Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99819449T>ACA371776158VPS13Bc.8734T>A (p.Ser2912Thr)
n.8804T>A
c.*4416T>A (n.*4416T>A)
c.8659T>A (p.Ser2887Thr)
c.8731T>A (p.Ser2911Thr)
c.8656T>A (p.Ser2886Thr)
c.8356T>A (p.Ser2786Thr)
c.5620T>A (p.Ser1874Thr)
c.4513T>A (p.Ser1505Thr)
c.8539T>A (p.Ser2847Thr)
c.4291T>A (p.Ser1431Thr)
c.7519T>A (p.Ser2507Thr)
8g.99819449T>CCA371776159VPS13Bc.8734T>C (p.Ser2912Pro)
n.8804T>C
c.*4416T>C (n.*4416T>C)
c.8659T>C (p.Ser2887Pro)
c.8731T>C (p.Ser2911Pro)
c.8656T>C (p.Ser2886Pro)
c.8356T>C (p.Ser2786Pro)
c.5620T>C (p.Ser1874Pro)
c.4513T>C (p.Ser1505Pro)
c.8539T>C (p.Ser2847Pro)
c.4291T>C (p.Ser1431Pro)
c.7519T>C (p.Ser2507Pro)
8g.99819449T>GCA371776160VPS13Bc.8734T>G (p.Ser2912Ala)
n.8804T>G
c.*4416T>G (n.*4416T>G)
c.8659T>G (p.Ser2887Ala)
c.8731T>G (p.Ser2911Ala)
c.8656T>G (p.Ser2886Ala)
c.8356T>G (p.Ser2786Ala)
c.5620T>G (p.Ser1874Ala)
c.4513T>G (p.Ser1505Ala)
c.8539T>G (p.Ser2847Ala)
c.4291T>G (p.Ser1431Ala)
c.7519T>G (p.Ser2507Ala)
8g.99819450C>ACA371776161VPS13Bc.8735C>A (p.Ser2912Ter)
n.8805C>A
c.*4417C>A (n.*4417C>A)
c.8660C>A (p.Ser2887Ter)
c.8732C>A (p.Ser2911Ter)
c.8657C>A (p.Ser2886Ter)
c.8357C>A (p.Ser2786Ter)
c.5621C>A (p.Ser1874Ter)
c.4514C>A (p.Ser1505Ter)
c.8540C>A (p.Ser2847Ter)
c.4292C>A (p.Ser1431Ter)
c.7520C>A (p.Ser2507Ter)
8g.99819450C>GCA371776162VPS13Bc.8735C>G (p.Ser2912Ter)
n.8805C>G
c.*4417C>G (n.*4417C>G)
c.8660C>G (p.Ser2887Ter)
c.8732C>G (p.Ser2911Ter)
c.8657C>G (p.Ser2886Ter)
c.8357C>G (p.Ser2786Ter)
c.5621C>G (p.Ser1874Ter)
c.4514C>G (p.Ser1505Ter)
c.8540C>G (p.Ser2847Ter)
c.4292C>G (p.Ser1431Ter)
c.7520C>G (p.Ser2507Ter)
 dbSNP
8g.99819450C>TCA371776164VPS13Bc.8735C>T (p.Ser2912Leu)
n.8805C>T
c.*4417C>T (n.*4417C>T)
c.8660C>T (p.Ser2887Leu)
c.8732C>T (p.Ser2911Leu)
c.8657C>T (p.Ser2886Leu)
c.8357C>T (p.Ser2786Leu)
c.5621C>T (p.Ser1874Leu)
c.4514C>T (p.Ser1505Leu)
c.8540C>T (p.Ser2847Leu)
c.4292C>T (p.Ser1431Leu)
c.7520C>T (p.Ser2507Leu)
 gnomAD v4
8g.99819451A>CCA462339398VPS13Bc.8736A>C (p.Ser2912=)
n.8806A>C
c.*4418A>C (n.*4418A>C)
c.8661A>C (p.Ser2887=)
c.8733A>C (p.Ser2911=)
c.8658A>C (p.Ser2886=)
c.8358A>C (p.Ser2786=)
c.5622A>C (p.Ser1874=)
c.4515A>C (p.Ser1505=)
c.8541A>C (p.Ser2847=)
c.4293A>C (p.Ser1431=)
c.7521A>C (p.Ser2507=)
8g.99819451A>GCA4824521VPS13Bc.8736A>G (p.Ser2912=)
n.8806A>G
c.*4418A>G (n.*4418A>G)
c.8661A>G (p.Ser2887=)
c.8733A>G (p.Ser2911=)
c.8658A>G (p.Ser2886=)
c.8358A>G (p.Ser2786=)
c.5622A>G (p.Ser1874=)
c.4515A>G (p.Ser1505=)
c.8541A>G (p.Ser2847=)
c.4293A>G (p.Ser1431=)
c.7521A>G (p.Ser2507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819451A>TCA462339400VPS13Bc.8736A>T (p.Ser2912=)
n.8806A>T
c.*4418A>T (n.*4418A>T)
c.8661A>T (p.Ser2887=)
c.8733A>T (p.Ser2911=)
c.8658A>T (p.Ser2886=)
c.8358A>T (p.Ser2786=)
c.5622A>T (p.Ser1874=)
c.4515A>T (p.Ser1505=)
c.8541A>T (p.Ser2847=)
c.4293A>T (p.Ser1431=)
c.7521A>T (p.Ser2507=)
8g.99819452A>CCA371776167VPS13Bc.8737A>C (p.Thr2913Pro)
n.8807A>C
c.*4419A>C (n.*4419A>C)
c.8662A>C (p.Thr2888Pro)
c.8734A>C (p.Thr2912Pro)
c.8659A>C (p.Thr2887Pro)
c.8359A>C (p.Thr2787Pro)
c.5623A>C (p.Thr1875Pro)
c.4516A>C (p.Thr1506Pro)
c.8542A>C (p.Thr2848Pro)
c.4294A>C (p.Thr1432Pro)
c.7522A>C (p.Thr2508Pro)
8g.99819452A>GCA371776169VPS13Bc.8737A>G (p.Thr2913Ala)
n.8807A>G
c.*4419A>G (n.*4419A>G)
c.8662A>G (p.Thr2888Ala)
c.8734A>G (p.Thr2912Ala)
c.8659A>G (p.Thr2887Ala)
c.8359A>G (p.Thr2787Ala)
c.5623A>G (p.Thr1875Ala)
c.4516A>G (p.Thr1506Ala)
c.8542A>G (p.Thr2848Ala)
c.4294A>G (p.Thr1432Ala)
c.7522A>G (p.Thr2508Ala)
 COSMIC COSMIC
8g.99819452A>TCA371776171VPS13Bc.8737A>T (p.Thr2913Ser)
n.8807A>T
c.*4419A>T (n.*4419A>T)
c.8662A>T (p.Thr2888Ser)
c.8734A>T (p.Thr2912Ser)
c.8659A>T (p.Thr2887Ser)
c.8359A>T (p.Thr2787Ser)
c.5623A>T (p.Thr1875Ser)
c.4516A>T (p.Thr1506Ser)
c.8542A>T (p.Thr2848Ser)
c.4294A>T (p.Thr1432Ser)
c.7522A>T (p.Thr2508Ser)
8g.99819453C>ACA371776172VPS13Bc.8738C>A (p.Thr2913Lys)
n.8808C>A
c.*4420C>A (n.*4420C>A)
c.8663C>A (p.Thr2888Lys)
c.8735C>A (p.Thr2912Lys)
c.8660C>A (p.Thr2887Lys)
c.8360C>A (p.Thr2787Lys)
c.5624C>A (p.Thr1875Lys)
c.4517C>A (p.Thr1506Lys)
c.8543C>A (p.Thr2848Lys)
c.4295C>A (p.Thr1432Lys)
c.7523C>A (p.Thr2508Lys)
8g.99819453C>GCA371776176VPS13Bc.8738C>G (p.Thr2913Arg)
n.8808C>G
c.*4420C>G (n.*4420C>G)
c.8663C>G (p.Thr2888Arg)
c.8735C>G (p.Thr2912Arg)
c.8660C>G (p.Thr2887Arg)
c.8360C>G (p.Thr2787Arg)
c.5624C>G (p.Thr1875Arg)
c.4517C>G (p.Thr1506Arg)
c.8543C>G (p.Thr2848Arg)
c.4295C>G (p.Thr1432Arg)
c.7523C>G (p.Thr2508Arg)
8g.99819453C>TCA371776174VPS13Bc.8738C>T (p.Thr2913Ile)
n.8808C>T
c.*4420C>T (n.*4420C>T)
c.8663C>T (p.Thr2888Ile)
c.8735C>T (p.Thr2912Ile)
c.8660C>T (p.Thr2887Ile)
c.8360C>T (p.Thr2787Ile)
c.5624C>T (p.Thr1875Ile)
c.4517C>T (p.Thr1506Ile)
c.8543C>T (p.Thr2848Ile)
c.4295C>T (p.Thr1432Ile)
c.7523C>T (p.Thr2508Ile)
8g.99819454A>CCA462339460VPS13Bc.8739A>C (p.Thr2913=)
n.8809A>C
c.*4421A>C (n.*4421A>C)
c.8664A>C (p.Thr2888=)
c.8736A>C (p.Thr2912=)
c.8661A>C (p.Thr2887=)
c.8361A>C (p.Thr2787=)
c.5625A>C (p.Thr1875=)
c.4518A>C (p.Thr1506=)
c.8544A>C (p.Thr2848=)
c.4296A>C (p.Thr1432=)
c.7524A>C (p.Thr2508=)
8g.99819454A>GCA4824522VPS13Bc.8739A>G (p.Thr2913=)
n.8809A>G
c.*4421A>G (n.*4421A>G)
c.8664A>G (p.Thr2888=)
c.8736A>G (p.Thr2912=)
c.8661A>G (p.Thr2887=)
c.8361A>G (p.Thr2787=)
c.5625A>G (p.Thr1875=)
c.4518A>G (p.Thr1506=)
c.8544A>G (p.Thr2848=)
c.4296A>G (p.Thr1432=)
c.7524A>G (p.Thr2508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819454A>TCA462339461VPS13Bc.8739A>T (p.Thr2913=)
n.8809A>T
c.*4421A>T (n.*4421A>T)
c.8664A>T (p.Thr2888=)
c.8736A>T (p.Thr2912=)
c.8661A>T (p.Thr2887=)
c.8361A>T (p.Thr2787=)
c.5625A>T (p.Thr1875=)
c.4518A>T (p.Thr1506=)
c.8544A>T (p.Thr2848=)
c.4296A>T (p.Thr1432=)
c.7524A>T (p.Thr2508=)
8g.99819455T>ACA371776179VPS13Bc.8740T>A (p.Ser2914Thr)
n.8810T>A
c.*4422T>A (n.*4422T>A)
c.8665T>A (p.Ser2889Thr)
c.8737T>A (p.Ser2913Thr)
c.8662T>A (p.Ser2888Thr)
c.8362T>A (p.Ser2788Thr)
c.5626T>A (p.Ser1876Thr)
c.4519T>A (p.Ser1507Thr)
c.8545T>A (p.Ser2849Thr)
c.4297T>A (p.Ser1433Thr)
c.7525T>A (p.Ser2509Thr)
8g.99819455T>CCA371776181VPS13Bc.8740T>C (p.Ser2914Pro)
n.8810T>C
c.*4422T>C (n.*4422T>C)
c.8665T>C (p.Ser2889Pro)
c.8737T>C (p.Ser2913Pro)
c.8662T>C (p.Ser2888Pro)
c.8362T>C (p.Ser2788Pro)
c.5626T>C (p.Ser1876Pro)
c.4519T>C (p.Ser1507Pro)
c.8545T>C (p.Ser2849Pro)
c.4297T>C (p.Ser1433Pro)
c.7525T>C (p.Ser2509Pro)
8g.99819455T>GCA371776183VPS13Bc.8740T>G (p.Ser2914Ala)
n.8810T>G
c.*4422T>G (n.*4422T>G)
c.8665T>G (p.Ser2889Ala)
c.8737T>G (p.Ser2913Ala)
c.8662T>G (p.Ser2888Ala)
c.8362T>G (p.Ser2788Ala)
c.5626T>G (p.Ser1876Ala)
c.4519T>G (p.Ser1507Ala)
c.8545T>G (p.Ser2849Ala)
c.4297T>G (p.Ser1433Ala)
c.7525T>G (p.Ser2509Ala)
8g.99819456C>ACA371776185VPS13Bc.8741C>A (p.Ser2914Tyr)
n.8811C>A
c.*4423C>A (n.*4423C>A)
c.8666C>A (p.Ser2889Tyr)
c.8738C>A (p.Ser2913Tyr)
c.8663C>A (p.Ser2888Tyr)
c.8363C>A (p.Ser2788Tyr)
c.5627C>A (p.Ser1876Tyr)
c.4520C>A (p.Ser1507Tyr)
c.8546C>A (p.Ser2849Tyr)
c.4298C>A (p.Ser1433Tyr)
c.7526C>A (p.Ser2509Tyr)
8g.99819456C>GCA371776187VPS13Bc.8741C>G (p.Ser2914Cys)
n.8811C>G
c.*4423C>G (n.*4423C>G)
c.8666C>G (p.Ser2889Cys)
c.8738C>G (p.Ser2913Cys)
c.8663C>G (p.Ser2888Cys)
c.8363C>G (p.Ser2788Cys)
c.5627C>G (p.Ser1876Cys)
c.4520C>G (p.Ser1507Cys)
c.8546C>G (p.Ser2849Cys)
c.4298C>G (p.Ser1433Cys)
c.7526C>G (p.Ser2509Cys)
8g.99819456C>TCA371776189VPS13Bc.8741C>T (p.Ser2914Phe)
n.8811C>T
c.*4423C>T (n.*4423C>T)
c.8666C>T (p.Ser2889Phe)
c.8738C>T (p.Ser2913Phe)
c.8663C>T (p.Ser2888Phe)
c.8363C>T (p.Ser2788Phe)
c.5627C>T (p.Ser1876Phe)
c.4520C>T (p.Ser1507Phe)
c.8546C>T (p.Ser2849Phe)
c.4298C>T (p.Ser1433Phe)
c.7526C>T (p.Ser2509Phe)
8g.99819457C>ACA462339462VPS13Bc.8742C>A (p.Ser2914=)
n.8812C>A
c.*4424C>A (n.*4424C>A)
c.8667C>A (p.Ser2889=)
c.8739C>A (p.Ser2913=)
c.8664C>A (p.Ser2888=)
c.8364C>A (p.Ser2788=)
c.5628C>A (p.Ser1876=)
c.4521C>A (p.Ser1507=)
c.8547C>A (p.Ser2849=)
c.4299C>A (p.Ser1433=)
c.7527C>A (p.Ser2509=)
8g.99819457C>GCA462339463VPS13Bc.8742C>G (p.Ser2914=)
n.8812C>G
c.*4424C>G (n.*4424C>G)
c.8667C>G (p.Ser2889=)
c.8739C>G (p.Ser2913=)
c.8664C>G (p.Ser2888=)
c.8364C>G (p.Ser2788=)
c.5628C>G (p.Ser1876=)
c.4521C>G (p.Ser1507=)
c.8547C>G (p.Ser2849=)
c.4299C>G (p.Ser1433=)
c.7527C>G (p.Ser2509=)
8g.99819457C>TCA462339464VPS13Bc.8742C>T (p.Ser2914=)
n.8812C>T
c.*4424C>T (n.*4424C>T)
c.8667C>T (p.Ser2889=)
c.8739C>T (p.Ser2913=)
c.8664C>T (p.Ser2888=)
c.8364C>T (p.Ser2788=)
c.5628C>T (p.Ser1876=)
c.4521C>T (p.Ser1507=)
c.8547C>T (p.Ser2849=)
c.4299C>T (p.Ser1433=)
c.7527C>T (p.Ser2509=)
 ClinVar dbSNP
8g.99819458C>ACA371776192VPS13Bc.8743C>A (p.Leu2915Ile)
n.8813C>A
c.*4425C>A (n.*4425C>A)
c.8668C>A (p.Leu2890Ile)
c.8740C>A (p.Leu2914Ile)
c.8665C>A (p.Leu2889Ile)
c.8365C>A (p.Leu2789Ile)
c.5629C>A (p.Leu1877Ile)
c.4522C>A (p.Leu1508Ile)
c.8548C>A (p.Leu2850Ile)
c.4300C>A (p.Leu1434Ile)
c.7528C>A (p.Leu2510Ile)
8g.99819458C>GCA4824523VPS13Bc.8743C>G (p.Leu2915Val)
n.8813C>G
c.*4425C>G (n.*4425C>G)
c.8668C>G (p.Leu2890Val)
c.8740C>G (p.Leu2914Val)
c.8665C>G (p.Leu2889Val)
c.8365C>G (p.Leu2789Val)
c.5629C>G (p.Leu1877Val)
c.4522C>G (p.Leu1508Val)
c.8548C>G (p.Leu2850Val)
c.4300C>G (p.Leu1434Val)
c.7528C>G (p.Leu2510Val)
 dbSNP ExAC gnomAD v2
8g.99819458C>TCA371776194VPS13Bc.8743C>T (p.Leu2915Phe)
n.8813C>T
c.*4425C>T (n.*4425C>T)
c.8668C>T (p.Leu2890Phe)
c.8740C>T (p.Leu2914Phe)
c.8665C>T (p.Leu2889Phe)
c.8365C>T (p.Leu2789Phe)
c.5629C>T (p.Leu1877Phe)
c.4522C>T (p.Leu1508Phe)
c.8548C>T (p.Leu2850Phe)
c.4300C>T (p.Leu1434Phe)
c.7528C>T (p.Leu2510Phe)
8g.99819459T>ACA371776196VPS13Bc.8744T>A (p.Leu2915His)
n.8814T>A
c.*4426T>A (n.*4426T>A)
c.8669T>A (p.Leu2890His)
c.8741T>A (p.Leu2914His)
c.8666T>A (p.Leu2889His)
c.8366T>A (p.Leu2789His)
c.5630T>A (p.Leu1877His)
c.4523T>A (p.Leu1508His)
c.8549T>A (p.Leu2850His)
c.4301T>A (p.Leu1434His)
c.7529T>A (p.Leu2510His)
8g.99819459T>CCA371776198VPS13Bc.8744T>C (p.Leu2915Pro)
n.8814T>C
c.*4426T>C (n.*4426T>C)
c.8669T>C (p.Leu2890Pro)
c.8741T>C (p.Leu2914Pro)
c.8666T>C (p.Leu2889Pro)
c.8366T>C (p.Leu2789Pro)
c.5630T>C (p.Leu1877Pro)
c.4523T>C (p.Leu1508Pro)
c.8549T>C (p.Leu2850Pro)
c.4301T>C (p.Leu1434Pro)
c.7529T>C (p.Leu2510Pro)
8g.99819459T>GCA371776199VPS13Bc.8744T>G (p.Leu2915Arg)
n.8814T>G
c.*4426T>G (n.*4426T>G)
c.8669T>G (p.Leu2890Arg)
c.8741T>G (p.Leu2914Arg)
c.8666T>G (p.Leu2889Arg)
c.8366T>G (p.Leu2789Arg)
c.5630T>G (p.Leu1877Arg)
c.4523T>G (p.Leu1508Arg)
c.8549T>G (p.Leu2850Arg)
c.4301T>G (p.Leu1434Arg)
c.7529T>G (p.Leu2510Arg)
8g.99819460C>ACA462339465VPS13Bc.8745C>A (p.Leu2915=)
n.8815C>A
c.*4427C>A (n.*4427C>A)
c.8670C>A (p.Leu2890=)
c.8742C>A (p.Leu2914=)
c.8667C>A (p.Leu2889=)
c.8367C>A (p.Leu2789=)
c.5631C>A (p.Leu1877=)
c.4524C>A (p.Leu1508=)
c.8550C>A (p.Leu2850=)
c.4302C>A (p.Leu1434=)
c.7530C>A (p.Leu2510=)
8g.99819460C>GCA462339466VPS13Bc.8745C>G (p.Leu2915=)
n.8815C>G
c.*4427C>G (n.*4427C>G)
c.8670C>G (p.Leu2890=)
c.8742C>G (p.Leu2914=)
c.8667C>G (p.Leu2889=)
c.8367C>G (p.Leu2789=)
c.5631C>G (p.Leu1877=)
c.4524C>G (p.Leu1508=)
c.8550C>G (p.Leu2850=)
c.4302C>G (p.Leu1434=)
c.7530C>G (p.Leu2510=)
8g.99819460C>TCA462339467VPS13Bc.8745C>T (p.Leu2915=)
n.8815C>T
c.*4427C>T (n.*4427C>T)
c.8670C>T (p.Leu2890=)
c.8742C>T (p.Leu2914=)
c.8667C>T (p.Leu2889=)
c.8367C>T (p.Leu2789=)
c.5631C>T (p.Leu1877=)
c.4524C>T (p.Leu1508=)
c.8550C>T (p.Leu2850=)
c.4302C>T (p.Leu1434=)
c.7530C>T (p.Leu2510=)
 COSMIC
8g.99819461A>CCA371776202VPS13Bc.8746A>C (p.Ile2916Leu)
n.8816A>C
c.*4428A>C (n.*4428A>C)
c.8671A>C (p.Ile2891Leu)
c.8743A>C (p.Ile2915Leu)
c.8668A>C (p.Ile2890Leu)
c.8368A>C (p.Ile2790Leu)
c.5632A>C (p.Ile1878Leu)
c.4525A>C (p.Ile1509Leu)
c.8551A>C (p.Ile2851Leu)
c.4303A>C (p.Ile1435Leu)
c.7531A>C (p.Ile2511Leu)
8g.99819461A>GCA371776205VPS13Bc.8746A>G (p.Ile2916Val)
n.8816A>G
c.*4428A>G (n.*4428A>G)
c.8671A>G (p.Ile2891Val)
c.8743A>G (p.Ile2915Val)
c.8668A>G (p.Ile2890Val)
c.8368A>G (p.Ile2790Val)
c.5632A>G (p.Ile1878Val)
c.4525A>G (p.Ile1509Val)
c.8551A>G (p.Ile2851Val)
c.4303A>G (p.Ile1435Val)
c.7531A>G (p.Ile2511Val)
 ClinVar dbSNP
8g.99819461A>TCA371776204VPS13Bc.8746A>T (p.Ile2916Phe)
n.8816A>T
c.*4428A>T (n.*4428A>T)
c.8671A>T (p.Ile2891Phe)
c.8743A>T (p.Ile2915Phe)
c.8668A>T (p.Ile2890Phe)
c.8368A>T (p.Ile2790Phe)
c.5632A>T (p.Ile1878Phe)
c.4525A>T (p.Ile1509Phe)
c.8551A>T (p.Ile2851Phe)
c.4303A>T (p.Ile1435Phe)
c.7531A>T (p.Ile2511Phe)
8g.99819462T>ACA371776207VPS13Bc.8747T>A (p.Ile2916Asn)
n.8817T>A
c.*4429T>A (n.*4429T>A)
c.8672T>A (p.Ile2891Asn)
c.8744T>A (p.Ile2915Asn)
c.8669T>A (p.Ile2890Asn)
c.8369T>A (p.Ile2790Asn)
c.5633T>A (p.Ile1878Asn)
c.4526T>A (p.Ile1509Asn)
c.8552T>A (p.Ile2851Asn)
c.4304T>A (p.Ile1435Asn)
c.7532T>A (p.Ile2511Asn)
8g.99819462T>CCA371776210VPS13Bc.8747T>C (p.Ile2916Thr)
n.8817T>C
c.*4429T>C (n.*4429T>C)
c.8672T>C (p.Ile2891Thr)
c.8744T>C (p.Ile2915Thr)
c.8669T>C (p.Ile2890Thr)
c.8369T>C (p.Ile2790Thr)
c.5633T>C (p.Ile1878Thr)
c.4526T>C (p.Ile1509Thr)
c.8552T>C (p.Ile2851Thr)
c.4304T>C (p.Ile1435Thr)
c.7532T>C (p.Ile2511Thr)
8g.99819462T>GCA371776211VPS13Bc.8747T>G (p.Ile2916Ser)
n.8817T>G
c.*4429T>G (n.*4429T>G)
c.8672T>G (p.Ile2891Ser)
c.8744T>G (p.Ile2915Ser)
c.8669T>G (p.Ile2890Ser)
c.8369T>G (p.Ile2790Ser)
c.5633T>G (p.Ile1878Ser)
c.4526T>G (p.Ile1509Ser)
c.8552T>G (p.Ile2851Ser)
c.4304T>G (p.Ile1435Ser)
c.7532T>G (p.Ile2511Ser)
 dbSNP gnomAD v4
8g.99819463T>ACA462339468VPS13Bc.8748T>A (p.Ile2916=)
n.8818T>A
c.*4430T>A (n.*4430T>A)
c.8673T>A (p.Ile2891=)
c.8745T>A (p.Ile2915=)
c.8670T>A (p.Ile2890=)
c.8370T>A (p.Ile2790=)
c.5634T>A (p.Ile1878=)
c.4527T>A (p.Ile1509=)
c.8553T>A (p.Ile2851=)
c.4305T>A (p.Ile1435=)
c.7533T>A (p.Ile2511=)
8g.99819463T>CCA462339469VPS13Bc.8748T>C (p.Ile2916=)
n.8818T>C
c.*4430T>C (n.*4430T>C)
c.8673T>C (p.Ile2891=)
c.8745T>C (p.Ile2915=)
c.8670T>C (p.Ile2890=)
c.8370T>C (p.Ile2790=)
c.5634T>C (p.Ile1878=)
c.4527T>C (p.Ile1509=)
c.8553T>C (p.Ile2851=)
c.4305T>C (p.Ile1435=)
c.7533T>C (p.Ile2511=)
8g.99819463T>GCA371776213VPS13Bc.8748T>G (p.Ile2916Met)
n.8818T>G
c.*4430T>G (n.*4430T>G)
c.8673T>G (p.Ile2891Met)
c.8745T>G (p.Ile2915Met)
c.8670T>G (p.Ile2890Met)
c.8370T>G (p.Ile2790Met)
c.5634T>G (p.Ile1878Met)
c.4527T>G (p.Ile1509Met)
c.8553T>G (p.Ile2851Met)
c.4305T>G (p.Ile1435Met)
c.7533T>G (p.Ile2511Met)
8g.99819464A>CCA371776216VPS13Bc.8749A>C (p.Lys2917Gln)
n.8819A>C
c.*4431A>C (n.*4431A>C)
c.8674A>C (p.Lys2892Gln)
c.8746A>C (p.Lys2916Gln)
c.8671A>C (p.Lys2891Gln)
c.8371A>C (p.Lys2791Gln)
c.5635A>C (p.Lys1879Gln)
c.4528A>C (p.Lys1510Gln)
c.8554A>C (p.Lys2852Gln)
c.4306A>C (p.Lys1436Gln)
c.7534A>C (p.Lys2512Gln)
8g.99819464A>GCA371776217VPS13Bc.8749A>G (p.Lys2917Glu)
n.8819A>G
c.*4431A>G (n.*4431A>G)
c.8674A>G (p.Lys2892Glu)
c.8746A>G (p.Lys2916Glu)
c.8671A>G (p.Lys2891Glu)
c.8371A>G (p.Lys2791Glu)
c.5635A>G (p.Lys1879Glu)
c.4528A>G (p.Lys1510Glu)
c.8554A>G (p.Lys2852Glu)
c.4306A>G (p.Lys1436Glu)
c.7534A>G (p.Lys2512Glu)
 gnomAD v4
8g.99819464A>TCA371776219VPS13Bc.8749A>T (p.Lys2917Ter)
n.8819A>T
c.*4431A>T (n.*4431A>T)
c.8674A>T (p.Lys2892Ter)
c.8746A>T (p.Lys2916Ter)
c.8671A>T (p.Lys2891Ter)
c.8371A>T (p.Lys2791Ter)
c.5635A>T (p.Lys1879Ter)
c.4528A>T (p.Lys1510Ter)
c.8554A>T (p.Lys2852Ter)
c.4306A>T (p.Lys1436Ter)
c.7534A>T (p.Lys2512Ter)
8g.99819465A>CCA371776221VPS13Bc.8750A>C (p.Lys2917Thr)
n.8820A>C
c.*4432A>C (n.*4432A>C)
c.8675A>C (p.Lys2892Thr)
c.8747A>C (p.Lys2916Thr)
c.8672A>C (p.Lys2891Thr)
c.8372A>C (p.Lys2791Thr)
c.5636A>C (p.Lys1879Thr)
c.4529A>C (p.Lys1510Thr)
c.8555A>C (p.Lys2852Thr)
c.4307A>C (p.Lys1436Thr)
c.7535A>C (p.Lys2512Thr)
8g.99819465A>GCA371776223VPS13Bc.8750A>G (p.Lys2917Arg)
n.8820A>G
c.*4432A>G (n.*4432A>G)
c.8675A>G (p.Lys2892Arg)
c.8747A>G (p.Lys2916Arg)
c.8672A>G (p.Lys2891Arg)
c.8372A>G (p.Lys2791Arg)
c.5636A>G (p.Lys1879Arg)
c.4529A>G (p.Lys1510Arg)
c.8555A>G (p.Lys2852Arg)
c.4307A>G (p.Lys1436Arg)
c.7535A>G (p.Lys2512Arg)
 gnomAD v4
8g.99819465A>TCA371776225VPS13Bc.8750A>T (p.Lys2917Met)
n.8820A>T
c.*4432A>T (n.*4432A>T)
c.8675A>T (p.Lys2892Met)
c.8747A>T (p.Lys2916Met)
c.8672A>T (p.Lys2891Met)
c.8372A>T (p.Lys2791Met)
c.5636A>T (p.Lys1879Met)
c.4529A>T (p.Lys1510Met)
c.8555A>T (p.Lys2852Met)
c.4307A>T (p.Lys1436Met)
c.7535A>T (p.Lys2512Met)
8g.99819466G>ACA462339470VPS13Bc.8751G>A (p.Lys2917=)
n.8821G>A
c.*4433G>A (n.*4433G>A)
c.8676G>A (p.Lys2892=)
c.8748G>A (p.Lys2916=)
c.8673G>A (p.Lys2891=)
c.8373G>A (p.Lys2791=)
c.5637G>A (p.Lys1879=)
c.4530G>A (p.Lys1510=)
c.8556G>A (p.Lys2852=)
c.4308G>A (p.Lys1436=)
c.7536G>A (p.Lys2512=)
8g.99819466G>CCA371776229VPS13Bc.8751G>C (p.Lys2917Asn)
n.8821G>C
c.*4433G>C (n.*4433G>C)
c.8676G>C (p.Lys2892Asn)
c.8748G>C (p.Lys2916Asn)
c.8673G>C (p.Lys2891Asn)
c.8373G>C (p.Lys2791Asn)
c.5637G>C (p.Lys1879Asn)
c.4530G>C (p.Lys1510Asn)
c.8556G>C (p.Lys2852Asn)
c.4308G>C (p.Lys1436Asn)
c.7536G>C (p.Lys2512Asn)
8g.99819466G>TCA371776227VPS13Bc.8751G>T (p.Lys2917Asn)
n.8821G>T
c.*4433G>T (n.*4433G>T)
c.8676G>T (p.Lys2892Asn)
c.8748G>T (p.Lys2916Asn)
c.8673G>T (p.Lys2891Asn)
c.8373G>T (p.Lys2791Asn)
c.5637G>T (p.Lys1879Asn)
c.4530G>T (p.Lys1510Asn)
c.8556G>T (p.Lys2852Asn)
c.4308G>T (p.Lys1436Asn)
c.7536G>T (p.Lys2512Asn)
8g.99819467C>ACA182328672VPS13Bc.8752C>A (p.Gln2918Lys)
n.8822C>A
c.*4434C>A (n.*4434C>A)
c.8677C>A (p.Gln2893Lys)
c.8749C>A (p.Gln2917Lys)
c.8674C>A (p.Gln2892Lys)
c.8374C>A (p.Gln2792Lys)
c.5638C>A (p.Gln1880Lys)
c.4531C>A (p.Gln1511Lys)
c.8557C>A (p.Gln2853Lys)
c.4309C>A (p.Gln1437Lys)
c.7537C>A (p.Gln2513Lys)
 dbSNP
8g.99819467C>GCA371776234VPS13Bc.8752C>G (p.Gln2918Glu)
n.8822C>G
c.*4434C>G (n.*4434C>G)
c.8677C>G (p.Gln2893Glu)
c.8749C>G (p.Gln2917Glu)
c.8674C>G (p.Gln2892Glu)
c.8374C>G (p.Gln2792Glu)
c.5638C>G (p.Gln1880Glu)
c.4531C>G (p.Gln1511Glu)
c.8557C>G (p.Gln2853Glu)
c.4309C>G (p.Gln1437Glu)
c.7537C>G (p.Gln2513Glu)
8g.99819467C>TCA371776232VPS13Bc.8752C>T (p.Gln2918Ter)
n.8822C>T
c.*4434C>T (n.*4434C>T)
c.8677C>T (p.Gln2893Ter)
c.8749C>T (p.Gln2917Ter)
c.8674C>T (p.Gln2892Ter)
c.8374C>T (p.Gln2792Ter)
c.5638C>T (p.Gln1880Ter)
c.4531C>T (p.Gln1511Ter)
c.8557C>T (p.Gln2853Ter)
c.4309C>T (p.Gln1437Ter)
c.7537C>T (p.Gln2513Ter)
8g.99819468A>CCA371776236VPS13Bc.8753A>C (p.Gln2918Pro)
n.8823A>C
c.*4435A>C (n.*4435A>C)
c.8678A>C (p.Gln2893Pro)
c.8750A>C (p.Gln2917Pro)
c.8675A>C (p.Gln2892Pro)
c.8375A>C (p.Gln2792Pro)
c.5639A>C (p.Gln1880Pro)
c.4532A>C (p.Gln1511Pro)
c.8558A>C (p.Gln2853Pro)
c.4310A>C (p.Gln1437Pro)
c.7538A>C (p.Gln2513Pro)
8g.99819468A>GCA371776239VPS13Bc.8753A>G (p.Gln2918Arg)
n.8823A>G
c.*4435A>G (n.*4435A>G)
c.8678A>G (p.Gln2893Arg)
c.8750A>G (p.Gln2917Arg)
c.8675A>G (p.Gln2892Arg)
c.8375A>G (p.Gln2792Arg)
c.5639A>G (p.Gln1880Arg)
c.4532A>G (p.Gln1511Arg)
c.8558A>G (p.Gln2853Arg)
c.4310A>G (p.Gln1437Arg)
c.7538A>G (p.Gln2513Arg)
8g.99819468A>TCA371776238VPS13Bc.8753A>T (p.Gln2918Leu)
n.8823A>T
c.*4435A>T (n.*4435A>T)
c.8678A>T (p.Gln2893Leu)
c.8750A>T (p.Gln2917Leu)
c.8675A>T (p.Gln2892Leu)
c.8375A>T (p.Gln2792Leu)
c.5639A>T (p.Gln1880Leu)
c.4532A>T (p.Gln1511Leu)
c.8558A>T (p.Gln2853Leu)
c.4310A>T (p.Gln1437Leu)
c.7538A>T (p.Gln2513Leu)
8g.99819469A>CCA371776241VPS13Bc.8754A>C (p.Gln2918His)
n.8824A>C
c.*4436A>C (n.*4436A>C)
c.8679A>C (p.Gln2893His)
c.8751A>C (p.Gln2917His)
c.8676A>C (p.Gln2892His)
c.8376A>C (p.Gln2792His)
c.5640A>C (p.Gln1880His)
c.4533A>C (p.Gln1511His)
c.8559A>C (p.Gln2853His)
c.4311A>C (p.Gln1437His)
c.7539A>C (p.Gln2513His)
8g.99819469A>GCA462339471VPS13Bc.8754A>G (p.Gln2918=)
n.8824A>G
c.*4436A>G (n.*4436A>G)
c.8679A>G (p.Gln2893=)
c.8751A>G (p.Gln2917=)
c.8676A>G (p.Gln2892=)
c.8376A>G (p.Gln2792=)
c.5640A>G (p.Gln1880=)
c.4533A>G (p.Gln1511=)
c.8559A>G (p.Gln2853=)
c.4311A>G (p.Gln1437=)
c.7539A>G (p.Gln2513=)
 gnomAD v4
8g.99819469A>TCA371776242VPS13Bc.8754A>T (p.Gln2918His)
n.8824A>T
c.*4436A>T (n.*4436A>T)
c.8679A>T (p.Gln2893His)
c.8751A>T (p.Gln2917His)
c.8676A>T (p.Gln2892His)
c.8376A>T (p.Gln2792His)
c.5640A>T (p.Gln1880His)
c.4533A>T (p.Gln1511His)
c.8559A>T (p.Gln2853His)
c.4311A>T (p.Gln1437His)
c.7539A>T (p.Gln2513His)
8g.99819470A>CCA371776244VPS13Bc.8755A>C (p.Ile2919Leu)
n.8825A>C
c.*4437A>C (n.*4437A>C)
c.8680A>C (p.Ile2894Leu)
c.8752A>C (p.Ile2918Leu)
c.8677A>C (p.Ile2893Leu)
c.8377A>C (p.Ile2793Leu)
c.5641A>C (p.Ile1881Leu)
c.4534A>C (p.Ile1512Leu)
c.8560A>C (p.Ile2854Leu)
c.4312A>C (p.Ile1438Leu)
c.7540A>C (p.Ile2514Leu)
8g.99819470A>GCA371776246VPS13Bc.8755A>G (p.Ile2919Val)
n.8825A>G
c.*4437A>G (n.*4437A>G)
c.8680A>G (p.Ile2894Val)
c.8752A>G (p.Ile2918Val)
c.8677A>G (p.Ile2893Val)
c.8377A>G (p.Ile2793Val)
c.5641A>G (p.Ile1881Val)
c.4534A>G (p.Ile1512Val)
c.8560A>G (p.Ile2854Val)
c.4312A>G (p.Ile1438Val)
c.7540A>G (p.Ile2514Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99819470A>TCA371776248VPS13Bc.8755A>T (p.Ile2919Leu)
n.8825A>T
c.*4437A>T (n.*4437A>T)
c.8680A>T (p.Ile2894Leu)
c.8752A>T (p.Ile2918Leu)
c.8677A>T (p.Ile2893Leu)
c.8377A>T (p.Ile2793Leu)
c.5641A>T (p.Ile1881Leu)
c.4534A>T (p.Ile1512Leu)
c.8560A>T (p.Ile2854Leu)
c.4312A>T (p.Ile1438Leu)
c.7540A>T (p.Ile2514Leu)
8g.99819471T>ACA371776251VPS13Bc.8756T>A (p.Ile2919Lys)
n.8826T>A
c.*4438T>A (n.*4438T>A)
c.8681T>A (p.Ile2894Lys)
c.8753T>A (p.Ile2918Lys)
c.8678T>A (p.Ile2893Lys)
c.8378T>A (p.Ile2793Lys)
c.5642T>A (p.Ile1881Lys)
c.4535T>A (p.Ile1512Lys)
c.8561T>A (p.Ile2854Lys)
c.4313T>A (p.Ile1438Lys)
c.7541T>A (p.Ile2514Lys)
8g.99819471T>CCA371776252VPS13Bc.8756T>C (p.Ile2919Thr)
n.8826T>C
c.*4438T>C (n.*4438T>C)
c.8681T>C (p.Ile2894Thr)
c.8753T>C (p.Ile2918Thr)
c.8678T>C (p.Ile2893Thr)
c.8378T>C (p.Ile2793Thr)
c.5642T>C (p.Ile1881Thr)
c.4535T>C (p.Ile1512Thr)
c.8561T>C (p.Ile2854Thr)
c.4313T>C (p.Ile1438Thr)
c.7541T>C (p.Ile2514Thr)
 gnomAD v4
8g.99819471T>GCA371776254VPS13Bc.8756T>G (p.Ile2919Arg)
n.8826T>G
c.*4438T>G (n.*4438T>G)
c.8681T>G (p.Ile2894Arg)
c.8753T>G (p.Ile2918Arg)
c.8678T>G (p.Ile2893Arg)
c.8378T>G (p.Ile2793Arg)
c.5642T>G (p.Ile1881Arg)
c.4535T>G (p.Ile1512Arg)
c.8561T>G (p.Ile2854Arg)
c.4313T>G (p.Ile1438Arg)
c.7541T>G (p.Ile2514Arg)
 gnomAD v4
8g.99819472A>CCA462339472VPS13Bc.8757A>C (p.Ile2919=)
n.8827A>C
c.*4439A>C (n.*4439A>C)
c.8682A>C (p.Ile2894=)
c.8754A>C (p.Ile2918=)
c.8679A>C (p.Ile2893=)
c.8379A>C (p.Ile2793=)
c.5643A>C (p.Ile1881=)
c.4536A>C (p.Ile1512=)
c.8562A>C (p.Ile2854=)
c.4314A>C (p.Ile1438=)
c.7542A>C (p.Ile2514=)
8g.99819472A>GCA371776257VPS13Bc.8757A>G (p.Ile2919Met)
n.8827A>G
c.*4439A>G (n.*4439A>G)
c.8682A>G (p.Ile2894Met)
c.8754A>G (p.Ile2918Met)
c.8679A>G (p.Ile2893Met)
c.8379A>G (p.Ile2793Met)
c.5643A>G (p.Ile1881Met)
c.4536A>G (p.Ile1512Met)
c.8562A>G (p.Ile2854Met)
c.4314A>G (p.Ile1438Met)
c.7542A>G (p.Ile2514Met)
8g.99819472A>TCA462339473VPS13Bc.8757A>T (p.Ile2919=)
n.8827A>T
c.*4439A>T (n.*4439A>T)
c.8682A>T (p.Ile2894=)
c.8754A>T (p.Ile2918=)
c.8679A>T (p.Ile2893=)
c.8379A>T (p.Ile2793=)
c.5643A>T (p.Ile1881=)
c.4536A>T (p.Ile1512=)
c.8562A>T (p.Ile2854=)
c.4314A>T (p.Ile1438=)
c.7542A>T (p.Ile2514=)
8g.99819473G>ACA371776259VPS13Bc.8758G>A (p.Ala2920Thr)
n.8828G>A
c.*4440G>A (n.*4440G>A)
c.8683G>A (p.Ala2895Thr)
c.8755G>A (p.Ala2919Thr)
c.8680G>A (p.Ala2894Thr)
c.8380G>A (p.Ala2794Thr)
c.5644G>A (p.Ala1882Thr)
c.4537G>A (p.Ala1513Thr)
c.8563G>A (p.Ala2855Thr)
c.4315G>A (p.Ala1439Thr)
c.7543G>A (p.Ala2515Thr)
8g.99819473G>CCA371776261VPS13Bc.8758G>C (p.Ala2920Pro)
n.8828G>C
c.*4440G>C (n.*4440G>C)
c.8683G>C (p.Ala2895Pro)
c.8755G>C (p.Ala2919Pro)
c.8680G>C (p.Ala2894Pro)
c.8380G>C (p.Ala2794Pro)
c.5644G>C (p.Ala1882Pro)
c.4537G>C (p.Ala1513Pro)
c.8563G>C (p.Ala2855Pro)
c.4315G>C (p.Ala1439Pro)
c.7543G>C (p.Ala2515Pro)
8g.99819473G>TCA371776263VPS13Bc.8758G>T (p.Ala2920Ser)
n.8828G>T
c.*4440G>T (n.*4440G>T)
c.8683G>T (p.Ala2895Ser)
c.8755G>T (p.Ala2919Ser)
c.8680G>T (p.Ala2894Ser)
c.8380G>T (p.Ala2794Ser)
c.5644G>T (p.Ala1882Ser)
c.4537G>T (p.Ala1513Ser)
c.8563G>T (p.Ala2855Ser)
c.4315G>T (p.Ala1439Ser)
c.7543G>T (p.Ala2515Ser)
 gnomAD v4
8g.99819474C>ACA371776268VPS13Bc.8759C>A (p.Ala2920Asp)
n.8829C>A
c.*4441C>A (n.*4441C>A)
c.8684C>A (p.Ala2895Asp)
c.8756C>A (p.Ala2919Asp)
c.8681C>A (p.Ala2894Asp)
c.8381C>A (p.Ala2794Asp)
c.5645C>A (p.Ala1882Asp)
c.4538C>A (p.Ala1513Asp)
c.8564C>A (p.Ala2855Asp)
c.4316C>A (p.Ala1439Asp)
c.7544C>A (p.Ala2515Asp)
 gnomAD v4
8g.99819474C>GCA371776264VPS13Bc.8759C>G (p.Ala2920Gly)
n.8829C>G
c.*4441C>G (n.*4441C>G)
c.8684C>G (p.Ala2895Gly)
c.8756C>G (p.Ala2919Gly)
c.8681C>G (p.Ala2894Gly)
c.8381C>G (p.Ala2794Gly)
c.5645C>G (p.Ala1882Gly)
c.4538C>G (p.Ala1513Gly)
c.8564C>G (p.Ala2855Gly)
c.4316C>G (p.Ala1439Gly)
c.7544C>G (p.Ala2515Gly)
8g.99819474C>TCA371776266VPS13Bc.8759C>T (p.Ala2920Val)
n.8829C>T
c.*4441C>T (n.*4441C>T)
c.8684C>T (p.Ala2895Val)
c.8756C>T (p.Ala2919Val)
c.8681C>T (p.Ala2894Val)
c.8381C>T (p.Ala2794Val)
c.5645C>T (p.Ala1882Val)
c.4538C>T (p.Ala1513Val)
c.8564C>T (p.Ala2855Val)
c.4316C>T (p.Ala1439Val)
c.7544C>T (p.Ala2515Val)
8g.99819475C>ACA462339474VPS13Bc.8760C>A (p.Ala2920=)
n.8830C>A
c.*4442C>A (n.*4442C>A)
c.8685C>A (p.Ala2895=)
c.8757C>A (p.Ala2919=)
c.8682C>A (p.Ala2894=)
c.8382C>A (p.Ala2794=)
c.5646C>A (p.Ala1882=)
c.4539C>A (p.Ala1513=)
c.8565C>A (p.Ala2855=)
c.4317C>A (p.Ala1439=)
c.7545C>A (p.Ala2515=)
8g.99819475C>GCA462339475VPS13Bc.8760C>G (p.Ala2920=)
n.8830C>G
c.*4442C>G (n.*4442C>G)
c.8685C>G (p.Ala2895=)
c.8757C>G (p.Ala2919=)
c.8682C>G (p.Ala2894=)
c.8382C>G (p.Ala2794=)
c.5646C>G (p.Ala1882=)
c.4539C>G (p.Ala1513=)
c.8565C>G (p.Ala2855=)
c.4317C>G (p.Ala1439=)
c.7545C>G (p.Ala2515=)
8g.99819475C>TCA462339476VPS13Bc.8760C>T (p.Ala2920=)
n.8830C>T
c.*4442C>T (n.*4442C>T)
c.8685C>T (p.Ala2895=)
c.8757C>T (p.Ala2919=)
c.8682C>T (p.Ala2894=)
c.8382C>T (p.Ala2794=)
c.5646C>T (p.Ala1882=)
c.4539C>T (p.Ala1513=)
c.8565C>T (p.Ala2855=)
c.4317C>T (p.Ala1439=)
c.7545C>T (p.Ala2515=)
8g.99819476A>CCA371776269VPS13Bc.8761A>C (p.Thr2921Pro)
n.8831A>C
c.*4443A>C (n.*4443A>C)
c.8686A>C (p.Thr2896Pro)
c.8758A>C (p.Thr2920Pro)
c.8683A>C (p.Thr2895Pro)
c.8383A>C (p.Thr2795Pro)
c.5647A>C (p.Thr1883Pro)
c.4540A>C (p.Thr1514Pro)
c.8566A>C (p.Thr2856Pro)
c.4318A>C (p.Thr1440Pro)
c.7546A>C (p.Thr2516Pro)
8g.99819476A>GCA371776271VPS13Bc.8761A>G (p.Thr2921Ala)
n.8831A>G
c.*4443A>G (n.*4443A>G)
c.8686A>G (p.Thr2896Ala)
c.8758A>G (p.Thr2920Ala)
c.8683A>G (p.Thr2895Ala)
c.8383A>G (p.Thr2795Ala)
c.5647A>G (p.Thr1883Ala)
c.4540A>G (p.Thr1514Ala)
c.8566A>G (p.Thr2856Ala)
c.4318A>G (p.Thr1440Ala)
c.7546A>G (p.Thr2516Ala)
8g.99819476A>TCA371776273VPS13Bc.8761A>T (p.Thr2921Ser)
n.8831A>T
c.*4443A>T (n.*4443A>T)
c.8686A>T (p.Thr2896Ser)
c.8758A>T (p.Thr2920Ser)
c.8683A>T (p.Thr2895Ser)
c.8383A>T (p.Thr2795Ser)
c.5647A>T (p.Thr1883Ser)
c.4540A>T (p.Thr1514Ser)
c.8566A>T (p.Thr2856Ser)
c.4318A>T (p.Thr1440Ser)
c.7546A>T (p.Thr2516Ser)
8g.99819477C>ACA371776275VPS13Bc.8762C>A (p.Thr2921Asn)
n.8832C>A
c.*4444C>A (n.*4444C>A)
c.8687C>A (p.Thr2896Asn)
c.8759C>A (p.Thr2920Asn)
c.8684C>A (p.Thr2895Asn)
c.8384C>A (p.Thr2795Asn)
c.5648C>A (p.Thr1883Asn)
c.4541C>A (p.Thr1514Asn)
c.8567C>A (p.Thr2856Asn)
c.4319C>A (p.Thr1440Asn)
c.7547C>A (p.Thr2516Asn)
8g.99819477C>GCA371776277VPS13Bc.8762C>G (p.Thr2921Ser)
n.8832C>G
c.*4444C>G (n.*4444C>G)
c.8687C>G (p.Thr2896Ser)
c.8759C>G (p.Thr2920Ser)
c.8684C>G (p.Thr2895Ser)
c.8384C>G (p.Thr2795Ser)
c.5648C>G (p.Thr1883Ser)
c.4541C>G (p.Thr1514Ser)
c.8567C>G (p.Thr2856Ser)
c.4319C>G (p.Thr1440Ser)
c.7547C>G (p.Thr2516Ser)
8g.99819477C>TCA182328678VPS13Bc.8762C>T (p.Thr2921Ile)
n.8832C>T
c.*4444C>T (n.*4444C>T)
c.8687C>T (p.Thr2896Ile)
c.8759C>T (p.Thr2920Ile)
c.8684C>T (p.Thr2895Ile)
c.8384C>T (p.Thr2795Ile)
c.5648C>T (p.Thr1883Ile)
c.4541C>T (p.Thr1514Ile)
c.8567C>T (p.Thr2856Ile)
c.4319C>T (p.Thr1440Ile)
c.7547C>T (p.Thr2516Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.99819478T>ACA462339477VPS13Bc.8763T>A (p.Thr2921=)
n.8833T>A
c.*4445T>A (n.*4445T>A)
c.8688T>A (p.Thr2896=)
c.8760T>A (p.Thr2920=)
c.8685T>A (p.Thr2895=)
c.8385T>A (p.Thr2795=)
c.5649T>A (p.Thr1883=)
c.4542T>A (p.Thr1514=)
c.8568T>A (p.Thr2856=)
c.4320T>A (p.Thr1440=)
c.7548T>A (p.Thr2516=)
8g.99819478T>CCA462339478VPS13Bc.8763T>C (p.Thr2921=)
n.8833T>C
c.*4445T>C (n.*4445T>C)
c.8688T>C (p.Thr2896=)
c.8760T>C (p.Thr2920=)
c.8685T>C (p.Thr2895=)
c.8385T>C (p.Thr2795=)
c.5649T>C (p.Thr1883=)
c.4542T>C (p.Thr1514=)
c.8568T>C (p.Thr2856=)
c.4320T>C (p.Thr1440=)
c.7548T>C (p.Thr2516=)
8g.99819478T>GCA462339479VPS13Bc.8763T>G (p.Thr2921=)
n.8833T>G
c.*4445T>G (n.*4445T>G)
c.8688T>G (p.Thr2896=)
c.8760T>G (p.Thr2920=)
c.8685T>G (p.Thr2895=)
c.8385T>G (p.Thr2795=)
c.5649T>G (p.Thr1883=)
c.4542T>G (p.Thr1514=)
c.8568T>G (p.Thr2856=)
c.4320T>G (p.Thr1440=)
c.7548T>G (p.Thr2516=)
8g.99819478dupCA2497231222VPS13Bc.8763dup (p.Lys2922Ter)
n.8833dup
c.*4445dup (n.*4445dup)
c.8688dup (p.Lys2897Ter)
c.8760dup (p.Lys2921Ter)
c.8685dup (p.Lys2896Ter)
c.8385dup (p.Lys2796Ter)
c.5649dup (p.Lys1884Ter)
c.4542dup (p.Lys1515Ter)
c.8568dup (p.Lys2857Ter)
c.4320dup (p.Lys1441Ter)
c.7548dup (p.Lys2517Ter)
 dbSNP
8g.99819479A>CCA371776279VPS13Bc.8764A>C (p.Lys2922Gln)
n.8834A>C
c.*4446A>C (n.*4446A>C)
c.8689A>C (p.Lys2897Gln)
c.8761A>C (p.Lys2921Gln)
c.8686A>C (p.Lys2896Gln)
c.8386A>C (p.Lys2796Gln)
c.5650A>C (p.Lys1884Gln)
c.4543A>C (p.Lys1515Gln)
c.8569A>C (p.Lys2857Gln)
c.4321A>C (p.Lys1441Gln)
c.7549A>C (p.Lys2517Gln)
8g.99819479A>GCA371776281VPS13Bc.8764A>G (p.Lys2922Glu)
n.8834A>G
c.*4446A>G (n.*4446A>G)
c.8689A>G (p.Lys2897Glu)
c.8761A>G (p.Lys2921Glu)
c.8686A>G (p.Lys2896Glu)
c.8386A>G (p.Lys2796Glu)
c.5650A>G (p.Lys1884Glu)
c.4543A>G (p.Lys1515Glu)
c.8569A>G (p.Lys2857Glu)
c.4321A>G (p.Lys1441Glu)
c.7549A>G (p.Lys2517Glu)
8g.99819479A>TCA371776283VPS13Bc.8764A>T (p.Lys2922Ter)
n.8834A>T
c.*4446A>T (n.*4446A>T)
c.8689A>T (p.Lys2897Ter)
c.8761A>T (p.Lys2921Ter)
c.8686A>T (p.Lys2896Ter)
c.8386A>T (p.Lys2796Ter)
c.5650A>T (p.Lys1884Ter)
c.4543A>T (p.Lys1515Ter)
c.8569A>T (p.Lys2857Ter)
c.4321A>T (p.Lys1441Ter)
c.7549A>T (p.Lys2517Ter)
8g.99819480A>CCA371776291VPS13Bc.8765A>C (p.Lys2922Thr)
n.8835A>C
c.*4447A>C (n.*4447A>C)
c.8690A>C (p.Lys2897Thr)
c.8762A>C (p.Lys2921Thr)
c.8687A>C (p.Lys2896Thr)
c.8387A>C (p.Lys2796Thr)
c.5651A>C (p.Lys1884Thr)
c.4544A>C (p.Lys1515Thr)
c.8570A>C (p.Lys2857Thr)
c.4322A>C (p.Lys1441Thr)
c.7550A>C (p.Lys2517Thr)
8g.99819480A>GCA371776293VPS13Bc.8765A>G (p.Lys2922Arg)
n.8835A>G
c.*4447A>G (n.*4447A>G)
c.8690A>G (p.Lys2897Arg)
c.8762A>G (p.Lys2921Arg)
c.8687A>G (p.Lys2896Arg)
c.8387A>G (p.Lys2796Arg)
c.5651A>G (p.Lys1884Arg)
c.4544A>G (p.Lys1515Arg)
c.8570A>G (p.Lys2857Arg)
c.4322A>G (p.Lys1441Arg)
c.7550A>G (p.Lys2517Arg)
8g.99819480A>TCA371776295VPS13Bc.8765A>T (p.Lys2922Met)
n.8835A>T
c.*4447A>T (n.*4447A>T)
c.8690A>T (p.Lys2897Met)
c.8762A>T (p.Lys2921Met)
c.8687A>T (p.Lys2896Met)
c.8387A>T (p.Lys2796Met)
c.5651A>T (p.Lys1884Met)
c.4544A>T (p.Lys1515Met)
c.8570A>T (p.Lys2857Met)
c.4322A>T (p.Lys1441Met)
c.7550A>T (p.Lys2517Met)
 COSMIC COSMIC
8g.99819481G>ACA462339480VPS13Bc.8766G>A (p.Lys2922=)
n.8836G>A
c.*4448G>A (n.*4448G>A)
c.8691G>A (p.Lys2897=)
c.8763G>A (p.Lys2921=)
c.8688G>A (p.Lys2896=)
c.8388G>A (p.Lys2796=)
c.5652G>A (p.Lys1884=)
c.4545G>A (p.Lys1515=)
c.8571G>A (p.Lys2857=)
c.4323G>A (p.Lys1441=)
c.7551G>A (p.Lys2517=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99819481G>CCA371776298VPS13Bc.8766G>C (p.Lys2922Asn)
n.8836G>C
c.*4448G>C (n.*4448G>C)
c.8691G>C (p.Lys2897Asn)
c.8763G>C (p.Lys2921Asn)
c.8688G>C (p.Lys2896Asn)
c.8388G>C (p.Lys2796Asn)
c.5652G>C (p.Lys1884Asn)
c.4545G>C (p.Lys1515Asn)
c.8571G>C (p.Lys2857Asn)
c.4323G>C (p.Lys1441Asn)
c.7551G>C (p.Lys2517Asn)
 gnomAD v4
8g.99819481G>TCA371776299VPS13Bc.8766G>T (p.Lys2922Asn)
n.8836G>T
c.*4448G>T (n.*4448G>T)
c.8691G>T (p.Lys2897Asn)
c.8763G>T (p.Lys2921Asn)
c.8688G>T (p.Lys2896Asn)
c.8388G>T (p.Lys2796Asn)
c.5652G>T (p.Lys1884Asn)
c.4545G>T (p.Lys1515Asn)
c.8571G>T (p.Lys2857Asn)
c.4323G>T (p.Lys1441Asn)
c.7551G>T (p.Lys2517Asn)
8g.99819482G>ACA182328680VPS13Bc.8767G>A (p.Val2923Ile)
n.8837G>A
c.*4449G>A (n.*4449G>A)
c.8692G>A (p.Val2898Ile)
c.8764G>A (p.Val2922Ile)
c.8689G>A (p.Val2897Ile)
c.8389G>A (p.Val2797Ile)
c.5653G>A (p.Val1885Ile)
c.4546G>A (p.Val1516Ile)
c.8572G>A (p.Val2858Ile)
c.4324G>A (p.Val1442Ile)
c.7552G>A (p.Val2518Ile)
 ClinVar dbSNP gnomAD v4
8g.99819482G>CCA371776303VPS13Bc.8767G>C (p.Val2923Leu)
n.8837G>C
c.*4449G>C (n.*4449G>C)
c.8692G>C (p.Val2898Leu)
c.8764G>C (p.Val2922Leu)
c.8689G>C (p.Val2897Leu)
c.8389G>C (p.Val2797Leu)
c.5653G>C (p.Val1885Leu)
c.4546G>C (p.Val1516Leu)
c.8572G>C (p.Val2858Leu)
c.4324G>C (p.Val1442Leu)
c.7552G>C (p.Val2518Leu)
8g.99819482G>TCA371776304VPS13Bc.8767G>T (p.Val2923Leu)
n.8837G>T
c.*4449G>T (n.*4449G>T)
c.8692G>T (p.Val2898Leu)
c.8764G>T (p.Val2922Leu)
c.8689G>T (p.Val2897Leu)
c.8389G>T (p.Val2797Leu)
c.5653G>T (p.Val1885Leu)
c.4546G>T (p.Val1516Leu)
c.8572G>T (p.Val2858Leu)
c.4324G>T (p.Val1442Leu)
c.7552G>T (p.Val2518Leu)
8g.99819483T>ACA371776307VPS13Bc.8768T>A (p.Val2923Glu)
n.8838T>A
c.*4450T>A (n.*4450T>A)
c.8693T>A (p.Val2898Glu)
c.8765T>A (p.Val2922Glu)
c.8690T>A (p.Val2897Glu)
c.8390T>A (p.Val2797Glu)
c.5654T>A (p.Val1885Glu)
c.4547T>A (p.Val1516Glu)
c.8573T>A (p.Val2858Glu)
c.4325T>A (p.Val1442Glu)
c.7553T>A (p.Val2518Glu)
8g.99819483T>CCA371776309VPS13Bc.8768T>C (p.Val2923Ala)
n.8838T>C
c.*4450T>C (n.*4450T>C)
c.8693T>C (p.Val2898Ala)
c.8765T>C (p.Val2922Ala)
c.8690T>C (p.Val2897Ala)
c.8390T>C (p.Val2797Ala)
c.5654T>C (p.Val1885Ala)
c.4547T>C (p.Val1516Ala)
c.8573T>C (p.Val2858Ala)
c.4325T>C (p.Val1442Ala)
c.7553T>C (p.Val2518Ala)
8g.99819483T>GCA371776310VPS13Bc.8768T>G (p.Val2923Gly)
n.8838T>G
c.*4450T>G (n.*4450T>G)
c.8693T>G (p.Val2898Gly)
c.8765T>G (p.Val2922Gly)
c.8690T>G (p.Val2897Gly)
c.8390T>G (p.Val2797Gly)
c.5654T>G (p.Val1885Gly)
c.4547T>G (p.Val1516Gly)
c.8573T>G (p.Val2858Gly)
c.4325T>G (p.Val1442Gly)
c.7553T>G (p.Val2518Gly)
8g.99819484A>CCA462339481VPS13Bc.8769A>C (p.Val2923=)
n.8839A>C
c.*4451A>C (n.*4451A>C)
c.8694A>C (p.Val2898=)
c.8766A>C (p.Val2922=)
c.8691A>C (p.Val2897=)
c.8391A>C (p.Val2797=)
c.5655A>C (p.Val1885=)
c.4548A>C (p.Val1516=)
c.8574A>C (p.Val2858=)
c.4326A>C (p.Val1442=)
c.7554A>C (p.Val2518=)
8g.99819484A>GCA462339484VPS13Bc.8769A>G (p.Val2923=)
n.8839A>G
c.*4451A>G (n.*4451A>G)
c.8694A>G (p.Val2898=)
c.8766A>G (p.Val2922=)
c.8691A>G (p.Val2897=)
c.8391A>G (p.Val2797=)
c.5655A>G (p.Val1885=)
c.4548A>G (p.Val1516=)
c.8574A>G (p.Val2858=)
c.4326A>G (p.Val1442=)
c.7554A>G (p.Val2518=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819484A>TCA462339482VPS13Bc.8769A>T (p.Val2923=)
n.8839A>T
c.*4451A>T (n.*4451A>T)
c.8694A>T (p.Val2898=)
c.8766A>T (p.Val2922=)
c.8691A>T (p.Val2897=)
c.8391A>T (p.Val2797=)
c.5655A>T (p.Val1885=)
c.4548A>T (p.Val1516=)
c.8574A>T (p.Val2858=)
c.4326A>T (p.Val1442=)
c.7554A>T (p.Val2518=)
 ClinVar
8g.99819485C>ACA371776312VPS13Bc.8770C>A (p.His2924Asn)
n.8840C>A
c.*4452C>A (n.*4452C>A)
c.8695C>A (p.His2899Asn)
c.8767C>A (p.His2923Asn)
c.8692C>A (p.His2898Asn)
c.8392C>A (p.His2798Asn)
c.5656C>A (p.His1886Asn)
c.4549C>A (p.His1517Asn)
c.8575C>A (p.His2859Asn)
c.4327C>A (p.His1443Asn)
c.7555C>A (p.His2519Asn)
8g.99819485C>GCA371776313VPS13Bc.8770C>G (p.His2924Asp)
n.8840C>G
c.*4452C>G (n.*4452C>G)
c.8695C>G (p.His2899Asp)
c.8767C>G (p.His2923Asp)
c.8692C>G (p.His2898Asp)
c.8392C>G (p.His2798Asp)
c.5656C>G (p.His1886Asp)
c.4549C>G (p.His1517Asp)
c.8575C>G (p.His2859Asp)
c.4327C>G (p.His1443Asp)
c.7555C>G (p.His2519Asp)
8g.99819485C>TCA182328681VPS13Bc.8770C>T (p.His2924Tyr)
n.8840C>T
c.*4452C>T (n.*4452C>T)
c.8695C>T (p.His2899Tyr)
c.8767C>T (p.His2923Tyr)
c.8692C>T (p.His2898Tyr)
c.8392C>T (p.His2798Tyr)
c.5656C>T (p.His1886Tyr)
c.4549C>T (p.His1517Tyr)
c.8575C>T (p.His2859Tyr)
c.4327C>T (p.His1443Tyr)
c.7555C>T (p.His2519Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819486A>CCA371776316VPS13Bc.8771A>C (p.His2924Pro)
n.8841A>C
c.*4453A>C (n.*4453A>C)
c.8696A>C (p.His2899Pro)
c.8768A>C (p.His2923Pro)
c.8693A>C (p.His2898Pro)
c.8393A>C (p.His2798Pro)
c.5657A>C (p.His1886Pro)
c.4550A>C (p.His1517Pro)
c.8576A>C (p.His2859Pro)
c.4328A>C (p.His1443Pro)
c.7556A>C (p.His2519Pro)
8g.99819486A>GCA371776318VPS13Bc.8771A>G (p.His2924Arg)
n.8841A>G
c.*4453A>G (n.*4453A>G)
c.8696A>G (p.His2899Arg)
c.8768A>G (p.His2923Arg)
c.8693A>G (p.His2898Arg)
c.8393A>G (p.His2798Arg)
c.5657A>G (p.His1886Arg)
c.4550A>G (p.His1517Arg)
c.8576A>G (p.His2859Arg)
c.4328A>G (p.His1443Arg)
c.7556A>G (p.His2519Arg)
8g.99819486A>TCA371776320VPS13Bc.8771A>T (p.His2924Leu)
n.8841A>T
c.*4453A>T (n.*4453A>T)
c.8696A>T (p.His2899Leu)
c.8768A>T (p.His2923Leu)
c.8693A>T (p.His2898Leu)
c.8393A>T (p.His2798Leu)
c.5657A>T (p.His1886Leu)
c.4550A>T (p.His1517Leu)
c.8576A>T (p.His2859Leu)
c.4328A>T (p.His1443Leu)
c.7556A>T (p.His2519Leu)
8g.99819487C>ACA371776325VPS13Bc.8772C>A (p.His2924Gln)
n.8842C>A
c.*4454C>A (n.*4454C>A)
c.8697C>A (p.His2899Gln)
c.8769C>A (p.His2923Gln)
c.8694C>A (p.His2898Gln)
c.8394C>A (p.His2798Gln)
c.5658C>A (p.His1886Gln)
c.4551C>A (p.His1517Gln)
c.8577C>A (p.His2859Gln)
c.4329C>A (p.His1443Gln)
c.7557C>A (p.His2519Gln)
 ClinVar dbSNP
8g.99819487C>GCA371776323VPS13Bc.8772C>G (p.His2924Gln)
n.8842C>G
c.*4454C>G (n.*4454C>G)
c.8697C>G (p.His2899Gln)
c.8769C>G (p.His2923Gln)
c.8694C>G (p.His2898Gln)
c.8394C>G (p.His2798Gln)
c.5658C>G (p.His1886Gln)
c.4551C>G (p.His1517Gln)
c.8577C>G (p.His2859Gln)
c.4329C>G (p.His1443Gln)
c.7557C>G (p.His2519Gln)
8g.99819487C>TCA4824524VPS13Bc.8772C>T (p.His2924=)
n.8842C>T
c.*4454C>T (n.*4454C>T)
c.8697C>T (p.His2899=)
c.8769C>T (p.His2923=)
c.8694C>T (p.His2898=)
c.8394C>T (p.His2798=)
c.5658C>T (p.His1886=)
c.4551C>T (p.His1517=)
c.8577C>T (p.His2859=)
c.4329C>T (p.His1443=)
c.7557C>T (p.His2519=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819488C>ACA371776326VPS13Bc.8773C>A (p.Pro2925Thr)
n.8843C>A
c.*4455C>A (n.*4455C>A)
c.8698C>A (p.Pro2900Thr)
c.8770C>A (p.Pro2924Thr)
c.8695C>A (p.Pro2899Thr)
c.8395C>A (p.Pro2799Thr)
c.5659C>A (p.Pro1887Thr)
c.4552C>A (p.Pro1518Thr)
c.8578C>A (p.Pro2860Thr)
c.4330C>A (p.Pro1444Thr)
c.7558C>A (p.Pro2520Thr)
8g.99819488C>GCA371776328VPS13Bc.8773C>G (p.Pro2925Ala)
n.8843C>G
c.*4455C>G (n.*4455C>G)
c.8698C>G (p.Pro2900Ala)
c.8770C>G (p.Pro2924Ala)
c.8695C>G (p.Pro2899Ala)
c.8395C>G (p.Pro2799Ala)
c.5659C>G (p.Pro1887Ala)
c.4552C>G (p.Pro1518Ala)
c.8578C>G (p.Pro2860Ala)
c.4330C>G (p.Pro1444Ala)
c.7558C>G (p.Pro2520Ala)
8g.99819488C>TCA371776330VPS13Bc.8773C>T (p.Pro2925Ser)
n.8843C>T
c.*4455C>T (n.*4455C>T)
c.8698C>T (p.Pro2900Ser)
c.8770C>T (p.Pro2924Ser)
c.8695C>T (p.Pro2899Ser)
c.8395C>T (p.Pro2799Ser)
c.5659C>T (p.Pro1887Ser)
c.4552C>T (p.Pro1518Ser)
c.8578C>T (p.Pro2860Ser)
c.4330C>T (p.Pro1444Ser)
c.7558C>T (p.Pro2520Ser)
8g.99819489C>ACA371776332VPS13Bc.8774C>A (p.Pro2925His)
n.8844C>A
c.*4456C>A (n.*4456C>A)
c.8699C>A (p.Pro2900His)
c.8771C>A (p.Pro2924His)
c.8696C>A (p.Pro2899His)
c.8396C>A (p.Pro2799His)
c.5660C>A (p.Pro1887His)
c.4553C>A (p.Pro1518His)
c.8579C>A (p.Pro2860His)
c.4331C>A (p.Pro1444His)
c.7559C>A (p.Pro2520His)
8g.99819489C>GCA371776334VPS13Bc.8774C>G (p.Pro2925Arg)
n.8844C>G
c.*4456C>G (n.*4456C>G)
c.8699C>G (p.Pro2900Arg)
c.8771C>G (p.Pro2924Arg)
c.8696C>G (p.Pro2899Arg)
c.8396C>G (p.Pro2799Arg)
c.5660C>G (p.Pro1887Arg)
c.4553C>G (p.Pro1518Arg)
c.8579C>G (p.Pro2860Arg)
c.4331C>G (p.Pro1444Arg)
c.7559C>G (p.Pro2520Arg)
8g.99819489C>TCA371776336VPS13Bc.8774C>T (p.Pro2925Leu)
n.8844C>T
c.*4456C>T (n.*4456C>T)
c.8699C>T (p.Pro2900Leu)
c.8771C>T (p.Pro2924Leu)
c.8696C>T (p.Pro2899Leu)
c.8396C>T (p.Pro2799Leu)
c.5660C>T (p.Pro1887Leu)
c.4553C>T (p.Pro1518Leu)
c.8579C>T (p.Pro2860Leu)
c.4331C>T (p.Pro1444Leu)
c.7559C>T (p.Pro2520Leu)
8g.99819490T>ACA462339485VPS13Bc.8775T>A (p.Pro2925=)
n.8845T>A
c.*4457T>A (n.*4457T>A)
c.8700T>A (p.Pro2900=)
c.8772T>A (p.Pro2924=)
c.8697T>A (p.Pro2899=)
c.8397T>A (p.Pro2799=)
c.5661T>A (p.Pro1887=)
c.4554T>A (p.Pro1518=)
c.8580T>A (p.Pro2860=)
c.4332T>A (p.Pro1444=)
c.7560T>A (p.Pro2520=)
8g.99819490T>CCA462339486VPS13Bc.8775T>C (p.Pro2925=)
n.8845T>C
c.*4457T>C (n.*4457T>C)
c.8700T>C (p.Pro2900=)
c.8772T>C (p.Pro2924=)
c.8697T>C (p.Pro2899=)
c.8397T>C (p.Pro2799=)
c.5661T>C (p.Pro1887=)
c.4554T>C (p.Pro1518=)
c.8580T>C (p.Pro2860=)
c.4332T>C (p.Pro1444=)
c.7560T>C (p.Pro2520=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819490T>GCA462339487VPS13Bc.8775T>G (p.Pro2925=)
n.8845T>G
c.*4457T>G (n.*4457T>G)
c.8700T>G (p.Pro2900=)
c.8772T>G (p.Pro2924=)
c.8697T>G (p.Pro2899=)
c.8397T>G (p.Pro2799=)
c.5661T>G (p.Pro1887=)
c.4554T>G (p.Pro1518=)
c.8580T>G (p.Pro2860=)
c.4332T>G (p.Pro1444=)
c.7560T>G (p.Pro2520=)
8g.99819491G>ACA371776338VPS13Bc.8776G>A (p.Gly2926Arg)
n.8846G>A
c.*4458G>A (n.*4458G>A)
c.8701G>A (p.Gly2901Arg)
c.8773G>A (p.Gly2925Arg)
c.8698G>A (p.Gly2900Arg)
c.8398G>A (p.Gly2800Arg)
c.5662G>A (p.Gly1888Arg)
c.4555G>A (p.Gly1519Arg)
c.8581G>A (p.Gly2861Arg)
c.4333G>A (p.Gly1445Arg)
c.7561G>A (p.Gly2521Arg)
 gnomAD v4
8g.99819491G>CCA371776340VPS13Bc.8776G>C (p.Gly2926Arg)
n.8846G>C
c.*4458G>C (n.*4458G>C)
c.8701G>C (p.Gly2901Arg)
c.8773G>C (p.Gly2925Arg)
c.8698G>C (p.Gly2900Arg)
c.8398G>C (p.Gly2800Arg)
c.5662G>C (p.Gly1888Arg)
c.4555G>C (p.Gly1519Arg)
c.8581G>C (p.Gly2861Arg)
c.4333G>C (p.Gly1445Arg)
c.7561G>C (p.Gly2521Arg)
 gnomAD v4
8g.99819491G>TCA371776342VPS13Bc.8776G>T (p.Gly2926Ter)
n.8846G>T
c.*4458G>T (n.*4458G>T)
c.8701G>T (p.Gly2901Ter)
c.8773G>T (p.Gly2925Ter)
c.8698G>T (p.Gly2900Ter)
c.8398G>T (p.Gly2800Ter)
c.5662G>T (p.Gly1888Ter)
c.4555G>T (p.Gly1519Ter)
c.8581G>T (p.Gly2861Ter)
c.4333G>T (p.Gly1445Ter)
c.7561G>T (p.Gly2521Ter)
8g.99819492G>ACA371776344VPS13Bc.8777G>A (p.Gly2926Glu)
n.8847G>A
c.*4459G>A (n.*4459G>A)
c.8702G>A (p.Gly2901Glu)
c.8774G>A (p.Gly2925Glu)
c.8699G>A (p.Gly2900Glu)
c.8399G>A (p.Gly2800Glu)
c.5663G>A (p.Gly1888Glu)
c.4556G>A (p.Gly1519Glu)
c.8582G>A (p.Gly2861Glu)
c.4334G>A (p.Gly1445Glu)
c.7562G>A (p.Gly2521Glu)
8g.99819492G>CCA371776346VPS13Bc.8777G>C (p.Gly2926Ala)
n.8847G>C
c.*4459G>C (n.*4459G>C)
c.8702G>C (p.Gly2901Ala)
c.8774G>C (p.Gly2925Ala)
c.8699G>C (p.Gly2900Ala)
c.8399G>C (p.Gly2800Ala)
c.5663G>C (p.Gly1888Ala)
c.4556G>C (p.Gly1519Ala)
c.8582G>C (p.Gly2861Ala)
c.4334G>C (p.Gly1445Ala)
c.7562G>C (p.Gly2521Ala)
8g.99819492G>TCA371776348VPS13Bc.8777G>T (p.Gly2926Val)
n.8847G>T
c.*4459G>T (n.*4459G>T)
c.8702G>T (p.Gly2901Val)
c.8774G>T (p.Gly2925Val)
c.8699G>T (p.Gly2900Val)
c.8399G>T (p.Gly2800Val)
c.5663G>T (p.Gly1888Val)
c.4556G>T (p.Gly1519Val)
c.8582G>T (p.Gly2861Val)
c.4334G>T (p.Gly1445Val)
c.7562G>T (p.Gly2521Val)
 COSMIC COSMIC
8g.99819493A>CCA462339489VPS13Bc.8778A>C (p.Gly2926=)
n.8848A>C
c.*4460A>C (n.*4460A>C)
c.8703A>C (p.Gly2901=)
c.8775A>C (p.Gly2925=)
c.8700A>C (p.Gly2900=)
c.8400A>C (p.Gly2800=)
c.5664A>C (p.Gly1888=)
c.4557A>C (p.Gly1519=)
c.8583A>C (p.Gly2861=)
c.4335A>C (p.Gly1445=)
c.7563A>C (p.Gly2521=)
8g.99819493A>GCA462339490VPS13Bc.8778A>G (p.Gly2926=)
n.8848A>G
c.*4460A>G (n.*4460A>G)
c.8703A>G (p.Gly2901=)
c.8775A>G (p.Gly2925=)
c.8700A>G (p.Gly2900=)
c.8400A>G (p.Gly2800=)
c.5664A>G (p.Gly1888=)
c.4557A>G (p.Gly1519=)
c.8583A>G (p.Gly2861=)
c.4335A>G (p.Gly1445=)
c.7563A>G (p.Gly2521=)
 ClinVar dbSNP gnomAD v4
8g.99819493A>TCA462339491VPS13Bc.8778A>T (p.Gly2926=)
n.8848A>T
c.*4460A>T (n.*4460A>T)
c.8703A>T (p.Gly2901=)
c.8775A>T (p.Gly2925=)
c.8700A>T (p.Gly2900=)
c.8400A>T (p.Gly2800=)
c.5664A>T (p.Gly1888=)
c.4557A>T (p.Gly1519=)
c.8583A>T (p.Gly2861=)
c.4335A>T (p.Gly1445=)
c.7563A>T (p.Gly2521=)
8g.99819494G>ACA371776353VPS13Bc.8779G>A (p.Gly2927Ser)
n.8849G>A
c.*4461G>A (n.*4461G>A)
c.8704G>A (p.Gly2902Ser)
c.8776G>A (p.Gly2926Ser)
c.8701G>A (p.Gly2901Ser)
c.8401G>A (p.Gly2801Ser)
c.5665G>A (p.Gly1889Ser)
c.4558G>A (p.Gly1520Ser)
c.8584G>A (p.Gly2862Ser)
c.4336G>A (p.Gly1446Ser)
c.7564G>A (p.Gly2522Ser)
8g.99819494G>CCA371776351VPS13Bc.8779G>C (p.Gly2927Arg)
n.8849G>C
c.*4461G>C (n.*4461G>C)
c.8704G>C (p.Gly2902Arg)
c.8776G>C (p.Gly2926Arg)
c.8701G>C (p.Gly2901Arg)
c.8401G>C (p.Gly2801Arg)
c.5665G>C (p.Gly1889Arg)
c.4558G>C (p.Gly1520Arg)
c.8584G>C (p.Gly2862Arg)
c.4336G>C (p.Gly1446Arg)
c.7564G>C (p.Gly2522Arg)
8g.99819494G>TCA371776350VPS13Bc.8779G>T (p.Gly2927Cys)
n.8849G>T
c.*4461G>T (n.*4461G>T)
c.8704G>T (p.Gly2902Cys)
c.8776G>T (p.Gly2926Cys)
c.8701G>T (p.Gly2901Cys)
c.8401G>T (p.Gly2801Cys)
c.5665G>T (p.Gly1889Cys)
c.4558G>T (p.Gly1520Cys)
c.8584G>T (p.Gly2862Cys)
c.4336G>T (p.Gly1446Cys)
c.7564G>T (p.Gly2522Cys)
8g.99819495G>ACA4824525VPS13Bc.8780G>A (p.Gly2927Asp)
n.8850G>A
c.*4462G>A (n.*4462G>A)
c.8705G>A (p.Gly2902Asp)
c.8777G>A (p.Gly2926Asp)
c.8702G>A (p.Gly2901Asp)
c.8402G>A (p.Gly2801Asp)
c.5666G>A (p.Gly1889Asp)
c.4559G>A (p.Gly1520Asp)
c.8585G>A (p.Gly2862Asp)
c.4337G>A (p.Gly1446Asp)
c.7565G>A (p.Gly2522Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819495G>CCA371776358VPS13Bc.8780G>C (p.Gly2927Ala)
n.8850G>C
c.*4462G>C (n.*4462G>C)
c.8705G>C (p.Gly2902Ala)
c.8777G>C (p.Gly2926Ala)
c.8702G>C (p.Gly2901Ala)
c.8402G>C (p.Gly2801Ala)
c.5666G>C (p.Gly1889Ala)
c.4559G>C (p.Gly1520Ala)
c.8585G>C (p.Gly2862Ala)
c.4337G>C (p.Gly1446Ala)
c.7565G>C (p.Gly2522Ala)
8g.99819495G>TCA371776357VPS13Bc.8780G>T (p.Gly2927Val)
n.8850G>T
c.*4462G>T (n.*4462G>T)
c.8705G>T (p.Gly2902Val)
c.8777G>T (p.Gly2926Val)
c.8702G>T (p.Gly2901Val)
c.8402G>T (p.Gly2801Val)
c.5666G>T (p.Gly1889Val)
c.4559G>T (p.Gly1520Val)
c.8585G>T (p.Gly2862Val)
c.4337G>T (p.Gly1446Val)
c.7565G>T (p.Gly2522Val)
 dbSNP gnomAD v3 gnomAD v4
8g.99819496C>ACA462339492VPS13Bc.8781C>A (p.Gly2927=)
n.8851C>A
c.*4463C>A (n.*4463C>A)
c.8706C>A (p.Gly2902=)
c.8778C>A (p.Gly2926=)
c.8703C>A (p.Gly2901=)
c.8403C>A (p.Gly2801=)
c.5667C>A (p.Gly1889=)
c.4560C>A (p.Gly1520=)
c.8586C>A (p.Gly2862=)
c.4338C>A (p.Gly1446=)
c.7566C>A (p.Gly2522=)
8g.99819496C>GCA462339493VPS13Bc.8781C>G (p.Gly2927=)
n.8851C>G
c.*4463C>G (n.*4463C>G)
c.8706C>G (p.Gly2902=)
c.8778C>G (p.Gly2926=)
c.8703C>G (p.Gly2901=)
c.8403C>G (p.Gly2801=)
c.5667C>G (p.Gly1889=)
c.4560C>G (p.Gly1520=)
c.8586C>G (p.Gly2862=)
c.4338C>G (p.Gly1446=)
c.7566C>G (p.Gly2522=)
8g.99819496C>TCA462339494VPS13Bc.8781C>T (p.Gly2927=)
n.8851C>T
c.*4463C>T (n.*4463C>T)
c.8706C>T (p.Gly2902=)
c.8778C>T (p.Gly2926=)
c.8703C>T (p.Gly2901=)
c.8403C>T (p.Gly2801=)
c.5667C>T (p.Gly1889=)
c.4560C>T (p.Gly1520=)
c.8586C>T (p.Gly2862=)
c.4338C>T (p.Gly1446=)
c.7566C>T (p.Gly2522=)
 ClinVar dbSNP
8g.99819497A>CCA371776360VPS13Bc.8782A>C (p.Thr2928Pro)
n.8852A>C
c.*4464A>C (n.*4464A>C)
c.8707A>C (p.Thr2903Pro)
c.8779A>C (p.Thr2927Pro)
c.8704A>C (p.Thr2902Pro)
c.8404A>C (p.Thr2802Pro)
c.5668A>C (p.Thr1890Pro)
c.4561A>C (p.Thr1521Pro)
c.8587A>C (p.Thr2863Pro)
c.4339A>C (p.Thr1447Pro)
c.7567A>C (p.Thr2523Pro)
8g.99819497A>GCA371776362VPS13Bc.8782A>G (p.Thr2928Ala)
n.8852A>G
c.*4464A>G (n.*4464A>G)
c.8707A>G (p.Thr2903Ala)
c.8779A>G (p.Thr2927Ala)
c.8704A>G (p.Thr2902Ala)
c.8404A>G (p.Thr2802Ala)
c.5668A>G (p.Thr1890Ala)
c.4561A>G (p.Thr1521Ala)
c.8587A>G (p.Thr2863Ala)
c.4339A>G (p.Thr1447Ala)
c.7567A>G (p.Thr2523Ala)
8g.99819497A>TCA371776363VPS13Bc.8782A>T (p.Thr2928Ser)
n.8852A>T
c.*4464A>T (n.*4464A>T)
c.8707A>T (p.Thr2903Ser)
c.8779A>T (p.Thr2927Ser)
c.8704A>T (p.Thr2902Ser)
c.8404A>T (p.Thr2802Ser)
c.5668A>T (p.Thr1890Ser)
c.4561A>T (p.Thr1521Ser)
c.8587A>T (p.Thr2863Ser)
c.4339A>T (p.Thr1447Ser)
c.7567A>T (p.Thr2523Ser)
8g.99819498C>ACA371776365VPS13Bc.8783C>A (p.Thr2928Lys)
n.8853C>A
c.*4465C>A (n.*4465C>A)
c.8708C>A (p.Thr2903Lys)
c.8780C>A (p.Thr2927Lys)
c.8705C>A (p.Thr2902Lys)
c.8405C>A (p.Thr2802Lys)
c.5669C>A (p.Thr1890Lys)
c.4562C>A (p.Thr1521Lys)
c.8588C>A (p.Thr2863Lys)
c.4340C>A (p.Thr1447Lys)
c.7568C>A (p.Thr2523Lys)
8g.99819498C>GCA182328700VPS13Bc.8783C>G (p.Thr2928Arg)
n.8853C>G
c.*4465C>G (n.*4465C>G)
c.8708C>G (p.Thr2903Arg)
c.8780C>G (p.Thr2927Arg)
c.8705C>G (p.Thr2902Arg)
c.8405C>G (p.Thr2802Arg)
c.5669C>G (p.Thr1890Arg)
c.4562C>G (p.Thr1521Arg)
c.8588C>G (p.Thr2863Arg)
c.4340C>G (p.Thr1447Arg)
c.7568C>G (p.Thr2523Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.99819498C>TCA371776368VPS13Bc.8783C>T (p.Thr2928Ile)
n.8853C>T
c.*4465C>T (n.*4465C>T)
c.8708C>T (p.Thr2903Ile)
c.8780C>T (p.Thr2927Ile)
c.8705C>T (p.Thr2902Ile)
c.8405C>T (p.Thr2802Ile)
c.5669C>T (p.Thr1890Ile)
c.4562C>T (p.Thr1521Ile)
c.8588C>T (p.Thr2863Ile)
c.4340C>T (p.Thr1447Ile)
c.7568C>T (p.Thr2523Ile)
 dbSNP
8g.99819499A>CCA462339495VPS13Bc.8784A>C (p.Thr2928=)
n.8854A>C
c.*4466A>C (n.*4466A>C)
c.8709A>C (p.Thr2903=)
c.8781A>C (p.Thr2927=)
c.8706A>C (p.Thr2902=)
c.8406A>C (p.Thr2802=)
c.5670A>C (p.Thr1890=)
c.4563A>C (p.Thr1521=)
c.8589A>C (p.Thr2863=)
c.4341A>C (p.Thr1447=)
c.7569A>C (p.Thr2523=)
8g.99819499A>GCA4824526VPS13Bc.8784A>G (p.Thr2928=)
n.8854A>G
c.*4466A>G (n.*4466A>G)
c.8709A>G (p.Thr2903=)
c.8781A>G (p.Thr2927=)
c.8706A>G (p.Thr2902=)
c.8406A>G (p.Thr2802=)
c.5670A>G (p.Thr1890=)
c.4563A>G (p.Thr1521=)
c.8589A>G (p.Thr2863=)
c.4341A>G (p.Thr1447=)
c.7569A>G (p.Thr2523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819499A>TCA462339496VPS13Bc.8784A>T (p.Thr2928=)
n.8854A>T
c.*4466A>T (n.*4466A>T)
c.8709A>T (p.Thr2903=)
c.8781A>T (p.Thr2927=)
c.8706A>T (p.Thr2902=)
c.8406A>T (p.Thr2802=)
c.5670A>T (p.Thr1890=)
c.4563A>T (p.Thr1521=)
c.8589A>T (p.Thr2863=)
c.4341A>T (p.Thr1447=)
c.7569A>T (p.Thr2523=)
 ClinVar gnomAD v4
8g.99819500delCA2580079246VPS13Bc.8785del (p.Val2929LeufsTer?)
n.8855del
c.*4467del (n.*4467del)
c.8710del (p.Val2904LeufsTer?)
c.8782del (p.Val2928LeufsTer?)
c.8707del (p.Val2903LeufsTer?)
c.8407del (p.Val2803LeufsTer?)
c.5671del (p.Val1891LeufsTer?)
c.4564del (p.Val1522LeufsTer?)
c.8590del (p.Val2864LeufsTer?)
c.4342del (p.Val1448LeufsTer?)
c.7570del (p.Val2524LeufsTer?)
 ClinVar
8g.99819500G>ACA4824527VPS13Bc.8785G>A (p.Val2929Ile)
n.8855G>A
c.*4467G>A (n.*4467G>A)
c.8710G>A (p.Val2904Ile)
c.8782G>A (p.Val2928Ile)
c.8707G>A (p.Val2903Ile)
c.8407G>A (p.Val2803Ile)
c.5671G>A (p.Val1891Ile)
c.4564G>A (p.Val1522Ile)
c.8590G>A (p.Val2864Ile)
c.4342G>A (p.Val1448Ile)
c.7570G>A (p.Val2524Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819500G>CCA371776372VPS13Bc.8785G>C (p.Val2929Leu)
n.8855G>C
c.*4467G>C (n.*4467G>C)
c.8710G>C (p.Val2904Leu)
c.8782G>C (p.Val2928Leu)
c.8707G>C (p.Val2903Leu)
c.8407G>C (p.Val2803Leu)
c.5671G>C (p.Val1891Leu)
c.4564G>C (p.Val1522Leu)
c.8590G>C (p.Val2864Leu)
c.4342G>C (p.Val1448Leu)
c.7570G>C (p.Val2524Leu)
8g.99819500G>TCA371776374VPS13Bc.8785G>T (p.Val2929Phe)
n.8855G>T
c.*4467G>T (n.*4467G>T)
c.8710G>T (p.Val2904Phe)
c.8782G>T (p.Val2928Phe)
c.8707G>T (p.Val2903Phe)
c.8407G>T (p.Val2803Phe)
c.5671G>T (p.Val1891Phe)
c.4564G>T (p.Val1522Phe)
c.8590G>T (p.Val2864Phe)
c.4342G>T (p.Val1448Phe)
c.7570G>T (p.Val2524Phe)
8g.99819501T>ACA4824528VPS13Bc.8786T>A (p.Val2929Asp)
n.8856T>A
c.*4468T>A (n.*4468T>A)
c.8711T>A (p.Val2904Asp)
c.8783T>A (p.Val2928Asp)
c.8708T>A (p.Val2903Asp)
c.8408T>A (p.Val2803Asp)
c.5672T>A (p.Val1891Asp)
c.4565T>A (p.Val1522Asp)
c.8591T>A (p.Val2864Asp)
c.4343T>A (p.Val1448Asp)
c.7571T>A (p.Val2524Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819501T>CCA371776376VPS13Bc.8786T>C (p.Val2929Ala)
n.8856T>C
c.*4468T>C (n.*4468T>C)
c.8711T>C (p.Val2904Ala)
c.8783T>C (p.Val2928Ala)
c.8708T>C (p.Val2903Ala)
c.8408T>C (p.Val2803Ala)
c.5672T>C (p.Val1891Ala)
c.4565T>C (p.Val1522Ala)
c.8591T>C (p.Val2864Ala)
c.4343T>C (p.Val1448Ala)
c.7571T>C (p.Val2524Ala)
8g.99819501T>GCA371776377VPS13Bc.8786T>G (p.Val2929Gly)
n.8856T>G
c.*4468T>G (n.*4468T>G)
c.8711T>G (p.Val2904Gly)
c.8783T>G (p.Val2928Gly)
c.8708T>G (p.Val2903Gly)
c.8408T>G (p.Val2803Gly)
c.5672T>G (p.Val1891Gly)
c.4565T>G (p.Val1522Gly)
c.8591T>G (p.Val2864Gly)
c.4343T>G (p.Val1448Gly)
c.7571T>G (p.Val2524Gly)
8g.99819502T>ACA462339497VPS13Bc.8787T>A (p.Val2929=)
n.8857T>A
c.*4469T>A (n.*4469T>A)
c.8712T>A (p.Val2904=)
c.8784T>A (p.Val2928=)
c.8709T>A (p.Val2903=)
c.8409T>A (p.Val2803=)
c.5673T>A (p.Val1891=)
c.4566T>A (p.Val1522=)
c.8592T>A (p.Val2864=)
c.4344T>A (p.Val1448=)
c.7572T>A (p.Val2524=)
8g.99819502T>CCA462339498VPS13Bc.8787T>C (p.Val2929=)
n.8857T>C
c.*4469T>C (n.*4469T>C)
c.8712T>C (p.Val2904=)
c.8784T>C (p.Val2928=)
c.8709T>C (p.Val2903=)
c.8409T>C (p.Val2803=)
c.5673T>C (p.Val1891=)
c.4566T>C (p.Val1522=)
c.8592T>C (p.Val2864=)
c.4344T>C (p.Val1448=)
c.7572T>C (p.Val2524=)
8g.99819502T>GCA462339499VPS13Bc.8787T>G (p.Val2929=)
n.8857T>G
c.*4469T>G (n.*4469T>G)
c.8712T>G (p.Val2904=)
c.8784T>G (p.Val2928=)
c.8709T>G (p.Val2903=)
c.8409T>G (p.Val2803=)
c.5673T>G (p.Val1891=)
c.4566T>G (p.Val1522=)
c.8592T>G (p.Val2864=)
c.4344T>G (p.Val1448=)
c.7572T>G (p.Val2524=)
8g.99819503A>CCA4824529VPS13Bc.8788A>C (p.Asn2930His)
n.8858A>C
c.*4470A>C (n.*4470A>C)
c.8713A>C (p.Asn2905His)
c.8785A>C (p.Asn2929His)
c.8710A>C (p.Asn2904His)
c.8410A>C (p.Asn2804His)
c.5674A>C (p.Asn1892His)
c.4567A>C (p.Asn1523His)
c.8593A>C (p.Asn2865His)
c.4345A>C (p.Asn1449His)
c.7573A>C (p.Asn2525His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819503A>GCA371776382VPS13Bc.8788A>G (p.Asn2930Asp)
n.8858A>G
c.*4470A>G (n.*4470A>G)
c.8713A>G (p.Asn2905Asp)
c.8785A>G (p.Asn2929Asp)
c.8710A>G (p.Asn2904Asp)
c.8410A>G (p.Asn2804Asp)
c.5674A>G (p.Asn1892Asp)
c.4567A>G (p.Asn1523Asp)
c.8593A>G (p.Asn2865Asp)
c.4345A>G (p.Asn1449Asp)
c.7573A>G (p.Asn2525Asp)
 dbSNP gnomAD v4
8g.99819503A>TCA371776381VPS13Bc.8788A>T (p.Asn2930Tyr)
n.8858A>T
c.*4470A>T (n.*4470A>T)
c.8713A>T (p.Asn2905Tyr)
c.8785A>T (p.Asn2929Tyr)
c.8710A>T (p.Asn2904Tyr)
c.8410A>T (p.Asn2804Tyr)
c.5674A>T (p.Asn1892Tyr)
c.4567A>T (p.Asn1523Tyr)
c.8593A>T (p.Asn2865Tyr)
c.4345A>T (p.Asn1449Tyr)
c.7573A>T (p.Asn2525Tyr)
8g.99819504A>CCA371776385VPS13Bc.8789A>C (p.Asn2930Thr)
n.8859A>C
c.*4471A>C (n.*4471A>C)
c.8714A>C (p.Asn2905Thr)
c.8786A>C (p.Asn2929Thr)
c.8711A>C (p.Asn2904Thr)
c.8411A>C (p.Asn2804Thr)
c.5675A>C (p.Asn1892Thr)
c.4568A>C (p.Asn1523Thr)
c.8594A>C (p.Asn2865Thr)
c.4346A>C (p.Asn1449Thr)
c.7574A>C (p.Asn2525Thr)
8g.99819504A>GCA371776386VPS13Bc.8789A>G (p.Asn2930Ser)
n.8859A>G
c.*4471A>G (n.*4471A>G)
c.8714A>G (p.Asn2905Ser)
c.8786A>G (p.Asn2929Ser)
c.8711A>G (p.Asn2904Ser)
c.8411A>G (p.Asn2804Ser)
c.5675A>G (p.Asn1892Ser)
c.4568A>G (p.Asn1523Ser)
c.8594A>G (p.Asn2865Ser)
c.4346A>G (p.Asn1449Ser)
c.7574A>G (p.Asn2525Ser)
 gnomAD v4
8g.99819504A>TCA371776388VPS13Bc.8789A>T (p.Asn2930Ile)
n.8859A>T
c.*4471A>T (n.*4471A>T)
c.8714A>T (p.Asn2905Ile)
c.8786A>T (p.Asn2929Ile)
c.8711A>T (p.Asn2904Ile)
c.8411A>T (p.Asn2804Ile)
c.5675A>T (p.Asn1892Ile)
c.4568A>T (p.Asn1523Ile)
c.8594A>T (p.Asn2865Ile)
c.4346A>T (p.Asn1449Ile)
c.7574A>T (p.Asn2525Ile)
8g.99819505T>ACA371776391VPS13Bc.8790T>A (p.Asn2930Lys)
n.8860T>A
c.*4472T>A (n.*4472T>A)
c.8715T>A (p.Asn2905Lys)
c.8787T>A (p.Asn2929Lys)
c.8712T>A (p.Asn2904Lys)
c.8412T>A (p.Asn2804Lys)
c.5676T>A (p.Asn1892Lys)
c.4569T>A (p.Asn1523Lys)
c.8595T>A (p.Asn2865Lys)
c.4347T>A (p.Asn1449Lys)
c.7575T>A (p.Asn2525Lys)
8g.99819505T>CCA462339501VPS13Bc.8790T>C (p.Asn2930=)
n.8860T>C
c.*4472T>C (n.*4472T>C)
c.8715T>C (p.Asn2905=)
c.8787T>C (p.Asn2929=)
c.8712T>C (p.Asn2904=)
c.8412T>C (p.Asn2804=)
c.5676T>C (p.Asn1892=)
c.4569T>C (p.Asn1523=)
c.8595T>C (p.Asn2865=)
c.4347T>C (p.Asn1449=)
c.7575T>C (p.Asn2525=)
 gnomAD v4
8g.99819505T>GCA371776392VPS13Bc.8790T>G (p.Asn2930Lys)
n.8860T>G
c.*4472T>G (n.*4472T>G)
c.8715T>G (p.Asn2905Lys)
c.8787T>G (p.Asn2929Lys)
c.8712T>G (p.Asn2904Lys)
c.8412T>G (p.Asn2804Lys)
c.5676T>G (p.Asn1892Lys)
c.4569T>G (p.Asn1523Lys)
c.8595T>G (p.Asn2865Lys)
c.4347T>G (p.Asn1449Lys)
c.7575T>G (p.Asn2525Lys)
8g.99819506C>ACA371776394VPS13Bc.8791C>A (p.Gln2931Lys)
n.8861C>A
c.*4473C>A (n.*4473C>A)
c.8716C>A (p.Gln2906Lys)
c.8788C>A (p.Gln2930Lys)
c.8713C>A (p.Gln2905Lys)
c.8413C>A (p.Gln2805Lys)
c.5677C>A (p.Gln1893Lys)
c.4570C>A (p.Gln1524Lys)
c.8596C>A (p.Gln2866Lys)
c.4348C>A (p.Gln1450Lys)
c.7576C>A (p.Gln2526Lys)
8g.99819506C>GCA371776396VPS13Bc.8791C>G (p.Gln2931Glu)
n.8861C>G
c.*4473C>G (n.*4473C>G)
c.8716C>G (p.Gln2906Glu)
c.8788C>G (p.Gln2930Glu)
c.8713C>G (p.Gln2905Glu)
c.8413C>G (p.Gln2805Glu)
c.5677C>G (p.Gln1893Glu)
c.4570C>G (p.Gln1524Glu)
c.8596C>G (p.Gln2866Glu)
c.4348C>G (p.Gln1450Glu)
c.7576C>G (p.Gln2526Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.99819506C>TCA371776397VPS13Bc.8791C>T (p.Gln2931Ter)
n.8861C>T
c.*4473C>T (n.*4473C>T)
c.8716C>T (p.Gln2906Ter)
c.8788C>T (p.Gln2930Ter)
c.8713C>T (p.Gln2905Ter)
c.8413C>T (p.Gln2805Ter)
c.5677C>T (p.Gln1893Ter)
c.4570C>T (p.Gln1524Ter)
c.8596C>T (p.Gln2866Ter)
c.4348C>T (p.Gln1450Ter)
c.7576C>T (p.Gln2526Ter)
8g.99819507A>CCA371776399VPS13Bc.8792A>C (p.Gln2931Pro)
n.8862A>C
c.*4474A>C (n.*4474A>C)
c.8717A>C (p.Gln2906Pro)
c.8789A>C (p.Gln2930Pro)
c.8714A>C (p.Gln2905Pro)
c.8414A>C (p.Gln2805Pro)
c.5678A>C (p.Gln1893Pro)
c.4571A>C (p.Gln1524Pro)
c.8597A>C (p.Gln2866Pro)
c.4349A>C (p.Gln1450Pro)
c.7577A>C (p.Gln2526Pro)
8g.99819507A>GCA371776401VPS13Bc.8792A>G (p.Gln2931Arg)
n.8862A>G
c.*4474A>G (n.*4474A>G)
c.8717A>G (p.Gln2906Arg)
c.8789A>G (p.Gln2930Arg)
c.8714A>G (p.Gln2905Arg)
c.8414A>G (p.Gln2805Arg)
c.5678A>G (p.Gln1893Arg)
c.4571A>G (p.Gln1524Arg)
c.8597A>G (p.Gln2866Arg)
c.4349A>G (p.Gln1450Arg)
c.7577A>G (p.Gln2526Arg)
 gnomAD v4
8g.99819507A>TCA371776403VPS13Bc.8792A>T (p.Gln2931Leu)
n.8862A>T
c.*4474A>T (n.*4474A>T)
c.8717A>T (p.Gln2906Leu)
c.8789A>T (p.Gln2930Leu)
c.8714A>T (p.Gln2905Leu)
c.8414A>T (p.Gln2805Leu)
c.5678A>T (p.Gln1893Leu)
c.4571A>T (p.Gln1524Leu)
c.8597A>T (p.Gln2866Leu)
c.4349A>T (p.Gln1450Leu)
c.7577A>T (p.Gln2526Leu)
8g.99819508G>ACA462339502VPS13Bc.8793G>A (p.Gln2931=)
n.8863G>A
c.*4475G>A (n.*4475G>A)
c.8718G>A (p.Gln2906=)
c.8790G>A (p.Gln2930=)
c.8715G>A (p.Gln2905=)
c.8415G>A (p.Gln2805=)
c.5679G>A (p.Gln1893=)
c.4572G>A (p.Gln1524=)
c.8598G>A (p.Gln2866=)
c.4350G>A (p.Gln1450=)
c.7578G>A (p.Gln2526=)
 ClinVar
8g.99819508G>CCA371776404VPS13Bc.8793G>C (p.Gln2931His)
n.8863G>C
c.*4475G>C (n.*4475G>C)
c.8718G>C (p.Gln2906His)
c.8790G>C (p.Gln2930His)
c.8715G>C (p.Gln2905His)
c.8415G>C (p.Gln2805His)
c.5679G>C (p.Gln1893His)
c.4572G>C (p.Gln1524His)
c.8598G>C (p.Gln2866His)
c.4350G>C (p.Gln1450His)
c.7578G>C (p.Gln2526His)
8g.99819508G>TCA371776405VPS13Bc.8793G>T (p.Gln2931His)
n.8863G>T
c.*4475G>T (n.*4475G>T)
c.8718G>T (p.Gln2906His)
c.8790G>T (p.Gln2930His)
c.8715G>T (p.Gln2905His)
c.8415G>T (p.Gln2805His)
c.5679G>T (p.Gln1893His)
c.4572G>T (p.Gln1524His)
c.8598G>T (p.Gln2866His)
c.4350G>T (p.Gln1450His)
c.7578G>T (p.Gln2526His)
 gnomAD v4
8g.99819509A>CCA371776408VPS13Bc.8794A>C (p.Ile2932Leu)
n.8864A>C
c.*4476A>C (n.*4476A>C)
c.8719A>C (p.Ile2907Leu)
c.8791A>C (p.Ile2931Leu)
c.8716A>C (p.Ile2906Leu)
c.8416A>C (p.Ile2806Leu)
c.5680A>C (p.Ile1894Leu)
c.4573A>C (p.Ile1525Leu)
c.8599A>C (p.Ile2867Leu)
c.4351A>C (p.Ile1451Leu)
c.7579A>C (p.Ile2527Leu)
 ClinVar gnomAD v4
8g.99819509A>GCA371776409VPS13Bc.8794A>G (p.Ile2932Val)
n.8864A>G
c.*4476A>G (n.*4476A>G)
c.8719A>G (p.Ile2907Val)
c.8791A>G (p.Ile2931Val)
c.8716A>G (p.Ile2906Val)
c.8416A>G (p.Ile2806Val)
c.5680A>G (p.Ile1894Val)
c.4573A>G (p.Ile1525Val)
c.8599A>G (p.Ile2867Val)
c.4351A>G (p.Ile1451Val)
c.7579A>G (p.Ile2527Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819509A>TCA371776411VPS13Bc.8794A>T (p.Ile2932Phe)
n.8864A>T
c.*4476A>T (n.*4476A>T)
c.8719A>T (p.Ile2907Phe)
c.8791A>T (p.Ile2931Phe)
c.8716A>T (p.Ile2906Phe)
c.8416A>T (p.Ile2806Phe)
c.5680A>T (p.Ile1894Phe)
c.4573A>T (p.Ile1525Phe)
c.8599A>T (p.Ile2867Phe)
c.4351A>T (p.Ile1451Phe)
c.7579A>T (p.Ile2527Phe)
8g.99819510T>ACA371776414VPS13Bc.8795T>A (p.Ile2932Asn)
n.8865T>A
c.*4477T>A (n.*4477T>A)
c.8720T>A (p.Ile2907Asn)
c.8792T>A (p.Ile2931Asn)
c.8717T>A (p.Ile2906Asn)
c.8417T>A (p.Ile2806Asn)
c.5681T>A (p.Ile1894Asn)
c.4574T>A (p.Ile1525Asn)
c.8600T>A (p.Ile2867Asn)
c.4352T>A (p.Ile1451Asn)
c.7580T>A (p.Ile2527Asn)
8g.99819510T>CCA371776415VPS13Bc.8795T>C (p.Ile2932Thr)
n.8865T>C
c.*4477T>C (n.*4477T>C)
c.8720T>C (p.Ile2907Thr)
c.8792T>C (p.Ile2931Thr)
c.8717T>C (p.Ile2906Thr)
c.8417T>C (p.Ile2806Thr)
c.5681T>C (p.Ile1894Thr)
c.4574T>C (p.Ile1525Thr)
c.8600T>C (p.Ile2867Thr)
c.4352T>C (p.Ile1451Thr)
c.7580T>C (p.Ile2527Thr)
8g.99819510T>GCA371776417VPS13Bc.8795T>G (p.Ile2932Ser)
n.8865T>G
c.*4477T>G (n.*4477T>G)
c.8720T>G (p.Ile2907Ser)
c.8792T>G (p.Ile2931Ser)
c.8717T>G (p.Ile2906Ser)
c.8417T>G (p.Ile2806Ser)
c.5681T>G (p.Ile1894Ser)
c.4574T>G (p.Ile1525Ser)
c.8600T>G (p.Ile2867Ser)
c.4352T>G (p.Ile1451Ser)
c.7580T>G (p.Ile2527Ser)
8g.99819511C>ACA462339503VPS13Bc.8796C>A (p.Ile2932=)
n.8866C>A
c.*4478C>A (n.*4478C>A)
c.8721C>A (p.Ile2907=)
c.8793C>A (p.Ile2931=)
c.8718C>A (p.Ile2906=)
c.8418C>A (p.Ile2806=)
c.5682C>A (p.Ile1894=)
c.4575C>A (p.Ile1525=)
c.8601C>A (p.Ile2867=)
c.4353C>A (p.Ile1451=)
c.7581C>A (p.Ile2527=)
 ClinVar
8g.99819511C>GCA371776420VPS13Bc.8796C>G (p.Ile2932Met)
n.8866C>G
c.*4478C>G (n.*4478C>G)
c.8721C>G (p.Ile2907Met)
c.8793C>G (p.Ile2931Met)
c.8718C>G (p.Ile2906Met)
c.8418C>G (p.Ile2806Met)
c.5682C>G (p.Ile1894Met)
c.4575C>G (p.Ile1525Met)
c.8601C>G (p.Ile2867Met)
c.4353C>G (p.Ile1451Met)
c.7581C>G (p.Ile2527Met)
8g.99819511C>TCA4824530VPS13Bc.8796C>T (p.Ile2932=)
n.8866C>T
c.*4478C>T (n.*4478C>T)
c.8721C>T (p.Ile2907=)
c.8793C>T (p.Ile2931=)
c.8718C>T (p.Ile2906=)
c.8418C>T (p.Ile2806=)
c.5682C>T (p.Ile1894=)
c.4575C>T (p.Ile1525=)
c.8601C>T (p.Ile2867=)
c.4353C>T (p.Ile1451=)
c.7581C>T (p.Ile2527=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819512C>ACA371776422VPS13Bc.8797C>A (p.Leu2933Ile)
n.8867C>A
c.*4479C>A (n.*4479C>A)
c.8722C>A (p.Leu2908Ile)
c.8794C>A (p.Leu2932Ile)
c.8719C>A (p.Leu2907Ile)
c.8419C>A (p.Leu2807Ile)
c.5683C>A (p.Leu1895Ile)
c.4576C>A (p.Leu1526Ile)
c.8602C>A (p.Leu2868Ile)
c.4354C>A (p.Leu1452Ile)
c.7582C>A (p.Leu2528Ile)
8g.99819512C>GCA371776424VPS13Bc.8797C>G (p.Leu2933Val)
n.8867C>G
c.*4479C>G (n.*4479C>G)
c.8722C>G (p.Leu2908Val)
c.8794C>G (p.Leu2932Val)
c.8719C>G (p.Leu2907Val)
c.8419C>G (p.Leu2807Val)
c.5683C>G (p.Leu1895Val)
c.4576C>G (p.Leu1526Val)
c.8602C>G (p.Leu2868Val)
c.4354C>G (p.Leu1452Val)
c.7582C>G (p.Leu2528Val)
8g.99819512C>TCA371776426VPS13Bc.8797C>T (p.Leu2933Phe)
n.8867C>T
c.*4479C>T (n.*4479C>T)
c.8722C>T (p.Leu2908Phe)
c.8794C>T (p.Leu2932Phe)
c.8719C>T (p.Leu2907Phe)
c.8419C>T (p.Leu2807Phe)
c.5683C>T (p.Leu1895Phe)
c.4576C>T (p.Leu1526Phe)
c.8602C>T (p.Leu2868Phe)
c.4354C>T (p.Leu1452Phe)
c.7582C>T (p.Leu2528Phe)
8g.99819513T>ACA371776429VPS13Bc.8798T>A (p.Leu2933His)
n.8868T>A
c.*4480T>A (n.*4480T>A)
c.8723T>A (p.Leu2908His)
c.8795T>A (p.Leu2932His)
c.8720T>A (p.Leu2907His)
c.8420T>A (p.Leu2807His)
c.5684T>A (p.Leu1895His)
c.4577T>A (p.Leu1526His)
c.8603T>A (p.Leu2868His)
c.4355T>A (p.Leu1452His)
c.7583T>A (p.Leu2528His)
8g.99819513T>CCA371776430VPS13Bc.8798T>C (p.Leu2933Pro)
n.8868T>C
c.*4480T>C (n.*4480T>C)
c.8723T>C (p.Leu2908Pro)
c.8795T>C (p.Leu2932Pro)
c.8720T>C (p.Leu2907Pro)
c.8420T>C (p.Leu2807Pro)
c.5684T>C (p.Leu1895Pro)
c.4577T>C (p.Leu1526Pro)
c.8603T>C (p.Leu2868Pro)
c.4355T>C (p.Leu1452Pro)
c.7583T>C (p.Leu2528Pro)
8g.99819513T>GCA371776432VPS13Bc.8798T>G (p.Leu2933Arg)
n.8868T>G
c.*4480T>G (n.*4480T>G)
c.8723T>G (p.Leu2908Arg)
c.8795T>G (p.Leu2932Arg)
c.8720T>G (p.Leu2907Arg)
c.8420T>G (p.Leu2807Arg)
c.5684T>G (p.Leu1895Arg)
c.4577T>G (p.Leu1526Arg)
c.8603T>G (p.Leu2868Arg)
c.4355T>G (p.Leu1452Arg)
c.7583T>G (p.Leu2528Arg)
8g.99819514T>ACA462339504VPS13Bc.8799T>A (p.Leu2933=)
n.8869T>A
c.*4481T>A (n.*4481T>A)
c.8724T>A (p.Leu2908=)
c.8796T>A (p.Leu2932=)
c.8721T>A (p.Leu2907=)
c.8421T>A (p.Leu2807=)
c.5685T>A (p.Leu1895=)
c.4578T>A (p.Leu1526=)
c.8604T>A (p.Leu2868=)
c.4356T>A (p.Leu1452=)
c.7584T>A (p.Leu2528=)
8g.99819514T>CCA462339505VPS13Bc.8799T>C (p.Leu2933=)
n.8869T>C
c.*4481T>C (n.*4481T>C)
c.8724T>C (p.Leu2908=)
c.8796T>C (p.Leu2932=)
c.8721T>C (p.Leu2907=)
c.8421T>C (p.Leu2807=)
c.5685T>C (p.Leu1895=)
c.4578T>C (p.Leu1526=)
c.8604T>C (p.Leu2868=)
c.4356T>C (p.Leu1452=)
c.7584T>C (p.Leu2528=)
8g.99819514T>GCA462339506VPS13Bc.8799T>G (p.Leu2933=)
n.8869T>G
c.*4481T>G (n.*4481T>G)
c.8724T>G (p.Leu2908=)
c.8796T>G (p.Leu2932=)
c.8721T>G (p.Leu2907=)
c.8421T>G (p.Leu2807=)
c.5685T>G (p.Leu1895=)
c.4578T>G (p.Leu1526=)
c.8604T>G (p.Leu2868=)
c.4356T>G (p.Leu1452=)
c.7584T>G (p.Leu2528=)
8g.99819515G>ACA371776434VPS13Bc.8800G>A (p.Asp2934Asn)
n.8870G>A
c.*4482G>A (n.*4482G>A)
c.8725G>A (p.Asp2909Asn)
c.8797G>A (p.Asp2933Asn)
c.8722G>A (p.Asp2908Asn)
c.8422G>A (p.Asp2808Asn)
c.5686G>A (p.Asp1896Asn)
c.4579G>A (p.Asp1527Asn)
c.8605G>A (p.Asp2869Asn)
c.4357G>A (p.Asp1453Asn)
c.7585G>A (p.Asp2529Asn)
 ClinVar gnomAD v4
8g.99819515G>CCA371776438VPS13Bc.8800G>C (p.Asp2934His)
n.8870G>C
c.*4482G>C (n.*4482G>C)
c.8725G>C (p.Asp2909His)
c.8797G>C (p.Asp2933His)
c.8722G>C (p.Asp2908His)
c.8422G>C (p.Asp2808His)
c.5686G>C (p.Asp1896His)
c.4579G>C (p.Asp1527His)
c.8605G>C (p.Asp2869His)
c.4357G>C (p.Asp1453His)
c.7585G>C (p.Asp2529His)
8g.99819515G>TCA371776436VPS13Bc.8800G>T (p.Asp2934Tyr)
n.8870G>T
c.*4482G>T (n.*4482G>T)
c.8725G>T (p.Asp2909Tyr)
c.8797G>T (p.Asp2933Tyr)
c.8722G>T (p.Asp2908Tyr)
c.8422G>T (p.Asp2808Tyr)
c.5686G>T (p.Asp1896Tyr)
c.4579G>T (p.Asp1527Tyr)
c.8605G>T (p.Asp2869Tyr)
c.4357G>T (p.Asp1453Tyr)
c.7585G>T (p.Asp2529Tyr)
8g.99819516A>CCA371776441VPS13Bc.8801A>C (p.Asp2934Ala)
n.8871A>C
c.*4483A>C (n.*4483A>C)
c.8726A>C (p.Asp2909Ala)
c.8798A>C (p.Asp2933Ala)
c.8723A>C (p.Asp2908Ala)
c.8423A>C (p.Asp2808Ala)
c.5687A>C (p.Asp1896Ala)
c.4580A>C (p.Asp1527Ala)
c.8606A>C (p.Asp2869Ala)
c.4358A>C (p.Asp1453Ala)
c.7586A>C (p.Asp2529Ala)
8g.99819516A>GCA371776443VPS13Bc.8801A>G (p.Asp2934Gly)
n.8871A>G
c.*4483A>G (n.*4483A>G)
c.8726A>G (p.Asp2909Gly)
c.8798A>G (p.Asp2933Gly)
c.8723A>G (p.Asp2908Gly)
c.8423A>G (p.Asp2808Gly)
c.5687A>G (p.Asp1896Gly)
c.4580A>G (p.Asp1527Gly)
c.8606A>G (p.Asp2869Gly)
c.4358A>G (p.Asp1453Gly)
c.7586A>G (p.Asp2529Gly)
8g.99819516A>TCA371776445VPS13Bc.8801A>T (p.Asp2934Val)
n.8871A>T
c.*4483A>T (n.*4483A>T)
c.8726A>T (p.Asp2909Val)
c.8798A>T (p.Asp2933Val)
c.8723A>T (p.Asp2908Val)
c.8423A>T (p.Asp2808Val)
c.5687A>T (p.Asp1896Val)
c.4580A>T (p.Asp1527Val)
c.8606A>T (p.Asp2869Val)
c.4358A>T (p.Asp1453Val)
c.7586A>T (p.Asp2529Val)
8g.99819517C>ACA371776447VPS13Bc.8802C>A (p.Asp2934Glu)
n.8872C>A
c.*4484C>A (n.*4484C>A)
c.8727C>A (p.Asp2909Glu)
c.8799C>A (p.Asp2933Glu)
c.8724C>A (p.Asp2908Glu)
c.8424C>A (p.Asp2808Glu)
c.5688C>A (p.Asp1896Glu)
c.4581C>A (p.Asp1527Glu)
c.8607C>A (p.Asp2869Glu)
c.4359C>A (p.Asp1453Glu)
c.7587C>A (p.Asp2529Glu)
8g.99819517C>GCA371776449VPS13Bc.8802C>G (p.Asp2934Glu)
n.8872C>G
c.*4484C>G (n.*4484C>G)
c.8727C>G (p.Asp2909Glu)
c.8799C>G (p.Asp2933Glu)
c.8724C>G (p.Asp2908Glu)
c.8424C>G (p.Asp2808Glu)
c.5688C>G (p.Asp1896Glu)
c.4581C>G (p.Asp1527Glu)
c.8607C>G (p.Asp2869Glu)
c.4359C>G (p.Asp1453Glu)
c.7587C>G (p.Asp2529Glu)
8g.99819517C>TCA4824531VPS13Bc.8802C>T (p.Asp2934=)
n.8872C>T
c.*4484C>T (n.*4484C>T)
c.8727C>T (p.Asp2909=)
c.8799C>T (p.Asp2933=)
c.8724C>T (p.Asp2908=)
c.8424C>T (p.Asp2808=)
c.5688C>T (p.Asp1896=)
c.4581C>T (p.Asp1527=)
c.8607C>T (p.Asp2869=)
c.4359C>T (p.Asp1453=)
c.7587C>T (p.Asp2529=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819518G>ACA4824532VPS13Bc.8803G>A (p.Glu2935Lys)
n.8873G>A
c.*4485G>A (n.*4485G>A)
c.8728G>A (p.Glu2910Lys)
c.8800G>A (p.Glu2934Lys)
c.8725G>A (p.Glu2909Lys)
c.8425G>A (p.Glu2809Lys)
c.5689G>A (p.Glu1897Lys)
c.4582G>A (p.Glu1528Lys)
c.8608G>A (p.Glu2870Lys)
c.4360G>A (p.Glu1454Lys)
c.7588G>A (p.Glu2530Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99819518G>CCA371776453VPS13Bc.8803G>C (p.Glu2935Gln)
n.8873G>C
c.*4485G>C (n.*4485G>C)
c.8728G>C (p.Glu2910Gln)
c.8800G>C (p.Glu2934Gln)
c.8725G>C (p.Glu2909Gln)
c.8425G>C (p.Glu2809Gln)
c.5689G>C (p.Glu1897Gln)
c.4582G>C (p.Glu1528Gln)
c.8608G>C (p.Glu2870Gln)
c.4360G>C (p.Glu1454Gln)
c.7588G>C (p.Glu2530Gln)
 gnomAD v4
8g.99819518G>TCA371776455VPS13Bc.8803G>T (p.Glu2935Ter)
n.8873G>T
c.*4485G>T (n.*4485G>T)
c.8728G>T (p.Glu2910Ter)
c.8800G>T (p.Glu2934Ter)
c.8725G>T (p.Glu2909Ter)
c.8425G>T (p.Glu2809Ter)
c.5689G>T (p.Glu1897Ter)
c.4582G>T (p.Glu1528Ter)
c.8608G>T (p.Glu2870Ter)
c.4360G>T (p.Glu1454Ter)
c.7588G>T (p.Glu2530Ter)
 COSMIC COSMIC
8g.99819519A>CCA371776456VPS13Bc.8804A>C (p.Glu2935Ala)
n.8874A>C
c.*4486A>C (n.*4486A>C)
c.8729A>C (p.Glu2910Ala)
c.8801A>C (p.Glu2934Ala)
c.8726A>C (p.Glu2909Ala)
c.8426A>C (p.Glu2809Ala)
c.5690A>C (p.Glu1897Ala)
c.4583A>C (p.Glu1528Ala)
c.8609A>C (p.Glu2870Ala)
c.4361A>C (p.Glu1454Ala)
c.7589A>C (p.Glu2530Ala)
8g.99819519A>GCA371776457VPS13Bc.8804A>G (p.Glu2935Gly)
n.8874A>G
c.*4486A>G (n.*4486A>G)
c.8729A>G (p.Glu2910Gly)
c.8801A>G (p.Glu2934Gly)
c.8726A>G (p.Glu2909Gly)
c.8426A>G (p.Glu2809Gly)
c.5690A>G (p.Glu1897Gly)
c.4583A>G (p.Glu1528Gly)
c.8609A>G (p.Glu2870Gly)
c.4361A>G (p.Glu1454Gly)
c.7589A>G (p.Glu2530Gly)
8g.99819519A>TCA371776458VPS13Bc.8804A>T (p.Glu2935Val)
n.8874A>T
c.*4486A>T (n.*4486A>T)
c.8729A>T (p.Glu2910Val)
c.8801A>T (p.Glu2934Val)
c.8726A>T (p.Glu2909Val)
c.8426A>T (p.Glu2809Val)
c.5690A>T (p.Glu1897Val)
c.4583A>T (p.Glu1528Val)
c.8609A>T (p.Glu2870Val)
c.4361A>T (p.Glu1454Val)
c.7589A>T (p.Glu2530Val)
8g.99819520A>CCA371776463VPS13Bc.8805A>C (p.Glu2935Asp)
n.8875A>C
c.*4487A>C (n.*4487A>C)
c.8730A>C (p.Glu2910Asp)
c.8802A>C (p.Glu2934Asp)
c.8727A>C (p.Glu2909Asp)
c.8427A>C (p.Glu2809Asp)
c.5691A>C (p.Glu1897Asp)
c.4584A>C (p.Glu1528Asp)
c.8610A>C (p.Glu2870Asp)
c.4362A>C (p.Glu1454Asp)
c.7590A>C (p.Glu2530Asp)
8g.99819520A>GCA462339507VPS13Bc.8805A>G (p.Glu2935=)
n.8875A>G
c.*4487A>G (n.*4487A>G)
c.8730A>G (p.Glu2910=)
c.8802A>G (p.Glu2934=)
c.8727A>G (p.Glu2909=)
c.8427A>G (p.Glu2809=)
c.5691A>G (p.Glu1897=)
c.4584A>G (p.Glu1528=)
c.8610A>G (p.Glu2870=)
c.4362A>G (p.Glu1454=)
c.7590A>G (p.Glu2530=)
 ClinVar dbSNP
8g.99819520A>TCA371776461VPS13Bc.8805A>T (p.Glu2935Asp)
n.8875A>T
c.*4487A>T (n.*4487A>T)
c.8730A>T (p.Glu2910Asp)
c.8802A>T (p.Glu2934Asp)
c.8727A>T (p.Glu2909Asp)
c.8427A>T (p.Glu2809Asp)
c.5691A>T (p.Glu1897Asp)
c.4584A>T (p.Glu1528Asp)
c.8610A>T (p.Glu2870Asp)
c.4362A>T (p.Glu1454Asp)
c.7590A>T (p.Glu2530Asp)
8g.99819521T>ACA371776465VPS13Bc.8806T>A (p.Phe2936Ile)
n.8876T>A
c.*4488T>A (n.*4488T>A)
c.8731T>A (p.Phe2911Ile)
c.8803T>A (p.Phe2935Ile)
c.8728T>A (p.Phe2910Ile)
c.8428T>A (p.Phe2810Ile)
c.5692T>A (p.Phe1898Ile)
c.4585T>A (p.Phe1529Ile)
c.8611T>A (p.Phe2871Ile)
c.4363T>A (p.Phe1455Ile)
c.7591T>A (p.Phe2531Ile)
8g.99819521T>CCA371776469VPS13Bc.8806T>C (p.Phe2936Leu)
n.8876T>C
c.*4488T>C (n.*4488T>C)
c.8731T>C (p.Phe2911Leu)
c.8803T>C (p.Phe2935Leu)
c.8728T>C (p.Phe2910Leu)
c.8428T>C (p.Phe2810Leu)
c.5692T>C (p.Phe1898Leu)
c.4585T>C (p.Phe1529Leu)
c.8611T>C (p.Phe2871Leu)
c.4363T>C (p.Phe1455Leu)
c.7591T>C (p.Phe2531Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.99819521T>GCA371776467VPS13Bc.8806T>G (p.Phe2936Val)
n.8876T>G
c.*4488T>G (n.*4488T>G)
c.8731T>G (p.Phe2911Val)
c.8803T>G (p.Phe2935Val)
c.8728T>G (p.Phe2910Val)
c.8428T>G (p.Phe2810Val)
c.5692T>G (p.Phe1898Val)
c.4585T>G (p.Phe1529Val)
c.8611T>G (p.Phe2871Val)
c.4363T>G (p.Phe1455Val)
c.7591T>G (p.Phe2531Val)
8g.99819522T>ACA371776471VPS13Bc.8807T>A (p.Phe2936Tyr)
n.8877T>A
c.*4489T>A (n.*4489T>A)
c.8732T>A (p.Phe2911Tyr)
c.8804T>A (p.Phe2935Tyr)
c.8729T>A (p.Phe2910Tyr)
c.8429T>A (p.Phe2810Tyr)
c.5693T>A (p.Phe1898Tyr)
c.4586T>A (p.Phe1529Tyr)
c.8612T>A (p.Phe2871Tyr)
c.4364T>A (p.Phe1455Tyr)
c.7592T>A (p.Phe2531Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.99819522T>CCA371776475VPS13Bc.8807T>C (p.Phe2936Ser)
n.8877T>C
c.*4489T>C (n.*4489T>C)
c.8732T>C (p.Phe2911Ser)
c.8804T>C (p.Phe2935Ser)
c.8729T>C (p.Phe2910Ser)
c.8429T>C (p.Phe2810Ser)
c.5693T>C (p.Phe1898Ser)
c.4586T>C (p.Phe1529Ser)
c.8612T>C (p.Phe2871Ser)
c.4364T>C (p.Phe1455Ser)
c.7592T>C (p.Phe2531Ser)
8g.99819522T>GCA371776473VPS13Bc.8807T>G (p.Phe2936Cys)
n.8877T>G
c.*4489T>G (n.*4489T>G)
c.8732T>G (p.Phe2911Cys)
c.8804T>G (p.Phe2935Cys)
c.8729T>G (p.Phe2910Cys)
c.8429T>G (p.Phe2810Cys)
c.5693T>G (p.Phe1898Cys)
c.4586T>G (p.Phe1529Cys)
c.8612T>G (p.Phe2871Cys)
c.4364T>G (p.Phe1455Cys)
c.7592T>G (p.Phe2531Cys)
8g.99819523C>ACA371776477VPS13Bc.8808C>A (p.Phe2936Leu)
n.8878C>A
c.*4490C>A (n.*4490C>A)
c.8733C>A (p.Phe2911Leu)
c.8805C>A (p.Phe2935Leu)
c.8730C>A (p.Phe2910Leu)
c.8430C>A (p.Phe2810Leu)
c.5694C>A (p.Phe1898Leu)
c.4587C>A (p.Phe1529Leu)
c.8613C>A (p.Phe2871Leu)
c.4365C>A (p.Phe1455Leu)
c.7593C>A (p.Phe2531Leu)
 ClinVar dbSNP COSMIC COSMIC
8g.99819523C>GCA371776478VPS13Bc.8808C>G (p.Phe2936Leu)
n.8878C>G
c.*4490C>G (n.*4490C>G)
c.8733C>G (p.Phe2911Leu)
c.8805C>G (p.Phe2935Leu)
c.8730C>G (p.Phe2910Leu)
c.8430C>G (p.Phe2810Leu)
c.5694C>G (p.Phe1898Leu)
c.4587C>G (p.Phe1529Leu)
c.8613C>G (p.Phe2871Leu)
c.4365C>G (p.Phe1455Leu)
c.7593C>G (p.Phe2531Leu)
8g.99819523C>TCA182328736VPS13Bc.8808C>T (p.Phe2936=)
n.8878C>T
c.*4490C>T (n.*4490C>T)
c.8733C>T (p.Phe2911=)
c.8805C>T (p.Phe2935=)
c.8730C>T (p.Phe2910=)
c.8430C>T (p.Phe2810=)
c.5694C>T (p.Phe1898=)
c.4587C>T (p.Phe1529=)
c.8613C>T (p.Phe2871=)
c.4365C>T (p.Phe1455=)
c.7593C>T (p.Phe2531=)
 ClinVar dbSNP COSMIC COSMIC
8g.99819524T>ACA371776481VPS13Bc.8809T>A (p.Tyr2937Asn)
n.8879T>A
c.*4491T>A (n.*4491T>A)
c.8734T>A (p.Tyr2912Asn)
c.8806T>A (p.Tyr2936Asn)
c.8731T>A (p.Tyr2911Asn)
c.8431T>A (p.Tyr2811Asn)
c.5695T>A (p.Tyr1899Asn)
c.4588T>A (p.Tyr1530Asn)
c.8614T>A (p.Tyr2872Asn)
c.4366T>A (p.Tyr1456Asn)
c.7594T>A (p.Tyr2532Asn)
8g.99819524T>CCA4824533VPS13Bc.8809T>C (p.Tyr2937His)
n.8879T>C
c.*4491T>C (n.*4491T>C)
c.8734T>C (p.Tyr2912His)
c.8806T>C (p.Tyr2936His)
c.8731T>C (p.Tyr2911His)
c.8431T>C (p.Tyr2811His)
c.5695T>C (p.Tyr1899His)
c.4588T>C (p.Tyr1530His)
c.8614T>C (p.Tyr2872His)
c.4366T>C (p.Tyr1456His)
c.7594T>C (p.Tyr2532His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819524T>GCA371776483VPS13Bc.8809T>G (p.Tyr2937Asp)
n.8879T>G
c.*4491T>G (n.*4491T>G)
c.8734T>G (p.Tyr2912Asp)
c.8806T>G (p.Tyr2936Asp)
c.8731T>G (p.Tyr2911Asp)
c.8431T>G (p.Tyr2811Asp)
c.5695T>G (p.Tyr1899Asp)
c.4588T>G (p.Tyr1530Asp)
c.8614T>G (p.Tyr2872Asp)
c.4366T>G (p.Tyr1456Asp)
c.7594T>G (p.Tyr2532Asp)
8g.99819525A>CCA371776486VPS13Bc.8810A>C (p.Tyr2937Ser)
n.8880A>C
c.*4492A>C (n.*4492A>C)
c.8735A>C (p.Tyr2912Ser)
c.8807A>C (p.Tyr2936Ser)
c.8732A>C (p.Tyr2911Ser)
c.8432A>C (p.Tyr2811Ser)
c.5696A>C (p.Tyr1899Ser)
c.4589A>C (p.Tyr1530Ser)
c.8615A>C (p.Tyr2872Ser)
c.4367A>C (p.Tyr1456Ser)
c.7595A>C (p.Tyr2532Ser)
8g.99819525A>GCA4824534VPS13Bc.8810A>G (p.Tyr2937Cys)
n.8880A>G
c.*4492A>G (n.*4492A>G)
c.8735A>G (p.Tyr2912Cys)
c.8807A>G (p.Tyr2936Cys)
c.8732A>G (p.Tyr2911Cys)
c.8432A>G (p.Tyr2811Cys)
c.5696A>G (p.Tyr1899Cys)
c.4589A>G (p.Tyr1530Cys)
c.8615A>G (p.Tyr2872Cys)
c.4367A>G (p.Tyr1456Cys)
c.7595A>G (p.Tyr2532Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819525A>TCA371776488VPS13Bc.8810A>T (p.Tyr2937Phe)
n.8880A>T
c.*4492A>T (n.*4492A>T)
c.8735A>T (p.Tyr2912Phe)
c.8807A>T (p.Tyr2936Phe)
c.8732A>T (p.Tyr2911Phe)
c.8432A>T (p.Tyr2811Phe)
c.5696A>T (p.Tyr1899Phe)
c.4589A>T (p.Tyr1530Phe)
c.8615A>T (p.Tyr2872Phe)
c.4367A>T (p.Tyr1456Phe)
c.7595A>T (p.Tyr2532Phe)
8g.99819526T>ACA371776490VPS13Bc.8811T>A (p.Tyr2937Ter)
n.8881T>A
c.*4493T>A (n.*4493T>A)
c.8736T>A (p.Tyr2912Ter)
c.8808T>A (p.Tyr2936Ter)
c.8733T>A (p.Tyr2911Ter)
c.8433T>A (p.Tyr2811Ter)
c.5697T>A (p.Tyr1899Ter)
c.4590T>A (p.Tyr1530Ter)
c.8616T>A (p.Tyr2872Ter)
c.4368T>A (p.Tyr1456Ter)
c.7596T>A (p.Tyr2532Ter)
8g.99819526T>CCA462339508VPS13Bc.8811T>C (p.Tyr2937=)
n.8881T>C
c.*4493T>C (n.*4493T>C)
c.8736T>C (p.Tyr2912=)
c.8808T>C (p.Tyr2936=)
c.8733T>C (p.Tyr2911=)
c.8433T>C (p.Tyr2811=)
c.5697T>C (p.Tyr1899=)
c.4590T>C (p.Tyr1530=)
c.8616T>C (p.Tyr2872=)
c.4368T>C (p.Tyr1456=)
c.7596T>C (p.Tyr2532=)
 gnomAD v4
8g.99819526T>GCA371776492VPS13Bc.8811T>G (p.Tyr2937Ter)
n.8881T>G
c.*4493T>G (n.*4493T>G)
c.8736T>G (p.Tyr2912Ter)
c.8808T>G (p.Tyr2936Ter)
c.8733T>G (p.Tyr2911Ter)
c.8433T>G (p.Tyr2811Ter)
c.5697T>G (p.Tyr1899Ter)
c.4590T>G (p.Tyr1530Ter)
c.8616T>G (p.Tyr2872Ter)
c.4368T>G (p.Tyr1456Ter)
c.7596T>G (p.Tyr2532Ter)
8g.99819527G>ACA371776494VPS13Bc.8812G>A (p.Gly2938Arg)
n.8882G>A
c.*4494G>A (n.*4494G>A)
c.8737G>A (p.Gly2913Arg)
c.8809G>A (p.Gly2937Arg)
c.8734G>A (p.Gly2912Arg)
c.8434G>A (p.Gly2812Arg)
c.5698G>A (p.Gly1900Arg)
c.4591G>A (p.Gly1531Arg)
c.8617G>A (p.Gly2873Arg)
c.4369G>A (p.Gly1457Arg)
c.7597G>A (p.Gly2533Arg)
8g.99819527G>CCA371776496VPS13Bc.8812G>C (p.Gly2938Arg)
n.8882G>C
c.*4494G>C (n.*4494G>C)
c.8737G>C (p.Gly2913Arg)
c.8809G>C (p.Gly2937Arg)
c.8734G>C (p.Gly2912Arg)
c.8434G>C (p.Gly2812Arg)
c.5698G>C (p.Gly1900Arg)
c.4591G>C (p.Gly1531Arg)
c.8617G>C (p.Gly2873Arg)
c.4369G>C (p.Gly1457Arg)
c.7597G>C (p.Gly2533Arg)
8g.99819527G>TCA4824535VPS13Bc.8812G>T (p.Gly2938Trp)
n.8882G>T
c.*4494G>T (n.*4494G>T)
c.8737G>T (p.Gly2913Trp)
c.8809G>T (p.Gly2937Trp)
c.8734G>T (p.Gly2912Trp)
c.8434G>T (p.Gly2812Trp)
c.5698G>T (p.Gly1900Trp)
c.4591G>T (p.Gly1531Trp)
c.8617G>T (p.Gly2873Trp)
c.4369G>T (p.Gly1457Trp)
c.7597G>T (p.Gly2533Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819528G>ACA371776499VPS13Bc.8813G>A (p.Gly2938Glu)
n.8883G>A
c.*4495G>A (n.*4495G>A)
c.8738G>A (p.Gly2913Glu)
c.8810G>A (p.Gly2937Glu)
c.8735G>A (p.Gly2912Glu)
c.8435G>A (p.Gly2812Glu)
c.5699G>A (p.Gly1900Glu)
c.4592G>A (p.Gly1531Glu)
c.8618G>A (p.Gly2873Glu)
c.4370G>A (p.Gly1457Glu)
c.7598G>A (p.Gly2533Glu)
 COSMIC COSMIC
8g.99819528G>CCA371776501VPS13Bc.8813G>C (p.Gly2938Ala)
n.8883G>C
c.*4495G>C (n.*4495G>C)
c.8738G>C (p.Gly2913Ala)
c.8810G>C (p.Gly2937Ala)
c.8735G>C (p.Gly2912Ala)
c.8435G>C (p.Gly2812Ala)
c.5699G>C (p.Gly1900Ala)
c.4592G>C (p.Gly1531Ala)
c.8618G>C (p.Gly2873Ala)
c.4370G>C (p.Gly1457Ala)
c.7598G>C (p.Gly2533Ala)
8g.99819528G>TCA371776503VPS13Bc.8813G>T (p.Gly2938Val)
n.8883G>T
c.*4495G>T (n.*4495G>T)
c.8738G>T (p.Gly2913Val)
c.8810G>T (p.Gly2937Val)
c.8735G>T (p.Gly2912Val)
c.8435G>T (p.Gly2812Val)
c.5699G>T (p.Gly1900Val)
c.4592G>T (p.Gly1531Val)
c.8618G>T (p.Gly2873Val)
c.4370G>T (p.Gly1457Val)
c.7598G>T (p.Gly2533Val)
8g.99819529G>ACA462339509VPS13Bc.8814G>A (p.Gly2938=)
n.8884G>A
c.*4496G>A (n.*4496G>A)
c.8739G>A (p.Gly2913=)
c.8811G>A (p.Gly2937=)
c.8736G>A (p.Gly2912=)
c.8436G>A (p.Gly2812=)
c.5700G>A (p.Gly1900=)
c.4593G>A (p.Gly1531=)
c.8619G>A (p.Gly2873=)
c.4371G>A (p.Gly1457=)
c.7599G>A (p.Gly2533=)
8g.99819529G>CCA462339510VPS13Bc.8814G>C (p.Gly2938=)
n.8884G>C
c.*4496G>C (n.*4496G>C)
c.8739G>C (p.Gly2913=)
c.8811G>C (p.Gly2937=)
c.8736G>C (p.Gly2912=)
c.8436G>C (p.Gly2812=)
c.5700G>C (p.Gly1900=)
c.4593G>C (p.Gly1531=)
c.8619G>C (p.Gly2873=)
c.4371G>C (p.Gly1457=)
c.7599G>C (p.Gly2533=)
8g.99819529G>TCA207444VPS13Bc.8814G>T (p.Gly2938=)
n.8884G>T
c.*4496G>T (n.*4496G>T)
c.8739G>T (p.Gly2913=)
c.8811G>T (p.Gly2937=)
c.8736G>T (p.Gly2912=)
c.8436G>T (p.Gly2812=)
c.5700G>T (p.Gly1900=)
c.4593G>T (p.Gly1531=)
c.8619G>T (p.Gly2873=)
c.4371G>T (p.Gly1457=)
c.7599G>T (p.Gly2533=)
 ClinVar dbSNP gnomAD v4
8g.99819530C>ACA371776507VPS13Bc.8815C>A (p.Pro2939Thr)
n.8885C>A
c.*4497C>A (n.*4497C>A)
c.8740C>A (p.Pro2914Thr)
c.8812C>A (p.Pro2938Thr)
c.8737C>A (p.Pro2913Thr)
c.8437C>A (p.Pro2813Thr)
c.5701C>A (p.Pro1901Thr)
c.4594C>A (p.Pro1532Thr)
c.8620C>A (p.Pro2874Thr)
c.4372C>A (p.Pro1458Thr)
c.7600C>A (p.Pro2534Thr)
8g.99819530C>GCA371776511VPS13Bc.8815C>G (p.Pro2939Ala)
n.8885C>G
c.*4497C>G (n.*4497C>G)
c.8740C>G (p.Pro2914Ala)
c.8812C>G (p.Pro2938Ala)
c.8737C>G (p.Pro2913Ala)
c.8437C>G (p.Pro2813Ala)
c.5701C>G (p.Pro1901Ala)
c.4594C>G (p.Pro1532Ala)
c.8620C>G (p.Pro2874Ala)
c.4372C>G (p.Pro1458Ala)
c.7600C>G (p.Pro2534Ala)
8g.99819530C>TCA371776509VPS13Bc.8815C>T (p.Pro2939Ser)
n.8885C>T
c.*4497C>T (n.*4497C>T)
c.8740C>T (p.Pro2914Ser)
c.8812C>T (p.Pro2938Ser)
c.8737C>T (p.Pro2913Ser)
c.8437C>T (p.Pro2813Ser)
c.5701C>T (p.Pro1901Ser)
c.4594C>T (p.Pro1532Ser)
c.8620C>T (p.Pro2874Ser)
c.4372C>T (p.Pro1458Ser)
c.7600C>T (p.Pro2534Ser)
8g.99819531delCA462339511VPS13Bc.8816del (p.Pro2939GlnfsTer22)
n.8886del
c.*4498del (n.*4498del)
c.8741del (p.Pro2914GlnfsTer22)
c.8813del (p.Pro2938GlnfsTer22)
c.8738del (p.Pro2913GlnfsTer22)
c.8438del (p.Pro2813GlnfsTer22)
c.5702del (p.Pro1901GlnfsTer22)
c.4595del (p.Pro1532GlnfsTer22)
c.8621del (p.Pro2874GlnfsTer22)
c.4373del (p.Pro1458GlnfsTer22)
c.7601del (p.Pro2534GlnfsTer22)
8g.99819531C>ACA371776513VPS13Bc.8816C>A (p.Pro2939Gln)
n.8886C>A
c.*4498C>A (n.*4498C>A)
c.8741C>A (p.Pro2914Gln)
c.8813C>A (p.Pro2938Gln)
c.8738C>A (p.Pro2913Gln)
c.8438C>A (p.Pro2813Gln)
c.5702C>A (p.Pro1901Gln)
c.4595C>A (p.Pro1532Gln)
c.8621C>A (p.Pro2874Gln)
c.4373C>A (p.Pro1458Gln)
c.7601C>A (p.Pro2534Gln)
8g.99819531C>GCA371776515VPS13Bc.8816C>G (p.Pro2939Arg)
n.8886C>G
c.*4498C>G (n.*4498C>G)
c.8741C>G (p.Pro2914Arg)
c.8813C>G (p.Pro2938Arg)
c.8738C>G (p.Pro2913Arg)
c.8438C>G (p.Pro2813Arg)
c.5702C>G (p.Pro1901Arg)
c.4595C>G (p.Pro1532Arg)
c.8621C>G (p.Pro2874Arg)
c.4373C>G (p.Pro1458Arg)
c.7601C>G (p.Pro2534Arg)
8g.99819531C>TCA4824536VPS13Bc.8816C>T (p.Pro2939Leu)
n.8886C>T
c.*4498C>T (n.*4498C>T)
c.8741C>T (p.Pro2914Leu)
c.8813C>T (p.Pro2938Leu)
c.8738C>T (p.Pro2913Leu)
c.8438C>T (p.Pro2813Leu)
c.5702C>T (p.Pro1901Leu)
c.4595C>T (p.Pro1532Leu)
c.8621C>T (p.Pro2874Leu)
c.4373C>T (p.Pro1458Leu)
c.7601C>T (p.Pro2534Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819531_99819546delCA2697550098VPS13Bc.8816_8831del (p.Pro2939HisfsTer17)
n.8886_8901del
c.*4498_*4513del (n.*4498_*4513del)
c.8741_8756del (p.Pro2914HisfsTer17)
c.8813_8828del (p.Pro2938HisfsTer17)
c.8738_8753del (p.Pro2913HisfsTer17)
c.8438_8453del (p.Pro2813HisfsTer17)
c.5702_5717del (p.Pro1901HisfsTer17)
c.4595_4610del (p.Pro1532HisfsTer17)
c.8621_8636del (p.Pro2874HisfsTer17)
c.4373_4388del (p.Pro1458HisfsTer17)
c.7601_7616del (p.Pro2534HisfsTer17)
 ClinVar
8g.99819532A>CCA462339512VPS13Bc.8817A>C (p.Pro2939=)
n.8887A>C
c.*4499A>C (n.*4499A>C)
c.8742A>C (p.Pro2914=)
c.8814A>C (p.Pro2938=)
c.8739A>C (p.Pro2913=)
c.8439A>C (p.Pro2813=)
c.5703A>C (p.Pro1901=)
c.4596A>C (p.Pro1532=)
c.8622A>C (p.Pro2874=)
c.4374A>C (p.Pro1458=)
c.7602A>C (p.Pro2534=)
8g.99819532A>GCA182328755VPS13Bc.8817A>G (p.Pro2939=)
n.8887A>G
c.*4499A>G (n.*4499A>G)
c.8742A>G (p.Pro2914=)
c.8814A>G (p.Pro2938=)
c.8739A>G (p.Pro2913=)
c.8439A>G (p.Pro2813=)
c.5703A>G (p.Pro1901=)
c.4596A>G (p.Pro1532=)
c.8622A>G (p.Pro2874=)
c.4374A>G (p.Pro1458=)
c.7602A>G (p.Pro2534=)
 dbSNP
8g.99819532A>TCA462339513VPS13Bc.8817A>T (p.Pro2939=)
n.8887A>T
c.*4499A>T (n.*4499A>T)
c.8742A>T (p.Pro2914=)
c.8814A>T (p.Pro2938=)
c.8739A>T (p.Pro2913=)
c.8439A>T (p.Pro2813=)
c.5703A>T (p.Pro1901=)
c.4596A>T (p.Pro1532=)
c.8622A>T (p.Pro2874=)
c.4374A>T (p.Pro1458=)
c.7602A>T (p.Pro2534=)
8g.99819533G>ACA371776518VPS13Bc.8818G>A (p.Glu2940Lys)
n.8888G>A
c.*4500G>A (n.*4500G>A)
c.8743G>A (p.Glu2915Lys)
c.8815G>A (p.Glu2939Lys)
c.8740G>A (p.Glu2914Lys)
c.8440G>A (p.Glu2814Lys)
c.5704G>A (p.Glu1902Lys)
c.4597G>A (p.Glu1533Lys)
c.8623G>A (p.Glu2875Lys)
c.4375G>A (p.Glu1459Lys)
c.7603G>A (p.Glu2535Lys)
8g.99819533G>CCA371776520VPS13Bc.8818G>C (p.Glu2940Gln)
n.8888G>C
c.*4500G>C (n.*4500G>C)
c.8743G>C (p.Glu2915Gln)
c.8815G>C (p.Glu2939Gln)
c.8740G>C (p.Glu2914Gln)
c.8440G>C (p.Glu2814Gln)
c.5704G>C (p.Glu1902Gln)
c.4597G>C (p.Glu1533Gln)
c.8623G>C (p.Glu2875Gln)
c.4375G>C (p.Glu1459Gln)
c.7603G>C (p.Glu2535Gln)
8g.99819533G>TCA371776522VPS13Bc.8818G>T (p.Glu2940Ter)
n.8888G>T
c.*4500G>T (n.*4500G>T)
c.8743G>T (p.Glu2915Ter)
c.8815G>T (p.Glu2939Ter)
c.8740G>T (p.Glu2914Ter)
c.8440G>T (p.Glu2814Ter)
c.5704G>T (p.Glu1902Ter)
c.4597G>T (p.Glu1533Ter)
c.8623G>T (p.Glu2875Ter)
c.4375G>T (p.Glu1459Ter)
c.7603G>T (p.Glu2535Ter)
8g.99819534A>CCA371776524VPS13Bc.8819A>C (p.Glu2940Ala)
n.8889A>C
c.*4501A>C (n.*4501A>C)
c.8744A>C (p.Glu2915Ala)
c.8816A>C (p.Glu2939Ala)
c.8741A>C (p.Glu2914Ala)
c.8441A>C (p.Glu2814Ala)
c.5705A>C (p.Glu1902Ala)
c.4598A>C (p.Glu1533Ala)
c.8624A>C (p.Glu2875Ala)
c.4376A>C (p.Glu1459Ala)
c.7604A>C (p.Glu2535Ala)
8g.99819534A>GCA371776526VPS13Bc.8819A>G (p.Glu2940Gly)
n.8889A>G
c.*4501A>G (n.*4501A>G)
c.8744A>G (p.Glu2915Gly)
c.8816A>G (p.Glu2939Gly)
c.8741A>G (p.Glu2914Gly)
c.8441A>G (p.Glu2814Gly)
c.5705A>G (p.Glu1902Gly)
c.4598A>G (p.Glu1533Gly)
c.8624A>G (p.Glu2875Gly)
c.4376A>G (p.Glu1459Gly)
c.7604A>G (p.Glu2535Gly)
8g.99819534A>TCA371776528VPS13Bc.8819A>T (p.Glu2940Val)
n.8889A>T
c.*4501A>T (n.*4501A>T)
c.8744A>T (p.Glu2915Val)
c.8816A>T (p.Glu2939Val)
c.8741A>T (p.Glu2914Val)
c.8441A>T (p.Glu2814Val)
c.5705A>T (p.Glu1902Val)
c.4598A>T (p.Glu1533Val)
c.8624A>T (p.Glu2875Val)
c.4376A>T (p.Glu1459Val)
c.7604A>T (p.Glu2535Val)
8g.99819535A>CCA371776530VPS13Bc.8820A>C (p.Glu2940Asp)
n.8890A>C
c.*4502A>C (n.*4502A>C)
c.8745A>C (p.Glu2915Asp)
c.8817A>C (p.Glu2939Asp)
c.8742A>C (p.Glu2914Asp)
c.8442A>C (p.Glu2814Asp)
c.5706A>C (p.Glu1902Asp)
c.4599A>C (p.Glu1533Asp)
c.8625A>C (p.Glu2875Asp)
c.4377A>C (p.Glu1459Asp)
c.7605A>C (p.Glu2535Asp)
8g.99819535A>GCA462339514VPS13Bc.8820A>G (p.Glu2940=)
n.8890A>G
c.*4502A>G (n.*4502A>G)
c.8745A>G (p.Glu2915=)
c.8817A>G (p.Glu2939=)
c.8742A>G (p.Glu2914=)
c.8442A>G (p.Glu2814=)
c.5706A>G (p.Glu1902=)
c.4599A>G (p.Glu1533=)
c.8625A>G (p.Glu2875=)
c.4377A>G (p.Glu1459=)
c.7605A>G (p.Glu2535=)
 ClinVar gnomAD v4
8g.99819535A>TCA371776532VPS13Bc.8820A>T (p.Glu2940Asp)
n.8890A>T
c.*4502A>T (n.*4502A>T)
c.8745A>T (p.Glu2915Asp)
c.8817A>T (p.Glu2939Asp)
c.8742A>T (p.Glu2914Asp)
c.8442A>T (p.Glu2814Asp)
c.5706A>T (p.Glu1902Asp)
c.4599A>T (p.Glu1533Asp)
c.8625A>T (p.Glu2875Asp)
c.4377A>T (p.Glu1459Asp)
c.7605A>T (p.Glu2535Asp)
8g.99819536A>CCA371776534VPS13Bc.8821A>C (p.Lys2941Gln)
n.8891A>C
c.*4503A>C (n.*4503A>C)
c.8746A>C (p.Lys2916Gln)
c.8818A>C (p.Lys2940Gln)
c.8743A>C (p.Lys2915Gln)
c.8443A>C (p.Lys2815Gln)
c.5707A>C (p.Lys1903Gln)
c.4600A>C (p.Lys1534Gln)
c.8626A>C (p.Lys2876Gln)
c.4378A>C (p.Lys1460Gln)
c.7606A>C (p.Lys2536Gln)
8g.99819536A>GCA371776537VPS13Bc.8821A>G (p.Lys2941Glu)
n.8891A>G
c.*4503A>G (n.*4503A>G)
c.8746A>G (p.Lys2916Glu)
c.8818A>G (p.Lys2940Glu)
c.8743A>G (p.Lys2915Glu)
c.8443A>G (p.Lys2815Glu)
c.5707A>G (p.Lys1903Glu)
c.4600A>G (p.Lys1534Glu)
c.8626A>G (p.Lys2876Glu)
c.4378A>G (p.Lys1460Glu)
c.7606A>G (p.Lys2536Glu)
8g.99819536A>TCA371776535VPS13Bc.8821A>T (p.Lys2941Ter)
n.8891A>T
c.*4503A>T (n.*4503A>T)
c.8746A>T (p.Lys2916Ter)
c.8818A>T (p.Lys2940Ter)
c.8743A>T (p.Lys2915Ter)
c.8443A>T (p.Lys2815Ter)
c.5707A>T (p.Lys1903Ter)
c.4600A>T (p.Lys1534Ter)
c.8626A>T (p.Lys2876Ter)
c.4378A>T (p.Lys1460Ter)
c.7606A>T (p.Lys2536Ter)
8g.99819537A>CCA371776539VPS13Bc.8822A>C (p.Lys2941Thr)
n.8892A>C
c.*4504A>C (n.*4504A>C)
c.8747A>C (p.Lys2916Thr)
c.8819A>C (p.Lys2940Thr)
c.8744A>C (p.Lys2915Thr)
c.8444A>C (p.Lys2815Thr)
c.5708A>C (p.Lys1903Thr)
c.4601A>C (p.Lys1534Thr)
c.8627A>C (p.Lys2876Thr)
c.4379A>C (p.Lys1460Thr)
c.7607A>C (p.Lys2536Thr)
8g.99819537A>GCA371776541VPS13Bc.8822A>G (p.Lys2941Arg)
n.8892A>G
c.*4504A>G (n.*4504A>G)
c.8747A>G (p.Lys2916Arg)
c.8819A>G (p.Lys2940Arg)
c.8744A>G (p.Lys2915Arg)
c.8444A>G (p.Lys2815Arg)
c.5708A>G (p.Lys1903Arg)
c.4601A>G (p.Lys1534Arg)
c.8627A>G (p.Lys2876Arg)
c.4379A>G (p.Lys1460Arg)
c.7607A>G (p.Lys2536Arg)
8g.99819537A>TCA371776543VPS13Bc.8822A>T (p.Lys2941Met)
n.8892A>T
c.*4504A>T (n.*4504A>T)
c.8747A>T (p.Lys2916Met)
c.8819A>T (p.Lys2940Met)
c.8744A>T (p.Lys2915Met)
c.8444A>T (p.Lys2815Met)
c.5708A>T (p.Lys1903Met)
c.4601A>T (p.Lys1534Met)
c.8627A>T (p.Lys2876Met)
c.4379A>T (p.Lys1460Met)
c.7607A>T (p.Lys2536Met)
8g.99819538G>ACA462339515VPS13Bc.8823G>A (p.Lys2941=)
n.8893G>A
c.*4505G>A (n.*4505G>A)
c.8748G>A (p.Lys2916=)
c.8820G>A (p.Lys2940=)
c.8745G>A (p.Lys2915=)
c.8445G>A (p.Lys2815=)
c.5709G>A (p.Lys1903=)
c.4602G>A (p.Lys1534=)
c.8628G>A (p.Lys2876=)
c.4380G>A (p.Lys1460=)
c.7608G>A (p.Lys2536=)
8g.99819538G>CCA371776545VPS13Bc.8823G>C (p.Lys2941Asn)
n.8893G>C
c.*4505G>C (n.*4505G>C)
c.8748G>C (p.Lys2916Asn)
c.8820G>C (p.Lys2940Asn)
c.8745G>C (p.Lys2915Asn)
c.8445G>C (p.Lys2815Asn)
c.5709G>C (p.Lys1903Asn)
c.4602G>C (p.Lys1534Asn)
c.8628G>C (p.Lys2876Asn)
c.4380G>C (p.Lys1460Asn)
c.7608G>C (p.Lys2536Asn)
8g.99819538G>TCA371776547VPS13Bc.8823G>T (p.Lys2941Asn)
n.8893G>T
c.*4505G>T (n.*4505G>T)
c.8748G>T (p.Lys2916Asn)
c.8820G>T (p.Lys2940Asn)
c.8745G>T (p.Lys2915Asn)
c.8445G>T (p.Lys2815Asn)
c.5709G>T (p.Lys1903Asn)
c.4602G>T (p.Lys1534Asn)
c.8628G>T (p.Lys2876Asn)
c.4380G>T (p.Lys1460Asn)
c.7608G>T (p.Lys2536Asn)
8g.99819539T>ACA371776549VPS13Bc.8824T>A (p.Ser2942Thr)
n.8894T>A
c.*4506T>A (n.*4506T>A)
c.8749T>A (p.Ser2917Thr)
c.8821T>A (p.Ser2941Thr)
c.8746T>A (p.Ser2916Thr)
c.8446T>A (p.Ser2816Thr)
c.5710T>A (p.Ser1904Thr)
c.4603T>A (p.Ser1535Thr)
c.8629T>A (p.Ser2877Thr)
c.4381T>A (p.Ser1461Thr)
c.7609T>A (p.Ser2537Thr)
8g.99819539T>CCA371776551VPS13Bc.8824T>C (p.Ser2942Pro)
n.8894T>C
c.*4506T>C (n.*4506T>C)
c.8749T>C (p.Ser2917Pro)
c.8821T>C (p.Ser2941Pro)
c.8746T>C (p.Ser2916Pro)
c.8446T>C (p.Ser2816Pro)
c.5710T>C (p.Ser1904Pro)
c.4603T>C (p.Ser1535Pro)
c.8629T>C (p.Ser2877Pro)
c.4381T>C (p.Ser1461Pro)
c.7609T>C (p.Ser2537Pro)
8g.99819539T>GCA371776553VPS13Bc.8824T>G (p.Ser2942Ala)
n.8894T>G
c.*4506T>G (n.*4506T>G)
c.8749T>G (p.Ser2917Ala)
c.8821T>G (p.Ser2941Ala)
c.8746T>G (p.Ser2916Ala)
c.8446T>G (p.Ser2816Ala)
c.5710T>G (p.Ser1904Ala)
c.4603T>G (p.Ser1535Ala)
c.8629T>G (p.Ser2877Ala)
c.4381T>G (p.Ser1461Ala)
c.7609T>G (p.Ser2537Ala)
8g.99819540C>ACA371776554VPS13Bc.8825C>A (p.Ser2942Ter)
n.8895C>A
c.*4507C>A (n.*4507C>A)
c.8750C>A (p.Ser2917Ter)
c.8822C>A (p.Ser2941Ter)
c.8747C>A (p.Ser2916Ter)
c.8447C>A (p.Ser2816Ter)
c.5711C>A (p.Ser1904Ter)
c.4604C>A (p.Ser1535Ter)
c.8630C>A (p.Ser2877Ter)
c.4382C>A (p.Ser1461Ter)
c.7610C>A (p.Ser2537Ter)
 ClinVar gnomAD v4
8g.99819540C>GCA371776555VPS13Bc.8825C>G (p.Ser2942Trp)
n.8895C>G
c.*4507C>G (n.*4507C>G)
c.8750C>G (p.Ser2917Trp)
c.8822C>G (p.Ser2941Trp)
c.8747C>G (p.Ser2916Trp)
c.8447C>G (p.Ser2816Trp)
c.5711C>G (p.Ser1904Trp)
c.4604C>G (p.Ser1535Trp)
c.8630C>G (p.Ser2877Trp)
c.4382C>G (p.Ser1461Trp)
c.7610C>G (p.Ser2537Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819540C>TCA4824537VPS13Bc.8825C>T (p.Ser2942Leu)
n.8895C>T
c.*4507C>T (n.*4507C>T)
c.8750C>T (p.Ser2917Leu)
c.8822C>T (p.Ser2941Leu)
c.8747C>T (p.Ser2916Leu)
c.8447C>T (p.Ser2816Leu)
c.5711C>T (p.Ser1904Leu)
c.4604C>T (p.Ser1535Leu)
c.8630C>T (p.Ser2877Leu)
c.4382C>T (p.Ser1461Leu)
c.7610C>T (p.Ser2537Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819541G>ACA4824538VPS13Bc.8826G>A (p.Ser2942=)
n.8896G>A
c.*4508G>A (n.*4508G>A)
c.8751G>A (p.Ser2917=)
c.8823G>A (p.Ser2941=)
c.8748G>A (p.Ser2916=)
c.8448G>A (p.Ser2816=)
c.5712G>A (p.Ser1904=)
c.4605G>A (p.Ser1535=)
c.8631G>A (p.Ser2877=)
c.4383G>A (p.Ser1461=)
c.7611G>A (p.Ser2537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99819541G>CCA462339516VPS13Bc.8826G>C (p.Ser2942=)
n.8896G>C
c.*4508G>C (n.*4508G>C)
c.8751G>C (p.Ser2917=)
c.8823G>C (p.Ser2941=)
c.8748G>C (p.Ser2916=)
c.8448G>C (p.Ser2816=)
c.5712G>C (p.Ser1904=)
c.4605G>C (p.Ser1535=)
c.8631G>C (p.Ser2877=)
c.4383G>C (p.Ser1461=)
c.7611G>C (p.Ser2537=)
8g.99819541G>TCA462339517VPS13Bc.8826G>T (p.Ser2942=)
n.8896G>T
c.*4508G>T (n.*4508G>T)
c.8751G>T (p.Ser2917=)
c.8823G>T (p.Ser2941=)
c.8748G>T (p.Ser2916=)
c.8448G>T (p.Ser2816=)
c.5712G>T (p.Ser1904=)
c.4605G>T (p.Ser1535=)
c.8631G>T (p.Ser2877=)
c.4383G>T (p.Ser1461=)
c.7611G>T (p.Ser2537=)
 ClinVar dbSNP gnomAD v4
8g.99819542C>ACA371776562VPS13Bc.8827C>A (p.Leu2943Ile)
n.8897C>A
c.*4509C>A (n.*4509C>A)
c.8752C>A (p.Leu2918Ile)
c.8824C>A (p.Leu2942Ile)
c.8749C>A (p.Leu2917Ile)
c.8449C>A (p.Leu2817Ile)
c.5713C>A (p.Leu1905Ile)
c.4606C>A (p.Leu1536Ile)
c.8632C>A (p.Leu2878Ile)
c.4384C>A (p.Leu1462Ile)
c.7612C>A (p.Leu2538Ile)
8g.99819542C>GCA371776559VPS13Bc.8827C>G (p.Leu2943Val)
n.8897C>G
c.*4509C>G (n.*4509C>G)
c.8752C>G (p.Leu2918Val)
c.8824C>G (p.Leu2942Val)
c.8749C>G (p.Leu2917Val)
c.8449C>G (p.Leu2817Val)
c.5713C>G (p.Leu1905Val)
c.4606C>G (p.Leu1536Val)
c.8632C>G (p.Leu2878Val)
c.4384C>G (p.Leu1462Val)
c.7612C>G (p.Leu2538Val)
8g.99819542C>TCA371776560VPS13Bc.8827C>T (p.Leu2943Phe)
n.8897C>T
c.*4509C>T (n.*4509C>T)
c.8752C>T (p.Leu2918Phe)
c.8824C>T (p.Leu2942Phe)
c.8749C>T (p.Leu2917Phe)
c.8449C>T (p.Leu2817Phe)
c.5713C>T (p.Leu1905Phe)
c.4606C>T (p.Leu1536Phe)
c.8632C>T (p.Leu2878Phe)
c.4384C>T (p.Leu1462Phe)
c.7612C>T (p.Leu2538Phe)
 dbSNP
8g.99819543T>ACA371776565VPS13Bc.8828T>A (p.Leu2943His)
n.8898T>A
c.*4510T>A (n.*4510T>A)
c.8753T>A (p.Leu2918His)
c.8825T>A (p.Leu2942His)
c.8750T>A (p.Leu2917His)
c.8450T>A (p.Leu2817His)
c.5714T>A (p.Leu1905His)
c.4607T>A (p.Leu1536His)
c.8633T>A (p.Leu2878His)
c.4385T>A (p.Leu1462His)
c.7613T>A (p.Leu2538His)
8g.99819543T>CCA371776566VPS13Bc.8828T>C (p.Leu2943Pro)
n.8898T>C
c.*4510T>C (n.*4510T>C)
c.8753T>C (p.Leu2918Pro)
c.8825T>C (p.Leu2942Pro)
c.8750T>C (p.Leu2917Pro)
c.8450T>C (p.Leu2817Pro)
c.5714T>C (p.Leu1905Pro)
c.4607T>C (p.Leu1536Pro)
c.8633T>C (p.Leu2878Pro)
c.4385T>C (p.Leu1462Pro)
c.7613T>C (p.Leu2538Pro)
8g.99819543T>GCA371776568VPS13Bc.8828T>G (p.Leu2943Arg)
n.8898T>G
c.*4510T>G (n.*4510T>G)
c.8753T>G (p.Leu2918Arg)
c.8825T>G (p.Leu2942Arg)
c.8750T>G (p.Leu2917Arg)
c.8450T>G (p.Leu2817Arg)
c.5714T>G (p.Leu1905Arg)
c.4607T>G (p.Leu1536Arg)
c.8633T>G (p.Leu2878Arg)
c.4385T>G (p.Leu1462Arg)
c.7613T>G (p.Leu2538Arg)
8g.99819544T>ACA462339518VPS13Bc.8829T>A (p.Leu2943=)
n.8899T>A
c.*4511T>A (n.*4511T>A)
c.8754T>A (p.Leu2918=)
c.8826T>A (p.Leu2942=)
c.8751T>A (p.Leu2917=)
c.8451T>A (p.Leu2817=)
c.5715T>A (p.Leu1905=)
c.4608T>A (p.Leu1536=)
c.8634T>A (p.Leu2878=)
c.4386T>A (p.Leu1462=)
c.7614T>A (p.Leu2538=)
8g.99819544T>CCA462339519VPS13Bc.8829T>C (p.Leu2943=)
n.8899T>C
c.*4511T>C (n.*4511T>C)
c.8754T>C (p.Leu2918=)
c.8826T>C (p.Leu2942=)
c.8751T>C (p.Leu2917=)
c.8451T>C (p.Leu2817=)
c.5715T>C (p.Leu1905=)
c.4608T>C (p.Leu1536=)
c.8634T>C (p.Leu2878=)
c.4386T>C (p.Leu1462=)
c.7614T>C (p.Leu2538=)
8g.99819544T>GCA462339520VPS13Bc.8829T>G (p.Leu2943=)
n.8899T>G
c.*4511T>G (n.*4511T>G)
c.8754T>G (p.Leu2918=)
c.8826T>G (p.Leu2942=)
c.8751T>G (p.Leu2917=)
c.8451T>G (p.Leu2817=)
c.5715T>G (p.Leu1905=)
c.4608T>G (p.Leu1536=)
c.8634T>G (p.Leu2878=)
c.4386T>G (p.Leu1462=)
c.7614T>G (p.Leu2538=)
8g.99819545C>ACA371776571VPS13Bc.8830C>A (p.Gln2944Lys)
n.8900C>A
c.*4512C>A (n.*4512C>A)
c.8755C>A (p.Gln2919Lys)
c.8827C>A (p.Gln2943Lys)
c.8752C>A (p.Gln2918Lys)
c.8452C>A (p.Gln2818Lys)
c.5716C>A (p.Gln1906Lys)
c.4609C>A (p.Gln1537Lys)
c.8635C>A (p.Gln2879Lys)
c.4387C>A (p.Gln1463Lys)
c.7615C>A (p.Gln2539Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99819545C>GCA371776572VPS13Bc.8830C>G (p.Gln2944Glu)
n.8900C>G
c.*4512C>G (n.*4512C>G)
c.8755C>G (p.Gln2919Glu)
c.8827C>G (p.Gln2943Glu)
c.8752C>G (p.Gln2918Glu)
c.8452C>G (p.Gln2818Glu)
c.5716C>G (p.Gln1906Glu)
c.4609C>G (p.Gln1537Glu)
c.8635C>G (p.Gln2879Glu)
c.4387C>G (p.Gln1463Glu)
c.7615C>G (p.Gln2539Glu)
8g.99819545C>TCA371776573VPS13Bc.8830C>T (p.Gln2944Ter)
n.8900C>T
c.*4512C>T (n.*4512C>T)
c.8755C>T (p.Gln2919Ter)
c.8827C>T (p.Gln2943Ter)
c.8752C>T (p.Gln2918Ter)
c.8452C>T (p.Gln2818Ter)
c.5716C>T (p.Gln1906Ter)
c.4609C>T (p.Gln1537Ter)
c.8635C>T (p.Gln2879Ter)
c.4387C>T (p.Gln1463Ter)
c.7615C>T (p.Gln2539Ter)
8g.99819546A>CCA371776575VPS13Bc.8831A>C (p.Gln2944Pro)
n.8901A>C
c.*4513A>C (n.*4513A>C)
c.8756A>C (p.Gln2919Pro)
c.8828A>C (p.Gln2943Pro)
c.8753A>C (p.Gln2918Pro)
c.8453A>C (p.Gln2818Pro)
c.5717A>C (p.Gln1906Pro)
c.4610A>C (p.Gln1537Pro)
c.8636A>C (p.Gln2879Pro)
c.4388A>C (p.Gln1463Pro)
c.7616A>C (p.Gln2539Pro)
8g.99819546A>GCA182328759VPS13Bc.8831A>G (p.Gln2944Arg)
n.8901A>G
c.*4513A>G (n.*4513A>G)
c.8756A>G (p.Gln2919Arg)
c.8828A>G (p.Gln2943Arg)
c.8753A>G (p.Gln2918Arg)
c.8453A>G (p.Gln2818Arg)
c.5717A>G (p.Gln1906Arg)
c.4610A>G (p.Gln1537Arg)
c.8636A>G (p.Gln2879Arg)
c.4388A>G (p.Gln1463Arg)
c.7616A>G (p.Gln2539Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819546A>TCA371776577VPS13Bc.8831A>T (p.Gln2944Leu)
n.8901A>T
c.*4513A>T (n.*4513A>T)
c.8756A>T (p.Gln2919Leu)
c.8828A>T (p.Gln2943Leu)
c.8753A>T (p.Gln2918Leu)
c.8453A>T (p.Gln2818Leu)
c.5717A>T (p.Gln1906Leu)
c.4610A>T (p.Gln1537Leu)
c.8636A>T (p.Gln2879Leu)
c.4388A>T (p.Gln1463Leu)
c.7616A>T (p.Gln2539Leu)
8g.99819547A>CCA371776578VPS13Bc.8832A>C (p.Gln2944His)
n.8902A>C
c.*4514A>C (n.*4514A>C)
c.8757A>C (p.Gln2919His)
c.8829A>C (p.Gln2943His)
c.8754A>C (p.Gln2918His)
c.8454A>C (p.Gln2818His)
c.5718A>C (p.Gln1906His)
c.4611A>C (p.Gln1537His)
c.8637A>C (p.Gln2879His)
c.4389A>C (p.Gln1463His)
c.7617A>C (p.Gln2539His)
8g.99819547A>GCA462339521VPS13Bc.8832A>G (p.Gln2944=)
n.8902A>G
c.*4514A>G (n.*4514A>G)
c.8757A>G (p.Gln2919=)
c.8829A>G (p.Gln2943=)
c.8754A>G (p.Gln2918=)
c.8454A>G (p.Gln2818=)
c.5718A>G (p.Gln1906=)
c.4611A>G (p.Gln1537=)
c.8637A>G (p.Gln2879=)
c.4389A>G (p.Gln1463=)
c.7617A>G (p.Gln2539=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99819547A>TCA371776580VPS13Bc.8832A>T (p.Gln2944His)
n.8902A>T
c.*4514A>T (n.*4514A>T)
c.8757A>T (p.Gln2919His)
c.8829A>T (p.Gln2943His)
c.8754A>T (p.Gln2918His)
c.8454A>T (p.Gln2818His)
c.5718A>T (p.Gln1906His)
c.4611A>T (p.Gln1537His)
c.8637A>T (p.Gln2879His)
c.4389A>T (p.Gln1463His)
c.7617A>T (p.Gln2539His)
8g.99819548C>ACA371776584VPS13Bc.8833C>A (p.Pro2945Thr)
n.8903C>A
c.*4515C>A (n.*4515C>A)
c.8758C>A (p.Pro2920Thr)
c.8830C>A (p.Pro2944Thr)
c.8755C>A (p.Pro2919Thr)
c.8455C>A (p.Pro2819Thr)
c.5719C>A (p.Pro1907Thr)
c.4612C>A (p.Pro1538Thr)
c.8638C>A (p.Pro2880Thr)
c.4390C>A (p.Pro1464Thr)
c.7618C>A (p.Pro2540Thr)
8g.99819548C>GCA371776582VPS13Bc.8833C>G (p.Pro2945Ala)
n.8903C>G
c.*4515C>G (n.*4515C>G)
c.8758C>G (p.Pro2920Ala)
c.8830C>G (p.Pro2944Ala)
c.8755C>G (p.Pro2919Ala)
c.8455C>G (p.Pro2819Ala)
c.5719C>G (p.Pro1907Ala)
c.4612C>G (p.Pro1538Ala)
c.8638C>G (p.Pro2880Ala)
c.4390C>G (p.Pro1464Ala)
c.7618C>G (p.Pro2540Ala)
8g.99819548C>TCA371776581VPS13Bc.8833C>T (p.Pro2945Ser)
n.8903C>T
c.*4515C>T (n.*4515C>T)
c.8758C>T (p.Pro2920Ser)
c.8830C>T (p.Pro2944Ser)
c.8755C>T (p.Pro2919Ser)
c.8455C>T (p.Pro2819Ser)
c.5719C>T (p.Pro1907Ser)
c.4612C>T (p.Pro1538Ser)
c.8638C>T (p.Pro2880Ser)
c.4390C>T (p.Pro1464Ser)
c.7618C>T (p.Pro2540Ser)
 ClinVar dbSNP gnomAD v4
8g.99819548_99819549insGAACA4824539VPS13Bc.8833_8834insGAA (p.Pro2945delinsArgThr)
n.8903_8904insGAA
c.*4515_*4516insGAA (n.*4515_*4516insGAA)
c.8758_8759insGAA (p.Pro2920delinsArgThr)
c.8830_8831insGAA (p.Pro2944delinsArgThr)
c.8755_8756insGAA (p.Pro2919delinsArgThr)
c.8455_8456insGAA (p.Pro2819delinsArgThr)
c.5719_5720insGAA (p.Pro1907delinsArgThr)
c.4612_4613insGAA (p.Pro1538delinsArgThr)
c.8638_8639insGAA (p.Pro2880delinsArgThr)
c.4390_4391insGAA (p.Pro1464delinsArgThr)
c.7618_7619insGAA (p.Pro2540delinsArgThr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99819549C>ACA371776587VPS13Bc.8834C>A (p.Pro2945His)
n.8904C>A
c.*4516C>A (n.*4516C>A)
c.8759C>A (p.Pro2920His)
c.8831C>A (p.Pro2944His)
c.8756C>A (p.Pro2919His)
c.8456C>A (p.Pro2819His)
c.5720C>A (p.Pro1907His)
c.4613C>A (p.Pro1538His)
c.8639C>A (p.Pro2880His)
c.4391C>A (p.Pro1464His)
c.7619C>A (p.Pro2540His)
8g.99819549C>GCA371776592VPS13Bc.8834C>G (p.Pro2945Arg)
n.8904C>G
c.*4516C>G (n.*4516C>G)
c.8759C>G (p.Pro2920Arg)
c.8831C>G (p.Pro2944Arg)
c.8756C>G (p.Pro2919Arg)
c.8456C>G (p.Pro2819Arg)
c.5720C>G (p.Pro1907Arg)
c.4613C>G (p.Pro1538Arg)
c.8639C>G (p.Pro2880Arg)
c.4391C>G (p.Pro1464Arg)
c.7619C>G (p.Pro2540Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.99819549C>TCA371776590VPS13Bc.8834C>T (p.Pro2945Leu)
n.8904C>T
c.*4516C>T (n.*4516C>T)
c.8759C>T (p.Pro2920Leu)
c.8831C>T (p.Pro2944Leu)
c.8756C>T (p.Pro2919Leu)
c.8456C>T (p.Pro2819Leu)
c.5720C>T (p.Pro1907Leu)
c.4613C>T (p.Pro1538Leu)
c.8639C>T (p.Pro2880Leu)
c.4391C>T (p.Pro1464Leu)
c.7619C>T (p.Pro2540Leu)

Number of alleles fetched