Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393614C>ACA388880249CHD8c.5344G>T (p.Val1782Phe)
c.3881G>T
c.6181G>T (p.Val2061Phe)
n.5337G>T
14g.21393614C>GCA388880250CHD8c.5344G>C (p.Val1782Leu)
c.3881G>C
c.6181G>C (p.Val2061Leu)
n.5337G>C
14g.21393614C>TCA388880251CHD8c.5344G>A (p.Val1782Ile)
c.3881G>A
c.6181G>A (p.Val2061Ile)
n.5337G>A
14g.21393615T>ACA484995050CHD8c.5343A>T (p.Pro1781=)
c.3880A>T
c.6180A>T (p.Pro2060=)
n.5336A>T
14g.21393615T>CCA484995051CHD8c.5343A>G (p.Pro1781=)
c.3880A>G
c.6180A>G (p.Pro2060=)
n.5336A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393615T>GCA484995052CHD8c.5343A>C (p.Pro1781=)
c.3880A>C
c.6180A>C (p.Pro2060=)
n.5336A>C
14g.21393615T=CA2122506091CHD8c.5343A= (p.Pro1781=)
c.3880A=
c.6180A= (p.Pro2060=)
n.5336A=
14g.21393616G>ACA388880253CHD8c.5342C>T (p.Pro1781Leu)
c.3879C>T
c.6179C>T (p.Pro2060Leu)
n.5335C>T
14g.21393616G>CCA7090826CHD8c.5342C>G (p.Pro1781Arg)
c.3879C>G
c.6179C>G (p.Pro2060Arg)
n.5335C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393616G=CA2122506092CHD8c.5342C= (p.Pro1781=)
c.3879C=
c.6179C= (p.Pro2060=)
n.5335C=
14g.21393616G>TCA388880252CHD8c.5342C>A (p.Pro1781Gln)
c.3879C>A
c.6179C>A (p.Pro2060Gln)
n.5335C>A
14g.21393617G>ACA7090827CHD8c.5341C>T (p.Pro1781Ser)
c.3878C>T
c.6178C>T (p.Pro2060Ser)
n.5334C>T
 dbSNP ExAC gnomAD v2
14g.21393617G>CCA388880255CHD8c.5341C>G (p.Pro1781Ala)
c.3878C>G
c.6178C>G (p.Pro2060Ala)
n.5334C>G
14g.21393617G=CA2122506094CHD8c.5341C= (p.Pro1781=)
c.3878C=
c.6178C= (p.Pro2060=)
n.5334C=
14g.21393617G>TCA388880254CHD8c.5341C>A (p.Pro1781Thr)
c.3878C>A
c.6178C>A (p.Pro2060Thr)
n.5334C>A
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

Number of alleles fetched