Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21391492C>ACA388877047CHD8c.6199G>T (p.Glu2067Ter)
c.437+341G>T
c.4736G>T
c.7036G>T (p.Glu2346Ter)
n.6192G>T
c.396+341G>T (n.396+341G>T)
n.704C>A
 dbSNP
14g.21391492C=CA2122503266CHD8c.6199G= (p.Glu2067=)
c.437+341G=
c.4736G=
c.7036G= (p.Glu2346=)
n.6192G=
c.396+341G= (n.396+341G=)
n.704C=
14g.21391492C>GCA388877048CHD8c.6199G>C (p.Glu2067Gln)
c.437+341G>C
c.4736G>C
c.7036G>C (p.Glu2346Gln)
n.6192G>C
c.396+341G>C (n.396+341G>C)
n.704C>G
14g.21391492C>TCA244769CHD8c.6199G>A (p.Glu2067Lys)
c.437+341G>A
c.4736G>A
c.7036G>A (p.Glu2346Lys)
n.6192G>A
c.396+341G>A (n.396+341G>A)
n.704C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21391493T>ACA484999774CHD8c.6198A>T (p.Pro2066=)
c.437+340A>T
c.4735A>T
c.7035A>T (p.Pro2345=)
n.6191A>T
c.396+340A>T (n.396+340A>T)
n.705T>A
14g.21391493T>CCA484999775CHD8c.6198A>G (p.Pro2066=)
c.437+340A>G
c.4735A>G
c.7035A>G (p.Pro2345=)
n.6191A>G
c.396+340A>G (n.396+340A>G)
n.705T>C
 gnomAD v4
14g.21391493T>GCA484999776CHD8c.6198A>C (p.Pro2066=)
c.437+340A>C
c.4735A>C
c.7035A>C (p.Pro2345=)
n.6191A>C
c.396+340A>C (n.396+340A>C)
n.705T>G
14g.21391494G>ACA388877049CHD8c.6197C>T (p.Pro2066Leu)
c.437+339C>T
c.4734C>T
c.7034C>T (p.Pro2345Leu)
n.6190C>T
c.396+339C>T (n.396+339C>T)
n.706G>A
14g.21391494G>CCA388877050CHD8c.6197C>G (p.Pro2066Arg)
c.437+339C>G
c.4734C>G
c.7034C>G (p.Pro2345Arg)
n.6190C>G
c.396+339C>G (n.396+339C>G)
n.706G>C
14g.21391494G>TCA388877051CHD8c.6197C>A (p.Pro2066Gln)
c.437+339C>A
c.4734C>A
c.7034C>A (p.Pro2345Gln)
n.6190C>A
c.396+339C>A (n.396+339C>A)
n.706G>T
14g.21391495G>ACA388877052CHD8c.6196C>T (p.Pro2066Ser)
c.437+338C>T
c.4733C>T
c.7033C>T (p.Pro2345Ser)
n.6189C>T
c.396+338C>T (n.396+338C>T)
n.707G>A
14g.21391495G>CCA388877053CHD8c.6196C>G (p.Pro2066Ala)
c.437+338C>G
c.4733C>G
c.7033C>G (p.Pro2345Ala)
n.6189C>G
c.396+338C>G (n.396+338C>G)
n.707G>C
14g.21391495G=CA2122503271CHD8c.6196C= (p.Pro2066=)
c.437+338C=
c.4733C=
c.7033C= (p.Pro2345=)
n.6189C=
c.396+338C= (n.396+338C=)
n.707G=
14g.21391495G>TCA7090624CHD8c.6196C>A (p.Pro2066Thr)
c.437+338C>A
c.4733C>A
c.7033C>A (p.Pro2345Thr)
n.6189C>A
c.396+338C>A (n.396+338C>A)
n.707G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391496A>CCA388877054CHD8c.6195T>G (p.His2065Gln)
c.437+337T>G
c.4732T>G
c.7032T>G (p.His2344Gln)
n.6188T>G
c.396+337T>G (n.396+337T>G)
n.708A>C
14g.21391496A>GCA484999777CHD8c.6195T>C (p.His2065=)
c.437+337T>C
c.4732T>C
c.7032T>C (p.His2344=)
n.6188T>C
c.396+337T>C (n.396+337T>C)
n.708A>G
14g.21391496A>TCA388877055CHD8c.6195T>A (p.His2065Gln)
c.437+337T>A
c.4732T>A
c.7032T>A (p.His2344Gln)
n.6188T>A
c.396+337T>A (n.396+337T>A)
n.708A>T
14g.21391497T>ACA388877056CHD8c.6194A>T (p.His2065Leu)
c.437+336A>T
c.4731A>T
c.7031A>T (p.His2344Leu)
n.6187A>T
c.396+336A>T (n.396+336A>T)
n.709T>A
14g.21391497T>CCA7090625CHD8c.6194A>G (p.His2065Arg)
c.437+336A>G
c.4731A>G
c.7031A>G (p.His2344Arg)
n.6187A>G
c.396+336A>G (n.396+336A>G)
n.709T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391497T>GCA388877057CHD8c.6194A>C (p.His2065Pro)
c.437+336A>C
c.4731A>C
c.7031A>C (p.His2344Pro)
n.6187A>C
c.396+336A>C (n.396+336A>C)
n.709T>G
14g.21391497T=CA2122503276CHD8c.6194A= (p.His2065=)
c.437+336A=
c.4731A=
c.7031A= (p.His2344=)
n.6187A=
c.396+336A= (n.396+336A=)
n.709T=
14g.21391498G>ACA388877059CHD8c.6193C>T (p.His2065Tyr)
c.437+335C>T
c.4730C>T
c.7030C>T (p.His2344Tyr)
n.6186C>T
c.396+335C>T (n.396+335C>T)
n.710G>A
14g.21391498G>CCA388877060CHD8c.6193C>G (p.His2065Asp)
c.437+335C>G
c.4730C>G
c.7030C>G (p.His2344Asp)
n.6186C>G
c.396+335C>G (n.396+335C>G)
n.710G>C
14g.21391498G>TCA388877058CHD8c.6193C>A (p.His2065Asn)
c.437+335C>A
c.4730C>A
c.7030C>A (p.His2344Asn)
n.6186C>A
c.396+335C>A (n.396+335C>A)
n.710G>T
14g.21391499A=CA2122503280CHD8c.6192T= (p.Gly2064=)
c.437+334T=
c.4729T=
c.7029T= (p.Gly2343=)
n.6185T=
c.396+334T= (n.396+334T=)
n.711A=
14g.21391499A>CCA484999780CHD8c.6192T>G (p.Gly2064=)
c.437+334T>G
c.4729T>G
c.7029T>G (p.Gly2343=)
n.6185T>G
c.396+334T>G (n.396+334T>G)
n.711A>C
 dbSNP
14g.21391499A>GCA484999778CHD8c.6192T>C (p.Gly2064=)
c.437+334T>C
c.4729T>C
c.7029T>C (p.Gly2343=)
n.6185T>C
c.396+334T>C (n.396+334T>C)
n.711A>G
14g.21391499A>TCA484999779CHD8c.6192T>A (p.Gly2064=)
c.437+334T>A
c.4729T>A
c.7029T>A (p.Gly2343=)
n.6185T>A
c.396+334T>A (n.396+334T>A)
n.711A>T
14g.21391500C>ACA388877061CHD8c.6191G>T (p.Gly2064Val)
c.437+333G>T
c.4728G>T
c.7028G>T (p.Gly2343Val)
n.6184G>T
c.396+333G>T (n.396+333G>T)
n.712C>A
14g.21391500C>GCA388877062CHD8c.6191G>C (p.Gly2064Ala)
c.437+333G>C
c.4728G>C
c.7028G>C (p.Gly2343Ala)
n.6184G>C
c.396+333G>C (n.396+333G>C)
n.712C>G
14g.21391500C>TCA388877063CHD8c.6191G>A (p.Gly2064Asp)
c.437+333G>A
c.4728G>A
c.7028G>A (p.Gly2343Asp)
n.6184G>A
c.396+333G>A (n.396+333G>A)
n.712C>T
14g.21391501C>ACA388877064CHD8c.6190G>T (p.Gly2064Cys)
c.437+332G>T
c.4727G>T
c.7027G>T (p.Gly2343Cys)
n.6183G>T
c.396+332G>T (n.396+332G>T)
n.713C>A
14g.21391501C>GCA388877065CHD8c.6190G>C (p.Gly2064Arg)
c.437+332G>C
c.4727G>C
c.7027G>C (p.Gly2343Arg)
n.6183G>C
c.396+332G>C (n.396+332G>C)
n.713C>G
14g.21391501C>TCA388877066CHD8c.6190G>A (p.Gly2064Ser)
c.437+332G>A
c.4727G>A
c.7027G>A (p.Gly2343Ser)
n.6183G>A
c.396+332G>A (n.396+332G>A)
n.713C>T
14g.21391502C>ACA388877067CHD8c.6189G>T (p.Gln2063His)
c.437+331G>T
c.4726G>T
c.7026G>T (p.Gln2342His)
n.6182G>T
c.396+331G>T (n.396+331G>T)
n.714C>A
 dbSNP
14g.21391502C>GCA388877068CHD8c.6189G>C (p.Gln2063His)
c.437+331G>C
c.4726G>C
c.7026G>C (p.Gln2342His)
n.6182G>C
c.396+331G>C (n.396+331G>C)
n.714C>G
14g.21391502C>TCA484999781CHD8c.6189G>A (p.Gln2063=)
c.437+331G>A
c.4726G>A
c.7026G>A (p.Gln2342=)
n.6182G>A
c.396+331G>A (n.396+331G>A)
n.714C>T
14g.21391503T>ACA388877069CHD8c.6188A>T (p.Gln2063Leu)
c.437+330A>T
c.4725A>T
c.7025A>T (p.Gln2342Leu)
n.6181A>T
c.396+330A>T (n.396+330A>T)
n.715T>A
14g.21391503T>CCA388877070CHD8c.6188A>G (p.Gln2063Arg)
c.437+330A>G
c.4725A>G
c.7025A>G (p.Gln2342Arg)
n.6181A>G
c.396+330A>G (n.396+330A>G)
n.715T>C
 gnomAD v4
14g.21391503T>GCA388877071CHD8c.6188A>C (p.Gln2063Pro)
c.437+330A>C
c.4725A>C
c.7025A>C (p.Gln2342Pro)
n.6181A>C
c.396+330A>C (n.396+330A>C)
n.715T>G
14g.21391504G>ACA388877074CHD8c.6187C>T (p.Gln2063Ter)
c.437+329C>T
c.4724C>T
c.7024C>T (p.Gln2342Ter)
n.6180C>T
c.396+329C>T (n.396+329C>T)
n.716G>A
 dbSNP
14g.21391504G>CCA388877073CHD8c.6187C>G (p.Gln2063Glu)
c.437+329C>G
c.4724C>G
c.7024C>G (p.Gln2342Glu)
n.6180C>G
c.396+329C>G (n.396+329C>G)
n.716G>C
14g.21391504G=CA2122503285CHD8c.6187C= (p.Gln2063=)
c.437+329C=
c.4724C=
c.7024C= (p.Gln2342=)
n.6180C=
c.396+329C= (n.396+329C=)
n.716G=
14g.21391504G>TCA388877072CHD8c.6187C>A (p.Gln2063Lys)
c.437+329C>A
c.4724C>A
c.7024C>A (p.Gln2342Lys)
n.6180C>A
c.396+329C>A (n.396+329C>A)
n.716G>T
14g.21391505T>ACA388877075CHD8c.6186A>T (p.Leu2062Phe)
c.437+328A>T
c.4723A>T
c.7023A>T (p.Leu2341Phe)
n.6179A>T
c.396+328A>T (n.396+328A>T)
n.717T>A
14g.21391505T>CCA484999782CHD8c.6186A>G (p.Leu2062=)
c.437+328A>G
c.4723A>G
c.7023A>G (p.Leu2341=)
n.6179A>G
c.396+328A>G (n.396+328A>G)
n.717T>C
 dbSNP
14g.21391505T>GCA388877076CHD8c.6186A>C (p.Leu2062Phe)
c.437+328A>C
c.4723A>C
c.7023A>C (p.Leu2341Phe)
n.6179A>C
c.396+328A>C (n.396+328A>C)
n.717T>G
14g.21391505T=CA2122503291CHD8c.6186A= (p.Leu2062=)
c.437+328A=
c.4723A=
c.7023A= (p.Leu2341=)
n.6179A=
c.396+328A= (n.396+328A=)
n.717T=
14g.21391506A>CCA388877077CHD8c.6185T>G (p.Leu2062Ter)
c.437+327T>G
c.4722T>G
c.7022T>G (p.Leu2341Ter)
n.6178T>G
c.396+327T>G (n.396+327T>G)
n.718A>C
14g.21391506A>GCA388877078CHD8c.6185T>C (p.Leu2062Ser)
c.437+327T>C
c.4722T>C
c.7022T>C (p.Leu2341Ser)
n.6178T>C
c.396+327T>C (n.396+327T>C)
n.718A>G
14g.21391506A>TCA388877079CHD8c.6185T>A (p.Leu2062Ter)
c.437+327T>A
c.4722T>A
c.7022T>A (p.Leu2341Ter)
n.6178T>A
c.396+327T>A (n.396+327T>A)
n.718A>T
14g.21391507A>CCA388877080CHD8c.6184T>G (p.Leu2062Val)
c.437+326T>G
c.4721T>G
c.7021T>G (p.Leu2341Val)
n.6177T>G
c.396+326T>G (n.396+326T>G)
n.719A>C
14g.21391507A>GCA484999783CHD8c.6184T>C (p.Leu2062=)
c.437+326T>C
c.4721T>C
c.7021T>C (p.Leu2341=)
n.6177T>C
c.396+326T>C (n.396+326T>C)
n.719A>G
14g.21391507A>TCA388877081CHD8c.6184T>A (p.Leu2062Ile)
c.437+326T>A
c.4721T>A
c.7021T>A (p.Leu2341Ile)
n.6177T>A
c.396+326T>A (n.396+326T>A)
n.719A>T
14g.21391508C>ACA388877082CHD8c.6183G>T (p.Trp2061Cys)
c.437+325G>T
c.4720G>T
c.7020G>T (p.Trp2340Cys)
n.6176G>T
c.396+325G>T (n.396+325G>T)
n.720C>A
14g.21391508C=CA2122503297CHD8c.6183G= (p.Trp2061=)
c.437+325G=
c.4720G=
c.7020G= (p.Trp2340=)
n.6176G=
c.396+325G= (n.396+325G=)
n.720C=
14g.21391508C>GCA388877083CHD8c.6183G>C (p.Trp2061Cys)
c.437+325G>C
c.4720G>C
c.7020G>C (p.Trp2340Cys)
n.6176G>C
c.396+325G>C (n.396+325G>C)
n.720C>G
14g.21391508C>TCA388877084CHD8c.6183G>A (p.Trp2061Ter)
c.437+325G>A
c.4720G>A
c.7020G>A (p.Trp2340Ter)
n.6176G>A
c.396+325G>A (n.396+325G>A)
n.720C>T
 dbSNP
14g.21391509C>ACA388877085CHD8c.6182G>T (p.Trp2061Leu)
c.437+324G>T
c.4719G>T
c.7019G>T (p.Trp2340Leu)
n.6175G>T
c.396+324G>T (n.396+324G>T)
n.721C>A
14g.21391509C=CA2122503299CHD8c.6182G= (p.Trp2061=)
c.437+324G=
c.4719G=
c.7019G= (p.Trp2340=)
n.6175G=
c.396+324G= (n.396+324G=)
n.721C=
14g.21391509C>GCA388877086CHD8c.6182G>C (p.Trp2061Ser)
c.437+324G>C
c.4719G>C
c.7019G>C (p.Trp2340Ser)
n.6175G>C
c.396+324G>C (n.396+324G>C)
n.721C>G
14g.21391509C>TCA388877087CHD8c.6182G>A (p.Trp2061Ter)
c.437+324G>A
c.4719G>A
c.7019G>A (p.Trp2340Ter)
n.6175G>A
c.396+324G>A (n.396+324G>A)
n.721C>T
 dbSNP
14g.21391510A>CCA388877089CHD8c.6181T>G (p.Trp2061Gly)
c.437+323T>G
c.4718T>G
c.7018T>G (p.Trp2340Gly)
n.6174T>G
c.396+323T>G (n.396+323T>G)
n.722A>C
14g.21391510A>GCA388877090CHD8c.6181T>C (p.Trp2061Arg)
c.437+323T>C
c.4718T>C
c.7018T>C (p.Trp2340Arg)
n.6174T>C
c.396+323T>C (n.396+323T>C)
n.722A>G
14g.21391510A>TCA388877088CHD8c.6181T>A (p.Trp2061Arg)
c.437+323T>A
c.4718T>A
c.7018T>A (p.Trp2340Arg)
n.6174T>A
c.396+323T>A (n.396+323T>A)
n.722A>T
14g.21391511C>ACA388877092CHD8c.6180G>T (p.Met2060Ile)
c.437+322G>T
c.4717G>T
c.7017G>T (p.Met2339Ile)
n.6173G>T
c.396+322G>T (n.396+322G>T)
n.723C>A
14g.21391511C>GCA388877091CHD8c.6180G>C (p.Met2060Ile)
c.437+322G>C
c.4717G>C
c.7017G>C (p.Met2339Ile)
n.6173G>C
c.396+322G>C (n.396+322G>C)
n.723C>G
14g.21391511C>TCA388877093CHD8c.6180G>A (p.Met2060Ile)
c.437+322G>A
c.4717G>A
c.7017G>A (p.Met2339Ile)
n.6173G>A
c.396+322G>A (n.396+322G>A)
n.723C>T
 gnomAD v4
14g.21391512A>CCA388877094CHD8c.6179T>G (p.Met2060Arg)
c.437+321T>G
c.4716T>G
c.7016T>G (p.Met2339Arg)
n.6172T>G
c.396+321T>G (n.396+321T>G)
n.724A>C
14g.21391512A>GCA388877095CHD8c.6179T>C (p.Met2060Thr)
c.437+321T>C
c.4716T>C
c.7016T>C (p.Met2339Thr)
n.6172T>C
c.396+321T>C (n.396+321T>C)
n.724A>G
14g.21391512A>TCA388877096CHD8c.6179T>A (p.Met2060Lys)
c.437+321T>A
c.4716T>A
c.7016T>A (p.Met2339Lys)
n.6172T>A
c.396+321T>A (n.396+321T>A)
n.724A>T
14g.21391513T>ACA388877097CHD8c.6178A>T (p.Met2060Leu)
c.437+320A>T
c.4715A>T
c.7015A>T (p.Met2339Leu)
n.6171A>T
c.396+320A>T (n.396+320A>T)
n.725T>A
14g.21391513T>CCA388877098CHD8c.6178A>G (p.Met2060Val)
c.437+320A>G
c.4715A>G
c.7015A>G (p.Met2339Val)
n.6171A>G
c.396+320A>G (n.396+320A>G)
n.725T>C
14g.21391513T>GCA388877099CHD8c.6178A>C (p.Met2060Leu)
c.437+320A>C
c.4715A>C
c.7015A>C (p.Met2339Leu)
n.6171A>C
c.396+320A>C (n.396+320A>C)
n.725T>G
14g.21391513T=CA2122503302CHD8c.6178A= (p.Met2060=)
c.437+320A=
c.4715A=
c.7015A= (p.Met2339=)
n.6171A=
c.396+320A= (n.396+320A=)
n.725T=
14g.21391514C>ACA7090627CHD8c.6177G>T (p.Glu2059Asp)
c.437+319G>T
c.4714G>T
c.7014G>T (p.Glu2338Asp)
n.6170G>T
c.396+319G>T (n.396+319G>T)
n.726C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391514C=CA2122503307CHD8c.6177G= (p.Glu2059=)
c.437+319G=
c.4714G=
c.7014G= (p.Glu2338=)
n.6170G=
c.396+319G= (n.396+319G=)
n.726C=
14g.21391514C>GCA7090626CHD8c.6177G>C (p.Glu2059Asp)
c.437+319G>C
c.4714G>C
c.7014G>C (p.Glu2338Asp)
n.6170G>C
c.396+319G>C (n.396+319G>C)
n.726C>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.21391514C>TCA484999784CHD8c.6177G>A (p.Glu2059=)
c.437+319G>A
c.4714G>A
c.7014G>A (p.Glu2338=)
n.6170G>A
c.396+319G>A (n.396+319G>A)
n.726C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21391514_21391518dupCA915948814CHD8c.6173_6177dup (p.Met2060TrpfsTer18)
c.437+315_437+319dup
c.4710_4714dup
c.7010_7014dup (p.Met2339TrpfsTer18)
n.6166_6170dup
c.396+315_396+319dup (n.396+315_396+319dup)
n.726_730dup
 ClinVar dbSNP
14g.21391515T>ACA388877100CHD8c.6176A>T (p.Glu2059Val)
c.437+318A>T
c.4713A>T
c.7013A>T (p.Glu2338Val)
n.6169A>T
c.396+318A>T (n.396+318A>T)
n.727T>A
14g.21391515T>CCA388877101CHD8c.6176A>G (p.Glu2059Gly)
c.437+318A>G
c.4713A>G
c.7013A>G (p.Glu2338Gly)
n.6169A>G
c.396+318A>G (n.396+318A>G)
n.727T>C
14g.21391515T>GCA388877102CHD8c.6176A>C (p.Glu2059Ala)
c.437+318A>C
c.4713A>C
c.7013A>C (p.Glu2338Ala)
n.6169A>C
c.396+318A>C (n.396+318A>C)
n.727T>G
14g.21391516C>ACA388877103CHD8c.6175G>T (p.Glu2059Ter)
c.437+317G>T
c.4712G>T
c.7012G>T (p.Glu2338Ter)
n.6168G>T
c.396+317G>T (n.396+317G>T)
n.728C>A
 dbSNP
14g.21391516C=CA2122503314CHD8c.6175G= (p.Glu2059=)
c.437+317G=
c.4712G=
c.7012G= (p.Glu2338=)
n.6168G=
c.396+317G= (n.396+317G=)
n.728C=
14g.21391516C>GCA388877104CHD8c.6175G>C (p.Glu2059Gln)
c.437+317G>C
c.4712G>C
c.7012G>C (p.Glu2338Gln)
n.6168G>C
c.396+317G>C (n.396+317G>C)
n.728C>G
14g.21391516C>TCA388877105CHD8c.6175G>A (p.Glu2059Lys)
c.437+317G>A
c.4712G>A
c.7012G>A (p.Glu2338Lys)
n.6168G>A
c.396+317G>A (n.396+317G>A)
n.728C>T
14g.21391517C>ACA257591108CHD8c.6174G>T (p.Leu2058=)
c.437+316G>T
c.4711G>T
c.7011G>T (p.Leu2337=)
n.6167G>T
c.396+316G>T (n.396+316G>T)
n.729C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21391517C=CA2122503315CHD8c.6174G= (p.Leu2058=)
c.437+316G=
c.4711G=
c.7011G= (p.Leu2337=)
n.6167G=
c.396+316G= (n.396+316G=)
n.729C=
14g.21391517C>GCA484993462CHD8c.6174G>C (p.Leu2058=)
c.437+316G>C
c.4711G>C
c.7011G>C (p.Leu2337=)
n.6167G>C
c.396+316G>C (n.396+316G>C)
n.729C>G
14g.21391517C>TCA484993465CHD8c.6174G>A (p.Leu2058=)
c.437+316G>A
c.4711G>A
c.7011G>A (p.Leu2337=)
n.6167G>A
c.396+316G>A (n.396+316G>A)
n.729C>T
14g.21391518A=CA2122503324CHD8c.6173T= (p.Leu2058=)
c.437+315T=
c.4710T=
c.7010T= (p.Leu2337=)
n.6166T=
c.396+315T= (n.396+315T=)
n.730A=
14g.21391518A>CCA388877108CHD8c.6173T>G (p.Leu2058Arg)
c.437+315T>G
c.4710T>G
c.7010T>G (p.Leu2337Arg)
n.6166T>G
c.396+315T>G (n.396+315T>G)
n.730A>C
14g.21391518A>GCA388877106CHD8c.6173T>C (p.Leu2058Pro)
c.437+315T>C
c.4710T>C
c.7010T>C (p.Leu2337Pro)
n.6166T>C
c.396+315T>C (n.396+315T>C)
n.730A>G
14g.21391518A>TCA388877107CHD8c.6173T>A (p.Leu2058Gln)
c.437+315T>A
c.4710T>A
c.7010T>A (p.Leu2337Gln)
n.6166T>A
c.396+315T>A (n.396+315T>A)
n.730A>T
 ClinVar dbSNP
14g.21391519G>ACA484993467CHD8c.6172C>T (p.Leu2058=)
c.437+314C>T
c.4709C>T
c.7009C>T (p.Leu2337=)
n.6165C>T
c.396+314C>T (n.396+314C>T)
n.731G>A
14g.21391519G>CCA388877109CHD8c.6172C>G (p.Leu2058Val)
c.437+314C>G
c.4709C>G
c.7009C>G (p.Leu2337Val)
n.6165C>G
c.396+314C>G (n.396+314C>G)
n.731G>C
14g.21391519G=CA2122503332CHD8c.6172C= (p.Leu2058=)
c.437+314C=
c.4709C=
c.7009C= (p.Leu2337=)
n.6165C=
c.396+314C= (n.396+314C=)
n.731G=
14g.21391519G>TCA388877110CHD8c.6172C>A (p.Leu2058Met)
c.437+314C>A
c.4709C>A
c.7009C>A (p.Leu2337Met)
n.6165C>A
c.396+314C>A (n.396+314C>A)
n.731G>T
 dbSNP
14g.21391520T>ACA388877111CHD8c.6171A>T (p.Glu2057Asp)
c.437+313A>T
c.4708A>T
c.7008A>T (p.Glu2336Asp)
n.6164A>T
c.396+313A>T (n.396+313A>T)
n.732T>A
14g.21391520T>CCA484993470CHD8c.6171A>G (p.Glu2057=)
c.437+313A>G
c.4708A>G
c.7008A>G (p.Glu2336=)
n.6164A>G
c.396+313A>G (n.396+313A>G)
n.732T>C
14g.21391520T>GCA388877112CHD8c.6171A>C (p.Glu2057Asp)
c.437+313A>C
c.4708A>C
c.7008A>C (p.Glu2336Asp)
n.6164A>C
c.396+313A>C (n.396+313A>C)
n.732T>G
14g.21391521T>ACA388877113CHD8c.6170A>T (p.Glu2057Val)
c.437+312A>T
c.4707A>T
c.7007A>T (p.Glu2336Val)
n.6163A>T
c.396+312A>T (n.396+312A>T)
n.733T>A
14g.21391521T>CCA388877114CHD8c.6170A>G (p.Glu2057Gly)
c.437+312A>G
c.4707A>G
c.7007A>G (p.Glu2336Gly)
n.6163A>G
c.396+312A>G (n.396+312A>G)
n.733T>C
14g.21391521T>GCA388877115CHD8c.6170A>C (p.Glu2057Ala)
c.437+312A>C
c.4707A>C
c.7007A>C (p.Glu2336Ala)
n.6163A>C
c.396+312A>C (n.396+312A>C)
n.733T>G
14g.21391522C>ACA388877116CHD8c.6169G>T (p.Glu2057Ter)
c.437+311G>T
c.4706G>T
c.7006G>T (p.Glu2336Ter)
n.6162G>T
c.396+311G>T (n.396+311G>T)
n.734C>A
 dbSNP
14g.21391522C=CA2122503335CHD8c.6169G= (p.Glu2057=)
c.437+311G=
c.4706G=
c.7006G= (p.Glu2336=)
n.6162G=
c.396+311G= (n.396+311G=)
n.734C=
14g.21391522C>GCA388877117CHD8c.6169G>C (p.Glu2057Gln)
c.437+311G>C
c.4706G>C
c.7006G>C (p.Glu2336Gln)
n.6162G>C
c.396+311G>C (n.396+311G>C)
n.734C>G
 gnomAD v4
14g.21391522C>TCA388877118CHD8c.6169G>A (p.Glu2057Lys)
c.437+311G>A
c.4706G>A
c.7006G>A (p.Glu2336Lys)
n.6162G>A
c.396+311G>A (n.396+311G>A)
n.734C>T
14g.21391523A=CA2122503340CHD8c.6168T= (p.Ala2056=)
c.437+310T=
c.4705T=
c.7005T= (p.Ala2335=)
n.6161T=
c.396+310T= (n.396+310T=)
n.735A=
14g.21391523A>CCA484993478CHD8c.6168T>G (p.Ala2056=)
c.437+310T>G
c.4705T>G
c.7005T>G (p.Ala2335=)
n.6161T>G
c.396+310T>G (n.396+310T>G)
n.735A>C
14g.21391523A>GCA484993475CHD8c.6168T>C (p.Ala2056=)
c.437+310T>C
c.4705T>C
c.7005T>C (p.Ala2335=)
n.6161T>C
c.396+310T>C (n.396+310T>C)
n.735A>G
14g.21391523A>TCA484993476CHD8c.6168T>A (p.Ala2056=)
c.437+310T>A
c.4705T>A
c.7005T>A (p.Ala2335=)
n.6161T>A
c.396+310T>A (n.396+310T>A)
n.735A>T
 dbSNP gnomAD v2 gnomAD v4
14g.21391524G>ACA7090628CHD8c.6167C>T (p.Ala2056Val)
c.437+309C>T
c.4704C>T
c.7004C>T (p.Ala2335Val)
n.6160C>T
c.396+309C>T (n.396+309C>T)
n.736G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391524G>CCA388877119CHD8c.6167C>G (p.Ala2056Gly)
c.437+309C>G
c.4704C>G
c.7004C>G (p.Ala2335Gly)
n.6160C>G
c.396+309C>G (n.396+309C>G)
n.736G>C
14g.21391524G=CA2122503345CHD8c.6167C= (p.Ala2056=)
c.437+309C=
c.4704C=
c.7004C= (p.Ala2335=)
n.6160C=
c.396+309C= (n.396+309C=)
n.736G=
14g.21391524G>TCA388877120CHD8c.6167C>A (p.Ala2056Asp)
c.437+309C>A
c.4704C>A
c.7004C>A (p.Ala2335Asp)
n.6160C>A
c.396+309C>A (n.396+309C>A)
n.736G>T
14g.21391525C>ACA388877121CHD8c.6166G>T (p.Ala2056Ser)
c.437+308G>T
c.4703G>T
c.7003G>T (p.Ala2335Ser)
n.6159G>T
c.396+308G>T (n.396+308G>T)
n.737C>A
14g.21391525C=CA2122503351CHD8c.6166G= (p.Ala2056=)
c.437+308G=
c.4703G=
c.7003G= (p.Ala2335=)
n.6159G=
c.396+308G= (n.396+308G=)
n.737C=
14g.21391525C>GCA388877123CHD8c.6166G>C (p.Ala2056Pro)
c.437+308G>C
c.4703G>C
c.7003G>C (p.Ala2335Pro)
n.6159G>C
c.396+308G>C (n.396+308G>C)
n.737C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21391525C>TCA388877122CHD8c.6166G>A (p.Ala2056Thr)
c.437+308G>A
c.4703G>A
c.7003G>A (p.Ala2335Thr)
n.6159G>A
c.396+308G>A (n.396+308G>A)
n.737C>T
14g.21391526C>ACA484993483CHD8c.6165G>T (p.Arg2055=)
c.437+307G>T
c.4702G>T
c.7002G>T (p.Arg2334=)
n.6158G>T
c.396+307G>T (n.396+307G>T)
n.738C>A
14g.21391526C>GCA484993484CHD8c.6165G>C (p.Arg2055=)
c.437+307G>C
c.4702G>C
c.7002G>C (p.Arg2334=)
n.6158G>C
c.396+307G>C (n.396+307G>C)
n.738C>G
14g.21391526C>TCA484993485CHD8c.6165G>A (p.Arg2055=)
c.437+307G>A
c.4702G>A
c.7002G>A (p.Arg2334=)
n.6158G>A
c.396+307G>A (n.396+307G>A)
n.738C>T
14g.21391527C>ACA388877124CHD8c.6164G>T (p.Arg2055Leu)
c.437+306G>T
c.4701G>T
c.7001G>T (p.Arg2334Leu)
n.6157G>T
c.396+306G>T (n.396+306G>T)
n.739C>A
14g.21391527C=CA2122503355CHD8c.6164G= (p.Arg2055=)
c.437+306G=
c.4701G=
c.7001G= (p.Arg2334=)
n.6157G=
c.396+306G= (n.396+306G=)
n.739C=
14g.21391527C>GCA388877125CHD8c.6164G>C (p.Arg2055Pro)
c.437+306G>C
c.4701G>C
c.7001G>C (p.Arg2334Pro)
n.6157G>C
c.396+306G>C (n.396+306G>C)
n.739C>G
14g.21391527C>TCA7090629CHD8c.6164G>A (p.Arg2055Gln)
c.437+306G>A
c.4701G>A
c.7001G>A (p.Arg2334Gln)
n.6157G>A
c.396+306G>A (n.396+306G>A)
n.739C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21391528G>ACA7090630CHD8c.6163C>T (p.Arg2055Trp)
c.437+305C>T
c.4700C>T
c.7000C>T (p.Arg2334Trp)
n.6156C>T
c.396+305C>T (n.396+305C>T)
n.740G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391528G>CCA7090631CHD8c.6163C>G (p.Arg2055Gly)
c.437+305C>G
c.4700C>G
c.7000C>G (p.Arg2334Gly)
n.6156C>G
c.396+305C>G (n.396+305C>G)
n.740G>C
 dbSNP ExAC gnomAD v2
14g.21391528G=CA2122503360CHD8c.6163C= (p.Arg2055=)
c.437+305C=
c.4700C=
c.7000C= (p.Arg2334=)
n.6156C=
c.396+305C= (n.396+305C=)
n.740G=
14g.21391528G>TCA484993490CHD8c.6163C>A (p.Arg2055=)
c.437+305C>A
c.4700C>A
c.7000C>A (p.Arg2334=)
n.6156C>A
c.396+305C>A (n.396+305C>A)
n.740G>T
14g.21391529G>ACA484993493CHD8c.6162C>T (p.Arg2054=)
c.437+304C>T
c.4699C>T
c.6999C>T (p.Arg2333=)
n.6155C>T
c.396+304C>T (n.396+304C>T)
n.741G>A
 dbSNP
14g.21391529G>CCA484993495CHD8c.6162C>G (p.Arg2054=)
c.437+304C>G
c.4699C>G
c.6999C>G (p.Arg2333=)
n.6155C>G
c.396+304C>G (n.396+304C>G)
n.741G>C
14g.21391529G=CA2122503364CHD8c.6162C= (p.Arg2054=)
c.437+304C=
c.4699C=
c.6999C= (p.Arg2333=)
n.6155C=
c.396+304C= (n.396+304C=)
n.741G=
14g.21391529G>TCA484993496CHD8c.6162C>A (p.Arg2054=)
c.437+304C>A
c.4699C>A
c.6999C>A (p.Arg2333=)
n.6155C>A
c.396+304C>A (n.396+304C>A)
n.741G>T
 dbSNP gnomAD v2 gnomAD v4
14g.21391530C>ACA388877126CHD8c.6161G>T (p.Arg2054Leu)
c.437+303G>T
c.4698G>T
c.6998G>T (p.Arg2333Leu)
n.6154G>T
c.396+303G>T (n.396+303G>T)
n.742C>A
14g.21391530C=CA2122503367CHD8c.6161G= (p.Arg2054=)
c.437+303G=
c.4698G=
c.6998G= (p.Arg2333=)
n.6154G=
c.396+303G= (n.396+303G=)
n.742C=
14g.21391530C>GCA388877127CHD8c.6161G>C (p.Arg2054Pro)
c.437+303G>C
c.4698G>C
c.6998G>C (p.Arg2333Pro)
n.6154G>C
c.396+303G>C (n.396+303G>C)
n.742C>G
14g.21391530C>TCA7090632CHD8c.6161G>A (p.Arg2054His)
c.437+303G>A
c.4698G>A
c.6998G>A (p.Arg2333His)
n.6154G>A
c.396+303G>A (n.396+303G>A)
n.742C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391531G>ACA388877128CHD8c.6160C>T (p.Arg2054Cys)
c.437+302C>T
c.4697C>T
c.6997C>T (p.Arg2333Cys)
n.6153C>T
c.396+302C>T (n.396+302C>T)
n.743G>A
 dbSNP gnomAD v4
14g.21391531G>CCA388877129CHD8c.6160C>G (p.Arg2054Gly)
c.437+302C>G
c.4697C>G
c.6997C>G (p.Arg2333Gly)
n.6153C>G
c.396+302C>G (n.396+302C>G)
n.743G>C
14g.21391531G=CA2122503370CHD8c.6160C= (p.Arg2054=)
c.437+302C=
c.4697C=
c.6997C= (p.Arg2333=)
n.6153C=
c.396+302C= (n.396+302C=)
n.743G=
14g.21391531G>TCA388877130CHD8c.6160C>A (p.Arg2054Ser)
c.437+302C>A
c.4697C>A
c.6997C>A (p.Arg2333Ser)
n.6153C>A
c.396+302C>A (n.396+302C>A)
n.743G>T
14g.21391532A>CCA484993500CHD8c.6159T>G (p.Pro2053=)
c.437+301T>G
c.4696T>G
c.6996T>G (p.Pro2332=)
n.6152T>G
c.396+301T>G (n.396+301T>G)
n.744A>C
14g.21391532A>GCA484993503CHD8c.6159T>C (p.Pro2053=)
c.437+301T>C
c.4696T>C
c.6996T>C (p.Pro2332=)
n.6152T>C
c.396+301T>C (n.396+301T>C)
n.744A>G
14g.21391532A>TCA484993501CHD8c.6159T>A (p.Pro2053=)
c.437+301T>A
c.4696T>A
c.6996T>A (p.Pro2332=)
n.6152T>A
c.396+301T>A (n.396+301T>A)
n.744A>T
14g.21391533G>ACA388877133CHD8c.6158C>T (p.Pro2053Leu)
c.437+300C>T
c.4695C>T
c.6995C>T (p.Pro2332Leu)
n.6151C>T
c.396+300C>T (n.396+300C>T)
n.745G>A
 dbSNP gnomAD v4
14g.21391533G>CCA388877132CHD8c.6158C>G (p.Pro2053Arg)
c.437+300C>G
c.4695C>G
c.6995C>G (p.Pro2332Arg)
n.6151C>G
c.396+300C>G (n.396+300C>G)
n.745G>C
14g.21391533G=CA2122503372CHD8c.6158C= (p.Pro2053=)
c.437+300C=
c.4695C=
c.6995C= (p.Pro2332=)
n.6151C=
c.396+300C= (n.396+300C=)
n.745G=
14g.21391533G>TCA388877131CHD8c.6158C>A (p.Pro2053His)
c.437+300C>A
c.4695C>A
c.6995C>A (p.Pro2332His)
n.6151C>A
c.396+300C>A (n.396+300C>A)
n.745G>T
14g.21391534G>ACA388877134CHD8c.6157C>T (p.Pro2053Ser)
c.437+299C>T
c.4694C>T
c.6994C>T (p.Pro2332Ser)
n.6150C>T
c.396+299C>T (n.396+299C>T)
n.746G>A
14g.21391534G>CCA388877135CHD8c.6157C>G (p.Pro2053Ala)
c.437+299C>G
c.4694C>G
c.6994C>G (p.Pro2332Ala)
n.6150C>G
c.396+299C>G (n.396+299C>G)
n.746G>C
14g.21391534G>TCA388877136CHD8c.6157C>A (p.Pro2053Thr)
c.437+299C>A
c.4694C>A
c.6994C>A (p.Pro2332Thr)
n.6150C>A
c.396+299C>A (n.396+299C>A)
n.746G>T
14g.21391535G>ACA257591161CHD8c.6156C>T (p.Ala2052=)
c.437+298C>T
c.4693C>T
c.6993C>T (p.Ala2331=)
n.6149C>T
c.396+298C>T (n.396+298C>T)
n.747G>A
 dbSNP gnomAD v3 gnomAD v4
14g.21391535G>CCA484993508CHD8c.6156C>G (p.Ala2052=)
c.437+298C>G
c.4693C>G
c.6993C>G (p.Ala2331=)
n.6149C>G
c.396+298C>G (n.396+298C>G)
n.747G>C
14g.21391535G=CA2122503375CHD8c.6156C= (p.Ala2052=)
c.437+298C=
c.4693C=
c.6993C= (p.Ala2331=)
n.6149C=
c.396+298C= (n.396+298C=)
n.747G=
14g.21391535G>TCA484993510CHD8c.6156C>A (p.Ala2052=)
c.437+298C>A
c.4693C>A
c.6993C>A (p.Ala2331=)
n.6149C>A
c.396+298C>A (n.396+298C>A)
n.747G>T
14g.21391536G>ACA388877137CHD8c.6155C>T (p.Ala2052Val)
c.437+297C>T
c.4692C>T
c.6992C>T (p.Ala2331Val)
n.6148C>T
c.396+297C>T (n.396+297C>T)
n.748G>A
14g.21391536G>CCA388877138CHD8c.6155C>G (p.Ala2052Gly)
c.437+297C>G
c.4692C>G
c.6992C>G (p.Ala2331Gly)
n.6148C>G
c.396+297C>G (n.396+297C>G)
n.748G>C
14g.21391536G>TCA388877139CHD8c.6155C>A (p.Ala2052Asp)
c.437+297C>A
c.4692C>A
c.6992C>A (p.Ala2331Asp)
n.6148C>A
c.396+297C>A (n.396+297C>A)
n.748G>T
14g.21391537C>ACA388877140CHD8c.6154G>T (p.Ala2052Ser)
c.437+296G>T
c.4691G>T
c.6991G>T (p.Ala2331Ser)
n.6147G>T
c.396+296G>T (n.396+296G>T)
n.749C>A
14g.21391537C>GCA388877141CHD8c.6154G>C (p.Ala2052Pro)
c.437+296G>C
c.4691G>C
c.6991G>C (p.Ala2331Pro)
n.6147G>C
c.396+296G>C (n.396+296G>C)
n.749C>G
14g.21391537C>TCA388877142CHD8c.6154G>A (p.Ala2052Thr)
c.437+296G>A
c.4691G>A
c.6991G>A (p.Ala2331Thr)
n.6147G>A
c.396+296G>A (n.396+296G>A)
n.749C>T
14g.21391538A>CCA388877143CHD8c.6153T>G (p.Asp2051Glu)
c.437+295T>G
c.4690T>G
c.6990T>G (p.Asp2330Glu)
n.6146T>G
c.396+295T>G (n.396+295T>G)
n.750A>C
 COSMIC COSMIC
14g.21391538A>GCA484993513CHD8c.6153T>C (p.Asp2051=)
c.437+295T>C
c.4690T>C
c.6990T>C (p.Asp2330=)
n.6146T>C
c.396+295T>C (n.396+295T>C)
n.750A>G
14g.21391538A>TCA388877144CHD8c.6153T>A (p.Asp2051Glu)
c.437+295T>A
c.4690T>A
c.6990T>A (p.Asp2330Glu)
n.6146T>A
c.396+295T>A (n.396+295T>A)
n.750A>T
 gnomAD v4
14g.21391539T>ACA388877147CHD8c.6152A>T (p.Asp2051Val)
c.437+294A>T
c.4689A>T
c.6989A>T (p.Asp2330Val)
n.6145A>T
c.396+294A>T (n.396+294A>T)
n.751T>A
14g.21391539T>CCA388877146CHD8c.6152A>G (p.Asp2051Gly)
c.437+294A>G
c.4689A>G
c.6989A>G (p.Asp2330Gly)
n.6145A>G
c.396+294A>G (n.396+294A>G)
n.751T>C
14g.21391539T>GCA388877145CHD8c.6152A>C (p.Asp2051Ala)
c.437+294A>C
c.4689A>C
c.6989A>C (p.Asp2330Ala)
n.6145A>C
c.396+294A>C (n.396+294A>C)
n.751T>G
14g.21391540C>ACA388877148CHD8c.6151G>T (p.Asp2051Tyr)
c.437+293G>T
c.4688G>T
c.6988G>T (p.Asp2330Tyr)
n.6144G>T
c.396+293G>T (n.396+293G>T)
n.752C>A
14g.21391540C>GCA388877149CHD8c.6151G>C (p.Asp2051His)
c.437+293G>C
c.4688G>C
c.6988G>C (p.Asp2330His)
n.6144G>C
c.396+293G>C (n.396+293G>C)
n.752C>G
14g.21391540C>TCA388877150CHD8c.6151G>A (p.Asp2051Asn)
c.437+293G>A
c.4688G>A
c.6988G>A (p.Asp2330Asn)
n.6144G>A
c.396+293G>A (n.396+293G>A)
n.752C>T
14g.21391541C>ACA388877151CHD8c.6150G>T (p.Glu2050Asp)
c.437+292G>T
c.4687G>T
c.6987G>T (p.Glu2329Asp)
n.6143G>T
c.396+292G>T (n.396+292G>T)
n.753C>A
 COSMIC COSMIC
14g.21391541C>GCA388877152CHD8c.6150G>C (p.Glu2050Asp)
c.437+292G>C
c.4687G>C
c.6987G>C (p.Glu2329Asp)
n.6143G>C
c.396+292G>C (n.396+292G>C)
n.753C>G
14g.21391541C>TCA484993521CHD8c.6150G>A (p.Glu2050=)
c.437+292G>A
c.4687G>A
c.6987G>A (p.Glu2329=)
n.6143G>A
c.396+292G>A (n.396+292G>A)
n.753C>T
14g.21391542T>ACA388877155CHD8c.6149A>T (p.Glu2050Val)
c.437+291A>T
c.4686A>T
c.6986A>T (p.Glu2329Val)
n.6142A>T
c.396+291A>T (n.396+291A>T)
n.754T>A
14g.21391542T>CCA388877154CHD8c.6149A>G (p.Glu2050Gly)
c.437+291A>G
c.4686A>G
c.6986A>G (p.Glu2329Gly)
n.6142A>G
c.396+291A>G (n.396+291A>G)
n.754T>C
14g.21391542T>GCA388877153CHD8c.6149A>C (p.Glu2050Ala)
c.437+291A>C
c.4686A>C
c.6986A>C (p.Glu2329Ala)
n.6142A>C
c.396+291A>C (n.396+291A>C)
n.754T>G
14g.21391543C>ACA388877156CHD8c.6148G>T (p.Glu2050Ter)
c.437+290G>T
c.4685G>T
c.6985G>T (p.Glu2329Ter)
n.6141G>T
c.396+290G>T (n.396+290G>T)
n.755C>A
 dbSNP
14g.21391543C=CA2122503380CHD8c.6148G= (p.Glu2050=)
c.437+290G=
c.4685G=
c.6985G= (p.Glu2329=)
n.6141G=
c.396+290G= (n.396+290G=)
n.755C=
14g.21391543C>GCA388877157CHD8c.6148G>C (p.Glu2050Gln)
c.437+290G>C
c.4685G>C
c.6985G>C (p.Glu2329Gln)
n.6141G>C
c.396+290G>C (n.396+290G>C)
n.755C>G
14g.21391543C>TCA388877158CHD8c.6148G>A (p.Glu2050Lys)
c.437+290G>A
c.4685G>A
c.6985G>A (p.Glu2329Lys)
n.6141G>A
c.396+290G>A (n.396+290G>A)
n.755C>T
 ClinVar
14g.21391544A>CCA484993527CHD8c.6147T>G (p.Gly2049=)
c.437+289T>G
c.4684T>G
c.6984T>G (p.Gly2328=)
n.6140T>G
c.396+289T>G (n.396+289T>G)
n.756A>C
14g.21391544A>GCA484993529CHD8c.6147T>C (p.Gly2049=)
c.437+289T>C
c.4684T>C
c.6984T>C (p.Gly2328=)
n.6140T>C
c.396+289T>C (n.396+289T>C)
n.756A>G
 dbSNP
14g.21391544A>TCA484993528CHD8c.6147T>A (p.Gly2049=)
c.437+289T>A
c.4684T>A
c.6984T>A (p.Gly2328=)
n.6140T>A
c.396+289T>A (n.396+289T>A)
n.756A>T
14g.21391545C>ACA388877159CHD8c.6146G>T (p.Gly2049Val)
c.437+288G>T
c.4683G>T
c.6983G>T (p.Gly2328Val)
n.6139G>T
c.396+288G>T (n.396+288G>T)
n.757C>A
 gnomAD v4
14g.21391545C>GCA388877160CHD8c.6146G>C (p.Gly2049Ala)
c.437+288G>C
c.4683G>C
c.6983G>C (p.Gly2328Ala)
n.6139G>C
c.396+288G>C (n.396+288G>C)
n.757C>G
14g.21391545C>TCA388877161CHD8c.6146G>A (p.Gly2049Asp)
c.437+288G>A
c.4683G>A
c.6983G>A (p.Gly2328Asp)
n.6139G>A
c.396+288G>A (n.396+288G>A)
n.757C>T
14g.21391546C>ACA388877163CHD8c.6145G>T (p.Gly2049Cys)
c.437+287G>T
c.4682G>T
c.6982G>T (p.Gly2328Cys)
n.6138G>T
c.396+287G>T (n.396+287G>T)
n.758C>A
14g.21391546C=CA2122503382CHD8c.6145G= (p.Gly2049=)
c.437+287G=
c.4682G=
c.6982G= (p.Gly2328=)
n.6138G=
c.396+287G= (n.396+287G=)
n.758C=
14g.21391546C>GCA388877162CHD8c.6145G>C (p.Gly2049Arg)
c.437+287G>C
c.4682G>C
c.6982G>C (p.Gly2328Arg)
n.6138G>C
c.396+287G>C (n.396+287G>C)
n.758C>G
14g.21391546C>TCA7090633CHD8c.6145G>A (p.Gly2049Ser)
c.437+287G>A
c.4682G>A
c.6982G>A (p.Gly2328Ser)
n.6138G>A
c.396+287G>A (n.396+287G>A)
n.758C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391547C>ACA484993540CHD8c.6144G>T (p.Val2048=)
c.437+286G>T
c.4681G>T
c.6981G>T (p.Val2327=)
n.6137G>T
c.396+286G>T (n.396+286G>T)
n.759C>A
14g.21391547C>GCA484993536CHD8c.6144G>C (p.Val2048=)
c.437+286G>C
c.4681G>C
c.6981G>C (p.Val2327=)
n.6137G>C
c.396+286G>C (n.396+286G>C)
n.759C>G
14g.21391547C>TCA484993538CHD8c.6144G>A (p.Val2048=)
c.437+286G>A
c.4681G>A
c.6981G>A (p.Val2327=)
n.6137G>A
c.396+286G>A (n.396+286G>A)
n.759C>T
14g.21391548A>CCA388877164CHD8c.6143T>G (p.Val2048Gly)
c.437+285T>G
c.4680T>G
c.6980T>G (p.Val2327Gly)
n.6136T>G
c.396+285T>G (n.396+285T>G)
n.760A>C
14g.21391548A>GCA388877165CHD8c.6143T>C (p.Val2048Ala)
c.437+285T>C
c.4680T>C
c.6980T>C (p.Val2327Ala)
n.6136T>C
c.396+285T>C (n.396+285T>C)
n.760A>G
14g.21391548A>TCA388877166CHD8c.6143T>A (p.Val2048Glu)
c.437+285T>A
c.4680T>A
c.6980T>A (p.Val2327Glu)
n.6136T>A
c.396+285T>A (n.396+285T>A)
n.760A>T
14g.21391549C>ACA388877167CHD8c.6142G>T (p.Val2048Leu)
c.437+284G>T
c.4679G>T
c.6979G>T (p.Val2327Leu)
n.6135G>T
c.396+284G>T (n.396+284G>T)
n.761C>A
14g.21391549C>GCA388877168CHD8c.6142G>C (p.Val2048Leu)
c.437+284G>C
c.4679G>C
c.6979G>C (p.Val2327Leu)
n.6135G>C
c.396+284G>C (n.396+284G>C)
n.761C>G
14g.21391549C>TCA388877169CHD8c.6142G>A (p.Val2048Met)
c.437+284G>A
c.4679G>A
c.6979G>A (p.Val2327Met)
n.6135G>A
c.396+284G>A (n.396+284G>A)
n.761C>T
14g.21391550C>ACA484993548CHD8c.6141G>T (p.Leu2047=)
c.437+283G>T
c.4678G>T
c.6978G>T (p.Leu2326=)
n.6134G>T
c.396+283G>T (n.396+283G>T)
n.762C>A
 COSMIC COSMIC
14g.21391550C>GCA484993549CHD8c.6141G>C (p.Leu2047=)
c.437+283G>C
c.4678G>C
c.6978G>C (p.Leu2326=)
n.6134G>C
c.396+283G>C (n.396+283G>C)
n.762C>G
14g.21391550C>TCA484993550CHD8c.6141G>A (p.Leu2047=)
c.437+283G>A
c.4678G>A
c.6978G>A (p.Leu2326=)
n.6134G>A
c.396+283G>A (n.396+283G>A)
n.762C>T
14g.21391551A>CCA388877170CHD8c.6140T>G (p.Leu2047Arg)
c.437+282T>G
c.4677T>G
c.6977T>G (p.Leu2326Arg)
n.6133T>G
c.396+282T>G (n.396+282T>G)
n.763A>C
14g.21391551A>GCA388877171CHD8c.6140T>C (p.Leu2047Pro)
c.437+282T>C
c.4677T>C
c.6977T>C (p.Leu2326Pro)
n.6133T>C
c.396+282T>C (n.396+282T>C)
n.763A>G
14g.21391551A>TCA388877172CHD8c.6140T>A (p.Leu2047Gln)
c.437+282T>A
c.4677T>A
c.6977T>A (p.Leu2326Gln)
n.6133T>A
c.396+282T>A (n.396+282T>A)
n.763A>T
14g.21391552G>ACA484993556CHD8c.6139C>T (p.Leu2047=)
c.437+281C>T
c.4676C>T
c.6976C>T (p.Leu2326=)
n.6132C>T
c.396+281C>T (n.396+281C>T)
n.764G>A
14g.21391552G>CCA388877173CHD8c.6139C>G (p.Leu2047Val)
c.437+281C>G
c.4676C>G
c.6976C>G (p.Leu2326Val)
n.6132C>G
c.396+281C>G (n.396+281C>G)
n.764G>C
14g.21391552G>TCA388877174CHD8c.6139C>A (p.Leu2047Met)
c.437+281C>A
c.4676C>A
c.6976C>A (p.Leu2326Met)
n.6132C>A
c.396+281C>A (n.396+281C>A)
n.764G>T
14g.21391553C>ACA388877175CHD8c.6138G>T (p.Leu2046Phe)
c.437+280G>T
c.4675G>T
c.6975G>T (p.Leu2325Phe)
n.6131G>T
c.396+280G>T (n.396+280G>T)
n.765C>A
14g.21391553C>GCA388877176CHD8c.6138G>C (p.Leu2046Phe)
c.437+280G>C
c.4675G>C
c.6975G>C (p.Leu2325Phe)
n.6131G>C
c.396+280G>C (n.396+280G>C)
n.765C>G
14g.21391553C>TCA484993561CHD8c.6138G>A (p.Leu2046=)
c.437+280G>A
c.4675G>A
c.6975G>A (p.Leu2325=)
n.6131G>A
c.396+280G>A (n.396+280G>A)
n.765C>T
 gnomAD v4
14g.21391554A=CA2122503386CHD8c.6137T= (p.Leu2046=)
c.437+279T=
c.4674T=
c.6974T= (p.Leu2325=)
n.6130T=
c.396+279T= (n.396+279T=)
n.766A=
14g.21391554A>CCA388877177CHD8c.6137T>G (p.Leu2046Trp)
c.437+279T>G
c.4674T>G
c.6974T>G (p.Leu2325Trp)
n.6130T>G
c.396+279T>G (n.396+279T>G)
n.766A>C
14g.21391554A>GCA7090634CHD8c.6137T>C (p.Leu2046Ser)
c.437+279T>C
c.4674T>C
c.6974T>C (p.Leu2325Ser)
n.6130T>C
c.396+279T>C (n.396+279T>C)
n.766A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391554A>TCA388877178CHD8c.6137T>A (p.Leu2046Ter)
c.437+279T>A
c.4674T>A
c.6974T>A (p.Leu2325Ter)
n.6130T>A
c.396+279T>A (n.396+279T>A)
n.766A>T
 dbSNP
14g.21391555A=CA2122503393CHD8c.6136T= (p.Leu2046=)
c.437+278T=
c.4673T=
c.6973T= (p.Leu2325=)
n.6129T=
c.396+278T= (n.396+278T=)
n.767A=
14g.21391555A>CCA388877179CHD8c.6136T>G (p.Leu2046Val)
c.437+278T>G
c.4673T>G
c.6973T>G (p.Leu2325Val)
n.6129T>G
c.396+278T>G (n.396+278T>G)
n.767A>C
14g.21391555A>GCA7090635CHD8c.6136T>C (p.Leu2046=)
c.437+278T>C
c.4673T>C
c.6973T>C (p.Leu2325=)
n.6129T>C
c.396+278T>C (n.396+278T>C)
n.767A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391555A>TCA388877180CHD8c.6136T>A (p.Leu2046Met)
c.437+278T>A
c.4673T>A
c.6973T>A (p.Leu2325Met)
n.6129T>A
c.396+278T>A (n.396+278T>A)
n.767A>T
14g.21391556A>CCA484993569CHD8c.6135T>G (p.Thr2045=)
c.437+277T>G
c.4672T>G
c.6972T>G (p.Thr2324=)
n.6128T>G
c.396+277T>G (n.396+277T>G)
n.768A>C
14g.21391556A>GCA484993570CHD8c.6135T>C (p.Thr2045=)
c.437+277T>C
c.4672T>C
c.6972T>C (p.Thr2324=)
n.6128T>C
c.396+277T>C (n.396+277T>C)
n.768A>G
 gnomAD v4
14g.21391556A>TCA484993575CHD8c.6135T>A (p.Thr2045=)
c.437+277T>A
c.4672T>A
c.6972T>A (p.Thr2324=)
n.6128T>A
c.396+277T>A (n.396+277T>A)
n.768A>T
14g.21391557G>ACA388877181CHD8c.6134C>T (p.Thr2045Ile)
c.437+276C>T
c.4671C>T
c.6971C>T (p.Thr2324Ile)
n.6127C>T
c.396+276C>T (n.396+276C>T)
n.769G>A
14g.21391557G>CCA388877182CHD8c.6134C>G (p.Thr2045Ser)
c.437+276C>G
c.4671C>G
c.6971C>G (p.Thr2324Ser)
n.6127C>G
c.396+276C>G (n.396+276C>G)
n.769G>C
14g.21391557G>TCA388877183CHD8c.6134C>A (p.Thr2045Asn)
c.437+276C>A
c.4671C>A
c.6971C>A (p.Thr2324Asn)
n.6127C>A
c.396+276C>A (n.396+276C>A)
n.769G>T
14g.21391558T>ACA388877184CHD8c.6133A>T (p.Thr2045Ser)
c.437+275A>T
c.4670A>T
c.6970A>T (p.Thr2324Ser)
n.6126A>T
c.396+275A>T (n.396+275A>T)
n.770T>A
14g.21391558T>CCA388877185CHD8c.6133A>G (p.Thr2045Ala)
c.437+275A>G
c.4670A>G
c.6970A>G (p.Thr2324Ala)
n.6126A>G
c.396+275A>G (n.396+275A>G)
n.770T>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.21391558T>GCA388877186CHD8c.6133A>C (p.Thr2045Pro)
c.437+275A>C
c.4670A>C
c.6970A>C (p.Thr2324Pro)
n.6126A>C
c.396+275A>C (n.396+275A>C)
n.770T>G
14g.21391558T=CA2122503395CHD8c.6133A= (p.Thr2045=)
c.437+275A=
c.4670A=
c.6970A= (p.Thr2324=)
n.6126A=
c.396+275A= (n.396+275A=)
n.770T=
14g.21391559A=CA2122503402CHD8c.6132T= (p.Gly2044=)
c.437+274T=
c.4669T=
c.6969T= (p.Gly2323=)
n.6125T=
c.396+274T= (n.396+274T=)
n.771A=
14g.21391559A>CCA484993588CHD8c.6132T>G (p.Gly2044=)
c.437+274T>G
c.4669T>G
c.6969T>G (p.Gly2323=)
n.6125T>G
c.396+274T>G (n.396+274T>G)
n.771A>C
14g.21391559A>GCA7090636CHD8c.6132T>C (p.Gly2044=)
c.437+274T>C
c.4669T>C
c.6969T>C (p.Gly2323=)
n.6125T>C
c.396+274T>C (n.396+274T>C)
n.771A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21391559A>TCA484993587CHD8c.6132T>A (p.Gly2044=)
c.437+274T>A
c.4669T>A
c.6969T>A (p.Gly2323=)
n.6125T>A
c.396+274T>A (n.396+274T>A)
n.771A>T
14g.21391560C>ACA388877187CHD8c.6131G>T (p.Gly2044Val)
c.437+273G>T
c.4668G>T
c.6968G>T (p.Gly2323Val)
n.6124G>T
c.396+273G>T (n.396+273G>T)
n.772C>A
14g.21391560C>GCA388877188CHD8c.6131G>C (p.Gly2044Ala)
c.437+273G>C
c.4668G>C
c.6968G>C (p.Gly2323Ala)
n.6124G>C
c.396+273G>C (n.396+273G>C)
n.772C>G
14g.21391560C>TCA388877189CHD8c.6131G>A (p.Gly2044Asp)
c.437+273G>A
c.4668G>A
c.6968G>A (p.Gly2323Asp)
n.6124G>A
c.396+273G>A (n.396+273G>A)
n.772C>T
 gnomAD v4
14g.21391561C>ACA388877192CHD8c.6130G>T (p.Gly2044Cys)
c.437+272G>T
c.4667G>T
c.6967G>T (p.Gly2323Cys)
n.6123G>T
c.396+272G>T (n.396+272G>T)
n.773C>A
14g.21391561C>GCA388877190CHD8c.6130G>C (p.Gly2044Arg)
c.437+272G>C
c.4667G>C
c.6967G>C (p.Gly2323Arg)
n.6123G>C
c.396+272G>C (n.396+272G>C)
n.773C>G
14g.21391561C>TCA388877191CHD8c.6130G>A (p.Gly2044Ser)
c.437+272G>A
c.4667G>A
c.6967G>A (p.Gly2323Ser)
n.6123G>A
c.396+272G>A (n.396+272G>A)
n.773C>T
14g.21391562A>CCA388877193CHD8c.6129T>G (p.Asp2043Glu)
c.437+271T>G
c.4666T>G
c.6966T>G (p.Asp2322Glu)
n.6122T>G
c.396+271T>G (n.396+271T>G)
n.774A>C
14g.21391562A>GCA484993597CHD8c.6129T>C (p.Asp2043=)
c.437+271T>C
c.4666T>C
c.6966T>C (p.Asp2322=)
n.6122T>C
c.396+271T>C (n.396+271T>C)
n.774A>G
14g.21391562A>TCA388877194CHD8c.6129T>A (p.Asp2043Glu)
c.437+271T>A
c.4666T>A
c.6966T>A (p.Asp2322Glu)
n.6122T>A
c.396+271T>A (n.396+271T>A)
n.774A>T
14g.21391563T>ACA388877195CHD8c.6128A>T (p.Asp2043Val)
c.437+270A>T
c.4665A>T
c.6965A>T (p.Asp2322Val)
n.6121A>T
c.396+270A>T (n.396+270A>T)
n.775T>A
14g.21391563T>CCA388877196CHD8c.6128A>G (p.Asp2043Gly)
c.437+270A>G
c.4665A>G
c.6965A>G (p.Asp2322Gly)
n.6121A>G
c.396+270A>G (n.396+270A>G)
n.775T>C
14g.21391563T>GCA388877197CHD8c.6128A>C (p.Asp2043Ala)
c.437+270A>C
c.4665A>C
c.6965A>C (p.Asp2322Ala)
n.6121A>C
c.396+270A>C (n.396+270A>C)
n.775T>G
14g.21391564C>ACA388877198CHD8c.6127G>T (p.Asp2043Tyr)
c.437+269G>T
c.4664G>T
c.6964G>T (p.Asp2322Tyr)
n.6120G>T
c.396+269G>T (n.396+269G>T)
n.776C>A
14g.21391564C>GCA388877199CHD8c.6127G>C (p.Asp2043His)
c.437+269G>C
c.4664G>C
c.6964G>C (p.Asp2322His)
n.6120G>C
c.396+269G>C (n.396+269G>C)
n.776C>G
14g.21391564C>TCA388877200CHD8c.6127G>A (p.Asp2043Asn)
c.437+269G>A
c.4664G>A
c.6964G>A (p.Asp2322Asn)
n.6120G>A
c.396+269G>A (n.396+269G>A)
n.776C>T
14g.21391565C>ACA484993601CHD8c.6126G>T (p.Val2042=)
c.437+268G>T
c.4663G>T
c.6963G>T (p.Val2321=)
n.6119G>T
c.396+268G>T (n.396+268G>T)
n.777C>A
14g.21391565C=CA2122503408CHD8c.6126G= (p.Val2042=)
c.437+268G=
c.4663G=
c.6963G= (p.Val2321=)
n.6119G=
c.396+268G= (n.396+268G=)
n.777C=
14g.21391565C>GCA484993603CHD8c.6126G>C (p.Val2042=)
c.437+268G>C
c.4663G>C
c.6963G>C (p.Val2321=)
n.6119G>C
c.396+268G>C (n.396+268G>C)
n.777C>G
14g.21391565C>TCA484993608CHD8c.6126G>A (p.Val2042=)
c.437+268G>A
c.4663G>A
c.6963G>A (p.Val2321=)
n.6119G>A
c.396+268G>A (n.396+268G>A)
n.777C>T
 dbSNP
14g.21391566A>CCA388877201CHD8c.6125T>G (p.Val2042Gly)
c.437+267T>G
c.4662T>G
c.6962T>G (p.Val2321Gly)
n.6118T>G
c.396+267T>G (n.396+267T>G)
n.778A>C
14g.21391566A>GCA388877202CHD8c.6125T>C (p.Val2042Ala)
c.437+267T>C
c.4662T>C
c.6962T>C (p.Val2321Ala)
n.6118T>C
c.396+267T>C (n.396+267T>C)
n.778A>G
14g.21391566A>TCA388877203CHD8c.6125T>A (p.Val2042Glu)
c.437+267T>A
c.4662T>A
c.6962T>A (p.Val2321Glu)
n.6118T>A
c.396+267T>A (n.396+267T>A)
n.778A>T
14g.21391567C>ACA388877206CHD8c.6124G>T (p.Val2042Leu)
c.437+266G>T
c.4661G>T
c.6961G>T (p.Val2321Leu)
n.6117G>T
c.396+266G>T (n.396+266G>T)
n.779C>A
14g.21391567C>GCA388877205CHD8c.6124G>C (p.Val2042Leu)
c.437+266G>C
c.4661G>C
c.6961G>C (p.Val2321Leu)
n.6117G>C
c.396+266G>C (n.396+266G>C)
n.779C>G
14g.21391567C>TCA388877204CHD8c.6124G>A (p.Val2042Met)
c.437+266G>A
c.4661G>A
c.6961G>A (p.Val2321Met)
n.6117G>A
c.396+266G>A (n.396+266G>A)
n.779C>T
14g.21391568C>ACA388877207CHD8c.6123G>T (p.Lys2041Asn)
c.437+265G>T
c.4660G>T
c.6960G>T (p.Lys2320Asn)
n.6116G>T
c.396+265G>T (n.396+265G>T)
n.780C>A
14g.21391568C>GCA388877208CHD8c.6123G>C (p.Lys2041Asn)
c.437+265G>C
c.4660G>C
c.6960G>C (p.Lys2320Asn)
n.6116G>C
c.396+265G>C (n.396+265G>C)
n.780C>G
14g.21391568C>TCA484993617CHD8c.6123G>A (p.Lys2041=)
c.437+265G>A
c.4660G>A
c.6960G>A (p.Lys2320=)
n.6116G>A
c.396+265G>A (n.396+265G>A)
n.780C>T
14g.21391569T>ACA388877209CHD8c.6122A>T (p.Lys2041Met)
c.437+264A>T
c.4659A>T
c.6959A>T (p.Lys2320Met)
n.6115A>T
c.396+264A>T (n.396+264A>T)
n.781T>A
14g.21391569T>CCA388877210CHD8c.6122A>G (p.Lys2041Arg)
c.437+264A>G
c.4659A>G
c.6959A>G (p.Lys2320Arg)
n.6115A>G
c.396+264A>G (n.396+264A>G)
n.781T>C
 gnomAD v4
14g.21391569T>GCA388877211CHD8c.6122A>C (p.Lys2041Thr)
c.437+264A>C
c.4659A>C
c.6959A>C (p.Lys2320Thr)
n.6115A>C
c.396+264A>C (n.396+264A>C)
n.781T>G
14g.21391570T>ACA388877212CHD8c.6121A>T (p.Lys2041Ter)
c.437+263A>T
c.4658A>T
c.6958A>T (p.Lys2320Ter)
n.6114A>T
c.396+263A>T (n.396+263A>T)
n.782T>A
14g.21391570T>CCA388877213CHD8c.6121A>G (p.Lys2041Glu)
c.437+263A>G
c.4658A>G
c.6958A>G (p.Lys2320Glu)
n.6114A>G
c.396+263A>G (n.396+263A>G)
n.782T>C
14g.21391570T>GCA388877214CHD8c.6121A>C (p.Lys2041Gln)
c.437+263A>C
c.4658A>C
c.6958A>C (p.Lys2320Gln)
n.6114A>C
c.396+263A>C (n.396+263A>C)
n.782T>G
14g.21391571A=CA2122503411CHD8c.6120T= (p.Asn2040=)
c.437+262T=
c.4657T=
c.6957T= (p.Asn2319=)
n.6113T=
c.396+262T= (n.396+262T=)
n.783A=
14g.21391571A>CCA388877215CHD8c.6120T>G (p.Asn2040Lys)
c.437+262T>G
c.4657T>G
c.6957T>G (p.Asn2319Lys)
n.6113T>G
c.396+262T>G (n.396+262T>G)
n.783A>C
14g.21391571A>GCA484993621CHD8c.6120T>C (p.Asn2040=)
c.437+262T>C
c.4657T>C
c.6957T>C (p.Asn2319=)
n.6113T>C
c.396+262T>C (n.396+262T>C)
n.783A>G
14g.21391571A>TCA388877216CHD8c.6120T>A (p.Asn2040Lys)
c.437+262T>A
c.4657T>A
c.6957T>A (p.Asn2319Lys)
n.6113T>A
c.396+262T>A (n.396+262T>A)
n.783A>T
 dbSNP gnomAD v4
14g.21391572T>ACA388877217CHD8c.6119A>T (p.Asn2040Ile)
c.437+261A>T
c.4656A>T
c.6956A>T (p.Asn2319Ile)
n.6112A>T
c.396+261A>T (n.396+261A>T)
n.784T>A
14g.21391572T>CCA7090637CHD8c.6119A>G (p.Asn2040Ser)
c.437+261A>G
c.4656A>G
c.6956A>G (p.Asn2319Ser)
n.6112A>G
c.396+261A>G (n.396+261A>G)
n.784T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391572T>GCA388877218CHD8c.6119A>C (p.Asn2040Thr)
c.437+261A>C
c.4656A>C
c.6956A>C (p.Asn2319Thr)
n.6112A>C
c.396+261A>C (n.396+261A>C)
n.784T>G
14g.21391572T=CA2122503413CHD8c.6119A= (p.Asn2040=)
c.437+261A=
c.4656A=
c.6956A= (p.Asn2319=)
n.6112A=
c.396+261A= (n.396+261A=)
n.784T=
14g.21391573T>ACA388877219CHD8c.6118A>T (p.Asn2040Tyr)
c.437+260A>T
c.4655A>T
c.6955A>T (p.Asn2319Tyr)
n.6111A>T
c.396+260A>T (n.396+260A>T)
n.785T>A
14g.21391573T>CCA388877220CHD8c.6118A>G (p.Asn2040Asp)
c.437+260A>G
c.4655A>G
c.6955A>G (p.Asn2319Asp)
n.6111A>G
c.396+260A>G (n.396+260A>G)
n.785T>C
 gnomAD v4
14g.21391573T>GCA388877221CHD8c.6118A>C (p.Asn2040His)
c.437+260A>C
c.4655A>C
c.6955A>C (p.Asn2319His)
n.6111A>C
c.396+260A>C (n.396+260A>C)
n.785T>G
14g.21391574G>ACA484993632CHD8c.6117C>T (p.Ile2039=)
c.437+259C>T
c.4654C>T
c.6954C>T (p.Ile2318=)
n.6110C>T
c.396+259C>T (n.396+259C>T)
n.786G>A
14g.21391574G>CCA388877222CHD8c.6117C>G (p.Ile2039Met)
c.437+259C>G
c.4654C>G
c.6954C>G (p.Ile2318Met)
n.6110C>G
c.396+259C>G (n.396+259C>G)
n.786G>C
14g.21391574G>TCA484993636CHD8c.6117C>A (p.Ile2039=)
c.437+259C>A
c.4654C>A
c.6954C>A (p.Ile2318=)
n.6110C>A
c.396+259C>A (n.396+259C>A)
n.786G>T
14g.21391575A>CCA388877223CHD8c.6116T>G (p.Ile2039Ser)
c.437+258T>G
c.4653T>G
c.6953T>G (p.Ile2318Ser)
n.6109T>G
c.396+258T>G (n.396+258T>G)
n.787A>C
14g.21391575A>GCA388877225CHD8c.6116T>C (p.Ile2039Thr)
c.437+258T>C
c.4653T>C
c.6953T>C (p.Ile2318Thr)
n.6109T>C
c.396+258T>C (n.396+258T>C)
n.787A>G
14g.21391575A>TCA388877224CHD8c.6116T>A (p.Ile2039Asn)
c.437+258T>A
c.4653T>A
c.6953T>A (p.Ile2318Asn)
n.6109T>A
c.396+258T>A (n.396+258T>A)
n.787A>T
14g.21391576T>ACA388877226CHD8c.6115A>T (p.Ile2039Phe)
c.437+257A>T
c.4652A>T
c.6952A>T (p.Ile2318Phe)
n.6108A>T
c.396+257A>T (n.396+257A>T)
n.788T>A
14g.21391576T>CCA388877227CHD8c.6115A>G (p.Ile2039Val)
c.437+257A>G
c.4652A>G
c.6952A>G (p.Ile2318Val)
n.6108A>G
c.396+257A>G (n.396+257A>G)
n.788T>C
 gnomAD v4
14g.21391576T>GCA388877228CHD8c.6115A>C (p.Ile2039Leu)
c.437+257A>C
c.4652A>C
c.6952A>C (p.Ile2318Leu)
n.6108A>C
c.396+257A>C (n.396+257A>C)
n.788T>G
14g.21391577G>ACA484993645CHD8c.6114C>T (p.Val2038=)
c.437+256C>T
c.4651C>T
c.6951C>T (p.Val2317=)
n.6107C>T
c.396+256C>T (n.396+256C>T)
n.789G>A
 gnomAD v4
14g.21391577G>CCA484993646CHD8c.6114C>G (p.Val2038=)
c.437+256C>G
c.4651C>G
c.6951C>G (p.Val2317=)
n.6107C>G
c.396+256C>G (n.396+256C>G)
n.789G>C
14g.21391577G>TCA484993647CHD8c.6114C>A (p.Val2038=)
c.437+256C>A
c.4651C>A
c.6951C>A (p.Val2317=)
n.6107C>A
c.396+256C>A (n.396+256C>A)
n.789G>T
14g.21391578A>CCA388877229CHD8c.6113T>G (p.Val2038Gly)
c.437+255T>G
c.4650T>G
c.6950T>G (p.Val2317Gly)
n.6106T>G
c.396+255T>G (n.396+255T>G)
n.790A>C
14g.21391578A>GCA388877230CHD8c.6113T>C (p.Val2038Ala)
c.437+255T>C
c.4650T>C
c.6950T>C (p.Val2317Ala)
n.6106T>C
c.396+255T>C (n.396+255T>C)
n.790A>G
 gnomAD v4
14g.21391578A>TCA388877231CHD8c.6113T>A (p.Val2038Asp)
c.437+255T>A
c.4650T>A
c.6950T>A (p.Val2317Asp)
n.6106T>A
c.396+255T>A (n.396+255T>A)
n.790A>T
14g.21391579C>ACA388877232CHD8c.6112G>T (p.Val2038Phe)
c.437+254G>T
c.4649G>T
c.6949G>T (p.Val2317Phe)
n.6105G>T
c.396+254G>T (n.396+254G>T)
n.791C>A
14g.21391579C>GCA388877233CHD8c.6112G>C (p.Val2038Leu)
c.437+254G>C
c.4649G>C
c.6949G>C (p.Val2317Leu)
n.6105G>C
c.396+254G>C (n.396+254G>C)
n.791C>G
14g.21391579C>TCA388877234CHD8c.6112G>A (p.Val2038Ile)
c.437+254G>A
c.4649G>A
c.6949G>A (p.Val2317Ile)
n.6105G>A
c.396+254G>A (n.396+254G>A)
n.791C>T
14g.21391580A>CCA484993652CHD8c.6111T>G (p.Pro2037=)
c.437+253T>G
c.4648T>G
c.6948T>G (p.Pro2316=)
n.6104T>G
c.396+253T>G (n.396+253T>G)
n.792A>C
14g.21391580A>GCA484993655CHD8c.6111T>C (p.Pro2037=)
c.437+253T>C
c.4648T>C
c.6948T>C (p.Pro2316=)
n.6104T>C
c.396+253T>C (n.396+253T>C)
n.792A>G
14g.21391580A>TCA484993654CHD8c.6111T>A (p.Pro2037=)
c.437+253T>A
c.4648T>A
c.6948T>A (p.Pro2316=)
n.6104T>A
c.396+253T>A (n.396+253T>A)
n.792A>T
14g.21391580_21391581delinsAGCA2122503414CHD8c.6110_6111delinsCT (p.Pro2037=)
c.437+252_437+253delinsCT
c.4647_4648delinsCT
c.6947_6948delinsCT (p.Pro2316=)
n.6103_6104delinsCT
c.396+252_396+253delinsCT (n.396+252_396+253delinsCT)
n.792_793delinsAG
14g.21391581G>ACA388877235CHD8c.6110C>T (p.Pro2037Leu)
c.437+252C>T
c.4647C>T
c.6947C>T (p.Pro2316Leu)
n.6103C>T
c.396+252C>T (n.396+252C>T)
n.793G>A
14g.21391581G>CCA388877236CHD8c.6110C>G (p.Pro2037Arg)
c.437+252C>G
c.4647C>G
c.6947C>G (p.Pro2316Arg)
n.6103C>G
c.396+252C>G (n.396+252C>G)
n.793G>C
14g.21391581G>TCA388877237CHD8c.6110C>A (p.Pro2037His)
c.437+252C>A
c.4647C>A
c.6947C>A (p.Pro2316His)
n.6103C>A
c.396+252C>A (n.396+252C>A)
n.793G>T
14g.21391583delCA16619832CHD8c.6110del (p.Pro2037LeufsTer?)
c.437+252del
c.4647del
c.6947del (p.Pro2316LeufsTer?)
n.6103del
c.396+252del (n.396+252del)
n.795del
 ClinVar dbSNP
14g.21391582G>ACA388877238CHD8c.6109C>T (p.Pro2037Ser)
c.437+251C>T
c.4646C>T
c.6946C>T (p.Pro2316Ser)
n.6102C>T
c.396+251C>T (n.396+251C>T)
n.794G>A
14g.21391582G>CCA388877240CHD8c.6109C>G (p.Pro2037Ala)
c.437+251C>G
c.4646C>G
c.6946C>G (p.Pro2316Ala)
n.6102C>G
c.396+251C>G (n.396+251C>G)
n.794G>C
14g.21391582G>TCA388877239CHD8c.6109C>A (p.Pro2037Thr)
c.437+251C>A
c.4646C>A
c.6946C>A (p.Pro2316Thr)
n.6102C>A
c.396+251C>A (n.396+251C>A)
n.794G>T
14g.21391583G>ACA484993664CHD8c.6108C>T (p.Ile2036=)
c.437+250C>T
c.4645C>T
c.6945C>T (p.Ile2315=)
n.6101C>T
c.396+250C>T (n.396+250C>T)
n.795G>A
 gnomAD v4
14g.21391583G>CCA388877241CHD8c.6108C>G (p.Ile2036Met)
c.437+250C>G
c.4645C>G
c.6945C>G (p.Ile2315Met)
n.6101C>G
c.396+250C>G (n.396+250C>G)
n.795G>C
 gnomAD v4
14g.21391583G=CA2122503422CHD8c.6108C= (p.Ile2036=)
c.437+250C=
c.4645C=
c.6945C= (p.Ile2315=)
n.6101C=
c.396+250C= (n.396+250C=)
n.795G=
14g.21391583G>TCA7090638CHD8c.6108C>A (p.Ile2036=)
c.437+250C>A
c.4645C>A
c.6945C>A (p.Ile2315=)
n.6101C>A
c.396+250C>A (n.396+250C>A)
n.795G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391584A=CA2122503424CHD8c.6107T= (p.Ile2036=)
c.437+249T=
c.4644T=
c.6944T= (p.Ile2315=)
n.6100T=
c.396+249T= (n.396+249T=)
n.796A=
14g.21391584A>CCA388877242CHD8c.6107T>G (p.Ile2036Ser)
c.437+249T>G
c.4644T>G
c.6944T>G (p.Ile2315Ser)
n.6100T>G
c.396+249T>G (n.396+249T>G)
n.796A>C
14g.21391584A>GCA388877243CHD8c.6107T>C (p.Ile2036Thr)
c.437+249T>C
c.4644T>C
c.6944T>C (p.Ile2315Thr)
n.6100T>C
c.396+249T>C (n.396+249T>C)
n.796A>G
 dbSNP gnomAD v3 gnomAD v4
14g.21391584A>TCA388877244CHD8c.6107T>A (p.Ile2036Asn)
c.437+249T>A
c.4644T>A
c.6944T>A (p.Ile2315Asn)
n.6100T>A
c.396+249T>A (n.396+249T>A)
n.796A>T
14g.21391585T>ACA388877245CHD8c.6106A>T (p.Ile2036Phe)
c.437+248A>T
c.4643A>T
c.6943A>T (p.Ile2315Phe)
n.6099A>T
c.396+248A>T (n.396+248A>T)
n.797T>A
14g.21391585T>CCA388877246CHD8c.6106A>G (p.Ile2036Val)
c.437+248A>G
c.4643A>G
c.6943A>G (p.Ile2315Val)
n.6099A>G
c.396+248A>G (n.396+248A>G)
n.797T>C
14g.21391585T>GCA388877247CHD8c.6106A>C (p.Ile2036Leu)
c.437+248A>C
c.4643A>C
c.6943A>C (p.Ile2315Leu)
n.6099A>C
c.396+248A>C (n.396+248A>C)
n.797T>G
14g.21391586C>ACA484993672CHD8c.6105G>T (p.Arg2035=)
c.437+247G>T
c.4642G>T
c.6942G>T (p.Arg2314=)
n.6098G>T
c.396+247G>T (n.396+247G>T)
n.798C>A
14g.21391586C>GCA484993674CHD8c.6105G>C (p.Arg2035=)
c.437+247G>C
c.4642G>C
c.6942G>C (p.Arg2314=)
n.6098G>C
c.396+247G>C (n.396+247G>C)
n.798C>G
14g.21391586C>TCA484993675CHD8c.6105G>A (p.Arg2035=)
c.437+247G>A
c.4642G>A
c.6942G>A (p.Arg2314=)
n.6098G>A
c.396+247G>A (n.396+247G>A)
n.798C>T
 gnomAD v4
14g.21391587C>ACA388877248CHD8c.6104G>T (p.Arg2035Leu)
c.437+246G>T
c.4641G>T
c.6941G>T (p.Arg2314Leu)
n.6097G>T
c.396+246G>T (n.396+246G>T)
n.799C>A
14g.21391587C=CA2122503426CHD8c.6104G= (p.Arg2035=)
c.437+246G=
c.4641G=
c.6941G= (p.Arg2314=)
n.6097G=
c.396+246G= (n.396+246G=)
n.799C=
14g.21391587C>GCA388877249CHD8c.6104G>C (p.Arg2035Pro)
c.437+246G>C
c.4641G>C
c.6941G>C (p.Arg2314Pro)
n.6097G>C
c.396+246G>C (n.396+246G>C)
n.799C>G
14g.21391587C>TCA7090639CHD8c.6104G>A (p.Arg2035Gln)
c.437+246G>A
c.4641G>A
c.6941G>A (p.Arg2314Gln)
n.6097G>A
c.396+246G>A (n.396+246G>A)
n.799C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391588G>ACA7090641CHD8c.6103C>T (p.Arg2035Trp)
c.437+245C>T
c.4640C>T
c.6940C>T (p.Arg2314Trp)
n.6096C>T
c.396+245C>T (n.396+245C>T)
n.800G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391588G>CCA7090640CHD8c.6103C>G (p.Arg2035Gly)
c.437+245C>G
c.4640C>G
c.6940C>G (p.Arg2314Gly)
n.6096C>G
c.396+245C>G (n.396+245C>G)
n.800G>C
 dbSNP ExAC gnomAD v2
14g.21391588G=CA2122503429CHD8c.6103C= (p.Arg2035=)
c.437+245C=
c.4640C=
c.6940C= (p.Arg2314=)
n.6096C=
c.396+245C= (n.396+245C=)
n.800G=
14g.21391588G>TCA484993688CHD8c.6103C>A (p.Arg2035=)
c.437+245C>A
c.4640C>A
c.6940C>A (p.Arg2314=)
n.6096C>A
c.396+245C>A (n.396+245C>A)
n.800G>T
14g.21391589G>ACA484993695CHD8c.6102C>T (p.Thr2034=)
c.437+244C>T
c.4639C>T
c.6939C>T (p.Thr2313=)
n.6095C>T
c.396+244C>T (n.396+244C>T)
n.801G>A
 COSMIC COSMIC
14g.21391589G>CCA484993697CHD8c.6102C>G (p.Thr2034=)
c.437+244C>G
c.4639C>G
c.6939C>G (p.Thr2313=)
n.6095C>G
c.396+244C>G (n.396+244C>G)
n.801G>C
 gnomAD v4
14g.21391589G>TCA484993698CHD8c.6102C>A (p.Thr2034=)
c.437+244C>A
c.4639C>A
c.6939C>A (p.Thr2313=)
n.6095C>A
c.396+244C>A (n.396+244C>A)
n.801G>T
14g.21391590G>ACA388877252CHD8c.6101C>T (p.Thr2034Ile)
c.437+243C>T
c.4638C>T
c.6938C>T (p.Thr2313Ile)
n.6094C>T
c.396+243C>T (n.396+243C>T)
n.802G>A
14g.21391590G>CCA388877250CHD8c.6101C>G (p.Thr2034Ser)
c.437+243C>G
c.4638C>G
c.6938C>G (p.Thr2313Ser)
n.6094C>G
c.396+243C>G (n.396+243C>G)
n.802G>C
14g.21391590G>TCA388877251CHD8c.6101C>A (p.Thr2034Asn)
c.437+243C>A
c.4638C>A
c.6938C>A (p.Thr2313Asn)
n.6094C>A
c.396+243C>A (n.396+243C>A)
n.802G>T
14g.21391591T>ACA388877253CHD8c.6100A>T (p.Thr2034Ser)
c.437+242A>T
c.4637A>T
c.6937A>T (p.Thr2313Ser)
n.6093A>T
c.396+242A>T (n.396+242A>T)
n.803T>A
 gnomAD v4
14g.21391591T>CCA7090642CHD8c.6100A>G (p.Thr2034Ala)
c.437+242A>G
c.4637A>G
c.6937A>G (p.Thr2313Ala)
n.6093A>G
c.396+242A>G (n.396+242A>G)
n.803T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21391591T>GCA388877254CHD8c.6100A>C (p.Thr2034Pro)
c.437+242A>C
c.4637A>C
c.6937A>C (p.Thr2313Pro)
n.6093A>C
c.396+242A>C (n.396+242A>C)
n.803T>G
14g.21391591T=CA2122503433CHD8c.6100A= (p.Thr2034=)
c.437+242A=
c.4637A=
c.6937A= (p.Thr2313=)
n.6093A=
c.396+242A= (n.396+242A=)
n.803T=
14g.21391592C>ACA388877255CHD8c.6099G>T (p.Glu2033Asp)
c.437+241G>T
c.4636G>T
c.6936G>T (p.Glu2312Asp)
n.6092G>T
c.396+241G>T (n.396+241G>T)
n.804C>A
 gnomAD v4
14g.21391592C>GCA388877256CHD8c.6099G>C (p.Glu2033Asp)
c.437+241G>C
c.4636G>C
c.6936G>C (p.Glu2312Asp)
n.6092G>C
c.396+241G>C (n.396+241G>C)
n.804C>G
14g.21391592C>TCA484993705CHD8c.6099G>A (p.Glu2033=)
c.437+241G>A
c.4636G>A
c.6936G>A (p.Glu2312=)
n.6092G>A
c.396+241G>A (n.396+241G>A)
n.804C>T

Number of alleles fetched