>G (n.9942+3C>G)
c.10014+3C>G (n.10014+3C>G)
c.9939+3C>G (n.9939+3C>G)
c.9639+3C>G (n.9639+3C>G)
c.6903+3C>G (n.6903+3C>G)
c.5796+3C>G (n.5796+3C>G)
c.9822+3C>G (n.9822+3C>G)
c.5574+3C>G (n.5574+3C>G)
c.8802+3C>G (n.8802+3C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.99835742A>CCA2580079320VPS13Bc.10017+4A>C (n.10017+4A>C)
n.10087+4A>C
c.*5699+4A>C (n.*5699+4A>C)
c.9942+4A>C (n.9942+4A>C)
c.10014+4A>C (n.10014+4A>C)
c.9939+4A>C (n.9939+4A>C)
c.9639+4A>C (n.9639+4A>C)
c.6903+4A>C (n.6903+4A>C)
c.5796+4A>C (n.5796+4A>C)
c.9822+4A>C (n.9822+4A>C)
c.5574+4A>C (n.5574+4A>C)
c.8802+4A>C (n.8802+4A>C)
 ClinVar gnomAD v4
8g.99835742A>GCA4824825VPS13Bc.10017+4A>G (n.10017+4A>G)
n.10087+4A>G
c.*5699+4A>G (n.*5699+4A>G)
c.9942+4A>G (n.9942+4A>G)
c.10014+4A>G (n.10014+4A>G)
c.9939+4A>G (n.9939+4A>G)
c.9639+4A>G (n.9639+4A>G)
c.6903+4A>G (n.6903+4A>G)
c.5796+4A>G (n.5796+4A>G)
c.9822+4A>G (n.9822+4A>G)
c.5574+4A>G (n.5574+4A>G)
c.8802+4A>G (n.8802+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835743G>ACA2579210822VPS13Bc.10017+5G>A (n.10017+5G>A)
n.10087+5G>A
c.*5699+5G>A (n.*5699+5G>A)
c.9942+5G>A (n.9942+5G>A)
c.10014+5G>A (n.10014+5G>A)
c.9939+5G>A (n.9939+5G>A)
c.9639+5G>A (n.9639+5G>A)
c.6903+5G>A (n.6903+5G>A)
c.5796+5G>A (n.5796+5G>A)
c.9822+5G>A (n.9822+5G>A)
c.5574+5G>A (n.5574+5G>A)
c.8802+5G>A (n.8802+5G>A)
 gnomAD v4
8g.99835743G>CCA2688071174VPS13Bc.10017+5G>C (n.10017+5G>C)
n.10087+5G>C
c.*5699+5G>C (n.*5699+5G>C)
c.9942+5G>C (n.9942+5G>C)
c.10014+5G>C (n.10014+5G>C)
c.9939+5G>C (n.9939+5G>C)
c.9639+5G>C (n.9639+5G>C)
c.6903+5G>C (n.6903+5G>C)
c.5796+5G>C (n.5796+5G>C)
c.9822+5G>C (n.9822+5G>C)
c.5574+5G>C (n.5574+5G>C)
c.8802+5G>C (n.8802+5G>C)
 gnomAD v4
8g.99835745G>ACA2717732126VPS13Bc.10017+7G>A (n.10017+7G>A)
n.10087+7G>A
c.*5699+7G>A (n.*5699+7G>A)
c.9942+7G>A (n.9942+7G>A)
c.10014+7G>A (n.10014+7G>A)
c.9939+7G>A (n.9939+7G>A)
c.9639+7G>A (n.9639+7G>A)
c.6903+7G>A (n.6903+7G>A)
c.5796+7G>A (n.5796+7G>A)
c.9822+7G>A (n.9822+7G>A)
c.5574+7G>A (n.5574+7G>A)
c.8802+7G>A (n.8802+7G>A)
 ClinVar dbSNP
8g.99835745G>CCA4824826VPS13Bc.10017+7G>C (n.10017+7G>C)
n.10087+7G>C
c.*5699+7G>C (n.*5699+7G>C)
c.9942+7G>C (n.9942+7G>C)
c.10014+7G>C (n.10014+7G>C)
c.9939+7G>C (n.9939+7G>C)
c.9639+7G>C (n.9639+7G>C)
c.6903+7G>C (n.6903+7G>C)
c.5796+7G>C (n.5796+7G>C)
c.9822+7G>C (n.9822+7G>C)
c.5574+7G>C (n.5574+7G>C)
c.8802+7G>C (n.8802+7G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835746dupCA2781479889VPS13Bc.10017+8dup (n.10017+8dup)
n.10087+8dup
c.*5699+8dup (n.*5699+8dup)
c.9942+8dup (n.9942+8dup)
c.10014+8dup (n.10014+8dup)
c.9939+8dup (n.9939+8dup)
c.9639+8dup (n.9639+8dup)
c.6903+8dup (n.6903+8dup)
c.5796+8dup (n.5796+8dup)
c.9822+8dup (n.9822+8dup)
c.5574+8dup (n.5574+8dup)
c.8802+8dup (n.8802+8dup)
8g.99835747G>ACA182339793VPS13Bc.10017+9G>A (n.10017+9G>A)
n.10087+9G>A
c.*5699+9G>A (n.*5699+9G>A)
c.9942+9G>A (n.9942+9G>A)
c.10014+9G>A (n.10014+9G>A)
c.9939+9G>A (n.9939+9G>A)
c.9639+9G>A (n.9639+9G>A)
c.6903+9G>A (n.6903+9G>A)
c.5796+9G>A (n.5796+9G>A)
c.9822+9G>A (n.9822+9G>A)
c.5574+9G>A (n.5574+9G>A)
c.8802+9G>A (n.8802+9G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99835747G>TCA4824827VPS13Bc.10017+9G>T (n.10017+9G>T)
n.10087+9G>T
c.*5699+9G>T (n.*5699+9G>T)
c.9942+9G>T (n.9942+9G>T)
c.10014+9G>T (n.10014+9G>T)
c.9939+9G>T (n.9939+9G>T)
c.9639+9G>T (n.9639+9G>T)
c.6903+9G>T (n.6903+9G>T)
c.5796+9G>T (n.5796+9G>T)
c.9822+9G>T (n.9822+9G>T)
c.5574+9G>T (n.5574+9G>T)
c.8802+9G>T (n.8802+9G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99835748C>TCA2688071175VPS13Bc.10017+10C>T (n.10017+10C>T)
n.10087+10C>T
c.*5699+10C>T (n.*5699+10C>T)
c.9942+10C>T (n.9942+10C>T)
c.10014+10C>T (n.10014+10C>T)
c.9939+10C>T (n.9939+10C>T)
c.9639+10C>T (n.9639+10C>T)
c.6903+10C>T (n.6903+10C>T)
c.5796+10C>T (n.5796+10C>T)
c.9822+10C>T (n.9822+10C>T)
c.5574+10C>T (n.5574+10C>T)
c.8802+10C>T (n.8802+10C>T)
 gnomAD v4
8g.99835749delCA4824828VPS13Bc.10017+11del (n.10017+11del)
n.10087+11del
c.*5699+11del (n.*5699+11del)
c.9942+11del (n.9942+11del)
c.10014+11del (n.10014+11del)
c.9939+11del (n.9939+11del)
c.9639+11del (n.9639+11del)
c.6903+11del (n.6903+11del)
c.5796+11del (n.5796+11del)
c.9822+11del (n.9822+11del)
c.5574+11del (n.5574+11del)
c.8802+11del (n.8802+11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99835749C>GCA583884779VPS13Bc.10017+11C>G (n.10017+11C>G)
n.10087+11C>G
c.*5699+11C>G (n.*5699+11C>G)
c.9942+11C>G (n.9942+11C>G)
c.10014+11C>G (n.10014+11C>G)
c.9939+11C>G (n.9939+11C>G)
c.9639+11C>G (n.9639+11C>G)
c.6903+11C>G (n.6903+11C>G)
c.5796+11C>G (n.5796+11C>G)
c.9822+11C>G (n.9822+11C>G)
c.5574+11C>G (n.5574+11C>G)
c.8802+11C>G (n.8802+11C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.99835749C>TCA583884780VPS13Bc.10017+11C>T (n.10017+11C>T)
n.10087+11C>T
c.*5699+11C>T (n.*5699+11C>T)
c.9942+11C>T (n.9942+11C>T)
c.10014+11C>T (n.10014+11C>T)
c.9939+11C>T (n.9939+11C>T)
c.9639+11C>T (n.9639+11C>T)
c.6903+11C>T (n.6903+11C>T)
c.5796+11C>T (n.5796+11C>T)
c.9822+11C>T (n.9822+11C>T)
c.5574+11C>T (n.5574+11C>T)
c.8802+11C>T (n.8802+11C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.99835750A>GCA2688071176VPS13Bc.10017+12A>G (n.10017+12A>G)
n.10087+12A>G
c.*5699+12A>G (n.*5699+12A>G)
c.9942+12A>G (n.9942+12A>G)
c.10014+12A>G (n.10014+12A>G)
c.9939+12A>G (n.9939+12A>G)
c.9639+12A>G (n.9639+12A>G)
c.6903+12A>G (n.6903+12A>G)
c.5796+12A>G (n.5796+12A>G)
c.9822+12A>G (n.9822+12A>G)
c.5574+12A>G (n.5574+12A>G)
c.8802+12A>G (n.8802+12A>G)
 ClinVar gnomAD v4
8g.99835751T>ACA583884781VPS13Bc.10017+13T>A (n.10017+13T>A)
n.10087+13T>A
c.*5699+13T>A (n.*5699+13T>A)
c.9942+13T>A (n.9942+13T>A)
c.10014+13T>A (n.10014+13T>A)
c.9939+13T>A (n.9939+13T>A)
c.9639+13T>A (n.9639+13T>A)
c.6903+13T>A (n.6903+13T>A)
c.5796+13T>A (n.5796+13T>A)
c.9822+13T>A (n.9822+13T>A)
c.5574+13T>A (n.5574+13T>A)
c.8802+13T>A (n.8802+13T>A)
 dbSNP gnomAD v2 gnomAD v4
8g.99835751T>CCA2579210823VPS13Bc.10017+13T>C (n.10017+13T>C)
n.10087+13T>C
c.*5699+13T>C (n.*5699+13T>C)
c.9942+13T>C (n.9942+13T>C)
c.10014+13T>C (n.10014+13T>C)
c.9939+13T>C (n.9939+13T>C)
c.9639+13T>C (n.9639+13T>C)
c.6903+13T>C (n.6903+13T>C)
c.5796+13T>C (n.5796+13T>C)
c.9822+13T>C (n.9822+13T>C)
c.5574+13T>C (n.5574+13T>C)
c.8802+13T>C (n.8802+13T>C)
8g.99835752_99835763delCA2781479891VPS13Bc.10017+14_10017+25del (n.10017+14_10017+25del)
n.10087+14_10087+25del
c.*5699+14_*5699+25del (n.*5699+14_*5699+25del)
c.9942+14_9942+25del (n.9942+14_9942+25del)
c.10014+14_10014+25del (n.10014+14_10014+25del)
c.9939+14_9939+25del (n.9939+14_9939+25del)
c.9639+14_9639+25del (n.9639+14_9639+25del)
c.6903+14_6903+25del (n.6903+14_6903+25del)
c.5796+14_5796+25del (n.5796+14_5796+25del)
c.9822+14_9822+25del (n.9822+14_9822+25del)
c.5574+14_5574+25del (n.5574+14_5574+25del)
c.8802+14_8802+25del (n.8802+14_8802+25del)
8g.99835755T>ACA2717819614VPS13Bc.10017+17T>A (n.10017+17T>A)
n.10087+17T>A
c.*5699+17T>A (n.*5699+17T>A)
c.9942+17T>A (n.9942+17T>A)
c.10014+17T>A (n.10014+17T>A)
c.9939+17T>A (n.9939+17T>A)
c.9639+17T>A (n.9639+17T>A)
c.6903+17T>A (n.6903+17T>A)
c.5796+17T>A (n.5796+17T>A)
c.9822+17T>A (n.9822+17T>A)
c.5574+17T>A (n.5574+17T>A)
c.8802+17T>A (n.8802+17T>A)
 ClinVar dbSNP
8g.99835757C>ACA2688071178VPS13Bc.10017+19C>A (n.10017+19C>A)
n.10087+19C>A
c.*5699+19C>A (n.*5699+19C>A)
c.9942+19C>A (n.9942+19C>A)
c.10014+19C>A (n.10014+19C>A)
c.9939+19C>A (n.9939+19C>A)
c.9639+19C>A (n.9639+19C>A)
c.6903+19C>A (n.6903+19C>A)
c.5796+19C>A (n.5796+19C>A)
c.9822+19C>A (n.9822+19C>A)
c.5574+19C>A (n.5574+19C>A)
c.8802+19C>A (n.8802+19C>A)
 gnomAD v4
8g.99835758delCA2688071177VPS13Bc.10017+20del (n.10017+20del)
n.10087+20del
c.*5699+20del (n.*5699+20del)
c.9942+20del (n.9942+20del)
c.10014+20del (n.10014+20del)
c.9939+20del (n.9939+20del)
c.9639+20del (n.9639+20del)
c.6903+20del (n.6903+20del)
c.5796+20del (n.5796+20del)
c.9822+20del (n.9822+20del)
c.5574+20del (n.5574+20del)
c.8802+20del (n.8802+20del)
 gnomAD v4
8g.99835758C>TCA583884782VPS13Bc.10017+20C>T (n.10017+20C>T)
n.10087+20C>T
c.*5699+20C>T (n.*5699+20C>T)
c.9942+20C>T (n.9942+20C>T)
c.10014+20C>T (n.10014+20C>T)
c.9939+20C>T (n.9939+20C>T)
c.9639+20C>T (n.9639+20C>T)
c.6903+20C>T (n.6903+20C>T)
c.5796+20C>T (n.5796+20C>T)
c.9822+20C>T (n.9822+20C>T)
c.5574+20C>T (n.5574+20C>T)
c.8802+20C>T (n.8802+20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99835759T>CCA2688071179VPS13Bc.10017+21T>C (n.10017+21T>C)
n.10087+21T>C
c.*5699+21T>C (n.*5699+21T>C)
c.9942+21T>C (n.9942+21T>C)
c.10014+21T>C (n.10014+21T>C)
c.9939+21T>C (n.9939+21T>C)
c.9639+21T>C (n.9639+21T>C)
c.6903+21T>C (n.6903+21T>C)
c.5796+21T>C (n.5796+21T>C)
c.9822+21T>C (n.9822+21T>C)
c.5574+21T>C (n.5574+21T>C)
c.8802+21T>C (n.8802+21T>C)
 dbSNP gnomAD v4
8g.99835760G>ACA2781479893VPS13Bc.10017+22G>A (n.10017+22G>A)
n.10087+22G>A
c.*5699+22G>A (n.*5699+22G>A)
c.9942+22G>A (n.9942+22G>A)
c.10014+22G>A (n.10014+22G>A)
c.9939+22G>A (n.9939+22G>A)
c.9639+22G>A (n.9639+22G>A)
c.6903+22G>A (n.6903+22G>A)
c.5796+22G>A (n.5796+22G>A)
c.9822+22G>A (n.9822+22G>A)
c.5574+22G>A (n.5574+22G>A)
c.8802+22G>A (n.8802+22G>A)
8g.99835760_99835765delCA2781479892VPS13Bc.10017+22_10017+27del (n.10017+22_10017+27del)
n.10087+22_10087+27del
c.*5699+22_*5699+27del (n.*5699+22_*5699+27del)
c.9942+22_9942+27del (n.9942+22_9942+27del)
c.10014+22_10014+27del (n.10014+22_10014+27del)
c.9939+22_9939+27del (n.9939+22_9939+27del)
c.9639+22_9639+27del (n.9639+22_9639+27del)
c.6903+22_6903+27del (n.6903+22_6903+27del)
c.5796+22_5796+27del (n.5796+22_5796+27del)
c.9822+22_9822+27del (n.9822+22_9822+27del)
c.5574+22_5574+27del (n.5574+22_5574+27del)
c.8802+22_8802+27del (n.8802+22_8802+27del)
8g.99835761_99835762delCA2781479894VPS13Bc.10017+23_10017+24del (n.10017+23_10017+24del)
n.10087+23_10087+24del
c.*5699+23_*5699+24del (n.*5699+23_*5699+24del)
c.9942+23_9942+24del (n.9942+23_9942+24del)
c.10014+23_10014+24del (n.10014+23_10014+24del)
c.9939+23_9939+24del (n.9939+23_9939+24del)
c.9639+23_9639+24del (n.9639+23_9639+24del)
c.6903+23_6903+24del (n.6903+23_6903+24del)
c.5796+23_5796+24del (n.5796+23_5796+24del)
c.9822+23_9822+24del (n.9822+23_9822+24del)
c.5574+23_5574+24del (n.5574+23_5574+24del)
c.8802+23_8802+24del (n.8802+23_8802+24del)
8g.99835762C>ACA2781479896VPS13Bc.10017+24C>A (n.10017+24C>A)
n.10087+24C>A
c.*5699+24C>A (n.*5699+24C>A)
c.9942+24C>A (n.9942+24C>A)
c.10014+24C>A (n.10014+24C>A)
c.9939+24C>A (n.9939+24C>A)
c.9639+24C>A (n.9639+24C>A)
c.6903+24C>A (n.6903+24C>A)
c.5796+24C>A (n.5796+24C>A)
c.9822+24C>A (n.9822+24C>A)
c.5574+24C>A (n.5574+24C>A)
c.8802+24C>A (n.8802+24C>A)
8g.99835762C>GCA2781479895VPS13Bc.10017+24C>G (n.10017+24C>G)
n.10087+24C>G
c.*5699+24C>G (n.*5699+24C>G)
c.9942+24C>G (n.9942+24C>G)
c.10014+24C>G (n.10014+24C>G)
c.9939+24C>G (n.9939+24C>G)
c.9639+24C>G (n.9639+24C>G)
c.6903+24C>G (n.6903+24C>G)
c.5796+24C>G (n.5796+24C>G)
c.9822+24C>G (n.9822+24C>G)
c.5574+24C>G (n.5574+24C>G)
c.8802+24C>G (n.8802+24C>G)
8g.99835762C>TCA2688071180VPS13Bc.10017+24C>T (n.10017+24C>T)
n.10087+24C>T
c.*5699+24C>T (n.*5699+24C>T)
c.9942+24C>T (n.9942+24C>T)
c.10014+24C>T (n.10014+24C>T)
c.9939+24C>T (n.9939+24C>T)
c.9639+24C>T (n.9639+24C>T)
c.6903+24C>T (n.6903+24C>T)
c.5796+24C>T (n.5796+24C>T)
c.9822+24C>T (n.9822+24C>T)
c.5574+24C>T (n.5574+24C>T)
c.8802+24C>T (n.8802+24C>T)
 gnomAD v4
8g.99835763A>TCA2781479897VPS13Bc.10017+25A>T (n.10017+25A>T)
n.10087+25A>T
c.*5699+25A>T (n.*5699+25A>T)
c.9942+25A>T (n.9942+25A>T)
c.10014+25A>T (n.10014+25A>T)
c.9939+25A>T (n.9939+25A>T)
c.9639+25A>T (n.9639+25A>T)
c.6903+25A>T (n.6903+25A>T)
c.5796+25A>T (n.5796+25A>T)
c.9822+25A>T (n.9822+25A>T)
c.5574+25A>T (n.5574+25A>T)
c.8802+25A>T (n.8802+25A>T)
8g.99835763_99835764insGTCA2781479898VPS13Bc.10017+25_10017+26insGT (n.10017+25_10017+26insGT)
n.10087+25_10087+26insGT
c.*5699+25_*5699+26insGT (n.*5699+25_*5699+26insGT)
c.9942+25_9942+26insGT (n.9942+25_9942+26insGT)
c.10014+25_10014+26insGT (n.10014+25_10014+26insGT)
c.9939+25_9939+26insGT (n.9939+25_9939+26insGT)
c.9639+25_9639+26insGT (n.9639+25_9639+26insGT)
c.6903+25_6903+26insGT (n.6903+25_6903+26insGT)
c.5796+25_5796+26insGT (n.5796+25_5796+26insGT)
c.9822+25_9822+26insGT (n.9822+25_9822+26insGT)
c.5574+25_5574+26insGT (n.5574+25_5574+26insGT)
c.8802+25_8802+26insGT (n.8802+25_8802+26insGT)
8g.99835764_99835768delCA2781479899VPS13Bc.10017+26_10017+30del (n.10017+26_10017+30del)
n.10087+26_10087+30del
c.*5699+26_*5699+30del (n.*5699+26_*5699+30del)
c.9942+26_9942+30del (n.9942+26_9942+30del)
c.10014+26_10014+30del (n.10014+26_10014+30del)
c.9939+26_9939+30del (n.9939+26_9939+30del)
c.9639+26_9639+30del (n.9639+26_9639+30del)
c.6903+26_6903+30del (n.6903+26_6903+30del)
c.5796+26_5796+30del (n.5796+26_5796+30del)
c.9822+26_9822+30del (n.9822+26_9822+30del)
c.5574+26_5574+30del (n.5574+26_5574+30del)
c.8802+26_8802+30del (n.8802+26_8802+30del)
8g.99835765G>ACA583884783VPS13Bc.10017+27G>A (n.10017+27G>A)
n.10087+27G>A
c.*5699+27G>A (n.*5699+27G>A)
c.9942+27G>A (n.9942+27G>A)
c.10014+27G>A (n.10014+27G>A)
c.9939+27G>A (n.9939+27G>A)
c.9639+27G>A (n.9639+27G>A)
c.6903+27G>A (n.6903+27G>A)
c.5796+27G>A (n.5796+27G>A)
c.9822+27G>A (n.9822+27G>A)
c.5574+27G>A (n.5574+27G>A)
c.8802+27G>A (n.8802+27G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.99835768_99835769delCA2781479900VPS13Bc.10017+30_10017+31del (n.10017+30_10017+31del)
n.10087+30_10087+31del
c.*5699+30_*5699+31del (n.*5699+30_*5699+31del)
c.9942+30_9942+31del (n.9942+30_9942+31del)
c.10014+30_10014+31del (n.10014+30_10014+31del)
c.9939+30_9939+31del (n.9939+30_9939+31del)
c.9639+30_9639+31del (n.9639+30_9639+31del)
c.6903+30_6903+31del (n.6903+30_6903+31del)
c.5796+30_5796+31del (n.5796+30_5796+31del)
c.9822+30_9822+31del (n.9822+30_9822+31del)
c.5574+30_5574+31del (n.5574+30_5574+31del)
c.8802+30_8802+31del (n.8802+30_8802+31del)
8g.99835768C>ACA2688071181VPS13Bc.10017+30C>A (n.10017+30C>A)
n.10087+30C>A
c.*5699+30C>A (n.*5699+30C>A)
c.9942+30C>A (n.9942+30C>A)
c.10014+30C>A (n.10014+30C>A)
c.9939+30C>A (n.9939+30C>A)
c.9639+30C>A (n.9639+30C>A)
c.6903+30C>A (n.6903+30C>A)
c.5796+30C>A (n.5796+30C>A)
c.9822+30C>A (n.9822+30C>A)
c.5574+30C>A (n.5574+30C>A)
c.8802+30C>A (n.8802+30C>A)
 gnomAD v4
8g.99835769C>ACA2688071182VPS13Bc.10017+31C>A (n.10017+31C>A)
n.10087+31C>A
c.*5699+31C>A (n.*5699+31C>A)
c.9942+31C>A (n.9942+31C>A)
c.10014+31C>A (n.10014+31C>A)
c.9939+31C>A (n.9939+31C>A)
c.9639+31C>A (n.9639+31C>A)
c.6903+31C>A (n.6903+31C>A)
c.5796+31C>A (n.5796+31C>A)
c.9822+31C>A (n.9822+31C>A)
c.5574+31C>A (n.5574+31C>A)
c.8802+31C>A (n.8802+31C>A)
 gnomAD v4
8g.99835771A>GCA2781479901VPS13Bc.10017+33A>G (n.10017+33A>G)
n.10087+33A>G
c.*5699+33A>G (n.*5699+33A>G)
c.9942+33A>G (n.9942+33A>G)
c.10014+33A>G (n.10014+33A>G)
c.9939+33A>G (n.9939+33A>G)
c.9639+33A>G (n.9639+33A>G)
c.6903+33A>G (n.6903+33A>G)
c.5796+33A>G (n.5796+33A>G)
c.9822+33A>G (n.9822+33A>G)
c.5574+33A>G (n.5574+33A>G)
c.8802+33A>G (n.8802+33A>G)
8g.99835771_99835772insCTTCA2781479902VPS13Bc.10017+33_10017+34insCTT (n.10017+33_10017+34insCTT)
n.10087+33_10087+34insCTT
c.*5699+33_*5699+34insCTT (n.*5699+33_*5699+34insCTT)
c.9942+33_9942+34insCTT (n.9942+33_9942+34insCTT)
c.10014+33_10014+34insCTT (n.10014+33_10014+34insCTT)
c.9939+33_9939+34insCTT (n.9939+33_9939+34insCTT)
c.9639+33_9639+34insCTT (n.9639+33_9639+34insCTT)
c.6903+33_6903+34insCTT (n.6903+33_6903+34insCTT)
c.5796+33_5796+34insCTT (n.5796+33_5796+34insCTT)
c.9822+33_9822+34insCTT (n.9822+33_9822+34insCTT)
c.5574+33_5574+34insCTT (n.5574+33_5574+34insCTT)
c.8802+33_8802+34insCTT (n.8802+33_8802+34insCTT)
8g.99835771_99835772insGTCCA2781479903VPS13Bc.10017+33_10017+34insGTC (n.10017+33_10017+34insGTC)
n.10087+33_10087+34insGTC
c.*5699+33_*5699+34insGTC (n.*5699+33_*5699+34insGTC)
c.9942+33_9942+34insGTC (n.9942+33_9942+34insGTC)
c.10014+33_10014+34insGTC (n.10014+33_10014+34insGTC)
c.9939+33_9939+34insGTC (n.9939+33_9939+34insGTC)
c.9639+33_9639+34insGTC (n.9639+33_9639+34insGTC)
c.6903+33_6903+34insGTC (n.6903+33_6903+34insGTC)
c.5796+33_5796+34insGTC (n.5796+33_5796+34insGTC)
c.9822+33_9822+34insGTC (n.9822+33_9822+34insGTC)
c.5574+33_5574+34insGTC (n.5574+33_5574+34insGTC)
c.8802+33_8802+34insGTC (n.8802+33_8802+34insGTC)
8g.99835772_99835773insCAGCA2781479904VPS13Bc.10017+34_10017+35insCAG (n.10017+34_10017+35insCAG)
n.10087+34_10087+35insCAG
c.*5699+34_*5699+35insCAG (n.*5699+34_*5699+35insCAG)
c.9942+34_9942+35insCAG (n.9942+34_9942+35insCAG)
c.10014+34_10014+35insCAG (n.10014+34_10014+35insCAG)
c.9939+34_9939+35insCAG (n.9939+34_9939+35insCAG)
c.9639+34_9639+35insCAG (n.9639+34_9639+35insCAG)
c.6903+34_6903+35insCAG (n.6903+34_6903+35insCAG)
c.5796+34_5796+35insCAG (n.5796+34_5796+35insCAG)
c.9822+34_9822+35insCAG (n.9822+34_9822+35insCAG)
c.5574+34_5574+35insCAG (n.5574+34_5574+35insCAG)
c.8802+34_8802+35insCAG (n.8802+34_8802+35insCAG)
8g.99835773G>TCA583884784VPS13Bc.10017+35G>T (n.10017+35G>T)
n.10087+35G>T
c.*5699+35G>T (n.*5699+35G>T)
c.9942+35G>T (n.9942+35G>T)
c.10014+35G>T (n.10014+35G>T)
c.9939+35G>T (n.9939+35G>T)
c.9639+35G>T (n.9639+35G>T)
c.6903+35G>T (n.6903+35G>T)
c.5796+35G>T (n.5796+35G>T)
c.9822+35G>T (n.9822+35G>T)
c.5574+35G>T (n.5574+35G>T)
c.8802+35G>T (n.8802+35G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.99835774A>CCA2717819615VPS13Bc.10017+36A>C (n.10017+36A>C)
n.10087+36A>C
c.*5699+36A>C (n.*5699+36A>C)
c.9942+36A>C (n.9942+36A>C)
c.10014+36A>C (n.10014+36A>C)
c.9939+36A>C (n.9939+36A>C)
c.9639+36A>C (n.9639+36A>C)
c.6903+36A>C (n.6903+36A>C)
c.5796+36A>C (n.5796+36A>C)
c.9822+36A>C (n.9822+36A>C)
c.5574+36A>C (n.5574+36A>C)
c.8802+36A>C (n.8802+36A>C)
 dbSNP
8g.99835774A>GCA2688071184VPS13Bc.10017+36A>G (n.10017+36A>G)
n.10087+36A>G
c.*5699+36A>G (n.*5699+36A>G)
c.9942+36A>G (n.9942+36A>G)
c.10014+36A>G (n.10014+36A>G)
c.9939+36A>G (n.9939+36A>G)
c.9639+36A>G (n.9639+36A>G)
c.6903+36A>G (n.6903+36A>G)
c.5796+36A>G (n.5796+36A>G)
c.9822+36A>G (n.9822+36A>G)
c.5574+36A>G (n.5574+36A>G)
c.8802+36A>G (n.8802+36A>G)
 gnomAD v4
8g.99835778dupCA2781479905VPS13Bc.10017+40dup (n.10017+40dup)
n.10087+40dup
c.*5699+40dup (n.*5699+40dup)
c.9942+40dup (n.9942+40dup)
c.10014+40dup (n.10014+40dup)
c.9939+40dup (n.9939+40dup)
c.9639+40dup (n.9639+40dup)
c.6903+40dup (n.6903+40dup)
c.5796+40dup (n.5796+40dup)
c.9822+40dup (n.9822+40dup)
c.5574+40dup (n.5574+40dup)
c.8802+40dup (n.8802+40dup)
8g.99835778delCA2688071183VPS13Bc.10017+40del (n.10017+40del)
n.10087+40del
c.*5699+40del (n.*5699+40del)
c.9942+40del (n.9942+40del)
c.10014+40del (n.10014+40del)
c.9939+40del (n.9939+40del)
c.9639+40del (n.9639+40del)
c.6903+40del (n.6903+40del)
c.5796+40del (n.5796+40del)
c.9822+40del (n.9822+40del)
c.5574+40del (n.5574+40del)
c.8802+40del (n.8802+40del)
 gnomAD v4
8g.99835776A>GCA857611953VPS13Bc.10017+38A>G (n.10017+38A>G)
n.10087+38A>G
c.*5699+38A>G (n.*5699+38A>G)
c.9942+38A>G (n.9942+38A>G)
c.10014+38A>G (n.10014+38A>G)
c.9939+38A>G (n.9939+38A>G)
c.9639+38A>G (n.9639+38A>G)
c.6903+38A>G (n.6903+38A>G)
c.5796+38A>G (n.5796+38A>G)
c.9822+38A>G (n.9822+38A>G)
c.5574+38A>G (n.5574+38A>G)
c.8802+38A>G (n.8802+38A>G)
 dbSNP

Number of alleles fetched