Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99870773C>GCA2688072986VPS13Bc.*562-12C>G (n.*562-12C>G)
n.11538-12C>G
c.*7150-12C>G (n.*7150-12C>G)
c.11393-12C>G (n.11393-12C>G)
c.11468-12C>G (n.11468-12C>G)
n.410-12C>G
c.11465-12C>G (n.11465-12C>G)
c.11390-12C>G (n.11390-12C>G)
c.11090-12C>G (n.11090-12C>G)
c.8354-12C>G (n.8354-12C>G)
c.7247-12C>G (n.7247-12C>G)
c.11273-12C>G (n.11273-12C>G)
c.7025-12C>G (n.7025-12C>G)
c.10253-12C>G (n.10253-12C>G)
 ClinVar dbSNP gnomAD v4
8g.99870773C>TCA2688072985VPS13Bc.*562-12C>T (n.*562-12C>T)
n.11538-12C>T
c.*7150-12C>T (n.*7150-12C>T)
c.11393-12C>T (n.11393-12C>T)
c.11468-12C>T (n.11468-12C>T)
n.410-12C>T
c.11465-12C>T (n.11465-12C>T)
c.11390-12C>T (n.11390-12C>T)
c.11090-12C>T (n.11090-12C>T)
c.8354-12C>T (n.8354-12C>T)
c.7247-12C>T (n.7247-12C>T)
c.11273-12C>T (n.11273-12C>T)
c.7025-12C>T (n.7025-12C>T)
c.10253-12C>T (n.10253-12C>T)
 gnomAD v4
8g.99870775C>ACA2688072987VPS13Bc.*562-10C>A (n.*562-10C>A)
n.11538-10C>A
c.*7150-10C>A (n.*7150-10C>A)
c.11393-10C>A (n.11393-10C>A)
c.11468-10C>A (n.11468-10C>A)
n.410-10C>A
c.11465-10C>A (n.11465-10C>A)
c.11390-10C>A (n.11390-10C>A)
c.11090-10C>A (n.11090-10C>A)
c.8354-10C>A (n.8354-10C>A)
c.7247-10C>A (n.7247-10C>A)
c.11273-10C>A (n.11273-10C>A)
c.7025-10C>A (n.7025-10C>A)
c.10253-10C>A (n.10253-10C>A)
 gnomAD v4
8g.99870775C>GCA2688072989VPS13Bc.*562-10C>G (n.*562-10C>G)
n.11538-10C>G
c.*7150-10C>G (n.*7150-10C>G)
c.11393-10C>G (n.11393-10C>G)
c.11468-10C>G (n.11468-10C>G)
n.410-10C>G
c.11465-10C>G (n.11465-10C>G)
c.11390-10C>G (n.11390-10C>G)
c.11090-10C>G (n.11090-10C>G)
c.8354-10C>G (n.8354-10C>G)
c.7247-10C>G (n.7247-10C>G)
c.11273-10C>G (n.11273-10C>G)
c.7025-10C>G (n.7025-10C>G)
c.10253-10C>G (n.10253-10C>G)
 gnomAD v4
8g.99870775C>TCA2544593414VPS13Bc.*562-10C>T (n.*562-10C>T)
n.11538-10C>T
c.*7150-10C>T (n.*7150-10C>T)
c.11393-10C>T (n.11393-10C>T)
c.11468-10C>T (n.11468-10C>T)
n.410-10C>T
c.11465-10C>T (n.11465-10C>T)
c.11390-10C>T (n.11390-10C>T)
c.11090-10C>T (n.11090-10C>T)
c.8354-10C>T (n.8354-10C>T)
c.7247-10C>T (n.7247-10C>T)
c.11273-10C>T (n.11273-10C>T)
c.7025-10C>T (n.7025-10C>T)
c.10253-10C>T (n.10253-10C>T)
8g.99870776T>CCA583849173VPS13Bc.*562-9T>C (n.*562-9T>C)
n.11538-9T>C
c.*7150-9T>C (n.*7150-9T>C)
c.11393-9T>C (n.11393-9T>C)
c.11468-9T>C (n.11468-9T>C)
n.410-9T>C
c.11465-9T>C (n.11465-9T>C)
c.11390-9T>C (n.11390-9T>C)
c.11090-9T>C (n.11090-9T>C)
c.8354-9T>C (n.8354-9T>C)
c.7247-9T>C (n.7247-9T>C)
c.11273-9T>C (n.11273-9T>C)
c.7025-9T>C (n.7025-9T>C)
c.10253-9T>C (n.10253-9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99870776T>GCA2688072994VPS13Bc.*562-9T>G (n.*562-9T>G)
n.11538-9T>G
c.*7150-9T>G (n.*7150-9T>G)
c.11393-9T>G (n.11393-9T>G)
c.11468-9T>G (n.11468-9T>G)
n.410-9T>G
c.11465-9T>G (n.11465-9T>G)
c.11390-9T>G (n.11390-9T>G)
c.11090-9T>G (n.11090-9T>G)
c.8354-9T>G (n.8354-9T>G)
c.7247-9T>G (n.7247-9T>G)
c.11273-9T>G (n.11273-9T>G)
c.7025-9T>G (n.7025-9T>G)
c.10253-9T>G (n.10253-9T>G)
 gnomAD v4
8g.99870779C>ACA2580079247VPS13Bc.*562-6C>A (n.*562-6C>A)
n.11538-6C>A
c.*7150-6C>A (n.*7150-6C>A)
c.11393-6C>A (n.11393-6C>A)
c.11468-6C>A (n.11468-6C>A)
n.410-6C>A
c.11465-6C>A (n.11465-6C>A)
c.11390-6C>A (n.11390-6C>A)
c.11090-6C>A (n.11090-6C>A)
c.8354-6C>A (n.8354-6C>A)
c.7247-6C>A (n.7247-6C>A)
c.11273-6C>A (n.11273-6C>A)
c.7025-6C>A (n.7025-6C>A)
c.10253-6C>A (n.10253-6C>A)
 ClinVar
8g.99870782C>TCA462339593VPS13Bc.*562-3C>T (n.*562-3C>T)
n.11538-3C>T
c.*7150-3C>T (n.*7150-3C>T)
c.11393-3C>T (n.11393-3C>T)
c.11468-3C>T (n.11468-3C>T)
n.410-3C>T
c.11465-3C>T (n.11465-3C>T)
c.11390-3C>T (n.11390-3C>T)
c.11090-3C>T (n.11090-3C>T)
c.8354-3C>T (n.8354-3C>T)
c.7247-3C>T (n.7247-3C>T)
c.11273-3C>T (n.11273-3C>T)
c.7025-3C>T (n.7025-3C>T)
c.10253-3C>T (n.10253-3C>T)
 gnomAD v4
8g.99870783A>CCA371793529VPS13Bc.*562-2A>C (n.*562-2A>C)
n.11538-2A>C
c.*7150-2A>C (n.*7150-2A>C)
c.11393-2A>C (n.11393-2A>C)
c.11468-2A>C (n.11468-2A>C)
n.410-2A>C
c.11465-2A>C (n.11465-2A>C)
c.11390-2A>C (n.11390-2A>C)
c.11090-2A>C (n.11090-2A>C)
c.8354-2A>C (n.8354-2A>C)
c.7247-2A>C (n.7247-2A>C)
c.11273-2A>C (n.11273-2A>C)
c.7025-2A>C (n.7025-2A>C)
c.10253-2A>C (n.10253-2A>C)
 ClinVar dbSNP
8g.99870783A>GCA371793530VPS13Bc.*562-2A>G (n.*562-2A>G)
n.11538-2A>G
c.*7150-2A>G (n.*7150-2A>G)
c.11393-2A>G (n.11393-2A>G)
c.11468-2A>G (n.11468-2A>G)
n.410-2A>G
c.11465-2A>G (n.11465-2A>G)
c.11390-2A>G (n.11390-2A>G)
c.11090-2A>G (n.11090-2A>G)
c.8354-2A>G (n.8354-2A>G)
c.7247-2A>G (n.7247-2A>G)
c.11273-2A>G (n.11273-2A>G)
c.7025-2A>G (n.7025-2A>G)
c.10253-2A>G (n.10253-2A>G)
8g.99870783A>TCA371793531VPS13Bc.*562-2A>T (n.*562-2A>T)
n.11538-2A>T
c.*7150-2A>T (n.*7150-2A>T)
c.11393-2A>T (n.11393-2A>T)
c.11468-2A>T (n.11468-2A>T)
n.410-2A>T
c.11465-2A>T (n.11465-2A>T)
c.11390-2A>T (n.11390-2A>T)
c.11090-2A>T (n.11090-2A>T)
c.8354-2A>T (n.8354-2A>T)
c.7247-2A>T (n.7247-2A>T)
c.11273-2A>T (n.11273-2A>T)
c.7025-2A>T (n.7025-2A>T)
c.10253-2A>T (n.10253-2A>T)
8g.99870784G>ACA16041276VPS13Bc.*562-1G>A (n.*562-1G>A)
n.11538-1G>A
c.*7150-1G>A (n.*7150-1G>A)
c.11393-1G>A (n.11393-1G>A)
c.11468-1G>A (n.11468-1G>A)
n.410-1G>A
c.11465-1G>A (n.11465-1G>A)
c.11390-1G>A (n.11390-1G>A)
c.11090-1G>A (n.11090-1G>A)
c.8354-1G>A (n.8354-1G>A)
c.7247-1G>A (n.7247-1G>A)
c.11273-1G>A (n.11273-1G>A)
c.7025-1G>A (n.7025-1G>A)
c.10253-1G>A (n.10253-1G>A)
 ClinVar dbSNP gnomAD v4
8g.99870784G>CCA4825238VPS13Bc.*562-1G>C (n.*562-1G>C)
n.11538-1G>C
c.*7150-1G>C (n.*7150-1G>C)
c.11393-1G>C (n.11393-1G>C)
c.11468-1G>C (n.11468-1G>C)
n.410-1G>C
c.11465-1G>C (n.11465-1G>C)
c.11390-1G>C (n.11390-1G>C)
c.11090-1G>C (n.11090-1G>C)
c.8354-1G>C (n.8354-1G>C)
c.7247-1G>C (n.7247-1G>C)
c.11273-1G>C (n.11273-1G>C)
c.7025-1G>C (n.7025-1G>C)
c.10253-1G>C (n.10253-1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99870784G>TCA371793532VPS13Bc.*562-1G>T (n.*562-1G>T)
n.11538-1G>T
c.*7150-1G>T (n.*7150-1G>T)
c.11393-1G>T (n.11393-1G>T)
c.11468-1G>T (n.11468-1G>T)
n.410-1G>T
c.11465-1G>T (n.11465-1G>T)
c.11390-1G>T (n.11390-1G>T)
c.11090-1G>T (n.11090-1G>T)
c.8354-1G>T (n.8354-1G>T)
c.7247-1G>T (n.7247-1G>T)
c.11273-1G>T (n.11273-1G>T)
c.7025-1G>T (n.7025-1G>T)
c.10253-1G>T (n.10253-1G>T)
8g.99870785G>ACA371793533VPS13Bc.*562G>A (n.*562G>A)
n.11538G>A
c.*7150G>A (n.*7150G>A)
c.11393G>A (p.Gly3798Asp)
c.11468G>A (p.Gly3823Asp)
n.410G>A
c.11465G>A (p.Gly3822Asp)
c.11390G>A (p.Gly3797Asp)
c.11090G>A (p.Gly3697Asp)
c.8354G>A (p.Gly2785Asp)
c.7247G>A (p.Gly2416Asp)
c.11273G>A (p.Gly3758Asp)
c.7025G>A (p.Gly2342Asp)
c.10253G>A (p.Gly3418Asp)
8g.99870785G>CCA371793535VPS13Bc.*562G>C (n.*562G>C)
n.11538G>C
c.*7150G>C (n.*7150G>C)
c.11393G>C (p.Gly3798Ala)
c.11468G>C (p.Gly3823Ala)
n.410G>C
c.11465G>C (p.Gly3822Ala)
c.11390G>C (p.Gly3797Ala)
c.11090G>C (p.Gly3697Ala)
c.8354G>C (p.Gly2785Ala)
c.7247G>C (p.Gly2416Ala)
c.11273G>C (p.Gly3758Ala)
c.7025G>C (p.Gly2342Ala)
c.10253G>C (p.Gly3418Ala)
8g.99870785G>TCA371793534VPS13Bc.*562G>T (n.*562G>T)
n.11538G>T
c.*7150G>T (n.*7150G>T)
c.11393G>T (p.Gly3798Val)
c.11468G>T (p.Gly3823Val)
n.410G>T
c.11465G>T (p.Gly3822Val)
c.11390G>T (p.Gly3797Val)
c.11090G>T (p.Gly3697Val)
c.8354G>T (p.Gly2785Val)
c.7247G>T (p.Gly2416Val)
c.11273G>T (p.Gly3758Val)
c.7025G>T (p.Gly2342Val)
c.10253G>T (p.Gly3418Val)
8g.99870786T>ACA462339594VPS13Bc.*563T>A (n.*563T>A)
n.11539T>A
c.*7151T>A (n.*7151T>A)
c.11394T>A (p.Gly3798=)
c.11469T>A (p.Gly3823=)
n.411T>A
c.11466T>A (p.Gly3822=)
c.11391T>A (p.Gly3797=)
c.11091T>A (p.Gly3697=)
c.8355T>A (p.Gly2785=)
c.7248T>A (p.Gly2416=)
c.11274T>A (p.Gly3758=)
c.7026T>A (p.Gly2342=)
c.10254T>A (p.Gly3418=)
8g.99870786T>CCA462339596VPS13Bc.*563T>C (n.*563T>C)
n.11539T>C
c.*7151T>C (n.*7151T>C)
c.11394T>C (p.Gly3798=)
c.11469T>C (p.Gly3823=)
n.411T>C
c.11466T>C (p.Gly3822=)
c.11391T>C (p.Gly3797=)
c.11091T>C (p.Gly3697=)
c.8355T>C (p.Gly2785=)
c.7248T>C (p.Gly2416=)
c.11274T>C (p.Gly3758=)
c.7026T>C (p.Gly2342=)
c.10254T>C (p.Gly3418=)
 ClinVar dbSNP
8g.99870786T>GCA462339595VPS13Bc.*563T>G (n.*563T>G)
n.11539T>G
c.*7151T>G (n.*7151T>G)
c.11394T>G (p.Gly3798=)
c.11469T>G (p.Gly3823=)
n.411T>G
c.11466T>G (p.Gly3822=)
c.11391T>G (p.Gly3797=)
c.11091T>G (p.Gly3697=)
c.8355T>G (p.Gly2785=)
c.7248T>G (p.Gly2416=)
c.11274T>G (p.Gly3758=)
c.7026T>G (p.Gly2342=)
c.10254T>G (p.Gly3418=)
8g.99870787A>CCA371793536VPS13Bc.*564A>C (n.*564A>C)
n.11540A>C
c.*7152A>C (n.*7152A>C)
c.11395A>C (p.Ile3799Leu)
c.11470A>C (p.Ile3824Leu)
n.412A>C
c.11467A>C (p.Ile3823Leu)
c.11392A>C (p.Ile3798Leu)
c.11092A>C (p.Ile3698Leu)
c.8356A>C (p.Ile2786Leu)
c.7249A>C (p.Ile2417Leu)
c.11275A>C (p.Ile3759Leu)
c.7027A>C (p.Ile2343Leu)
c.10255A>C (p.Ile3419Leu)
8g.99870787A>GCA371793537VPS13Bc.*564A>G (n.*564A>G)
n.11540A>G
c.*7152A>G (n.*7152A>G)
c.11395A>G (p.Ile3799Val)
c.11470A>G (p.Ile3824Val)
n.412A>G
c.11467A>G (p.Ile3823Val)
c.11392A>G (p.Ile3798Val)
c.11092A>G (p.Ile3698Val)
c.8356A>G (p.Ile2786Val)
c.7249A>G (p.Ile2417Val)
c.11275A>G (p.Ile3759Val)
c.7027A>G (p.Ile2343Val)
c.10255A>G (p.Ile3419Val)
8g.99870787A>TCA371793538VPS13Bc.*564A>T (n.*564A>T)
n.11540A>T
c.*7152A>T (n.*7152A>T)
c.11395A>T (p.Ile3799Phe)
c.11470A>T (p.Ile3824Phe)
n.412A>T
c.11467A>T (p.Ile3823Phe)
c.11392A>T (p.Ile3798Phe)
c.11092A>T (p.Ile3698Phe)
c.8356A>T (p.Ile2786Phe)
c.7249A>T (p.Ile2417Phe)
c.11275A>T (p.Ile3759Phe)
c.7027A>T (p.Ile2343Phe)
c.10255A>T (p.Ile3419Phe)
8g.99870788T>ACA371793539VPS13Bc.*565T>A (n.*565T>A)
n.11541T>A
c.*7153T>A (n.*7153T>A)
c.11396T>A (p.Ile3799Asn)
c.11471T>A (p.Ile3824Asn)
n.413T>A
c.11468T>A (p.Ile3823Asn)
c.11393T>A (p.Ile3798Asn)
c.11093T>A (p.Ile3698Asn)
c.8357T>A (p.Ile2786Asn)
c.7250T>A (p.Ile2417Asn)
c.11276T>A (p.Ile3759Asn)
c.7028T>A (p.Ile2343Asn)
c.10256T>A (p.Ile3419Asn)
8g.99870788T>CCA371793540VPS13Bc.*565T>C (n.*565T>C)
n.11541T>C
c.*7153T>C (n.*7153T>C)
c.11396T>C (p.Ile3799Thr)
c.11471T>C (p.Ile3824Thr)
n.413T>C
c.11468T>C (p.Ile3823Thr)
c.11393T>C (p.Ile3798Thr)
c.11093T>C (p.Ile3698Thr)
c.8357T>C (p.Ile2786Thr)
c.7250T>C (p.Ile2417Thr)
c.11276T>C (p.Ile3759Thr)
c.7028T>C (p.Ile2343Thr)
c.10256T>C (p.Ile3419Thr)
8g.99870788T>GCA371793541VPS13Bc.*565T>G (n.*565T>G)
n.11541T>G
c.*7153T>G (n.*7153T>G)
c.11396T>G (p.Ile3799Ser)
c.11471T>G (p.Ile3824Ser)
n.413T>G
c.11468T>G (p.Ile3823Ser)
c.11393T>G (p.Ile3798Ser)
c.11093T>G (p.Ile3698Ser)
c.8357T>G (p.Ile2786Ser)
c.7250T>G (p.Ile2417Ser)
c.11276T>G (p.Ile3759Ser)
c.7028T>G (p.Ile2343Ser)
c.10256T>G (p.Ile3419Ser)
8g.99870789T>ACA462339597VPS13Bc.*566T>A (n.*566T>A)
n.11542T>A
c.*7154T>A (n.*7154T>A)
c.11397T>A (p.Ile3799=)
c.11472T>A (p.Ile3824=)
n.414T>A
c.11469T>A (p.Ile3823=)
c.11394T>A (p.Ile3798=)
c.11094T>A (p.Ile3698=)
c.8358T>A (p.Ile2786=)
c.7251T>A (p.Ile2417=)
c.11277T>A (p.Ile3759=)
c.7029T>A (p.Ile2343=)
c.10257T>A (p.Ile3419=)
8g.99870789T>CCA462339598VPS13Bc.*566T>C (n.*566T>C)
n.11542T>C
c.*7154T>C (n.*7154T>C)
c.11397T>C (p.Ile3799=)
c.11472T>C (p.Ile3824=)
n.414T>C
c.11469T>C (p.Ile3823=)
c.11394T>C (p.Ile3798=)
c.11094T>C (p.Ile3698=)
c.8358T>C (p.Ile2786=)
c.7251T>C (p.Ile2417=)
c.11277T>C (p.Ile3759=)
c.7029T>C (p.Ile2343=)
c.10257T>C (p.Ile3419=)
 dbSNP
8g.99870789T>GCA371793542VPS13Bc.*566T>G (n.*566T>G)
n.11542T>G
c.*7154T>G (n.*7154T>G)
c.11397T>G (p.Ile3799Met)
c.11472T>G (p.Ile3824Met)
n.414T>G
c.11469T>G (p.Ile3823Met)
c.11394T>G (p.Ile3798Met)
c.11094T>G (p.Ile3698Met)
c.8358T>G (p.Ile2786Met)
c.7251T>G (p.Ile2417Met)
c.11277T>G (p.Ile3759Met)
c.7029T>G (p.Ile2343Met)
c.10257T>G (p.Ile3419Met)
8g.99870790T>ACA371793543VPS13Bc.*567T>A (n.*567T>A)
n.11543T>A
c.*7155T>A (n.*7155T>A)
c.11398T>A (p.Leu3800Ile)
c.11473T>A (p.Leu3825Ile)
n.415T>A
c.11470T>A (p.Leu3824Ile)
c.11395T>A (p.Leu3799Ile)
c.11095T>A (p.Leu3699Ile)
c.8359T>A (p.Leu2787Ile)
c.7252T>A (p.Leu2418Ile)
c.11278T>A (p.Leu3760Ile)
c.7030T>A (p.Leu2344Ile)
c.10258T>A (p.Leu3420Ile)
8g.99870790T>CCA462339599VPS13Bc.*567T>C (n.*567T>C)
n.11543T>C
c.*7155T>C (n.*7155T>C)
c.11398T>C (p.Leu3800=)
c.11473T>C (p.Leu3825=)
n.415T>C
c.11470T>C (p.Leu3824=)
c.11395T>C (p.Leu3799=)
c.11095T>C (p.Leu3699=)
c.8359T>C (p.Leu2787=)
c.7252T>C (p.Leu2418=)
c.11278T>C (p.Leu3760=)
c.7030T>C (p.Leu2344=)
c.10258T>C (p.Leu3420=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99870790T>GCA371793544VPS13Bc.*567T>G (n.*567T>G)
n.11543T>G
c.*7155T>G (n.*7155T>G)
c.11398T>G (p.Leu3800Val)
c.11473T>G (p.Leu3825Val)
n.415T>G
c.11470T>G (p.Leu3824Val)
c.11395T>G (p.Leu3799Val)
c.11095T>G (p.Leu3699Val)
c.8359T>G (p.Leu2787Val)
c.7252T>G (p.Leu2418Val)
c.11278T>G (p.Leu3760Val)
c.7030T>G (p.Leu2344Val)
c.10258T>G (p.Leu3420Val)
8g.99870791T>ACA371793545VPS13Bc.*568T>A (n.*568T>A)
n.11544T>A
c.*7156T>A (n.*7156T>A)
c.11399T>A (p.Leu3800Ter)
c.11474T>A (p.Leu3825Ter)
n.416T>A
c.11471T>A (p.Leu3824Ter)
c.11396T>A (p.Leu3799Ter)
c.11096T>A (p.Leu3699Ter)
c.8360T>A (p.Leu2787Ter)
c.7253T>A (p.Leu2418Ter)
c.11279T>A (p.Leu3760Ter)
c.7031T>A (p.Leu2344Ter)
c.10259T>A (p.Leu3420Ter)
8g.99870791T>CCA371793546VPS13Bc.*568T>C (n.*568T>C)
n.11544T>C
c.*7156T>C (n.*7156T>C)
c.11399T>C (p.Leu3800Ser)
c.11474T>C (p.Leu3825Ser)
n.416T>C
c.11471T>C (p.Leu3824Ser)
c.11396T>C (p.Leu3799Ser)
c.11096T>C (p.Leu3699Ser)
c.8360T>C (p.Leu2787Ser)
c.7253T>C (p.Leu2418Ser)
c.11279T>C (p.Leu3760Ser)
c.7031T>C (p.Leu2344Ser)
c.10259T>C (p.Leu3420Ser)
 gnomAD v4
8g.99870791T>GCA371793547VPS13Bc.*568T>G (n.*568T>G)
n.11544T>G
c.*7156T>G (n.*7156T>G)
c.11399T>G (p.Leu3800Ter)
c.11474T>G (p.Leu3825Ter)
n.416T>G
c.11471T>G (p.Leu3824Ter)
c.11396T>G (p.Leu3799Ter)
c.11096T>G (p.Leu3699Ter)
c.8360T>G (p.Leu2787Ter)
c.7253T>G (p.Leu2418Ter)
c.11279T>G (p.Leu3760Ter)
c.7031T>G (p.Leu2344Ter)
c.10259T>G (p.Leu3420Ter)
8g.99870792A>CCA371793549VPS13Bc.*569A>C (n.*569A>C)
n.11545A>C
c.*7157A>C (n.*7157A>C)
c.11400A>C (p.Leu3800Phe)
c.11475A>C (p.Leu3825Phe)
n.417A>C
c.11472A>C (p.Leu3824Phe)
c.11397A>C (p.Leu3799Phe)
c.11097A>C (p.Leu3699Phe)
c.8361A>C (p.Leu2787Phe)
c.7254A>C (p.Leu2418Phe)
c.11280A>C (p.Leu3760Phe)
c.7032A>C (p.Leu2344Phe)
c.10260A>C (p.Leu3420Phe)
8g.99870792A>GCA462339600VPS13Bc.*569A>G (n.*569A>G)
n.11545A>G
c.*7157A>G (n.*7157A>G)
c.11400A>G (p.Leu3800=)
c.11475A>G (p.Leu3825=)
n.417A>G
c.11472A>G (p.Leu3824=)
c.11397A>G (p.Leu3799=)
c.11097A>G (p.Leu3699=)
c.8361A>G (p.Leu2787=)
c.7254A>G (p.Leu2418=)
c.11280A>G (p.Leu3760=)
c.7032A>G (p.Leu2344=)
c.10260A>G (p.Leu3420=)
 COSMIC
8g.99870792A>TCA371793548VPS13Bc.*569A>T (n.*569A>T)
n.11545A>T
c.*7157A>T (n.*7157A>T)
c.11400A>T (p.Leu3800Phe)
c.11475A>T (p.Leu3825Phe)
n.417A>T
c.11472A>T (p.Leu3824Phe)
c.11397A>T (p.Leu3799Phe)
c.11097A>T (p.Leu3699Phe)
c.8361A>T (p.Leu2787Phe)
c.7254A>T (p.Leu2418Phe)
c.11280A>T (p.Leu3760Phe)
c.7032A>T (p.Leu2344Phe)
c.10260A>T (p.Leu3420Phe)
8g.99870793C>ACA371793550VPS13Bc.*570C>A (n.*570C>A)
n.11546C>A
c.*7158C>A (n.*7158C>A)
c.11401C>A (p.His3801Asn)
c.11476C>A (p.His3826Asn)
n.418C>A
c.11473C>A (p.His3825Asn)
c.11398C>A (p.His3800Asn)
c.11098C>A (p.His3700Asn)
c.8362C>A (p.His2788Asn)
c.7255C>A (p.His2419Asn)
c.11281C>A (p.His3761Asn)
c.7033C>A (p.His2345Asn)
c.10261C>A (p.His3421Asn)
8g.99870793C>GCA371793551VPS13Bc.*570C>G (n.*570C>G)
n.11546C>G
c.*7158C>G (n.*7158C>G)
c.11401C>G (p.His3801Asp)
c.11476C>G (p.His3826Asp)
n.418C>G
c.11473C>G (p.His3825Asp)
c.11398C>G (p.His3800Asp)
c.11098C>G (p.His3700Asp)
c.8362C>G (p.His2788Asp)
c.7255C>G (p.His2419Asp)
c.11281C>G (p.His3761Asp)
c.7033C>G (p.His2345Asp)
c.10261C>G (p.His3421Asp)
8g.99870793C>TCA371793552VPS13Bc.*570C>T (n.*570C>T)
n.11546C>T
c.*7158C>T (n.*7158C>T)
c.11401C>T (p.His3801Tyr)
c.11476C>T (p.His3826Tyr)
n.418C>T
c.11473C>T (p.His3825Tyr)
c.11398C>T (p.His3800Tyr)
c.11098C>T (p.His3700Tyr)
c.8362C>T (p.His2788Tyr)
c.7255C>T (p.His2419Tyr)
c.11281C>T (p.His3761Tyr)
c.7033C>T (p.His2345Tyr)
c.10261C>T (p.His3421Tyr)
 ClinVar dbSNP COSMIC COSMIC
8g.99870794A>CCA371793553VPS13Bc.*571A>C (n.*571A>C)
n.11547A>C
c.*7159A>C (n.*7159A>C)
c.11402A>C (p.His3801Pro)
c.11477A>C (p.His3826Pro)
n.419A>C
c.11474A>C (p.His3825Pro)
c.11399A>C (p.His3800Pro)
c.11099A>C (p.His3700Pro)
c.8363A>C (p.His2788Pro)
c.7256A>C (p.His2419Pro)
c.11282A>C (p.His3761Pro)
c.7034A>C (p.His2345Pro)
c.10262A>C (p.His3421Pro)
8g.99870794A>GCA371793554VPS13Bc.*571A>G (n.*571A>G)
n.11547A>G
c.*7159A>G (n.*7159A>G)
c.11402A>G (p.His3801Arg)
c.11477A>G (p.His3826Arg)
n.419A>G
c.11474A>G (p.His3825Arg)
c.11399A>G (p.His3800Arg)
c.11099A>G (p.His3700Arg)
c.8363A>G (p.His2788Arg)
c.7256A>G (p.His2419Arg)
c.11282A>G (p.His3761Arg)
c.7034A>G (p.His2345Arg)
c.10262A>G (p.His3421Arg)
8g.99870794A>TCA371793555VPS13Bc.*571A>T (n.*571A>T)
n.11547A>T
c.*7159A>T (n.*7159A>T)
c.11402A>T (p.His3801Leu)
c.11477A>T (p.His3826Leu)
n.419A>T
c.11474A>T (p.His3825Leu)
c.11399A>T (p.His3800Leu)
c.11099A>T (p.His3700Leu)
c.8363A>T (p.His2788Leu)
c.7256A>T (p.His2419Leu)
c.11282A>T (p.His3761Leu)
c.7034A>T (p.His2345Leu)
c.10262A>T (p.His3421Leu)
8g.99870795T>ACA371793556VPS13Bc.*572T>A (n.*572T>A)
n.11548T>A
c.*7160T>A (n.*7160T>A)
c.11403T>A (p.His3801Gln)
c.11478T>A (p.His3826Gln)
n.420T>A
c.11475T>A (p.His3825Gln)
c.11400T>A (p.His3800Gln)
c.11100T>A (p.His3700Gln)
c.8364T>A (p.His2788Gln)
c.7257T>A (p.His2419Gln)
c.11283T>A (p.His3761Gln)
c.7035T>A (p.His2345Gln)
c.10263T>A (p.His3421Gln)
8g.99870795T>CCA4825239VPS13Bc.*572T>C (n.*572T>C)
n.11548T>C
c.*7160T>C (n.*7160T>C)
c.11403T>C (p.His3801=)
c.11478T>C (p.His3826=)
n.420T>C
c.11475T>C (p.His3825=)
c.11400T>C (p.His3800=)
c.11100T>C (p.His3700=)
c.8364T>C (p.His2788=)
c.7257T>C (p.His2419=)
c.11283T>C (p.His3761=)
c.7035T>C (p.His2345=)
c.10263T>C (p.His3421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870795T>GCA371793557VPS13Bc.*572T>G (n.*572T>G)
n.11548T>G
c.*7160T>G (n.*7160T>G)
c.11403T>G (p.His3801Gln)
c.11478T>G (p.His3826Gln)
n.420T>G
c.11475T>G (p.His3825Gln)
c.11400T>G (p.His3800Gln)
c.11100T>G (p.His3700Gln)
c.8364T>G (p.His2788Gln)
c.7257T>G (p.His2419Gln)
c.11283T>G (p.His3761Gln)
c.7035T>G (p.His2345Gln)
c.10263T>G (p.His3421Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.99870796G>ACA371793558VPS13Bc.*573G>A (n.*573G>A)
n.11549G>A
c.*7161G>A (n.*7161G>A)
c.11404G>A (p.Gly3802Arg)
c.11479G>A (p.Gly3827Arg)
n.421G>A
c.11476G>A (p.Gly3826Arg)
c.11401G>A (p.Gly3801Arg)
c.11101G>A (p.Gly3701Arg)
c.8365G>A (p.Gly2789Arg)
c.7258G>A (p.Gly2420Arg)
c.11284G>A (p.Gly3762Arg)
c.7036G>A (p.Gly2346Arg)
c.10264G>A (p.Gly3422Arg)
8g.99870796G>CCA371793559VPS13Bc.*573G>C (n.*573G>C)
n.11549G>C
c.*7161G>C (n.*7161G>C)
c.11404G>C (p.Gly3802Arg)
c.11479G>C (p.Gly3827Arg)
n.421G>C
c.11476G>C (p.Gly3826Arg)
c.11401G>C (p.Gly3801Arg)
c.11101G>C (p.Gly3701Arg)
c.8365G>C (p.Gly2789Arg)
c.7258G>C (p.Gly2420Arg)
c.11284G>C (p.Gly3762Arg)
c.7036G>C (p.Gly2346Arg)
c.10264G>C (p.Gly3422Arg)
8g.99870796G>TCA371793560VPS13Bc.*573G>T (n.*573G>T)
n.11549G>T
c.*7161G>T (n.*7161G>T)
c.11404G>T (p.Gly3802Ter)
c.11479G>T (p.Gly3827Ter)
n.421G>T
c.11476G>T (p.Gly3826Ter)
c.11401G>T (p.Gly3801Ter)
c.11101G>T (p.Gly3701Ter)
c.8365G>T (p.Gly2789Ter)
c.7258G>T (p.Gly2420Ter)
c.11284G>T (p.Gly3762Ter)
c.7036G>T (p.Gly2346Ter)
c.10264G>T (p.Gly3422Ter)
8g.99870797G>ACA371793563VPS13Bc.*574G>A (n.*574G>A)
n.11550G>A
c.*7162G>A (n.*7162G>A)
c.11405G>A (p.Gly3802Glu)
c.11480G>A (p.Gly3827Glu)
n.422G>A
c.11477G>A (p.Gly3826Glu)
c.11402G>A (p.Gly3801Glu)
c.11102G>A (p.Gly3701Glu)
c.8366G>A (p.Gly2789Glu)
c.7259G>A (p.Gly2420Glu)
c.11285G>A (p.Gly3762Glu)
c.7037G>A (p.Gly2346Glu)
c.10265G>A (p.Gly3422Glu)
8g.99870797G>CCA371793562VPS13Bc.*574G>C (n.*574G>C)
n.11550G>C
c.*7162G>C (n.*7162G>C)
c.11405G>C (p.Gly3802Ala)
c.11480G>C (p.Gly3827Ala)
n.422G>C
c.11477G>C (p.Gly3826Ala)
c.11402G>C (p.Gly3801Ala)
c.11102G>C (p.Gly3701Ala)
c.8366G>C (p.Gly2789Ala)
c.7259G>C (p.Gly2420Ala)
c.11285G>C (p.Gly3762Ala)
c.7037G>C (p.Gly2346Ala)
c.10265G>C (p.Gly3422Ala)
 gnomAD v4
8g.99870797G>TCA371793561VPS13Bc.*574G>T (n.*574G>T)
n.11550G>T
c.*7162G>T (n.*7162G>T)
c.11405G>T (p.Gly3802Val)
c.11480G>T (p.Gly3827Val)
n.422G>T
c.11477G>T (p.Gly3826Val)
c.11402G>T (p.Gly3801Val)
c.11102G>T (p.Gly3701Val)
c.8366G>T (p.Gly2789Val)
c.7259G>T (p.Gly2420Val)
c.11285G>T (p.Gly3762Val)
c.7037G>T (p.Gly2346Val)
c.10265G>T (p.Gly3422Val)
8g.99870798A>CCA462339607VPS13Bc.*575A>C (n.*575A>C)
n.11551A>C
c.*7163A>C (n.*7163A>C)
c.11406A>C (p.Gly3802=)
c.11481A>C (p.Gly3827=)
n.423A>C
c.11478A>C (p.Gly3826=)
c.11403A>C (p.Gly3801=)
c.11103A>C (p.Gly3701=)
c.8367A>C (p.Gly2789=)
c.7260A>C (p.Gly2420=)
c.11286A>C (p.Gly3762=)
c.7038A>C (p.Gly2346=)
c.10266A>C (p.Gly3422=)
8g.99870798A>GCA462339608VPS13Bc.*575A>G (n.*575A>G)
n.11551A>G
c.*7163A>G (n.*7163A>G)
c.11406A>G (p.Gly3802=)
c.11481A>G (p.Gly3827=)
n.423A>G
c.11478A>G (p.Gly3826=)
c.11403A>G (p.Gly3801=)
c.11103A>G (p.Gly3701=)
c.8367A>G (p.Gly2789=)
c.7260A>G (p.Gly2420=)
c.11286A>G (p.Gly3762=)
c.7038A>G (p.Gly2346=)
c.10266A>G (p.Gly3422=)
 dbSNP gnomAD v2 gnomAD v4
8g.99870798A>TCA462339609VPS13Bc.*575A>T (n.*575A>T)
n.11551A>T
c.*7163A>T (n.*7163A>T)
c.11406A>T (p.Gly3802=)
c.11481A>T (p.Gly3827=)
n.423A>T
c.11478A>T (p.Gly3826=)
c.11403A>T (p.Gly3801=)
c.11103A>T (p.Gly3701=)
c.8367A>T (p.Gly2789=)
c.7260A>T (p.Gly2420=)
c.11286A>T (p.Gly3762=)
c.7038A>T (p.Gly2346=)
c.10266A>T (p.Gly3422=)
8g.99870799G>ACA371793564VPS13Bc.*576G>A (n.*576G>A)
n.11552G>A
c.*7164G>A (n.*7164G>A)
c.11407G>A (p.Ala3803Thr)
c.11482G>A (p.Ala3828Thr)
n.424G>A
c.11479G>A (p.Ala3827Thr)
c.11404G>A (p.Ala3802Thr)
c.11104G>A (p.Ala3702Thr)
c.8368G>A (p.Ala2790Thr)
c.7261G>A (p.Ala2421Thr)
c.11287G>A (p.Ala3763Thr)
c.7039G>A (p.Ala2347Thr)
c.10267G>A (p.Ala3423Thr)
8g.99870799G>CCA371793565VPS13Bc.*576G>C (n.*576G>C)
n.11552G>C
c.*7164G>C (n.*7164G>C)
c.11407G>C (p.Ala3803Pro)
c.11482G>C (p.Ala3828Pro)
n.424G>C
c.11479G>C (p.Ala3827Pro)
c.11404G>C (p.Ala3802Pro)
c.11104G>C (p.Ala3702Pro)
c.8368G>C (p.Ala2790Pro)
c.7261G>C (p.Ala2421Pro)
c.11287G>C (p.Ala3763Pro)
c.7039G>C (p.Ala2347Pro)
c.10267G>C (p.Ala3423Pro)
8g.99870799G>TCA371793566VPS13Bc.*576G>T (n.*576G>T)
n.11552G>T
c.*7164G>T (n.*7164G>T)
c.11407G>T (p.Ala3803Ser)
c.11482G>T (p.Ala3828Ser)
n.424G>T
c.11479G>T (p.Ala3827Ser)
c.11404G>T (p.Ala3802Ser)
c.11104G>T (p.Ala3702Ser)
c.8368G>T (p.Ala2790Ser)
c.7261G>T (p.Ala2421Ser)
c.11287G>T (p.Ala3763Ser)
c.7039G>T (p.Ala2347Ser)
c.10267G>T (p.Ala3423Ser)
8g.99870800C>ACA371793567VPS13Bc.*577C>A (n.*577C>A)
n.11553C>A
c.*7165C>A (n.*7165C>A)
c.11408C>A (p.Ala3803Asp)
c.11483C>A (p.Ala3828Asp)
n.425C>A
c.11480C>A (p.Ala3827Asp)
c.11405C>A (p.Ala3802Asp)
c.11105C>A (p.Ala3702Asp)
c.8369C>A (p.Ala2790Asp)
c.7262C>A (p.Ala2421Asp)
c.11288C>A (p.Ala3763Asp)
c.7040C>A (p.Ala2347Asp)
c.10268C>A (p.Ala3423Asp)
8g.99870800C>GCA371793568VPS13Bc.*577C>G (n.*577C>G)
n.11553C>G
c.*7165C>G (n.*7165C>G)
c.11408C>G (p.Ala3803Gly)
c.11483C>G (p.Ala3828Gly)
n.425C>G
c.11480C>G (p.Ala3827Gly)
c.11405C>G (p.Ala3802Gly)
c.11105C>G (p.Ala3702Gly)
c.8369C>G (p.Ala2790Gly)
c.7262C>G (p.Ala2421Gly)
c.11288C>G (p.Ala3763Gly)
c.7040C>G (p.Ala2347Gly)
c.10268C>G (p.Ala3423Gly)
 dbSNP
8g.99870800C>TCA371793569VPS13Bc.*577C>T (n.*577C>T)
n.11553C>T
c.*7165C>T (n.*7165C>T)
c.11408C>T (p.Ala3803Val)
c.11483C>T (p.Ala3828Val)
n.425C>T
c.11480C>T (p.Ala3827Val)
c.11405C>T (p.Ala3802Val)
c.11105C>T (p.Ala3702Val)
c.8369C>T (p.Ala2790Val)
c.7262C>T (p.Ala2421Val)
c.11288C>T (p.Ala3763Val)
c.7040C>T (p.Ala2347Val)
c.10268C>T (p.Ala3423Val)
8g.99870801T>ACA462339615VPS13Bc.*578T>A (n.*578T>A)
n.11554T>A
c.*7166T>A (n.*7166T>A)
c.11409T>A (p.Ala3803=)
c.11484T>A (p.Ala3828=)
n.426T>A
c.11481T>A (p.Ala3827=)
c.11406T>A (p.Ala3802=)
c.11106T>A (p.Ala3702=)
c.8370T>A (p.Ala2790=)
c.7263T>A (p.Ala2421=)
c.11289T>A (p.Ala3763=)
c.7041T>A (p.Ala2347=)
c.10269T>A (p.Ala3423=)
 ClinVar dbSNP
8g.99870801T>CCA462339613VPS13Bc.*578T>C (n.*578T>C)
n.11554T>C
c.*7166T>C (n.*7166T>C)
c.11409T>C (p.Ala3803=)
c.11484T>C (p.Ala3828=)
n.426T>C
c.11481T>C (p.Ala3827=)
c.11406T>C (p.Ala3802=)
c.11106T>C (p.Ala3702=)
c.8370T>C (p.Ala2790=)
c.7263T>C (p.Ala2421=)
c.11289T>C (p.Ala3763=)
c.7041T>C (p.Ala2347=)
c.10269T>C (p.Ala3423=)
8g.99870801T>GCA462339614VPS13Bc.*578T>G (n.*578T>G)
n.11554T>G
c.*7166T>G (n.*7166T>G)
c.11409T>G (p.Ala3803=)
c.11484T>G (p.Ala3828=)
n.426T>G
c.11481T>G (p.Ala3827=)
c.11406T>G (p.Ala3802=)
c.11106T>G (p.Ala3702=)
c.8370T>G (p.Ala2790=)
c.7263T>G (p.Ala2421=)
c.11289T>G (p.Ala3763=)
c.7041T>G (p.Ala2347=)
c.10269T>G (p.Ala3423=)
8g.99870802G>ACA371793570VPS13Bc.*579G>A (n.*579G>A)
n.11555G>A
c.*7167G>A (n.*7167G>A)
c.11410G>A (p.Gly3804Arg)
c.11485G>A (p.Gly3829Arg)
n.427G>A
c.11482G>A (p.Gly3828Arg)
c.11407G>A (p.Gly3803Arg)
c.11107G>A (p.Gly3703Arg)
c.8371G>A (p.Gly2791Arg)
c.7264G>A (p.Gly2422Arg)
c.11290G>A (p.Gly3764Arg)
c.7042G>A (p.Gly2348Arg)
c.10270G>A (p.Gly3424Arg)
 gnomAD v4
8g.99870802G>CCA371793571VPS13Bc.*579G>C (n.*579G>C)
n.11555G>C
c.*7167G>C (n.*7167G>C)
c.11410G>C (p.Gly3804Arg)
c.11485G>C (p.Gly3829Arg)
n.427G>C
c.11482G>C (p.Gly3828Arg)
c.11407G>C (p.Gly3803Arg)
c.11107G>C (p.Gly3703Arg)
c.8371G>C (p.Gly2791Arg)
c.7264G>C (p.Gly2422Arg)
c.11290G>C (p.Gly3764Arg)
c.7042G>C (p.Gly2348Arg)
c.10270G>C (p.Gly3424Arg)
8g.99870802G>TCA371793572VPS13Bc.*579G>T (n.*579G>T)
n.11555G>T
c.*7167G>T (n.*7167G>T)
c.11410G>T (p.Gly3804Ter)
c.11485G>T (p.Gly3829Ter)
n.427G>T
c.11482G>T (p.Gly3828Ter)
c.11407G>T (p.Gly3803Ter)
c.11107G>T (p.Gly3703Ter)
c.8371G>T (p.Gly2791Ter)
c.7264G>T (p.Gly2422Ter)
c.11290G>T (p.Gly3764Ter)
c.7042G>T (p.Gly2348Ter)
c.10270G>T (p.Gly3424Ter)
8g.99870803dupCA915948828VPS13Bc.*580dup (n.*580dup)
n.11556dup
c.*7168dup (n.*7168dup)
c.11411dup (p.Leu3805ThrfsTer13)
c.11486dup (p.Leu3830ThrfsTer13)
n.428dup
c.11483dup (p.Leu3829ThrfsTer13)
c.11408dup (p.Leu3804ThrfsTer13)
c.11108dup (p.Leu3704ThrfsTer13)
c.8372dup (p.Leu2792ThrfsTer13)
c.7265dup (p.Leu2423ThrfsTer13)
c.11291dup (p.Leu3765ThrfsTer13)
c.7043dup (p.Leu2349ThrfsTer13)
c.10271dup (p.Leu3425ThrfsTer13)
 ClinVar dbSNP
8g.99870803G>ACA371793573VPS13Bc.*580G>A (n.*580G>A)
n.11556G>A
c.*7168G>A (n.*7168G>A)
c.11411G>A (p.Gly3804Glu)
c.11486G>A (p.Gly3829Glu)
n.428G>A
c.11483G>A (p.Gly3828Glu)
c.11408G>A (p.Gly3803Glu)
c.11108G>A (p.Gly3703Glu)
c.8372G>A (p.Gly2791Glu)
c.7265G>A (p.Gly2422Glu)
c.11291G>A (p.Gly3764Glu)
c.7043G>A (p.Gly2348Glu)
c.10271G>A (p.Gly3424Glu)
 dbSNP
8g.99870803G>CCA371793574VPS13Bc.*580G>C (n.*580G>C)
n.11556G>C
c.*7168G>C (n.*7168G>C)
c.11411G>C (p.Gly3804Ala)
c.11486G>C (p.Gly3829Ala)
n.428G>C
c.11483G>C (p.Gly3828Ala)
c.11408G>C (p.Gly3803Ala)
c.11108G>C (p.Gly3703Ala)
c.8372G>C (p.Gly2791Ala)
c.7265G>C (p.Gly2422Ala)
c.11291G>C (p.Gly3764Ala)
c.7043G>C (p.Gly2348Ala)
c.10271G>C (p.Gly3424Ala)
 dbSNP
8g.99870803G>TCA371793575VPS13Bc.*580G>T (n.*580G>T)
n.11556G>T
c.*7168G>T (n.*7168G>T)
c.11411G>T (p.Gly3804Val)
c.11486G>T (p.Gly3829Val)
n.428G>T
c.11483G>T (p.Gly3828Val)
c.11408G>T (p.Gly3803Val)
c.11108G>T (p.Gly3703Val)
c.8372G>T (p.Gly2791Val)
c.7265G>T (p.Gly2422Val)
c.11291G>T (p.Gly3764Val)
c.7043G>T (p.Gly2348Val)
c.10271G>T (p.Gly3424Val)
8g.99870804A>CCA462339617VPS13Bc.*581A>C (n.*581A>C)
n.11557A>C
c.*7169A>C (n.*7169A>C)
c.11412A>C (p.Gly3804=)
c.11487A>C (p.Gly3829=)
n.429A>C
c.11484A>C (p.Gly3828=)
c.11409A>C (p.Gly3803=)
c.11109A>C (p.Gly3703=)
c.8373A>C (p.Gly2791=)
c.7266A>C (p.Gly2422=)
c.11292A>C (p.Gly3764=)
c.7044A>C (p.Gly2348=)
c.10272A>C (p.Gly3424=)
8g.99870804A>GCA462339618VPS13Bc.*581A>G (n.*581A>G)
n.11557A>G
c.*7169A>G (n.*7169A>G)
c.11412A>G (p.Gly3804=)
c.11487A>G (p.Gly3829=)
n.429A>G
c.11484A>G (p.Gly3828=)
c.11409A>G (p.Gly3803=)
c.11109A>G (p.Gly3703=)
c.8373A>G (p.Gly2791=)
c.7266A>G (p.Gly2422=)
c.11292A>G (p.Gly3764=)
c.7044A>G (p.Gly2348=)
c.10272A>G (p.Gly3424=)
8g.99870804A>TCA462339619VPS13Bc.*581A>T (n.*581A>T)
n.11557A>T
c.*7169A>T (n.*7169A>T)
c.11412A>T (p.Gly3804=)
c.11487A>T (p.Gly3829=)
n.429A>T
c.11484A>T (p.Gly3828=)
c.11409A>T (p.Gly3803=)
c.11109A>T (p.Gly3703=)
c.8373A>T (p.Gly2791=)
c.7266A>T (p.Gly2422=)
c.11292A>T (p.Gly3764=)
c.7044A>T (p.Gly2348=)
c.10272A>T (p.Gly3424=)
8g.99870805C>ACA371793578VPS13Bc.*582C>A (n.*582C>A)
n.11558C>A
c.*7170C>A (n.*7170C>A)
c.11413C>A (p.Leu3805Ile)
c.11488C>A (p.Leu3830Ile)
n.430C>A
c.11485C>A (p.Leu3829Ile)
c.11410C>A (p.Leu3804Ile)
c.11110C>A (p.Leu3704Ile)
c.8374C>A (p.Leu2792Ile)
c.7267C>A (p.Leu2423Ile)
c.11293C>A (p.Leu3765Ile)
c.7045C>A (p.Leu2349Ile)
c.10273C>A (p.Leu3425Ile)
8g.99870805C>GCA371793577VPS13Bc.*582C>G (n.*582C>G)
n.11558C>G
c.*7170C>G (n.*7170C>G)
c.11413C>G (p.Leu3805Val)
c.11488C>G (p.Leu3830Val)
n.430C>G
c.11485C>G (p.Leu3829Val)
c.11410C>G (p.Leu3804Val)
c.11110C>G (p.Leu3704Val)
c.8374C>G (p.Leu2792Val)
c.7267C>G (p.Leu2423Val)
c.11293C>G (p.Leu3765Val)
c.7045C>G (p.Leu2349Val)
c.10273C>G (p.Leu3425Val)
8g.99870805C>TCA371793576VPS13Bc.*582C>T (n.*582C>T)
n.11558C>T
c.*7170C>T (n.*7170C>T)
c.11413C>T (p.Leu3805Phe)
c.11488C>T (p.Leu3830Phe)
n.430C>T
c.11485C>T (p.Leu3829Phe)
c.11410C>T (p.Leu3804Phe)
c.11110C>T (p.Leu3704Phe)
c.8374C>T (p.Leu2792Phe)
c.7267C>T (p.Leu2423Phe)
c.11293C>T (p.Leu3765Phe)
c.7045C>T (p.Leu2349Phe)
c.10273C>T (p.Leu3425Phe)
8g.99870805_99870806delCA2580079248VPS13Bc.*582_*583del (n.*582_*583del)
n.11558_11559del
c.*7170_*7171del (n.*7170_*7171del)
c.11413_11414del (p.Leu3805PhefsTer12)
c.11488_11489del (p.Leu3830PhefsTer12)
n.430_431del
c.11485_11486del (p.Leu3829PhefsTer12)
c.11410_11411del (p.Leu3804PhefsTer12)
c.11110_11111del (p.Leu3704PhefsTer12)
c.8374_8375del (p.Leu2792PhefsTer12)
c.7267_7268del (p.Leu2423PhefsTer12)
c.11293_11294del (p.Leu3765PhefsTer12)
c.7045_7046del (p.Leu2349PhefsTer12)
c.10273_10274del (p.Leu3425PhefsTer12)
 ClinVar gnomAD v4
8g.99870806T>ACA371793579VPS13Bc.*583T>A (n.*583T>A)
n.11559T>A
c.*7171T>A (n.*7171T>A)
c.11414T>A (p.Leu3805His)
c.11489T>A (p.Leu3830His)
n.431T>A
c.11486T>A (p.Leu3829His)
c.11411T>A (p.Leu3804His)
c.11111T>A (p.Leu3704His)
c.8375T>A (p.Leu2792His)
c.7268T>A (p.Leu2423His)
c.11294T>A (p.Leu3765His)
c.7046T>A (p.Leu2349His)
c.10274T>A (p.Leu3425His)
8g.99870806T>CCA371793580VPS13Bc.*583T>C (n.*583T>C)
n.11559T>C
c.*7171T>C (n.*7171T>C)
c.11414T>C (p.Leu3805Pro)
c.11489T>C (p.Leu3830Pro)
n.431T>C
c.11486T>C (p.Leu3829Pro)
c.11411T>C (p.Leu3804Pro)
c.11111T>C (p.Leu3704Pro)
c.8375T>C (p.Leu2792Pro)
c.7268T>C (p.Leu2423Pro)
c.11294T>C (p.Leu3765Pro)
c.7046T>C (p.Leu2349Pro)
c.10274T>C (p.Leu3425Pro)
8g.99870806T>GCA371793581VPS13Bc.*583T>G (n.*583T>G)
n.11559T>G
c.*7171T>G (n.*7171T>G)
c.11414T>G (p.Leu3805Arg)
c.11489T>G (p.Leu3830Arg)
n.431T>G
c.11486T>G (p.Leu3829Arg)
c.11411T>G (p.Leu3804Arg)
c.11111T>G (p.Leu3704Arg)
c.8375T>G (p.Leu2792Arg)
c.7268T>G (p.Leu2423Arg)
c.11294T>G (p.Leu3765Arg)
c.7046T>G (p.Leu2349Arg)
c.10274T>G (p.Leu3425Arg)
8g.99870808dupCA2580079249VPS13Bc.*585dup (n.*585dup)
n.11561dup
c.*7173dup (n.*7173dup)
c.11416dup (p.Ser3806PhefsTer12)
c.11491dup (p.Ser3831PhefsTer12)
n.433dup
c.11488dup (p.Ser3830PhefsTer12)
c.11413dup (p.Ser3805PhefsTer12)
c.11113dup (p.Ser3705PhefsTer12)
c.8377dup (p.Ser2793PhefsTer12)
c.7270dup (p.Ser2424PhefsTer12)
c.11296dup (p.Ser3766PhefsTer12)
c.7048dup (p.Ser2350PhefsTer12)
c.10276dup (p.Ser3426PhefsTer12)
 ClinVar
8g.99870807T>ACA462339621VPS13Bc.*584T>A (n.*584T>A)
n.11560T>A
c.*7172T>A (n.*7172T>A)
c.11415T>A (p.Leu3805=)
c.11490T>A (p.Leu3830=)
n.432T>A
c.11487T>A (p.Leu3829=)
c.11412T>A (p.Leu3804=)
c.11112T>A (p.Leu3704=)
c.8376T>A (p.Leu2792=)
c.7269T>A (p.Leu2423=)
c.11295T>A (p.Leu3765=)
c.7047T>A (p.Leu2349=)
c.10275T>A (p.Leu3425=)
8g.99870807T>CCA462339622VPS13Bc.*584T>C (n.*584T>C)
n.11560T>C
c.*7172T>C (n.*7172T>C)
c.11415T>C (p.Leu3805=)
c.11490T>C (p.Leu3830=)
n.432T>C
c.11487T>C (p.Leu3829=)
c.11412T>C (p.Leu3804=)
c.11112T>C (p.Leu3704=)
c.8376T>C (p.Leu2792=)
c.7269T>C (p.Leu2423=)
c.11295T>C (p.Leu3765=)
c.7047T>C (p.Leu2349=)
c.10275T>C (p.Leu3425=)
8g.99870807T>GCA462339623VPS13Bc.*584T>G (n.*584T>G)
n.11560T>G
c.*7172T>G (n.*7172T>G)
c.11415T>G (p.Leu3805=)
c.11490T>G (p.Leu3830=)
n.432T>G
c.11487T>G (p.Leu3829=)
c.11412T>G (p.Leu3804=)
c.11112T>G (p.Leu3704=)
c.8376T>G (p.Leu2792=)
c.7269T>G (p.Leu2423=)
c.11295T>G (p.Leu3765=)
c.7047T>G (p.Leu2349=)
c.10275T>G (p.Leu3425=)
 ClinVar dbSNP COSMIC COSMIC
8g.99870808T>ACA371793582VPS13Bc.*585T>A (n.*585T>A)
n.11561T>A
c.*7173T>A (n.*7173T>A)
c.11416T>A (p.Ser3806Thr)
c.11491T>A (p.Ser3831Thr)
n.433T>A
c.11488T>A (p.Ser3830Thr)
c.11413T>A (p.Ser3805Thr)
c.11113T>A (p.Ser3705Thr)
c.8377T>A (p.Ser2793Thr)
c.7270T>A (p.Ser2424Thr)
c.11296T>A (p.Ser3766Thr)
c.7048T>A (p.Ser2350Thr)
c.10276T>A (p.Ser3426Thr)
8g.99870808T>CCA371793583VPS13Bc.*585T>C (n.*585T>C)
n.11561T>C
c.*7173T>C (n.*7173T>C)
c.11416T>C (p.Ser3806Pro)
c.11491T>C (p.Ser3831Pro)
n.433T>C
c.11488T>C (p.Ser3830Pro)
c.11413T>C (p.Ser3805Pro)
c.11113T>C (p.Ser3705Pro)
c.8377T>C (p.Ser2793Pro)
c.7270T>C (p.Ser2424Pro)
c.11296T>C (p.Ser3766Pro)
c.7048T>C (p.Ser2350Pro)
c.10276T>C (p.Ser3426Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99870808T>GCA371793584VPS13Bc.*585T>G (n.*585T>G)
n.11561T>G
c.*7173T>G (n.*7173T>G)
c.11416T>G (p.Ser3806Ala)
c.11491T>G (p.Ser3831Ala)
n.433T>G
c.11488T>G (p.Ser3830Ala)
c.11413T>G (p.Ser3805Ala)
c.11113T>G (p.Ser3705Ala)
c.8377T>G (p.Ser2793Ala)
c.7270T>G (p.Ser2424Ala)
c.11296T>G (p.Ser3766Ala)
c.7048T>G (p.Ser2350Ala)
c.10276T>G (p.Ser3426Ala)
 gnomAD v4
8g.99870809C>ACA371793585VPS13Bc.*586C>A (n.*586C>A)
n.11562C>A
c.*7174C>A (n.*7174C>A)
c.11417C>A (p.Ser3806Tyr)
c.11492C>A (p.Ser3831Tyr)
n.434C>A
c.11489C>A (p.Ser3830Tyr)
c.11414C>A (p.Ser3805Tyr)
c.11114C>A (p.Ser3705Tyr)
c.8378C>A (p.Ser2793Tyr)
c.7271C>A (p.Ser2424Tyr)
c.11297C>A (p.Ser3766Tyr)
c.7049C>A (p.Ser2350Tyr)
c.10277C>A (p.Ser3426Tyr)
8g.99870809C>GCA371793586VPS13Bc.*586C>G (n.*586C>G)
n.11562C>G
c.*7174C>G (n.*7174C>G)
c.11417C>G (p.Ser3806Cys)
c.11492C>G (p.Ser3831Cys)
n.434C>G
c.11489C>G (p.Ser3830Cys)
c.11414C>G (p.Ser3805Cys)
c.11114C>G (p.Ser3705Cys)
c.8378C>G (p.Ser2793Cys)
c.7271C>G (p.Ser2424Cys)
c.11297C>G (p.Ser3766Cys)
c.7049C>G (p.Ser2350Cys)
c.10277C>G (p.Ser3426Cys)
8g.99870809C>TCA371793587VPS13Bc.*586C>T (n.*586C>T)
n.11562C>T
c.*7174C>T (n.*7174C>T)
c.11417C>T (p.Ser3806Phe)
c.11492C>T (p.Ser3831Phe)
n.434C>T
c.11489C>T (p.Ser3830Phe)
c.11414C>T (p.Ser3805Phe)
c.11114C>T (p.Ser3705Phe)
c.8378C>T (p.Ser2793Phe)
c.7271C>T (p.Ser2424Phe)
c.11297C>T (p.Ser3766Phe)
c.7049C>T (p.Ser2350Phe)
c.10277C>T (p.Ser3426Phe)
 COSMIC COSMIC
8g.99870810T>ACA462339629VPS13Bc.*587T>A (n.*587T>A)
n.11563T>A
c.*7175T>A (n.*7175T>A)
c.11418T>A (p.Ser3806=)
c.11493T>A (p.Ser3831=)
n.435T>A
c.11490T>A (p.Ser3830=)
c.11415T>A (p.Ser3805=)
c.11115T>A (p.Ser3705=)
c.8379T>A (p.Ser2793=)
c.7272T>A (p.Ser2424=)
c.11298T>A (p.Ser3766=)
c.7050T>A (p.Ser2350=)
c.10278T>A (p.Ser3426=)
8g.99870810T>CCA462339630VPS13Bc.*587T>C (n.*587T>C)
n.11563T>C
c.*7175T>C (n.*7175T>C)
c.11418T>C (p.Ser3806=)
c.11493T>C (p.Ser3831=)
n.435T>C
c.11490T>C (p.Ser3830=)
c.11415T>C (p.Ser3805=)
c.11115T>C (p.Ser3705=)
c.8379T>C (p.Ser2793=)
c.7272T>C (p.Ser2424=)
c.11298T>C (p.Ser3766=)
c.7050T>C (p.Ser2350=)
c.10278T>C (p.Ser3426=)
 ClinVar dbSNP
8g.99870810T>GCA462339631VPS13Bc.*587T>G (n.*587T>G)
n.11563T>G
c.*7175T>G (n.*7175T>G)
c.11418T>G (p.Ser3806=)
c.11493T>G (p.Ser3831=)
n.435T>G
c.11490T>G (p.Ser3830=)
c.11415T>G (p.Ser3805=)
c.11115T>G (p.Ser3705=)
c.8379T>G (p.Ser2793=)
c.7272T>G (p.Ser2424=)
c.11298T>G (p.Ser3766=)
c.7050T>G (p.Ser2350=)
c.10278T>G (p.Ser3426=)
8g.99870811C>ACA371793588VPS13Bc.*588C>A (n.*588C>A)
n.11564C>A
c.*7176C>A (n.*7176C>A)
c.11419C>A (p.Gln3807Lys)
c.11494C>A (p.Gln3832Lys)
n.436C>A
c.11491C>A (p.Gln3831Lys)
c.11416C>A (p.Gln3806Lys)
c.11116C>A (p.Gln3706Lys)
c.8380C>A (p.Gln2794Lys)
c.7273C>A (p.Gln2425Lys)
c.11299C>A (p.Gln3767Lys)
c.7051C>A (p.Gln2351Lys)
c.10279C>A (p.Gln3427Lys)
 gnomAD v4
8g.99870811C>GCA371793589VPS13Bc.*588C>G (n.*588C>G)
n.11564C>G
c.*7176C>G (n.*7176C>G)
c.11419C>G (p.Gln3807Glu)
c.11494C>G (p.Gln3832Glu)
n.436C>G
c.11491C>G (p.Gln3831Glu)
c.11416C>G (p.Gln3806Glu)
c.11116C>G (p.Gln3706Glu)
c.8380C>G (p.Gln2794Glu)
c.7273C>G (p.Gln2425Glu)
c.11299C>G (p.Gln3767Glu)
c.7051C>G (p.Gln2351Glu)
c.10279C>G (p.Gln3427Glu)
8g.99870811C>TCA371793590VPS13Bc.*588C>T (n.*588C>T)
n.11564C>T
c.*7176C>T (n.*7176C>T)
c.11419C>T (p.Gln3807Ter)
c.11494C>T (p.Gln3832Ter)
n.436C>T
c.11491C>T (p.Gln3831Ter)
c.11416C>T (p.Gln3806Ter)
c.11116C>T (p.Gln3706Ter)
c.8380C>T (p.Gln2794Ter)
c.7273C>T (p.Gln2425Ter)
c.11299C>T (p.Gln3767Ter)
c.7051C>T (p.Gln2351Ter)
c.10279C>T (p.Gln3427Ter)
 ClinVar dbSNP gnomAD v4
8g.99870812A>CCA371793593VPS13Bc.*589A>C (n.*589A>C)
n.11565A>C
c.*7177A>C (n.*7177A>C)
c.11420A>C (p.Gln3807Pro)
c.11495A>C (p.Gln3832Pro)
n.437A>C
c.11492A>C (p.Gln3831Pro)
c.11417A>C (p.Gln3806Pro)
c.11117A>C (p.Gln3706Pro)
c.8381A>C (p.Gln2794Pro)
c.7274A>C (p.Gln2425Pro)
c.11300A>C (p.Gln3767Pro)
c.7052A>C (p.Gln2351Pro)
c.10280A>C (p.Gln3427Pro)
8g.99870812A>GCA371793592VPS13Bc.*589A>G (n.*589A>G)
n.11565A>G
c.*7177A>G (n.*7177A>G)
c.11420A>G (p.Gln3807Arg)
c.11495A>G (p.Gln3832Arg)
n.437A>G
c.11492A>G (p.Gln3831Arg)
c.11417A>G (p.Gln3806Arg)
c.11117A>G (p.Gln3706Arg)
c.8381A>G (p.Gln2794Arg)
c.7274A>G (p.Gln2425Arg)
c.11300A>G (p.Gln3767Arg)
c.7052A>G (p.Gln2351Arg)
c.10280A>G (p.Gln3427Arg)
8g.99870812A>TCA371793591VPS13Bc.*589A>T (n.*589A>T)
n.11565A>T
c.*7177A>T (n.*7177A>T)
c.11420A>T (p.Gln3807Leu)
c.11495A>T (p.Gln3832Leu)
n.437A>T
c.11492A>T (p.Gln3831Leu)
c.11417A>T (p.Gln3806Leu)
c.11117A>T (p.Gln3706Leu)
c.8381A>T (p.Gln2794Leu)
c.7274A>T (p.Gln2425Leu)
c.11300A>T (p.Gln3767Leu)
c.7052A>T (p.Gln2351Leu)
c.10280A>T (p.Gln3427Leu)
8g.99870813G>ACA462339636VPS13Bc.*590G>A (n.*590G>A)
n.11566G>A
c.*7178G>A (n.*7178G>A)
c.11421G>A (p.Gln3807=)
c.11496G>A (p.Gln3832=)
n.438G>A
c.11493G>A (p.Gln3831=)
c.11418G>A (p.Gln3806=)
c.11118G>A (p.Gln3706=)
c.8382G>A (p.Gln2794=)
c.7275G>A (p.Gln2425=)
c.11301G>A (p.Gln3767=)
c.7053G>A (p.Gln2351=)
c.10281G>A (p.Gln3427=)
8g.99870813G>CCA371793594VPS13Bc.*590G>C (n.*590G>C)
n.11566G>C
c.*7178G>C (n.*7178G>C)
c.11421G>C (p.Gln3807His)
c.11496G>C (p.Gln3832His)
n.438G>C
c.11493G>C (p.Gln3831His)
c.11418G>C (p.Gln3806His)
c.11118G>C (p.Gln3706His)
c.8382G>C (p.Gln2794His)
c.7275G>C (p.Gln2425His)
c.11301G>C (p.Gln3767His)
c.7053G>C (p.Gln2351His)
c.10281G>C (p.Gln3427His)
8g.99870813G>TCA371793595VPS13Bc.*590G>T (n.*590G>T)
n.11566G>T
c.*7178G>T (n.*7178G>T)
c.11421G>T (p.Gln3807His)
c.11496G>T (p.Gln3832His)
n.438G>T
c.11493G>T (p.Gln3831His)
c.11418G>T (p.Gln3806His)
c.11118G>T (p.Gln3706His)
c.8382G>T (p.Gln2794His)
c.7275G>T (p.Gln2425His)
c.11301G>T (p.Gln3767His)
c.7053G>T (p.Gln2351His)
c.10281G>T (p.Gln3427His)
8g.99870814C>ACA371793596VPS13Bc.*591C>A (n.*591C>A)
n.11567C>A
c.*7179C>A (n.*7179C>A)
c.11422C>A (p.Leu3808Ile)
c.11497C>A (p.Leu3833Ile)
n.439C>A
c.11494C>A (p.Leu3832Ile)
c.11419C>A (p.Leu3807Ile)
c.11119C>A (p.Leu3707Ile)
c.8383C>A (p.Leu2795Ile)
c.7276C>A (p.Leu2426Ile)
c.11302C>A (p.Leu3768Ile)
c.7054C>A (p.Leu2352Ile)
c.10282C>A (p.Leu3428Ile)
8g.99870814C>GCA371793597VPS13Bc.*591C>G (n.*591C>G)
n.11567C>G
c.*7179C>G (n.*7179C>G)
c.11422C>G (p.Leu3808Val)
c.11497C>G (p.Leu3833Val)
n.439C>G
c.11494C>G (p.Leu3832Val)
c.11419C>G (p.Leu3807Val)
c.11119C>G (p.Leu3707Val)
c.8383C>G (p.Leu2795Val)
c.7276C>G (p.Leu2426Val)
c.11302C>G (p.Leu3768Val)
c.7054C>G (p.Leu2352Val)
c.10282C>G (p.Leu3428Val)
8g.99870814C>TCA371793598VPS13Bc.*591C>T (n.*591C>T)
n.11567C>T
c.*7179C>T (n.*7179C>T)
c.11422C>T (p.Leu3808Phe)
c.11497C>T (p.Leu3833Phe)
n.439C>T
c.11494C>T (p.Leu3832Phe)
c.11419C>T (p.Leu3807Phe)
c.11119C>T (p.Leu3707Phe)
c.8383C>T (p.Leu2795Phe)
c.7276C>T (p.Leu2426Phe)
c.11302C>T (p.Leu3768Phe)
c.7054C>T (p.Leu2352Phe)
c.10282C>T (p.Leu3428Phe)
 gnomAD v4
8g.99870815T>ACA371793599VPS13Bc.*592T>A (n.*592T>A)
n.11568T>A
c.*7180T>A (n.*7180T>A)
c.11423T>A (p.Leu3808His)
c.11498T>A (p.Leu3833His)
n.440T>A
c.11495T>A (p.Leu3832His)
c.11420T>A (p.Leu3807His)
c.11120T>A (p.Leu3707His)
c.8384T>A (p.Leu2795His)
c.7277T>A (p.Leu2426His)
c.11303T>A (p.Leu3768His)
c.7055T>A (p.Leu2352His)
c.10283T>A (p.Leu3428His)
8g.99870815T>CCA371793600VPS13Bc.*592T>C (n.*592T>C)
n.11568T>C
c.*7180T>C (n.*7180T>C)
c.11423T>C (p.Leu3808Pro)
c.11498T>C (p.Leu3833Pro)
n.440T>C
c.11495T>C (p.Leu3832Pro)
c.11420T>C (p.Leu3807Pro)
c.11120T>C (p.Leu3707Pro)
c.8384T>C (p.Leu2795Pro)
c.7277T>C (p.Leu2426Pro)
c.11303T>C (p.Leu3768Pro)
c.7055T>C (p.Leu2352Pro)
c.10283T>C (p.Leu3428Pro)
 gnomAD v4
8g.99870815T>GCA371793601VPS13Bc.*592T>G (n.*592T>G)
n.11568T>G
c.*7180T>G (n.*7180T>G)
c.11423T>G (p.Leu3808Arg)
c.11498T>G (p.Leu3833Arg)
n.440T>G
c.11495T>G (p.Leu3832Arg)
c.11420T>G (p.Leu3807Arg)
c.11120T>G (p.Leu3707Arg)
c.8384T>G (p.Leu2795Arg)
c.7277T>G (p.Leu2426Arg)
c.11303T>G (p.Leu3768Arg)
c.7055T>G (p.Leu2352Arg)
c.10283T>G (p.Leu3428Arg)
8g.99870816T>ACA462339640VPS13Bc.*593T>A (n.*593T>A)
n.11569T>A
c.*7181T>A (n.*7181T>A)
c.11424T>A (p.Leu3808=)
c.11499T>A (p.Leu3833=)
n.441T>A
c.11496T>A (p.Leu3832=)
c.11421T>A (p.Leu3807=)
c.11121T>A (p.Leu3707=)
c.8385T>A (p.Leu2795=)
c.7278T>A (p.Leu2426=)
c.11304T>A (p.Leu3768=)
c.7056T>A (p.Leu2352=)
c.10284T>A (p.Leu3428=)
8g.99870816T>CCA462339641VPS13Bc.*593T>C (n.*593T>C)
n.11569T>C
c.*7181T>C (n.*7181T>C)
c.11424T>C (p.Leu3808=)
c.11499T>C (p.Leu3833=)
n.441T>C
c.11496T>C (p.Leu3832=)
c.11421T>C (p.Leu3807=)
c.11121T>C (p.Leu3707=)
c.8385T>C (p.Leu2795=)
c.7278T>C (p.Leu2426=)
c.11304T>C (p.Leu3768=)
c.7056T>C (p.Leu2352=)
c.10284T>C (p.Leu3428=)
8g.99870816T>GCA462339642VPS13Bc.*593T>G (n.*593T>G)
n.11569T>G
c.*7181T>G (n.*7181T>G)
c.11424T>G (p.Leu3808=)
c.11499T>G (p.Leu3833=)
n.441T>G
c.11496T>G (p.Leu3832=)
c.11421T>G (p.Leu3807=)
c.11121T>G (p.Leu3707=)
c.8385T>G (p.Leu2795=)
c.7278T>G (p.Leu2426=)
c.11304T>G (p.Leu3768=)
c.7056T>G (p.Leu2352=)
c.10284T>G (p.Leu3428=)
8g.99870817C>ACA371793604VPS13Bc.*594C>A (n.*594C>A)
n.11570C>A
c.*7182C>A (n.*7182C>A)
c.11425C>A (p.Pro3809Thr)
c.11500C>A (p.Pro3834Thr)
n.442C>A
c.11497C>A (p.Pro3833Thr)
c.11422C>A (p.Pro3808Thr)
c.11122C>A (p.Pro3708Thr)
c.8386C>A (p.Pro2796Thr)
c.7279C>A (p.Pro2427Thr)
c.11305C>A (p.Pro3769Thr)
c.7057C>A (p.Pro2353Thr)
c.10285C>A (p.Pro3429Thr)
8g.99870817C>GCA371793603VPS13Bc.*594C>G (n.*594C>G)
n.11570C>G
c.*7182C>G (n.*7182C>G)
c.11425C>G (p.Pro3809Ala)
c.11500C>G (p.Pro3834Ala)
n.442C>G
c.11497C>G (p.Pro3833Ala)
c.11422C>G (p.Pro3808Ala)
c.11122C>G (p.Pro3708Ala)
c.8386C>G (p.Pro2796Ala)
c.7279C>G (p.Pro2427Ala)
c.11305C>G (p.Pro3769Ala)
c.7057C>G (p.Pro2353Ala)
c.10285C>G (p.Pro3429Ala)
8g.99870817C>TCA371793602VPS13Bc.*594C>T (n.*594C>T)
n.11570C>T
c.*7182C>T (n.*7182C>T)
c.11425C>T (p.Pro3809Ser)
c.11500C>T (p.Pro3834Ser)
n.442C>T
c.11497C>T (p.Pro3833Ser)
c.11422C>T (p.Pro3808Ser)
c.11122C>T (p.Pro3708Ser)
c.8386C>T (p.Pro2796Ser)
c.7279C>T (p.Pro2427Ser)
c.11305C>T (p.Pro3769Ser)
c.7057C>T (p.Pro2353Ser)
c.10285C>T (p.Pro3429Ser)
 dbSNP gnomAD v4
8g.99870818C>ACA371793605VPS13Bc.*595C>A (n.*595C>A)
n.11571C>A
c.*7183C>A (n.*7183C>A)
c.11426C>A (p.Pro3809His)
c.11501C>A (p.Pro3834His)
n.443C>A
c.11498C>A (p.Pro3833His)
c.11423C>A (p.Pro3808His)
c.11123C>A (p.Pro3708His)
c.8387C>A (p.Pro2796His)
c.7280C>A (p.Pro2427His)
c.11306C>A (p.Pro3769His)
c.7058C>A (p.Pro2353His)
c.10286C>A (p.Pro3429His)
8g.99870818C>GCA371793606VPS13Bc.*595C>G (n.*595C>G)
n.11571C>G
c.*7183C>G (n.*7183C>G)
c.11426C>G (p.Pro3809Arg)
c.11501C>G (p.Pro3834Arg)
n.443C>G
c.11498C>G (p.Pro3833Arg)
c.11423C>G (p.Pro3808Arg)
c.11123C>G (p.Pro3708Arg)
c.8387C>G (p.Pro2796Arg)
c.7280C>G (p.Pro2427Arg)
c.11306C>G (p.Pro3769Arg)
c.7058C>G (p.Pro2353Arg)
c.10286C>G (p.Pro3429Arg)
8g.99870818C>TCA371793607VPS13Bc.*595C>T (n.*595C>T)
n.11571C>T
c.*7183C>T (n.*7183C>T)
c.11426C>T (p.Pro3809Leu)
c.11501C>T (p.Pro3834Leu)
n.443C>T
c.11498C>T (p.Pro3833Leu)
c.11423C>T (p.Pro3808Leu)
c.11123C>T (p.Pro3708Leu)
c.8387C>T (p.Pro2796Leu)
c.7280C>T (p.Pro2427Leu)
c.11306C>T (p.Pro3769Leu)
c.7058C>T (p.Pro2353Leu)
c.10286C>T (p.Pro3429Leu)
8g.99870819C>ACA462339645VPS13Bc.*596C>A (n.*596C>A)
n.11572C>A
c.*7184C>A (n.*7184C>A)
c.11427C>A (p.Pro3809=)
c.11502C>A (p.Pro3834=)
n.444C>A
c.11499C>A (p.Pro3833=)
c.11424C>A (p.Pro3808=)
c.11124C>A (p.Pro3708=)
c.8388C>A (p.Pro2796=)
c.7281C>A (p.Pro2427=)
c.11307C>A (p.Pro3769=)
c.7059C>A (p.Pro2353=)
c.10287C>A (p.Pro3429=)
 gnomAD v4
8g.99870819C>GCA462339646VPS13Bc.*596C>G (n.*596C>G)
n.11572C>G
c.*7184C>G (n.*7184C>G)
c.11427C>G (p.Pro3809=)
c.11502C>G (p.Pro3834=)
n.444C>G
c.11499C>G (p.Pro3833=)
c.11424C>G (p.Pro3808=)
c.11124C>G (p.Pro3708=)
c.8388C>G (p.Pro2796=)
c.7281C>G (p.Pro2427=)
c.11307C>G (p.Pro3769=)
c.7059C>G (p.Pro2353=)
c.10287C>G (p.Pro3429=)
8g.99870819C>TCA462339647VPS13Bc.*596C>T (n.*596C>T)
n.11572C>T
c.*7184C>T (n.*7184C>T)
c.11427C>T (p.Pro3809=)
c.11502C>T (p.Pro3834=)
n.444C>T
c.11499C>T (p.Pro3833=)
c.11424C>T (p.Pro3808=)
c.11124C>T (p.Pro3708=)
c.8388C>T (p.Pro2796=)
c.7281C>T (p.Pro2427=)
c.11307C>T (p.Pro3769=)
c.7059C>T (p.Pro2353=)
c.10287C>T (p.Pro3429=)
 dbSNP
8g.99870821_99870824dupCA915948829VPS13Bc.*598_*601dup (n.*598_*601dup)
n.11574_11577dup
c.*7186_*7189dup (n.*7186_*7189dup)
c.11429_11432dup (p.Arg3812ThrfsTer7)
c.11504_11507dup (p.Arg3837ThrfsTer7)
n.446_449dup
c.11501_11504dup (p.Arg3836ThrfsTer7)
c.11426_11429dup (p.Arg3811ThrfsTer7)
c.11126_11129dup (p.Arg3711ThrfsTer7)
c.8390_8393dup (p.Arg2799ThrfsTer7)
c.7283_7286dup (p.Arg2430ThrfsTer7)
c.11309_11312dup (p.Arg3772ThrfsTer7)
c.7061_7064dup (p.Arg2356ThrfsTer7)
c.10289_10292dup (p.Arg3432ThrfsTer7)
 ClinVar dbSNP
8g.99870820A>CCA371793608VPS13Bc.*597A>C (n.*597A>C)
n.11573A>C
c.*7185A>C (n.*7185A>C)
c.11428A>C (p.Lys3810Gln)
c.11503A>C (p.Lys3835Gln)
n.445A>C
c.11500A>C (p.Lys3834Gln)
c.11425A>C (p.Lys3809Gln)
c.11125A>C (p.Lys3709Gln)
c.8389A>C (p.Lys2797Gln)
c.7282A>C (p.Lys2428Gln)
c.11308A>C (p.Lys3770Gln)
c.7060A>C (p.Lys2354Gln)
c.10288A>C (p.Lys3430Gln)
8g.99870820A>GCA371793609VPS13Bc.*597A>G (n.*597A>G)
n.11573A>G
c.*7185A>G (n.*7185A>G)
c.11428A>G (p.Lys3810Glu)
c.11503A>G (p.Lys3835Glu)
n.445A>G
c.11500A>G (p.Lys3834Glu)
c.11425A>G (p.Lys3809Glu)
c.11125A>G (p.Lys3709Glu)
c.8389A>G (p.Lys2797Glu)
c.7282A>G (p.Lys2428Glu)
c.11308A>G (p.Lys3770Glu)
c.7060A>G (p.Lys2354Glu)
c.10288A>G (p.Lys3430Glu)
 dbSNP gnomAD v4
8g.99870820A>TCA371793610VPS13Bc.*597A>T (n.*597A>T)
n.11573A>T
c.*7185A>T (n.*7185A>T)
c.11428A>T (p.Lys3810Ter)
c.11503A>T (p.Lys3835Ter)
n.445A>T
c.11500A>T (p.Lys3834Ter)
c.11425A>T (p.Lys3809Ter)
c.11125A>T (p.Lys3709Ter)
c.8389A>T (p.Lys2797Ter)
c.7282A>T (p.Lys2428Ter)
c.11308A>T (p.Lys3770Ter)
c.7060A>T (p.Lys2354Ter)
c.10288A>T (p.Lys3430Ter)
8g.99870822delCA264013VPS13Bc.*599del (n.*599del)
n.11575del
c.*7187del (n.*7187del)
c.11430del (p.Lys3810AsnfsTer?)
c.11505del (p.Lys3835AsnfsTer?)
n.447del
c.11502del (p.Lys3834AsnfsTer?)
c.11427del (p.Lys3809AsnfsTer?)
c.11127del (p.Lys3709AsnfsTer?)
c.8391del (p.Lys2797AsnfsTer?)
c.7284del (p.Lys2428AsnfsTer?)
c.11310del (p.Lys3770AsnfsTer?)
c.7062del (p.Lys2354AsnfsTer?)
c.10290del (p.Lys3430AsnfsTer?)
 ClinVar dbSNP
8g.99870821A>CCA371793611VPS13Bc.*598A>C (n.*598A>C)
n.11574A>C
c.*7186A>C (n.*7186A>C)
c.11429A>C (p.Lys3810Thr)
c.11504A>C (p.Lys3835Thr)
n.446A>C
c.11501A>C (p.Lys3834Thr)
c.11426A>C (p.Lys3809Thr)
c.11126A>C (p.Lys3709Thr)
c.8390A>C (p.Lys2797Thr)
c.7283A>C (p.Lys2428Thr)
c.11309A>C (p.Lys3770Thr)
c.7061A>C (p.Lys2354Thr)
c.10289A>C (p.Lys3430Thr)
8g.99870821A>GCA371793613VPS13Bc.*598A>G (n.*598A>G)
n.11574A>G
c.*7186A>G (n.*7186A>G)
c.11429A>G (p.Lys3810Arg)
c.11504A>G (p.Lys3835Arg)
n.446A>G
c.11501A>G (p.Lys3834Arg)
c.11426A>G (p.Lys3809Arg)
c.11126A>G (p.Lys3709Arg)
c.8390A>G (p.Lys2797Arg)
c.7283A>G (p.Lys2428Arg)
c.11309A>G (p.Lys3770Arg)
c.7061A>G (p.Lys2354Arg)
c.10289A>G (p.Lys3430Arg)
 gnomAD v4
8g.99870821A>TCA371793612VPS13Bc.*598A>T (n.*598A>T)
n.11574A>T
c.*7186A>T (n.*7186A>T)
c.11429A>T (p.Lys3810Ile)
c.11504A>T (p.Lys3835Ile)
n.446A>T
c.11501A>T (p.Lys3834Ile)
c.11426A>T (p.Lys3809Ile)
c.11126A>T (p.Lys3709Ile)
c.8390A>T (p.Lys2797Ile)
c.7283A>T (p.Lys2428Ile)
c.11309A>T (p.Lys3770Ile)
c.7061A>T (p.Lys2354Ile)
c.10289A>T (p.Lys3430Ile)
8g.99870822A>CCA371793614VPS13Bc.*599A>C (n.*599A>C)
n.11575A>C
c.*7187A>C (n.*7187A>C)
c.11430A>C (p.Lys3810Asn)
c.11505A>C (p.Lys3835Asn)
n.447A>C
c.11502A>C (p.Lys3834Asn)
c.11427A>C (p.Lys3809Asn)
c.11127A>C (p.Lys3709Asn)
c.8391A>C (p.Lys2797Asn)
c.7284A>C (p.Lys2428Asn)
c.11310A>C (p.Lys3770Asn)
c.7062A>C (p.Lys2354Asn)
c.10290A>C (p.Lys3430Asn)
8g.99870822A>GCA462339652VPS13Bc.*599A>G (n.*599A>G)
n.11575A>G
c.*7187A>G (n.*7187A>G)
c.11430A>G (p.Lys3810=)
c.11505A>G (p.Lys3835=)
n.447A>G
c.11502A>G (p.Lys3834=)
c.11427A>G (p.Lys3809=)
c.11127A>G (p.Lys3709=)
c.8391A>G (p.Lys2797=)
c.7284A>G (p.Lys2428=)
c.11310A>G (p.Lys3770=)
c.7062A>G (p.Lys2354=)
c.10290A>G (p.Lys3430=)
8g.99870822A>TCA371793615VPS13Bc.*599A>T (n.*599A>T)
n.11575A>T
c.*7187A>T (n.*7187A>T)
c.11430A>T (p.Lys3810Asn)
c.11505A>T (p.Lys3835Asn)
n.447A>T
c.11502A>T (p.Lys3834Asn)
c.11427A>T (p.Lys3809Asn)
c.11127A>T (p.Lys3709Asn)
c.8391A>T (p.Lys2797Asn)
c.7284A>T (p.Lys2428Asn)
c.11310A>T (p.Lys3770Asn)
c.7062A>T (p.Lys2354Asn)
c.10290A>T (p.Lys3430Asn)
 gnomAD v4
8g.99870823C>ACA371793616VPS13Bc.*600C>A (n.*600C>A)
n.11576C>A
c.*7188C>A (n.*7188C>A)
c.11431C>A (p.Gln3811Lys)
c.11506C>A (p.Gln3836Lys)
n.448C>A
c.11503C>A (p.Gln3835Lys)
c.11428C>A (p.Gln3810Lys)
c.11128C>A (p.Gln3710Lys)
c.8392C>A (p.Gln2798Lys)
c.7285C>A (p.Gln2429Lys)
c.11311C>A (p.Gln3771Lys)
c.7063C>A (p.Gln2355Lys)
c.10291C>A (p.Gln3431Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.99870823C>GCA371793617VPS13Bc.*600C>G (n.*600C>G)
n.11576C>G
c.*7188C>G (n.*7188C>G)
c.11431C>G (p.Gln3811Glu)
c.11506C>G (p.Gln3836Glu)
n.448C>G
c.11503C>G (p.Gln3835Glu)
c.11428C>G (p.Gln3810Glu)
c.11128C>G (p.Gln3710Glu)
c.8392C>G (p.Gln2798Glu)
c.7285C>G (p.Gln2429Glu)
c.11311C>G (p.Gln3771Glu)
c.7063C>G (p.Gln2355Glu)
c.10291C>G (p.Gln3431Glu)
8g.99870823C>TCA371793618VPS13Bc.*600C>T (n.*600C>T)
n.11576C>T
c.*7188C>T (n.*7188C>T)
c.11431C>T (p.Gln3811Ter)
c.11506C>T (p.Gln3836Ter)
n.448C>T
c.11503C>T (p.Gln3835Ter)
c.11428C>T (p.Gln3810Ter)
c.11128C>T (p.Gln3710Ter)
c.8392C>T (p.Gln2798Ter)
c.7285C>T (p.Gln2429Ter)
c.11311C>T (p.Gln3771Ter)
c.7063C>T (p.Gln2355Ter)
c.10291C>T (p.Gln3431Ter)
 ClinVar gnomAD v4
8g.99870824A>CCA371793619VPS13Bc.*601A>C (n.*601A>C)
n.11577A>C
c.*7189A>C (n.*7189A>C)
c.11432A>C (p.Gln3811Pro)
c.11507A>C (p.Gln3836Pro)
n.449A>C
c.11504A>C (p.Gln3835Pro)
c.11429A>C (p.Gln3810Pro)
c.11129A>C (p.Gln3710Pro)
c.8393A>C (p.Gln2798Pro)
c.7286A>C (p.Gln2429Pro)
c.11312A>C (p.Gln3771Pro)
c.7064A>C (p.Gln2355Pro)
c.10292A>C (p.Gln3431Pro)
8g.99870824A>GCA371793620VPS13Bc.*601A>G (n.*601A>G)
n.11577A>G
c.*7189A>G (n.*7189A>G)
c.11432A>G (p.Gln3811Arg)
c.11507A>G (p.Gln3836Arg)
n.449A>G
c.11504A>G (p.Gln3835Arg)
c.11429A>G (p.Gln3810Arg)
c.11129A>G (p.Gln3710Arg)
c.8393A>G (p.Gln2798Arg)
c.7286A>G (p.Gln2429Arg)
c.11312A>G (p.Gln3771Arg)
c.7064A>G (p.Gln2355Arg)
c.10292A>G (p.Gln3431Arg)
8g.99870824A>TCA371793621VPS13Bc.*601A>T (n.*601A>T)
n.11577A>T
c.*7189A>T (n.*7189A>T)
c.11432A>T (p.Gln3811Leu)
c.11507A>T (p.Gln3836Leu)
n.449A>T
c.11504A>T (p.Gln3835Leu)
c.11429A>T (p.Gln3810Leu)
c.11129A>T (p.Gln3710Leu)
c.8393A>T (p.Gln2798Leu)
c.7286A>T (p.Gln2429Leu)
c.11312A>T (p.Gln3771Leu)
c.7064A>T (p.Gln2355Leu)
c.10292A>T (p.Gln3431Leu)
8g.99870825G>ACA462339657VPS13Bc.*602G>A (n.*602G>A)
n.11578G>A
c.*7190G>A (n.*7190G>A)
c.11433G>A (p.Gln3811=)
c.11508G>A (p.Gln3836=)
n.450G>A
c.11505G>A (p.Gln3835=)
c.11430G>A (p.Gln3810=)
c.11130G>A (p.Gln3710=)
c.8394G>A (p.Gln2798=)
c.7287G>A (p.Gln2429=)
c.11313G>A (p.Gln3771=)
c.7065G>A (p.Gln2355=)
c.10293G>A (p.Gln3431=)
 ClinVar dbSNP
8g.99870825G>CCA371793622VPS13Bc.*602G>C (n.*602G>C)
n.11578G>C
c.*7190G>C (n.*7190G>C)
c.11433G>C (p.Gln3811His)
c.11508G>C (p.Gln3836His)
n.450G>C
c.11505G>C (p.Gln3835His)
c.11430G>C (p.Gln3810His)
c.11130G>C (p.Gln3710His)
c.8394G>C (p.Gln2798His)
c.7287G>C (p.Gln2429His)
c.11313G>C (p.Gln3771His)
c.7065G>C (p.Gln2355His)
c.10293G>C (p.Gln3431His)
8g.99870825G>TCA371793623VPS13Bc.*602G>T (n.*602G>T)
n.11578G>T
c.*7190G>T (n.*7190G>T)
c.11433G>T (p.Gln3811His)
c.11508G>T (p.Gln3836His)
n.450G>T
c.11505G>T (p.Gln3835His)
c.11430G>T (p.Gln3810His)
c.11130G>T (p.Gln3710His)
c.8394G>T (p.Gln2798His)
c.7287G>T (p.Gln2429His)
c.11313G>T (p.Gln3771His)
c.7065G>T (p.Gln2355His)
c.10293G>T (p.Gln3431His)
8g.99870826C>ACA371793624VPS13Bc.*603C>A (n.*603C>A)
n.11579C>A
c.*7191C>A (n.*7191C>A)
c.11434C>A (p.Arg3812Ser)
c.11509C>A (p.Arg3837Ser)
n.451C>A
c.11506C>A (p.Arg3836Ser)
c.11431C>A (p.Arg3811Ser)
c.11131C>A (p.Arg3711Ser)
c.8395C>A (p.Arg2799Ser)
c.7288C>A (p.Arg2430Ser)
c.11314C>A (p.Arg3772Ser)
c.7066C>A (p.Arg2356Ser)
c.10294C>A (p.Arg3432Ser)
8g.99870826C>GCA371793625VPS13Bc.*603C>G (n.*603C>G)
n.11579C>G
c.*7191C>G (n.*7191C>G)
c.11434C>G (p.Arg3812Gly)
c.11509C>G (p.Arg3837Gly)
n.451C>G
c.11506C>G (p.Arg3836Gly)
c.11431C>G (p.Arg3811Gly)
c.11131C>G (p.Arg3711Gly)
c.8395C>G (p.Arg2799Gly)
c.7288C>G (p.Arg2430Gly)
c.11314C>G (p.Arg3772Gly)
c.7066C>G (p.Arg2356Gly)
c.10294C>G (p.Arg3432Gly)
8g.99870826C>TCA4825240VPS13Bc.*603C>T (n.*603C>T)
n.11579C>T
c.*7191C>T (n.*7191C>T)
c.11434C>T (p.Arg3812Cys)
c.11509C>T (p.Arg3837Cys)
n.451C>T
c.11506C>T (p.Arg3836Cys)
c.11431C>T (p.Arg3811Cys)
c.11131C>T (p.Arg3711Cys)
c.8395C>T (p.Arg2799Cys)
c.7288C>T (p.Arg2430Cys)
c.11314C>T (p.Arg3772Cys)
c.7066C>T (p.Arg2356Cys)
c.10294C>T (p.Arg3432Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99870827G>ACA4825241VPS13Bc.*604G>A (n.*604G>A)
n.11580G>A
c.*7192G>A (n.*7192G>A)
c.11435G>A (p.Arg3812His)
c.11510G>A (p.Arg3837His)
n.452G>A
c.11507G>A (p.Arg3836His)
c.11432G>A (p.Arg3811His)
c.11132G>A (p.Arg3711His)
c.8396G>A (p.Arg2799His)
c.7289G>A (p.Arg2430His)
c.11315G>A (p.Arg3772His)
c.7067G>A (p.Arg2356His)
c.10295G>A (p.Arg3432His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870827G>CCA371793626VPS13Bc.*604G>C (n.*604G>C)
n.11580G>C
c.*7192G>C (n.*7192G>C)
c.11435G>C (p.Arg3812Pro)
c.11510G>C (p.Arg3837Pro)
n.452G>C
c.11507G>C (p.Arg3836Pro)
c.11432G>C (p.Arg3811Pro)
c.11132G>C (p.Arg3711Pro)
c.8396G>C (p.Arg2799Pro)
c.7289G>C (p.Arg2430Pro)
c.11315G>C (p.Arg3772Pro)
c.7067G>C (p.Arg2356Pro)
c.10295G>C (p.Arg3432Pro)
8g.99870827G>TCA371793627VPS13Bc.*604G>T (n.*604G>T)
n.11580G>T
c.*7192G>T (n.*7192G>T)
c.11435G>T (p.Arg3812Leu)
c.11510G>T (p.Arg3837Leu)
n.452G>T
c.11507G>T (p.Arg3836Leu)
c.11432G>T (p.Arg3811Leu)
c.11132G>T (p.Arg3711Leu)
c.8396G>T (p.Arg2799Leu)
c.7289G>T (p.Arg2430Leu)
c.11315G>T (p.Arg3772Leu)
c.7067G>T (p.Arg2356Leu)
c.10295G>T (p.Arg3432Leu)
8g.99870828C>ACA462339661VPS13Bc.*605C>A (n.*605C>A)
n.11581C>A
c.*7193C>A (n.*7193C>A)
c.11436C>A (p.Arg3812=)
c.11511C>A (p.Arg3837=)
n.453C>A
c.11508C>A (p.Arg3836=)
c.11433C>A (p.Arg3811=)
c.11133C>A (p.Arg3711=)
c.8397C>A (p.Arg2799=)
c.7290C>A (p.Arg2430=)
c.11316C>A (p.Arg3772=)
c.7068C>A (p.Arg2356=)
c.10296C>A (p.Arg3432=)
 ClinVar gnomAD v4
8g.99870828C>GCA462339662VPS13Bc.*605C>G (n.*605C>G)
n.11581C>G
c.*7193C>G (n.*7193C>G)
c.11436C>G (p.Arg3812=)
c.11511C>G (p.Arg3837=)
n.453C>G
c.11508C>G (p.Arg3836=)
c.11433C>G (p.Arg3811=)
c.11133C>G (p.Arg3711=)
c.8397C>G (p.Arg2799=)
c.7290C>G (p.Arg2430=)
c.11316C>G (p.Arg3772=)
c.7068C>G (p.Arg2356=)
c.10296C>G (p.Arg3432=)
 dbSNP gnomAD v2 gnomAD v4
8g.99870828C>TCA4825242VPS13Bc.*605C>T (n.*605C>T)
n.11581C>T
c.*7193C>T (n.*7193C>T)
c.11436C>T (p.Arg3812=)
c.11511C>T (p.Arg3837=)
n.453C>T
c.11508C>T (p.Arg3836=)
c.11433C>T (p.Arg3811=)
c.11133C>T (p.Arg3711=)
c.8397C>T (p.Arg2799=)
c.7290C>T (p.Arg2430=)
c.11316C>T (p.Arg3772=)
c.7068C>T (p.Arg2356=)
c.10296C>T (p.Arg3432=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99870829C>ACA371793628VPS13Bc.*606C>A (n.*606C>A)
n.11582C>A
c.*7194C>A (n.*7194C>A)
c.11437C>A (p.His3813Asn)
c.11512C>A (p.His3838Asn)
n.454C>A
c.11509C>A (p.His3837Asn)
c.11434C>A (p.His3812Asn)
c.11134C>A (p.His3712Asn)
c.8398C>A (p.His2800Asn)
c.7291C>A (p.His2431Asn)
c.11317C>A (p.His3773Asn)
c.7069C>A (p.His2357Asn)
c.10297C>A (p.His3433Asn)
8g.99870829C>GCA371793629VPS13Bc.*606C>G (n.*606C>G)
n.11582C>G
c.*7194C>G (n.*7194C>G)
c.11437C>G (p.His3813Asp)
c.11512C>G (p.His3838Asp)
n.454C>G
c.11509C>G (p.His3837Asp)
c.11434C>G (p.His3812Asp)
c.11134C>G (p.His3712Asp)
c.8398C>G (p.His2800Asp)
c.7291C>G (p.His2431Asp)
c.11317C>G (p.His3773Asp)
c.7069C>G (p.His2357Asp)
c.10297C>G (p.His3433Asp)
8g.99870829C>TCA371793630VPS13Bc.*606C>T (n.*606C>T)
n.11582C>T
c.*7194C>T (n.*7194C>T)
c.11437C>T (p.His3813Tyr)
c.11512C>T (p.His3838Tyr)
n.454C>T
c.11509C>T (p.His3837Tyr)
c.11434C>T (p.His3812Tyr)
c.11134C>T (p.His3712Tyr)
c.8398C>T (p.His2800Tyr)
c.7291C>T (p.His2431Tyr)
c.11317C>T (p.His3773Tyr)
c.7069C>T (p.His2357Tyr)
c.10297C>T (p.His3433Tyr)
 ClinVar gnomAD v4
8g.99870831_99870833dupCA2497231714VPS13Bc.*608_*610dup (n.*608_*610dup)
n.11584_11586dup
c.*7196_*7198dup (n.*7196_*7198dup)
c.11439_11441dup (p.His3813_Gln3814insHis)
c.11514_11516dup (p.His3838_Gln3839insHis)
n.456_458dup
c.11511_11513dup (p.His3837_Gln3838insHis)
c.11436_11438dup (p.His3812_Gln3813insHis)
c.11136_11138dup (p.His3712_Gln3713insHis)
c.8400_8402dup (p.His2800_Gln2801insHis)
c.7293_7295dup (p.His2431_Gln2432insHis)
c.11319_11321dup (p.His3773_Gln3774insHis)
c.7071_7073dup (p.His2357_Gln2358insHis)
c.10299_10301dup (p.His3433_Gln3434insHis)
 dbSNP
8g.99870830A>CCA371793631VPS13Bc.*607A>C (n.*607A>C)
n.11583A>C
c.*7195A>C (n.*7195A>C)
c.11438A>C (p.His3813Pro)
c.11513A>C (p.His3838Pro)
n.455A>C
c.11510A>C (p.His3837Pro)
c.11435A>C (p.His3812Pro)
c.11135A>C (p.His3712Pro)
c.8399A>C (p.His2800Pro)
c.7292A>C (p.His2431Pro)
c.11318A>C (p.His3773Pro)
c.7070A>C (p.His2357Pro)
c.10298A>C (p.His3433Pro)
8g.99870830A>GCA246867VPS13Bc.*607A>G (n.*607A>G)
n.11583A>G
c.*7195A>G (n.*7195A>G)
c.11438A>G (p.His3813Arg)
c.11513A>G (p.His3838Arg)
n.455A>G
c.11510A>G (p.His3837Arg)
c.11435A>G (p.His3812Arg)
c.11135A>G (p.His3712Arg)
c.8399A>G (p.His2800Arg)
c.7292A>G (p.His2431Arg)
c.11318A>G (p.His3773Arg)
c.7070A>G (p.His2357Arg)
c.10298A>G (p.His3433Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870830A>TCA371793632VPS13Bc.*607A>T (n.*607A>T)
n.11583A>T
c.*7195A>T (n.*7195A>T)
c.11438A>T (p.His3813Leu)
c.11513A>T (p.His3838Leu)
n.455A>T
c.11510A>T (p.His3837Leu)
c.11435A>T (p.His3812Leu)
c.11135A>T (p.His3712Leu)
c.8399A>T (p.His2800Leu)
c.7292A>T (p.His2431Leu)
c.11318A>T (p.His3773Leu)
c.7070A>T (p.His2357Leu)
c.10298A>T (p.His3433Leu)
8g.99870830_99870842delCA2573143504VPS13Bc.*607_*619del (n.*607_*619del)
n.11583_11595del
c.*7195_*7207del (n.*7195_*7207del)
c.11438_11450del (p.His3813LeufsTer?)
c.11513_11525del (p.His3838LeufsTer?)
n.455_467del
c.11510_11522del (p.His3837LeufsTer?)
c.11435_11447del (p.His3812LeufsTer?)
c.11135_11147del (p.His3712LeufsTer?)
c.8399_8411del (p.His2800LeufsTer?)
c.7292_7304del (p.His2431LeufsTer?)
c.11318_11330del (p.His3773LeufsTer?)
c.7070_7082del (p.His2357LeufsTer?)
c.10298_10310del (p.His3433LeufsTer?)
 ClinVar dbSNP
8g.99870831delCA2718045790VPS13Bc.*608del (n.*608del)
n.11584del
c.*7196del (n.*7196del)
c.11439del (p.Gln3814SerfsTer?)
c.11514del (p.Gln3839SerfsTer?)
n.456del
c.11511del (p.Gln3838SerfsTer?)
c.11436del (p.Gln3813SerfsTer?)
c.11136del (p.Gln3713SerfsTer?)
c.8400del (p.Gln2801SerfsTer?)
c.7293del (p.Gln2432SerfsTer?)
c.11319del (p.Gln3774SerfsTer?)
c.7071del (p.Gln2358SerfsTer?)
c.10299del (p.Gln3434SerfsTer?)
 dbSNP
8g.99870831T>ACA371793633VPS13Bc.*608T>A (n.*608T>A)
n.11584T>A
c.*7196T>A (n.*7196T>A)
c.11439T>A (p.His3813Gln)
c.11514T>A (p.His3838Gln)
n.456T>A
c.11511T>A (p.His3837Gln)
c.11436T>A (p.His3812Gln)
c.11136T>A (p.His3712Gln)
c.8400T>A (p.His2800Gln)
c.7293T>A (p.His2431Gln)
c.11319T>A (p.His3773Gln)
c.7071T>A (p.His2357Gln)
c.10299T>A (p.His3433Gln)
8g.99870831T>CCA462339670VPS13Bc.*608T>C (n.*608T>C)
n.11584T>C
c.*7196T>C (n.*7196T>C)
c.11439T>C (p.His3813=)
c.11514T>C (p.His3838=)
n.456T>C
c.11511T>C (p.His3837=)
c.11436T>C (p.His3812=)
c.11136T>C (p.His3712=)
c.8400T>C (p.His2800=)
c.7293T>C (p.His2431=)
c.11319T>C (p.His3773=)
c.7071T>C (p.His2357=)
c.10299T>C (p.His3433=)
8g.99870831T>GCA371793634VPS13Bc.*608T>G (n.*608T>G)
n.11584T>G
c.*7196T>G (n.*7196T>G)
c.11439T>G (p.His3813Gln)
c.11514T>G (p.His3838Gln)
n.456T>G
c.11511T>G (p.His3837Gln)
c.11436T>G (p.His3812Gln)
c.11136T>G (p.His3712Gln)
c.8400T>G (p.His2800Gln)
c.7293T>G (p.His2431Gln)
c.11319T>G (p.His3773Gln)
c.7071T>G (p.His2357Gln)
c.10299T>G (p.His3433Gln)
8g.99870832C>ACA371793637VPS13Bc.*609C>A (n.*609C>A)
n.11585C>A
c.*7197C>A (n.*7197C>A)
c.11440C>A (p.Gln3814Lys)
c.11515C>A (p.Gln3839Lys)
n.457C>A
c.11512C>A (p.Gln3838Lys)
c.11437C>A (p.Gln3813Lys)
c.11137C>A (p.Gln3713Lys)
c.8401C>A (p.Gln2801Lys)
c.7294C>A (p.Gln2432Lys)
c.11320C>A (p.Gln3774Lys)
c.7072C>A (p.Gln2358Lys)
c.10300C>A (p.Gln3434Lys)
8g.99870832C>GCA371793635VPS13Bc.*609C>G (n.*609C>G)
n.11585C>G
c.*7197C>G (n.*7197C>G)
c.11440C>G (p.Gln3814Glu)
c.11515C>G (p.Gln3839Glu)
n.457C>G
c.11512C>G (p.Gln3838Glu)
c.11437C>G (p.Gln3813Glu)
c.11137C>G (p.Gln3713Glu)
c.8401C>G (p.Gln2801Glu)
c.7294C>G (p.Gln2432Glu)
c.11320C>G (p.Gln3774Glu)
c.7072C>G (p.Gln2358Glu)
c.10300C>G (p.Gln3434Glu)
8g.99870832C>TCA371793636VPS13Bc.*609C>T (n.*609C>T)
n.11585C>T
c.*7197C>T (n.*7197C>T)
c.11440C>T (p.Gln3814Ter)
c.11515C>T (p.Gln3839Ter)
n.457C>T
c.11512C>T (p.Gln3838Ter)
c.11437C>T (p.Gln3813Ter)
c.11137C>T (p.Gln3713Ter)
c.8401C>T (p.Gln2801Ter)
c.7294C>T (p.Gln2432Ter)
c.11320C>T (p.Gln3774Ter)
c.7072C>T (p.Gln2358Ter)
c.10300C>T (p.Gln3434Ter)
 gnomAD v4
8g.99870833A>CCA371793638VPS13Bc.*610A>C (n.*610A>C)
n.11586A>C
c.*7198A>C (n.*7198A>C)
c.11441A>C (p.Gln3814Pro)
c.11516A>C (p.Gln3839Pro)
n.458A>C
c.11513A>C (p.Gln3838Pro)
c.11438A>C (p.Gln3813Pro)
c.11138A>C (p.Gln3713Pro)
c.8402A>C (p.Gln2801Pro)
c.7295A>C (p.Gln2432Pro)
c.11321A>C (p.Gln3774Pro)
c.7073A>C (p.Gln2358Pro)
c.10301A>C (p.Gln3434Pro)
8g.99870833A>GCA371793639VPS13Bc.*610A>G (n.*610A>G)
n.11586A>G
c.*7198A>G (n.*7198A>G)
c.11441A>G (p.Gln3814Arg)
c.11516A>G (p.Gln3839Arg)
n.458A>G
c.11513A>G (p.Gln3838Arg)
c.11438A>G (p.Gln3813Arg)
c.11138A>G (p.Gln3713Arg)
c.8402A>G (p.Gln2801Arg)
c.7295A>G (p.Gln2432Arg)
c.11321A>G (p.Gln3774Arg)
c.7073A>G (p.Gln2358Arg)
c.10301A>G (p.Gln3434Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99870833A>TCA371793640VPS13Bc.*610A>T (n.*610A>T)
n.11586A>T
c.*7198A>T (n.*7198A>T)
c.11441A>T (p.Gln3814Leu)
c.11516A>T (p.Gln3839Leu)
n.458A>T
c.11513A>T (p.Gln3838Leu)
c.11438A>T (p.Gln3813Leu)
c.11138A>T (p.Gln3713Leu)
c.8402A>T (p.Gln2801Leu)
c.7295A>T (p.Gln2432Leu)
c.11321A>T (p.Gln3774Leu)
c.7073A>T (p.Gln2358Leu)
c.10301A>T (p.Gln3434Leu)
8g.99870834G>ACA462339675VPS13Bc.*611G>A (n.*611G>A)
n.11587G>A
c.*7199G>A (n.*7199G>A)
c.11442G>A (p.Gln3814=)
c.11517G>A (p.Gln3839=)
n.459G>A
c.11514G>A (p.Gln3838=)
c.11439G>A (p.Gln3813=)
c.11139G>A (p.Gln3713=)
c.8403G>A (p.Gln2801=)
c.7296G>A (p.Gln2432=)
c.11322G>A (p.Gln3774=)
c.7074G>A (p.Gln2358=)
c.10302G>A (p.Gln3434=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99870834G>CCA371793641VPS13Bc.*611G>C (n.*611G>C)
n.11587G>C
c.*7199G>C (n.*7199G>C)
c.11442G>C (p.Gln3814His)
c.11517G>C (p.Gln3839His)
n.459G>C
c.11514G>C (p.Gln3838His)
c.11439G>C (p.Gln3813His)
c.11139G>C (p.Gln3713His)
c.8403G>C (p.Gln2801His)
c.7296G>C (p.Gln2432His)
c.11322G>C (p.Gln3774His)
c.7074G>C (p.Gln2358His)
c.10302G>C (p.Gln3434His)
8g.99870834G>TCA371793642VPS13Bc.*611G>T (n.*611G>T)
n.11587G>T
c.*7199G>T (n.*7199G>T)
c.11442G>T (p.Gln3814His)
c.11517G>T (p.Gln3839His)
n.459G>T
c.11514G>T (p.Gln3838His)
c.11439G>T (p.Gln3813His)
c.11139G>T (p.Gln3713His)
c.8403G>T (p.Gln2801His)
c.7296G>T (p.Gln2432His)
c.11322G>T (p.Gln3774His)
c.7074G>T (p.Gln2358His)
c.10302G>T (p.Gln3434His)
8g.99870835C>ACA371793643VPS13Bc.*612C>A (n.*612C>A)
n.11588C>A
c.*7200C>A (n.*7200C>A)
c.11443C>A (p.Pro3815Thr)
c.11518C>A (p.Pro3840Thr)
n.460C>A
c.11515C>A (p.Pro3839Thr)
c.11440C>A (p.Pro3814Thr)
c.11140C>A (p.Pro3714Thr)
c.8404C>A (p.Pro2802Thr)
c.7297C>A (p.Pro2433Thr)
c.11323C>A (p.Pro3775Thr)
c.7075C>A (p.Pro2359Thr)
c.10303C>A (p.Pro3435Thr)
8g.99870835C>GCA371793644VPS13Bc.*612C>G (n.*612C>G)
n.11588C>G
c.*7200C>G (n.*7200C>G)
c.11443C>G (p.Pro3815Ala)
c.11518C>G (p.Pro3840Ala)
n.460C>G
c.11515C>G (p.Pro3839Ala)
c.11440C>G (p.Pro3814Ala)
c.11140C>G (p.Pro3714Ala)
c.8404C>G (p.Pro2802Ala)
c.7297C>G (p.Pro2433Ala)
c.11323C>G (p.Pro3775Ala)
c.7075C>G (p.Pro2359Ala)
c.10303C>G (p.Pro3435Ala)
8g.99870835C>TCA371793645VPS13Bc.*612C>T (n.*612C>T)
n.11588C>T
c.*7200C>T (n.*7200C>T)
c.11443C>T (p.Pro3815Ser)
c.11518C>T (p.Pro3840Ser)
n.460C>T
c.11515C>T (p.Pro3839Ser)
c.11440C>T (p.Pro3814Ser)
c.11140C>T (p.Pro3714Ser)
c.8404C>T (p.Pro2802Ser)
c.7297C>T (p.Pro2433Ser)
c.11323C>T (p.Pro3775Ser)
c.7075C>T (p.Pro2359Ser)
c.10303C>T (p.Pro3435Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.99870836C>ACA371793646VPS13Bc.*613C>A (n.*613C>A)
n.11589C>A
c.*7201C>A (n.*7201C>A)
c.11444C>A (p.Pro3815Gln)
c.11519C>A (p.Pro3840Gln)
n.461C>A
c.11516C>A (p.Pro3839Gln)
c.11441C>A (p.Pro3814Gln)
c.11141C>A (p.Pro3714Gln)
c.8405C>A (p.Pro2802Gln)
c.7298C>A (p.Pro2433Gln)
c.11324C>A (p.Pro3775Gln)
c.7076C>A (p.Pro2359Gln)
c.10304C>A (p.Pro3435Gln)
8g.99870836C>GCA371793647VPS13Bc.*613C>G (n.*613C>G)
n.11589C>G
c.*7201C>G (n.*7201C>G)
c.11444C>G (p.Pro3815Arg)
c.11519C>G (p.Pro3840Arg)
n.461C>G
c.11516C>G (p.Pro3839Arg)
c.11441C>G (p.Pro3814Arg)
c.11141C>G (p.Pro3714Arg)
c.8405C>G (p.Pro2802Arg)
c.7298C>G (p.Pro2433Arg)
c.11324C>G (p.Pro3775Arg)
c.7076C>G (p.Pro2359Arg)
c.10304C>G (p.Pro3435Arg)
8g.99870836C>TCA371793648VPS13Bc.*613C>T (n.*613C>T)
n.11589C>T
c.*7201C>T (n.*7201C>T)
c.11444C>T (p.Pro3815Leu)
c.11519C>T (p.Pro3840Leu)
n.461C>T
c.11516C>T (p.Pro3839Leu)
c.11441C>T (p.Pro3814Leu)
c.11141C>T (p.Pro3714Leu)
c.8405C>T (p.Pro2802Leu)
c.7298C>T (p.Pro2433Leu)
c.11324C>T (p.Pro3775Leu)
c.7076C>T (p.Pro2359Leu)
c.10304C>T (p.Pro3435Leu)
8g.99870836_99870838delinsTCA2695209941VPS13Bc.*613_*615delinsT (n.*613_*615delinsT)
n.11589_11591delinsT
c.*7201_*7203delinsT (n.*7201_*7203delinsT)
c.11444_11446delinsT (p.Pro3815LeufsTer2)
c.11519_11521delinsT (p.Pro3840LeufsTer2)
n.461_463delinsT
c.11516_11518delinsT (p.Pro3839LeufsTer2)
c.11441_11443delinsT (p.Pro3814LeufsTer2)
c.11141_11143delinsT (p.Pro3714LeufsTer2)
c.8405_8407delinsT (p.Pro2802LeufsTer2)
c.7298_7300delinsT (p.Pro2433LeufsTer2)
c.11324_11326delinsT (p.Pro3775LeufsTer2)
c.7076_7078delinsT (p.Pro2359LeufsTer2)
c.10304_10306delinsT (p.Pro3435LeufsTer2)
8g.99870837A>CCA462339677VPS13Bc.*614A>C (n.*614A>C)
n.11590A>C
c.*7202A>C (n.*7202A>C)
c.11445A>C (p.Pro3815=)
c.11520A>C (p.Pro3840=)
n.462A>C
c.11517A>C (p.Pro3839=)
c.11442A>C (p.Pro3814=)
c.11142A>C (p.Pro3714=)
c.8406A>C (p.Pro2802=)
c.7299A>C (p.Pro2433=)
c.11325A>C (p.Pro3775=)
c.7077A>C (p.Pro2359=)
c.10305A>C (p.Pro3435=)
8g.99870837A>GCA462339678VPS13Bc.*614A>G (n.*614A>G)
n.11590A>G
c.*7202A>G (n.*7202A>G)
c.11445A>G (p.Pro3815=)
c.11520A>G (p.Pro3840=)
n.462A>G
c.11517A>G (p.Pro3839=)
c.11442A>G (p.Pro3814=)
c.11142A>G (p.Pro3714=)
c.8406A>G (p.Pro2802=)
c.7299A>G (p.Pro2433=)
c.11325A>G (p.Pro3775=)
c.7077A>G (p.Pro2359=)
c.10305A>G (p.Pro3435=)
8g.99870837A>TCA462339679VPS13Bc.*614A>T (n.*614A>T)
n.11590A>T
c.*7202A>T (n.*7202A>T)
c.11445A>T (p.Pro3815=)
c.11520A>T (p.Pro3840=)
n.462A>T
c.11517A>T (p.Pro3839=)
c.11442A>T (p.Pro3814=)
c.11142A>T (p.Pro3714=)
c.8406A>T (p.Pro2802=)
c.7299A>T (p.Pro2433=)
c.11325A>T (p.Pro3775=)
c.7077A>T (p.Pro2359=)
c.10305A>T (p.Pro3435=)
8g.99870838A>CCA371793650VPS13Bc.*615A>C (n.*615A>C)
n.11591A>C
c.*7203A>C (n.*7203A>C)
c.11446A>C (p.Ser3816Arg)
c.11521A>C (p.Ser3841Arg)
n.463A>C
c.11518A>C (p.Ser3840Arg)
c.11443A>C (p.Ser3815Arg)
c.11143A>C (p.Ser3715Arg)
c.8407A>C (p.Ser2803Arg)
c.7300A>C (p.Ser2434Arg)
c.11326A>C (p.Ser3776Arg)
c.7078A>C (p.Ser2360Arg)
c.10306A>C (p.Ser3436Arg)
 gnomAD v4
8g.99870838A>GCA371793651VPS13Bc.*615A>G (n.*615A>G)
n.11591A>G
c.*7203A>G (n.*7203A>G)
c.11446A>G (p.Ser3816Gly)
c.11521A>G (p.Ser3841Gly)
n.463A>G
c.11518A>G (p.Ser3840Gly)
c.11443A>G (p.Ser3815Gly)
c.11143A>G (p.Ser3715Gly)
c.8407A>G (p.Ser2803Gly)
c.7300A>G (p.Ser2434Gly)
c.11326A>G (p.Ser3776Gly)
c.7078A>G (p.Ser2360Gly)
c.10306A>G (p.Ser3436Gly)
8g.99870838A>TCA371793649VPS13Bc.*615A>T (n.*615A>T)
n.11591A>T
c.*7203A>T (n.*7203A>T)
c.11446A>T (p.Ser3816Cys)
c.11521A>T (p.Ser3841Cys)
n.463A>T
c.11518A>T (p.Ser3840Cys)
c.11443A>T (p.Ser3815Cys)
c.11143A>T (p.Ser3715Cys)
c.8407A>T (p.Ser2803Cys)
c.7300A>T (p.Ser2434Cys)
c.11326A>T (p.Ser3776Cys)
c.7078A>T (p.Ser2360Cys)
c.10306A>T (p.Ser3436Cys)
8g.99870839G>ACA371793652VPS13Bc.*616G>A (n.*616G>A)
n.11592G>A
c.*7204G>A (n.*7204G>A)
c.11447G>A (p.Ser3816Asn)
c.11522G>A (p.Ser3841Asn)
n.464G>A
c.11519G>A (p.Ser3840Asn)
c.11444G>A (p.Ser3815Asn)
c.11144G>A (p.Ser3715Asn)
c.8408G>A (p.Ser2803Asn)
c.7301G>A (p.Ser2434Asn)
c.11327G>A (p.Ser3776Asn)
c.7079G>A (p.Ser2360Asn)
c.10307G>A (p.Ser3436Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99870839G>CCA371793653VPS13Bc.*616G>C (n.*616G>C)
n.11592G>C
c.*7204G>C (n.*7204G>C)
c.11447G>C (p.Ser3816Thr)
c.11522G>C (p.Ser3841Thr)
n.464G>C
c.11519G>C (p.Ser3840Thr)
c.11444G>C (p.Ser3815Thr)
c.11144G>C (p.Ser3715Thr)
c.8408G>C (p.Ser2803Thr)
c.7301G>C (p.Ser2434Thr)
c.11327G>C (p.Ser3776Thr)
c.7079G>C (p.Ser2360Thr)
c.10307G>C (p.Ser3436Thr)
8g.99870839G>TCA371793654VPS13Bc.*616G>T (n.*616G>T)
n.11592G>T
c.*7204G>T (n.*7204G>T)
c.11447G>T (p.Ser3816Ile)
c.11522G>T (p.Ser3841Ile)
n.464G>T
c.11519G>T (p.Ser3840Ile)
c.11444G>T (p.Ser3815Ile)
c.11144G>T (p.Ser3715Ile)
c.8408G>T (p.Ser2803Ile)
c.7301G>T (p.Ser2434Ile)
c.11327G>T (p.Ser3776Ile)
c.7079G>T (p.Ser2360Ile)
c.10307G>T (p.Ser3436Ile)
8g.99870840T>ACA371793655VPS13Bc.*617T>A (n.*617T>A)
n.11593T>A
c.*7205T>A (n.*7205T>A)
c.11448T>A (p.Ser3816Arg)
c.11523T>A (p.Ser3841Arg)
n.465T>A
c.11520T>A (p.Ser3840Arg)
c.11445T>A (p.Ser3815Arg)
c.11145T>A (p.Ser3715Arg)
c.8409T>A (p.Ser2803Arg)
c.7302T>A (p.Ser2434Arg)
c.11328T>A (p.Ser3776Arg)
c.7080T>A (p.Ser2360Arg)
c.10308T>A (p.Ser3436Arg)
8g.99870840T>CCA462339684VPS13Bc.*617T>C (n.*617T>C)
n.11593T>C
c.*7205T>C (n.*7205T>C)
c.11448T>C (p.Ser3816=)
c.11523T>C (p.Ser3841=)
n.465T>C
c.11520T>C (p.Ser3840=)
c.11445T>C (p.Ser3815=)
c.11145T>C (p.Ser3715=)
c.8409T>C (p.Ser2803=)
c.7302T>C (p.Ser2434=)
c.11328T>C (p.Ser3776=)
c.7080T>C (p.Ser2360=)
c.10308T>C (p.Ser3436=)
8g.99870840T>GCA371793656VPS13Bc.*617T>G (n.*617T>G)
n.11593T>G
c.*7205T>G (n.*7205T>G)
c.11448T>G (p.Ser3816Arg)
c.11523T>G (p.Ser3841Arg)
n.465T>G
c.11520T>G (p.Ser3840Arg)
c.11445T>G (p.Ser3815Arg)
c.11145T>G (p.Ser3715Arg)
c.8409T>G (p.Ser2803Arg)
c.7302T>G (p.Ser2434Arg)
c.11328T>G (p.Ser3776Arg)
c.7080T>G (p.Ser2360Arg)
c.10308T>G (p.Ser3436Arg)
8g.99870841G>ACA371793659VPS13Bc.*618G>A (n.*618G>A)
n.11594G>A
c.*7206G>A (n.*7206G>A)
c.11449G>A (p.Asp3817Asn)
c.11524G>A (p.Asp3842Asn)
n.466G>A
c.11521G>A (p.Asp3841Asn)
c.11446G>A (p.Asp3816Asn)
c.11146G>A (p.Asp3716Asn)
c.8410G>A (p.Asp2804Asn)
c.7303G>A (p.Asp2435Asn)
c.11329G>A (p.Asp3777Asn)
c.7081G>A (p.Asp2361Asn)
c.10309G>A (p.Asp3437Asn)
8g.99870841G>CCA371793658VPS13Bc.*618G>C (n.*618G>C)
n.11594G>C
c.*7206G>C (n.*7206G>C)
c.11449G>C (p.Asp3817His)
c.11524G>C (p.Asp3842His)
n.466G>C
c.11521G>C (p.Asp3841His)
c.11446G>C (p.Asp3816His)
c.11146G>C (p.Asp3716His)
c.8410G>C (p.Asp2804His)
c.7303G>C (p.Asp2435His)
c.11329G>C (p.Asp3777His)
c.7081G>C (p.Asp2361His)
c.10309G>C (p.Asp3437His)
8g.99870841G>TCA371793657VPS13Bc.*618G>T (n.*618G>T)
n.11594G>T
c.*7206G>T (n.*7206G>T)
c.11449G>T (p.Asp3817Tyr)
c.11524G>T (p.Asp3842Tyr)
n.466G>T
c.11521G>T (p.Asp3841Tyr)
c.11446G>T (p.Asp3816Tyr)
c.11146G>T (p.Asp3716Tyr)
c.8410G>T (p.Asp2804Tyr)
c.7303G>T (p.Asp2435Tyr)
c.11329G>T (p.Asp3777Tyr)
c.7081G>T (p.Asp2361Tyr)
c.10309G>T (p.Asp3437Tyr)
8g.99870842A>CCA371793660VPS13Bc.*619A>C (n.*619A>C)
n.11595A>C
c.*7207A>C (n.*7207A>C)
c.11450A>C (p.Asp3817Ala)
c.11525A>C (p.Asp3842Ala)
n.467A>C
c.11522A>C (p.Asp3841Ala)
c.11447A>C (p.Asp3816Ala)
c.11147A>C (p.Asp3716Ala)
c.8411A>C (p.Asp2804Ala)
c.7304A>C (p.Asp2435Ala)
c.11330A>C (p.Asp3777Ala)
c.7082A>C (p.Asp2361Ala)
c.10310A>C (p.Asp3437Ala)
8g.99870842A>GCA371793661VPS13Bc.*619A>G (n.*619A>G)
n.11595A>G
c.*7207A>G (n.*7207A>G)
c.11450A>G (p.Asp3817Gly)
c.11525A>G (p.Asp3842Gly)
n.467A>G
c.11522A>G (p.Asp3841Gly)
c.11447A>G (p.Asp3816Gly)
c.11147A>G (p.Asp3716Gly)
c.8411A>G (p.Asp2804Gly)
c.7304A>G (p.Asp2435Gly)
c.11330A>G (p.Asp3777Gly)
c.7082A>G (p.Asp2361Gly)
c.10310A>G (p.Asp3437Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.99870842A>TCA371793662VPS13Bc.*619A>T (n.*619A>T)
n.11595A>T
c.*7207A>T (n.*7207A>T)
c.11450A>T (p.Asp3817Val)
c.11525A>T (p.Asp3842Val)
n.467A>T
c.11522A>T (p.Asp3841Val)
c.11447A>T (p.Asp3816Val)
c.11147A>T (p.Asp3716Val)
c.8411A>T (p.Asp2804Val)
c.7304A>T (p.Asp2435Val)
c.11330A>T (p.Asp3777Val)
c.7082A>T (p.Asp2361Val)
c.10310A>T (p.Asp3437Val)
8g.99870842dupCA2688073067VPS13Bc.*619dup (n.*619dup)
n.11595dup
c.*7207dup (n.*7207dup)
c.11450dup (p.Asp3817GlufsTer5)
c.11525dup (p.Asp3842GlufsTer5)
n.467dup
c.11522dup (p.Asp3841GlufsTer5)
c.11447dup (p.Asp3816GlufsTer5)
c.11147dup (p.Asp3716GlufsTer5)
c.8411dup (p.Asp2804GlufsTer5)
c.7304dup (p.Asp2435GlufsTer5)
c.11330dup (p.Asp3777GlufsTer5)
c.7082dup (p.Asp2361GlufsTer5)
c.10310dup (p.Asp3437GlufsTer5)
 gnomAD v4
8g.99870843T>ACA371793663VPS13Bc.*620T>A (n.*620T>A)
n.11596T>A
c.*7208T>A (n.*7208T>A)
c.11451T>A (p.Asp3817Glu)
c.11526T>A (p.Asp3842Glu)
n.468T>A
c.11523T>A (p.Asp3841Glu)
c.11448T>A (p.Asp3816Glu)
c.11148T>A (p.Asp3716Glu)
c.8412T>A (p.Asp2804Glu)
c.7305T>A (p.Asp2435Glu)
c.11331T>A (p.Asp3777Glu)
c.7083T>A (p.Asp2361Glu)
c.10311T>A (p.Asp3437Glu)
8g.99870843T>CCA462339686VPS13Bc.*620T>C (n.*620T>C)
n.11596T>C
c.*7208T>C (n.*7208T>C)
c.11451T>C (p.Asp3817=)
c.11526T>C (p.Asp3842=)
n.468T>C
c.11523T>C (p.Asp3841=)
c.11448T>C (p.Asp3816=)
c.11148T>C (p.Asp3716=)
c.8412T>C (p.Asp2804=)
c.7305T>C (p.Asp2435=)
c.11331T>C (p.Asp3777=)
c.7083T>C (p.Asp2361=)
c.10311T>C (p.Asp3437=)
8g.99870843T>GCA182331135VPS13Bc.*620T>G (n.*620T>G)
n.11596T>G
c.*7208T>G (n.*7208T>G)
c.11451T>G (p.Asp3817Glu)
c.11526T>G (p.Asp3842Glu)
n.468T>G
c.11523T>G (p.Asp3841Glu)
c.11448T>G (p.Asp3816Glu)
c.11148T>G (p.Asp3716Glu)
c.8412T>G (p.Asp2804Glu)
c.7305T>G (p.Asp2435Glu)
c.11331T>G (p.Asp3777Glu)
c.7083T>G (p.Asp2361Glu)
c.10311T>G (p.Asp3437Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.99870844C>ACA371793664VPS13Bc.*621C>A (n.*621C>A)
n.11597C>A
c.*7209C>A (n.*7209C>A)
c.11452C>A (p.Leu3818Ile)
c.11527C>A (p.Leu3843Ile)
n.469C>A
c.11524C>A (p.Leu3842Ile)
c.11449C>A (p.Leu3817Ile)
c.11149C>A (p.Leu3717Ile)
c.8413C>A (p.Leu2805Ile)
c.7306C>A (p.Leu2436Ile)
c.11332C>A (p.Leu3778Ile)
c.7084C>A (p.Leu2362Ile)
c.10312C>A (p.Leu3438Ile)
8g.99870844C>GCA371793665VPS13Bc.*621C>G (n.*621C>G)
n.11597C>G
c.*7209C>G (n.*7209C>G)
c.11452C>G (p.Leu3818Val)
c.11527C>G (p.Leu3843Val)
n.469C>G
c.11524C>G (p.Leu3842Val)
c.11449C>G (p.Leu3817Val)
c.11149C>G (p.Leu3717Val)
c.8413C>G (p.Leu2805Val)
c.7306C>G (p.Leu2436Val)
c.11332C>G (p.Leu3778Val)
c.7084C>G (p.Leu2362Val)
c.10312C>G (p.Leu3438Val)
8g.99870844C>TCA462339687VPS13Bc.*621C>T (n.*621C>T)
n.11597C>T
c.*7209C>T (n.*7209C>T)
c.11452C>T (p.Leu3818=)
c.11527C>T (p.Leu3843=)
n.469C>T
c.11524C>T (p.Leu3842=)
c.11449C>T (p.Leu3817=)
c.11149C>T (p.Leu3717=)
c.8413C>T (p.Leu2805=)
c.7306C>T (p.Leu2436=)
c.11332C>T (p.Leu3778=)
c.7084C>T (p.Leu2362=)
c.10312C>T (p.Leu3438=)
8g.99870845T>ACA371793666VPS13Bc.*622T>A (n.*622T>A)
n.11598T>A
c.*7210T>A (n.*7210T>A)
c.11453T>A (p.Leu3818Gln)
c.11528T>A (p.Leu3843Gln)
n.470T>A
c.11525T>A (p.Leu3842Gln)
c.11450T>A (p.Leu3817Gln)
c.11150T>A (p.Leu3717Gln)
c.8414T>A (p.Leu2805Gln)
c.7307T>A (p.Leu2436Gln)
c.11333T>A (p.Leu3778Gln)
c.7085T>A (p.Leu2362Gln)
c.10313T>A (p.Leu3438Gln)
8g.99870845T>CCA371793668VPS13Bc.*622T>C (n.*622T>C)
n.11598T>C
c.*7210T>C (n.*7210T>C)
c.11453T>C (p.Leu3818Pro)
c.11528T>C (p.Leu3843Pro)
n.470T>C
c.11525T>C (p.Leu3842Pro)
c.11450T>C (p.Leu3817Pro)
c.11150T>C (p.Leu3717Pro)
c.8414T>C (p.Leu2805Pro)
c.7307T>C (p.Leu2436Pro)
c.11333T>C (p.Leu3778Pro)
c.7085T>C (p.Leu2362Pro)
c.10313T>C (p.Leu3438Pro)
 gnomAD v4
8g.99870845T>GCA371793667VPS13Bc.*622T>G (n.*622T>G)
n.11598T>G
c.*7210T>G (n.*7210T>G)
c.11453T>G (p.Leu3818Arg)
c.11528T>G (p.Leu3843Arg)
n.470T>G
c.11525T>G (p.Leu3842Arg)
c.11450T>G (p.Leu3817Arg)
c.11150T>G (p.Leu3717Arg)
c.8414T>G (p.Leu2805Arg)
c.7307T>G (p.Leu2436Arg)
c.11333T>G (p.Leu3778Arg)
c.7085T>G (p.Leu2362Arg)
c.10313T>G (p.Leu3438Arg)
8g.99870845_99870846insCCA2739268948VPS13Bc.*622_*623insC (n.*622_*623insC)
n.11598_11599insC
c.*7210_*7211insC (n.*7210_*7211insC)
c.11453_11454insC (p.His3819ThrfsTer3)
c.11528_11529insC (p.His3844ThrfsTer3)
n.470_471insC
c.11525_11526insC (p.His3843ThrfsTer3)
c.11450_11451insC (p.His3818ThrfsTer3)
c.11150_11151insC (p.His3718ThrfsTer3)
c.8414_8415insC (p.His2806ThrfsTer3)
c.7307_7308insC (p.His2437ThrfsTer3)
c.11333_11334insC (p.His3779ThrfsTer3)
c.7085_7086insC (p.His2363ThrfsTer3)
c.10313_10314insC (p.His3439ThrfsTer3)
 ClinVar
8g.99870846A>CCA462339689VPS13Bc.*623A>C (n.*623A>C)
n.11599A>C
c.*7211A>C (n.*7211A>C)
c.11454A>C (p.Leu3818=)
c.11529A>C (p.Leu3843=)
n.471A>C
c.11526A>C (p.Leu3842=)
c.11451A>C (p.Leu3817=)
c.11151A>C (p.Leu3717=)
c.8415A>C (p.Leu2805=)
c.7308A>C (p.Leu2436=)
c.11334A>C (p.Leu3778=)
c.7086A>C (p.Leu2362=)
c.10314A>C (p.Leu3438=)
8g.99870846A>GCA462339690VPS13Bc.*623A>G (n.*623A>G)
n.11599A>G
c.*7211A>G (n.*7211A>G)
c.11454A>G (p.Leu3818=)
c.11529A>G (p.Leu3843=)
n.471A>G
c.11526A>G (p.Leu3842=)
c.11451A>G (p.Leu3817=)
c.11151A>G (p.Leu3717=)
c.8415A>G (p.Leu2805=)
c.7308A>G (p.Leu2436=)
c.11334A>G (p.Leu3778=)
c.7086A>G (p.Leu2362=)
c.10314A>G (p.Leu3438=)
 ClinVar dbSNP gnomAD v4
8g.99870846A>TCA462339691VPS13Bc.*623A>T (n.*623A>T)
n.11599A>T
c.*7211A>T (n.*7211A>T)
c.11454A>T (p.Leu3818=)
c.11529A>T (p.Leu3843=)
n.471A>T
c.11526A>T (p.Leu3842=)
c.11451A>T (p.Leu3817=)
c.11151A>T (p.Leu3717=)
c.8415A>T (p.Leu2805=)
c.7308A>T (p.Leu2436=)
c.11334A>T (p.Leu3778=)
c.7086A>T (p.Leu2362=)
c.10314A>T (p.Leu3438=)
8g.99870847C>ACA371793669VPS13Bc.*624C>A (n.*624C>A)
n.11600C>A
c.*7212C>A (n.*7212C>A)
c.11455C>A (p.His3819Asn)
c.11530C>A (p.His3844Asn)
n.472C>A
c.11527C>A (p.His3843Asn)
c.11452C>A (p.His3818Asn)
c.11152C>A (p.His3718Asn)
c.8416C>A (p.His2806Asn)
c.7309C>A (p.His2437Asn)
c.11335C>A (p.His3779Asn)
c.7087C>A (p.His2363Asn)
c.10315C>A (p.His3439Asn)
8g.99870847C>GCA371793670VPS13Bc.*624C>G (n.*624C>G)
n.11600C>G
c.*7212C>G (n.*7212C>G)
c.11455C>G (p.His3819Asp)
c.11530C>G (p.His3844Asp)
n.472C>G
c.11527C>G (p.His3843Asp)
c.11452C>G (p.His3818Asp)
c.11152C>G (p.His3718Asp)
c.8416C>G (p.His2806Asp)
c.7309C>G (p.His2437Asp)
c.11335C>G (p.His3779Asp)
c.7087C>G (p.His2363Asp)
c.10315C>G (p.His3439Asp)
8g.99870847C>TCA182331143VPS13Bc.*624C>T (n.*624C>T)
n.11600C>T
c.*7212C>T (n.*7212C>T)
c.11455C>T (p.His3819Tyr)
c.11530C>T (p.His3844Tyr)
n.472C>T
c.11527C>T (p.His3843Tyr)
c.11452C>T (p.His3818Tyr)
c.11152C>T (p.His3718Tyr)
c.8416C>T (p.His2806Tyr)
c.7309C>T (p.His2437Tyr)
c.11335C>T (p.His3779Tyr)
c.7087C>T (p.His2363Tyr)
c.10315C>T (p.His3439Tyr)
 dbSNP
8g.99870848A>CCA371793671VPS13Bc.*625A>C (n.*625A>C)
n.11601A>C
c.*7213A>C (n.*7213A>C)
c.11456A>C (p.His3819Pro)
c.11531A>C (p.His3844Pro)
n.473A>C
c.11528A>C (p.His3843Pro)
c.11453A>C (p.His3818Pro)
c.11153A>C (p.His3718Pro)
c.8417A>C (p.His2806Pro)
c.7310A>C (p.His2437Pro)
c.11336A>C (p.His3779Pro)
c.7088A>C (p.His2363Pro)
c.10316A>C (p.His3439Pro)
 gnomAD v4
8g.99870848A>GCA371793672VPS13Bc.*625A>G (n.*625A>G)
n.11601A>G
c.*7213A>G (n.*7213A>G)
c.11456A>G (p.His3819Arg)
c.11531A>G (p.His3844Arg)
n.473A>G
c.11528A>G (p.His3843Arg)
c.11453A>G (p.His3818Arg)
c.11153A>G (p.His3718Arg)
c.8417A>G (p.His2806Arg)
c.7310A>G (p.His2437Arg)
c.11336A>G (p.His3779Arg)
c.7088A>G (p.His2363Arg)
c.10316A>G (p.His3439Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99870848A>TCA371793673VPS13Bc.*625A>T (n.*625A>T)
n.11601A>T
c.*7213A>T (n.*7213A>T)
c.11456A>T (p.His3819Leu)
c.11531A>T (p.His3844Leu)
n.473A>T
c.11528A>T (p.His3843Leu)
c.11453A>T (p.His3818Leu)
c.11153A>T (p.His3718Leu)
c.8417A>T (p.His2806Leu)
c.7310A>T (p.His2437Leu)
c.11336A>T (p.His3779Leu)
c.7088A>T (p.His2363Leu)
c.10316A>T (p.His3439Leu)
 gnomAD v4
8g.99870849T>ACA371793674VPS13Bc.*626T>A (n.*626T>A)
n.11602T>A
c.*7214T>A (n.*7214T>A)
c.11457T>A (p.His3819Gln)
c.11532T>A (p.His3844Gln)
n.474T>A
c.11529T>A (p.His3843Gln)
c.11454T>A (p.His3818Gln)
c.11154T>A (p.His3718Gln)
c.8418T>A (p.His2806Gln)
c.7311T>A (p.His2437Gln)
c.11337T>A (p.His3779Gln)
c.7089T>A (p.His2363Gln)
c.10317T>A (p.His3439Gln)
8g.99870849T>CCA4825243VPS13Bc.*626T>C (n.*626T>C)
n.11602T>C
c.*7214T>C (n.*7214T>C)
c.11457T>C (p.His3819=)
c.11532T>C (p.His3844=)
n.474T>C
c.11529T>C (p.His3843=)
c.11454T>C (p.His3818=)
c.11154T>C (p.His3718=)
c.8418T>C (p.His2806=)
c.7311T>C (p.His2437=)
c.11337T>C (p.His3779=)
c.7089T>C (p.His2363=)
c.10317T>C (p.His3439=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870849T>GCA371793675VPS13Bc.*626T>G (n.*626T>G)
n.11602T>G
c.*7214T>G (n.*7214T>G)
c.11457T>G (p.His3819Gln)
c.11532T>G (p.His3844Gln)
n.474T>G
c.11529T>G (p.His3843Gln)
c.11454T>G (p.His3818Gln)
c.11154T>G (p.His3718Gln)
c.8418T>G (p.His2806Gln)
c.7311T>G (p.His2437Gln)
c.11337T>G (p.His3779Gln)
c.7089T>G (p.His2363Gln)
c.10317T>G (p.His3439Gln)
8g.99870850G>ACA371793676VPS13Bc.*627G>A (n.*627G>A)
n.11603G>A
c.*7215G>A (n.*7215G>A)
c.11458G>A (p.Ala3820Thr)
c.11533G>A (p.Ala3845Thr)
n.475G>A
c.11530G>A (p.Ala3844Thr)
c.11455G>A (p.Ala3819Thr)
c.11155G>A (p.Ala3719Thr)
c.8419G>A (p.Ala2807Thr)
c.7312G>A (p.Ala2438Thr)
c.11338G>A (p.Ala3780Thr)
c.7090G>A (p.Ala2364Thr)
c.10318G>A (p.Ala3440Thr)
 gnomAD v4
8g.99870850G>CCA371793677VPS13Bc.*627G>C (n.*627G>C)
n.11603G>C
c.*7215G>C (n.*7215G>C)
c.11458G>C (p.Ala3820Pro)
c.11533G>C (p.Ala3845Pro)
n.475G>C
c.11530G>C (p.Ala3844Pro)
c.11455G>C (p.Ala3819Pro)
c.11155G>C (p.Ala3719Pro)
c.8419G>C (p.Ala2807Pro)
c.7312G>C (p.Ala2438Pro)
c.11338G>C (p.Ala3780Pro)
c.7090G>C (p.Ala2364Pro)
c.10318G>C (p.Ala3440Pro)
8g.99870850G>TCA371793678VPS13Bc.*627G>T (n.*627G>T)
n.11603G>T
c.*7215G>T (n.*7215G>T)
c.11458G>T (p.Ala3820Ser)
c.11533G>T (p.Ala3845Ser)
n.475G>T
c.11530G>T (p.Ala3844Ser)
c.11455G>T (p.Ala3819Ser)
c.11155G>T (p.Ala3719Ser)
c.8419G>T (p.Ala2807Ser)
c.7312G>T (p.Ala2438Ser)
c.11338G>T (p.Ala3780Ser)
c.7090G>T (p.Ala2364Ser)
c.10318G>T (p.Ala3440Ser)
8g.99870851C>ACA371793679VPS13Bc.*628C>A (n.*628C>A)
n.11604C>A
c.*7216C>A (n.*7216C>A)
c.11459C>A (p.Ala3820Asp)
c.11534C>A (p.Ala3845Asp)
n.476C>A
c.11531C>A (p.Ala3844Asp)
c.11456C>A (p.Ala3819Asp)
c.11156C>A (p.Ala3719Asp)
c.8420C>A (p.Ala2807Asp)
c.7313C>A (p.Ala2438Asp)
c.11339C>A (p.Ala3780Asp)
c.7091C>A (p.Ala2364Asp)
c.10319C>A (p.Ala3440Asp)
8g.99870851C>GCA371793681VPS13Bc.*628C>G (n.*628C>G)
n.11604C>G
c.*7216C>G (n.*7216C>G)
c.11459C>G (p.Ala3820Gly)
c.11534C>G (p.Ala3845Gly)
n.476C>G
c.11531C>G (p.Ala3844Gly)
c.11456C>G (p.Ala3819Gly)
c.11156C>G (p.Ala3719Gly)
c.8420C>G (p.Ala2807Gly)
c.7313C>G (p.Ala2438Gly)
c.11339C>G (p.Ala3780Gly)
c.7091C>G (p.Ala2364Gly)
c.10319C>G (p.Ala3440Gly)
8g.99870851C>TCA371793680VPS13Bc.*628C>T (n.*628C>T)
n.11604C>T
c.*7216C>T (n.*7216C>T)
c.11459C>T (p.Ala3820Val)
c.11534C>T (p.Ala3845Val)
n.476C>T
c.11531C>T (p.Ala3844Val)
c.11456C>T (p.Ala3819Val)
c.11156C>T (p.Ala3719Val)
c.8420C>T (p.Ala2807Val)
c.7313C>T (p.Ala2438Val)
c.11339C>T (p.Ala3780Val)
c.7091C>T (p.Ala2364Val)
c.10319C>T (p.Ala3440Val)
 dbSNP
8g.99870852T>ACA462339701VPS13Bc.*629T>A (n.*629T>A)
n.11605T>A
c.*7217T>A (n.*7217T>A)
c.11460T>A (p.Ala3820=)
c.11535T>A (p.Ala3845=)
n.477T>A
c.11532T>A (p.Ala3844=)
c.11457T>A (p.Ala3819=)
c.11157T>A (p.Ala3719=)
c.8421T>A (p.Ala2807=)
c.7314T>A (p.Ala2438=)
c.11340T>A (p.Ala3780=)
c.7092T>A (p.Ala2364=)
c.10320T>A (p.Ala3440=)
8g.99870852T>CCA462339702VPS13Bc.*629T>C (n.*629T>C)
n.11605T>C
c.*7217T>C (n.*7217T>C)
c.11460T>C (p.Ala3820=)
c.11535T>C (p.Ala3845=)
n.477T>C
c.11532T>C (p.Ala3844=)
c.11457T>C (p.Ala3819=)
c.11157T>C (p.Ala3719=)
c.8421T>C (p.Ala2807=)
c.7314T>C (p.Ala2438=)
c.11340T>C (p.Ala3780=)
c.7092T>C (p.Ala2364=)
c.10320T>C (p.Ala3440=)
8g.99870852T>GCA462339703VPS13Bc.*629T>G (n.*629T>G)
n.11605T>G
c.*7217T>G (n.*7217T>G)
c.11460T>G (p.Ala3820=)
c.11535T>G (p.Ala3845=)
n.477T>G
c.11532T>G (p.Ala3844=)
c.11457T>G (p.Ala3819=)
c.11157T>G (p.Ala3719=)
c.8421T>G (p.Ala2807=)
c.7314T>G (p.Ala2438=)
c.11340T>G (p.Ala3780=)
c.7092T>G (p.Ala2364=)
c.10320T>G (p.Ala3440=)
8g.99870853G>ACA371793682VPS13Bc.*630G>A (n.*630G>A)
n.11606G>A
c.*7218G>A (n.*7218G>A)
c.11461G>A (p.Asp3821Asn)
c.11536G>A (p.Asp3846Asn)
n.478G>A
c.11533G>A (p.Asp3845Asn)
c.11458G>A (p.Asp3820Asn)
c.11158G>A (p.Asp3720Asn)
c.8422G>A (p.Asp2808Asn)
c.7315G>A (p.Asp2439Asn)
c.11341G>A (p.Asp3781Asn)
c.7093G>A (p.Asp2365Asn)
c.10321G>A (p.Asp3441Asn)
 ClinVar gnomAD v4
8g.99870853G>CCA371793683VPS13Bc.*630G>C (n.*630G>C)
n.11606G>C
c.*7218G>C (n.*7218G>C)
c.11461G>C (p.Asp3821His)
c.11536G>C (p.Asp3846His)
n.478G>C
c.11533G>C (p.Asp3845His)
c.11458G>C (p.Asp3820His)
c.11158G>C (p.Asp3720His)
c.8422G>C (p.Asp2808His)
c.7315G>C (p.Asp2439His)
c.11341G>C (p.Asp3781His)
c.7093G>C (p.Asp2365His)
c.10321G>C (p.Asp3441His)
8g.99870853G>TCA371793684VPS13Bc.*630G>T (n.*630G>T)
n.11606G>T
c.*7218G>T (n.*7218G>T)
c.11461G>T (p.Asp3821Tyr)
c.11536G>T (p.Asp3846Tyr)
n.478G>T
c.11533G>T (p.Asp3845Tyr)
c.11458G>T (p.Asp3820Tyr)
c.11158G>T (p.Asp3720Tyr)
c.8422G>T (p.Asp2808Tyr)
c.7315G>T (p.Asp2439Tyr)
c.11341G>T (p.Asp3781Tyr)
c.7093G>T (p.Asp2365Tyr)
c.10321G>T (p.Asp3441Tyr)
 gnomAD v4
8g.99870854A>CCA371793685VPS13Bc.*631A>C (n.*631A>C)
n.11607A>C
c.*7219A>C (n.*7219A>C)
c.11462A>C (p.Asp3821Ala)
c.11537A>C (p.Asp3846Ala)
n.479A>C
c.11534A>C (p.Asp3845Ala)
c.11459A>C (p.Asp3820Ala)
c.11159A>C (p.Asp3720Ala)
c.8423A>C (p.Asp2808Ala)
c.7316A>C (p.Asp2439Ala)
c.11342A>C (p.Asp3781Ala)
c.7094A>C (p.Asp2365Ala)
c.10322A>C (p.Asp3441Ala)
8g.99870854A>GCA371793686VPS13Bc.*631A>G (n.*631A>G)
n.11607A>G
c.*7219A>G (n.*7219A>G)
c.11462A>G (p.Asp3821Gly)
c.11537A>G (p.Asp3846Gly)
n.479A>G
c.11534A>G (p.Asp3845Gly)
c.11459A>G (p.Asp3820Gly)
c.11159A>G (p.Asp3720Gly)
c.8423A>G (p.Asp2808Gly)
c.7316A>G (p.Asp2439Gly)
c.11342A>G (p.Asp3781Gly)
c.7094A>G (p.Asp2365Gly)
c.10322A>G (p.Asp3441Gly)
 gnomAD v4
8g.99870854A>TCA371793687VPS13Bc.*631A>T (n.*631A>T)
n.11607A>T
c.*7219A>T (n.*7219A>T)
c.11462A>T (p.Asp3821Val)
c.11537A>T (p.Asp3846Val)
n.479A>T
c.11534A>T (p.Asp3845Val)
c.11459A>T (p.Asp3820Val)
c.11159A>T (p.Asp3720Val)
c.8423A>T (p.Asp2808Val)
c.7316A>T (p.Asp2439Val)
c.11342A>T (p.Asp3781Val)
c.7094A>T (p.Asp2365Val)
c.10322A>T (p.Asp3441Val)
8g.99870855C>ACA371793688VPS13Bc.*632C>A (n.*632C>A)
n.11608C>A
c.*7220C>A (n.*7220C>A)
c.11463C>A (p.Asp3821Glu)
c.11538C>A (p.Asp3846Glu)
n.480C>A
c.11535C>A (p.Asp3845Glu)
c.11460C>A (p.Asp3820Glu)
c.11160C>A (p.Asp3720Glu)
c.8424C>A (p.Asp2808Glu)
c.7317C>A (p.Asp2439Glu)
c.11343C>A (p.Asp3781Glu)
c.7095C>A (p.Asp2365Glu)
c.10323C>A (p.Asp3441Glu)
8g.99870855C>GCA4825244VPS13Bc.*632C>G (n.*632C>G)
n.11608C>G
c.*7220C>G (n.*7220C>G)
c.11463C>G (p.Asp3821Glu)
c.11538C>G (p.Asp3846Glu)
n.480C>G
c.11535C>G (p.Asp3845Glu)
c.11460C>G (p.Asp3820Glu)
c.11160C>G (p.Asp3720Glu)
c.8424C>G (p.Asp2808Glu)
c.7317C>G (p.Asp2439Glu)
c.11343C>G (p.Asp3781Glu)
c.7095C>G (p.Asp2365Glu)
c.10323C>G (p.Asp3441Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870855C>TCA462339708VPS13Bc.*632C>T (n.*632C>T)
n.11608C>T
c.*7220C>T (n.*7220C>T)
c.11463C>T (p.Asp3821=)
c.11538C>T (p.Asp3846=)
n.480C>T
c.11535C>T (p.Asp3845=)
c.11460C>T (p.Asp3820=)
c.11160C>T (p.Asp3720=)
c.8424C>T (p.Asp2808=)
c.7317C>T (p.Asp2439=)
c.11343C>T (p.Asp3781=)
c.7095C>T (p.Asp2365=)
c.10323C>T (p.Asp3441=)
 gnomAD v4
8g.99870856C>ACA371793689VPS13Bc.*633C>A (n.*633C>A)
n.11609C>A
c.*7221C>A (n.*7221C>A)
c.11464C>A (p.Gln3822Lys)
c.11539C>A (p.Gln3847Lys)
n.481C>A
c.11536C>A (p.Gln3846Lys)
c.11461C>A (p.Gln3821Lys)
c.11161C>A (p.Gln3721Lys)
c.8425C>A (p.Gln2809Lys)
c.7318C>A (p.Gln2440Lys)
c.11344C>A (p.Gln3782Lys)
c.7096C>A (p.Gln2366Lys)
c.10324C>A (p.Gln3442Lys)
8g.99870856C>GCA371793690VPS13Bc.*633C>G (n.*633C>G)
n.11609C>G
c.*7221C>G (n.*7221C>G)
c.11464C>G (p.Gln3822Glu)
c.11539C>G (p.Gln3847Glu)
n.481C>G
c.11536C>G (p.Gln3846Glu)
c.11461C>G (p.Gln3821Glu)
c.11161C>G (p.Gln3721Glu)
c.8425C>G (p.Gln2809Glu)
c.7318C>G (p.Gln2440Glu)
c.11344C>G (p.Gln3782Glu)
c.7096C>G (p.Gln2366Glu)
c.10324C>G (p.Gln3442Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.99870856C>TCA371793691VPS13Bc.*633C>T (n.*633C>T)
n.11609C>T
c.*7221C>T (n.*7221C>T)
c.11464C>T (p.Gln3822Ter)
c.11539C>T (p.Gln3847Ter)
n.481C>T
c.11536C>T (p.Gln3846Ter)
c.11461C>T (p.Gln3821Ter)
c.11161C>T (p.Gln3721Ter)
c.8425C>T (p.Gln2809Ter)
c.7318C>T (p.Gln2440Ter)
c.11344C>T (p.Gln3782Ter)
c.7096C>T (p.Gln2366Ter)
c.10324C>T (p.Gln3442Ter)
8g.99870857A>CCA371793692VPS13Bc.*634A>C (n.*634A>C)
n.11610A>C
c.*7222A>C (n.*7222A>C)
c.11465A>C (p.Gln3822Pro)
c.11540A>C (p.Gln3847Pro)
n.482A>C
c.11537A>C (p.Gln3846Pro)
c.11462A>C (p.Gln3821Pro)
c.11162A>C (p.Gln3721Pro)
c.8426A>C (p.Gln2809Pro)
c.7319A>C (p.Gln2440Pro)
c.11345A>C (p.Gln3782Pro)
c.7097A>C (p.Gln2366Pro)
c.10325A>C (p.Gln3442Pro)
8g.99870857A>GCA371793693VPS13Bc.*634A>G (n.*634A>G)
n.11610A>G
c.*7222A>G (n.*7222A>G)
c.11465A>G (p.Gln3822Arg)
c.11540A>G (p.Gln3847Arg)
n.482A>G
c.11537A>G (p.Gln3846Arg)
c.11462A>G (p.Gln3821Arg)
c.11162A>G (p.Gln3721Arg)
c.8426A>G (p.Gln2809Arg)
c.7319A>G (p.Gln2440Arg)
c.11345A>G (p.Gln3782Arg)
c.7097A>G (p.Gln2366Arg)
c.10325A>G (p.Gln3442Arg)
8g.99870857A>TCA371793694VPS13Bc.*634A>T (n.*634A>T)
n.11610A>T
c.*7222A>T (n.*7222A>T)
c.11465A>T (p.Gln3822Leu)
c.11540A>T (p.Gln3847Leu)
n.482A>T
c.11537A>T (p.Gln3846Leu)
c.11462A>T (p.Gln3821Leu)
c.11162A>T (p.Gln3721Leu)
c.8426A>T (p.Gln2809Leu)
c.7319A>T (p.Gln2440Leu)
c.11345A>T (p.Gln3782Leu)
c.7097A>T (p.Gln2366Leu)
c.10325A>T (p.Gln3442Leu)
8g.99870858G>ACA462339711VPS13Bc.*635G>A (n.*635G>A)
n.11611G>A
c.*7223G>A (n.*7223G>A)
c.11466G>A (p.Gln3822=)
c.11541G>A (p.Gln3847=)
n.483G>A
c.11538G>A (p.Gln3846=)
c.11463G>A (p.Gln3821=)
c.11163G>A (p.Gln3721=)
c.8427G>A (p.Gln2809=)
c.7320G>A (p.Gln2440=)
c.11346G>A (p.Gln3782=)
c.7098G>A (p.Gln2366=)
c.10326G>A (p.Gln3442=)
8g.99870858G>CCA371793695VPS13Bc.*635G>C (n.*635G>C)
n.11611G>C
c.*7223G>C (n.*7223G>C)
c.11466G>C (p.Gln3822His)
c.11541G>C (p.Gln3847His)
n.483G>C
c.11538G>C (p.Gln3846His)
c.11463G>C (p.Gln3821His)
c.11163G>C (p.Gln3721His)
c.8427G>C (p.Gln2809His)
c.7320G>C (p.Gln2440His)
c.11346G>C (p.Gln3782His)
c.7098G>C (p.Gln2366His)
c.10326G>C (p.Gln3442His)
 gnomAD v4
8g.99870858G>TCA371793696VPS13Bc.*635G>T (n.*635G>T)
n.11611G>T
c.*7223G>T (n.*7223G>T)
c.11466G>T (p.Gln3822His)
c.11541G>T (p.Gln3847His)
n.483G>T
c.11538G>T (p.Gln3846His)
c.11463G>T (p.Gln3821His)
c.11163G>T (p.Gln3721His)
c.8427G>T (p.Gln2809His)
c.7320G>T (p.Gln2440His)
c.11346G>T (p.Gln3782His)
c.7098G>T (p.Gln2366His)
c.10326G>T (p.Gln3442His)
8g.99870859delCA2688073085VPS13Bc.*636del (n.*636del)
n.11612del
c.*7224del (n.*7224del)
c.11467del (p.Ala3823LeufsTer30)
c.11542del (p.Ala3848LeufsTer30)
n.484del
c.11539del (p.Ala3847LeufsTer30)
c.11464del (p.Ala3822LeufsTer30)
c.11164del (p.Ala3722LeufsTer30)
c.8428del (p.Ala2810LeufsTer30)
c.7321del (p.Ala2441LeufsTer30)
c.11347del (p.Ala3783LeufsTer30)
c.7099del (p.Ala2367LeufsTer30)
c.10327del (p.Ala3443LeufsTer30)
 gnomAD v4
8g.99870859G>ACA371793697VPS13Bc.*636G>A (n.*636G>A)
n.11612G>A
c.*7224G>A (n.*7224G>A)
c.11467G>A (p.Ala3823Thr)
c.11542G>A (p.Ala3848Thr)
n.484G>A
c.11539G>A (p.Ala3847Thr)
c.11464G>A (p.Ala3822Thr)
c.11164G>A (p.Ala3722Thr)
c.8428G>A (p.Ala2810Thr)
c.7321G>A (p.Ala2441Thr)
c.11347G>A (p.Ala3783Thr)
c.7099G>A (p.Ala2367Thr)
c.10327G>A (p.Ala3443Thr)
 dbSNP
8g.99870859G>CCA371793698VPS13Bc.*636G>C (n.*636G>C)
n.11612G>C
c.*7224G>C (n.*7224G>C)
c.11467G>C (p.Ala3823Pro)
c.11542G>C (p.Ala3848Pro)
n.484G>C
c.11539G>C (p.Ala3847Pro)
c.11464G>C (p.Ala3822Pro)
c.11164G>C (p.Ala3722Pro)
c.8428G>C (p.Ala2810Pro)
c.7321G>C (p.Ala2441Pro)
c.11347G>C (p.Ala3783Pro)
c.7099G>C (p.Ala2367Pro)
c.10327G>C (p.Ala3443Pro)
8g.99870859G>TCA371793699VPS13Bc.*636G>T (n.*636G>T)
n.11612G>T
c.*7224G>T (n.*7224G>T)
c.11467G>T (p.Ala3823Ser)
c.11542G>T (p.Ala3848Ser)
n.484G>T
c.11539G>T (p.Ala3847Ser)
c.11464G>T (p.Ala3822Ser)
c.11164G>T (p.Ala3722Ser)
c.8428G>T (p.Ala2810Ser)
c.7321G>T (p.Ala2441Ser)
c.11347G>T (p.Ala3783Ser)
c.7099G>T (p.Ala2367Ser)
c.10327G>T (p.Ala3443Ser)
8g.99870860C>ACA371793700VPS13Bc.*637C>A (n.*637C>A)
n.11613C>A
c.*7225C>A (n.*7225C>A)
c.11468C>A (p.Ala3823Asp)
c.11543C>A (p.Ala3848Asp)
n.485C>A
c.11540C>A (p.Ala3847Asp)
c.11465C>A (p.Ala3822Asp)
c.11165C>A (p.Ala3722Asp)
c.8429C>A (p.Ala2810Asp)
c.7322C>A (p.Ala2441Asp)
c.11348C>A (p.Ala3783Asp)
c.7100C>A (p.Ala2367Asp)
c.10328C>A (p.Ala3443Asp)
8g.99870860C>GCA371793701VPS13Bc.*637C>G (n.*637C>G)
n.11613C>G
c.*7225C>G (n.*7225C>G)
c.11468C>G (p.Ala3823Gly)
c.11543C>G (p.Ala3848Gly)
n.485C>G
c.11540C>G (p.Ala3847Gly)
c.11465C>G (p.Ala3822Gly)
c.11165C>G (p.Ala3722Gly)
c.8429C>G (p.Ala2810Gly)
c.7322C>G (p.Ala2441Gly)
c.11348C>G (p.Ala3783Gly)
c.7100C>G (p.Ala2367Gly)
c.10328C>G (p.Ala3443Gly)
8g.99870860C>TCA371793702VPS13Bc.*637C>T (n.*637C>T)
n.11613C>T
c.*7225C>T (n.*7225C>T)
c.11468C>T (p.Ala3823Val)
c.11543C>T (p.Ala3848Val)
n.485C>T
c.11540C>T (p.Ala3847Val)
c.11465C>T (p.Ala3822Val)
c.11165C>T (p.Ala3722Val)
c.8429C>T (p.Ala2810Val)
c.7322C>T (p.Ala2441Val)
c.11348C>T (p.Ala3783Val)
c.7100C>T (p.Ala2367Val)
c.10328C>T (p.Ala3443Val)
8g.99870861T>ACA462339718VPS13Bc.*638T>A (n.*638T>A)
n.11614T>A
c.*7226T>A (n.*7226T>A)
c.11469T>A (p.Ala3823=)
c.11544T>A (p.Ala3848=)
n.486T>A
c.11541T>A (p.Ala3847=)
c.11466T>A (p.Ala3822=)
c.11166T>A (p.Ala3722=)
c.8430T>A (p.Ala2810=)
c.7323T>A (p.Ala2441=)
c.11349T>A (p.Ala3783=)
c.7101T>A (p.Ala2367=)
c.10329T>A (p.Ala3443=)
8g.99870861T>CCA462339719VPS13Bc.*638T>C (n.*638T>C)
n.11614T>C
c.*7226T>C (n.*7226T>C)
c.11469T>C (p.Ala3823=)
c.11544T>C (p.Ala3848=)
n.486T>C
c.11541T>C (p.Ala3847=)
c.11466T>C (p.Ala3822=)
c.11166T>C (p.Ala3722=)
c.8430T>C (p.Ala2810=)
c.7323T>C (p.Ala2441=)
c.11349T>C (p.Ala3783=)
c.7101T>C (p.Ala2367=)
c.10329T>C (p.Ala3443=)
8g.99870861T>GCA462339720VPS13Bc.*638T>G (n.*638T>G)
n.11614T>G
c.*7226T>G (n.*7226T>G)
c.11469T>G (p.Ala3823=)
c.11544T>G (p.Ala3848=)
n.486T>G
c.11541T>G (p.Ala3847=)
c.11466T>G (p.Ala3822=)
c.11166T>G (p.Ala3722=)
c.8430T>G (p.Ala2810=)
c.7323T>G (p.Ala2441=)
c.11349T>G (p.Ala3783=)
c.7101T>G (p.Ala2367=)
c.10329T>G (p.Ala3443=)
8g.99870862C>ACA371793703VPS13Bc.*639C>A (n.*639C>A)
n.11615C>A
c.*7227C>A (n.*7227C>A)
c.11470C>A (p.Pro3824Thr)
c.11545C>A (p.Pro3849Thr)
n.487C>A
c.11542C>A (p.Pro3848Thr)
c.11467C>A (p.Pro3823Thr)
c.11167C>A (p.Pro3723Thr)
c.8431C>A (p.Pro2811Thr)
c.7324C>A (p.Pro2442Thr)
c.11350C>A (p.Pro3784Thr)
c.7102C>A (p.Pro2368Thr)
c.10330C>A (p.Pro3444Thr)
8g.99870862C>GCA371793704VPS13Bc.*639C>G (n.*639C>G)
n.11615C>G
c.*7227C>G (n.*7227C>G)
c.11470C>G (p.Pro3824Ala)
c.11545C>G (p.Pro3849Ala)
n.487C>G
c.11542C>G (p.Pro3848Ala)
c.11467C>G (p.Pro3823Ala)
c.11167C>G (p.Pro3723Ala)
c.8431C>G (p.Pro2811Ala)
c.7324C>G (p.Pro2442Ala)
c.11350C>G (p.Pro3784Ala)
c.7102C>G (p.Pro2368Ala)
c.10330C>G (p.Pro3444Ala)
 dbSNP
8g.99870862C>TCA4825245VPS13Bc.*639C>T (n.*639C>T)
n.11615C>T
c.*7227C>T (n.*7227C>T)
c.11470C>T (p.Pro3824Ser)
c.11545C>T (p.Pro3849Ser)
n.487C>T
c.11542C>T (p.Pro3848Ser)
c.11467C>T (p.Pro3823Ser)
c.11167C>T (p.Pro3723Ser)
c.8431C>T (p.Pro2811Ser)
c.7324C>T (p.Pro2442Ser)
c.11350C>T (p.Pro3784Ser)
c.7102C>T (p.Pro2368Ser)
c.10330C>T (p.Pro3444Ser)
 dbSNP ExAC gnomAD v2
8g.99870863C>ACA182331157VPS13Bc.*640C>A (n.*640C>A)
n.11616C>A
c.*7228C>A (n.*7228C>A)
c.11471C>A (p.Pro3824Gln)
c.11546C>A (p.Pro3849Gln)
n.488C>A
c.11543C>A (p.Pro3848Gln)
c.11468C>A (p.Pro3823Gln)
c.11168C>A (p.Pro3723Gln)
c.8432C>A (p.Pro2811Gln)
c.7325C>A (p.Pro2442Gln)
c.11351C>A (p.Pro3784Gln)
c.7103C>A (p.Pro2368Gln)
c.10331C>A (p.Pro3444Gln)
 dbSNP
8g.99870863C>GCA371793705VPS13Bc.*640C>G (n.*640C>G)
n.11616C>G
c.*7228C>G (n.*7228C>G)
c.11471C>G (p.Pro3824Arg)
c.11546C>G (p.Pro3849Arg)
n.488C>G
c.11543C>G (p.Pro3848Arg)
c.11468C>G (p.Pro3823Arg)
c.11168C>G (p.Pro3723Arg)
c.8432C>G (p.Pro2811Arg)
c.7325C>G (p.Pro2442Arg)
c.11351C>G (p.Pro3784Arg)
c.7103C>G (p.Pro2368Arg)
c.10331C>G (p.Pro3444Arg)
8g.99870863C>TCA371793706VPS13Bc.*640C>T (n.*640C>T)
n.11616C>T
c.*7228C>T (n.*7228C>T)
c.11471C>T (p.Pro3824Leu)
c.11546C>T (p.Pro3849Leu)
n.488C>T
c.11543C>T (p.Pro3848Leu)
c.11468C>T (p.Pro3823Leu)
c.11168C>T (p.Pro3723Leu)
c.8432C>T (p.Pro2811Leu)
c.7325C>T (p.Pro2442Leu)
c.11351C>T (p.Pro3784Leu)
c.7103C>T (p.Pro2368Leu)
c.10331C>T (p.Pro3444Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99870863_99870866delinsTGTCA16041277VPS13Bc.*640_*643delinsTGT (n.*640_*643delinsTGT)
n.11616_11619delinsTGT
c.*7228_*7231delinsTGT (n.*7228_*7231delinsTGT)
c.11471_11474delinsTGT (p.Pro3824LeufsTer29)
c.11546_11549delinsTGT (p.Pro3849LeufsTer29)
n.488_491delinsTGT
c.11543_11546delinsTGT (p.Pro3848LeufsTer29)
c.11468_11471delinsTGT (p.Pro3823LeufsTer29)
c.11168_11171delinsTGT (p.Pro3723LeufsTer29)
c.8432_8435delinsTGT (p.Pro2811LeufsTer29)
c.7325_7328delinsTGT (p.Pro2442LeufsTer29)
c.11351_11354delinsTGT (p.Pro3784LeufsTer29)
c.7103_7106delinsTGT (p.Pro2368LeufsTer29)
c.10331_10334delinsTGT (p.Pro3444LeufsTer29)
 ClinVar dbSNP
8g.99870865_99870868delCA2573143505VPS13Bc.*642_*645del (n.*642_*645del)
n.11618_11621del
c.*7230_*7233del (n.*7230_*7233del)
c.11473_11476del (p.Asn3825AlafsTer27)
c.11548_11551del (p.Asn3850AlafsTer27)
n.490_493del
c.11545_11548del (p.Asn3849AlafsTer27)
c.11470_11473del (p.Asn3824AlafsTer27)
c.11170_11173del (p.Asn3724AlafsTer27)
c.8434_8437del (p.Asn2812AlafsTer27)
c.7327_7330del (p.Asn2443AlafsTer27)
c.11353_11356del (p.Asn3785AlafsTer27)
c.7105_7108del (p.Asn2369AlafsTer27)
c.10333_10336del (p.Asn3445AlafsTer27)
 ClinVar dbSNP
8g.99870864A>CCA462339727VPS13Bc.*641A>C (n.*641A>C)
n.11617A>C
c.*7229A>C (n.*7229A>C)
c.11472A>C (p.Pro3824=)
c.11547A>C (p.Pro3849=)
n.489A>C
c.11544A>C (p.Pro3848=)
c.11469A>C (p.Pro3823=)
c.11169A>C (p.Pro3723=)
c.8433A>C (p.Pro2811=)
c.7326A>C (p.Pro2442=)
c.11352A>C (p.Pro3784=)
c.7104A>C (p.Pro2368=)
c.10332A>C (p.Pro3444=)
8g.99870864A>GCA462339724VPS13Bc.*641A>G (n.*641A>G)
n.11617A>G
c.*7229A>G (n.*7229A>G)
c.11472A>G (p.Pro3824=)
c.11547A>G (p.Pro3849=)
n.489A>G
c.11544A>G (p.Pro3848=)
c.11469A>G (p.Pro3823=)
c.11169A>G (p.Pro3723=)
c.8433A>G (p.Pro2811=)
c.7326A>G (p.Pro2442=)
c.11352A>G (p.Pro3784=)
c.7104A>G (p.Pro2368=)
c.10332A>G (p.Pro3444=)
 ClinVar dbSNP gnomAD v4
8g.99870864A>TCA462339725VPS13Bc.*641A>T (n.*641A>T)
n.11617A>T
c.*7229A>T (n.*7229A>T)
c.11472A>T (p.Pro3824=)
c.11547A>T (p.Pro3849=)
n.489A>T
c.11544A>T (p.Pro3848=)
c.11469A>T (p.Pro3823=)
c.11169A>T (p.Pro3723=)
c.8433A>T (p.Pro2811=)
c.7326A>T (p.Pro2442=)
c.11352A>T (p.Pro3784=)
c.7104A>T (p.Pro2368=)
c.10332A>T (p.Pro3444=)
8g.99870865A>CCA371793708VPS13Bc.*642A>C (n.*642A>C)
n.11618A>C
c.*7230A>C (n.*7230A>C)
c.11473A>C (p.Asn3825His)
c.11548A>C (p.Asn3850His)
n.490A>C
c.11545A>C (p.Asn3849His)
c.11470A>C (p.Asn3824His)
c.11170A>C (p.Asn3724His)
c.8434A>C (p.Asn2812His)
c.7327A>C (p.Asn2443His)
c.11353A>C (p.Asn3785His)
c.7105A>C (p.Asn2369His)
c.10333A>C (p.Asn3445His)
8g.99870865A>GCA371793709VPS13Bc.*642A>G (n.*642A>G)
n.11618A>G
c.*7230A>G (n.*7230A>G)
c.11473A>G (p.Asn3825Asp)
c.11548A>G (p.Asn3850Asp)
n.490A>G
c.11545A>G (p.Asn3849Asp)
c.11470A>G (p.Asn3824Asp)
c.11170A>G (p.Asn3724Asp)
c.8434A>G (p.Asn2812Asp)
c.7327A>G (p.Asn2443Asp)
c.11353A>G (p.Asn3785Asp)
c.7105A>G (p.Asn2369Asp)
c.10333A>G (p.Asn3445Asp)
8g.99870865A>TCA371793707VPS13Bc.*642A>T (n.*642A>T)
n.11618A>T
c.*7230A>T (n.*7230A>T)
c.11473A>T (p.Asn3825Tyr)
c.11548A>T (p.Asn3850Tyr)
n.490A>T
c.11545A>T (p.Asn3849Tyr)
c.11470A>T (p.Asn3824Tyr)
c.11170A>T (p.Asn3724Tyr)
c.8434A>T (p.Asn2812Tyr)
c.7327A>T (p.Asn2443Tyr)
c.11353A>T (p.Asn3785Tyr)
c.7105A>T (p.Asn2369Tyr)
c.10333A>T (p.Asn3445Tyr)
8g.99870866A>CCA371793710VPS13Bc.*643A>C (n.*643A>C)
n.11619A>C
c.*7231A>C (n.*7231A>C)
c.11474A>C (p.Asn3825Thr)
c.11549A>C (p.Asn3850Thr)
n.491A>C
c.11546A>C (p.Asn3849Thr)
c.11471A>C (p.Asn3824Thr)
c.11171A>C (p.Asn3724Thr)
c.8435A>C (p.Asn2812Thr)
c.7328A>C (p.Asn2443Thr)
c.11354A>C (p.Asn3785Thr)
c.7106A>C (p.Asn2369Thr)
c.10334A>C (p.Asn3445Thr)
8g.99870866A>GCA4825246VPS13Bc.*643A>G (n.*643A>G)
n.11619A>G
c.*7231A>G (n.*7231A>G)
c.11474A>G (p.Asn3825Ser)
c.11549A>G (p.Asn3850Ser)
n.491A>G
c.11546A>G (p.Asn3849Ser)
c.11471A>G (p.Asn3824Ser)
c.11171A>G (p.Asn3724Ser)
c.8435A>G (p.Asn2812Ser)
c.7328A>G (p.Asn2443Ser)
c.11354A>G (p.Asn3785Ser)
c.7106A>G (p.Asn2369Ser)
c.10334A>G (p.Asn3445Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99870866A>TCA371793711VPS13Bc.*643A>T (n.*643A>T)
n.11619A>T
c.*7231A>T (n.*7231A>T)
c.11474A>T (p.Asn3825Ile)
c.11549A>T (p.Asn3850Ile)
n.491A>T
c.11546A>T (p.Asn3849Ile)
c.11471A>T (p.Asn3824Ile)
c.11171A>T (p.Asn3724Ile)
c.8435A>T (p.Asn2812Ile)
c.7328A>T (p.Asn2443Ile)
c.11354A>T (p.Asn3785Ile)
c.7106A>T (p.Asn2369Ile)
c.10334A>T (p.Asn3445Ile)
8g.99870867C>ACA371793712VPS13Bc.*644C>A (n.*644C>A)
n.11620C>A
c.*7232C>A (n.*7232C>A)
c.11475C>A (p.Asn3825Lys)
c.11550C>A (p.Asn3850Lys)
n.492C>A
c.11547C>A (p.Asn3849Lys)
c.11472C>A (p.Asn3824Lys)
c.11172C>A (p.Asn3724Lys)
c.8436C>A (p.Asn2812Lys)
c.7329C>A (p.Asn2443Lys)
c.11355C>A (p.Asn3785Lys)
c.7107C>A (p.Asn2369Lys)
c.10335C>A (p.Asn3445Lys)
8g.99870867C>GCA371793713VPS13Bc.*644C>G (n.*644C>G)
n.11620C>G
c.*7232C>G (n.*7232C>G)
c.11475C>G (p.Asn3825Lys)
c.11550C>G (p.Asn3850Lys)
n.492C>G
c.11547C>G (p.Asn3849Lys)
c.11472C>G (p.Asn3824Lys)
c.11172C>G (p.Asn3724Lys)
c.8436C>G (p.Asn2812Lys)
c.7329C>G (p.Asn2443Lys)
c.11355C>G (p.Asn3785Lys)
c.7107C>G (p.Asn2369Lys)
c.10335C>G (p.Asn3445Lys)
 gnomAD v4
8g.99870867C>TCA462339731VPS13Bc.*644C>T (n.*644C>T)
n.11620C>T
c.*7232C>T (n.*7232C>T)
c.11475C>T (p.Asn3825=)
c.11550C>T (p.Asn3850=)
n.492C>T
c.11547C>T (p.Asn3849=)
c.11472C>T (p.Asn3824=)
c.11172C>T (p.Asn3724=)
c.8436C>T (p.Asn2812=)
c.7329C>T (p.Asn2443=)
c.11355C>T (p.Asn3785=)
c.7107C>T (p.Asn2369=)
c.10335C>T (p.Asn3445=)
 gnomAD v4
8g.99870868A>CCA371793714VPS13Bc.*645A>C (n.*645A>C)
n.11621A>C
c.*7233A>C (n.*7233A>C)
c.11476A>C (p.Ser3826Arg)
c.11551A>C (p.Ser3851Arg)
n.493A>C
c.11548A>C (p.Ser3850Arg)
c.11473A>C (p.Ser3825Arg)
c.11173A>C (p.Ser3725Arg)
c.8437A>C (p.Ser2813Arg)
c.7330A>C (p.Ser2444Arg)
c.11356A>C (p.Ser3786Arg)
c.7108A>C (p.Ser2370Arg)
c.10336A>C (p.Ser3446Arg)
8g.99870868A>GCA182331158VPS13Bc.*645A>G (n.*645A>G)
n.11621A>G
c.*7233A>G (n.*7233A>G)
c.11476A>G (p.Ser3826Gly)
c.11551A>G (p.Ser3851Gly)
n.493A>G
c.11548A>G (p.Ser3850Gly)
c.11473A>G (p.Ser3825Gly)
c.11173A>G (p.Ser3725Gly)
c.8437A>G (p.Ser2813Gly)
c.7330A>G (p.Ser2444Gly)
c.11356A>G (p.Ser3786Gly)
c.7108A>G (p.Ser2370Gly)
c.10336A>G (p.Ser3446Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.99870868A>TCA371793715VPS13Bc.*645A>T (n.*645A>T)
n.11621A>T
c.*7233A>T (n.*7233A>T)
c.11476A>T (p.Ser3826Cys)
c.11551A>T (p.Ser3851Cys)
n.493A>T
c.11548A>T (p.Ser3850Cys)
c.11473A>T (p.Ser3825Cys)
c.11173A>T (p.Ser3725Cys)
c.8437A>T (p.Ser2813Cys)
c.7330A>T (p.Ser2444Cys)
c.11356A>T (p.Ser3786Cys)
c.7108A>T (p.Ser2370Cys)
c.10336A>T (p.Ser3446Cys)
8g.99870869G>ACA371793716VPS13Bc.*646G>A (n.*646G>A)
n.11622G>A
c.*7234G>A (n.*7234G>A)
c.11477G>A (p.Ser3826Asn)
c.11552G>A (p.Ser3851Asn)
n.494G>A
c.11549G>A (p.Ser3850Asn)
c.11474G>A (p.Ser3825Asn)
c.11174G>A (p.Ser3725Asn)
c.8438G>A (p.Ser2813Asn)
c.7331G>A (p.Ser2444Asn)
c.11357G>A (p.Ser3786Asn)
c.7109G>A (p.Ser2370Asn)
c.10337G>A (p.Ser3446Asn)
8g.99870869G>CCA371793718VPS13Bc.*646G>C (n.*646G>C)
n.11622G>C
c.*7234G>C (n.*7234G>C)
c.11477G>C (p.Ser3826Thr)
c.11552G>C (p.Ser3851Thr)
n.494G>C
c.11549G>C (p.Ser3850Thr)
c.11474G>C (p.Ser3825Thr)
c.11174G>C (p.Ser3725Thr)
c.8438G>C (p.Ser2813Thr)
c.7331G>C (p.Ser2444Thr)
c.11357G>C (p.Ser3786Thr)
c.7109G>C (p.Ser2370Thr)
c.10337G>C (p.Ser3446Thr)
8g.99870869G>TCA371793717VPS13Bc.*646G>T (n.*646G>T)
n.11622G>T
c.*7234G>T (n.*7234G>T)
c.11477G>T (p.Ser3826Ile)
c.11552G>T (p.Ser3851Ile)
n.494G>T
c.11549G>T (p.Ser3850Ile)
c.11474G>T (p.Ser3825Ile)
c.11174G>T (p.Ser3725Ile)
c.8438G>T (p.Ser2813Ile)
c.7331G>T (p.Ser2444Ile)
c.11357G>T (p.Ser3786Ile)
c.7109G>T (p.Ser2370Ile)
c.10337G>T (p.Ser3446Ile)
8g.99870870C>ACA371793719VPS13Bc.*647C>A (n.*647C>A)
n.11623C>A
c.*7235C>A (n.*7235C>A)
c.11478C>A (p.Ser3826Arg)
c.11553C>A (p.Ser3851Arg)
n.495C>A
c.11550C>A (p.Ser3850Arg)
c.11475C>A (p.Ser3825Arg)
c.11175C>A (p.Ser3725Arg)
c.8439C>A (p.Ser2813Arg)
c.7332C>A (p.Ser2444Arg)
c.11358C>A (p.Ser3786Arg)
c.7110C>A (p.Ser2370Arg)
c.10338C>A (p.Ser3446Arg)
8g.99870870C>GCA371793720VPS13Bc.*647C>G (n.*647C>G)
n.11623C>G
c.*7235C>G (n.*7235C>G)
c.11478C>G (p.Ser3826Arg)
c.11553C>G (p.Ser3851Arg)
n.495C>G
c.11550C>G (p.Ser3850Arg)
c.11475C>G (p.Ser3825Arg)
c.11175C>G (p.Ser3725Arg)
c.8439C>G (p.Ser2813Arg)
c.7332C>G (p.Ser2444Arg)
c.11358C>G (p.Ser3786Arg)
c.7110C>G (p.Ser2370Arg)
c.10338C>G (p.Ser3446Arg)
8g.99870870C>TCA462339735VPS13Bc.*647C>T (n.*647C>T)
n.11623C>T
c.*7235C>T (n.*7235C>T)
c.11478C>T (p.Ser3826=)
c.11553C>T (p.Ser3851=)
n.495C>T
c.11550C>T (p.Ser3850=)
c.11475C>T (p.Ser3825=)
c.11175C>T (p.Ser3725=)
c.8439C>T (p.Ser2813=)
c.7332C>T (p.Ser2444=)
c.11358C>T (p.Ser3786=)
c.7110C>T (p.Ser2370=)
c.10338C>T (p.Ser3446=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99870871C>ACA371793721VPS13Bc.*648C>A (n.*648C>A)
n.11624C>A
c.*7236C>A (n.*7236C>A)
c.11479C>A (p.His3827Asn)
c.11554C>A (p.His3852Asn)
n.496C>A
c.11551C>A (p.His3851Asn)
c.11476C>A (p.His3826Asn)
c.11176C>A (p.His3726Asn)
c.8440C>A (p.His2814Asn)
c.7333C>A (p.His2445Asn)
c.11359C>A (p.His3787Asn)
c.7111C>A (p.His2371Asn)
c.10339C>A (p.His3447Asn)
8g.99870871C>GCA371793722VPS13Bc.*648C>G (n.*648C>G)
n.11624C>G
c.*7236C>G (n.*7236C>G)
c.11479C>G (p.His3827Asp)
c.11554C>G (p.His3852Asp)
n.496C>G
c.11551C>G (p.His3851Asp)
c.11476C>G (p.His3826Asp)
c.11176C>G (p.His3726Asp)
c.8440C>G (p.His2814Asp)
c.7333C>G (p.His2445Asp)
c.11359C>G (p.His3787Asp)
c.7111C>G (p.His2371Asp)
c.10339C>G (p.His3447Asp)
8g.99870871C>TCA371793723VPS13Bc.*648C>T (n.*648C>T)
n.11624C>T
c.*7236C>T (n.*7236C>T)
c.11479C>T (p.His3827Tyr)
c.11554C>T (p.His3852Tyr)
n.496C>T
c.11551C>T (p.His3851Tyr)
c.11476C>T (p.His3826Tyr)
c.11176C>T (p.His3726Tyr)
c.8440C>T (p.His2814Tyr)
c.7333C>T (p.His2445Tyr)
c.11359C>T (p.His3787Tyr)
c.7111C>T (p.His2371Tyr)
c.10339C>T (p.His3447Tyr)
 COSMIC COSMIC
8g.99870872A>CCA371793724VPS13Bc.*649A>C (n.*649A>C)
n.11625A>C
c.*7237A>C (n.*7237A>C)
c.11480A>C (p.His3827Pro)
c.11555A>C (p.His3852Pro)
n.497A>C
c.11552A>C (p.His3851Pro)
c.11477A>C (p.His3826Pro)
c.11177A>C (p.His3726Pro)
c.8441A>C (p.His2814Pro)
c.7334A>C (p.His2445Pro)
c.11360A>C (p.His3787Pro)
c.7112A>C (p.His2371Pro)
c.10340A>C (p.His3447Pro)
8g.99870872A>GCA371793725VPS13Bc.*649A>G (n.*649A>G)
n.11625A>G
c.*7237A>G (n.*7237A>G)
c.11480A>G (p.His3827Arg)
c.11555A>G (p.His3852Arg)
n.497A>G
c.11552A>G (p.His3851Arg)
c.11477A>G (p.His3826Arg)
c.11177A>G (p.His3726Arg)
c.8441A>G (p.His2814Arg)
c.7334A>G (p.His2445Arg)
c.11360A>G (p.His3787Arg)
c.7112A>G (p.His2371Arg)
c.10340A>G (p.His3447Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99870872A>TCA371793726VPS13Bc.*649A>T (n.*649A>T)
n.11625A>T
c.*7237A>T (n.*7237A>T)
c.11480A>T (p.His3827Leu)
c.11555A>T (p.His3852Leu)
n.497A>T
c.11552A>T (p.His3851Leu)
c.11477A>T (p.His3826Leu)
c.11177A>T (p.His3726Leu)
c.8441A>T (p.His2814Leu)
c.7334A>T (p.His2445Leu)
c.11360A>T (p.His3787Leu)
c.7112A>T (p.His2371Leu)
c.10340A>T (p.His3447Leu)
8g.99870873T>ACA371793727VPS13Bc.*650T>A (n.*650T>A)
n.11626T>A
c.*7238T>A (n.*7238T>A)
c.11481T>A (p.His3827Gln)
c.11556T>A (p.His3852Gln)
n.498T>A
c.11553T>A (p.His3851Gln)
c.11478T>A (p.His3826Gln)
c.11178T>A (p.His3726Gln)
c.8442T>A (p.His2814Gln)
c.7335T>A (p.His2445Gln)
c.11361T>A (p.His3787Gln)
c.7113T>A (p.His2371Gln)
c.10341T>A (p.His3447Gln)
 gnomAD v4
8g.99870873T>CCA462339742VPS13Bc.*650T>C (n.*650T>C)
n.11626T>C
c.*7238T>C (n.*7238T>C)
c.11481T>C (p.His3827=)
c.11556T>C (p.His3852=)
n.498T>C
c.11553T>C (p.His3851=)
c.11478T>C (p.His3826=)
c.11178T>C (p.His3726=)
c.8442T>C (p.His2814=)
c.7335T>C (p.His2445=)
c.11361T>C (p.His3787=)
c.7113T>C (p.His2371=)
c.10341T>C (p.His3447=)
8g.99870873T>GCA371793728VPS13Bc.*650T>G (n.*650T>G)
n.11626T>G
c.*7238T>G (n.*7238T>G)
c.11481T>G (p.His3827Gln)
c.11556T>G (p.His3852Gln)
n.498T>G
c.11553T>G (p.His3851Gln)
c.11478T>G (p.His3826Gln)
c.11178T>G (p.His3726Gln)
c.8442T>G (p.His2814Gln)
c.7335T>G (p.His2445Gln)
c.11361T>G (p.His3787Gln)
c.7113T>G (p.His2371Gln)
c.10341T>G (p.His3447Gln)
 ClinVar dbSNP
8g.99870873dupCA264014VPS13Bc.*650dup (n.*650dup)
n.11626dup
c.*7238dup (n.*7238dup)
c.11481dup (p.Val3828CysfsTer?)
c.11556dup (p.Val3853CysfsTer?)
n.498dup
c.11553dup (p.Val3852CysfsTer?)
c.11478dup (p.Val3827CysfsTer?)
c.11178dup (p.Val3727CysfsTer?)
c.8442dup (p.Val2815CysfsTer?)
c.7335dup (p.Val2446CysfsTer?)
c.11361dup (p.Val3788CysfsTer?)
c.7113dup (p.Val2372CysfsTer?)
c.10341dup (p.Val3448CysfsTer?)
 ClinVar dbSNP

Number of alleles fetched