Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.60841853_60841854delinsCT	CA1788122770	CHD7	c.4651_4652delinsCT (p.Leu1551=) c.1717-20376_1717-20375delinsCT (n.1717-20376_1717-20375delinsCT) c.2638_2639delinsCT (p.Leu880=) c.2188_2189delinsCT (p.Leu730=) c.1396_1397delinsCT (p.Leu466=)
8	g.60841854del	CA915945699	CHD7	c.4652del (p.Leu1551ArgfsTer8) c.1717-20375del (n.1717-20375del) c.2639del (p.Leu880ArgfsTer8) c.2189del (p.Leu730ArgfsTer8) c.1397del (p.Leu466ArgfsTer8)	ClinVar dbSNP
8	g.60841854T>A	CA371318913	CHD7	c.4652T>A (p.Leu1551Gln) c.1717-20375T>A (n.1717-20375T>A) c.2639T>A (p.Leu880Gln) c.2189T>A (p.Leu730Gln) c.1397T>A (p.Leu466Gln)
8	g.60841854T>C	CA371318914	CHD7	c.4652T>C (p.Leu1551Pro) c.1717-20375T>C (n.1717-20375T>C) c.2639T>C (p.Leu880Pro) c.2189T>C (p.Leu730Pro) c.1397T>C (p.Leu466Pro)
8	g.60841854T>G	CA371318916	CHD7	c.4652T>G (p.Leu1551Arg) c.1717-20375T>G (n.1717-20375T>G) c.2639T>G (p.Leu880Arg) c.2189T>G (p.Leu730Arg) c.1397T>G (p.Leu466Arg)
8	g.60841855G>A	CA4760176	CHD7	c.4653G>A (p.Leu1551=) c.1717-20374G>A (n.1717-20374G>A) c.2640G>A (p.Leu880=) c.2190G>A (p.Leu730=) c.1398G>A (p.Leu466=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841855G>C	CA460848112	CHD7	c.4653G>C (p.Leu1551=) c.1717-20374G>C (n.1717-20374G>C) c.2640G>C (p.Leu880=) c.2190G>C (p.Leu730=) c.1398G>C (p.Leu466=)
8	g.60841855G=	CA1788122784	CHD7	c.4653G= (p.Leu1551=) c.1717-20374G= (n.1717-20374G=) c.2640G= (p.Leu880=) c.2190G= (p.Leu730=) c.1398G= (p.Leu466=)
8	g.60841855G>T	CA460848113	CHD7	c.4653G>T (p.Leu1551=) c.1717-20374G>T (n.1717-20374G>T) c.2640G>T (p.Leu880=) c.2190G>T (p.Leu730=) c.1398G>T (p.Leu466=)
8	g.60841856G>A	CA371318919	CHD7	c.4654G>A (p.Val1552Ile) c.1717-20373G>A (n.1717-20373G>A) c.2641G>A (p.Val881Ile) c.2191G>A (p.Val731Ile) c.1399G>A (p.Val467Ile)
8	g.60841856G>C	CA371318920	CHD7	c.4654G>C (p.Val1552Leu) c.1717-20373G>C (n.1717-20373G>C) c.2641G>C (p.Val881Leu) c.2191G>C (p.Val731Leu) c.1399G>C (p.Val467Leu)
8	g.60841856G=	CA1788122789	CHD7	c.4654G= (p.Val1552=) c.1717-20373G= (n.1717-20373G=) c.2641G= (p.Val881=) c.2191G= (p.Val731=) c.1399G= (p.Val467=)
8	g.60841856G>T	CA371318921	CHD7	c.4654G>T (p.Val1552Phe) c.1717-20373G>T (n.1717-20373G>T) c.2641G>T (p.Val881Phe) c.2191G>T (p.Val731Phe) c.1399G>T (p.Val467Phe)	ClinVar dbSNP
8	g.60841857T>A	CA371318922	CHD7	c.4655T>A (p.Val1552Asp) c.1717-20372T>A (n.1717-20372T>A) c.2642T>A (p.Val881Asp) c.2192T>A (p.Val731Asp) c.1400T>A (p.Val467Asp)
8	g.60841857T>C	CA371318923	CHD7	c.4655T>C (p.Val1552Ala) c.1717-20372T>C (n.1717-20372T>C) c.2642T>C (p.Val881Ala) c.2192T>C (p.Val731Ala) c.1400T>C (p.Val467Ala)	gnomAD v4
8	g.60841857T>G	CA371318925	CHD7	c.4655T>G (p.Val1552Gly) c.1717-20372T>G (n.1717-20372T>G) c.2642T>G (p.Val881Gly) c.2192T>G (p.Val731Gly) c.1400T>G (p.Val467Gly)
8	g.60841858dup	CA2695209730	CHD7	c.4656dup (p.Ile1553TyrfsTer2) c.1717-20371dup (n.1717-20371dup) c.2643dup (p.Ile882TyrfsTer2) c.2193dup (p.Ile732TyrfsTer2) c.1401dup (p.Ile468TyrfsTer2)
8	g.60841858T>A	CA460848115	CHD7	c.4656T>A (p.Val1552=) c.1717-20371T>A (n.1717-20371T>A) c.2643T>A (p.Val881=) c.2193T>A (p.Val731=) c.1401T>A (p.Val467=)
8	g.60841858T>C	CA4760177	CHD7	c.4656T>C (p.Val1552=) c.1717-20371T>C (n.1717-20371T>C) c.2643T>C (p.Val881=) c.2193T>C (p.Val731=) c.1401T>C (p.Val467=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841858T>G	CA460848116	CHD7	c.4656T>G (p.Val1552=) c.1717-20371T>G (n.1717-20371T>G) c.2643T>G (p.Val881=) c.2193T>G (p.Val731=) c.1401T>G (p.Val467=)
8	g.60841858T=	CA1788122798	CHD7	c.4656T= (p.Val1552=) c.1717-20371T= (n.1717-20371T=) c.2643T= (p.Val881=) c.2193T= (p.Val731=) c.1401T= (p.Val467=)
8	g.60841859A>C	CA371318930	CHD7	c.4657A>C (p.Ile1553Leu) c.1717-20370A>C (n.1717-20370A>C) c.2644A>C (p.Ile882Leu) c.2194A>C (p.Ile732Leu) c.1402A>C (p.Ile468Leu)
8	g.60841859A>G	CA371318927	CHD7	c.4657A>G (p.Ile1553Val) c.1717-20370A>G (n.1717-20370A>G) c.2644A>G (p.Ile882Val) c.2194A>G (p.Ile732Val) c.1402A>G (p.Ile468Val)
8	g.60841859A>T	CA371318929	CHD7	c.4657A>T (p.Ile1553Phe) c.1717-20370A>T (n.1717-20370A>T) c.2644A>T (p.Ile882Phe) c.2194A>T (p.Ile732Phe) c.1402A>T (p.Ile468Phe)
8	g.60841860T>A	CA371318932	CHD7	c.4658T>A (p.Ile1553Asn) c.1717-20369T>A (n.1717-20369T>A) c.2645T>A (p.Ile882Asn) c.2195T>A (p.Ile732Asn) c.1403T>A (p.Ile468Asn)
8	g.60841860T>C	CA371318933	CHD7	c.4658T>C (p.Ile1553Thr) c.1717-20369T>C (n.1717-20369T>C) c.2645T>C (p.Ile882Thr) c.2195T>C (p.Ile732Thr) c.1403T>C (p.Ile468Thr)	gnomAD v4
8	g.60841860T>G	CA371318935	CHD7	c.4658T>G (p.Ile1553Ser) c.1717-20369T>G (n.1717-20369T>G) c.2645T>G (p.Ile882Ser) c.2195T>G (p.Ile732Ser) c.1403T>G (p.Ile468Ser)
8	g.60841861T>A	CA4760178	CHD7	c.4659T>A (p.Ile1553=) c.1717-20368T>A (n.1717-20368T>A) c.2646T>A (p.Ile882=) c.2196T>A (p.Ile732=) c.1404T>A (p.Ile468=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841861T>C	CA460848119	CHD7	c.4659T>C (p.Ile1553=) c.1717-20368T>C (n.1717-20368T>C) c.2646T>C (p.Ile882=) c.2196T>C (p.Ile732=) c.1404T>C (p.Ile468=)
8	g.60841861T>G	CA371318937	CHD7	c.4659T>G (p.Ile1553Met) c.1717-20368T>G (n.1717-20368T>G) c.2646T>G (p.Ile882Met) c.2196T>G (p.Ile732Met) c.1404T>G (p.Ile468Met)
8	g.60841861T=	CA1788122807	CHD7	c.4659T= (p.Ile1553=) c.1717-20368T= (n.1717-20368T=) c.2646T= (p.Ile882=) c.2196T= (p.Ile732=) c.1404T= (p.Ile468=)
8	g.60841862G>A	CA371318938	CHD7	c.4660G>A (p.Asp1554Asn) c.1717-20367G>A (n.1717-20367G>A) c.2647G>A (p.Asp883Asn) c.2197G>A (p.Asp733Asn) c.1405G>A (p.Asp469Asn)	dbSNP gnomAD v2
8	g.60841862G>C	CA371318939	CHD7	c.4660G>C (p.Asp1554His) c.1717-20367G>C (n.1717-20367G>C) c.2647G>C (p.Asp883His) c.2197G>C (p.Asp733His) c.1405G>C (p.Asp469His)
8	g.60841862G=	CA1788122815	CHD7	c.4660G= (p.Asp1554=) c.1717-20367G= (n.1717-20367G=) c.2647G= (p.Asp883=) c.2197G= (p.Asp733=) c.1405G= (p.Asp469=)
8	g.60841862G>T	CA371318940	CHD7	c.4660G>T (p.Asp1554Tyr) c.1717-20367G>T (n.1717-20367G>T) c.2647G>T (p.Asp883Tyr) c.2197G>T (p.Asp733Tyr) c.1405G>T (p.Asp469Tyr)
8	g.60841863A>C	CA371318942	CHD7	c.4661A>C (p.Asp1554Ala) c.1717-20366A>C (n.1717-20366A>C) c.2648A>C (p.Asp883Ala) c.2198A>C (p.Asp733Ala) c.1406A>C (p.Asp469Ala)
8	g.60841863A>G	CA371318943	CHD7	c.4661A>G (p.Asp1554Gly) c.1717-20366A>G (n.1717-20366A>G) c.2648A>G (p.Asp883Gly) c.2198A>G (p.Asp733Gly) c.1406A>G (p.Asp469Gly)
8	g.60841863A>T	CA371318945	CHD7	c.4661A>T (p.Asp1554Val) c.1717-20366A>T (n.1717-20366A>T) c.2648A>T (p.Asp883Val) c.2198A>T (p.Asp733Val) c.1406A>T (p.Asp469Val)
8	g.60841863_60841864delinsAT	CA1788122822	CHD7	c.4661_4662delinsAT (p.Asp1554=) c.1717-20366_1717-20365delinsAT (n.1717-20366_1717-20365delinsAT) c.2648_2649delinsAT (p.Asp883=) c.2198_2199delinsAT (p.Asp733=) c.1406_1407delinsAT (p.Asp469=)
8	g.60841864del	CA891843137	CHD7	c.4662del (p.Asp1554GlufsTer5) c.1717-20365del (n.1717-20365del) c.2649del (p.Asp883GlufsTer5) c.2199del (p.Asp733GlufsTer5) c.1407del (p.Asp469GlufsTer5)	ClinVar dbSNP
8	g.60841864T>A	CA371318947	CHD7	c.4662T>A (p.Asp1554Glu) c.1717-20365T>A (n.1717-20365T>A) c.2649T>A (p.Asp883Glu) c.2199T>A (p.Asp733Glu) c.1407T>A (p.Asp469Glu)
8	g.60841864T>C	CA4760179	CHD7	c.4662T>C (p.Asp1554=) c.1717-20365T>C (n.1717-20365T>C) c.2649T>C (p.Asp883=) c.2199T>C (p.Asp733=) c.1407T>C (p.Asp469=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841864T>G	CA371318946	CHD7	c.4662T>G (p.Asp1554Glu) c.1717-20365T>G (n.1717-20365T>G) c.2649T>G (p.Asp883Glu) c.2199T>G (p.Asp733Glu) c.1407T>G (p.Asp469Glu)
8	g.60841864T=	CA1788122835	CHD7	c.4662T= (p.Asp1554=) c.1717-20365T= (n.1717-20365T=) c.2649T= (p.Asp883=) c.2199T= (p.Asp733=) c.1407T= (p.Asp469=)
8	g.60841865A>C	CA371318948	CHD7	c.4663A>C (p.Thr1555Pro) c.1717-20364A>C (n.1717-20364A>C) c.2650A>C (p.Thr884Pro) c.2200A>C (p.Thr734Pro) c.1408A>C (p.Thr470Pro)
8	g.60841865A>G	CA371318950	CHD7	c.4663A>G (p.Thr1555Ala) c.1717-20364A>G (n.1717-20364A>G) c.2650A>G (p.Thr884Ala) c.2200A>G (p.Thr734Ala) c.1408A>G (p.Thr470Ala)
8	g.60841865A>T	CA371318952	CHD7	c.4663A>T (p.Thr1555Ser) c.1717-20364A>T (n.1717-20364A>T) c.2650A>T (p.Thr884Ser) c.2200A>T (p.Thr734Ser) c.1408A>T (p.Thr470Ser)
8	g.60841866C>A	CA371318953	CHD7	c.4664C>A (p.Thr1555Asn) c.1717-20363C>A (n.1717-20363C>A) c.2651C>A (p.Thr884Asn) c.2201C>A (p.Thr734Asn) c.1409C>A (p.Thr470Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841866C=	CA1788122852	CHD7	c.4664C= (p.Thr1555=) c.1717-20363C= (n.1717-20363C=) c.2651C= (p.Thr884=) c.2201C= (p.Thr734=) c.1409C= (p.Thr470=)
8	g.60841866C>G	CA371318954	CHD7	c.4664C>G (p.Thr1555Ser) c.1717-20363C>G (n.1717-20363C>G) c.2651C>G (p.Thr884Ser) c.2201C>G (p.Thr734Ser) c.1409C>G (p.Thr470Ser)	gnomAD v4
8	g.60841866C>T	CA371318955	CHD7	c.4664C>T (p.Thr1555Ile) c.1717-20363C>T (n.1717-20363C>T) c.2651C>T (p.Thr884Ile) c.2201C>T (p.Thr734Ile) c.1409C>T (p.Thr470Ile)
8	g.60841867del	CA2695209732	CHD7	c.4665del (p.Pro1556GlnfsTer3) c.1717-20362del (n.1717-20362del) c.2652del (p.Pro885GlnfsTer3) c.2202del (p.Pro735GlnfsTer3) c.1410del (p.Pro471GlnfsTer3)
8	g.60841867T>A	CA460848122	CHD7	c.4665T>A (p.Thr1555=) c.1717-20362T>A (n.1717-20362T>A) c.2652T>A (p.Thr884=) c.2202T>A (p.Thr734=) c.1410T>A (p.Thr470=)
8	g.60841867T>C	CA460848123	CHD7	c.4665T>C (p.Thr1555=) c.1717-20362T>C (n.1717-20362T>C) c.2652T>C (p.Thr884=) c.2202T>C (p.Thr734=) c.1410T>C (p.Thr470=)	gnomAD v4 COSMIC
8	g.60841867T>G	CA460848124	CHD7	c.4665T>G (p.Thr1555=) c.1717-20362T>G (n.1717-20362T>G) c.2652T>G (p.Thr884=) c.2202T>G (p.Thr734=) c.1410T>G (p.Thr470=)
8	g.60841868C>A	CA371318957	CHD7	c.4666C>A (p.Pro1556Thr) c.1717-20361C>A (n.1717-20361C>A) c.2653C>A (p.Pro885Thr) c.2203C>A (p.Pro735Thr) c.1411C>A (p.Pro471Thr)
8	g.60841868C>G	CA371318958	CHD7	c.4666C>G (p.Pro1556Ala) c.1717-20361C>G (n.1717-20361C>G) c.2653C>G (p.Pro885Ala) c.2203C>G (p.Pro735Ala) c.1411C>G (p.Pro471Ala)	ClinVar gnomAD v4
8	g.60841868C>T	CA371318959	CHD7	c.4666C>T (p.Pro1556Ser) c.1717-20361C>T (n.1717-20361C>T) c.2653C>T (p.Pro885Ser) c.2203C>T (p.Pro735Ser) c.1411C>T (p.Pro471Ser)
8	g.60841869dup	CA2573143261	CHD7	c.4667dup (p.Arg1557LysfsTer16) c.1717-20360dup (n.1717-20360dup) c.2654dup (p.Arg886LysfsTer16) c.2204dup (p.Arg736LysfsTer16) c.1412dup (p.Arg472LysfsTer16)	ClinVar dbSNP
8	g.60841869del	CA2695209733	CHD7	c.4667del (p.Pro1556GlnfsTer3) c.1717-20360del (n.1717-20360del) c.2654del (p.Pro885GlnfsTer3) c.2204del (p.Pro735GlnfsTer3) c.1412del (p.Pro471GlnfsTer3)
8	g.60841869C>A	CA371318961	CHD7	c.4667C>A (p.Pro1556Gln) c.1717-20360C>A (n.1717-20360C>A) c.2654C>A (p.Pro885Gln) c.2204C>A (p.Pro735Gln) c.1412C>A (p.Pro471Gln)	gnomAD v4
8	g.60841869C>G	CA371318963	CHD7	c.4667C>G (p.Pro1556Arg) c.1717-20360C>G (n.1717-20360C>G) c.2654C>G (p.Pro885Arg) c.2204C>G (p.Pro735Arg) c.1412C>G (p.Pro471Arg)
8	g.60841869C>T	CA371318964	CHD7	c.4667C>T (p.Pro1556Leu) c.1717-20360C>T (n.1717-20360C>T) c.2654C>T (p.Pro885Leu) c.2204C>T (p.Pro735Leu) c.1412C>T (p.Pro471Leu)
8	g.60841870A>C	CA460848126	CHD7	c.4668A>C (p.Pro1556=) c.1717-20359A>C (n.1717-20359A>C) c.2655A>C (p.Pro885=) c.2205A>C (p.Pro735=) c.1413A>C (p.Pro471=)
8	g.60841870A>G	CA460848128	CHD7	c.4668A>G (p.Pro1556=) c.1717-20359A>G (n.1717-20359A>G) c.2655A>G (p.Pro885=) c.2205A>G (p.Pro735=) c.1413A>G (p.Pro471=)
8	g.60841870A>T	CA460848129	CHD7	c.4668A>T (p.Pro1556=) c.1717-20359A>T (n.1717-20359A>T) c.2655A>T (p.Pro885=) c.2205A>T (p.Pro735=) c.1413A>T (p.Pro471=)
8	g.60841871del	CA2695209734	CHD7	c.4669del (p.Arg1557GlufsTer2) c.1717-20358del (n.1717-20358del) c.2656del (p.Arg886GlufsTer2) c.2206del (p.Arg736GlufsTer2) c.1414del (p.Arg472GlufsTer2)
8	g.60841871A=	CA1788122856	CHD7	c.4669A= (p.Arg1557=) c.1717-20358A= (n.1717-20358A=) c.2656A= (p.Arg886=) c.2206A= (p.Arg736=) c.1414A= (p.Arg472=)
8	g.60841871A>C	CA460848130	CHD7	c.4669A>C (p.Arg1557=) c.1717-20358A>C (n.1717-20358A>C) c.2656A>C (p.Arg886=) c.2206A>C (p.Arg736=) c.1414A>C (p.Arg472=)
8	g.60841871A>G	CA371318967	CHD7	c.4669A>G (p.Arg1557Gly) c.1717-20358A>G (n.1717-20358A>G) c.2656A>G (p.Arg886Gly) c.2206A>G (p.Arg736Gly) c.1414A>G (p.Arg472Gly)	ClinVar dbSNP
8	g.60841871A>T	CA371318966	CHD7	c.4669A>T (p.Arg1557Ter) c.1717-20358A>T (n.1717-20358A>T) c.2656A>T (p.Arg886Ter) c.2206A>T (p.Arg736Ter) c.1414A>T (p.Arg472Ter)
8	g.60841872G>A	CA371318969	CHD7	c.4670G>A (p.Arg1557Lys) c.1717-20357G>A (n.1717-20357G>A) c.2657G>A (p.Arg886Lys) c.2207G>A (p.Arg736Lys) c.1415G>A (p.Arg472Lys)
8	g.60841872G>C	CA371318971	CHD7	c.4670G>C (p.Arg1557Thr) c.1717-20357G>C (n.1717-20357G>C) c.2657G>C (p.Arg886Thr) c.2207G>C (p.Arg736Thr) c.1415G>C (p.Arg472Thr)
8	g.60841872G>T	CA371318970	CHD7	c.4670G>T (p.Arg1557Ile) c.1717-20357G>T (n.1717-20357G>T) c.2657G>T (p.Arg886Ile) c.2207G>T (p.Arg736Ile) c.1415G>T (p.Arg472Ile)	gnomAD v4
8	g.60841873A>C	CA371318973	CHD7	c.4671A>C (p.Arg1557Ser) c.1717-20356A>C (n.1717-20356A>C) c.2658A>C (p.Arg886Ser) c.2208A>C (p.Arg736Ser) c.1416A>C (p.Arg472Ser)
8	g.60841873A>G	CA460848131	CHD7	c.4671A>G (p.Arg1557=) c.1717-20356A>G (n.1717-20356A>G) c.2658A>G (p.Arg886=) c.2208A>G (p.Arg736=) c.1416A>G (p.Arg472=)	ClinVar dbSNP
8	g.60841873A>T	CA371318974	CHD7	c.4671A>T (p.Arg1557Ser) c.1717-20356A>T (n.1717-20356A>T) c.2658A>T (p.Arg886Ser) c.2208A>T (p.Arg736Ser) c.1416A>T (p.Arg472Ser)
8	g.60841874G>A	CA371318976	CHD7	c.4672G>A (p.Val1558Met) c.1717-20355G>A (n.1717-20355G>A) c.2659G>A (p.Val887Met) c.2209G>A (p.Val737Met) c.1417G>A (p.Val473Met)	gnomAD v4
8	g.60841874G>C	CA371318977	CHD7	c.4672G>C (p.Val1558Leu) c.1717-20355G>C (n.1717-20355G>C) c.2659G>C (p.Val887Leu) c.2209G>C (p.Val737Leu) c.1417G>C (p.Val473Leu)	gnomAD v4
8	g.60841874G>T	CA371318979	CHD7	c.4672G>T (p.Val1558Leu) c.1717-20355G>T (n.1717-20355G>T) c.2659G>T (p.Val887Leu) c.2209G>T (p.Val737Leu) c.1417G>T (p.Val473Leu)
8	g.60841875T>A	CA371318980	CHD7	c.4673T>A (p.Val1558Glu) c.1717-20354T>A (n.1717-20354T>A) c.2660T>A (p.Val887Glu) c.2210T>A (p.Val737Glu) c.1418T>A (p.Val473Glu)
8	g.60841875T>C	CA371318982	CHD7	c.4673T>C (p.Val1558Ala) c.1717-20354T>C (n.1717-20354T>C) c.2660T>C (p.Val887Ala) c.2210T>C (p.Val737Ala) c.1418T>C (p.Val473Ala)
8	g.60841875T>G	CA371318983	CHD7	c.4673T>G (p.Val1558Gly) c.1717-20354T>G (n.1717-20354T>G) c.2660T>G (p.Val887Gly) c.2210T>G (p.Val737Gly) c.1418T>G (p.Val473Gly)
8	g.60841876G>A	CA460848133	CHD7	c.4674G>A (p.Val1558=) c.1717-20353G>A (n.1717-20353G>A) c.2661G>A (p.Val887=) c.2211G>A (p.Val737=) c.1419G>A (p.Val473=)
8	g.60841876G>C	CA460848134	CHD7	c.4674G>C (p.Val1558=) c.1717-20353G>C (n.1717-20353G>C) c.2661G>C (p.Val887=) c.2211G>C (p.Val737=) c.1419G>C (p.Val473=)
8	g.60841876G>T	CA460848135	CHD7	c.4674G>T (p.Val1558=) c.1717-20353G>T (n.1717-20353G>T) c.2661G>T (p.Val887=) c.2211G>T (p.Val737=) c.1419G>T (p.Val473=)
8	g.60841877A>C	CA460848136	CHD7	c.4675A>C (p.Arg1559=) c.1717-20352A>C (n.1717-20352A>C) c.2662A>C (p.Arg888=) c.2212A>C (p.Arg738=) c.1420A>C (p.Arg474=)
8	g.60841877A>G	CA371318985	CHD7	c.4675A>G (p.Arg1559Gly) c.1717-20352A>G (n.1717-20352A>G) c.2662A>G (p.Arg888Gly) c.2212A>G (p.Arg738Gly) c.1420A>G (p.Arg474Gly)
8	g.60841877A>T	CA371318987	CHD7	c.4675A>T (p.Arg1559Ter) c.1717-20352A>T (n.1717-20352A>T) c.2662A>T (p.Arg888Ter) c.2212A>T (p.Arg738Ter) c.1420A>T (p.Arg474Ter)
8	g.60841878G>A	CA371318988	CHD7	c.4676G>A (p.Arg1559Lys) c.1717-20351G>A (n.1717-20351G>A) c.2663G>A (p.Arg888Lys) c.2213G>A (p.Arg738Lys) c.1421G>A (p.Arg474Lys)
8	g.60841878G>C	CA371318990	CHD7	c.4676G>C (p.Arg1559Thr) c.1717-20351G>C (n.1717-20351G>C) c.2663G>C (p.Arg888Thr) c.2213G>C (p.Arg738Thr) c.1421G>C (p.Arg474Thr)	dbSNP
8	g.60841878G=	CA1788122861	CHD7	c.4676G= (p.Arg1559=) c.1717-20351G= (n.1717-20351G=) c.2663G= (p.Arg888=) c.2213G= (p.Arg738=) c.1421G= (p.Arg474=)
8	g.60841878G>T	CA371318991	CHD7	c.4676G>T (p.Arg1559Ile) c.1717-20351G>T (n.1717-20351G>T) c.2663G>T (p.Arg888Ile) c.2213G>T (p.Arg738Ile) c.1421G>T (p.Arg474Ile)
8	g.60841879A>C	CA371318993	CHD7	c.4677A>C (p.Arg1559Ser) c.1717-20350A>C (n.1717-20350A>C) c.2664A>C (p.Arg888Ser) c.2214A>C (p.Arg738Ser) c.1422A>C (p.Arg474Ser)
8	g.60841879A>G	CA460848138	CHD7	c.4677A>G (p.Arg1559=) c.1717-20350A>G (n.1717-20350A>G) c.2664A>G (p.Arg888=) c.2214A>G (p.Arg738=) c.1422A>G (p.Arg474=)
8	g.60841879A>T	CA371318995	CHD7	c.4677A>T (p.Arg1559Ser) c.1717-20350A>T (n.1717-20350A>T) c.2664A>T (p.Arg888Ser) c.2214A>T (p.Arg738Ser) c.1422A>T (p.Arg474Ser)
8	g.60841880A>C	CA371318996	CHD7	c.4678A>C (p.Lys1560Gln) c.1717-20349A>C (n.1717-20349A>C) c.2665A>C (p.Lys889Gln) c.2215A>C (p.Lys739Gln) c.1423A>C (p.Lys475Gln)
8	g.60841880A>G	CA371318997	CHD7	c.4678A>G (p.Lys1560Glu) c.1717-20349A>G (n.1717-20349A>G) c.2665A>G (p.Lys889Glu) c.2215A>G (p.Lys739Glu) c.1423A>G (p.Lys475Glu)
8	g.60841880A>T	CA371318999	CHD7	c.4678A>T (p.Lys1560Ter) c.1717-20349A>T (n.1717-20349A>T) c.2665A>T (p.Lys889Ter) c.2215A>T (p.Lys739Ter) c.1423A>T (p.Lys475Ter)
8	g.60841881A>C	CA371319001	CHD7	c.4679A>C (p.Lys1560Thr) c.1717-20348A>C (n.1717-20348A>C) c.2666A>C (p.Lys889Thr) c.2216A>C (p.Lys739Thr) c.1424A>C (p.Lys475Thr)	gnomAD v4
8	g.60841881A>G	CA371319002	CHD7	c.4679A>G (p.Lys1560Arg) c.1717-20348A>G (n.1717-20348A>G) c.2666A>G (p.Lys889Arg) c.2216A>G (p.Lys739Arg) c.1424A>G (p.Lys475Arg)
8	g.60841881A>T	CA371319004	CHD7	c.4679A>T (p.Lys1560Met) c.1717-20348A>T (n.1717-20348A>T) c.2666A>T (p.Lys889Met) c.2216A>T (p.Lys739Met) c.1424A>T (p.Lys475Met)
8	g.60841882G>A	CA460848140	CHD7	c.4680G>A (p.Lys1560=) c.1717-20347G>A (n.1717-20347G>A) c.2667G>A (p.Lys889=) c.2217G>A (p.Lys739=) c.1425G>A (p.Lys475=)
8	g.60841882G>C	CA371319005	CHD7	c.4680G>C (p.Lys1560Asn) c.1717-20347G>C (n.1717-20347G>C) c.2667G>C (p.Lys889Asn) c.2217G>C (p.Lys739Asn) c.1425G>C (p.Lys475Asn)
8	g.60841882G>T	CA371319007	CHD7	c.4680G>T (p.Lys1560Asn) c.1717-20347G>T (n.1717-20347G>T) c.2667G>T (p.Lys889Asn) c.2217G>T (p.Lys739Asn) c.1425G>T (p.Lys475Asn)
8	g.60841883C>A	CA371319009	CHD7	c.4681C>A (p.Gln1561Lys) c.1717-20346C>A (n.1717-20346C>A) c.2668C>A (p.Gln890Lys) c.2218C>A (p.Gln740Lys) c.1426C>A (p.Gln476Lys)
8	g.60841883C>G	CA371319011	CHD7	c.4681C>G (p.Gln1561Glu) c.1717-20346C>G (n.1717-20346C>G) c.2668C>G (p.Gln890Glu) c.2218C>G (p.Gln740Glu) c.1426C>G (p.Gln476Glu)
8	g.60841883C>T	CA371319012	CHD7	c.4681C>T (p.Gln1561Ter) c.1717-20346C>T (n.1717-20346C>T) c.2668C>T (p.Gln890Ter) c.2218C>T (p.Gln740Ter) c.1426C>T (p.Gln476Ter)
8	g.60841884A>C	CA371319018	CHD7	c.4682A>C (p.Gln1561Pro) c.1717-20345A>C (n.1717-20345A>C) c.2669A>C (p.Gln890Pro) c.2219A>C (p.Gln740Pro) c.1427A>C (p.Gln476Pro)
8	g.60841884A>G	CA371319016	CHD7	c.4682A>G (p.Gln1561Arg) c.1717-20345A>G (n.1717-20345A>G) c.2669A>G (p.Gln890Arg) c.2219A>G (p.Gln740Arg) c.1427A>G (p.Gln476Arg)
8	g.60841884A>T	CA371319014	CHD7	c.4682A>T (p.Gln1561Leu) c.1717-20345A>T (n.1717-20345A>T) c.2669A>T (p.Gln890Leu) c.2219A>T (p.Gln740Leu) c.1427A>T (p.Gln476Leu)
8	g.60841885G>A	CA460848144	CHD7	c.4683G>A (p.Gln1561=) c.1717-20344G>A (n.1717-20344G>A) c.2670G>A (p.Gln890=) c.2220G>A (p.Gln740=) c.1428G>A (p.Gln476=)	ClinVar
8	g.60841885G>C	CA371319020	CHD7	c.4683G>C (p.Gln1561His) c.1717-20344G>C (n.1717-20344G>C) c.2670G>C (p.Gln890His) c.2220G>C (p.Gln740His) c.1428G>C (p.Gln476His)
8	g.60841885G>T	CA371319019	CHD7	c.4683G>T (p.Gln1561His) c.1717-20344G>T (n.1717-20344G>T) c.2670G>T (p.Gln890His) c.2220G>T (p.Gln740His) c.1428G>T (p.Gln476His)
8	g.60841886_60841891del	CA2515211869	CHD7	c.4684_4689del (p.Thr1562_Arg1563del) c.1717-20343_1717-20338del (n.1717-20343_1717-20338del) c.2671_2676del (p.Thr891_Arg892del) c.2221_2226del (p.Thr741_Arg742del) c.1429_1434del (p.Thr477_Arg478del)
8	g.60841886A>C	CA371319022	CHD7	c.4684A>C (p.Thr1562Pro) c.1717-20343A>C (n.1717-20343A>C) c.2671A>C (p.Thr891Pro) c.2221A>C (p.Thr741Pro) c.1429A>C (p.Thr477Pro)
8	g.60841886A>G	CA371319024	CHD7	c.4684A>G (p.Thr1562Ala) c.1717-20343A>G (n.1717-20343A>G) c.2671A>G (p.Thr891Ala) c.2221A>G (p.Thr741Ala) c.1429A>G (p.Thr477Ala)
8	g.60841886A>T	CA371319025	CHD7	c.4684A>T (p.Thr1562Ser) c.1717-20343A>T (n.1717-20343A>T) c.2671A>T (p.Thr891Ser) c.2221A>T (p.Thr741Ser) c.1429A>T (p.Thr477Ser)
8	g.60841887C>A	CA371319027	CHD7	c.4685C>A (p.Thr1562Asn) c.1717-20342C>A (n.1717-20342C>A) c.2672C>A (p.Thr891Asn) c.2222C>A (p.Thr741Asn) c.1430C>A (p.Thr477Asn)
8	g.60841887C>G	CA371319028	CHD7	c.4685C>G (p.Thr1562Ser) c.1717-20342C>G (n.1717-20342C>G) c.2672C>G (p.Thr891Ser) c.2222C>G (p.Thr741Ser) c.1430C>G (p.Thr477Ser)
8	g.60841887C>T	CA371319029	CHD7	c.4685C>T (p.Thr1562Ile) c.1717-20342C>T (n.1717-20342C>T) c.2672C>T (p.Thr891Ile) c.2222C>T (p.Thr741Ile) c.1430C>T (p.Thr477Ile)
8	g.60841888del	CA2695209735	CHD7	c.4686del (p.Arg1563GlyfsTer6) c.1717-20341del (n.1717-20341del) c.2673del (p.Arg892GlyfsTer6) c.2223del (p.Arg742GlyfsTer6) c.1431del (p.Arg478GlyfsTer6)
8	g.60841888C>A	CA460848147	CHD7	c.4686C>A (p.Thr1562=) c.1717-20341C>A (n.1717-20341C>A) c.2673C>A (p.Thr891=) c.2223C>A (p.Thr741=) c.1431C>A (p.Thr477=)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60841888C=	CA1788122871	CHD7	c.4686C= (p.Thr1562=) c.1717-20341C= (n.1717-20341C=) c.2673C= (p.Thr891=) c.2223C= (p.Thr741=) c.1431C= (p.Thr477=)
8	g.60841888C>G	CA460848148	CHD7	c.4686C>G (p.Thr1562=) c.1717-20341C>G (n.1717-20341C>G) c.2673C>G (p.Thr891=) c.2223C>G (p.Thr741=) c.1431C>G (p.Thr477=)
8	g.60841888C>T	CA460848145	CHD7	c.4686C>T (p.Thr1562=) c.1717-20341C>T (n.1717-20341C>T) c.2673C>T (p.Thr891=) c.2223C>T (p.Thr741=) c.1431C>T (p.Thr477=)	dbSNP gnomAD v2 gnomAD v4
8	g.60841889A>C	CA460848149	CHD7	c.4687A>C (p.Arg1563=) c.1717-20340A>C (n.1717-20340A>C) c.2674A>C (p.Arg892=) c.2224A>C (p.Arg742=) c.1432A>C (p.Arg478=)
8	g.60841889A>G	CA371319031	CHD7	c.4687A>G (p.Arg1563Gly) c.1717-20340A>G (n.1717-20340A>G) c.2674A>G (p.Arg892Gly) c.2224A>G (p.Arg742Gly) c.1432A>G (p.Arg478Gly)
8	g.60841889A>T	CA371319033	CHD7	c.4687A>T (p.Arg1563Trp) c.1717-20340A>T (n.1717-20340A>T) c.2674A>T (p.Arg892Trp) c.2224A>T (p.Arg742Trp) c.1432A>T (p.Arg478Trp)
8	g.60841890G>A	CA371319035	CHD7	c.4688G>A (p.Arg1563Lys) c.1717-20339G>A (n.1717-20339G>A) c.2675G>A (p.Arg892Lys) c.2225G>A (p.Arg742Lys) c.1433G>A (p.Arg478Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60841890G>C	CA371319036	CHD7	c.4688G>C (p.Arg1563Thr) c.1717-20339G>C (n.1717-20339G>C) c.2675G>C (p.Arg892Thr) c.2225G>C (p.Arg742Thr) c.1433G>C (p.Arg478Thr)
8	g.60841890G=	CA1788122879	CHD7	c.4688G= (p.Arg1563=) c.1717-20339G= (n.1717-20339G=) c.2675G= (p.Arg892=) c.2225G= (p.Arg742=) c.1433G= (p.Arg478=)
8	g.60841890G>T	CA371319037	CHD7	c.4688G>T (p.Arg1563Met) c.1717-20339G>T (n.1717-20339G>T) c.2675G>T (p.Arg892Met) c.2225G>T (p.Arg742Met) c.1433G>T (p.Arg478Met)
8	g.60841891G>A	CA460848152	CHD7	c.4689G>A (p.Arg1563=) c.1717-20338G>A (n.1717-20338G>A) c.2676G>A (p.Arg892=) c.2226G>A (p.Arg742=) c.1434G>A (p.Arg478=)
8	g.60841891G>C	CA371319039	CHD7	c.4689G>C (p.Arg1563Ser) c.1717-20338G>C (n.1717-20338G>C) c.2676G>C (p.Arg892Ser) c.2226G>C (p.Arg742Ser) c.1434G>C (p.Arg478Ser)
8	g.60841891G=	CA1788122884	CHD7	c.4689G= (p.Arg1563=) c.1717-20338G= (n.1717-20338G=) c.2676G= (p.Arg892=) c.2226G= (p.Arg742=) c.1434G= (p.Arg478=)
8	g.60841891G>T	CA371319041	CHD7	c.4689G>T (p.Arg1563Ser) c.1717-20338G>T (n.1717-20338G>T) c.2676G>T (p.Arg892Ser) c.2226G>T (p.Arg742Ser) c.1434G>T (p.Arg478Ser)
8	g.60841892C>A	CA371319042	CHD7	c.4690C>A (p.Leu1564Ile) c.1717-20337C>A (n.1717-20337C>A) c.2677C>A (p.Leu893Ile) c.2227C>A (p.Leu743Ile) c.1435C>A (p.Leu479Ile)
8	g.60841892C=	CA1788122891	CHD7	c.4690C= (p.Leu1564=) c.1717-20337C= (n.1717-20337C=) c.2677C= (p.Leu893=) c.2227C= (p.Leu743=) c.1435C= (p.Leu479=)
8	g.60841892C>G	CA371319045	CHD7	c.4690C>G (p.Leu1564Val) c.1717-20337C>G (n.1717-20337C>G) c.2677C>G (p.Leu893Val) c.2227C>G (p.Leu743Val) c.1435C>G (p.Leu479Val)
8	g.60841892C>T	CA371319044	CHD7	c.4690C>T (p.Leu1564Phe) c.1717-20337C>T (n.1717-20337C>T) c.2677C>T (p.Leu893Phe) c.2227C>T (p.Leu743Phe) c.1435C>T (p.Leu479Phe)	dbSNP gnomAD v2
8	g.60841892_60841894dup	CA1114429822	CHD7	c.4690_4692dup (p.Leu1564_Tyr1565insLeu) c.1717-20337_1717-20335dup (n.1717-20337_1717-20335dup) c.2677_2679dup (p.Leu893_Tyr894insLeu) c.2227_2229dup (p.Leu743_Tyr744insLeu) c.1435_1437dup (p.Leu479_Tyr480insLeu)	dbSNP gnomAD v3 gnomAD v4
8	g.60841893T>A	CA371319047	CHD7	c.4691T>A (p.Leu1564His) c.1717-20336T>A (n.1717-20336T>A) c.2678T>A (p.Leu893His) c.2228T>A (p.Leu743His) c.1436T>A (p.Leu479His)
8	g.60841893T>C	CA371319048	CHD7	c.4691T>C (p.Leu1564Pro) c.1717-20336T>C (n.1717-20336T>C) c.2678T>C (p.Leu893Pro) c.2228T>C (p.Leu743Pro) c.1436T>C (p.Leu479Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60841893T>G	CA371319050	CHD7	c.4691T>G (p.Leu1564Arg) c.1717-20336T>G (n.1717-20336T>G) c.2678T>G (p.Leu893Arg) c.2228T>G (p.Leu743Arg) c.1436T>G (p.Leu479Arg)
8	g.60841893T=	CA1788122899	CHD7	c.4691T= (p.Leu1564=) c.1717-20336T= (n.1717-20336T=) c.2678T= (p.Leu893=) c.2228T= (p.Leu743=) c.1436T= (p.Leu479=)
8	g.60841894C>A	CA460848156	CHD7	c.4692C>A (p.Leu1564=) c.1717-20335C>A (n.1717-20335C>A) c.2679C>A (p.Leu893=) c.2229C>A (p.Leu743=) c.1437C>A (p.Leu479=)
8	g.60841894C=	CA1788122903	CHD7	c.4692C= (p.Leu1564=) c.1717-20335C= (n.1717-20335C=) c.2679C= (p.Leu893=) c.2229C= (p.Leu743=) c.1437C= (p.Leu479=)
8	g.60841894C>G	CA4760180	CHD7	c.4692C>G (p.Leu1564=) c.1717-20335C>G (n.1717-20335C>G) c.2679C>G (p.Leu893=) c.2229C>G (p.Leu743=) c.1437C>G (p.Leu479=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841894C>T	CA460848154	CHD7	c.4692C>T (p.Leu1564=) c.1717-20335C>T (n.1717-20335C>T) c.2679C>T (p.Leu893=) c.2229C>T (p.Leu743=) c.1437C>T (p.Leu479=)	gnomAD v4
8	g.60841895T>A	CA371319051	CHD7	c.4693T>A (p.Tyr1565Asn) c.1717-20334T>A (n.1717-20334T>A) c.2680T>A (p.Tyr894Asn) c.2230T>A (p.Tyr744Asn) c.1438T>A (p.Tyr480Asn)
8	g.60841895T>C	CA371319052	CHD7	c.4693T>C (p.Tyr1565His) c.1717-20334T>C (n.1717-20334T>C) c.2680T>C (p.Tyr894His) c.2230T>C (p.Tyr744His) c.1438T>C (p.Tyr480His)	gnomAD v4
8	g.60841895T>G	CA371319054	CHD7	c.4693T>G (p.Tyr1565Asp) c.1717-20334T>G (n.1717-20334T>G) c.2680T>G (p.Tyr894Asp) c.2230T>G (p.Tyr744Asp) c.1438T>G (p.Tyr480Asp)
8	g.60841896A>C	CA371319056	CHD7	c.4694A>C (p.Tyr1565Ser) c.1717-20333A>C (n.1717-20333A>C) c.2681A>C (p.Tyr894Ser) c.2231A>C (p.Tyr744Ser) c.1439A>C (p.Tyr480Ser)
8	g.60841896A>G	CA371319057	CHD7	c.4694A>G (p.Tyr1565Cys) c.1717-20333A>G (n.1717-20333A>G) c.2681A>G (p.Tyr894Cys) c.2231A>G (p.Tyr744Cys) c.1439A>G (p.Tyr480Cys)
8	g.60841896A>T	CA371319059	CHD7	c.4694A>T (p.Tyr1565Phe) c.1717-20333A>T (n.1717-20333A>T) c.2681A>T (p.Tyr894Phe) c.2231A>T (p.Tyr744Phe) c.1439A>T (p.Tyr480Phe)
8	g.60841897C>A	CA371319060	CHD7	c.4695C>A (p.Tyr1565Ter) c.1717-20332C>A (n.1717-20332C>A) c.2682C>A (p.Tyr894Ter) c.2232C>A (p.Tyr744Ter) c.1440C>A (p.Tyr480Ter)
8	g.60841897C>G	CA371319062	CHD7	c.4695C>G (p.Tyr1565Ter) c.1717-20332C>G (n.1717-20332C>G) c.2682C>G (p.Tyr894Ter) c.2232C>G (p.Tyr744Ter) c.1440C>G (p.Tyr480Ter)
8	g.60841897C>T	CA460848157	CHD7	c.4695C>T (p.Tyr1565=) c.1717-20332C>T (n.1717-20332C>T) c.2682C>T (p.Tyr894=) c.2232C>T (p.Tyr744=) c.1440C>T (p.Tyr480=)
8	g.60841898A>C	CA371319065	CHD7	c.4696A>C (p.Ser1566Arg) c.1717-20331A>C (n.1717-20331A>C) c.2683A>C (p.Ser895Arg) c.2233A>C (p.Ser745Arg) c.1441A>C (p.Ser481Arg)
8	g.60841898A>G	CA371319066	CHD7	c.4696A>G (p.Ser1566Gly) c.1717-20331A>G (n.1717-20331A>G) c.2683A>G (p.Ser895Gly) c.2233A>G (p.Ser745Gly) c.1441A>G (p.Ser481Gly)
8	g.60841898A>T	CA371319064	CHD7	c.4696A>T (p.Ser1566Cys) c.1717-20331A>T (n.1717-20331A>T) c.2683A>T (p.Ser895Cys) c.2233A>T (p.Ser745Cys) c.1441A>T (p.Ser481Cys)
8	g.60841899G>A	CA371319068	CHD7	c.4697G>A (p.Ser1566Asn) c.1717-20330G>A (n.1717-20330G>A) c.2684G>A (p.Ser895Asn) c.2234G>A (p.Ser745Asn) c.1442G>A (p.Ser481Asn)	dbSNP gnomAD v2
8	g.60841899G>C	CA371319071	CHD7	c.4697G>C (p.Ser1566Thr) c.1717-20330G>C (n.1717-20330G>C) c.2684G>C (p.Ser895Thr) c.2234G>C (p.Ser745Thr) c.1442G>C (p.Ser481Thr)
8	g.60841899G=	CA1788122910	CHD7	c.4697G= (p.Ser1566=) c.1717-20330G= (n.1717-20330G=) c.2684G= (p.Ser895=) c.2234G= (p.Ser745=) c.1442G= (p.Ser481=)
8	g.60841899G>T	CA371319070	CHD7	c.4697G>T (p.Ser1566Ile) c.1717-20330G>T (n.1717-20330G>T) c.2684G>T (p.Ser895Ile) c.2234G>T (p.Ser745Ile) c.1442G>T (p.Ser481Ile)
8	g.60841900T>A	CA371319073	CHD7	c.4698T>A (p.Ser1566Arg) c.1717-20329T>A (n.1717-20329T>A) c.2685T>A (p.Ser895Arg) c.2235T>A (p.Ser745Arg) c.1443T>A (p.Ser481Arg)
8	g.60841900T>C	CA177349986	CHD7	c.4698T>C (p.Ser1566=) c.1717-20329T>C (n.1717-20329T>C) c.2685T>C (p.Ser895=) c.2235T>C (p.Ser745=) c.1443T>C (p.Ser481=)	dbSNP gnomAD v4
8	g.60841900T>G	CA4760181	CHD7	c.4698T>G (p.Ser1566Arg) c.1717-20329T>G (n.1717-20329T>G) c.2685T>G (p.Ser895Arg) c.2235T>G (p.Ser745Arg) c.1443T>G (p.Ser481Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841900T=	CA1788122913	CHD7	c.4698T= (p.Ser1566=) c.1717-20329T= (n.1717-20329T=) c.2685T= (p.Ser895=) c.2235T= (p.Ser745=) c.1443T= (p.Ser481=)
8	g.60841901G>A	CA371319074	CHD7	c.4699G>A (p.Ala1567Thr) c.1717-20328G>A (n.1717-20328G>A) c.2686G>A (p.Ala896Thr) c.2236G>A (p.Ala746Thr) c.1444G>A (p.Ala482Thr)
8	g.60841901G>C	CA371319076	CHD7	c.4699G>C (p.Ala1567Pro) c.1717-20328G>C (n.1717-20328G>C) c.2686G>C (p.Ala896Pro) c.2236G>C (p.Ala746Pro) c.1444G>C (p.Ala482Pro)
8	g.60841901G>T	CA371319078	CHD7	c.4699G>T (p.Ala1567Ser) c.1717-20328G>T (n.1717-20328G>T) c.2686G>T (p.Ala896Ser) c.2236G>T (p.Ala746Ser) c.1444G>T (p.Ala482Ser)
8	g.60841902C>A	CA371319079	CHD7	c.4700C>A (p.Ala1567Glu) c.1717-20327C>A (n.1717-20327C>A) c.2687C>A (p.Ala896Glu) c.2237C>A (p.Ala746Glu) c.1445C>A (p.Ala482Glu)	dbSNP gnomAD v2
8	g.60841902C=	CA1788122921	CHD7	c.4700C= (p.Ala1567=) c.1717-20327C= (n.1717-20327C=) c.2687C= (p.Ala896=) c.2237C= (p.Ala746=) c.1445C= (p.Ala482=)
8	g.60841902C>G	CA371319080	CHD7	c.4700C>G (p.Ala1567Gly) c.1717-20327C>G (n.1717-20327C>G) c.2687C>G (p.Ala896Gly) c.2237C>G (p.Ala746Gly) c.1445C>G (p.Ala482Gly)
8	g.60841902C>T	CA371319081	CHD7	c.4700C>T (p.Ala1567Val) c.1717-20327C>T (n.1717-20327C>T) c.2687C>T (p.Ala896Val) c.2237C>T (p.Ala746Val) c.1445C>T (p.Ala482Val)
8	g.60841903A=	CA1788122939	CHD7	c.4701A= (p.Ala1567=) c.1717-20326A= (n.1717-20326A=) c.2688A= (p.Ala896=) c.2238A= (p.Ala746=) c.1446A= (p.Ala482=)
8	g.60841903A>C	CA460848161	CHD7	c.4701A>C (p.Ala1567=) c.1717-20326A>C (n.1717-20326A>C) c.2688A>C (p.Ala896=) c.2238A>C (p.Ala746=) c.1446A>C (p.Ala482=)
8	g.60841903A>G	CA460848162	CHD7	c.4701A>G (p.Ala1567=) c.1717-20326A>G (n.1717-20326A>G) c.2688A>G (p.Ala896=) c.2238A>G (p.Ala746=) c.1446A>G (p.Ala482=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841903A>T	CA460848163	CHD7	c.4701A>T (p.Ala1567=) c.1717-20326A>T (n.1717-20326A>T) c.2688A>T (p.Ala896=) c.2238A>T (p.Ala746=) c.1446A>T (p.Ala482=)
8	g.60841904del	CA2825001591	CHD7	c.4702del (p.Val1568Ter) c.1717-20325del (n.1717-20325del) c.2689del (p.Val897Ter) c.2239del (p.Val747Ter) c.1447del (p.Val483Ter)	ClinVar
8	g.60841904G>A	CA371319083	CHD7	c.4702G>A (p.Val1568Met) c.1717-20325G>A (n.1717-20325G>A) c.2689G>A (p.Val897Met) c.2239G>A (p.Val747Met) c.1447G>A (p.Val483Met)
8	g.60841904G>C	CA371319084	CHD7	c.4702G>C (p.Val1568Leu) c.1717-20325G>C (n.1717-20325G>C) c.2689G>C (p.Val897Leu) c.2239G>C (p.Val747Leu) c.1447G>C (p.Val483Leu)
8	g.60841904G>T	CA371319085	CHD7	c.4702G>T (p.Val1568Leu) c.1717-20325G>T (n.1717-20325G>T) c.2689G>T (p.Val897Leu) c.2239G>T (p.Val747Leu) c.1447G>T (p.Val483Leu)	gnomAD v4
8	g.60841905T>A	CA371319089	CHD7	c.4703T>A (p.Val1568Glu) c.1717-20324T>A (n.1717-20324T>A) c.2690T>A (p.Val897Glu) c.2240T>A (p.Val747Glu) c.1448T>A (p.Val483Glu)
8	g.60841905T>C	CA371319087	CHD7	c.4703T>C (p.Val1568Ala) c.1717-20324T>C (n.1717-20324T>C) c.2690T>C (p.Val897Ala) c.2240T>C (p.Val747Ala) c.1448T>C (p.Val483Ala)
8	g.60841905T>G	CA371319088	CHD7	c.4703T>G (p.Val1568Gly) c.1717-20324T>G (n.1717-20324T>G) c.2690T>G (p.Val897Gly) c.2240T>G (p.Val747Gly) c.1448T>G (p.Val483Gly)
8	g.60841906G>A	CA460848165	CHD7	c.4704G>A (p.Val1568=) c.1717-20323G>A (n.1717-20323G>A) c.2691G>A (p.Val897=) c.2241G>A (p.Val747=) c.1449G>A (p.Val483=)	gnomAD v4
8	g.60841906G>C	CA460848166	CHD7	c.4704G>C (p.Val1568=) c.1717-20323G>C (n.1717-20323G>C) c.2691G>C (p.Val897=) c.2241G>C (p.Val747=) c.1449G>C (p.Val483=)
8	g.60841906G>T	CA460848167	CHD7	c.4704G>T (p.Val1568=) c.1717-20323G>T (n.1717-20323G>T) c.2691G>T (p.Val897=) c.2241G>T (p.Val747=) c.1449G>T (p.Val483=)
8	g.60841907A=	CA1788122942	CHD7	c.4705A= (p.Lys1569=) c.1717-20322A= (n.1717-20322A=) c.2692A= (p.Lys898=) c.2242A= (p.Lys748=) c.1450A= (p.Lys484=)
8	g.60841907A>C	CA371319091	CHD7	c.4705A>C (p.Lys1569Gln) c.1717-20322A>C (n.1717-20322A>C) c.2692A>C (p.Lys898Gln) c.2242A>C (p.Lys748Gln) c.1450A>C (p.Lys484Gln)
8	g.60841907A>G	CA371319093	CHD7	c.4705A>G (p.Lys1569Glu) c.1717-20322A>G (n.1717-20322A>G) c.2692A>G (p.Lys898Glu) c.2242A>G (p.Lys748Glu) c.1450A>G (p.Lys484Glu)	dbSNP gnomAD v2 gnomAD v4
8	g.60841907A>T	CA371319094	CHD7	c.4705A>T (p.Lys1569Ter) c.1717-20322A>T (n.1717-20322A>T) c.2692A>T (p.Lys898Ter) c.2242A>T (p.Lys748Ter) c.1450A>T (p.Lys484Ter)
8	g.60841908A>C	CA371319095	CHD7	c.4706A>C (p.Lys1569Thr) c.1717-20321A>C (n.1717-20321A>C) c.2693A>C (p.Lys898Thr) c.2243A>C (p.Lys748Thr) c.1451A>C (p.Lys484Thr)
8	g.60841908A>G	CA371319096	CHD7	c.4706A>G (p.Lys1569Arg) c.1717-20321A>G (n.1717-20321A>G) c.2693A>G (p.Lys898Arg) c.2243A>G (p.Lys748Arg) c.1451A>G (p.Lys484Arg)
8	g.60841908A>T	CA371319098	CHD7	c.4706A>T (p.Lys1569Met) c.1717-20321A>T (n.1717-20321A>T) c.2693A>T (p.Lys898Met) c.2243A>T (p.Lys748Met) c.1451A>T (p.Lys484Met)
8	g.60841909G>A	CA460848171	CHD7	c.4707G>A (p.Lys1569=) c.1717-20320G>A (n.1717-20320G>A) c.2694G>A (p.Lys898=) c.2244G>A (p.Lys748=) c.1452G>A (p.Lys484=)	ClinVar
8	g.60841909G>C	CA371319102	CHD7	c.4707G>C (p.Lys1569Asn) c.1717-20320G>C (n.1717-20320G>C) c.2694G>C (p.Lys898Asn) c.2244G>C (p.Lys748Asn) c.1452G>C (p.Lys484Asn)	gnomAD v4
8	g.60841909G>T	CA371319105	CHD7	c.4707G>T (p.Lys1569Asn) c.1717-20320G>T (n.1717-20320G>T) c.2694G>T (p.Lys898Asn) c.2244G>T (p.Lys748Asn) c.1452G>T (p.Lys484Asn)
8	g.60841910G>A	CA4760182	CHD7	c.4708G>A (p.Glu1570Lys) c.1717-20319G>A (n.1717-20319G>A) c.2695G>A (p.Glu899Lys) c.2245G>A (p.Glu749Lys) c.1453G>A (p.Glu485Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841910G>C	CA371319109	CHD7	c.4708G>C (p.Glu1570Gln) c.1717-20319G>C (n.1717-20319G>C) c.2695G>C (p.Glu899Gln) c.2245G>C (p.Glu749Gln) c.1453G>C (p.Glu485Gln)
8	g.60841910G=	CA1788122946	CHD7	c.4708G= (p.Glu1570=) c.1717-20319G= (n.1717-20319G=) c.2695G= (p.Glu899=) c.2245G= (p.Glu749=) c.1453G= (p.Glu485=)
8	g.60841910G>T	CA371319110	CHD7	c.4708G>T (p.Glu1570Ter) c.1717-20319G>T (n.1717-20319G>T) c.2695G>T (p.Glu899Ter) c.2245G>T (p.Glu749Ter) c.1453G>T (p.Glu485Ter)
8	g.60841911A>C	CA371319114	CHD7	c.4709A>C (p.Glu1570Ala) c.1717-20318A>C (n.1717-20318A>C) c.2696A>C (p.Glu899Ala) c.2246A>C (p.Glu749Ala) c.1454A>C (p.Glu485Ala)
8	g.60841911A>G	CA371319115	CHD7	c.4709A>G (p.Glu1570Gly) c.1717-20318A>G (n.1717-20318A>G) c.2696A>G (p.Glu899Gly) c.2246A>G (p.Glu749Gly) c.1454A>G (p.Glu485Gly)
8	g.60841911A>T	CA371319113	CHD7	c.4709A>T (p.Glu1570Val) c.1717-20318A>T (n.1717-20318A>T) c.2696A>T (p.Glu899Val) c.2246A>T (p.Glu749Val) c.1454A>T (p.Glu485Val)
8	g.60841912A=	CA1788122948	CHD7	c.4710A= (p.Glu1570=) c.1717-20317A= (n.1717-20317A=) c.2697A= (p.Glu899=) c.2247A= (p.Glu749=) c.1455A= (p.Glu485=)
8	g.60841912A>C	CA371319118	CHD7	c.4710A>C (p.Glu1570Asp) c.1717-20317A>C (n.1717-20317A>C) c.2697A>C (p.Glu899Asp) c.2247A>C (p.Glu749Asp) c.1455A>C (p.Glu485Asp)
8	g.60841912A>G	CA460848173	CHD7	c.4710A>G (p.Glu1570=) c.1717-20317A>G (n.1717-20317A>G) c.2697A>G (p.Glu899=) c.2247A>G (p.Glu749=) c.1455A>G (p.Glu485=)	dbSNP
8	g.60841912A>T	CA371319120	CHD7	c.4710A>T (p.Glu1570Asp) c.1717-20317A>T (n.1717-20317A>T) c.2697A>T (p.Glu899Asp) c.2247A>T (p.Glu749Asp) c.1455A>T (p.Glu485Asp)
8	g.60841913G>A	CA371319123	CHD7	c.4711G>A (p.Asp1571Asn) c.1717-20316G>A (n.1717-20316G>A) c.2698G>A (p.Asp900Asn) c.2248G>A (p.Asp750Asn) c.1456G>A (p.Asp486Asn)	gnomAD v4
8	g.60841913G>C	CA371319124	CHD7	c.4711G>C (p.Asp1571His) c.1717-20316G>C (n.1717-20316G>C) c.2698G>C (p.Asp900His) c.2248G>C (p.Asp750His) c.1456G>C (p.Asp486His)
8	g.60841913G>T	CA371319125	CHD7	c.4711G>T (p.Asp1571Tyr) c.1717-20316G>T (n.1717-20316G>T) c.2698G>T (p.Asp900Tyr) c.2248G>T (p.Asp750Tyr) c.1456G>T (p.Asp486Tyr)
8	g.60841914A>C	CA371319127	CHD7	c.4712A>C (p.Asp1571Ala) c.1717-20315A>C (n.1717-20315A>C) c.2699A>C (p.Asp900Ala) c.2249A>C (p.Asp750Ala) c.1457A>C (p.Asp486Ala)
8	g.60841914A>G	CA371319129	CHD7	c.4712A>G (p.Asp1571Gly) c.1717-20315A>G (n.1717-20315A>G) c.2699A>G (p.Asp900Gly) c.2249A>G (p.Asp750Gly) c.1457A>G (p.Asp486Gly)
8	g.60841914A>T	CA371319132	CHD7	c.4712A>T (p.Asp1571Val) c.1717-20315A>T (n.1717-20315A>T) c.2699A>T (p.Asp900Val) c.2249A>T (p.Asp750Val) c.1457A>T (p.Asp486Val)
8	g.60841915T>A	CA371319134	CHD7	c.4713T>A (p.Asp1571Glu) c.1717-20314T>A (n.1717-20314T>A) c.2700T>A (p.Asp900Glu) c.2250T>A (p.Asp750Glu) c.1458T>A (p.Asp486Glu)
8	g.60841915T>C	CA460848174	CHD7	c.4713T>C (p.Asp1571=) c.1717-20314T>C (n.1717-20314T>C) c.2700T>C (p.Asp900=) c.2250T>C (p.Asp750=) c.1458T>C (p.Asp486=)	gnomAD v4
8	g.60841915T>G	CA371319135	CHD7	c.4713T>G (p.Asp1571Glu) c.1717-20314T>G (n.1717-20314T>G) c.2700T>G (p.Asp900Glu) c.2250T>G (p.Asp750Glu) c.1458T>G (p.Asp486Glu)
8	g.60841916G>A	CA371319138	CHD7	c.4714G>A (p.Glu1572Lys) c.1717-20313G>A (n.1717-20313G>A) c.2701G>A (p.Glu901Lys) c.2251G>A (p.Glu751Lys) c.1459G>A (p.Glu487Lys)	dbSNP gnomAD v2
8	g.60841916G>C	CA371319140	CHD7	c.4714G>C (p.Glu1572Gln) c.1717-20313G>C (n.1717-20313G>C) c.2701G>C (p.Glu901Gln) c.2251G>C (p.Glu751Gln) c.1459G>C (p.Glu487Gln)
8	g.60841916G=	CA1788122954	CHD7	c.4714G= (p.Glu1572=) c.1717-20313G= (n.1717-20313G=) c.2701G= (p.Glu901=) c.2251G= (p.Glu751=) c.1459G= (p.Glu487=)
8	g.60841916G>T	CA371319142	CHD7	c.4714G>T (p.Glu1572Ter) c.1717-20313G>T (n.1717-20313G>T) c.2701G>T (p.Glu901Ter) c.2251G>T (p.Glu751Ter) c.1459G>T (p.Glu487Ter)	gnomAD v4
8	g.60841917A>C	CA371319147	CHD7	c.4715A>C (p.Glu1572Ala) c.1717-20312A>C (n.1717-20312A>C) c.2702A>C (p.Glu901Ala) c.2252A>C (p.Glu751Ala) c.1460A>C (p.Glu487Ala)
8	g.60841917A>G	CA371319145	CHD7	c.4715A>G (p.Glu1572Gly) c.1717-20312A>G (n.1717-20312A>G) c.2702A>G (p.Glu901Gly) c.2252A>G (p.Glu751Gly) c.1460A>G (p.Glu487Gly)
8	g.60841917A>T	CA371319143	CHD7	c.4715A>T (p.Glu1572Val) c.1717-20312A>T (n.1717-20312A>T) c.2702A>T (p.Glu901Val) c.2252A>T (p.Glu751Val) c.1460A>T (p.Glu487Val)
8	g.60841918G>A	CA460848183	CHD7	c.4716G>A (p.Glu1572=) c.1717-20311G>A (n.1717-20311G>A) c.2703G>A (p.Glu901=) c.2253G>A (p.Glu751=) c.1461G>A (p.Glu487=)
8	g.60841918G>C	CA371319149	CHD7	c.4716G>C (p.Glu1572Asp) c.1717-20311G>C (n.1717-20311G>C) c.2703G>C (p.Glu901Asp) c.2253G>C (p.Glu751Asp) c.1461G>C (p.Glu487Asp)
8	g.60841918G>T	CA371319151	CHD7	c.4716G>T (p.Glu1572Asp) c.1717-20311G>T (n.1717-20311G>T) c.2703G>T (p.Glu901Asp) c.2253G>T (p.Glu751Asp) c.1461G>T (p.Glu487Asp)
8	g.60841919C>A	CA371319153	CHD7	c.4717C>A (p.Leu1573Met) c.1717-20310C>A (n.1717-20310C>A) c.2704C>A (p.Leu902Met) c.2254C>A (p.Leu752Met) c.1462C>A (p.Leu488Met)
8	g.60841919C=	CA1788122965	CHD7	c.4717C= (p.Leu1573=) c.1717-20310C= (n.1717-20310C=) c.2704C= (p.Leu902=) c.2254C= (p.Leu752=) c.1462C= (p.Leu488=)
8	g.60841919C>G	CA4760183	CHD7	c.4717C>G (p.Leu1573Val) c.1717-20310C>G (n.1717-20310C>G) c.2704C>G (p.Leu902Val) c.2254C>G (p.Leu752Val) c.1462C>G (p.Leu488Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841919C>T	CA460848184	CHD7	c.4717C>T (p.Leu1573=) c.1717-20310C>T (n.1717-20310C>T) c.2704C>T (p.Leu902=) c.2254C>T (p.Leu752=) c.1462C>T (p.Leu488=)	gnomAD v4
8	g.60841920T>A	CA371319156	CHD7	c.4718T>A (p.Leu1573Gln) c.1717-20309T>A (n.1717-20309T>A) c.2705T>A (p.Leu902Gln) c.2255T>A (p.Leu752Gln) c.1463T>A (p.Leu488Gln)
8	g.60841920T>C	CA371319157	CHD7	c.4718T>C (p.Leu1573Pro) c.1717-20309T>C (n.1717-20309T>C) c.2705T>C (p.Leu902Pro) c.2255T>C (p.Leu752Pro) c.1463T>C (p.Leu488Pro)
8	g.60841920T>G	CA371319160	CHD7	c.4718T>G (p.Leu1573Arg) c.1717-20309T>G (n.1717-20309T>G) c.2705T>G (p.Leu902Arg) c.2255T>G (p.Leu752Arg) c.1463T>G (p.Leu488Arg)
8	g.60841921G>A	CA460848185	CHD7	c.4719G>A (p.Leu1573=) c.1717-20308G>A (n.1717-20308G>A) c.2706G>A (p.Leu902=) c.2256G>A (p.Leu752=) c.1464G>A (p.Leu488=)
8	g.60841921G>C	CA460848186	CHD7	c.4719G>C (p.Leu1573=) c.1717-20308G>C (n.1717-20308G>C) c.2706G>C (p.Leu902=) c.2256G>C (p.Leu752=) c.1464G>C (p.Leu488=)
8	g.60841921G>T	CA460848187	CHD7	c.4719G>T (p.Leu1573=) c.1717-20308G>T (n.1717-20308G>T) c.2706G>T (p.Leu902=) c.2256G>T (p.Leu752=) c.1464G>T (p.Leu488=)
8	g.60841922A=	CA1788122976	CHD7	c.4720A= (p.Met1574=) c.1717-20307A= (n.1717-20307A=) c.2707A= (p.Met903=) c.2257A= (p.Met753=) c.1465A= (p.Met489=)
8	g.60841922A>C	CA371319162	CHD7	c.4720A>C (p.Met1574Leu) c.1717-20307A>C (n.1717-20307A>C) c.2707A>C (p.Met903Leu) c.2257A>C (p.Met753Leu) c.1465A>C (p.Met489Leu)
8	g.60841922A>G	CA371319164	CHD7	c.4720A>G (p.Met1574Val) c.1717-20307A>G (n.1717-20307A>G) c.2707A>G (p.Met903Val) c.2257A>G (p.Met753Val) c.1465A>G (p.Met489Val)
8	g.60841922A>T	CA177349994	CHD7	c.4720A>T (p.Met1574Leu) c.1717-20307A>T (n.1717-20307A>T) c.2707A>T (p.Met903Leu) c.2257A>T (p.Met753Leu) c.1465A>T (p.Met489Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841923T>A	CA371319166	CHD7	c.4721T>A (p.Met1574Lys) c.1717-20306T>A (n.1717-20306T>A) c.2708T>A (p.Met903Lys) c.2258T>A (p.Met753Lys) c.1466T>A (p.Met489Lys)
8	g.60841923T>C	CA371319167	CHD7	c.4721T>C (p.Met1574Thr) c.1717-20306T>C (n.1717-20306T>C) c.2708T>C (p.Met903Thr) c.2258T>C (p.Met753Thr) c.1466T>C (p.Met489Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841923T>G	CA371319170	CHD7	c.4721T>G (p.Met1574Arg) c.1717-20306T>G (n.1717-20306T>G) c.2708T>G (p.Met903Arg) c.2258T>G (p.Met753Arg) c.1466T>G (p.Met489Arg)
8	g.60841923T=	CA1788122983	CHD7	c.4721T= (p.Met1574=) c.1717-20306T= (n.1717-20306T=) c.2708T= (p.Met903=) c.2258T= (p.Met753=) c.1466T= (p.Met489=)
8	g.60841924G>A	CA371319176	CHD7	c.4722G>A (p.Met1574Ile) c.1717-20305G>A (n.1717-20305G>A) c.2709G>A (p.Met903Ile) c.2259G>A (p.Met753Ile) c.1467G>A (p.Met489Ile)
8	g.60841924G>C	CA371319173	CHD7	c.4722G>C (p.Met1574Ile) c.1717-20305G>C (n.1717-20305G>C) c.2709G>C (p.Met903Ile) c.2259G>C (p.Met753Ile) c.1467G>C (p.Met489Ile)
8	g.60841924G>T	CA371319172	CHD7	c.4722G>T (p.Met1574Ile) c.1717-20305G>T (n.1717-20305G>T) c.2709G>T (p.Met903Ile) c.2259G>T (p.Met753Ile) c.1467G>T (p.Met489Ile)
8	g.60841925dup	CA2695209736	CHD7	c.4723dup (p.Glu1575GlyfsTer8) c.1717-20304dup (n.1717-20304dup) c.2710dup (p.Glu904GlyfsTer8) c.2260dup (p.Glu754GlyfsTer8) c.1468dup (p.Glu490GlyfsTer8)
8	g.60841925G>A	CA371319179	CHD7	c.4723G>A (p.Glu1575Lys) c.1717-20304G>A (n.1717-20304G>A) c.2710G>A (p.Glu904Lys) c.2260G>A (p.Glu754Lys) c.1468G>A (p.Glu490Lys)
8	g.60841925G>C	CA371319178	CHD7	c.4723G>C (p.Glu1575Gln) c.1717-20304G>C (n.1717-20304G>C) c.2710G>C (p.Glu904Gln) c.2260G>C (p.Glu754Gln) c.1468G>C (p.Glu490Gln)
8	g.60841925G>T	CA371319181	CHD7	c.4723G>T (p.Glu1575Ter) c.1717-20304G>T (n.1717-20304G>T) c.2710G>T (p.Glu904Ter) c.2260G>T (p.Glu754Ter) c.1468G>T (p.Glu490Ter)
8	g.60841926A=	CA1788122990	CHD7	c.4724A= (p.Glu1575=) c.1717-20303A= (n.1717-20303A=) c.2711A= (p.Glu904=) c.2261A= (p.Glu754=) c.1469A= (p.Glu490=)
8	g.60841926A>C	CA371319183	CHD7	c.4724A>C (p.Glu1575Ala) c.1717-20303A>C (n.1717-20303A>C) c.2711A>C (p.Glu904Ala) c.2261A>C (p.Glu754Ala) c.1469A>C (p.Glu490Ala)
8	g.60841926A>G	CA371319187	CHD7	c.4724A>G (p.Glu1575Gly) c.1717-20303A>G (n.1717-20303A>G) c.2711A>G (p.Glu904Gly) c.2261A>G (p.Glu754Gly) c.1469A>G (p.Glu490Gly)	dbSNP gnomAD v4
8	g.60841926A>T	CA371319185	CHD7	c.4724A>T (p.Glu1575Val) c.1717-20303A>T (n.1717-20303A>T) c.2711A>T (p.Glu904Val) c.2261A>T (p.Glu754Val) c.1469A>T (p.Glu490Val)
8	g.60841927G>A	CA460848188	CHD7	c.4725G>A (p.Glu1575=) c.1717-20302G>A (n.1717-20302G>A) c.2712G>A (p.Glu904=) c.2262G>A (p.Glu754=) c.1470G>A (p.Glu490=)
8	g.60841927G>C	CA371319189	CHD7	c.4725G>C (p.Glu1575Asp) c.1717-20302G>C (n.1717-20302G>C) c.2712G>C (p.Glu904Asp) c.2262G>C (p.Glu754Asp) c.1470G>C (p.Glu490Asp)
8	g.60841927G>T	CA371319191	CHD7	c.4725G>T (p.Glu1575Asp) c.1717-20302G>T (n.1717-20302G>T) c.2712G>T (p.Glu904Asp) c.2262G>T (p.Glu754Asp) c.1470G>T (p.Glu490Asp)
8	g.60841928T>A	CA371319192	CHD7	c.4726T>A (p.Phe1576Ile) c.1717-20301T>A (n.1717-20301T>A) c.2713T>A (p.Phe905Ile) c.2263T>A (p.Phe755Ile) c.1471T>A (p.Phe491Ile)
8	g.60841928T>C	CA371319194	CHD7	c.4726T>C (p.Phe1576Leu) c.1717-20301T>C (n.1717-20301T>C) c.2713T>C (p.Phe905Leu) c.2263T>C (p.Phe755Leu) c.1471T>C (p.Phe491Leu)
8	g.60841928T>G	CA371319196	CHD7	c.4726T>G (p.Phe1576Val) c.1717-20301T>G (n.1717-20301T>G) c.2713T>G (p.Phe905Val) c.2263T>G (p.Phe755Val) c.1471T>G (p.Phe491Val)
8	g.60841929T>A	CA371319198	CHD7	c.4727T>A (p.Phe1576Tyr) c.1717-20300T>A (n.1717-20300T>A) c.2714T>A (p.Phe905Tyr) c.2264T>A (p.Phe755Tyr) c.1472T>A (p.Phe491Tyr)
8	g.60841929T>C	CA371319199	CHD7	c.4727T>C (p.Phe1576Ser) c.1717-20300T>C (n.1717-20300T>C) c.2714T>C (p.Phe905Ser) c.2264T>C (p.Phe755Ser) c.1472T>C (p.Phe491Ser)
8	g.60841929T>G	CA371319201	CHD7	c.4727T>G (p.Phe1576Cys) c.1717-20300T>G (n.1717-20300T>G) c.2714T>G (p.Phe905Cys) c.2264T>G (p.Phe755Cys) c.1472T>G (p.Phe491Cys)	dbSNP gnomAD v3 gnomAD v4
8	g.60841929T=	CA1788122997	CHD7	c.4727T= (p.Phe1576=) c.1717-20300T= (n.1717-20300T=) c.2714T= (p.Phe905=) c.2264T= (p.Phe755=) c.1472T= (p.Phe491=)
8	g.60841930C>A	CA371319202	CHD7	c.4728C>A (p.Phe1576Leu) c.1717-20299C>A (n.1717-20299C>A) c.2715C>A (p.Phe905Leu) c.2265C>A (p.Phe755Leu) c.1473C>A (p.Phe491Leu)
8	g.60841930C>G	CA371319205	CHD7	c.4728C>G (p.Phe1576Leu) c.1717-20299C>G (n.1717-20299C>G) c.2715C>G (p.Phe905Leu) c.2265C>G (p.Phe755Leu) c.1473C>G (p.Phe491Leu)
8	g.60841930C>T	CA460848189	CHD7	c.4728C>T (p.Phe1576=) c.1717-20299C>T (n.1717-20299C>T) c.2715C>T (p.Phe905=) c.2265C>T (p.Phe755=) c.1473C>T (p.Phe491=)
8	g.60841931T>A	CA371319207	CHD7	c.4729T>A (p.Ser1577Thr) c.1717-20298T>A (n.1717-20298T>A) c.2716T>A (p.Ser906Thr) c.2266T>A (p.Ser756Thr) c.1474T>A (p.Ser492Thr)
8	g.60841931T>C	CA371319209	CHD7	c.4729T>C (p.Ser1577Pro) c.1717-20298T>C (n.1717-20298T>C) c.2716T>C (p.Ser906Pro) c.2266T>C (p.Ser756Pro) c.1474T>C (p.Ser492Pro)
8	g.60841931T>G	CA371319211	CHD7	c.4729T>G (p.Ser1577Ala) c.1717-20298T>G (n.1717-20298T>G) c.2716T>G (p.Ser906Ala) c.2266T>G (p.Ser756Ala) c.1474T>G (p.Ser492Ala)	gnomAD v4
8	g.60841931_60841932insTACTCACCCTC	CA2531895190	CHD7	c.4729_4730insTACTCACCCTC (p.Ser1577LeufsTer?) c.1717-20298_1717-20297insTACTCACCCTC (n.1717-20298_1717-20297insTACTCACCCTC) c.2716_2717insTACTCACCCTC (p.Ser906LeufsTer?) c.2266_2267insTACTCACCCTC (p.Ser756LeufsTer?) c.1474_1475insTACTCACCCTC (p.Ser492LeufsTer?)
8	g.60841932C>A	CA371319213	CHD7	c.4730C>A (p.Ser1577Ter) c.1717-20297C>A (n.1717-20297C>A) c.2717C>A (p.Ser906Ter) c.2267C>A (p.Ser756Ter) c.1475C>A (p.Ser492Ter)
8	g.60841932C>G	CA371319216	CHD7	c.4730C>G (p.Ser1577Ter) c.1717-20297C>G (n.1717-20297C>G) c.2717C>G (p.Ser906Ter) c.2267C>G (p.Ser756Ter) c.1475C>G (p.Ser492Ter)
8	g.60841932C>T	CA371319214	CHD7	c.4730C>T (p.Ser1577Leu) c.1717-20297C>T (n.1717-20297C>T) c.2717C>T (p.Ser906Leu) c.2267C>T (p.Ser756Leu) c.1475C>T (p.Ser492Leu)
8	g.60841933del	CA2695209737	CHD7	c.4731del (p.Asp1578ThrfsTer?) c.1717-20296del (n.1717-20296del) c.2718del (p.Asp907ThrfsTer?) c.2268del (p.Asp757ThrfsTer?) c.1476del (p.Asp493ThrfsTer?)
8	g.60841933A>C	CA460848190	CHD7	c.4731A>C (p.Ser1577=) c.1717-20296A>C (n.1717-20296A>C) c.2718A>C (p.Ser906=) c.2268A>C (p.Ser756=) c.1476A>C (p.Ser492=)
8	g.60841933A>G	CA460848191	CHD7	c.4731A>G (p.Ser1577=) c.1717-20296A>G (n.1717-20296A>G) c.2718A>G (p.Ser906=) c.2268A>G (p.Ser756=) c.1476A>G (p.Ser492=)
8	g.60841933A>T	CA460848192	CHD7	c.4731A>T (p.Ser1577=) c.1717-20296A>T (n.1717-20296A>T) c.2718A>T (p.Ser906=) c.2268A>T (p.Ser756=) c.1476A>T (p.Ser492=)
8	g.60841934G>A	CA371319219	CHD7	c.4732G>A (p.Asp1578Asn) c.1717-20295G>A (n.1717-20295G>A) c.2719G>A (p.Asp907Asn) c.2269G>A (p.Asp757Asn) c.1477G>A (p.Asp493Asn)	COSMIC
8	g.60841934G>C	CA371319222	CHD7	c.4732G>C (p.Asp1578His) c.1717-20295G>C (n.1717-20295G>C) c.2719G>C (p.Asp907His) c.2269G>C (p.Asp757His) c.1477G>C (p.Asp493His)
8	g.60841934G>T	CA371319223	CHD7	c.4732G>T (p.Asp1578Tyr) c.1717-20295G>T (n.1717-20295G>T) c.2719G>T (p.Asp907Tyr) c.2269G>T (p.Asp757Tyr) c.1477G>T (p.Asp493Tyr)
8	g.60841935A=	CA1788123001	CHD7	c.4733A= (p.Asp1578=) c.1717-20294A= (n.1717-20294A=) c.2720A= (p.Asp907=) c.2270A= (p.Asp757=) c.1478A= (p.Asp493=)
8	g.60841935A>C	CA371319225	CHD7	c.4733A>C (p.Asp1578Ala) c.1717-20294A>C (n.1717-20294A>C) c.2720A>C (p.Asp907Ala) c.2270A>C (p.Asp757Ala) c.1478A>C (p.Asp493Ala)
8	g.60841935A>G	CA371319228	CHD7	c.4733A>G (p.Asp1578Gly) c.1717-20294A>G (n.1717-20294A>G) c.2720A>G (p.Asp907Gly) c.2270A>G (p.Asp757Gly) c.1478A>G (p.Asp493Gly)
8	g.60841935A>T	CA371319229	CHD7	c.4733A>T (p.Asp1578Val) c.1717-20294A>T (n.1717-20294A>T) c.2720A>T (p.Asp907Val) c.2270A>T (p.Asp757Val) c.1478A>T (p.Asp493Val)	dbSNP
8	g.60841936C>A	CA371319231	CHD7	c.4734C>A (p.Asp1578Glu) c.1717-20293C>A (n.1717-20293C>A) c.2721C>A (p.Asp907Glu) c.2271C>A (p.Asp757Glu) c.1479C>A (p.Asp493Glu)
8	g.60841936C=	CA1788123006	CHD7	c.4734C= (p.Asp1578=) c.1717-20293C= (n.1717-20293C=) c.2721C= (p.Asp907=) c.2271C= (p.Asp757=) c.1479C= (p.Asp493=)
8	g.60841936C>G	CA371319232	CHD7	c.4734C>G (p.Asp1578Glu) c.1717-20293C>G (n.1717-20293C>G) c.2721C>G (p.Asp907Glu) c.2271C>G (p.Asp757Glu) c.1479C>G (p.Asp493Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60841936C>T	CA460848193	CHD7	c.4734C>T (p.Asp1578=) c.1717-20293C>T (n.1717-20293C>T) c.2721C>T (p.Asp907=) c.2271C>T (p.Asp757=) c.1479C>T (p.Asp493=)
8	g.60841937T>A	CA371319235	CHD7	c.4735T>A (p.Leu1579Met) c.1717-20292T>A (n.1717-20292T>A) c.2722T>A (p.Leu908Met) c.2272T>A (p.Leu758Met) c.1480T>A (p.Leu494Met)
8	g.60841937T>C	CA460848194	CHD7	c.4735T>C (p.Leu1579=) c.1717-20292T>C (n.1717-20292T>C) c.2722T>C (p.Leu908=) c.2272T>C (p.Leu758=) c.1480T>C (p.Leu494=)
8	g.60841937T>G	CA371319236	CHD7	c.4735T>G (p.Leu1579Val) c.1717-20292T>G (n.1717-20292T>G) c.2722T>G (p.Leu908Val) c.2272T>G (p.Leu758Val) c.1480T>G (p.Leu494Val)
8	g.60841938T>A	CA371319241	CHD7	c.4736T>A (p.Leu1579Ter) c.1717-20291T>A (n.1717-20291T>A) c.2723T>A (p.Leu908Ter) c.2273T>A (p.Leu758Ter) c.1481T>A (p.Leu494Ter)
8	g.60841938T>C	CA177349997	CHD7	c.4736T>C (p.Leu1579Ser) c.1717-20291T>C (n.1717-20291T>C) c.2723T>C (p.Leu908Ser) c.2273T>C (p.Leu758Ser) c.1481T>C (p.Leu494Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60841938T>G	CA371319237	CHD7	c.4736T>G (p.Leu1579Trp) c.1717-20291T>G (n.1717-20291T>G) c.2723T>G (p.Leu908Trp) c.2273T>G (p.Leu758Trp) c.1481T>G (p.Leu494Trp)
8	g.60841938T=	CA1788123012	CHD7	c.4736T= (p.Leu1579=) c.1717-20291T= (n.1717-20291T=) c.2723T= (p.Leu908=) c.2273T= (p.Leu758=) c.1481T= (p.Leu494=)
8	g.60841939G>A	CA460848195	CHD7	c.4737G>A (p.Leu1579=) c.1717-20290G>A (n.1717-20290G>A) c.2724G>A (p.Leu908=) c.2274G>A (p.Leu758=) c.1482G>A (p.Leu494=)
8	g.60841939G>C	CA177350000	CHD7	c.4737G>C (p.Leu1579Phe) c.1717-20290G>C (n.1717-20290G>C) c.2724G>C (p.Leu908Phe) c.2274G>C (p.Leu758Phe) c.1482G>C (p.Leu494Phe)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60841939G=	CA1788123015	CHD7	c.4737G= (p.Leu1579=) c.1717-20290G= (n.1717-20290G=) c.2724G= (p.Leu908=) c.2274G= (p.Leu758=) c.1482G= (p.Leu494=)
8	g.60841939G>T	CA371319243	CHD7	c.4737G>T (p.Leu1579Phe) c.1717-20290G>T (n.1717-20290G>T) c.2724G>T (p.Leu908Phe) c.2274G>T (p.Leu758Phe) c.1482G>T (p.Leu494Phe)
8	g.60841940G>A	CA371319246	CHD7	c.4738G>A (p.Glu1580Lys) c.1717-20289G>A (n.1717-20289G>A) c.2725G>A (p.Glu909Lys) c.2275G>A (p.Glu759Lys) c.1483G>A (p.Glu495Lys)
8	g.60841940G>C	CA371319249	CHD7	c.4738G>C (p.Glu1580Gln) c.1717-20289G>C (n.1717-20289G>C) c.2725G>C (p.Glu909Gln) c.2275G>C (p.Glu759Gln) c.1483G>C (p.Glu495Gln)
8	g.60841940G=	CA1788123019	CHD7	c.4738G= (p.Glu1580=) c.1717-20289G= (n.1717-20289G=) c.2725G= (p.Glu909=) c.2275G= (p.Glu759=) c.1483G= (p.Glu495=)
8	g.60841940G>T	CA371319250	CHD7	c.4738G>T (p.Glu1580Ter) c.1717-20289G>T (n.1717-20289G>T) c.2725G>T (p.Glu909Ter) c.2275G>T (p.Glu759Ter) c.1483G>T (p.Glu495Ter)	ClinVar dbSNP
8	g.60841941A>C	CA371319254	CHD7	c.4739A>C (p.Glu1580Ala) c.1717-20288A>C (n.1717-20288A>C) c.2726A>C (p.Glu909Ala) c.2276A>C (p.Glu759Ala) c.1484A>C (p.Glu495Ala)
8	g.60841941A>G	CA371319255	CHD7	c.4739A>G (p.Glu1580Gly) c.1717-20288A>G (n.1717-20288A>G) c.2726A>G (p.Glu909Gly) c.2276A>G (p.Glu759Gly) c.1484A>G (p.Glu495Gly)
8	g.60841941A>T	CA371319258	CHD7	c.4739A>T (p.Glu1580Val) c.1717-20288A>T (n.1717-20288A>T) c.2726A>T (p.Glu909Val) c.2276A>T (p.Glu759Val) c.1484A>T (p.Glu495Val)
8	g.60841942A>C	CA371319261	CHD7	c.4740A>C (p.Glu1580Asp) c.1717-20287A>C (n.1717-20287A>C) c.2727A>C (p.Glu909Asp) c.2277A>C (p.Glu759Asp) c.1485A>C (p.Glu495Asp)
8	g.60841942A>G	CA460848196	CHD7	c.4740A>G (p.Glu1580=) c.1717-20287A>G (n.1717-20287A>G) c.2727A>G (p.Glu909=) c.2277A>G (p.Glu759=) c.1485A>G (p.Glu495=)
8	g.60841942A>T	CA371319263	CHD7	c.4740A>T (p.Glu1580Asp) c.1717-20287A>T (n.1717-20287A>T) c.2727A>T (p.Glu909Asp) c.2277A>T (p.Glu759Asp) c.1485A>T (p.Glu495Asp)
8	g.60841943A=	CA1788123021	CHD7	c.4741A= (p.Ser1581=) c.1717-20286A= (n.1717-20286A=) c.2728A= (p.Ser910=) c.2278A= (p.Ser760=) c.1486A= (p.Ser496=)
8	g.60841943A>C	CA371319265	CHD7	c.4741A>C (p.Ser1581Arg) c.1717-20286A>C (n.1717-20286A>C) c.2728A>C (p.Ser910Arg) c.2278A>C (p.Ser760Arg) c.1486A>C (p.Ser496Arg)
8	g.60841943A>G	CA4760184	CHD7	c.4741A>G (p.Ser1581Gly) c.1717-20286A>G (n.1717-20286A>G) c.2728A>G (p.Ser910Gly) c.2278A>G (p.Ser760Gly) c.1486A>G (p.Ser496Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841943A>T	CA371319268	CHD7	c.4741A>T (p.Ser1581Cys) c.1717-20286A>T (n.1717-20286A>T) c.2728A>T (p.Ser910Cys) c.2278A>T (p.Ser760Cys) c.1486A>T (p.Ser496Cys)
8	g.60841944G>A	CA371319275	CHD7	c.4742G>A (p.Ser1581Asn) c.1717-20285G>A (n.1717-20285G>A) c.2729G>A (p.Ser910Asn) c.2279G>A (p.Ser760Asn) c.1487G>A (p.Ser496Asn)
8	g.60841944G>C	CA371319278	CHD7	c.4742G>C (p.Ser1581Thr) c.1717-20285G>C (n.1717-20285G>C) c.2729G>C (p.Ser910Thr) c.2279G>C (p.Ser760Thr) c.1487G>C (p.Ser496Thr)
8	g.60841944G>T	CA371319273	CHD7	c.4742G>T (p.Ser1581Ile) c.1717-20285G>T (n.1717-20285G>T) c.2729G>T (p.Ser910Ile) c.2279G>T (p.Ser760Ile) c.1487G>T (p.Ser496Ile)
8	g.60841945T>A	CA371319280	CHD7	c.4743T>A (p.Ser1581Arg) c.1717-20284T>A (n.1717-20284T>A) c.2730T>A (p.Ser910Arg) c.2280T>A (p.Ser760Arg) c.1488T>A (p.Ser496Arg)
8	g.60841945T>C	CA460848197	CHD7	c.4743T>C (p.Ser1581=) c.1717-20284T>C (n.1717-20284T>C) c.2730T>C (p.Ser910=) c.2280T>C (p.Ser760=) c.1488T>C (p.Ser496=)
8	g.60841945T>G	CA371319282	CHD7	c.4743T>G (p.Ser1581Arg) c.1717-20284T>G (n.1717-20284T>G) c.2730T>G (p.Ser910Arg) c.2280T>G (p.Ser760Arg) c.1488T>G (p.Ser496Arg)
8	g.60841946G>A	CA371319286	CHD7	c.4744G>A (p.Asp1582Asn) c.1717-20283G>A (n.1717-20283G>A) c.2731G>A (p.Asp911Asn) c.2281G>A (p.Asp761Asn) c.1489G>A (p.Asp497Asn)
8	g.60841946G>C	CA371319287	CHD7	c.4744G>C (p.Asp1582His) c.1717-20283G>C (n.1717-20283G>C) c.2731G>C (p.Asp911His) c.2281G>C (p.Asp761His) c.1489G>C (p.Asp497His)
8	g.60841946G>T	CA371319288	CHD7	c.4744G>T (p.Asp1582Tyr) c.1717-20283G>T (n.1717-20283G>T) c.2731G>T (p.Asp911Tyr) c.2281G>T (p.Asp761Tyr) c.1489G>T (p.Asp497Tyr)
8	g.60841947A=	CA1788123023	CHD7	c.4745A= (p.Asp1582=) c.1717-20282A= (n.1717-20282A=) c.2732A= (p.Asp911=) c.2282A= (p.Asp761=) c.1490A= (p.Asp497=)
8	g.60841947A>C	CA371319299	CHD7	c.4745A>C (p.Asp1582Ala) c.1717-20282A>C (n.1717-20282A>C) c.2732A>C (p.Asp911Ala) c.2282A>C (p.Asp761Ala) c.1490A>C (p.Asp497Ala)
8	g.60841947A>G	CA371319290	CHD7	c.4745A>G (p.Asp1582Gly) c.1717-20282A>G (n.1717-20282A>G) c.2732A>G (p.Asp911Gly) c.2282A>G (p.Asp761Gly) c.1490A>G (p.Asp497Gly)	dbSNP gnomAD v3 gnomAD v4
8	g.60841947A>T	CA371319293	CHD7	c.4745A>T (p.Asp1582Val) c.1717-20282A>T (n.1717-20282A>T) c.2732A>T (p.Asp911Val) c.2282A>T (p.Asp761Val) c.1490A>T (p.Asp497Val)
8	g.60841948T>A	CA371319304	CHD7	c.4746T>A (p.Asp1582Glu) c.1717-20281T>A (n.1717-20281T>A) c.2733T>A (p.Asp911Glu) c.2283T>A (p.Asp761Glu) c.1491T>A (p.Asp497Glu)
8	g.60841948T>C	CA4760185	CHD7	c.4746T>C (p.Asp1582=) c.1717-20281T>C (n.1717-20281T>C) c.2733T>C (p.Asp911=) c.2283T>C (p.Asp761=) c.1491T>C (p.Asp497=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60841948T>G	CA371319305	CHD7	c.4746T>G (p.Asp1582Glu) c.1717-20281T>G (n.1717-20281T>G) c.2733T>G (p.Asp911Glu) c.2283T>G (p.Asp761Glu) c.1491T>G (p.Asp497Glu)	ClinVar
8	g.60841948T=	CA1788123027	CHD7	c.4746T= (p.Asp1582=) c.1717-20281T= (n.1717-20281T=) c.2733T= (p.Asp911=) c.2283T= (p.Asp761=) c.1491T= (p.Asp497=)
8	g.60841949del	CA2580078433	CHD7	c.4747del (p.Ser1583LeufsTer?) c.1717-20280del (n.1717-20280del) c.2734del (p.Ser912LeufsTer?) c.2284del (p.Ser762LeufsTer?) c.1492del (p.Ser498LeufsTer?)	ClinVar
8	g.60841949T>A	CA371319307	CHD7	c.4747T>A (p.Ser1583Thr) c.1717-20280T>A (n.1717-20280T>A) c.2734T>A (p.Ser912Thr) c.2284T>A (p.Ser762Thr) c.1492T>A (p.Ser498Thr)
8	g.60841949T>C	CA371319309	CHD7	c.4747T>C (p.Ser1583Pro) c.1717-20280T>C (n.1717-20280T>C) c.2734T>C (p.Ser912Pro) c.2284T>C (p.Ser762Pro) c.1492T>C (p.Ser498Pro)	gnomAD v4
8	g.60841949T>G	CA371319312	CHD7	c.4747T>G (p.Ser1583Ala) c.1717-20280T>G (n.1717-20280T>G) c.2734T>G (p.Ser912Ala) c.2284T>G (p.Ser762Ala) c.1492T>G (p.Ser498Ala)
8	g.60841950C>A	CA371319320	CHD7	c.4748C>A (p.Ser1583Tyr) c.1717-20279C>A (n.1717-20279C>A) c.2735C>A (p.Ser912Tyr) c.2285C>A (p.Ser762Tyr) c.1493C>A (p.Ser498Tyr)
8	g.60841950C=	CA1788123029	CHD7	c.4748C= (p.Ser1583=) c.1717-20279C= (n.1717-20279C=) c.2735C= (p.Ser912=) c.2285C= (p.Ser762=) c.1493C= (p.Ser498=)
8	g.60841950C>G	CA371319318	CHD7	c.4748C>G (p.Ser1583Cys) c.1717-20279C>G (n.1717-20279C>G) c.2735C>G (p.Ser912Cys) c.2285C>G (p.Ser762Cys) c.1493C>G (p.Ser498Cys)	gnomAD v4
8	g.60841950C>T	CA371319316	CHD7	c.4748C>T (p.Ser1583Phe) c.1717-20279C>T (n.1717-20279C>T) c.2735C>T (p.Ser912Phe) c.2285C>T (p.Ser762Phe) c.1493C>T (p.Ser498Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60841951T>A	CA460848198	CHD7	c.4749T>A (p.Ser1583=) c.1717-20278T>A (n.1717-20278T>A) c.2736T>A (p.Ser912=) c.2286T>A (p.Ser762=) c.1494T>A (p.Ser498=)
8	g.60841951T>C	CA460848199	CHD7	c.4749T>C (p.Ser1583=) c.1717-20278T>C (n.1717-20278T>C) c.2736T>C (p.Ser912=) c.2286T>C (p.Ser762=) c.1494T>C (p.Ser498=)
8	g.60841951T>G	CA460848200	CHD7	c.4749T>G (p.Ser1583=) c.1717-20278T>G (n.1717-20278T>G) c.2736T>G (p.Ser912=) c.2286T>G (p.Ser762=) c.1494T>G (p.Ser498=)
8	g.60841952G>A	CA371319322	CHD7	c.4750G>A (p.Glu1584Lys) c.1717-20277G>A (n.1717-20277G>A) c.2737G>A (p.Glu913Lys) c.2287G>A (p.Glu763Lys) c.1495G>A (p.Glu499Lys)
8	g.60841952G>C	CA371319326	CHD7	c.4750G>C (p.Glu1584Gln) c.1717-20277G>C (n.1717-20277G>C) c.2737G>C (p.Glu913Gln) c.2287G>C (p.Glu763Gln) c.1495G>C (p.Glu499Gln)
8	g.60841952G>T	CA371319324	CHD7	c.4750G>T (p.Glu1584Ter) c.1717-20277G>T (n.1717-20277G>T) c.2737G>T (p.Glu913Ter) c.2287G>T (p.Glu763Ter) c.1495G>T (p.Glu499Ter)
8	g.60841953A>C	CA371319329	CHD7	c.4751A>C (p.Glu1584Ala) c.1717-20276A>C (n.1717-20276A>C) c.2738A>C (p.Glu913Ala) c.2288A>C (p.Glu763Ala) c.1496A>C (p.Glu499Ala)
8	g.60841953A>G	CA371319331	CHD7	c.4751A>G (p.Glu1584Gly) c.1717-20276A>G (n.1717-20276A>G) c.2738A>G (p.Glu913Gly) c.2288A>G (p.Glu763Gly) c.1496A>G (p.Glu499Gly)
8	g.60841953A>T	CA371319334	CHD7	c.4751A>T (p.Glu1584Val) c.1717-20276A>T (n.1717-20276A>T) c.2738A>T (p.Glu913Val) c.2288A>T (p.Glu763Val) c.1496A>T (p.Glu499Val)
8	g.60841954A=	CA1788123032	CHD7	c.4752A= (p.Glu1584=) c.1717-20275A= (n.1717-20275A=) c.2739A= (p.Glu913=) c.2289A= (p.Glu763=) c.1497A= (p.Glu499=)
8	g.60841954A>C	CA371319335	CHD7	c.4752A>C (p.Glu1584Asp) c.1717-20275A>C (n.1717-20275A>C) c.2739A>C (p.Glu913Asp) c.2289A>C (p.Glu763Asp) c.1497A>C (p.Glu499Asp)
8	g.60841954A>G	CA4760186	CHD7	c.4752A>G (p.Glu1584=) c.1717-20275A>G (n.1717-20275A>G) c.2739A>G (p.Glu913=) c.2289A>G (p.Glu763=) c.1497A>G (p.Glu499=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60841954A>T	CA371319338	CHD7	c.4752A>T (p.Glu1584Asp) c.1717-20275A>T (n.1717-20275A>T) c.2739A>T (p.Glu913Asp) c.2289A>T (p.Glu763Asp) c.1497A>T (p.Glu499Asp)

Number of alleles fetched