Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99819513T>ACA371776429VPS13Bc.8798T>A (p.Leu2933His)
n.8868T>A
c.*4480T>A (n.*4480T>A)
c.8723T>A (p.Leu2908His)
c.8795T>A (p.Leu2932His)
c.8720T>A (p.Leu2907His)
c.8420T>A (p.Leu2807His)
c.5684T>A (p.Leu1895His)
c.4577T>A (p.Leu1526His)
c.8603T>A (p.Leu2868His)
c.4355T>A (p.Leu1452His)
c.7583T>A (p.Leu2528His)
8g.99819513T>CCA371776430VPS13Bc.8798T>C (p.Leu2933Pro)
n.8868T>C
c.*4480T>C (n.*4480T>C)
c.8723T>C (p.Leu2908Pro)
c.8795T>C (p.Leu2932Pro)
c.8720T>C (p.Leu2907Pro)
c.8420T>C (p.Leu2807Pro)
c.5684T>C (p.Leu1895Pro)
c.4577T>C (p.Leu1526Pro)
c.8603T>C (p.Leu2868Pro)
c.4355T>C (p.Leu1452Pro)
c.7583T>C (p.Leu2528Pro)
8g.99819513T>GCA371776432VPS13Bc.8798T>G (p.Leu2933Arg)
n.8868T>G
c.*4480T>G (n.*4480T>G)
c.8723T>G (p.Leu2908Arg)
c.8795T>G (p.Leu2932Arg)
c.8720T>G (p.Leu2907Arg)
c.8420T>G (p.Leu2807Arg)
c.5684T>G (p.Leu1895Arg)
c.4577T>G (p.Leu1526Arg)
c.8603T>G (p.Leu2868Arg)
c.4355T>G (p.Leu1452Arg)
c.7583T>G (p.Leu2528Arg)
8g.99819514T>ACA462339504VPS13Bc.8799T>A (p.Leu2933=)
n.8869T>A
c.*4481T>A (n.*4481T>A)
c.8724T>A (p.Leu2908=)
c.8796T>A (p.Leu2932=)
c.8721T>A (p.Leu2907=)
c.8421T>A (p.Leu2807=)
c.5685T>A (p.Leu1895=)
c.4578T>A (p.Leu1526=)
c.8604T>A (p.Leu2868=)
c.4356T>A (p.Leu1452=)
c.7584T>A (p.Leu2528=)
8g.99819514T>CCA462339505VPS13Bc.8799T>C (p.Leu2933=)
n.8869T>C
c.*4481T>C (n.*4481T>C)
c.8724T>C (p.Leu2908=)
c.8796T>C (p.Leu2932=)
c.8721T>C (p.Leu2907=)
c.8421T>C (p.Leu2807=)
c.5685T>C (p.Leu1895=)
c.4578T>C (p.Leu1526=)
c.8604T>C (p.Leu2868=)
c.4356T>C (p.Leu1452=)
c.7584T>C (p.Leu2528=)
8g.99819514T>GCA462339506VPS13Bc.8799T>G (p.Leu2933=)
n.8869T>G
c.*4481T>G (n.*4481T>G)
c.8724T>G (p.Leu2908=)
c.8796T>G (p.Leu2932=)
c.8721T>G (p.Leu2907=)
c.8421T>G (p.Leu2807=)
c.5685T>G (p.Leu1895=)
c.4578T>G (p.Leu1526=)
c.8604T>G (p.Leu2868=)
c.4356T>G (p.Leu1452=)
c.7584T>G (p.Leu2528=)
8g.99819515G>ACA371776434VPS13Bc.8800G>A (p.Asp2934Asn)
n.8870G>A
c.*4482G>A (n.*4482G>A)
c.8725G>A (p.Asp2909Asn)
c.8797G>A (p.Asp2933Asn)
c.8722G>A (p.Asp2908Asn)
c.8422G>A (p.Asp2808Asn)
c.5686G>A (p.Asp1896Asn)
c.4579G>A (p.Asp1527Asn)
c.8605G>A (p.Asp2869Asn)
c.4357G>A (p.Asp1453Asn)
c.7585G>A (p.Asp2529Asn)
 ClinVar gnomAD v4
8g.99819515G>CCA371776438VPS13Bc.8800G>C (p.Asp2934His)
n.8870G>C
c.*4482G>C (n.*4482G>C)
c.8725G>C (p.Asp2909His)
c.8797G>C (p.Asp2933His)
c.8722G>C (p.Asp2908His)
c.8422G>C (p.Asp2808His)
c.5686G>C (p.Asp1896His)
c.4579G>C (p.Asp1527His)
c.8605G>C (p.Asp2869His)
c.4357G>C (p.Asp1453His)
c.7585G>C (p.Asp2529His)
8g.99819515G>TCA371776436VPS13Bc.8800G>T (p.Asp2934Tyr)
n.8870G>T
c.*4482G>T (n.*4482G>T)
c.8725G>T (p.Asp2909Tyr)
c.8797G>T (p.Asp2933Tyr)
c.8722G>T (p.Asp2908Tyr)
c.8422G>T (p.Asp2808Tyr)
c.5686G>T (p.Asp1896Tyr)
c.4579G>T (p.Asp1527Tyr)
c.8605G>T (p.Asp2869Tyr)
c.4357G>T (p.Asp1453Tyr)
c.7585G>T (p.Asp2529Tyr)
8g.99819516A>CCA371776441VPS13Bc.8801A>C (p.Asp2934Ala)
n.8871A>C
c.*4483A>C (n.*4483A>C)
c.8726A>C (p.Asp2909Ala)
c.8798A>C (p.Asp2933Ala)
c.8723A>C (p.Asp2908Ala)
c.8423A>C (p.Asp2808Ala)
c.5687A>C (p.Asp1896Ala)
c.4580A>C (p.Asp1527Ala)
c.8606A>C (p.Asp2869Ala)
c.4358A>C (p.Asp1453Ala)
c.7586A>C (p.Asp2529Ala)
8g.99819516A>GCA371776443VPS13Bc.8801A>G (p.Asp2934Gly)
n.8871A>G
c.*4483A>G (n.*4483A>G)
c.8726A>G (p.Asp2909Gly)
c.8798A>G (p.Asp2933Gly)
c.8723A>G (p.Asp2908Gly)
c.8423A>G (p.Asp2808Gly)
c.5687A>G (p.Asp1896Gly)
c.4580A>G (p.Asp1527Gly)
c.8606A>G (p.Asp2869Gly)
c.4358A>G (p.Asp1453Gly)
c.7586A>G (p.Asp2529Gly)
8g.99819516A>TCA371776445VPS13Bc.8801A>T (p.Asp2934Val)
n.8871A>T
c.*4483A>T (n.*4483A>T)
c.8726A>T (p.Asp2909Val)
c.8798A>T (p.Asp2933Val)
c.8723A>T (p.Asp2908Val)
c.8423A>T (p.Asp2808Val)
c.5687A>T (p.Asp1896Val)
c.4580A>T (p.Asp1527Val)
c.8606A>T (p.Asp2869Val)
c.4358A>T (p.Asp1453Val)
c.7586A>T (p.Asp2529Val)
8g.99819517C>ACA371776447VPS13Bc.8802C>A (p.Asp2934Glu)
n.8872C>A
c.*4484C>A (n.*4484C>A)
c.8727C>A (p.Asp2909Glu)
c.8799C>A (p.Asp2933Glu)
c.8724C>A (p.Asp2908Glu)
c.8424C>A (p.Asp2808Glu)
c.5688C>A (p.Asp1896Glu)
c.4581C>A (p.Asp1527Glu)
c.8607C>A (p.Asp2869Glu)
c.4359C>A (p.Asp1453Glu)
c.7587C>A (p.Asp2529Glu)
8g.99819517C>GCA371776449VPS13Bc.8802C>G (p.Asp2934Glu)
n.8872C>G
c.*4484C>G (n.*4484C>G)
c.8727C>G (p.Asp2909Glu)
c.8799C>G (p.Asp2933Glu)
c.8724C>G (p.Asp2908Glu)
c.8424C>G (p.Asp2808Glu)
c.5688C>G (p.Asp1896Glu)
c.4581C>G (p.Asp1527Glu)
c.8607C>G (p.Asp2869Glu)
c.4359C>G (p.Asp1453Glu)
c.7587C>G (p.Asp2529Glu)
8g.99819517C>TCA4824531VPS13Bc.8802C>T (p.Asp2934=)
n.8872C>T
c.*4484C>T (n.*4484C>T)
c.8727C>T (p.Asp2909=)
c.8799C>T (p.Asp2933=)
c.8724C>T (p.Asp2908=)
c.8424C>T (p.Asp2808=)
c.5688C>T (p.Asp1896=)
c.4581C>T (p.Asp1527=)
c.8607C>T (p.Asp2869=)
c.4359C>T (p.Asp1453=)
c.7587C>T (p.Asp2529=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819518G>ACA4824532VPS13Bc.8803G>A (p.Glu2935Lys)
n.8873G>A
c.*4485G>A (n.*4485G>A)
c.8728G>A (p.Glu2910Lys)
c.8800G>A (p.Glu2934Lys)
c.8725G>A (p.Glu2909Lys)
c.8425G>A (p.Glu2809Lys)
c.5689G>A (p.Glu1897Lys)
c.4582G>A (p.Glu1528Lys)
c.8608G>A (p.Glu2870Lys)
c.4360G>A (p.Glu1454Lys)
c.7588G>A (p.Glu2530Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99819518G>CCA371776453VPS13Bc.8803G>C (p.Glu2935Gln)
n.8873G>C
c.*4485G>C (n.*4485G>C)
c.8728G>C (p.Glu2910Gln)
c.8800G>C (p.Glu2934Gln)
c.8725G>C (p.Glu2909Gln)
c.8425G>C (p.Glu2809Gln)
c.5689G>C (p.Glu1897Gln)
c.4582G>C (p.Glu1528Gln)
c.8608G>C (p.Glu2870Gln)
c.4360G>C (p.Glu1454Gln)
c.7588G>C (p.Glu2530Gln)
 gnomAD v4
8g.99819518G>TCA371776455VPS13Bc.8803G>T (p.Glu2935Ter)
n.8873G>T
c.*4485G>T (n.*4485G>T)
c.8728G>T (p.Glu2910Ter)
c.8800G>T (p.Glu2934Ter)
c.8725G>T (p.Glu2909Ter)
c.8425G>T (p.Glu2809Ter)
c.5689G>T (p.Glu1897Ter)
c.4582G>T (p.Glu1528Ter)
c.8608G>T (p.Glu2870Ter)
c.4360G>T (p.Glu1454Ter)
c.7588G>T (p.Glu2530Ter)
 COSMIC COSMIC
8g.99819519A>CCA371776456VPS13Bc.8804A>C (p.Glu2935Ala)
n.8874A>C
c.*4486A>C (n.*4486A>C)
c.8729A>C (p.Glu2910Ala)
c.8801A>C (p.Glu2934Ala)
c.8726A>C (p.Glu2909Ala)
c.8426A>C (p.Glu2809Ala)
c.5690A>C (p.Glu1897Ala)
c.4583A>C (p.Glu1528Ala)
c.8609A>C (p.Glu2870Ala)
c.4361A>C (p.Glu1454Ala)
c.7589A>C (p.Glu2530Ala)
8g.99819519A>GCA371776457VPS13Bc.8804A>G (p.Glu2935Gly)
n.8874A>G
c.*4486A>G (n.*4486A>G)
c.8729A>G (p.Glu2910Gly)
c.8801A>G (p.Glu2934Gly)
c.8726A>G (p.Glu2909Gly)
c.8426A>G (p.Glu2809Gly)
c.5690A>G (p.Glu1897Gly)
c.4583A>G (p.Glu1528Gly)
c.8609A>G (p.Glu2870Gly)
c.4361A>G (p.Glu1454Gly)
c.7589A>G (p.Glu2530Gly)
8g.99819519A>TCA371776458VPS13Bc.8804A>T (p.Glu2935Val)
n.8874A>T
c.*4486A>T (n.*4486A>T)
c.8729A>T (p.Glu2910Val)
c.8801A>T (p.Glu2934Val)
c.8726A>T (p.Glu2909Val)
c.8426A>T (p.Glu2809Val)
c.5690A>T (p.Glu1897Val)
c.4583A>T (p.Glu1528Val)
c.8609A>T (p.Glu2870Val)
c.4361A>T (p.Glu1454Val)
c.7589A>T (p.Glu2530Val)
8g.99819520A>CCA371776463VPS13Bc.8805A>C (p.Glu2935Asp)
n.8875A>C
c.*4487A>C (n.*4487A>C)
c.8730A>C (p.Glu2910Asp)
c.8802A>C (p.Glu2934Asp)
c.8727A>C (p.Glu2909Asp)
c.8427A>C (p.Glu2809Asp)
c.5691A>C (p.Glu1897Asp)
c.4584A>C (p.Glu1528Asp)
c.8610A>C (p.Glu2870Asp)
c.4362A>C (p.Glu1454Asp)
c.7590A>C (p.Glu2530Asp)
8g.99819520A>GCA462339507VPS13Bc.8805A>G (p.Glu2935=)
n.8875A>G
c.*4487A>G (n.*4487A>G)
c.8730A>G (p.Glu2910=)
c.8802A>G (p.Glu2934=)
c.8727A>G (p.Glu2909=)
c.8427A>G (p.Glu2809=)
c.5691A>G (p.Glu1897=)
c.4584A>G (p.Glu1528=)
c.8610A>G (p.Glu2870=)
c.4362A>G (p.Glu1454=)
c.7590A>G (p.Glu2530=)
 ClinVar dbSNP
8g.99819520A>TCA371776461VPS13Bc.8805A>T (p.Glu2935Asp)
n.8875A>T
c.*4487A>T (n.*4487A>T)
c.8730A>T (p.Glu2910Asp)
c.8802A>T (p.Glu2934Asp)
c.8727A>T (p.Glu2909Asp)
c.8427A>T (p.Glu2809Asp)
c.5691A>T (p.Glu1897Asp)
c.4584A>T (p.Glu1528Asp)
c.8610A>T (p.Glu2870Asp)
c.4362A>T (p.Glu1454Asp)
c.7590A>T (p.Glu2530Asp)
8g.99819521T>ACA371776465VPS13Bc.8806T>A (p.Phe2936Ile)
n.8876T>A
c.*4488T>A (n.*4488T>A)
c.8731T>A (p.Phe2911Ile)
c.8803T>A (p.Phe2935Ile)
c.8728T>A (p.Phe2910Ile)
c.8428T>A (p.Phe2810Ile)
c.5692T>A (p.Phe1898Ile)
c.4585T>A (p.Phe1529Ile)
c.8611T>A (p.Phe2871Ile)
c.4363T>A (p.Phe1455Ile)
c.7591T>A (p.Phe2531Ile)
8g.99819521T>CCA371776469VPS13Bc.8806T>C (p.Phe2936Leu)
n.8876T>C
c.*4488T>C (n.*4488T>C)
c.8731T>C (p.Phe2911Leu)
c.8803T>C (p.Phe2935Leu)
c.8728T>C (p.Phe2910Leu)
c.8428T>C (p.Phe2810Leu)
c.5692T>C (p.Phe1898Leu)
c.4585T>C (p.Phe1529Leu)
c.8611T>C (p.Phe2871Leu)
c.4363T>C (p.Phe1455Leu)
c.7591T>C (p.Phe2531Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.99819521T>GCA371776467VPS13Bc.8806T>G (p.Phe2936Val)
n.8876T>G
c.*4488T>G (n.*4488T>G)
c.8731T>G (p.Phe2911Val)
c.8803T>G (p.Phe2935Val)
c.8728T>G (p.Phe2910Val)
c.8428T>G (p.Phe2810Val)
c.5692T>G (p.Phe1898Val)
c.4585T>G (p.Phe1529Val)
c.8611T>G (p.Phe2871Val)
c.4363T>G (p.Phe1455Val)
c.7591T>G (p.Phe2531Val)
8g.99819522T>ACA371776471VPS13Bc.8807T>A (p.Phe2936Tyr)
n.8877T>A
c.*4489T>A (n.*4489T>A)
c.8732T>A (p.Phe2911Tyr)
c.8804T>A (p.Phe2935Tyr)
c.8729T>A (p.Phe2910Tyr)
c.8429T>A (p.Phe2810Tyr)
c.5693T>A (p.Phe1898Tyr)
c.4586T>A (p.Phe1529Tyr)
c.8612T>A (p.Phe2871Tyr)
c.4364T>A (p.Phe1455Tyr)
c.7592T>A (p.Phe2531Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.99819522T>CCA371776475VPS13Bc.8807T>C (p.Phe2936Ser)
n.8877T>C
c.*4489T>C (n.*4489T>C)
c.8732T>C (p.Phe2911Ser)
c.8804T>C (p.Phe2935Ser)
c.8729T>C (p.Phe2910Ser)
c.8429T>C (p.Phe2810Ser)
c.5693T>C (p.Phe1898Ser)
c.4586T>C (p.Phe1529Ser)
c.8612T>C (p.Phe2871Ser)
c.4364T>C (p.Phe1455Ser)
c.7592T>C (p.Phe2531Ser)
8g.99819522T>GCA371776473VPS13Bc.8807T>G (p.Phe2936Cys)
n.8877T>G
c.*4489T>G (n.*4489T>G)
c.8732T>G (p.Phe2911Cys)
c.8804T>G (p.Phe2935Cys)
c.8729T>G (p.Phe2910Cys)
c.8429T>G (p.Phe2810Cys)
c.5693T>G (p.Phe1898Cys)
c.4586T>G (p.Phe1529Cys)
c.8612T>G (p.Phe2871Cys)
c.4364T>G (p.Phe1455Cys)
c.7592T>G (p.Phe2531Cys)
8g.99819523C>ACA371776477VPS13Bc.8808C>A (p.Phe2936Leu)
n.8878C>A
c.*4490C>A (n.*4490C>A)
c.8733C>A (p.Phe2911Leu)
c.8805C>A (p.Phe2935Leu)
c.8730C>A (p.Phe2910Leu)
c.8430C>A (p.Phe2810Leu)
c.5694C>A (p.Phe1898Leu)
c.4587C>A (p.Phe1529Leu)
c.8613C>A (p.Phe2871Leu)
c.4365C>A (p.Phe1455Leu)
c.7593C>A (p.Phe2531Leu)
 ClinVar dbSNP COSMIC COSMIC
8g.99819523C>GCA371776478VPS13Bc.8808C>G (p.Phe2936Leu)
n.8878C>G
c.*4490C>G (n.*4490C>G)
c.8733C>G (p.Phe2911Leu)
c.8805C>G (p.Phe2935Leu)
c.8730C>G (p.Phe2910Leu)
c.8430C>G (p.Phe2810Leu)
c.5694C>G (p.Phe1898Leu)
c.4587C>G (p.Phe1529Leu)
c.8613C>G (p.Phe2871Leu)
c.4365C>G (p.Phe1455Leu)
c.7593C>G (p.Phe2531Leu)
8g.99819523C>TCA182328736VPS13Bc.8808C>T (p.Phe2936=)
n.8878C>T
c.*4490C>T (n.*4490C>T)
c.8733C>T (p.Phe2911=)
c.8805C>T (p.Phe2935=)
c.8730C>T (p.Phe2910=)
c.8430C>T (p.Phe2810=)
c.5694C>T (p.Phe1898=)
c.4587C>T (p.Phe1529=)
c.8613C>T (p.Phe2871=)
c.4365C>T (p.Phe1455=)
c.7593C>T (p.Phe2531=)
 ClinVar dbSNP COSMIC COSMIC
8g.99819524T>ACA371776481VPS13Bc.8809T>A (p.Tyr2937Asn)
n.8879T>A
c.*4491T>A (n.*4491T>A)
c.8734T>A (p.Tyr2912Asn)
c.8806T>A (p.Tyr2936Asn)
c.8731T>A (p.Tyr2911Asn)
c.8431T>A (p.Tyr2811Asn)
c.5695T>A (p.Tyr1899Asn)
c.4588T>A (p.Tyr1530Asn)
c.8614T>A (p.Tyr2872Asn)
c.4366T>A (p.Tyr1456Asn)
c.7594T>A (p.Tyr2532Asn)
8g.99819524T>CCA4824533VPS13Bc.8809T>C (p.Tyr2937His)
n.8879T>C
c.*4491T>C (n.*4491T>C)
c.8734T>C (p.Tyr2912His)
c.8806T>C (p.Tyr2936His)
c.8731T>C (p.Tyr2911His)
c.8431T>C (p.Tyr2811His)
c.5695T>C (p.Tyr1899His)
c.4588T>C (p.Tyr1530His)
c.8614T>C (p.Tyr2872His)
c.4366T>C (p.Tyr1456His)
c.7594T>C (p.Tyr2532His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819524T>GCA371776483VPS13Bc.8809T>G (p.Tyr2937Asp)
n.8879T>G
c.*4491T>G (n.*4491T>G)
c.8734T>G (p.Tyr2912Asp)
c.8806T>G (p.Tyr2936Asp)
c.8731T>G (p.Tyr2911Asp)
c.8431T>G (p.Tyr2811Asp)
c.5695T>G (p.Tyr1899Asp)
c.4588T>G (p.Tyr1530Asp)
c.8614T>G (p.Tyr2872Asp)
c.4366T>G (p.Tyr1456Asp)
c.7594T>G (p.Tyr2532Asp)
8g.99819525A>CCA371776486VPS13Bc.8810A>C (p.Tyr2937Ser)
n.8880A>C
c.*4492A>C (n.*4492A>C)
c.8735A>C (p.Tyr2912Ser)
c.8807A>C (p.Tyr2936Ser)
c.8732A>C (p.Tyr2911Ser)
c.8432A>C (p.Tyr2811Ser)
c.5696A>C (p.Tyr1899Ser)
c.4589A>C (p.Tyr1530Ser)
c.8615A>C (p.Tyr2872Ser)
c.4367A>C (p.Tyr1456Ser)
c.7595A>C (p.Tyr2532Ser)
8g.99819525A>GCA4824534VPS13Bc.8810A>G (p.Tyr2937Cys)
n.8880A>G
c.*4492A>G (n.*4492A>G)
c.8735A>G (p.Tyr2912Cys)
c.8807A>G (p.Tyr2936Cys)
c.8732A>G (p.Tyr2911Cys)
c.8432A>G (p.Tyr2811Cys)
c.5696A>G (p.Tyr1899Cys)
c.4589A>G (p.Tyr1530Cys)
c.8615A>G (p.Tyr2872Cys)
c.4367A>G (p.Tyr1456Cys)
c.7595A>G (p.Tyr2532Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819525A>TCA371776488VPS13Bc.8810A>T (p.Tyr2937Phe)
n.8880A>T
c.*4492A>T (n.*4492A>T)
c.8735A>T (p.Tyr2912Phe)
c.8807A>T (p.Tyr2936Phe)
c.8732A>T (p.Tyr2911Phe)
c.8432A>T (p.Tyr2811Phe)
c.5696A>T (p.Tyr1899Phe)
c.4589A>T (p.Tyr1530Phe)
c.8615A>T (p.Tyr2872Phe)
c.4367A>T (p.Tyr1456Phe)
c.7595A>T (p.Tyr2532Phe)
8g.99819526T>ACA371776490VPS13Bc.8811T>A (p.Tyr2937Ter)
n.8881T>A
c.*4493T>A (n.*4493T>A)
c.8736T>A (p.Tyr2912Ter)
c.8808T>A (p.Tyr2936Ter)
c.8733T>A (p.Tyr2911Ter)
c.8433T>A (p.Tyr2811Ter)
c.5697T>A (p.Tyr1899Ter)
c.4590T>A (p.Tyr1530Ter)
c.8616T>A (p.Tyr2872Ter)
c.4368T>A (p.Tyr1456Ter)
c.7596T>A (p.Tyr2532Ter)
8g.99819526T>CCA462339508VPS13Bc.8811T>C (p.Tyr2937=)
n.8881T>C
c.*4493T>C (n.*4493T>C)
c.8736T>C (p.Tyr2912=)
c.8808T>C (p.Tyr2936=)
c.8733T>C (p.Tyr2911=)
c.8433T>C (p.Tyr2811=)
c.5697T>C (p.Tyr1899=)
c.4590T>C (p.Tyr1530=)
c.8616T>C (p.Tyr2872=)
c.4368T>C (p.Tyr1456=)
c.7596T>C (p.Tyr2532=)
 gnomAD v4
8g.99819526T>GCA371776492VPS13Bc.8811T>G (p.Tyr2937Ter)
n.8881T>G
c.*4493T>G (n.*4493T>G)
c.8736T>G (p.Tyr2912Ter)
c.8808T>G (p.Tyr2936Ter)
c.8733T>G (p.Tyr2911Ter)
c.8433T>G (p.Tyr2811Ter)
c.5697T>G (p.Tyr1899Ter)
c.4590T>G (p.Tyr1530Ter)
c.8616T>G (p.Tyr2872Ter)
c.4368T>G (p.Tyr1456Ter)
c.7596T>G (p.Tyr2532Ter)
8g.99819527G>ACA371776494VPS13Bc.8812G>A (p.Gly2938Arg)
n.8882G>A
c.*4494G>A (n.*4494G>A)
c.8737G>A (p.Gly2913Arg)
c.8809G>A (p.Gly2937Arg)
c.8734G>A (p.Gly2912Arg)
c.8434G>A (p.Gly2812Arg)
c.5698G>A (p.Gly1900Arg)
c.4591G>A (p.Gly1531Arg)
c.8617G>A (p.Gly2873Arg)
c.4369G>A (p.Gly1457Arg)
c.7597G>A (p.Gly2533Arg)
8g.99819527G>CCA371776496VPS13Bc.8812G>C (p.Gly2938Arg)
n.8882G>C
c.*4494G>C (n.*4494G>C)
c.8737G>C (p.Gly2913Arg)
c.8809G>C (p.Gly2937Arg)
c.8734G>C (p.Gly2912Arg)
c.8434G>C (p.Gly2812Arg)
c.5698G>C (p.Gly1900Arg)
c.4591G>C (p.Gly1531Arg)
c.8617G>C (p.Gly2873Arg)
c.4369G>C (p.Gly1457Arg)
c.7597G>C (p.Gly2533Arg)
8g.99819527G>TCA4824535VPS13Bc.8812G>T (p.Gly2938Trp)
n.8882G>T
c.*4494G>T (n.*4494G>T)
c.8737G>T (p.Gly2913Trp)
c.8809G>T (p.Gly2937Trp)
c.8734G>T (p.Gly2912Trp)
c.8434G>T (p.Gly2812Trp)
c.5698G>T (p.Gly1900Trp)
c.4591G>T (p.Gly1531Trp)
c.8617G>T (p.Gly2873Trp)
c.4369G>T (p.Gly1457Trp)
c.7597G>T (p.Gly2533Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819528G>ACA371776499VPS13Bc.8813G>A (p.Gly2938Glu)
n.8883G>A
c.*4495G>A (n.*4495G>A)
c.8738G>A (p.Gly2913Glu)
c.8810G>A (p.Gly2937Glu)
c.8735G>A (p.Gly2912Glu)
c.8435G>A (p.Gly2812Glu)
c.5699G>A (p.Gly1900Glu)
c.4592G>A (p.Gly1531Glu)
c.8618G>A (p.Gly2873Glu)
c.4370G>A (p.Gly1457Glu)
c.7598G>A (p.Gly2533Glu)
 COSMIC COSMIC
8g.99819528G>CCA371776501VPS13Bc.8813G>C (p.Gly2938Ala)
n.8883G>C
c.*4495G>C (n.*4495G>C)
c.8738G>C (p.Gly2913Ala)
c.8810G>C (p.Gly2937Ala)
c.8735G>C (p.Gly2912Ala)
c.8435G>C (p.Gly2812Ala)
c.5699G>C (p.Gly1900Ala)
c.4592G>C (p.Gly1531Ala)
c.8618G>C (p.Gly2873Ala)
c.4370G>C (p.Gly1457Ala)
c.7598G>C (p.Gly2533Ala)
8g.99819528G>TCA371776503VPS13Bc.8813G>T (p.Gly2938Val)
n.8883G>T
c.*4495G>T (n.*4495G>T)
c.8738G>T (p.Gly2913Val)
c.8810G>T (p.Gly2937Val)
c.8735G>T (p.Gly2912Val)
c.8435G>T (p.Gly2812Val)
c.5699G>T (p.Gly1900Val)
c.4592G>T (p.Gly1531Val)
c.8618G>T (p.Gly2873Val)
c.4370G>T (p.Gly1457Val)
c.7598G>T (p.Gly2533Val)
8g.99819529G>ACA462339509VPS13Bc.8814G>A (p.Gly2938=)
n.8884G>A
c.*4496G>A (n.*4496G>A)
c.8739G>A (p.Gly2913=)
c.8811G>A (p.Gly2937=)
c.8736G>A (p.Gly2912=)
c.8436G>A (p.Gly2812=)
c.5700G>A (p.Gly1900=)
c.4593G>A (p.Gly1531=)
c.8619G>A (p.Gly2873=)
c.4371G>A (p.Gly1457=)
c.7599G>A (p.Gly2533=)
8g.99819529G>CCA462339510VPS13Bc.8814G>C (p.Gly2938=)
n.8884G>C
c.*4496G>C (n.*4496G>C)
c.8739G>C (p.Gly2913=)
c.8811G>C (p.Gly2937=)
c.8736G>C (p.Gly2912=)
c.8436G>C (p.Gly2812=)
c.5700G>C (p.Gly1900=)
c.4593G>C (p.Gly1531=)
c.8619G>C (p.Gly2873=)
c.4371G>C (p.Gly1457=)
c.7599G>C (p.Gly2533=)
8g.99819529G>TCA207444VPS13Bc.8814G>T (p.Gly2938=)
n.8884G>T
c.*4496G>T (n.*4496G>T)
c.8739G>T (p.Gly2913=)
c.8811G>T (p.Gly2937=)
c.8736G>T (p.Gly2912=)
c.8436G>T (p.Gly2812=)
c.5700G>T (p.Gly1900=)
c.4593G>T (p.Gly1531=)
c.8619G>T (p.Gly2873=)
c.4371G>T (p.Gly1457=)
c.7599G>T (p.Gly2533=)
 ClinVar dbSNP gnomAD v4
8g.99819530C>ACA371776507VPS13Bc.8815C>A (p.Pro2939Thr)
n.8885C>A
c.*4497C>A (n.*4497C>A)
c.8740C>A (p.Pro2914Thr)
c.8812C>A (p.Pro2938Thr)
c.8737C>A (p.Pro2913Thr)
c.8437C>A (p.Pro2813Thr)
c.5701C>A (p.Pro1901Thr)
c.4594C>A (p.Pro1532Thr)
c.8620C>A (p.Pro2874Thr)
c.4372C>A (p.Pro1458Thr)
c.7600C>A (p.Pro2534Thr)
8g.99819530C>GCA371776511VPS13Bc.8815C>G (p.Pro2939Ala)
n.8885C>G
c.*4497C>G (n.*4497C>G)
c.8740C>G (p.Pro2914Ala)
c.8812C>G (p.Pro2938Ala)
c.8737C>G (p.Pro2913Ala)
c.8437C>G (p.Pro2813Ala)
c.5701C>G (p.Pro1901Ala)
c.4594C>G (p.Pro1532Ala)
c.8620C>G (p.Pro2874Ala)
c.4372C>G (p.Pro1458Ala)
c.7600C>G (p.Pro2534Ala)
8g.99819530C>TCA371776509VPS13Bc.8815C>T (p.Pro2939Ser)
n.8885C>T
c.*4497C>T (n.*4497C>T)
c.8740C>T (p.Pro2914Ser)
c.8812C>T (p.Pro2938Ser)
c.8737C>T (p.Pro2913Ser)
c.8437C>T (p.Pro2813Ser)
c.5701C>T (p.Pro1901Ser)
c.4594C>T (p.Pro1532Ser)
c.8620C>T (p.Pro2874Ser)
c.4372C>T (p.Pro1458Ser)
c.7600C>T (p.Pro2534Ser)
8g.99819531delCA462339511VPS13Bc.8816del (p.Pro2939GlnfsTer22)
n.8886del
c.*4498del (n.*4498del)
c.8741del (p.Pro2914GlnfsTer22)
c.8813del (p.Pro2938GlnfsTer22)
c.8738del (p.Pro2913GlnfsTer22)
c.8438del (p.Pro2813GlnfsTer22)
c.5702del (p.Pro1901GlnfsTer22)
c.4595del (p.Pro1532GlnfsTer22)
c.8621del (p.Pro2874GlnfsTer22)
c.4373del (p.Pro1458GlnfsTer22)
c.7601del (p.Pro2534GlnfsTer22)
8g.99819531C>ACA371776513VPS13Bc.8816C>A (p.Pro2939Gln)
n.8886C>A
c.*4498C>A (n.*4498C>A)
c.8741C>A (p.Pro2914Gln)
c.8813C>A (p.Pro2938Gln)
c.8738C>A (p.Pro2913Gln)
c.8438C>A (p.Pro2813Gln)
c.5702C>A (p.Pro1901Gln)
c.4595C>A (p.Pro1532Gln)
c.8621C>A (p.Pro2874Gln)
c.4373C>A (p.Pro1458Gln)
c.7601C>A (p.Pro2534Gln)
8g.99819531C>GCA371776515VPS13Bc.8816C>G (p.Pro2939Arg)
n.8886C>G
c.*4498C>G (n.*4498C>G)
c.8741C>G (p.Pro2914Arg)
c.8813C>G (p.Pro2938Arg)
c.8738C>G (p.Pro2913Arg)
c.8438C>G (p.Pro2813Arg)
c.5702C>G (p.Pro1901Arg)
c.4595C>G (p.Pro1532Arg)
c.8621C>G (p.Pro2874Arg)
c.4373C>G (p.Pro1458Arg)
c.7601C>G (p.Pro2534Arg)
8g.99819531C>TCA4824536VPS13Bc.8816C>T (p.Pro2939Leu)
n.8886C>T
c.*4498C>T (n.*4498C>T)
c.8741C>T (p.Pro2914Leu)
c.8813C>T (p.Pro2938Leu)
c.8738C>T (p.Pro2913Leu)
c.8438C>T (p.Pro2813Leu)
c.5702C>T (p.Pro1901Leu)
c.4595C>T (p.Pro1532Leu)
c.8621C>T (p.Pro2874Leu)
c.4373C>T (p.Pro1458Leu)
c.7601C>T (p.Pro2534Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819531_99819546delCA2697550098VPS13Bc.8816_8831del (p.Pro2939HisfsTer17)
n.8886_8901del
c.*4498_*4513del (n.*4498_*4513del)
c.8741_8756del (p.Pro2914HisfsTer17)
c.8813_8828del (p.Pro2938HisfsTer17)
c.8738_8753del (p.Pro2913HisfsTer17)
c.8438_8453del (p.Pro2813HisfsTer17)
c.5702_5717del (p.Pro1901HisfsTer17)
c.4595_4610del (p.Pro1532HisfsTer17)
c.8621_8636del (p.Pro2874HisfsTer17)
c.4373_4388del (p.Pro1458HisfsTer17)
c.7601_7616del (p.Pro2534HisfsTer17)
 ClinVar
8g.99819532A>CCA462339512VPS13Bc.8817A>C (p.Pro2939=)
n.8887A>C
c.*4499A>C (n.*4499A>C)
c.8742A>C (p.Pro2914=)
c.8814A>C (p.Pro2938=)
c.8739A>C (p.Pro2913=)
c.8439A>C (p.Pro2813=)
c.5703A>C (p.Pro1901=)
c.4596A>C (p.Pro1532=)
c.8622A>C (p.Pro2874=)
c.4374A>C (p.Pro1458=)
c.7602A>C (p.Pro2534=)
8g.99819532A>GCA182328755VPS13Bc.8817A>G (p.Pro2939=)
n.8887A>G
c.*4499A>G (n.*4499A>G)
c.8742A>G (p.Pro2914=)
c.8814A>G (p.Pro2938=)
c.8739A>G (p.Pro2913=)
c.8439A>G (p.Pro2813=)
c.5703A>G (p.Pro1901=)
c.4596A>G (p.Pro1532=)
c.8622A>G (p.Pro2874=)
c.4374A>G (p.Pro1458=)
c.7602A>G (p.Pro2534=)
 dbSNP
8g.99819532A>TCA462339513VPS13Bc.8817A>T (p.Pro2939=)
n.8887A>T
c.*4499A>T (n.*4499A>T)
c.8742A>T (p.Pro2914=)
c.8814A>T (p.Pro2938=)
c.8739A>T (p.Pro2913=)
c.8439A>T (p.Pro2813=)
c.5703A>T (p.Pro1901=)
c.4596A>T (p.Pro1532=)
c.8622A>T (p.Pro2874=)
c.4374A>T (p.Pro1458=)
c.7602A>T (p.Pro2534=)
8g.99819533G>ACA371776518VPS13Bc.8818G>A (p.Glu2940Lys)
n.8888G>A
c.*4500G>A (n.*4500G>A)
c.8743G>A (p.Glu2915Lys)
c.8815G>A (p.Glu2939Lys)
c.8740G>A (p.Glu2914Lys)
c.8440G>A (p.Glu2814Lys)
c.5704G>A (p.Glu1902Lys)
c.4597G>A (p.Glu1533Lys)
c.8623G>A (p.Glu2875Lys)
c.4375G>A (p.Glu1459Lys)
c.7603G>A (p.Glu2535Lys)
8g.99819533G>CCA371776520VPS13Bc.8818G>C (p.Glu2940Gln)
n.8888G>C
c.*4500G>C (n.*4500G>C)
c.8743G>C (p.Glu2915Gln)
c.8815G>C (p.Glu2939Gln)
c.8740G>C (p.Glu2914Gln)
c.8440G>C (p.Glu2814Gln)
c.5704G>C (p.Glu1902Gln)
c.4597G>C (p.Glu1533Gln)
c.8623G>C (p.Glu2875Gln)
c.4375G>C (p.Glu1459Gln)
c.7603G>C (p.Glu2535Gln)
8g.99819533G>TCA371776522VPS13Bc.8818G>T (p.Glu2940Ter)
n.8888G>T
c.*4500G>T (n.*4500G>T)
c.8743G>T (p.Glu2915Ter)
c.8815G>T (p.Glu2939Ter)
c.8740G>T (p.Glu2914Ter)
c.8440G>T (p.Glu2814Ter)
c.5704G>T (p.Glu1902Ter)
c.4597G>T (p.Glu1533Ter)
c.8623G>T (p.Glu2875Ter)
c.4375G>T (p.Glu1459Ter)
c.7603G>T (p.Glu2535Ter)
8g.99819534A>CCA371776524VPS13Bc.8819A>C (p.Glu2940Ala)
n.8889A>C
c.*4501A>C (n.*4501A>C)
c.8744A>C (p.Glu2915Ala)
c.8816A>C (p.Glu2939Ala)
c.8741A>C (p.Glu2914Ala)
c.8441A>C (p.Glu2814Ala)
c.5705A>C (p.Glu1902Ala)
c.4598A>C (p.Glu1533Ala)
c.8624A>C (p.Glu2875Ala)
c.4376A>C (p.Glu1459Ala)
c.7604A>C (p.Glu2535Ala)
8g.99819534A>GCA371776526VPS13Bc.8819A>G (p.Glu2940Gly)
n.8889A>G
c.*4501A>G (n.*4501A>G)
c.8744A>G (p.Glu2915Gly)
c.8816A>G (p.Glu2939Gly)
c.8741A>G (p.Glu2914Gly)
c.8441A>G (p.Glu2814Gly)
c.5705A>G (p.Glu1902Gly)
c.4598A>G (p.Glu1533Gly)
c.8624A>G (p.Glu2875Gly)
c.4376A>G (p.Glu1459Gly)
c.7604A>G (p.Glu2535Gly)
8g.99819534A>TCA371776528VPS13Bc.8819A>T (p.Glu2940Val)
n.8889A>T
c.*4501A>T (n.*4501A>T)
c.8744A>T (p.Glu2915Val)
c.8816A>T (p.Glu2939Val)
c.8741A>T (p.Glu2914Val)
c.8441A>T (p.Glu2814Val)
c.5705A>T (p.Glu1902Val)
c.4598A>T (p.Glu1533Val)
c.8624A>T (p.Glu2875Val)
c.4376A>T (p.Glu1459Val)
c.7604A>T (p.Glu2535Val)
8g.99819535A>CCA371776530VPS13Bc.8820A>C (p.Glu2940Asp)
n.8890A>C
c.*4502A>C (n.*4502A>C)
c.8745A>C (p.Glu2915Asp)
c.8817A>C (p.Glu2939Asp)
c.8742A>C (p.Glu2914Asp)
c.8442A>C (p.Glu2814Asp)
c.5706A>C (p.Glu1902Asp)
c.4599A>C (p.Glu1533Asp)
c.8625A>C (p.Glu2875Asp)
c.4377A>C (p.Glu1459Asp)
c.7605A>C (p.Glu2535Asp)
8g.99819535A>GCA462339514VPS13Bc.8820A>G (p.Glu2940=)
n.8890A>G
c.*4502A>G (n.*4502A>G)
c.8745A>G (p.Glu2915=)
c.8817A>G (p.Glu2939=)
c.8742A>G (p.Glu2914=)
c.8442A>G (p.Glu2814=)
c.5706A>G (p.Glu1902=)
c.4599A>G (p.Glu1533=)
c.8625A>G (p.Glu2875=)
c.4377A>G (p.Glu1459=)
c.7605A>G (p.Glu2535=)
 ClinVar gnomAD v4
8g.99819535A>TCA371776532VPS13Bc.8820A>T (p.Glu2940Asp)
n.8890A>T
c.*4502A>T (n.*4502A>T)
c.8745A>T (p.Glu2915Asp)
c.8817A>T (p.Glu2939Asp)
c.8742A>T (p.Glu2914Asp)
c.8442A>T (p.Glu2814Asp)
c.5706A>T (p.Glu1902Asp)
c.4599A>T (p.Glu1533Asp)
c.8625A>T (p.Glu2875Asp)
c.4377A>T (p.Glu1459Asp)
c.7605A>T (p.Glu2535Asp)
8g.99819536A>CCA371776534VPS13Bc.8821A>C (p.Lys2941Gln)
n.8891A>C
c.*4503A>C (n.*4503A>C)
c.8746A>C (p.Lys2916Gln)
c.8818A>C (p.Lys2940Gln)
c.8743A>C (p.Lys2915Gln)
c.8443A>C (p.Lys2815Gln)
c.5707A>C (p.Lys1903Gln)
c.4600A>C (p.Lys1534Gln)
c.8626A>C (p.Lys2876Gln)
c.4378A>C (p.Lys1460Gln)
c.7606A>C (p.Lys2536Gln)
8g.99819536A>GCA371776537VPS13Bc.8821A>G (p.Lys2941Glu)
n.8891A>G
c.*4503A>G (n.*4503A>G)
c.8746A>G (p.Lys2916Glu)
c.8818A>G (p.Lys2940Glu)
c.8743A>G (p.Lys2915Glu)
c.8443A>G (p.Lys2815Glu)
c.5707A>G (p.Lys1903Glu)
c.4600A>G (p.Lys1534Glu)
c.8626A>G (p.Lys2876Glu)
c.4378A>G (p.Lys1460Glu)
c.7606A>G (p.Lys2536Glu)
8g.99819536A>TCA371776535VPS13Bc.8821A>T (p.Lys2941Ter)
n.8891A>T
c.*4503A>T (n.*4503A>T)
c.8746A>T (p.Lys2916Ter)
c.8818A>T (p.Lys2940Ter)
c.8743A>T (p.Lys2915Ter)
c.8443A>T (p.Lys2815Ter)
c.5707A>T (p.Lys1903Ter)
c.4600A>T (p.Lys1534Ter)
c.8626A>T (p.Lys2876Ter)
c.4378A>T (p.Lys1460Ter)
c.7606A>T (p.Lys2536Ter)
8g.99819537A>CCA371776539VPS13Bc.8822A>C (p.Lys2941Thr)
n.8892A>C
c.*4504A>C (n.*4504A>C)
c.8747A>C (p.Lys2916Thr)
c.8819A>C (p.Lys2940Thr)
c.8744A>C (p.Lys2915Thr)
c.8444A>C (p.Lys2815Thr)
c.5708A>C (p.Lys1903Thr)
c.4601A>C (p.Lys1534Thr)
c.8627A>C (p.Lys2876Thr)
c.4379A>C (p.Lys1460Thr)
c.7607A>C (p.Lys2536Thr)
8g.99819537A>GCA371776541VPS13Bc.8822A>G (p.Lys2941Arg)
n.8892A>G
c.*4504A>G (n.*4504A>G)
c.8747A>G (p.Lys2916Arg)
c.8819A>G (p.Lys2940Arg)
c.8744A>G (p.Lys2915Arg)
c.8444A>G (p.Lys2815Arg)
c.5708A>G (p.Lys1903Arg)
c.4601A>G (p.Lys1534Arg)
c.8627A>G (p.Lys2876Arg)
c.4379A>G (p.Lys1460Arg)
c.7607A>G (p.Lys2536Arg)
8g.99819537A>TCA371776543VPS13Bc.8822A>T (p.Lys2941Met)
n.8892A>T
c.*4504A>T (n.*4504A>T)
c.8747A>T (p.Lys2916Met)
c.8819A>T (p.Lys2940Met)
c.8744A>T (p.Lys2915Met)
c.8444A>T (p.Lys2815Met)
c.5708A>T (p.Lys1903Met)
c.4601A>T (p.Lys1534Met)
c.8627A>T (p.Lys2876Met)
c.4379A>T (p.Lys1460Met)
c.7607A>T (p.Lys2536Met)
8g.99819538G>ACA462339515VPS13Bc.8823G>A (p.Lys2941=)
n.8893G>A
c.*4505G>A (n.*4505G>A)
c.8748G>A (p.Lys2916=)
c.8820G>A (p.Lys2940=)
c.8745G>A (p.Lys2915=)
c.8445G>A (p.Lys2815=)
c.5709G>A (p.Lys1903=)
c.4602G>A (p.Lys1534=)
c.8628G>A (p.Lys2876=)
c.4380G>A (p.Lys1460=)
c.7608G>A (p.Lys2536=)
8g.99819538G>CCA371776545VPS13Bc.8823G>C (p.Lys2941Asn)
n.8893G>C
c.*4505G>C (n.*4505G>C)
c.8748G>C (p.Lys2916Asn)
c.8820G>C (p.Lys2940Asn)
c.8745G>C (p.Lys2915Asn)
c.8445G>C (p.Lys2815Asn)
c.5709G>C (p.Lys1903Asn)
c.4602G>C (p.Lys1534Asn)
c.8628G>C (p.Lys2876Asn)
c.4380G>C (p.Lys1460Asn)
c.7608G>C (p.Lys2536Asn)
8g.99819538G>TCA371776547VPS13Bc.8823G>T (p.Lys2941Asn)
n.8893G>T
c.*4505G>T (n.*4505G>T)
c.8748G>T (p.Lys2916Asn)
c.8820G>T (p.Lys2940Asn)
c.8745G>T (p.Lys2915Asn)
c.8445G>T (p.Lys2815Asn)
c.5709G>T (p.Lys1903Asn)
c.4602G>T (p.Lys1534Asn)
c.8628G>T (p.Lys2876Asn)
c.4380G>T (p.Lys1460Asn)
c.7608G>T (p.Lys2536Asn)
8g.99819539T>ACA371776549VPS13Bc.8824T>A (p.Ser2942Thr)
n.8894T>A
c.*4506T>A (n.*4506T>A)
c.8749T>A (p.Ser2917Thr)
c.8821T>A (p.Ser2941Thr)
c.8746T>A (p.Ser2916Thr)
c.8446T>A (p.Ser2816Thr)
c.5710T>A (p.Ser1904Thr)
c.4603T>A (p.Ser1535Thr)
c.8629T>A (p.Ser2877Thr)
c.4381T>A (p.Ser1461Thr)
c.7609T>A (p.Ser2537Thr)
8g.99819539T>CCA371776551VPS13Bc.8824T>C (p.Ser2942Pro)
n.8894T>C
c.*4506T>C (n.*4506T>C)
c.8749T>C (p.Ser2917Pro)
c.8821T>C (p.Ser2941Pro)
c.8746T>C (p.Ser2916Pro)
c.8446T>C (p.Ser2816Pro)
c.5710T>C (p.Ser1904Pro)
c.4603T>C (p.Ser1535Pro)
c.8629T>C (p.Ser2877Pro)
c.4381T>C (p.Ser1461Pro)
c.7609T>C (p.Ser2537Pro)
8g.99819539T>GCA371776553VPS13Bc.8824T>G (p.Ser2942Ala)
n.8894T>G
c.*4506T>G (n.*4506T>G)
c.8749T>G (p.Ser2917Ala)
c.8821T>G (p.Ser2941Ala)
c.8746T>G (p.Ser2916Ala)
c.8446T>G (p.Ser2816Ala)
c.5710T>G (p.Ser1904Ala)
c.4603T>G (p.Ser1535Ala)
c.8629T>G (p.Ser2877Ala)
c.4381T>G (p.Ser1461Ala)
c.7609T>G (p.Ser2537Ala)
8g.99819540C>ACA371776554VPS13Bc.8825C>A (p.Ser2942Ter)
n.8895C>A
c.*4507C>A (n.*4507C>A)
c.8750C>A (p.Ser2917Ter)
c.8822C>A (p.Ser2941Ter)
c.8747C>A (p.Ser2916Ter)
c.8447C>A (p.Ser2816Ter)
c.5711C>A (p.Ser1904Ter)
c.4604C>A (p.Ser1535Ter)
c.8630C>A (p.Ser2877Ter)
c.4382C>A (p.Ser1461Ter)
c.7610C>A (p.Ser2537Ter)
 ClinVar gnomAD v4
8g.99819540C>GCA371776555VPS13Bc.8825C>G (p.Ser2942Trp)
n.8895C>G
c.*4507C>G (n.*4507C>G)
c.8750C>G (p.Ser2917Trp)
c.8822C>G (p.Ser2941Trp)
c.8747C>G (p.Ser2916Trp)
c.8447C>G (p.Ser2816Trp)
c.5711C>G (p.Ser1904Trp)
c.4604C>G (p.Ser1535Trp)
c.8630C>G (p.Ser2877Trp)
c.4382C>G (p.Ser1461Trp)
c.7610C>G (p.Ser2537Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819540C>TCA4824537VPS13Bc.8825C>T (p.Ser2942Leu)
n.8895C>T
c.*4507C>T (n.*4507C>T)
c.8750C>T (p.Ser2917Leu)
c.8822C>T (p.Ser2941Leu)
c.8747C>T (p.Ser2916Leu)
c.8447C>T (p.Ser2816Leu)
c.5711C>T (p.Ser1904Leu)
c.4604C>T (p.Ser1535Leu)
c.8630C>T (p.Ser2877Leu)
c.4382C>T (p.Ser1461Leu)
c.7610C>T (p.Ser2537Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819541G>ACA4824538VPS13Bc.8826G>A (p.Ser2942=)
n.8896G>A
c.*4508G>A (n.*4508G>A)
c.8751G>A (p.Ser2917=)
c.8823G>A (p.Ser2941=)
c.8748G>A (p.Ser2916=)
c.8448G>A (p.Ser2816=)
c.5712G>A (p.Ser1904=)
c.4605G>A (p.Ser1535=)
c.8631G>A (p.Ser2877=)
c.4383G>A (p.Ser1461=)
c.7611G>A (p.Ser2537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819541G>CCA462339516VPS13Bc.8826G>C (p.Ser2942=)
n.8896G>C
c.*4508G>C (n.*4508G>C)
c.8751G>C (p.Ser2917=)
c.8823G>C (p.Ser2941=)
c.8748G>C (p.Ser2916=)
c.8448G>C (p.Ser2816=)
c.5712G>C (p.Ser1904=)
c.4605G>C (p.Ser1535=)
c.8631G>C (p.Ser2877=)
c.4383G>C (p.Ser1461=)
c.7611G>C (p.Ser2537=)
8g.99819541G>TCA462339517VPS13Bc.8826G>T (p.Ser2942=)
n.8896G>T
c.*4508G>T (n.*4508G>T)
c.8751G>T (p.Ser2917=)
c.8823G>T (p.Ser2941=)
c.8748G>T (p.Ser2916=)
c.8448G>T (p.Ser2816=)
c.5712G>T (p.Ser1904=)
c.4605G>T (p.Ser1535=)
c.8631G>T (p.Ser2877=)
c.4383G>T (p.Ser1461=)
c.7611G>T (p.Ser2537=)
 ClinVar dbSNP gnomAD v4
8g.99819542C>ACA371776562VPS13Bc.8827C>A (p.Leu2943Ile)
n.8897C>A
c.*4509C>A (n.*4509C>A)
c.8752C>A (p.Leu2918Ile)
c.8824C>A (p.Leu2942Ile)
c.8749C>A (p.Leu2917Ile)
c.8449C>A (p.Leu2817Ile)
c.5713C>A (p.Leu1905Ile)
c.4606C>A (p.Leu1536Ile)
c.8632C>A (p.Leu2878Ile)
c.4384C>A (p.Leu1462Ile)
c.7612C>A (p.Leu2538Ile)
8g.99819542C>GCA371776559VPS13Bc.8827C>G (p.Leu2943Val)
n.8897C>G
c.*4509C>G (n.*4509C>G)
c.8752C>G (p.Leu2918Val)
c.8824C>G (p.Leu2942Val)
c.8749C>G (p.Leu2917Val)
c.8449C>G (p.Leu2817Val)
c.5713C>G (p.Leu1905Val)
c.4606C>G (p.Leu1536Val)
c.8632C>G (p.Leu2878Val)
c.4384C>G (p.Leu1462Val)
c.7612C>G (p.Leu2538Val)
8g.99819542C>TCA371776560VPS13Bc.8827C>T (p.Leu2943Phe)
n.8897C>T
c.*4509C>T (n.*4509C>T)
c.8752C>T (p.Leu2918Phe)
c.8824C>T (p.Leu2942Phe)
c.8749C>T (p.Leu2917Phe)
c.8449C>T (p.Leu2817Phe)
c.5713C>T (p.Leu1905Phe)
c.4606C>T (p.Leu1536Phe)
c.8632C>T (p.Leu2878Phe)
c.4384C>T (p.Leu1462Phe)
c.7612C>T (p.Leu2538Phe)
 dbSNP
8g.99819543T>ACA371776565VPS13Bc.8828T>A (p.Leu2943His)
n.8898T>A
c.*4510T>A (n.*4510T>A)
c.8753T>A (p.Leu2918His)
c.8825T>A (p.Leu2942His)
c.8750T>A (p.Leu2917His)
c.8450T>A (p.Leu2817His)
c.5714T>A (p.Leu1905His)
c.4607T>A (p.Leu1536His)
c.8633T>A (p.Leu2878His)
c.4385T>A (p.Leu1462His)
c.7613T>A (p.Leu2538His)
8g.99819543T>CCA371776566VPS13Bc.8828T>C (p.Leu2943Pro)
n.8898T>C
c.*4510T>C (n.*4510T>C)
c.8753T>C (p.Leu2918Pro)
c.8825T>C (p.Leu2942Pro)
c.8750T>C (p.Leu2917Pro)
c.8450T>C (p.Leu2817Pro)
c.5714T>C (p.Leu1905Pro)
c.4607T>C (p.Leu1536Pro)
c.8633T>C (p.Leu2878Pro)
c.4385T>C (p.Leu1462Pro)
c.7613T>C (p.Leu2538Pro)
8g.99819543T>GCA371776568VPS13Bc.8828T>G (p.Leu2943Arg)
n.8898T>G
c.*4510T>G (n.*4510T>G)
c.8753T>G (p.Leu2918Arg)
c.8825T>G (p.Leu2942Arg)
c.8750T>G (p.Leu2917Arg)
c.8450T>G (p.Leu2817Arg)
c.5714T>G (p.Leu1905Arg)
c.4607T>G (p.Leu1536Arg)
c.8633T>G (p.Leu2878Arg)
c.4385T>G (p.Leu1462Arg)
c.7613T>G (p.Leu2538Arg)
8g.99819544T>ACA462339518VPS13Bc.8829T>A (p.Leu2943=)
n.8899T>A
c.*4511T>A (n.*4511T>A)
c.8754T>A (p.Leu2918=)
c.8826T>A (p.Leu2942=)
c.8751T>A (p.Leu2917=)
c.8451T>A (p.Leu2817=)
c.5715T>A (p.Leu1905=)
c.4608T>A (p.Leu1536=)
c.8634T>A (p.Leu2878=)
c.4386T>A (p.Leu1462=)
c.7614T>A (p.Leu2538=)
8g.99819544T>CCA462339519VPS13Bc.8829T>C (p.Leu2943=)
n.8899T>C
c.*4511T>C (n.*4511T>C)
c.8754T>C (p.Leu2918=)
c.8826T>C (p.Leu2942=)
c.8751T>C (p.Leu2917=)
c.8451T>C (p.Leu2817=)
c.5715T>C (p.Leu1905=)
c.4608T>C (p.Leu1536=)
c.8634T>C (p.Leu2878=)
c.4386T>C (p.Leu1462=)
c.7614T>C (p.Leu2538=)
8g.99819544T>GCA462339520VPS13Bc.8829T>G (p.Leu2943=)
n.8899T>G
c.*4511T>G (n.*4511T>G)
c.8754T>G (p.Leu2918=)
c.8826T>G (p.Leu2942=)
c.8751T>G (p.Leu2917=)
c.8451T>G (p.Leu2817=)
c.5715T>G (p.Leu1905=)
c.4608T>G (p.Leu1536=)
c.8634T>G (p.Leu2878=)
c.4386T>G (p.Leu1462=)
c.7614T>G (p.Leu2538=)
8g.99819545C>ACA371776571VPS13Bc.8830C>A (p.Gln2944Lys)
n.8900C>A
c.*4512C>A (n.*4512C>A)
c.8755C>A (p.Gln2919Lys)
c.8827C>A (p.Gln2943Lys)
c.8752C>A (p.Gln2918Lys)
c.8452C>A (p.Gln2818Lys)
c.5716C>A (p.Gln1906Lys)
c.4609C>A (p.Gln1537Lys)
c.8635C>A (p.Gln2879Lys)
c.4387C>A (p.Gln1463Lys)
c.7615C>A (p.Gln2539Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99819545C>GCA371776572VPS13Bc.8830C>G (p.Gln2944Glu)
n.8900C>G
c.*4512C>G (n.*4512C>G)
c.8755C>G (p.Gln2919Glu)
c.8827C>G (p.Gln2943Glu)
c.8752C>G (p.Gln2918Glu)
c.8452C>G (p.Gln2818Glu)
c.5716C>G (p.Gln1906Glu)
c.4609C>G (p.Gln1537Glu)
c.8635C>G (p.Gln2879Glu)
c.4387C>G (p.Gln1463Glu)
c.7615C>G (p.Gln2539Glu)
8g.99819545C>TCA371776573VPS13Bc.8830C>T (p.Gln2944Ter)
n.8900C>T
c.*4512C>T (n.*4512C>T)
c.8755C>T (p.Gln2919Ter)
c.8827C>T (p.Gln2943Ter)
c.8752C>T (p.Gln2918Ter)
c.8452C>T (p.Gln2818Ter)
c.5716C>T (p.Gln1906Ter)
c.4609C>T (p.Gln1537Ter)
c.8635C>T (p.Gln2879Ter)
c.4387C>T (p.Gln1463Ter)
c.7615C>T (p.Gln2539Ter)
8g.99819546A>CCA371776575VPS13Bc.8831A>C (p.Gln2944Pro)
n.8901A>C
c.*4513A>C (n.*4513A>C)
c.8756A>C (p.Gln2919Pro)
c.8828A>C (p.Gln2943Pro)
c.8753A>C (p.Gln2918Pro)
c.8453A>C (p.Gln2818Pro)
c.5717A>C (p.Gln1906Pro)
c.4610A>C (p.Gln1537Pro)
c.8636A>C (p.Gln2879Pro)
c.4388A>C (p.Gln1463Pro)
c.7616A>C (p.Gln2539Pro)
8g.99819546A>GCA182328759VPS13Bc.8831A>G (p.Gln2944Arg)
n.8901A>G
c.*4513A>G (n.*4513A>G)
c.8756A>G (p.Gln2919Arg)
c.8828A>G (p.Gln2943Arg)
c.8753A>G (p.Gln2918Arg)
c.8453A>G (p.Gln2818Arg)
c.5717A>G (p.Gln1906Arg)
c.4610A>G (p.Gln1537Arg)
c.8636A>G (p.Gln2879Arg)
c.4388A>G (p.Gln1463Arg)
c.7616A>G (p.Gln2539Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819546A>TCA371776577VPS13Bc.8831A>T (p.Gln2944Leu)
n.8901A>T
c.*4513A>T (n.*4513A>T)
c.8756A>T (p.Gln2919Leu)
c.8828A>T (p.Gln2943Leu)
c.8753A>T (p.Gln2918Leu)
c.8453A>T (p.Gln2818Leu)
c.5717A>T (p.Gln1906Leu)
c.4610A>T (p.Gln1537Leu)
c.8636A>T (p.Gln2879Leu)
c.4388A>T (p.Gln1463Leu)
c.7616A>T (p.Gln2539Leu)
8g.99819547A>CCA371776578VPS13Bc.8832A>C (p.Gln2944His)
n.8902A>C
c.*4514A>C (n.*4514A>C)
c.8757A>C (p.Gln2919His)
c.8829A>C (p.Gln2943His)
c.8754A>C (p.Gln2918His)
c.8454A>C (p.Gln2818His)
c.5718A>C (p.Gln1906His)
c.4611A>C (p.Gln1537His)
c.8637A>C (p.Gln2879His)
c.4389A>C (p.Gln1463His)
c.7617A>C (p.Gln2539His)
8g.99819547A>GCA462339521VPS13Bc.8832A>G (p.Gln2944=)
n.8902A>G
c.*4514A>G (n.*4514A>G)
c.8757A>G (p.Gln2919=)
c.8829A>G (p.Gln2943=)
c.8754A>G (p.Gln2918=)
c.8454A>G (p.Gln2818=)
c.5718A>G (p.Gln1906=)
c.4611A>G (p.Gln1537=)
c.8637A>G (p.Gln2879=)
c.4389A>G (p.Gln1463=)
c.7617A>G (p.Gln2539=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819547A>TCA371776580VPS13Bc.8832A>T (p.Gln2944His)
n.8902A>T
c.*4514A>T (n.*4514A>T)
c.8757A>T (p.Gln2919His)
c.8829A>T (p.Gln2943His)
c.8754A>T (p.Gln2918His)
c.8454A>T (p.Gln2818His)
c.5718A>T (p.Gln1906His)
c.4611A>T (p.Gln1537His)
c.8637A>T (p.Gln2879His)
c.4389A>T (p.Gln1463His)
c.7617A>T (p.Gln2539His)
8g.99819548C>ACA371776584VPS13Bc.8833C>A (p.Pro2945Thr)
n.8903C>A
c.*4515C>A (n.*4515C>A)
c.8758C>A (p.Pro2920Thr)
c.8830C>A (p.Pro2944Thr)
c.8755C>A (p.Pro2919Thr)
c.8455C>A (p.Pro2819Thr)
c.5719C>A (p.Pro1907Thr)
c.4612C>A (p.Pro1538Thr)
c.8638C>A (p.Pro2880Thr)
c.4390C>A (p.Pro1464Thr)
c.7618C>A (p.Pro2540Thr)
8g.99819548C>GCA371776582VPS13Bc.8833C>G (p.Pro2945Ala)
n.8903C>G
c.*4515C>G (n.*4515C>G)
c.8758C>G (p.Pro2920Ala)
c.8830C>G (p.Pro2944Ala)
c.8755C>G (p.Pro2919Ala)
c.8455C>G (p.Pro2819Ala)
c.5719C>G (p.Pro1907Ala)
c.4612C>G (p.Pro1538Ala)
c.8638C>G (p.Pro2880Ala)
c.4390C>G (p.Pro1464Ala)
c.7618C>G (p.Pro2540Ala)
8g.99819548C>TCA371776581VPS13Bc.8833C>T (p.Pro2945Ser)
n.8903C>T
c.*4515C>T (n.*4515C>T)
c.8758C>T (p.Pro2920Ser)
c.8830C>T (p.Pro2944Ser)
c.8755C>T (p.Pro2919Ser)
c.8455C>T (p.Pro2819Ser)
c.5719C>T (p.Pro1907Ser)
c.4612C>T (p.Pro1538Ser)
c.8638C>T (p.Pro2880Ser)
c.4390C>T (p.Pro1464Ser)
c.7618C>T (p.Pro2540Ser)
 ClinVar dbSNP gnomAD v4
8g.99819548_99819549insGAACA4824539VPS13Bc.8833_8834insGAA (p.Pro2945delinsArgThr)
n.8903_8904insGAA
c.*4515_*4516insGAA (n.*4515_*4516insGAA)
c.8758_8759insGAA (p.Pro2920delinsArgThr)
c.8830_8831insGAA (p.Pro2944delinsArgThr)
c.8755_8756insGAA (p.Pro2919delinsArgThr)
c.8455_8456insGAA (p.Pro2819delinsArgThr)
c.5719_5720insGAA (p.Pro1907delinsArgThr)
c.4612_4613insGAA (p.Pro1538delinsArgThr)
c.8638_8639insGAA (p.Pro2880delinsArgThr)
c.4390_4391insGAA (p.Pro1464delinsArgThr)
c.7618_7619insGAA (p.Pro2540delinsArgThr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819549C>ACA371776587VPS13Bc.8834C>A (p.Pro2945His)
n.8904C>A
c.*4516C>A (n.*4516C>A)
c.8759C>A (p.Pro2920His)
c.8831C>A (p.Pro2944His)
c.8756C>A (p.Pro2919His)
c.8456C>A (p.Pro2819His)
c.5720C>A (p.Pro1907His)
c.4613C>A (p.Pro1538His)
c.8639C>A (p.Pro2880His)
c.4391C>A (p.Pro1464His)
c.7619C>A (p.Pro2540His)
8g.99819549C>GCA371776592VPS13Bc.8834C>G (p.Pro2945Arg)
n.8904C>G
c.*4516C>G (n.*4516C>G)
c.8759C>G (p.Pro2920Arg)
c.8831C>G (p.Pro2944Arg)
c.8756C>G (p.Pro2919Arg)
c.8456C>G (p.Pro2819Arg)
c.5720C>G (p.Pro1907Arg)
c.4613C>G (p.Pro1538Arg)
c.8639C>G (p.Pro2880Arg)
c.4391C>G (p.Pro1464Arg)
c.7619C>G (p.Pro2540Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99819549C>TCA371776590VPS13Bc.8834C>T (p.Pro2945Leu)
n.8904C>T
c.*4516C>T (n.*4516C>T)
c.8759C>T (p.Pro2920Leu)
c.8831C>T (p.Pro2944Leu)
c.8756C>T (p.Pro2919Leu)
c.8456C>T (p.Pro2819Leu)
c.5720C>T (p.Pro1907Leu)
c.4613C>T (p.Pro1538Leu)
c.8639C>T (p.Pro2880Leu)
c.4391C>T (p.Pro1464Leu)
c.7619C>T (p.Pro2540Leu)
8g.99819550C>ACA462339524VPS13Bc.8835C>A (p.Pro2945=)
n.8905C>A
c.*4517C>A (n.*4517C>A)
c.8760C>A (p.Pro2920=)
c.8832C>A (p.Pro2944=)
c.8757C>A (p.Pro2919=)
c.8457C>A (p.Pro2819=)
c.5721C>A (p.Pro1907=)
c.4614C>A (p.Pro1538=)
c.8640C>A (p.Pro2880=)
c.4392C>A (p.Pro1464=)
c.7620C>A (p.Pro2540=)
 ClinVar
8g.99819550C>GCA462339522VPS13Bc.8835C>G (p.Pro2945=)
n.8905C>G
c.*4517C>G (n.*4517C>G)
c.8760C>G (p.Pro2920=)
c.8832C>G (p.Pro2944=)
c.8757C>G (p.Pro2919=)
c.8457C>G (p.Pro2819=)
c.5721C>G (p.Pro1907=)
c.4614C>G (p.Pro1538=)
c.8640C>G (p.Pro2880=)
c.4392C>G (p.Pro1464=)
c.7620C>G (p.Pro2540=)
 dbSNP gnomAD v2 gnomAD v4
8g.99819550C>TCA462339523VPS13Bc.8835C>T (p.Pro2945=)
n.8905C>T
c.*4517C>T (n.*4517C>T)
c.8760C>T (p.Pro2920=)
c.8832C>T (p.Pro2944=)
c.8757C>T (p.Pro2919=)
c.8457C>T (p.Pro2819=)
c.5721C>T (p.Pro1907=)
c.4614C>T (p.Pro1538=)
c.8640C>T (p.Pro2880=)
c.4392C>T (p.Pro1464=)
c.7620C>T (p.Pro2540=)
8g.99819551A>CCA371776594VPS13Bc.8836A>C (p.Ile2946Leu)
n.8906A>C
c.*4518A>C (n.*4518A>C)
c.8761A>C (p.Ile2921Leu)
c.8833A>C (p.Ile2945Leu)
c.8758A>C (p.Ile2920Leu)
c.8458A>C (p.Ile2820Leu)
c.5722A>C (p.Ile1908Leu)
c.4615A>C (p.Ile1539Leu)
c.8641A>C (p.Ile2881Leu)
c.4393A>C (p.Ile1465Leu)
c.7621A>C (p.Ile2541Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819551A>GCA371776596VPS13Bc.8836A>G (p.Ile2946Val)
n.8906A>G
c.*4518A>G (n.*4518A>G)
c.8761A>G (p.Ile2921Val)
c.8833A>G (p.Ile2945Val)
c.8758A>G (p.Ile2920Val)
c.8458A>G (p.Ile2820Val)
c.5722A>G (p.Ile1908Val)
c.4615A>G (p.Ile1539Val)
c.8641A>G (p.Ile2881Val)
c.4393A>G (p.Ile1465Val)
c.7621A>G (p.Ile2541Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819551A>TCA371776598VPS13Bc.8836A>T (p.Ile2946Leu)
n.8906A>T
c.*4518A>T (n.*4518A>T)
c.8761A>T (p.Ile2921Leu)
c.8833A>T (p.Ile2945Leu)
c.8758A>T (p.Ile2920Leu)
c.8458A>T (p.Ile2820Leu)
c.5722A>T (p.Ile1908Leu)
c.4615A>T (p.Ile1539Leu)
c.8641A>T (p.Ile2881Leu)
c.4393A>T (p.Ile1465Leu)
c.7621A>T (p.Ile2541Leu)
 COSMIC COSMIC
8g.99819552T>ACA371776600VPS13Bc.8837T>A (p.Ile2946Lys)
n.8907T>A
c.*4519T>A (n.*4519T>A)
c.8762T>A (p.Ile2921Lys)
c.8834T>A (p.Ile2945Lys)
c.8759T>A (p.Ile2920Lys)
c.8459T>A (p.Ile2820Lys)
c.5723T>A (p.Ile1908Lys)
c.4616T>A (p.Ile1539Lys)
c.8642T>A (p.Ile2881Lys)
c.4394T>A (p.Ile1465Lys)
c.7622T>A (p.Ile2541Lys)
8g.99819552T>CCA371776602VPS13Bc.8837T>C (p.Ile2946Thr)
n.8907T>C
c.*4519T>C (n.*4519T>C)
c.8762T>C (p.Ile2921Thr)
c.8834T>C (p.Ile2945Thr)
c.8759T>C (p.Ile2920Thr)
c.8459T>C (p.Ile2820Thr)
c.5723T>C (p.Ile1908Thr)
c.4616T>C (p.Ile1539Thr)
c.8642T>C (p.Ile2881Thr)
c.4394T>C (p.Ile1465Thr)
c.7622T>C (p.Ile2541Thr)
8g.99819552T>GCA371776604VPS13Bc.8837T>G (p.Ile2946Arg)
n.8907T>G
c.*4519T>G (n.*4519T>G)
c.8762T>G (p.Ile2921Arg)
c.8834T>G (p.Ile2945Arg)
c.8759T>G (p.Ile2920Arg)
c.8459T>G (p.Ile2820Arg)
c.5723T>G (p.Ile1908Arg)
c.4616T>G (p.Ile1539Arg)
c.8642T>G (p.Ile2881Arg)
c.4394T>G (p.Ile1465Arg)
c.7622T>G (p.Ile2541Arg)
8g.99819553A>CCA462339525VPS13Bc.8838A>C (p.Ile2946=)
n.8908A>C
c.*4520A>C (n.*4520A>C)
c.8763A>C (p.Ile2921=)
c.8835A>C (p.Ile2945=)
c.8760A>C (p.Ile2920=)
c.8460A>C (p.Ile2820=)
c.5724A>C (p.Ile1908=)
c.4617A>C (p.Ile1539=)
c.8643A>C (p.Ile2881=)
c.4395A>C (p.Ile1465=)
c.7623A>C (p.Ile2541=)
8g.99819553A>GCA371776605VPS13Bc.8838A>G (p.Ile2946Met)
n.8908A>G
c.*4520A>G (n.*4520A>G)
c.8763A>G (p.Ile2921Met)
c.8835A>G (p.Ile2945Met)
c.8760A>G (p.Ile2920Met)
c.8460A>G (p.Ile2820Met)
c.5724A>G (p.Ile1908Met)
c.4617A>G (p.Ile1539Met)
c.8643A>G (p.Ile2881Met)
c.4395A>G (p.Ile1465Met)
c.7623A>G (p.Ile2541Met)
 dbSNP gnomAD v4
8g.99819553A>TCA462339526VPS13Bc.8838A>T (p.Ile2946=)
n.8908A>T
c.*4520A>T (n.*4520A>T)
c.8763A>T (p.Ile2921=)
c.8835A>T (p.Ile2945=)
c.8760A>T (p.Ile2920=)
c.8460A>T (p.Ile2820=)
c.5724A>T (p.Ile1908=)
c.4617A>T (p.Ile1539=)
c.8643A>T (p.Ile2881=)
c.4395A>T (p.Ile1465=)
c.7623A>T (p.Ile2541=)
8g.99819554T>ACA4824540VPS13Bc.8839T>A (p.Trp2947Arg)
n.8909T>A
c.*4521T>A (n.*4521T>A)
c.8764T>A (p.Trp2922Arg)
c.8836T>A (p.Trp2946Arg)
c.8761T>A (p.Trp2921Arg)
c.8461T>A (p.Trp2821Arg)
c.5725T>A (p.Trp1909Arg)
c.4618T>A (p.Trp1540Arg)
c.8644T>A (p.Trp2882Arg)
c.4396T>A (p.Trp1466Arg)
c.7624T>A (p.Trp2542Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819554T>CCA371776608VPS13Bc.8839T>C (p.Trp2947Arg)
n.8909T>C
c.*4521T>C (n.*4521T>C)
c.8764T>C (p.Trp2922Arg)
c.8836T>C (p.Trp2946Arg)
c.8761T>C (p.Trp2921Arg)
c.8461T>C (p.Trp2821Arg)
c.5725T>C (p.Trp1909Arg)
c.4618T>C (p.Trp1540Arg)
c.8644T>C (p.Trp2882Arg)
c.4396T>C (p.Trp1466Arg)
c.7624T>C (p.Trp2542Arg)
8g.99819554T>GCA371776610VPS13Bc.8839T>G (p.Trp2947Gly)
n.8909T>G
c.*4521T>G (n.*4521T>G)
c.8764T>G (p.Trp2922Gly)
c.8836T>G (p.Trp2946Gly)
c.8761T>G (p.Trp2921Gly)
c.8461T>G (p.Trp2821Gly)
c.5725T>G (p.Trp1909Gly)
c.4618T>G (p.Trp1540Gly)
c.8644T>G (p.Trp2882Gly)
c.4396T>G (p.Trp1466Gly)
c.7624T>G (p.Trp2542Gly)
8g.99819555G>ACA371776615VPS13Bc.8840G>A (p.Trp2947Ter)
n.8910G>A
c.*4522G>A (n.*4522G>A)
c.8765G>A (p.Trp2922Ter)
c.8837G>A (p.Trp2946Ter)
c.8762G>A (p.Trp2921Ter)
c.8462G>A (p.Trp2821Ter)
c.5726G>A (p.Trp1909Ter)
c.4619G>A (p.Trp1540Ter)
c.8645G>A (p.Trp2882Ter)
c.4397G>A (p.Trp1466Ter)
c.7625G>A (p.Trp2542Ter)
8g.99819555G>CCA371776614VPS13Bc.8840G>C (p.Trp2947Ser)
n.8910G>C
c.*4522G>C (n.*4522G>C)
c.8765G>C (p.Trp2922Ser)
c.8837G>C (p.Trp2946Ser)
c.8762G>C (p.Trp2921Ser)
c.8462G>C (p.Trp2821Ser)
c.5726G>C (p.Trp1909Ser)
c.4619G>C (p.Trp1540Ser)
c.8645G>C (p.Trp2882Ser)
c.4397G>C (p.Trp1466Ser)
c.7625G>C (p.Trp2542Ser)
8g.99819555G>TCA4824541VPS13Bc.8840G>T (p.Trp2947Leu)
n.8910G>T
c.*4522G>T (n.*4522G>T)
c.8765G>T (p.Trp2922Leu)
c.8837G>T (p.Trp2946Leu)
c.8762G>T (p.Trp2921Leu)
c.8462G>T (p.Trp2821Leu)
c.5726G>T (p.Trp1909Leu)
c.4619G>T (p.Trp1540Leu)
c.8645G>T (p.Trp2882Leu)
c.4397G>T (p.Trp1466Leu)
c.7625G>T (p.Trp2542Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819556G>ACA371776618VPS13Bc.8841G>A (p.Trp2947Ter)
n.8911G>A
c.*4523G>A (n.*4523G>A)
c.8766G>A (p.Trp2922Ter)
c.8838G>A (p.Trp2946Ter)
c.8763G>A (p.Trp2921Ter)
c.8463G>A (p.Trp2821Ter)
c.5727G>A (p.Trp1909Ter)
c.4620G>A (p.Trp1540Ter)
c.8646G>A (p.Trp2882Ter)
c.4398G>A (p.Trp1466Ter)
c.7626G>A (p.Trp2542Ter)
 ClinVar dbSNP
8g.99819556G>CCA371776620VPS13Bc.8841G>C (p.Trp2947Cys)
n.8911G>C
c.*4523G>C (n.*4523G>C)
c.8766G>C (p.Trp2922Cys)
c.8838G>C (p.Trp2946Cys)
c.8763G>C (p.Trp2921Cys)
c.8463G>C (p.Trp2821Cys)
c.5727G>C (p.Trp1909Cys)
c.4620G>C (p.Trp1540Cys)
c.8646G>C (p.Trp2882Cys)
c.4398G>C (p.Trp1466Cys)
c.7626G>C (p.Trp2542Cys)
8g.99819556G>TCA371776621VPS13Bc.8841G>T (p.Trp2947Cys)
n.8911G>T
c.*4523G>T (n.*4523G>T)
c.8766G>T (p.Trp2922Cys)
c.8838G>T (p.Trp2946Cys)
c.8763G>T (p.Trp2921Cys)
c.8463G>T (p.Trp2821Cys)
c.5727G>T (p.Trp1909Cys)
c.4620G>T (p.Trp1540Cys)
c.8646G>T (p.Trp2882Cys)
c.4398G>T (p.Trp1466Cys)
c.7626G>T (p.Trp2542Cys)
8g.99819557C>ACA371776624VPS13Bc.8842C>A (p.Pro2948Thr)
n.8912C>A
c.*4524C>A (n.*4524C>A)
c.8767C>A (p.Pro2923Thr)
c.8839C>A (p.Pro2947Thr)
c.8764C>A (p.Pro2922Thr)
c.8464C>A (p.Pro2822Thr)
c.5728C>A (p.Pro1910Thr)
c.4621C>A (p.Pro1541Thr)
c.8647C>A (p.Pro2883Thr)
c.4399C>A (p.Pro1467Thr)
c.7627C>A (p.Pro2543Thr)
8g.99819557C>GCA371776626VPS13Bc.8842C>G (p.Pro2948Ala)
n.8912C>G
c.*4524C>G (n.*4524C>G)
c.8767C>G (p.Pro2923Ala)
c.8839C>G (p.Pro2947Ala)
c.8764C>G (p.Pro2922Ala)
c.8464C>G (p.Pro2822Ala)
c.5728C>G (p.Pro1910Ala)
c.4621C>G (p.Pro1541Ala)
c.8647C>G (p.Pro2883Ala)
c.4399C>G (p.Pro1467Ala)
c.7627C>G (p.Pro2543Ala)
 dbSNP gnomAD v4
8g.99819557C>TCA371776627VPS13Bc.8842C>T (p.Pro2948Ser)
n.8912C>T
c.*4524C>T (n.*4524C>T)
c.8767C>T (p.Pro2923Ser)
c.8839C>T (p.Pro2947Ser)
c.8764C>T (p.Pro2922Ser)
c.8464C>T (p.Pro2822Ser)
c.5728C>T (p.Pro1910Ser)
c.4621C>T (p.Pro1541Ser)
c.8647C>T (p.Pro2883Ser)
c.4399C>T (p.Pro1467Ser)
c.7627C>T (p.Pro2543Ser)
8g.99819558C>ACA371776628VPS13Bc.8843C>A (p.Pro2948His)
n.8913C>A
c.*4525C>A (n.*4525C>A)
c.8768C>A (p.Pro2923His)
c.8840C>A (p.Pro2947His)
c.8765C>A (p.Pro2922His)
c.8465C>A (p.Pro2822His)
c.5729C>A (p.Pro1910His)
c.4622C>A (p.Pro1541His)
c.8648C>A (p.Pro2883His)
c.4400C>A (p.Pro1467His)
c.7628C>A (p.Pro2543His)
8g.99819558C>GCA371776629VPS13Bc.8843C>G (p.Pro2948Arg)
n.8913C>G
c.*4525C>G (n.*4525C>G)
c.8768C>G (p.Pro2923Arg)
c.8840C>G (p.Pro2947Arg)
c.8765C>G (p.Pro2922Arg)
c.8465C>G (p.Pro2822Arg)
c.5729C>G (p.Pro1910Arg)
c.4622C>G (p.Pro1541Arg)
c.8648C>G (p.Pro2883Arg)
c.4400C>G (p.Pro1467Arg)
c.7628C>G (p.Pro2543Arg)
8g.99819558C>TCA371776631VPS13Bc.8843C>T (p.Pro2948Leu)
n.8913C>T
c.*4525C>T (n.*4525C>T)
c.8768C>T (p.Pro2923Leu)
c.8840C>T (p.Pro2947Leu)
c.8765C>T (p.Pro2922Leu)
c.8465C>T (p.Pro2822Leu)
c.5729C>T (p.Pro1910Leu)
c.4622C>T (p.Pro1541Leu)
c.8648C>T (p.Pro2883Leu)
c.4400C>T (p.Pro1467Leu)
c.7628C>T (p.Pro2543Leu)
8g.99819559C>ACA462339528VPS13Bc.8844C>A (p.Pro2948=)
n.8914C>A
c.*4526C>A (n.*4526C>A)
c.8769C>A (p.Pro2923=)
c.8841C>A (p.Pro2947=)
c.8766C>A (p.Pro2922=)
c.8466C>A (p.Pro2822=)
c.5730C>A (p.Pro1910=)
c.4623C>A (p.Pro1541=)
c.8649C>A (p.Pro2883=)
c.4401C>A (p.Pro1467=)
c.7629C>A (p.Pro2543=)
8g.99819559C>GCA462339529VPS13Bc.8844C>G (p.Pro2948=)
n.8914C>G
c.*4526C>G (n.*4526C>G)
c.8769C>G (p.Pro2923=)
c.8841C>G (p.Pro2947=)
c.8766C>G (p.Pro2922=)
c.8466C>G (p.Pro2822=)
c.5730C>G (p.Pro1910=)
c.4623C>G (p.Pro1541=)
c.8649C>G (p.Pro2883=)
c.4401C>G (p.Pro1467=)
c.7629C>G (p.Pro2543=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819559C>TCA462339527VPS13Bc.8844C>T (p.Pro2948=)
n.8914C>T
c.*4526C>T (n.*4526C>T)
c.8769C>T (p.Pro2923=)
c.8841C>T (p.Pro2947=)
c.8766C>T (p.Pro2922=)
c.8466C>T (p.Pro2822=)
c.5730C>T (p.Pro1910=)
c.4623C>T (p.Pro1541=)
c.8649C>T (p.Pro2883=)
c.4401C>T (p.Pro1467=)
c.7629C>T (p.Pro2543=)
8g.99819560T>ACA371776633VPS13Bc.8845T>A (p.Tyr2949Asn)
n.8915T>A
c.*4527T>A (n.*4527T>A)
c.8770T>A (p.Tyr2924Asn)
c.8842T>A (p.Tyr2948Asn)
c.8767T>A (p.Tyr2923Asn)
c.8467T>A (p.Tyr2823Asn)
c.5731T>A (p.Tyr1911Asn)
c.4624T>A (p.Tyr1542Asn)
c.8650T>A (p.Tyr2884Asn)
c.4402T>A (p.Tyr1468Asn)
c.7630T>A (p.Tyr2544Asn)
8g.99819560T>CCA371776635VPS13Bc.8845T>C (p.Tyr2949His)
n.8915T>C
c.*4527T>C (n.*4527T>C)
c.8770T>C (p.Tyr2924His)
c.8842T>C (p.Tyr2948His)
c.8767T>C (p.Tyr2923His)
c.8467T>C (p.Tyr2823His)
c.5731T>C (p.Tyr1911His)
c.4624T>C (p.Tyr1542His)
c.8650T>C (p.Tyr2884His)
c.4402T>C (p.Tyr1468His)
c.7630T>C (p.Tyr2544His)
8g.99819560T>GCA371776637VPS13Bc.8845T>G (p.Tyr2949Asp)
n.8915T>G
c.*4527T>G (n.*4527T>G)
c.8770T>G (p.Tyr2924Asp)
c.8842T>G (p.Tyr2948Asp)
c.8767T>G (p.Tyr2923Asp)
c.8467T>G (p.Tyr2823Asp)
c.5731T>G (p.Tyr1911Asp)
c.4624T>G (p.Tyr1542Asp)
c.8650T>G (p.Tyr2884Asp)
c.4402T>G (p.Tyr1468Asp)
c.7630T>G (p.Tyr2544Asp)
8g.99819561A>CCA371776641VPS13Bc.8846A>C (p.Tyr2949Ser)
n.8916A>C
c.*4528A>C (n.*4528A>C)
c.8771A>C (p.Tyr2924Ser)
c.8843A>C (p.Tyr2948Ser)
c.8768A>C (p.Tyr2923Ser)
c.8468A>C (p.Tyr2823Ser)
c.5732A>C (p.Tyr1911Ser)
c.4625A>C (p.Tyr1542Ser)
c.8651A>C (p.Tyr2884Ser)
c.4403A>C (p.Tyr1468Ser)
c.7631A>C (p.Tyr2544Ser)
8g.99819561A>GCA182328763VPS13Bc.8846A>G (p.Tyr2949Cys)
n.8916A>G
c.*4528A>G (n.*4528A>G)
c.8771A>G (p.Tyr2924Cys)
c.8843A>G (p.Tyr2948Cys)
c.8768A>G (p.Tyr2923Cys)
c.8468A>G (p.Tyr2823Cys)
c.5732A>G (p.Tyr1911Cys)
c.4625A>G (p.Tyr1542Cys)
c.8651A>G (p.Tyr2884Cys)
c.4403A>G (p.Tyr1468Cys)
c.7631A>G (p.Tyr2544Cys)
 dbSNP gnomAD v4
8g.99819561A>TCA371776639VPS13Bc.8846A>T (p.Tyr2949Phe)
n.8916A>T
c.*4528A>T (n.*4528A>T)
c.8771A>T (p.Tyr2924Phe)
c.8843A>T (p.Tyr2948Phe)
c.8768A>T (p.Tyr2923Phe)
c.8468A>T (p.Tyr2823Phe)
c.5732A>T (p.Tyr1911Phe)
c.4625A>T (p.Tyr1542Phe)
c.8651A>T (p.Tyr2884Phe)
c.4403A>T (p.Tyr1468Phe)
c.7631A>T (p.Tyr2544Phe)
8g.99819565_99819567delCA2688070108VPS13Bc.8850_8852del (p.Asn2950del)
n.8920_8922del
c.*4532_*4534del (n.*4532_*4534del)
c.8775_8777del (p.Asn2925del)
c.8847_8849del (p.Asn2949del)
c.8772_8774del (p.Asn2924del)
c.8472_8474del (p.Asn2824del)
c.5736_5738del (p.Asn1912del)
c.4629_4631del (p.Asn1543del)
c.8655_8657del (p.Asn2885del)
c.4407_4409del (p.Asn1469del)
c.7635_7637del (p.Asn2545del)
 gnomAD v4
8g.99819561_99819562insCTCA2781476116VPS13Bc.8846_8847insCT (p.Asn2950LeufsTer12)
n.8916_8917insCT
c.*4528_*4529insCT (n.*4528_*4529insCT)
c.8771_8772insCT (p.Asn2925LeufsTer12)
c.8843_8844insCT (p.Asn2949LeufsTer12)
c.8768_8769insCT (p.Asn2924LeufsTer12)
c.8468_8469insCT (p.Asn2824LeufsTer12)
c.5732_5733insCT (p.Asn1912LeufsTer12)
c.4625_4626insCT (p.Asn1543LeufsTer12)
c.8651_8652insCT (p.Asn2885LeufsTer12)
c.4403_4404insCT (p.Asn1469LeufsTer12)
c.7631_7632insCT (p.Asn2545LeufsTer12)
8g.99819562T>ACA371776644VPS13Bc.8847T>A (p.Tyr2949Ter)
n.8917T>A
c.*4529T>A (n.*4529T>A)
c.8772T>A (p.Tyr2924Ter)
c.8844T>A (p.Tyr2948Ter)
c.8769T>A (p.Tyr2923Ter)
c.8469T>A (p.Tyr2823Ter)
c.5733T>A (p.Tyr1911Ter)
c.4626T>A (p.Tyr1542Ter)
c.8652T>A (p.Tyr2884Ter)
c.4404T>A (p.Tyr1468Ter)
c.7632T>A (p.Tyr2544Ter)
8g.99819562T>CCA462339530VPS13Bc.8847T>C (p.Tyr2949=)
n.8917T>C
c.*4529T>C (n.*4529T>C)
c.8772T>C (p.Tyr2924=)
c.8844T>C (p.Tyr2948=)
c.8769T>C (p.Tyr2923=)
c.8469T>C (p.Tyr2823=)
c.5733T>C (p.Tyr1911=)
c.4626T>C (p.Tyr1542=)
c.8652T>C (p.Tyr2884=)
c.4404T>C (p.Tyr1468=)
c.7632T>C (p.Tyr2544=)
 dbSNP
8g.99819562T>GCA371776646VPS13Bc.8847T>G (p.Tyr2949Ter)
n.8917T>G
c.*4529T>G (n.*4529T>G)
c.8772T>G (p.Tyr2924Ter)
c.8844T>G (p.Tyr2948Ter)
c.8769T>G (p.Tyr2923Ter)
c.8469T>G (p.Tyr2823Ter)
c.5733T>G (p.Tyr1911Ter)
c.4626T>G (p.Tyr1542Ter)
c.8652T>G (p.Tyr2884Ter)
c.4404T>G (p.Tyr1468Ter)
c.7632T>G (p.Tyr2544Ter)
8g.99819563A>CCA371776648VPS13Bc.8848A>C (p.Asn2950His)
n.8918A>C
c.*4530A>C (n.*4530A>C)
c.8773A>C (p.Asn2925His)
c.8845A>C (p.Asn2949His)
c.8770A>C (p.Asn2924His)
c.8470A>C (p.Asn2824His)
c.5734A>C (p.Asn1912His)
c.4627A>C (p.Asn1543His)
c.8653A>C (p.Asn2885His)
c.4405A>C (p.Asn1469His)
c.7633A>C (p.Asn2545His)
8g.99819563A>GCA371776650VPS13Bc.8848A>G (p.Asn2950Asp)
n.8918A>G
c.*4530A>G (n.*4530A>G)
c.8773A>G (p.Asn2925Asp)
c.8845A>G (p.Asn2949Asp)
c.8770A>G (p.Asn2924Asp)
c.8470A>G (p.Asn2824Asp)
c.5734A>G (p.Asn1912Asp)
c.4627A>G (p.Asn1543Asp)
c.8653A>G (p.Asn2885Asp)
c.4405A>G (p.Asn1469Asp)
c.7633A>G (p.Asn2545Asp)
 gnomAD v4
8g.99819563A>TCA371776651VPS13Bc.8848A>T (p.Asn2950Tyr)
n.8918A>T
c.*4530A>T (n.*4530A>T)
c.8773A>T (p.Asn2925Tyr)
c.8845A>T (p.Asn2949Tyr)
c.8770A>T (p.Asn2924Tyr)
c.8470A>T (p.Asn2824Tyr)
c.5734A>T (p.Asn1912Tyr)
c.4627A>T (p.Asn1543Tyr)
c.8653A>T (p.Asn2885Tyr)
c.4405A>T (p.Asn1469Tyr)
c.7633A>T (p.Asn2545Tyr)
8g.99819564A>CCA371776655VPS13Bc.8849A>C (p.Asn2950Thr)
n.8919A>C
c.*4531A>C (n.*4531A>C)
c.8774A>C (p.Asn2925Thr)
c.8846A>C (p.Asn2949Thr)
c.8771A>C (p.Asn2924Thr)
c.8471A>C (p.Asn2824Thr)
c.5735A>C (p.Asn1912Thr)
c.4628A>C (p.Asn1543Thr)
c.8654A>C (p.Asn2885Thr)
c.4406A>C (p.Asn1469Thr)
c.7634A>C (p.Asn2545Thr)
8g.99819564A>GCA4824542VPS13Bc.8849A>G (p.Asn2950Ser)
n.8919A>G
c.*4531A>G (n.*4531A>G)
c.8774A>G (p.Asn2925Ser)
c.8846A>G (p.Asn2949Ser)
c.8771A>G (p.Asn2924Ser)
c.8471A>G (p.Asn2824Ser)
c.5735A>G (p.Asn1912Ser)
c.4628A>G (p.Asn1543Ser)
c.8654A>G (p.Asn2885Ser)
c.4406A>G (p.Asn1469Ser)
c.7634A>G (p.Asn2545Ser)
 dbSNP ExAC gnomAD v4
8g.99819564A>TCA371776653VPS13Bc.8849A>T (p.Asn2950Ile)
n.8919A>T
c.*4531A>T (n.*4531A>T)
c.8774A>T (p.Asn2925Ile)
c.8846A>T (p.Asn2949Ile)
c.8771A>T (p.Asn2924Ile)
c.8471A>T (p.Asn2824Ile)
c.5735A>T (p.Asn1912Ile)
c.4628A>T (p.Asn1543Ile)
c.8654A>T (p.Asn2885Ile)
c.4406A>T (p.Asn1469Ile)
c.7634A>T (p.Asn2545Ile)
8g.99819565T>ACA371776656VPS13Bc.8850T>A (p.Asn2950Lys)
n.8920T>A
c.*4532T>A (n.*4532T>A)
c.8775T>A (p.Asn2925Lys)
c.8847T>A (p.Asn2949Lys)
c.8772T>A (p.Asn2924Lys)
c.8472T>A (p.Asn2824Lys)
c.5736T>A (p.Asn1912Lys)
c.4629T>A (p.Asn1543Lys)
c.8655T>A (p.Asn2885Lys)
c.4407T>A (p.Asn1469Lys)
c.7635T>A (p.Asn2545Lys)
8g.99819565T>CCA462339531VPS13Bc.8850T>C (p.Asn2950=)
n.8920T>C
c.*4532T>C (n.*4532T>C)
c.8775T>C (p.Asn2925=)
c.8847T>C (p.Asn2949=)
c.8772T>C (p.Asn2924=)
c.8472T>C (p.Asn2824=)
c.5736T>C (p.Asn1912=)
c.4629T>C (p.Asn1543=)
c.8655T>C (p.Asn2885=)
c.4407T>C (p.Asn1469=)
c.7635T>C (p.Asn2545=)
8g.99819565T>GCA371776657VPS13Bc.8850T>G (p.Asn2950Lys)
n.8920T>G
c.*4532T>G (n.*4532T>G)
c.8775T>G (p.Asn2925Lys)
c.8847T>G (p.Asn2949Lys)
c.8772T>G (p.Asn2924Lys)
c.8472T>G (p.Asn2824Lys)
c.5736T>G (p.Asn1912Lys)
c.4629T>G (p.Asn1543Lys)
c.8655T>G (p.Asn2885Lys)
c.4407T>G (p.Asn1469Lys)
c.7635T>G (p.Asn2545Lys)
 gnomAD v4
8g.99819566A>CCA371776662VPS13Bc.8851A>C (p.Lys2951Gln)
n.8921A>C
c.*4533A>C (n.*4533A>C)
c.8776A>C (p.Lys2926Gln)
c.8848A>C (p.Lys2950Gln)
c.8773A>C (p.Lys2925Gln)
c.8473A>C (p.Lys2825Gln)
c.5737A>C (p.Lys1913Gln)
c.4630A>C (p.Lys1544Gln)
c.8656A>C (p.Lys2886Gln)
c.4408A>C (p.Lys1470Gln)
c.7636A>C (p.Lys2546Gln)
8g.99819566A>GCA371776663VPS13Bc.8851A>G (p.Lys2951Glu)
n.8921A>G
c.*4533A>G (n.*4533A>G)
c.8776A>G (p.Lys2926Glu)
c.8848A>G (p.Lys2950Glu)
c.8773A>G (p.Lys2925Glu)
c.8473A>G (p.Lys2825Glu)
c.5737A>G (p.Lys1913Glu)
c.4630A>G (p.Lys1544Glu)
c.8656A>G (p.Lys2886Glu)
c.4408A>G (p.Lys1470Glu)
c.7636A>G (p.Lys2546Glu)
8g.99819566A>TCA371776664VPS13Bc.8851A>T (p.Lys2951Ter)
n.8921A>T
c.*4533A>T (n.*4533A>T)
c.8776A>T (p.Lys2926Ter)
c.8848A>T (p.Lys2950Ter)
c.8773A>T (p.Lys2925Ter)
c.8473A>T (p.Lys2825Ter)
c.5737A>T (p.Lys1913Ter)
c.4630A>T (p.Lys1544Ter)
c.8656A>T (p.Lys2886Ter)
c.4408A>T (p.Lys1470Ter)
c.7636A>T (p.Lys2546Ter)
8g.99819569_99819571delCA4824543VPS13Bc.8854_8856del (p.Lys2952del)
n.8924_8926del
c.*4536_*4538del (n.*4536_*4538del)
c.8779_8781del (p.Lys2927del)
c.8851_8853del (p.Lys2951del)
c.8776_8778del (p.Lys2926del)
c.8476_8478del (p.Lys2826del)
c.5740_5742del (p.Lys1914del)
c.4633_4635del (p.Lys1545del)
c.8659_8661del (p.Lys2887del)
c.4411_4413del (p.Lys1471del)
c.7639_7641del (p.Lys2547del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819567A>CCA371776672VPS13Bc.8852A>C (p.Lys2951Thr)
n.8922A>C
c.*4534A>C (n.*4534A>C)
c.8777A>C (p.Lys2926Thr)
c.8849A>C (p.Lys2950Thr)
c.8774A>C (p.Lys2925Thr)
c.8474A>C (p.Lys2825Thr)
c.5738A>C (p.Lys1913Thr)
c.4631A>C (p.Lys1544Thr)
c.8657A>C (p.Lys2886Thr)
c.4409A>C (p.Lys1470Thr)
c.7637A>C (p.Lys2546Thr)
8g.99819567A>GCA371776676VPS13Bc.8852A>G (p.Lys2951Arg)
n.8922A>G
c.*4534A>G (n.*4534A>G)
c.8777A>G (p.Lys2926Arg)
c.8849A>G (p.Lys2950Arg)
c.8774A>G (p.Lys2925Arg)
c.8474A>G (p.Lys2825Arg)
c.5738A>G (p.Lys1913Arg)
c.4631A>G (p.Lys1544Arg)
c.8657A>G (p.Lys2886Arg)
c.4409A>G (p.Lys1470Arg)
c.7637A>G (p.Lys2546Arg)
8g.99819567A>TCA371776674VPS13Bc.8852A>T (p.Lys2951Met)
n.8922A>T
c.*4534A>T (n.*4534A>T)
c.8777A>T (p.Lys2926Met)
c.8849A>T (p.Lys2950Met)
c.8774A>T (p.Lys2925Met)
c.8474A>T (p.Lys2825Met)
c.5738A>T (p.Lys1913Met)
c.4631A>T (p.Lys1544Met)
c.8657A>T (p.Lys2886Met)
c.4409A>T (p.Lys1470Met)
c.7637A>T (p.Lys2546Met)
8g.99819568G>ACA462339532VPS13Bc.8853G>A (p.Lys2951=)
n.8923G>A
c.*4535G>A (n.*4535G>A)
c.8778G>A (p.Lys2926=)
c.8850G>A (p.Lys2950=)
c.8775G>A (p.Lys2925=)
c.8475G>A (p.Lys2825=)
c.5739G>A (p.Lys1913=)
c.4632G>A (p.Lys1544=)
c.8658G>A (p.Lys2886=)
c.4410G>A (p.Lys1470=)
c.7638G>A (p.Lys2546=)
8g.99819568G>CCA371776678VPS13Bc.8853G>C (p.Lys2951Asn)
n.8923G>C
c.*4535G>C (n.*4535G>C)
c.8778G>C (p.Lys2926Asn)
c.8850G>C (p.Lys2950Asn)
c.8775G>C (p.Lys2925Asn)
c.8475G>C (p.Lys2825Asn)
c.5739G>C (p.Lys1913Asn)
c.4632G>C (p.Lys1544Asn)
c.8658G>C (p.Lys2886Asn)
c.4410G>C (p.Lys1470Asn)
c.7638G>C (p.Lys2546Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.99819568G>TCA371776680VPS13Bc.8853G>T (p.Lys2951Asn)
n.8923G>T
c.*4535G>T (n.*4535G>T)
c.8778G>T (p.Lys2926Asn)
c.8850G>T (p.Lys2950Asn)
c.8775G>T (p.Lys2925Asn)
c.8475G>T (p.Lys2825Asn)
c.5739G>T (p.Lys1913Asn)
c.4632G>T (p.Lys1544Asn)
c.8658G>T (p.Lys2886Asn)
c.4410G>T (p.Lys1470Asn)
c.7638G>T (p.Lys2546Asn)
 dbSNP
8g.99819569A>CCA371776683VPS13Bc.8854A>C (p.Lys2952Gln)
n.8924A>C
c.*4536A>C (n.*4536A>C)
c.8779A>C (p.Lys2927Gln)
c.8851A>C (p.Lys2951Gln)
c.8776A>C (p.Lys2926Gln)
c.8476A>C (p.Lys2826Gln)
c.5740A>C (p.Lys1914Gln)
c.4633A>C (p.Lys1545Gln)
c.8659A>C (p.Lys2887Gln)
c.4411A>C (p.Lys1471Gln)
c.7639A>C (p.Lys2547Gln)
8g.99819569A>GCA371776685VPS13Bc.8854A>G (p.Lys2952Glu)
n.8924A>G
c.*4536A>G (n.*4536A>G)
c.8779A>G (p.Lys2927Glu)
c.8851A>G (p.Lys2951Glu)
c.8776A>G (p.Lys2926Glu)
c.8476A>G (p.Lys2826Glu)
c.5740A>G (p.Lys1914Glu)
c.4633A>G (p.Lys1545Glu)
c.8659A>G (p.Lys2887Glu)
c.4411A>G (p.Lys1471Glu)
c.7639A>G (p.Lys2547Glu)
 ClinVar
8g.99819569A>TCA371776686VPS13Bc.8854A>T (p.Lys2952Ter)
n.8924A>T
c.*4536A>T (n.*4536A>T)
c.8779A>T (p.Lys2927Ter)
c.8851A>T (p.Lys2951Ter)
c.8776A>T (p.Lys2926Ter)
c.8476A>T (p.Lys2826Ter)
c.5740A>T (p.Lys1914Ter)
c.4633A>T (p.Lys1545Ter)
c.8659A>T (p.Lys2887Ter)
c.4411A>T (p.Lys1471Ter)
c.7639A>T (p.Lys2547Ter)
8g.99819570A>CCA371776687VPS13Bc.8855A>C (p.Lys2952Thr)
n.8925A>C
c.*4537A>C (n.*4537A>C)
c.8780A>C (p.Lys2927Thr)
c.8852A>C (p.Lys2951Thr)
c.8777A>C (p.Lys2926Thr)
c.8477A>C (p.Lys2826Thr)
c.5741A>C (p.Lys1914Thr)
c.4634A>C (p.Lys1545Thr)
c.8660A>C (p.Lys2887Thr)
c.4412A>C (p.Lys1471Thr)
c.7640A>C (p.Lys2547Thr)
8g.99819570A>GCA371776689VPS13Bc.8855A>G (p.Lys2952Arg)
n.8925A>G
c.*4537A>G (n.*4537A>G)
c.8780A>G (p.Lys2927Arg)
c.8852A>G (p.Lys2951Arg)
c.8777A>G (p.Lys2926Arg)
c.8477A>G (p.Lys2826Arg)
c.5741A>G (p.Lys1914Arg)
c.4634A>G (p.Lys1545Arg)
c.8660A>G (p.Lys2887Arg)
c.4412A>G (p.Lys1471Arg)
c.7640A>G (p.Lys2547Arg)
 gnomAD v4
8g.99819570A>TCA371776691VPS13Bc.8855A>T (p.Lys2952Met)
n.8925A>T
c.*4537A>T (n.*4537A>T)
c.8780A>T (p.Lys2927Met)
c.8852A>T (p.Lys2951Met)
c.8777A>T (p.Lys2926Met)
c.8477A>T (p.Lys2826Met)
c.5741A>T (p.Lys1914Met)
c.4634A>T (p.Lys1545Met)
c.8660A>T (p.Lys2887Met)
c.4412A>T (p.Lys1471Met)
c.7640A>T (p.Lys2547Met)
8g.99819571G>ACA462339533VPS13Bc.8856G>A (p.Lys2952=)
n.8926G>A
c.*4538G>A (n.*4538G>A)
c.8781G>A (p.Lys2927=)
c.8853G>A (p.Lys2951=)
c.8778G>A (p.Lys2926=)
c.8478G>A (p.Lys2826=)
c.5742G>A (p.Lys1914=)
c.4635G>A (p.Lys1545=)
c.8661G>A (p.Lys2887=)
c.4413G>A (p.Lys1471=)
c.7641G>A (p.Lys2547=)
8g.99819571G>CCA371776694VPS13Bc.8856G>C (p.Lys2952Asn)
n.8926G>C
c.*4538G>C (n.*4538G>C)
c.8781G>C (p.Lys2927Asn)
c.8853G>C (p.Lys2951Asn)
c.8778G>C (p.Lys2926Asn)
c.8478G>C (p.Lys2826Asn)
c.5742G>C (p.Lys1914Asn)
c.4635G>C (p.Lys1545Asn)
c.8661G>C (p.Lys2887Asn)
c.4413G>C (p.Lys1471Asn)
c.7641G>C (p.Lys2547Asn)
8g.99819571G>TCA371776697VPS13Bc.8856G>T (p.Lys2952Asn)
n.8926G>T
c.*4538G>T (n.*4538G>T)
c.8781G>T (p.Lys2927Asn)
c.8853G>T (p.Lys2951Asn)
c.8778G>T (p.Lys2926Asn)
c.8478G>T (p.Lys2826Asn)
c.5742G>T (p.Lys1914Asn)
c.4635G>T (p.Lys1545Asn)
c.8661G>T (p.Lys2887Asn)
c.4413G>T (p.Lys1471Asn)
c.7641G>T (p.Lys2547Asn)
8g.99819572G>ACA371776710VPS13Bc.8857G>A (p.Asp2953Asn)
n.8927G>A
c.*4539G>A (n.*4539G>A)
c.8782G>A (p.Asp2928Asn)
c.8854G>A (p.Asp2952Asn)
c.8779G>A (p.Asp2927Asn)
c.8479G>A (p.Asp2827Asn)
c.5743G>A (p.Asp1915Asn)
c.4636G>A (p.Asp1546Asn)
c.8662G>A (p.Asp2888Asn)
c.4414G>A (p.Asp1472Asn)
c.7642G>A (p.Asp2548Asn)
8g.99819572G>CCA371776712VPS13Bc.8857G>C (p.Asp2953His)
n.8927G>C
c.*4539G>C (n.*4539G>C)
c.8782G>C (p.Asp2928His)
c.8854G>C (p.Asp2952His)
c.8779G>C (p.Asp2927His)
c.8479G>C (p.Asp2827His)
c.5743G>C (p.Asp1915His)
c.4636G>C (p.Asp1546His)
c.8662G>C (p.Asp2888His)
c.4414G>C (p.Asp1472His)
c.7642G>C (p.Asp2548His)
8g.99819572G>TCA371776708VPS13Bc.8857G>T (p.Asp2953Tyr)
n.8927G>T
c.*4539G>T (n.*4539G>T)
c.8782G>T (p.Asp2928Tyr)
c.8854G>T (p.Asp2952Tyr)
c.8779G>T (p.Asp2927Tyr)
c.8479G>T (p.Asp2827Tyr)
c.5743G>T (p.Asp1915Tyr)
c.4636G>T (p.Asp1546Tyr)
c.8662G>T (p.Asp2888Tyr)
c.4414G>T (p.Asp1472Tyr)
c.7642G>T (p.Asp2548Tyr)
 dbSNP gnomAD v4
8g.99819573A>CCA371776713VPS13Bc.8858A>C (p.Asp2953Ala)
n.8928A>C
c.*4540A>C (n.*4540A>C)
c.8783A>C (p.Asp2928Ala)
c.8855A>C (p.Asp2952Ala)
c.8780A>C (p.Asp2927Ala)
c.8480A>C (p.Asp2827Ala)
c.5744A>C (p.Asp1915Ala)
c.4637A>C (p.Asp1546Ala)
c.8663A>C (p.Asp2888Ala)
c.4415A>C (p.Asp1472Ala)
c.7643A>C (p.Asp2548Ala)
8g.99819573A>GCA371776718VPS13Bc.8858A>G (p.Asp2953Gly)
n.8928A>G
c.*4540A>G (n.*4540A>G)
c.8783A>G (p.Asp2928Gly)
c.8855A>G (p.Asp2952Gly)
c.8780A>G (p.Asp2927Gly)
c.8480A>G (p.Asp2827Gly)
c.5744A>G (p.Asp1915Gly)
c.4637A>G (p.Asp1546Gly)
c.8663A>G (p.Asp2888Gly)
c.4415A>G (p.Asp1472Gly)
c.7643A>G (p.Asp2548Gly)
 gnomAD v4
8g.99819573A>TCA371776715VPS13Bc.8858A>T (p.Asp2953Val)
n.8928A>T
c.*4540A>T (n.*4540A>T)
c.8783A>T (p.Asp2928Val)
c.8855A>T (p.Asp2952Val)
c.8780A>T (p.Asp2927Val)
c.8480A>T (p.Asp2827Val)
c.5744A>T (p.Asp1915Val)
c.4637A>T (p.Asp1546Val)
c.8663A>T (p.Asp2888Val)
c.4415A>T (p.Asp1472Val)
c.7643A>T (p.Asp2548Val)
8g.99819574T>ACA371776722VPS13Bc.8859T>A (p.Asp2953Glu)
n.8929T>A
c.*4541T>A (n.*4541T>A)
c.8784T>A (p.Asp2928Glu)
c.8856T>A (p.Asp2952Glu)
c.8781T>A (p.Asp2927Glu)
c.8481T>A (p.Asp2827Glu)
c.5745T>A (p.Asp1915Glu)
c.4638T>A (p.Asp1546Glu)
c.8664T>A (p.Asp2888Glu)
c.4416T>A (p.Asp1472Glu)
c.7644T>A (p.Asp2548Glu)
8g.99819574T>CCA462339534VPS13Bc.8859T>C (p.Asp2953=)
n.8929T>C
c.*4541T>C (n.*4541T>C)
c.8784T>C (p.Asp2928=)
c.8856T>C (p.Asp2952=)
c.8781T>C (p.Asp2927=)
c.8481T>C (p.Asp2827=)
c.5745T>C (p.Asp1915=)
c.4638T>C (p.Asp1546=)
c.8664T>C (p.Asp2888=)
c.4416T>C (p.Asp1472=)
c.7644T>C (p.Asp2548=)
 ClinVar dbSNP
8g.99819574T>GCA371776724VPS13Bc.8859T>G (p.Asp2953Glu)
n.8929T>G
c.*4541T>G (n.*4541T>G)
c.8784T>G (p.Asp2928Glu)
c.8856T>G (p.Asp2952Glu)
c.8781T>G (p.Asp2927Glu)
c.8481T>G (p.Asp2827Glu)
c.5745T>G (p.Asp1915Glu)
c.4638T>G (p.Asp1546Glu)
c.8664T>G (p.Asp2888Glu)
c.4416T>G (p.Asp1472Glu)
c.7644T>G (p.Asp2548Glu)
8g.99819575T>ACA371776727VPS13Bc.8860T>A (p.Ser2954Thr)
n.8930T>A
c.*4542T>A (n.*4542T>A)
c.8785T>A (p.Ser2929Thr)
c.8857T>A (p.Ser2953Thr)
c.8782T>A (p.Ser2928Thr)
c.8482T>A (p.Ser2828Thr)
c.5746T>A (p.Ser1916Thr)
c.4639T>A (p.Ser1547Thr)
c.8665T>A (p.Ser2889Thr)
c.4417T>A (p.Ser1473Thr)
c.7645T>A (p.Ser2549Thr)
8g.99819575T>CCA371776728VPS13Bc.8860T>C (p.Ser2954Pro)
n.8930T>C
c.*4542T>C (n.*4542T>C)
c.8785T>C (p.Ser2929Pro)
c.8857T>C (p.Ser2953Pro)
c.8782T>C (p.Ser2928Pro)
c.8482T>C (p.Ser2828Pro)
c.5746T>C (p.Ser1916Pro)
c.4639T>C (p.Ser1547Pro)
c.8665T>C (p.Ser2889Pro)
c.4417T>C (p.Ser1473Pro)
c.7645T>C (p.Ser2549Pro)
8g.99819575T>GCA371776730VPS13Bc.8860T>G (p.Ser2954Ala)
n.8930T>G
c.*4542T>G (n.*4542T>G)
c.8785T>G (p.Ser2929Ala)
c.8857T>G (p.Ser2953Ala)
c.8782T>G (p.Ser2928Ala)
c.8482T>G (p.Ser2828Ala)
c.5746T>G (p.Ser1916Ala)
c.4639T>G (p.Ser1547Ala)
c.8665T>G (p.Ser2889Ala)
c.4417T>G (p.Ser1473Ala)
c.7645T>G (p.Ser2549Ala)
8g.99819575_99819576insAGTGCA2781476117VPS13Bc.8860_8861insAGTG (p.Ser2954Ter)
n.8930_8931insAGTG
c.*4542_*4543insAGTG (n.*4542_*4543insAGTG)
c.8785_8786insAGTG (p.Ser2929Ter)
c.8857_8858insAGTG (p.Ser2953Ter)
c.8782_8783insAGTG (p.Ser2928Ter)
c.8482_8483insAGTG (p.Ser2828Ter)
c.5746_5747insAGTG (p.Ser1916Ter)
c.4639_4640insAGTG (p.Ser1547Ter)
c.8665_8666insAGTG (p.Ser2889Ter)
c.4417_4418insAGTG (p.Ser1473Ter)
c.7645_7646insAGTG (p.Ser2549Ter)
8g.99819576C>ACA371776733VPS13Bc.8861C>A (p.Ser2954Tyr)
n.8931C>A
c.*4543C>A (n.*4543C>A)
c.8786C>A (p.Ser2929Tyr)
c.8858C>A (p.Ser2953Tyr)
c.8783C>A (p.Ser2928Tyr)
c.8483C>A (p.Ser2828Tyr)
c.5747C>A (p.Ser1916Tyr)
c.4640C>A (p.Ser1547Tyr)
c.8666C>A (p.Ser2889Tyr)
c.4418C>A (p.Ser1473Tyr)
c.7646C>A (p.Ser2549Tyr)
 ClinVar gnomAD v4
8g.99819576C>GCA371776734VPS13Bc.8861C>G (p.Ser2954Cys)
n.8931C>G
c.*4543C>G (n.*4543C>G)
c.8786C>G (p.Ser2929Cys)
c.8858C>G (p.Ser2953Cys)
c.8783C>G (p.Ser2928Cys)
c.8483C>G (p.Ser2828Cys)
c.5747C>G (p.Ser1916Cys)
c.4640C>G (p.Ser1547Cys)
c.8666C>G (p.Ser2889Cys)
c.4418C>G (p.Ser1473Cys)
c.7646C>G (p.Ser2549Cys)
8g.99819576C>TCA371776736VPS13Bc.8861C>T (p.Ser2954Phe)
n.8931C>T
c.*4543C>T (n.*4543C>T)
c.8786C>T (p.Ser2929Phe)
c.8858C>T (p.Ser2953Phe)
c.8783C>T (p.Ser2928Phe)
c.8483C>T (p.Ser2828Phe)
c.5747C>T (p.Ser1916Phe)
c.4640C>T (p.Ser1547Phe)
c.8666C>T (p.Ser2889Phe)
c.4418C>T (p.Ser1473Phe)
c.7646C>T (p.Ser2549Phe)
8g.99819577T>ACA462339535VPS13Bc.8862T>A (p.Ser2954=)
n.8932T>A
c.*4544T>A (n.*4544T>A)
c.8787T>A (p.Ser2929=)
c.8859T>A (p.Ser2953=)
c.8784T>A (p.Ser2928=)
c.8484T>A (p.Ser2828=)
c.5748T>A (p.Ser1916=)
c.4641T>A (p.Ser1547=)
c.8667T>A (p.Ser2889=)
c.4419T>A (p.Ser1473=)
c.7647T>A (p.Ser2549=)
8g.99819577T>CCA462339536VPS13Bc.8862T>C (p.Ser2954=)
n.8932T>C
c.*4544T>C (n.*4544T>C)
c.8787T>C (p.Ser2929=)
c.8859T>C (p.Ser2953=)
c.8784T>C (p.Ser2928=)
c.8484T>C (p.Ser2828=)
c.5748T>C (p.Ser1916=)
c.4641T>C (p.Ser1547=)
c.8667T>C (p.Ser2889=)
c.4419T>C (p.Ser1473=)
c.7647T>C (p.Ser2549=)
 ClinVar dbSNP gnomAD v4
8g.99819577T>GCA462339537VPS13Bc.8862T>G (p.Ser2954=)
n.8932T>G
c.*4544T>G (n.*4544T>G)
c.8787T>G (p.Ser2929=)
c.8859T>G (p.Ser2953=)
c.8784T>G (p.Ser2928=)
c.8484T>G (p.Ser2828=)
c.5748T>G (p.Ser1916=)
c.4641T>G (p.Ser1547=)
c.8667T>G (p.Ser2889=)
c.4419T>G (p.Ser1473=)
c.7647T>G (p.Ser2549=)
8g.99819577_99819578insACA2781476118VPS13Bc.8862_8863insA (p.Asp2955ArgfsTer4)
n.8932_8933insA
c.*4544_*4545insA (n.*4544_*4545insA)
c.8787_8788insA (p.Asp2930ArgfsTer4)
c.8859_8860insA (p.Asp2954ArgfsTer4)
c.8784_8785insA (p.Asp2929ArgfsTer4)
c.8484_8485insA (p.Asp2829ArgfsTer4)
c.5748_5749insA (p.Asp1917ArgfsTer4)
c.4641_4642insA (p.Asp1548ArgfsTer4)
c.8667_8668insA (p.Asp2890ArgfsTer4)
c.4419_4420insA (p.Asp1474ArgfsTer4)
c.7647_7648insA (p.Asp2550ArgfsTer4)
8g.99819578G>ACA371776738VPS13Bc.8863G>A (p.Asp2955Asn)
n.8933G>A
c.*4545G>A (n.*4545G>A)
c.8788G>A (p.Asp2930Asn)
c.8860G>A (p.Asp2954Asn)
c.8785G>A (p.Asp2929Asn)
c.8485G>A (p.Asp2829Asn)
c.5749G>A (p.Asp1917Asn)
c.4642G>A (p.Asp1548Asn)
c.8668G>A (p.Asp2890Asn)
c.4420G>A (p.Asp1474Asn)
c.7648G>A (p.Asp2550Asn)
 ClinVar dbSNP gnomAD v4
8g.99819578G>CCA371776740VPS13Bc.8863G>C (p.Asp2955His)
n.8933G>C
c.*4545G>C (n.*4545G>C)
c.8788G>C (p.Asp2930His)
c.8860G>C (p.Asp2954His)
c.8785G>C (p.Asp2929His)
c.8485G>C (p.Asp2829His)
c.5749G>C (p.Asp1917His)
c.4642G>C (p.Asp1548His)
c.8668G>C (p.Asp2890His)
c.4420G>C (p.Asp1474His)
c.7648G>C (p.Asp2550His)
8g.99819578G>TCA371776742VPS13Bc.8863G>T (p.Asp2955Tyr)
n.8933G>T
c.*4545G>T (n.*4545G>T)
c.8788G>T (p.Asp2930Tyr)
c.8860G>T (p.Asp2954Tyr)
c.8785G>T (p.Asp2929Tyr)
c.8485G>T (p.Asp2829Tyr)
c.5749G>T (p.Asp1917Tyr)
c.4642G>T (p.Asp1548Tyr)
c.8668G>T (p.Asp2890Tyr)
c.4420G>T (p.Asp1474Tyr)
c.7648G>T (p.Asp2550Tyr)
8g.99819579A>CCA371776744VPS13Bc.8864A>C (p.Asp2955Ala)
n.8934A>C
c.*4546A>C (n.*4546A>C)
c.8789A>C (p.Asp2930Ala)
c.8861A>C (p.Asp2954Ala)
c.8786A>C (p.Asp2929Ala)
c.8486A>C (p.Asp2829Ala)
c.5750A>C (p.Asp1917Ala)
c.4643A>C (p.Asp1548Ala)
c.8669A>C (p.Asp2890Ala)
c.4421A>C (p.Asp1474Ala)
c.7649A>C (p.Asp2550Ala)
8g.99819579A>GCA371776746VPS13Bc.8864A>G (p.Asp2955Gly)
n.8934A>G
c.*4546A>G (n.*4546A>G)
c.8789A>G (p.Asp2930Gly)
c.8861A>G (p.Asp2954Gly)
c.8786A>G (p.Asp2929Gly)
c.8486A>G (p.Asp2829Gly)
c.5750A>G (p.Asp1917Gly)
c.4643A>G (p.Asp1548Gly)
c.8669A>G (p.Asp2890Gly)
c.4421A>G (p.Asp1474Gly)
c.7649A>G (p.Asp2550Gly)
8g.99819579A>TCA371776747VPS13Bc.8864A>T (p.Asp2955Val)
n.8934A>T
c.*4546A>T (n.*4546A>T)
c.8789A>T (p.Asp2930Val)
c.8861A>T (p.Asp2954Val)
c.8786A>T (p.Asp2929Val)
c.8486A>T (p.Asp2829Val)
c.5750A>T (p.Asp1917Val)
c.4643A>T (p.Asp1548Val)
c.8669A>T (p.Asp2890Val)
c.4421A>T (p.Asp1474Val)
c.7649A>T (p.Asp2550Val)
8g.99819580C>ACA371776750VPS13Bc.8865C>A (p.Asp2955Glu)
n.8935C>A
c.*4547C>A (n.*4547C>A)
c.8790C>A (p.Asp2930Glu)
c.8862C>A (p.Asp2954Glu)
c.8787C>A (p.Asp2929Glu)
c.8487C>A (p.Asp2829Glu)
c.5751C>A (p.Asp1917Glu)
c.4644C>A (p.Asp1548Glu)
c.8670C>A (p.Asp2890Glu)
c.4422C>A (p.Asp1474Glu)
c.7650C>A (p.Asp2550Glu)
8g.99819580C>GCA371776749VPS13Bc.8865C>G (p.Asp2955Glu)
n.8935C>G
c.*4547C>G (n.*4547C>G)
c.8790C>G (p.Asp2930Glu)
c.8862C>G (p.Asp2954Glu)
c.8787C>G (p.Asp2929Glu)
c.8487C>G (p.Asp2829Glu)
c.5751C>G (p.Asp1917Glu)
c.4644C>G (p.Asp1548Glu)
c.8670C>G (p.Asp2890Glu)
c.4422C>G (p.Asp1474Glu)
c.7650C>G (p.Asp2550Glu)
8g.99819580C>TCA462339538VPS13Bc.8865C>T (p.Asp2955=)
n.8935C>T
c.*4547C>T (n.*4547C>T)
c.8790C>T (p.Asp2930=)
c.8862C>T (p.Asp2954=)
c.8787C>T (p.Asp2929=)
c.8487C>T (p.Asp2829=)
c.5751C>T (p.Asp1917=)
c.4644C>T (p.Asp1548=)
c.8670C>T (p.Asp2890=)
c.4422C>T (p.Asp1474=)
c.7650C>T (p.Asp2550=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819581A>CCA462339539VPS13Bc.8866A>C (p.Arg2956=)
n.8936A>C
c.*4548A>C (n.*4548A>C)
c.8791A>C (p.Arg2931=)
c.8863A>C (p.Arg2955=)
c.8788A>C (p.Arg2930=)
c.8488A>C (p.Arg2830=)
c.5752A>C (p.Arg1918=)
c.4645A>C (p.Arg1549=)
c.8671A>C (p.Arg2891=)
c.4423A>C (p.Arg1475=)
c.7651A>C (p.Arg2551=)
8g.99819581A>GCA371776754VPS13Bc.8866A>G (p.Arg2956Gly)
n.8936A>G
c.*4548A>G (n.*4548A>G)
c.8791A>G (p.Arg2931Gly)
c.8863A>G (p.Arg2955Gly)
c.8788A>G (p.Arg2930Gly)
c.8488A>G (p.Arg2830Gly)
c.5752A>G (p.Arg1918Gly)
c.4645A>G (p.Arg1549Gly)
c.8671A>G (p.Arg2891Gly)
c.4423A>G (p.Arg1475Gly)
c.7651A>G (p.Arg2551Gly)
 gnomAD v4
8g.99819581A>TCA371776756VPS13Bc.8866A>T (p.Arg2956Trp)
n.8936A>T
c.*4548A>T (n.*4548A>T)
c.8791A>T (p.Arg2931Trp)
c.8863A>T (p.Arg2955Trp)
c.8788A>T (p.Arg2930Trp)
c.8488A>T (p.Arg2830Trp)
c.5752A>T (p.Arg1918Trp)
c.4645A>T (p.Arg1549Trp)
c.8671A>T (p.Arg2891Trp)
c.4423A>T (p.Arg1475Trp)
c.7651A>T (p.Arg2551Trp)
8g.99819581_99819582delCA2718038867VPS13Bc.8866_8867del (p.Arg2956GlufsTer2)
n.8936_8937del
c.*4548_*4549del (n.*4548_*4549del)
c.8791_8792del (p.Arg2931GlufsTer2)
c.8863_8864del (p.Arg2955GlufsTer2)
c.8788_8789del (p.Arg2930GlufsTer2)
c.8488_8489del (p.Arg2830GlufsTer2)
c.5752_5753del (p.Arg1918GlufsTer2)
c.4645_4646del (p.Arg1549GlufsTer2)
c.8671_8672del (p.Arg2891GlufsTer2)
c.4423_4424del (p.Arg1475GlufsTer2)
c.7651_7652del (p.Arg2551GlufsTer2)
 dbSNP
8g.99819582G>ACA371776760VPS13Bc.8867G>A (p.Arg2956Lys)
n.8937G>A
c.*4549G>A (n.*4549G>A)
c.8792G>A (p.Arg2931Lys)
c.8864G>A (p.Arg2955Lys)
c.8789G>A (p.Arg2930Lys)
c.8489G>A (p.Arg2830Lys)
c.5753G>A (p.Arg1918Lys)
c.4646G>A (p.Arg1549Lys)
c.8672G>A (p.Arg2891Lys)
c.4424G>A (p.Arg1475Lys)
c.7652G>A (p.Arg2551Lys)
8g.99819582G>CCA371776763VPS13Bc.8867G>C (p.Arg2956Thr)
n.8937G>C
c.*4549G>C (n.*4549G>C)
c.8792G>C (p.Arg2931Thr)
c.8864G>C (p.Arg2955Thr)
c.8789G>C (p.Arg2930Thr)
c.8489G>C (p.Arg2830Thr)
c.5753G>C (p.Arg1918Thr)
c.4646G>C (p.Arg1549Thr)
c.8672G>C (p.Arg2891Thr)
c.4424G>C (p.Arg1475Thr)
c.7652G>C (p.Arg2551Thr)
8g.99819582G>TCA371776764VPS13Bc.8867G>T (p.Arg2956Met)
n.8937G>T
c.*4549G>T (n.*4549G>T)
c.8792G>T (p.Arg2931Met)
c.8864G>T (p.Arg2955Met)
c.8789G>T (p.Arg2930Met)
c.8489G>T (p.Arg2830Met)
c.5753G>T (p.Arg1918Met)
c.4646G>T (p.Arg1549Met)
c.8672G>T (p.Arg2891Met)
c.4424G>T (p.Arg1475Met)
c.7652G>T (p.Arg2551Met)
8g.99819583G>ACA371776768VPS13Bc.8867+1G>A (n.8867+1G>A)
n.8937+1G>A
c.*4549+1G>A (n.*4549+1G>A)
c.8792+1G>A (n.8792+1G>A)
c.8864+1G>A (n.8864+1G>A)
c.8789+1G>A (n.8789+1G>A)
c.8489+1G>A (n.8489+1G>A)
c.5753+1G>A (n.5753+1G>A)
c.4646+1G>A (n.4646+1G>A)
c.8672+1G>A (n.8672+1G>A)
c.4424+1G>A (n.4424+1G>A)
c.7652+1G>A (n.7652+1G>A)
8g.99819583G>CCA371776771VPS13Bc.8867+1G>C (n.8867+1G>C)
n.8937+1G>C
c.*4549+1G>C (n.*4549+1G>C)
c.8792+1G>C (n.8792+1G>C)
c.8864+1G>C (n.8864+1G>C)
c.8789+1G>C (n.8789+1G>C)
c.8489+1G>C (n.8489+1G>C)
c.5753+1G>C (n.5753+1G>C)
c.4646+1G>C (n.4646+1G>C)
c.8672+1G>C (n.8672+1G>C)
c.4424+1G>C (n.4424+1G>C)
c.7652+1G>C (n.7652+1G>C)
8g.99819583G>TCA371776773VPS13Bc.8867+1G>T (n.8867+1G>T)
n.8937+1G>T
c.*4549+1G>T (n.*4549+1G>T)
c.8792+1G>T (n.8792+1G>T)
c.8864+1G>T (n.8864+1G>T)
c.8789+1G>T (n.8789+1G>T)
c.8489+1G>T (n.8489+1G>T)
c.5753+1G>T (n.5753+1G>T)
c.4646+1G>T (n.4646+1G>T)
c.8672+1G>T (n.8672+1G>T)
c.4424+1G>T (n.4424+1G>T)
c.7652+1G>T (n.7652+1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819583_99819587delCA2781476119VPS13Bc.8867+1_8867+5del (n.8867+1_8867+5del)
n.8937+1_8937+5del
c.*4549+1_*4549+5del (n.*4549+1_*4549+5del)
c.8792+1_8792+5del (n.8792+1_8792+5del)
c.8864+1_8864+5del (n.8864+1_8864+5del)
c.8789+1_8789+5del (n.8789+1_8789+5del)
c.8489+1_8489+5del (n.8489+1_8489+5del)
c.5753+1_5753+5del (n.5753+1_5753+5del)
c.4646+1_4646+5del (n.4646+1_4646+5del)
c.8672+1_8672+5del (n.8672+1_8672+5del)
c.4424+1_4424+5del (n.4424+1_4424+5del)
c.7652+1_7652+5del (n.7652+1_7652+5del)
8g.99819584T>ACA371776775VPS13Bc.8867+2T>A (n.8867+2T>A)
n.8937+2T>A
c.*4549+2T>A (n.*4549+2T>A)
c.8792+2T>A (n.8792+2T>A)
c.8864+2T>A (n.8864+2T>A)
c.8789+2T>A (n.8789+2T>A)
c.8489+2T>A (n.8489+2T>A)
c.5753+2T>A (n.5753+2T>A)
c.4646+2T>A (n.4646+2T>A)
c.8672+2T>A (n.8672+2T>A)
c.4424+2T>A (n.4424+2T>A)
c.7652+2T>A (n.7652+2T>A)
8g.99819584T>CCA371776776VPS13Bc.8867+2T>C (n.8867+2T>C)
n.8937+2T>C
c.*4549+2T>C (n.*4549+2T>C)
c.8792+2T>C (n.8792+2T>C)
c.8864+2T>C (n.8864+2T>C)
c.8789+2T>C (n.8789+2T>C)
c.8489+2T>C (n.8489+2T>C)
c.5753+2T>C (n.5753+2T>C)
c.4646+2T>C (n.4646+2T>C)
c.8672+2T>C (n.8672+2T>C)
c.4424+2T>C (n.4424+2T>C)
c.7652+2T>C (n.7652+2T>C)
8g.99819584T>GCA371776777VPS13Bc.8867+2T>G (n.8867+2T>G)
n.8937+2T>G
c.*4549+2T>G (n.*4549+2T>G)
c.8792+2T>G (n.8792+2T>G)
c.8864+2T>G (n.8864+2T>G)
c.8789+2T>G (n.8789+2T>G)
c.8489+2T>G (n.8489+2T>G)
c.5753+2T>G (n.5753+2T>G)
c.4646+2T>G (n.4646+2T>G)
c.8672+2T>G (n.8672+2T>G)
c.4424+2T>G (n.4424+2T>G)
c.7652+2T>G (n.7652+2T>G)
8g.99819584_99819585delCA2781476120VPS13Bc.8867+2_8867+3del (n.8867+2_8867+3del)
n.8937+2_8937+3del
c.*4549+2_*4549+3del (n.*4549+2_*4549+3del)
c.8792+2_8792+3del (n.8792+2_8792+3del)
c.8864+2_8864+3del (n.8864+2_8864+3del)
c.8789+2_8789+3del (n.8789+2_8789+3del)
c.8489+2_8489+3del (n.8489+2_8489+3del)
c.5753+2_5753+3del (n.5753+2_5753+3del)
c.4646+2_4646+3del (n.4646+2_4646+3del)
c.8672+2_8672+3del (n.8672+2_8672+3del)
c.4424+2_4424+3del (n.4424+2_4424+3del)
c.7652+2_7652+3del (n.7652+2_7652+3del)
8g.99819585A>GCA2688070124VPS13Bc.8867+3A>G (n.8867+3A>G)
n.8937+3A>G
c.*4549+3A>G (n.*4549+3A>G)
c.8792+3A>G (n.8792+3A>G)
c.8864+3A>G (n.8864+3A>G)
c.8789+3A>G (n.8789+3A>G)
c.8489+3A>G (n.8489+3A>G)
c.5753+3A>G (n.5753+3A>G)
c.4646+3A>G (n.4646+3A>G)
c.8672+3A>G (n.8672+3A>G)
c.4424+3A>G (n.4424+3A>G)
c.7652+3A>G (n.7652+3A>G)
 gnomAD v4
8g.99819586A>GCA1117127111VPS13Bc.8867+4A>G (n.8867+4A>G)
n.8937+4A>G
c.*4549+4A>G (n.*4549+4A>G)
c.8792+4A>G (n.8792+4A>G)
c.8864+4A>G (n.8864+4A>G)
c.8789+4A>G (n.8789+4A>G)
c.8489+4A>G (n.8489+4A>G)
c.5753+4A>G (n.5753+4A>G)
c.4646+4A>G (n.4646+4A>G)
c.8672+4A>G (n.8672+4A>G)
c.4424+4A>G (n.4424+4A>G)
c.7652+4A>G (n.7652+4A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.99819589T>CCA4824544VPS13Bc.8867+7T>C (n.8867+7T>C)
n.8937+7T>C
c.*4549+7T>C (n.*4549+7T>C)
c.8792+7T>C (n.8792+7T>C)
c.8864+7T>C (n.8864+7T>C)
c.8789+7T>C (n.8789+7T>C)
c.8489+7T>C (n.8489+7T>C)
c.5753+7T>C (n.5753+7T>C)
c.4646+7T>C (n.4646+7T>C)
c.8672+7T>C (n.8672+7T>C)
c.4424+7T>C (n.4424+7T>C)
c.7652+7T>C (n.7652+7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819589T>GCA2781476121VPS13Bc.8867+7T>G (n.8867+7T>G)
n.8937+7T>G
c.*4549+7T>G (n.*4549+7T>G)
c.8792+7T>G (n.8792+7T>G)
c.8864+7T>G (n.8864+7T>G)
c.8789+7T>G (n.8789+7T>G)
c.8489+7T>G (n.8489+7T>G)
c.5753+7T>G (n.5753+7T>G)
c.4646+7T>G (n.4646+7T>G)
c.8672+7T>G (n.8672+7T>G)
c.4424+7T>G (n.4424+7T>G)
c.7652+7T>G (n.7652+7T>G)
8g.99819592_99819594delCA2781476122VPS13Bc.8867+10_8867+12del (n.8867+10_8867+12del)
n.8937+10_8937+12del
c.*4549+10_*4549+12del (n.*4549+10_*4549+12del)
c.8792+10_8792+12del (n.8792+10_8792+12del)
c.8864+10_8864+12del (n.8864+10_8864+12del)
c.8789+10_8789+12del (n.8789+10_8789+12del)
c.8489+10_8489+12del (n.8489+10_8489+12del)
c.5753+10_5753+12del (n.5753+10_5753+12del)
c.4646+10_4646+12del (n.4646+10_4646+12del)
c.8672+10_8672+12del (n.8672+10_8672+12del)
c.4424+10_4424+12del (n.4424+10_4424+12del)
c.7652+10_7652+12del (n.7652+10_7652+12del)
8g.99819593T>ACA4824545VPS13Bc.8867+11T>A (n.8867+11T>A)
n.8937+11T>A
c.*4549+11T>A (n.*4549+11T>A)
c.8792+11T>A (n.8792+11T>A)
c.8864+11T>A (n.8864+11T>A)
c.8789+11T>A (n.8789+11T>A)
c.8489+11T>A (n.8489+11T>A)
c.5753+11T>A (n.5753+11T>A)
c.4646+11T>A (n.4646+11T>A)
c.8672+11T>A (n.8672+11T>A)
c.4424+11T>A (n.4424+11T>A)
c.7652+11T>A (n.7652+11T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819593T>CCA2739265797VPS13Bc.8867+11T>C (n.8867+11T>C)
n.8937+11T>C
c.*4549+11T>C (n.*4549+11T>C)
c.8792+11T>C (n.8792+11T>C)
c.8864+11T>C (n.8864+11T>C)
c.8789+11T>C (n.8789+11T>C)
c.8489+11T>C (n.8489+11T>C)
c.5753+11T>C (n.5753+11T>C)
c.4646+11T>C (n.4646+11T>C)
c.8672+11T>C (n.8672+11T>C)
c.4424+11T>C (n.4424+11T>C)
c.7652+11T>C (n.7652+11T>C)
 ClinVar
8g.99819594_99819595insTCTCA4824546VPS13Bc.8867+12_8867+13insTCT (n.8867+12_8867+13insTCT)
n.8937+12_8937+13insTCT
c.*4549+12_*4549+13insTCT (n.*4549+12_*4549+13insTCT)
c.8792+12_8792+13insTCT (n.8792+12_8792+13insTCT)
c.8864+12_8864+13insTCT (n.8864+12_8864+13insTCT)
c.8789+12_8789+13insTCT (n.8789+12_8789+13insTCT)
c.8489+12_8489+13insTCT (n.8489+12_8489+13insTCT)
c.5753+12_5753+13insTCT (n.5753+12_5753+13insTCT)
c.4646+12_4646+13insTCT (n.4646+12_4646+13insTCT)
c.8672+12_8672+13insTCT (n.8672+12_8672+13insTCT)
c.4424+12_4424+13insTCT (n.4424+12_4424+13insTCT)
c.7652+12_7652+13insTCT (n.7652+12_7652+13insTCT)
 dbSNP ExAC gnomAD v2
8g.99819595_99819605delCA4824547VPS13Bc.8867+13_8867+23del (n.8867+13_8867+23del)
n.8937+13_8937+23del
c.*4549+13_*4549+23del (n.*4549+13_*4549+23del)
c.8792+13_8792+23del (n.8792+13_8792+23del)
c.8864+13_8864+23del (n.8864+13_8864+23del)
c.8789+13_8789+23del (n.8789+13_8789+23del)
c.8489+13_8489+23del (n.8489+13_8489+23del)
c.5753+13_5753+23del (n.5753+13_5753+23del)
c.4646+13_4646+23del (n.4646+13_4646+23del)
c.8672+13_8672+23del (n.8672+13_8672+23del)
c.4424+13_4424+23del (n.4424+13_4424+23del)
c.7652+13_7652+23del (n.7652+13_7652+23del)
 dbSNP ExAC gnomAD v2
8g.99819596G>CCA4824549VPS13Bc.8867+14G>C (n.8867+14G>C)
n.8937+14G>C
c.*4549+14G>C (n.*4549+14G>C)
c.8792+14G>C (n.8792+14G>C)
c.8864+14G>C (n.8864+14G>C)
c.8789+14G>C (n.8789+14G>C)
c.8489+14G>C (n.8489+14G>C)
c.5753+14G>C (n.5753+14G>C)
c.4646+14G>C (n.4646+14G>C)
c.8672+14G>C (n.8672+14G>C)
c.4424+14G>C (n.4424+14G>C)
c.7652+14G>C (n.7652+14G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819596_99819597insGAAATCA4824548VPS13Bc.8867+14_8867+15insGAAAT (n.8867+14_8867+15insGAAAT)
n.8937+14_8937+15insGAAAT
c.*4549+14_*4549+15insGAAAT (n.*4549+14_*4549+15insGAAAT)
c.8792+14_8792+15insGAAAT (n.8792+14_8792+15insGAAAT)
c.8864+14_8864+15insGAAAT (n.8864+14_8864+15insGAAAT)
c.8789+14_8789+15insGAAAT (n.8789+14_8789+15insGAAAT)
c.8489+14_8489+15insGAAAT (n.8489+14_8489+15insGAAAT)
c.5753+14_5753+15insGAAAT (n.5753+14_5753+15insGAAAT)
c.4646+14_4646+15insGAAAT (n.4646+14_4646+15insGAAAT)
c.8672+14_8672+15insGAAAT (n.8672+14_8672+15insGAAAT)
c.4424+14_4424+15insGAAAT (n.4424+14_4424+15insGAAAT)
c.7652+14_7652+15insGAAAT (n.7652+14_7652+15insGAAAT)
 dbSNP ExAC gnomAD v2
8g.99819597T>CCA2740095119VPS13Bc.8867+15T>C (n.8867+15T>C)
n.8937+15T>C
c.*4549+15T>C (n.*4549+15T>C)
c.8792+15T>C (n.8792+15T>C)
c.8864+15T>C (n.8864+15T>C)
c.8789+15T>C (n.8789+15T>C)
c.8489+15T>C (n.8489+15T>C)
c.5753+15T>C (n.5753+15T>C)
c.4646+15T>C (n.4646+15T>C)
c.8672+15T>C (n.8672+15T>C)
c.4424+15T>C (n.4424+15T>C)
c.7652+15T>C (n.7652+15T>C)
 ClinVar
8g.99819597_99819598insACGCA2781476123VPS13Bc.8867+15_8867+16insACG (n.8867+15_8867+16insACG)
n.8937+15_8937+16insACG
c.*4549+15_*4549+16insACG (n.*4549+15_*4549+16insACG)
c.8792+15_8792+16insACG (n.8792+15_8792+16insACG)
c.8864+15_8864+16insACG (n.8864+15_8864+16insACG)
c.8789+15_8789+16insACG (n.8789+15_8789+16insACG)
c.8489+15_8489+16insACG (n.8489+15_8489+16insACG)
c.5753+15_5753+16insACG (n.5753+15_5753+16insACG)
c.4646+15_4646+16insACG (n.4646+15_4646+16insACG)
c.8672+15_8672+16insACG (n.8672+15_8672+16insACG)
c.4424+15_4424+16insACG (n.4424+15_4424+16insACG)
c.7652+15_7652+16insACG (n.7652+15_7652+16insACG)
8g.99819598G>ACA2688070125VPS13Bc.8867+16G>A (n.8867+16G>A)
n.8937+16G>A
c.*4549+16G>A (n.*4549+16G>A)
c.8792+16G>A (n.8792+16G>A)
c.8864+16G>A (n.8864+16G>A)
c.8789+16G>A (n.8789+16G>A)
c.8489+16G>A (n.8489+16G>A)
c.5753+16G>A (n.5753+16G>A)
c.4646+16G>A (n.4646+16G>A)
c.8672+16G>A (n.8672+16G>A)
c.4424+16G>A (n.4424+16G>A)
c.7652+16G>A (n.7652+16G>A)
 gnomAD v4
8g.99819599A>GCA2739265798VPS13Bc.8867+17A>G (n.8867+17A>G)
n.8937+17A>G
c.*4549+17A>G (n.*4549+17A>G)
c.8792+17A>G (n.8792+17A>G)
c.8864+17A>G (n.8864+17A>G)
c.8789+17A>G (n.8789+17A>G)
c.8489+17A>G (n.8489+17A>G)
c.5753+17A>G (n.5753+17A>G)
c.4646+17A>G (n.4646+17A>G)
c.8672+17A>G (n.8672+17A>G)
c.4424+17A>G (n.4424+17A>G)
c.7652+17A>G (n.7652+17A>G)
 ClinVar
8g.99819601_99819605delCA2781476124VPS13Bc.8867+19_8867+23del (n.8867+19_8867+23del)
n.8937+19_8937+23del
c.*4549+19_*4549+23del (n.*4549+19_*4549+23del)
c.8792+19_8792+23del (n.8792+19_8792+23del)
c.8864+19_8864+23del (n.8864+19_8864+23del)
c.8789+19_8789+23del (n.8789+19_8789+23del)
c.8489+19_8489+23del (n.8489+19_8489+23del)
c.5753+19_5753+23del (n.5753+19_5753+23del)
c.4646+19_4646+23del (n.4646+19_4646+23del)
c.8672+19_8672+23del (n.8672+19_8672+23del)
c.4424+19_4424+23del (n.4424+19_4424+23del)
c.7652+19_7652+23del (n.7652+19_7652+23del)
8g.99819600_99819601insACA2781476125VPS13Bc.8867+18_8867+19insA (n.8867+18_8867+19insA)
n.8937+18_8937+19insA
c.*4549+18_*4549+19insA (n.*4549+18_*4549+19insA)
c.8792+18_8792+19insA (n.8792+18_8792+19insA)
c.8864+18_8864+19insA (n.8864+18_8864+19insA)
c.8789+18_8789+19insA (n.8789+18_8789+19insA)
c.8489+18_8489+19insA (n.8489+18_8489+19insA)
c.5753+18_5753+19insA (n.5753+18_5753+19insA)
c.4646+18_4646+19insA (n.4646+18_4646+19insA)
c.8672+18_8672+19insA (n.8672+18_8672+19insA)
c.4424+18_4424+19insA (n.4424+18_4424+19insA)
c.7652+18_7652+19insA (n.7652+18_7652+19insA)
8g.99819601C>GCA2573143489VPS13Bc.8867+19C>G (n.8867+19C>G)
n.8937+19C>G
c.*4549+19C>G (n.*4549+19C>G)
c.8792+19C>G (n.8792+19C>G)
c.8864+19C>G (n.8864+19C>G)
c.8789+19C>G (n.8789+19C>G)
c.8489+19C>G (n.8489+19C>G)
c.5753+19C>G (n.5753+19C>G)
c.4646+19C>G (n.4646+19C>G)
c.8672+19C>G (n.8672+19C>G)
c.4424+19C>G (n.4424+19C>G)
c.7652+19C>G (n.7652+19C>G)
 ClinVar dbSNP
8g.99819602T>CCA2688070126VPS13Bc.8867+20T>C (n.8867+20T>C)
n.8937+20T>C
c.*4549+20T>C (n.*4549+20T>C)
c.8792+20T>C (n.8792+20T>C)
c.8864+20T>C (n.8864+20T>C)
c.8789+20T>C (n.8789+20T>C)
c.8489+20T>C (n.8489+20T>C)
c.5753+20T>C (n.5753+20T>C)
c.4646+20T>C (n.4646+20T>C)
c.8672+20T>C (n.8672+20T>C)
c.4424+20T>C (n.4424+20T>C)
c.7652+20T>C (n.7652+20T>C)
 gnomAD v4
8g.99819602T>GCA2688070127VPS13Bc.8867+20T>G (n.8867+20T>G)
n.8937+20T>G
c.*4549+20T>G (n.*4549+20T>G)
c.8792+20T>G (n.8792+20T>G)
c.8864+20T>G (n.8864+20T>G)
c.8789+20T>G (n.8789+20T>G)
c.8489+20T>G (n.8489+20T>G)
c.5753+20T>G (n.5753+20T>G)
c.4646+20T>G (n.4646+20T>G)
c.8672+20T>G (n.8672+20T>G)
c.4424+20T>G (n.4424+20T>G)
c.7652+20T>G (n.7652+20T>G)
 gnomAD v4
8g.99819606dupCA583884704VPS13Bc.8867+24dup (n.8867+24dup)
n.8937+24dup
c.*4549+24dup (n.*4549+24dup)
c.8792+24dup (n.8792+24dup)
c.8864+24dup (n.8864+24dup)
c.8789+24dup (n.8789+24dup)
c.8489+24dup (n.8489+24dup)
c.5753+24dup (n.5753+24dup)
c.4646+24dup (n.4646+24dup)
c.8672+24dup (n.8672+24dup)
c.4424+24dup (n.4424+24dup)
c.7652+24dup (n.7652+24dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819603T>CCA4824550VPS13Bc.8867+21T>C (n.8867+21T>C)
n.8937+21T>C
c.*4549+21T>C (n.*4549+21T>C)
c.8792+21T>C (n.8792+21T>C)
c.8864+21T>C (n.8864+21T>C)
c.8789+21T>C (n.8789+21T>C)
c.8489+21T>C (n.8489+21T>C)
c.5753+21T>C (n.5753+21T>C)
c.4646+21T>C (n.4646+21T>C)
c.8672+21T>C (n.8672+21T>C)
c.4424+21T>C (n.4424+21T>C)
c.7652+21T>C (n.7652+21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819603_99819604insACCA2781476126VPS13Bc.8867+21_8867+22insAC (n.8867+21_8867+22insAC)
n.8937+21_8937+22insAC
c.*4549+21_*4549+22insAC (n.*4549+21_*4549+22insAC)
c.8792+21_8792+22insAC (n.8792+21_8792+22insAC)
c.8864+21_8864+22insAC (n.8864+21_8864+22insAC)
c.8789+21_8789+22insAC (n.8789+21_8789+22insAC)
c.8489+21_8489+22insAC (n.8489+21_8489+22insAC)
c.5753+21_5753+22insAC (n.5753+21_5753+22insAC)
c.4646+21_4646+22insAC (n.4646+21_4646+22insAC)
c.8672+21_8672+22insAC (n.8672+21_8672+22insAC)
c.4424+21_4424+22insAC (n.4424+21_4424+22insAC)
c.7652+21_7652+22insAC (n.7652+21_7652+22insAC)
8g.99819604T>GCA462339540VPS13Bc.8867+22T>G (n.8867+22T>G)
n.8937+22T>G
c.*4549+22T>G (n.*4549+22T>G)
c.8792+22T>G (n.8792+22T>G)
c.8864+22T>G (n.8864+22T>G)
c.8789+22T>G (n.8789+22T>G)
c.8489+22T>G (n.8489+22T>G)
c.5753+22T>G (n.5753+22T>G)
c.4646+22T>G (n.4646+22T>G)
c.8672+22T>G (n.8672+22T>G)
c.4424+22T>G (n.4424+22T>G)
c.7652+22T>G (n.7652+22T>G)
 dbSNP
8g.99819605_99819608delCA2781476127VPS13Bc.8867+23_8867+26del (n.8867+23_8867+26del)
n.8937+23_8937+26del
c.*4549+23_*4549+26del (n.*4549+23_*4549+26del)
c.8792+23_8792+26del (n.8792+23_8792+26del)
c.8864+23_8864+26del (n.8864+23_8864+26del)
c.8789+23_8789+26del (n.8789+23_8789+26del)
c.8489+23_8489+26del (n.8489+23_8489+26del)
c.5753+23_5753+26del (n.5753+23_5753+26del)
c.4646+23_4646+26del (n.4646+23_4646+26del)
c.8672+23_8672+26del (n.8672+23_8672+26del)
c.4424+23_4424+26del (n.4424+23_4424+26del)
c.7652+23_7652+26del (n.7652+23_7652+26del)
8g.99819605T>CCA2688070128VPS13Bc.8867+23T>C (n.8867+23T>C)
n.8937+23T>C
c.*4549+23T>C (n.*4549+23T>C)
c.8792+23T>C (n.8792+23T>C)
c.8864+23T>C (n.8864+23T>C)
c.8789+23T>C (n.8789+23T>C)
c.8489+23T>C (n.8489+23T>C)
c.5753+23T>C (n.5753+23T>C)
c.4646+23T>C (n.4646+23T>C)
c.8672+23T>C (n.8672+23T>C)
c.4424+23T>C (n.4424+23T>C)
c.7652+23T>C (n.7652+23T>C)
 gnomAD v4
8g.99819606T>ACA2781476128VPS13Bc.8867+24T>A (n.8867+24T>A)
n.8937+24T>A
c.*4549+24T>A (n.*4549+24T>A)
c.8792+24T>A (n.8792+24T>A)
c.8864+24T>A (n.8864+24T>A)
c.8789+24T>A (n.8789+24T>A)
c.8489+24T>A (n.8489+24T>A)
c.5753+24T>A (n.5753+24T>A)
c.4646+24T>A (n.4646+24T>A)
c.8672+24T>A (n.8672+24T>A)
c.4424+24T>A (n.4424+24T>A)
c.7652+24T>A (n.7652+24T>A)
8g.99819606T>CCA857600393VPS13Bc.8867+24T>C (n.8867+24T>C)
n.8937+24T>C
c.*4549+24T>C (n.*4549+24T>C)
c.8792+24T>C (n.8792+24T>C)
c.8864+24T>C (n.8864+24T>C)
c.8789+24T>C (n.8789+24T>C)
c.8489+24T>C (n.8489+24T>C)
c.5753+24T>C (n.5753+24T>C)
c.4646+24T>C (n.4646+24T>C)
c.8672+24T>C (n.8672+24T>C)
c.4424+24T>C (n.4424+24T>C)
c.7652+24T>C (n.7652+24T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.99819606_99819607insACCCA2781476129VPS13Bc.8867+24_8867+25insACC (n.8867+24_8867+25insACC)
n.8937+24_8937+25insACC
c.*4549+24_*4549+25insACC (n.*4549+24_*4549+25insACC)
c.8792+24_8792+25insACC (n.8792+24_8792+25insACC)
c.8864+24_8864+25insACC (n.8864+24_8864+25insACC)
c.8789+24_8789+25insACC (n.8789+24_8789+25insACC)
c.8489+24_8489+25insACC (n.8489+24_8489+25insACC)
c.5753+24_5753+25insACC (n.5753+24_5753+25insACC)
c.4646+24_4646+25insACC (n.4646+24_4646+25insACC)
c.8672+24_8672+25insACC (n.8672+24_8672+25insACC)
c.4424+24_4424+25insACC (n.4424+24_4424+25insACC)
c.7652+24_7652+25insACC (n.7652+24_7652+25insACC)
8g.99819607C>ACA2688070129VPS13Bc.8867+25C>A (n.8867+25C>A)
n.8937+25C>A
c.*4549+25C>A (n.*4549+25C>A)
c.8792+25C>A (n.8792+25C>A)
c.8864+25C>A (n.8864+25C>A)
c.8789+25C>A (n.8789+25C>A)
c.8489+25C>A (n.8489+25C>A)
c.5753+25C>A (n.5753+25C>A)
c.4646+25C>A (n.4646+25C>A)
c.8672+25C>A (n.8672+25C>A)
c.4424+25C>A (n.4424+25C>A)
c.7652+25C>A (n.7652+25C>A)
 gnomAD v4
8g.99819607_99819608insAGACA2781476130VPS13Bc.8867+25_8867+26insAGA (n.8867+25_8867+26insAGA)
n.8937+25_8937+26insAGA
c.*4549+25_*4549+26insAGA (n.*4549+25_*4549+26insAGA)
c.8792+25_8792+26insAGA (n.8792+25_8792+26insAGA)
c.8864+25_8864+26insAGA (n.8864+25_8864+26insAGA)
c.8789+25_8789+26insAGA (n.8789+25_8789+26insAGA)
c.8489+25_8489+26insAGA (n.8489+25_8489+26insAGA)
c.5753+25_5753+26insAGA (n.5753+25_5753+26insAGA)
c.4646+25_4646+26insAGA (n.4646+25_4646+26insAGA)
c.8672+25_8672+26insAGA (n.8672+25_8672+26insAGA)
c.4424+25_4424+26insAGA (n.4424+25_4424+26insAGA)
c.7652+25_7652+26insAGA (n.7652+25_7652+26insAGA)
8g.99819609A>GCA857600399VPS13Bc.8867+27A>G (n.8867+27A>G)
n.8937+27A>G
c.*4549+27A>G (n.*4549+27A>G)
c.8792+27A>G (n.8792+27A>G)
c.8864+27A>G (n.8864+27A>G)
c.8789+27A>G (n.8789+27A>G)
c.8489+27A>G (n.8489+27A>G)
c.5753+27A>G (n.5753+27A>G)
c.4646+27A>G (n.4646+27A>G)
c.8672+27A>G (n.8672+27A>G)
c.4424+27A>G (n.4424+27A>G)
c.7652+27A>G (n.7652+27A>G)
 dbSNP
8g.99819610C>GCA4824551VPS13Bc.8867+28C>G (n.8867+28C>G)
n.8937+28C>G
c.*4549+28C>G (n.*4549+28C>G)
c.8792+28C>G (n.8792+28C>G)
c.8864+28C>G (n.8864+28C>G)
c.8789+28C>G (n.8789+28C>G)
c.8489+28C>G (n.8489+28C>G)
c.5753+28C>G (n.5753+28C>G)
c.4646+28C>G (n.4646+28C>G)
c.8672+28C>G (n.8672+28C>G)
c.4424+28C>G (n.4424+28C>G)
c.7652+28C>G (n.7652+28C>G)
 dbSNP ExAC gnomAD v2
8g.99819611A>GCA4824552VPS13Bc.8867+29A>G (n.8867+29A>G)
n.8937+29A>G
c.*4549+29A>G (n.*4549+29A>G)
c.8792+29A>G (n.8792+29A>G)
c.8864+29A>G (n.8864+29A>G)
c.8789+29A>G (n.8789+29A>G)
c.8489+29A>G (n.8489+29A>G)
c.5753+29A>G (n.5753+29A>G)
c.4646+29A>G (n.4646+29A>G)
c.8672+29A>G (n.8672+29A>G)
c.4424+29A>G (n.4424+29A>G)
c.7652+29A>G (n.7652+29A>G)
 dbSNP ExAC gnomAD v2
8g.99819615dupCA2688070130VPS13Bc.8867+33dup (n.8867+33dup)
n.8937+33dup
c.*4549+33dup (n.*4549+33dup)
c.8792+33dup (n.8792+33dup)
c.8864+33dup (n.8864+33dup)
c.8789+33dup (n.8789+33dup)
c.8489+33dup (n.8489+33dup)
c.5753+33dup (n.5753+33dup)
c.4646+33dup (n.4646+33dup)
c.8672+33dup (n.8672+33dup)
c.4424+33dup (n.4424+33dup)
c.7652+33dup (n.7652+33dup)
 gnomAD v4
8g.99819612A>GCA4824553VPS13Bc.8867+30A>G (n.8867+30A>G)
n.8937+30A>G
c.*4549+30A>G (n.*4549+30A>G)
c.8792+30A>G (n.8792+30A>G)
c.8864+30A>G (n.8864+30A>G)
c.8789+30A>G (n.8789+30A>G)
c.8489+30A>G (n.8489+30A>G)
c.5753+30A>G (n.5753+30A>G)
c.4646+30A>G (n.4646+30A>G)
c.8672+30A>G (n.8672+30A>G)
c.4424+30A>G (n.4424+30A>G)
c.7652+30A>G (n.7652+30A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819612A>TCA2781476131VPS13Bc.8867+30A>T (n.8867+30A>T)
n.8937+30A>T
c.*4549+30A>T (n.*4549+30A>T)
c.8792+30A>T (n.8792+30A>T)
c.8864+30A>T (n.8864+30A>T)
c.8789+30A>T (n.8789+30A>T)
c.8489+30A>T (n.8489+30A>T)
c.5753+30A>T (n.5753+30A>T)
c.4646+30A>T (n.4646+30A>T)
c.8672+30A>T (n.8672+30A>T)
c.4424+30A>T (n.4424+30A>T)
c.7652+30A>T (n.7652+30A>T)

Number of alleles fetched