Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393618T>ACA484995055CHD8c.5340A>T (p.Pro1780=)
c.3877A>T
c.6177A>T (p.Pro2059=)
n.5333A>T
14g.21393618T>CCA484995057CHD8c.5340A>G (p.Pro1780=)
c.3877A>G
c.6177A>G (p.Pro2059=)
n.5333A>G
14g.21393618T>GCA484995056CHD8c.5340A>C (p.Pro1780=)
c.3877A>C
c.6177A>C (p.Pro2059=)
n.5333A>C
14g.21393619G>ACA388880256CHD8c.5339C>T (p.Pro1780Leu)
c.3876C>T
c.6176C>T (p.Pro2059Leu)
n.5332C>T
 dbSNP gnomAD v4
14g.21393619G>CCA388880257CHD8c.5339C>G (p.Pro1780Arg)
c.3876C>G
c.6176C>G (p.Pro2059Arg)
n.5332C>G
14g.21393619G=CA2122506096CHD8c.5339C= (p.Pro1780=)
c.3876C=
c.6176C= (p.Pro2059=)
n.5332C=
14g.21393619G>TCA388880258CHD8c.5339C>A (p.Pro1780Gln)
c.3876C>A
c.6176C>A (p.Pro2059Gln)
n.5332C>A
14g.21393620G>ACA388880259CHD8c.5338C>T (p.Pro1780Ser)
c.3875C>T
c.6175C>T (p.Pro2059Ser)
n.5331C>T
14g.21393620G>CCA388880260CHD8c.5338C>G (p.Pro1780Ala)
c.3875C>G
c.6175C>G (p.Pro2059Ala)
n.5331C>G
14g.21393620G>TCA388880261CHD8c.5338C>A (p.Pro1780Thr)
c.3875C>A
c.6175C>A (p.Pro2059Thr)
n.5331C>A
14g.21393621A>CCA484995058CHD8c.5337T>G (p.Val1779=)
c.3874T>G
c.6174T>G (p.Val2058=)
n.5330T>G
14g.21393621A>GCA484995059CHD8c.5337T>C (p.Val1779=)
c.3874T>C
c.6174T>C (p.Val2058=)
n.5330T>C
 gnomAD v4
14g.21393621A>TCA484995060CHD8c.5337T>A (p.Val1779=)
c.3874T>A
c.6174T>A (p.Val2058=)
n.5330T>A
14g.21393622A>CCA388880264CHD8c.5336T>G (p.Val1779Gly)
c.3873T>G
c.6173T>G (p.Val2058Gly)
n.5329T>G
14g.21393622A>GCA388880262CHD8c.5336T>C (p.Val1779Ala)
c.3873T>C
c.6173T>C (p.Val2058Ala)
n.5329T>C
14g.21393622A>TCA388880263CHD8c.5336T>A (p.Val1779Asp)
c.3873T>A
c.6173T>A (p.Val2058Asp)
n.5329T>A
14g.21393623C>ACA388880265CHD8c.5335G>T (p.Val1779Phe)
c.3872G>T
c.6172G>T (p.Val2058Phe)
n.5328G>T
14g.21393623C>GCA388880266CHD8c.5335G>C (p.Val1779Leu)
c.3872G>C
c.6172G>C (p.Val2058Leu)
n.5328G>C
14g.21393623C>TCA388880267CHD8c.5335G>A (p.Val1779Ile)
c.3872G>A
c.6172G>A (p.Val2058Ile)
n.5328G>A
14g.21393624A=CA2122506098CHD8c.5334T= (p.Ser1778=)
c.3871T=
c.6171T= (p.Ser2057=)
n.5327T=
14g.21393624A>CCA388880268CHD8c.5334T>G (p.Ser1778Arg)
c.3871T>G
c.6171T>G (p.Ser2057Arg)
n.5327T>G
14g.21393624A>GCA484995063CHD8c.5334T>C (p.Ser1778=)
c.3871T>C
c.6171T>C (p.Ser2057=)
n.5327T>C
 dbSNP gnomAD v4
14g.21393624A>TCA388880269CHD8c.5334T>A (p.Ser1778Arg)
c.3871T>A
c.6171T>A (p.Ser2057Arg)
n.5327T>A
14g.21393625C>ACA388880272CHD8c.5333G>T (p.Ser1778Ile)
c.3870G>T
c.6170G>T (p.Ser2057Ile)
n.5326G>T
14g.21393625C=CA2122506099CHD8c.5333G= (p.Ser1778=)
c.3870G=
c.6170G= (p.Ser2057=)
n.5326G=
14g.21393625C>GCA388880270CHD8c.5333G>C (p.Ser1778Thr)
c.3870G>C
c.6170G>C (p.Ser2057Thr)
n.5326G>C
 gnomAD v4
14g.21393625C>TCA388880271CHD8c.5333G>A (p.Ser1778Asn)
c.3870G>A
c.6170G>A (p.Ser2057Asn)
n.5326G>A
 dbSNP
14g.21393626T>ACA388880273CHD8c.5332A>T (p.Ser1778Cys)
c.3869A>T
c.6169A>T (p.Ser2057Cys)
n.5325A>T
14g.21393626T>CCA388880274CHD8c.5332A>G (p.Ser1778Gly)
c.3869A>G
c.6169A>G (p.Ser2057Gly)
n.5325A>G
14g.21393626T>GCA388880275CHD8c.5332A>C (p.Ser1778Arg)
c.3869A>C
c.6169A>C (p.Ser2057Arg)
n.5325A>C
 ClinVar
14g.21393627C>ACA484995065CHD8c.5331G>T (p.Arg1777=)
c.3868G>T
c.6168G>T (p.Arg2056=)
n.5324G>T
14g.21393627C=CA2122506101CHD8c.5331G= (p.Arg1777=)
c.3868G=
c.6168G= (p.Arg2056=)
n.5324G=
14g.21393627C>GCA484995066CHD8c.5331G>C (p.Arg1777=)
c.3868G>C
c.6168G>C (p.Arg2056=)
n.5324G>C
14g.21393627C>TCA7090828CHD8c.5331G>A (p.Arg1777=)
c.3868G>A
c.6168G>A (p.Arg2056=)
n.5324G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393628C>ACA388880276CHD8c.5330G>T (p.Arg1777Leu)
c.3867G>T
c.6167G>T (p.Arg2056Leu)
n.5323G>T
14g.21393628C=CA2122506103CHD8c.5330G= (p.Arg1777=)
c.3867G=
c.6167G= (p.Arg2056=)
n.5323G=
14g.21393628C>GCA257593057CHD8c.5330G>C (p.Arg1777Pro)
c.3867G>C
c.6167G>C (p.Arg2056Pro)
n.5323G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393628C>TCA7090829CHD8c.5330G>A (p.Arg1777Gln)
c.3867G>A
c.6167G>A (p.Arg2056Gln)
n.5323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393629G>ACA7090830CHD8c.5329C>T (p.Arg1777Trp)
c.3866C>T
c.6166C>T (p.Arg2056Trp)
n.5322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393629G>CCA388880277CHD8c.5329C>G (p.Arg1777Gly)
c.3866C>G
c.6166C>G (p.Arg2056Gly)
n.5322C>G
14g.21393629G=CA2122506105CHD8c.5329C= (p.Arg1777=)
c.3866C=
c.6166C= (p.Arg2056=)
n.5322C=
14g.21393629G>TCA484995068CHD8c.5329C>A (p.Arg1777=)
c.3866C>A
c.6166C>A (p.Arg2056=)
n.5322C>A
14g.21393630G>ACA484995070CHD8c.5328C>T (p.Ser1776=)
c.3865C>T
c.6165C>T (p.Ser2055=)
n.5321C>T
14g.21393630G>CCA484995072CHD8c.5328C>G (p.Ser1776=)
c.3865C>G
c.6165C>G (p.Ser2055=)
n.5321C>G
14g.21393630G>TCA484995071CHD8c.5328C>A (p.Ser1776=)
c.3865C>A
c.6165C>A (p.Ser2055=)
n.5321C>A
14g.21393631G>ACA388880278CHD8c.5327C>T (p.Ser1776Phe)
c.3864C>T
c.6164C>T (p.Ser2055Phe)
n.5320C>T
 gnomAD v4
14g.21393631G>CCA388880279CHD8c.5327C>G (p.Ser1776Cys)
c.3864C>G
c.6164C>G (p.Ser2055Cys)
n.5320C>G
14g.21393631G>TCA388880280CHD8c.5327C>A (p.Ser1776Tyr)
c.3864C>A
c.6164C>A (p.Ser2055Tyr)
n.5320C>A
14g.21393632A>CCA388880281CHD8c.5326T>G (p.Ser1776Ala)
c.3863T>G
c.6163T>G (p.Ser2055Ala)
n.5319T>G
14g.21393632A>GCA388880283CHD8c.5326T>C (p.Ser1776Pro)
c.3863T>C
c.6163T>C (p.Ser2055Pro)
n.5319T>C

Number of alleles fetched