Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.60845300del	CA658657772	CHD7	c.5101del (p.Gln1701ArgfsTer?) c.1717-16929del (n.1717-16929del) c.3088del (p.Gln1030ArgfsTer?) c.2638del (p.Gln880ArgfsTer?) c.1846del (p.Gln616ArgfsTer?)	ClinVar dbSNP
8	g.60845299C>A	CA461104667	CHD7	c.5100C>A (p.Ala1700=) c.1717-16930C>A (n.1717-16930C>A) c.3087C>A (p.Ala1029=) c.2637C>A (p.Ala879=) c.1845C>A (p.Ala615=)
8	g.60845299C=	CA1788128643	CHD7	c.5100C= (p.Ala1700=) c.1717-16930C= (n.1717-16930C=) c.3087C= (p.Ala1029=) c.2637C= (p.Ala879=) c.1845C= (p.Ala615=)
8	g.60845299C>G	CA461104669	CHD7	c.5100C>G (p.Ala1700=) c.1717-16930C>G (n.1717-16930C>G) c.3087C>G (p.Ala1029=) c.2637C>G (p.Ala879=) c.1845C>G (p.Ala615=)
8	g.60845299C>T	CA461104668	CHD7	c.5100C>T (p.Ala1700=) c.1717-16930C>T (n.1717-16930C>T) c.3087C>T (p.Ala1029=) c.2637C>T (p.Ala879=) c.1845C>T (p.Ala615=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845300C>A	CA371320383	CHD7	c.5101C>A (p.Gln1701Lys) c.1717-16929C>A (n.1717-16929C>A) c.3088C>A (p.Gln1030Lys) c.2638C>A (p.Gln880Lys) c.1846C>A (p.Gln616Lys)	dbSNP
8	g.60845300C>G	CA371320384	CHD7	c.5101C>G (p.Gln1701Glu) c.1717-16929C>G (n.1717-16929C>G) c.3088C>G (p.Gln1030Glu) c.2638C>G (p.Gln880Glu) c.1846C>G (p.Gln616Glu)
8	g.60845300C>T	CA371320386	CHD7	c.5101C>T (p.Gln1701Ter) c.1717-16929C>T (n.1717-16929C>T) c.3088C>T (p.Gln1030Ter) c.2638C>T (p.Gln880Ter) c.1846C>T (p.Gln616Ter)	ClinVar
8	g.60845301A>C	CA371320388	CHD7	c.5102A>C (p.Gln1701Pro) c.1717-16928A>C (n.1717-16928A>C) c.3089A>C (p.Gln1030Pro) c.2639A>C (p.Gln880Pro) c.1847A>C (p.Gln616Pro)
8	g.60845301A>G	CA371320389	CHD7	c.5102A>G (p.Gln1701Arg) c.1717-16928A>G (n.1717-16928A>G) c.3089A>G (p.Gln1030Arg) c.2639A>G (p.Gln880Arg) c.1847A>G (p.Gln616Arg)
8	g.60845301A>T	CA371320390	CHD7	c.5102A>T (p.Gln1701Leu) c.1717-16928A>T (n.1717-16928A>T) c.3089A>T (p.Gln1030Leu) c.2639A>T (p.Gln880Leu) c.1847A>T (p.Gln616Leu)
8	g.60845302G>A	CA461104676	CHD7	c.5103G>A (p.Gln1701=) c.1717-16927G>A (n.1717-16927G>A) c.3090G>A (p.Gln1030=) c.2640G>A (p.Gln880=) c.1848G>A (p.Gln616=)
8	g.60845302G>C	CA371320392	CHD7	c.5103G>C (p.Gln1701His) c.1717-16927G>C (n.1717-16927G>C) c.3090G>C (p.Gln1030His) c.2640G>C (p.Gln880His) c.1848G>C (p.Gln616His)	ClinVar dbSNP
8	g.60845302G>T	CA371320393	CHD7	c.5103G>T (p.Gln1701His) c.1717-16927G>T (n.1717-16927G>T) c.3090G>T (p.Gln1030His) c.2640G>T (p.Gln880His) c.1848G>T (p.Gln616His)	gnomAD v4
8	g.60845303A>C	CA371320394	CHD7	c.5104A>C (p.Ser1702Arg) c.1717-16926A>C (n.1717-16926A>C) c.3091A>C (p.Ser1031Arg) c.2641A>C (p.Ser881Arg) c.1849A>C (p.Ser617Arg)
8	g.60845303A>G	CA371320396	CHD7	c.5104A>G (p.Ser1702Gly) c.1717-16926A>G (n.1717-16926A>G) c.3091A>G (p.Ser1031Gly) c.2641A>G (p.Ser881Gly) c.1849A>G (p.Ser617Gly)
8	g.60845303A>T	CA371320397	CHD7	c.5104A>T (p.Ser1702Cys) c.1717-16926A>T (n.1717-16926A>T) c.3091A>T (p.Ser1031Cys) c.2641A>T (p.Ser881Cys) c.1849A>T (p.Ser617Cys)	gnomAD v4
8	g.60845304G>A	CA4760260	CHD7	c.5105G>A (p.Ser1702Asn) c.1717-16925G>A (n.1717-16925G>A) c.3092G>A (p.Ser1031Asn) c.2642G>A (p.Ser881Asn) c.1850G>A (p.Ser617Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845304G>C	CA371320399	CHD7	c.5105G>C (p.Ser1702Thr) c.1717-16925G>C (n.1717-16925G>C) c.3092G>C (p.Ser1031Thr) c.2642G>C (p.Ser881Thr) c.1850G>C (p.Ser617Thr)
8	g.60845304G=	CA1788128647	CHD7	c.5105G= (p.Ser1702=) c.1717-16925G= (n.1717-16925G=) c.3092G= (p.Ser1031=) c.2642G= (p.Ser881=) c.1850G= (p.Ser617=)
8	g.60845304G>T	CA371320400	CHD7	c.5105G>T (p.Ser1702Ile) c.1717-16925G>T (n.1717-16925G>T) c.3092G>T (p.Ser1031Ile) c.2642G>T (p.Ser881Ile) c.1850G>T (p.Ser617Ile)
8	g.60845305C>A	CA371320403	CHD7	c.5106C>A (p.Ser1702Arg) c.1717-16924C>A (n.1717-16924C>A) c.3093C>A (p.Ser1031Arg) c.2643C>A (p.Ser881Arg) c.1851C>A (p.Ser617Arg)
8	g.60845305C>G	CA371320404	CHD7	c.5106C>G (p.Ser1702Arg) c.1717-16924C>G (n.1717-16924C>G) c.3093C>G (p.Ser1031Arg) c.2643C>G (p.Ser881Arg) c.1851C>G (p.Ser617Arg)
8	g.60845305C>T	CA461104681	CHD7	c.5106C>T (p.Ser1702=) c.1717-16924C>T (n.1717-16924C>T) c.3093C>T (p.Ser1031=) c.2643C>T (p.Ser881=) c.1851C>T (p.Ser617=)	COSMIC
8	g.60845306A>C	CA371320407	CHD7	c.5107A>C (p.Thr1703Pro) c.1717-16923A>C (n.1717-16923A>C) c.3094A>C (p.Thr1032Pro) c.2644A>C (p.Thr882Pro) c.1852A>C (p.Thr618Pro)
8	g.60845306A>G	CA371320408	CHD7	c.5107A>G (p.Thr1703Ala) c.1717-16923A>G (n.1717-16923A>G) c.3094A>G (p.Thr1032Ala) c.2644A>G (p.Thr882Ala) c.1852A>G (p.Thr618Ala)	gnomAD v4
8	g.60845306A>T	CA371320409	CHD7	c.5107A>T (p.Thr1703Ser) c.1717-16923A>T (n.1717-16923A>T) c.3094A>T (p.Thr1032Ser) c.2644A>T (p.Thr882Ser) c.1852A>T (p.Thr618Ser)
8	g.60845307C>A	CA371320411	CHD7	c.5108C>A (p.Thr1703Lys) c.1717-16922C>A (n.1717-16922C>A) c.3095C>A (p.Thr1032Lys) c.2645C>A (p.Thr882Lys) c.1853C>A (p.Thr618Lys)
8	g.60845307C=	CA1788128654	CHD7	c.5108C= (p.Thr1703=) c.1717-16922C= (n.1717-16922C=) c.3095C= (p.Thr1032=) c.2645C= (p.Thr882=) c.1853C= (p.Thr618=)
8	g.60845307C>G	CA371320413	CHD7	c.5108C>G (p.Thr1703Arg) c.1717-16922C>G (n.1717-16922C>G) c.3095C>G (p.Thr1032Arg) c.2645C>G (p.Thr882Arg) c.1853C>G (p.Thr618Arg)	dbSNP gnomAD v2 gnomAD v4
8	g.60845307C>T	CA371320414	CHD7	c.5108C>T (p.Thr1703Ile) c.1717-16922C>T (n.1717-16922C>T) c.3095C>T (p.Thr1032Ile) c.2645C>T (p.Thr882Ile) c.1853C>T (p.Thr618Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60845308A=	CA1788128658	CHD7	c.5109A= (p.Thr1703=) c.1717-16921A= (n.1717-16921A=) c.3096A= (p.Thr1032=) c.2646A= (p.Thr882=) c.1854A= (p.Thr618=)
8	g.60845308A>C	CA461104686	CHD7	c.5109A>C (p.Thr1703=) c.1717-16921A>C (n.1717-16921A>C) c.3096A>C (p.Thr1032=) c.2646A>C (p.Thr882=) c.1854A>C (p.Thr618=)	dbSNP
8	g.60845308A>G	CA177351241	CHD7	c.5109A>G (p.Thr1703=) c.1717-16921A>G (n.1717-16921A>G) c.3096A>G (p.Thr1032=) c.2646A>G (p.Thr882=) c.1854A>G (p.Thr618=)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.60845308A>T	CA461104687	CHD7	c.5109A>T (p.Thr1703=) c.1717-16921A>T (n.1717-16921A>T) c.3096A>T (p.Thr1032=) c.2646A>T (p.Thr882=) c.1854A>T (p.Thr618=)
8	g.60845309C>A	CA371320416	CHD7	c.5110C>A (p.Gln1704Lys) c.1717-16920C>A (n.1717-16920C>A) c.3097C>A (p.Gln1033Lys) c.2647C>A (p.Gln883Lys) c.1855C>A (p.Gln619Lys)
8	g.60845309C=	CA1788128663	CHD7	c.5110C= (p.Gln1704=) c.1717-16920C= (n.1717-16920C=) c.3097C= (p.Gln1033=) c.2647C= (p.Gln883=) c.1855C= (p.Gln619=)
8	g.60845309C>G	CA371320417	CHD7	c.5110C>G (p.Gln1704Glu) c.1717-16920C>G (n.1717-16920C>G) c.3097C>G (p.Gln1033Glu) c.2647C>G (p.Gln883Glu) c.1855C>G (p.Gln619Glu)
8	g.60845309C>T	CA371320419	CHD7	c.5110C>T (p.Gln1704Ter) c.1717-16920C>T (n.1717-16920C>T) c.3097C>T (p.Gln1033Ter) c.2647C>T (p.Gln883Ter) c.1855C>T (p.Gln619Ter)	ClinVar dbSNP
8	g.60845310A>C	CA371320424	CHD7	c.5111A>C (p.Gln1704Pro) c.1717-16919A>C (n.1717-16919A>C) c.3098A>C (p.Gln1033Pro) c.2648A>C (p.Gln883Pro) c.1856A>C (p.Gln619Pro)
8	g.60845310A>G	CA371320422	CHD7	c.5111A>G (p.Gln1704Arg) c.1717-16919A>G (n.1717-16919A>G) c.3098A>G (p.Gln1033Arg) c.2648A>G (p.Gln883Arg) c.1856A>G (p.Gln619Arg)
8	g.60845310A>T	CA371320421	CHD7	c.5111A>T (p.Gln1704Leu) c.1717-16919A>T (n.1717-16919A>T) c.3098A>T (p.Gln1033Leu) c.2648A>T (p.Gln883Leu) c.1856A>T (p.Gln619Leu)
8	g.60845311G>A	CA461104695	CHD7	c.5112G>A (p.Gln1704=) c.1717-16918G>A (n.1717-16918G>A) c.3099G>A (p.Gln1033=) c.2649G>A (p.Gln883=) c.1857G>A (p.Gln619=)
8	g.60845311G>C	CA371320427	CHD7	c.5112G>C (p.Gln1704His) c.1717-16918G>C (n.1717-16918G>C) c.3099G>C (p.Gln1033His) c.2649G>C (p.Gln883His) c.1857G>C (p.Gln619His)
8	g.60845311G=	CA1788128673	CHD7	c.5112G= (p.Gln1704=) c.1717-16918G= (n.1717-16918G=) c.3099G= (p.Gln1033=) c.2649G= (p.Gln883=) c.1857G= (p.Gln619=)
8	g.60845311G>T	CA371320425	CHD7	c.5112G>T (p.Gln1704His) c.1717-16918G>T (n.1717-16918G>T) c.3099G>T (p.Gln1033His) c.2649G>T (p.Gln883His) c.1857G>T (p.Gln619His)
8	g.60845312C>A	CA371320429	CHD7	c.5113C>A (p.Pro1705Thr) c.1717-16917C>A (n.1717-16917C>A) c.3100C>A (p.Pro1034Thr) c.2650C>A (p.Pro884Thr) c.1858C>A (p.Pro620Thr)
8	g.60845312C>G	CA371320430	CHD7	c.5113C>G (p.Pro1705Ala) c.1717-16917C>G (n.1717-16917C>G) c.3100C>G (p.Pro1034Ala) c.2650C>G (p.Pro884Ala) c.1858C>G (p.Pro620Ala)
8	g.60845312C>T	CA371320432	CHD7	c.5113C>T (p.Pro1705Ser) c.1717-16917C>T (n.1717-16917C>T) c.3100C>T (p.Pro1034Ser) c.2650C>T (p.Pro884Ser) c.1858C>T (p.Pro620Ser)	gnomAD v4
8	g.60845313dup	CA658797108	CHD7	c.5114dup (p.Val1706GlyfsTer?) c.1717-16916dup (n.1717-16916dup) c.3101dup (p.Val1035GlyfsTer?) c.2651dup (p.Val885GlyfsTer?) c.1859dup (p.Val621GlyfsTer?)	ClinVar dbSNP
8	g.60845313C>A	CA371320434	CHD7	c.5114C>A (p.Pro1705Gln) c.1717-16916C>A (n.1717-16916C>A) c.3101C>A (p.Pro1034Gln) c.2651C>A (p.Pro884Gln) c.1859C>A (p.Pro620Gln)	ClinVar dbSNP
8	g.60845313C=	CA1788128691	CHD7	c.5114C= (p.Pro1705=) c.1717-16916C= (n.1717-16916C=) c.3101C= (p.Pro1034=) c.2651C= (p.Pro884=) c.1859C= (p.Pro620=)
8	g.60845313C>G	CA371320435	CHD7	c.5114C>G (p.Pro1705Arg) c.1717-16916C>G (n.1717-16916C>G) c.3101C>G (p.Pro1034Arg) c.2651C>G (p.Pro884Arg) c.1859C>G (p.Pro620Arg)	ClinVar dbSNP
8	g.60845313C>T	CA4760261	CHD7	c.5114C>T (p.Pro1705Leu) c.1717-16916C>T (n.1717-16916C>T) c.3101C>T (p.Pro1034Leu) c.2651C>T (p.Pro884Leu) c.1859C>T (p.Pro620Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8	g.60845314G>A	CA242350	CHD7	c.5115G>A (p.Pro1705=) c.1717-16915G>A (n.1717-16915G>A) c.3102G>A (p.Pro1034=) c.2652G>A (p.Pro884=) c.1860G>A (p.Pro620=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845314G>C	CA461104702	CHD7	c.5115G>C (p.Pro1705=) c.1717-16915G>C (n.1717-16915G>C) c.3102G>C (p.Pro1034=) c.2652G>C (p.Pro884=) c.1860G>C (p.Pro620=)
8	g.60845314G=	CA1788128704	CHD7	c.5115G= (p.Pro1705=) c.1717-16915G= (n.1717-16915G=) c.3102G= (p.Pro1034=) c.2652G= (p.Pro884=) c.1860G= (p.Pro620=)
8	g.60845314G>T	CA461104704	CHD7	c.5115G>T (p.Pro1705=) c.1717-16915G>T (n.1717-16915G>T) c.3102G>T (p.Pro1034=) c.2652G>T (p.Pro884=) c.1860G>T (p.Pro620=)
8	g.60845315G>A	CA371320438	CHD7	c.5116G>A (p.Val1706Met) c.1717-16914G>A (n.1717-16914G>A) c.3103G>A (p.Val1035Met) c.2653G>A (p.Val885Met) c.1861G>A (p.Val621Met)
8	g.60845315G>C	CA371320439	CHD7	c.5116G>C (p.Val1706Leu) c.1717-16914G>C (n.1717-16914G>C) c.3103G>C (p.Val1035Leu) c.2653G>C (p.Val885Leu) c.1861G>C (p.Val621Leu)
8	g.60845315G>T	CA371320441	CHD7	c.5116G>T (p.Val1706Leu) c.1717-16914G>T (n.1717-16914G>T) c.3103G>T (p.Val1035Leu) c.2653G>T (p.Val885Leu) c.1861G>T (p.Val621Leu)
8	g.60845316T>A	CA371320443	CHD7	c.5117T>A (p.Val1706Glu) c.1717-16913T>A (n.1717-16913T>A) c.3104T>A (p.Val1035Glu) c.2654T>A (p.Val885Glu) c.1862T>A (p.Val621Glu)
8	g.60845316T>C	CA4760262	CHD7	c.5117T>C (p.Val1706Ala) c.1717-16913T>C (n.1717-16913T>C) c.3104T>C (p.Val1035Ala) c.2654T>C (p.Val885Ala) c.1862T>C (p.Val621Ala)	dbSNP ExAC gnomAD v2
8	g.60845316T>G	CA371320445	CHD7	c.5117T>G (p.Val1706Gly) c.1717-16913T>G (n.1717-16913T>G) c.3104T>G (p.Val1035Gly) c.2654T>G (p.Val885Gly) c.1862T>G (p.Val621Gly)
8	g.60845316T=	CA1788128711	CHD7	c.5117T= (p.Val1706=) c.1717-16913T= (n.1717-16913T=) c.3104T= (p.Val1035=) c.2654T= (p.Val885=) c.1862T= (p.Val621=)
8	g.60845317G>A	CA461104707	CHD7	c.5118G>A (p.Val1706=) c.1717-16912G>A (n.1717-16912G>A) c.3105G>A (p.Val1035=) c.2655G>A (p.Val885=) c.1863G>A (p.Val621=)
8	g.60845317G>C	CA461104708	CHD7	c.5118G>C (p.Val1706=) c.1717-16912G>C (n.1717-16912G>C) c.3105G>C (p.Val1035=) c.2655G>C (p.Val885=) c.1863G>C (p.Val621=)
8	g.60845317G>T	CA461104709	CHD7	c.5118G>T (p.Val1706=) c.1717-16912G>T (n.1717-16912G>T) c.3105G>T (p.Val1035=) c.2655G>T (p.Val885=) c.1863G>T (p.Val621=)
8	g.60845318G>A	CA371320446	CHD7	c.5119G>A (p.Val1707Met) c.1717-16911G>A (n.1717-16911G>A) c.3106G>A (p.Val1036Met) c.2656G>A (p.Val886Met) c.1864G>A (p.Val622Met)	gnomAD v4
8	g.60845318G>C	CA371320449	CHD7	c.5119G>C (p.Val1707Leu) c.1717-16911G>C (n.1717-16911G>C) c.3106G>C (p.Val1036Leu) c.2656G>C (p.Val886Leu) c.1864G>C (p.Val622Leu)
8	g.60845318G>T	CA371320448	CHD7	c.5119G>T (p.Val1707Leu) c.1717-16911G>T (n.1717-16911G>T) c.3106G>T (p.Val1036Leu) c.2656G>T (p.Val886Leu) c.1864G>T (p.Val622Leu)
8	g.60845319T>A	CA371320451	CHD7	c.5120T>A (p.Val1707Glu) c.1717-16910T>A (n.1717-16910T>A) c.3107T>A (p.Val1036Glu) c.2657T>A (p.Val886Glu) c.1865T>A (p.Val622Glu)
8	g.60845319T>C	CA371320453	CHD7	c.5120T>C (p.Val1707Ala) c.1717-16910T>C (n.1717-16910T>C) c.3107T>C (p.Val1036Ala) c.2657T>C (p.Val886Ala) c.1865T>C (p.Val622Ala)	gnomAD v4
8	g.60845319T>G	CA371320454	CHD7	c.5120T>G (p.Val1707Gly) c.1717-16910T>G (n.1717-16910T>G) c.3107T>G (p.Val1036Gly) c.2657T>G (p.Val886Gly) c.1865T>G (p.Val622Gly)
8	g.60845320G>A	CA461104714	CHD7	c.5121G>A (p.Val1707=) c.1717-16909G>A (n.1717-16909G>A) c.3108G>A (p.Val1036=) c.2658G>A (p.Val886=) c.1866G>A (p.Val622=)	gnomAD v4
8	g.60845320G>C	CA461104716	CHD7	c.5121G>C (p.Val1707=) c.1717-16909G>C (n.1717-16909G>C) c.3108G>C (p.Val1036=) c.2658G>C (p.Val886=) c.1866G>C (p.Val622=)
8	g.60845320G>T	CA461104717	CHD7	c.5121G>T (p.Val1707=) c.1717-16909G>T (n.1717-16909G>T) c.3108G>T (p.Val1036=) c.2658G>T (p.Val886=) c.1866G>T (p.Val622=)
8	g.60845321C>A	CA371320456	CHD7	c.5122C>A (p.Gln1708Lys) c.1717-16908C>A (n.1717-16908C>A) c.3109C>A (p.Gln1037Lys) c.2659C>A (p.Gln887Lys) c.1867C>A (p.Gln623Lys)	gnomAD v4
8	g.60845321C>G	CA371320458	CHD7	c.5122C>G (p.Gln1708Glu) c.1717-16908C>G (n.1717-16908C>G) c.3109C>G (p.Gln1037Glu) c.2659C>G (p.Gln887Glu) c.1867C>G (p.Gln623Glu)
8	g.60845321C>T	CA371320459	CHD7	c.5122C>T (p.Gln1708Ter) c.1717-16908C>T (n.1717-16908C>T) c.3109C>T (p.Gln1037Ter) c.2659C>T (p.Gln887Ter) c.1867C>T (p.Gln623Ter)
8	g.60845322A=	CA1788128718	CHD7	c.5123A= (p.Gln1708=) c.1717-16907A= (n.1717-16907A=) c.3110A= (p.Gln1037=) c.2660A= (p.Gln887=) c.1868A= (p.Gln623=)
8	g.60845322A>C	CA371320461	CHD7	c.5123A>C (p.Gln1708Pro) c.1717-16907A>C (n.1717-16907A>C) c.3110A>C (p.Gln1037Pro) c.2660A>C (p.Gln887Pro) c.1868A>C (p.Gln623Pro)
8	g.60845322A>G	CA371320462	CHD7	c.5123A>G (p.Gln1708Arg) c.1717-16907A>G (n.1717-16907A>G) c.3110A>G (p.Gln1037Arg) c.2660A>G (p.Gln887Arg) c.1868A>G (p.Gln623Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60845322A>T	CA371320463	CHD7	c.5123A>T (p.Gln1708Leu) c.1717-16907A>T (n.1717-16907A>T) c.3110A>T (p.Gln1037Leu) c.2660A>T (p.Gln887Leu) c.1868A>T (p.Gln623Leu)
8	g.60845323G>A	CA461104719	CHD7	c.5124G>A (p.Gln1708=) c.1717-16906G>A (n.1717-16906G>A) c.3111G>A (p.Gln1037=) c.2661G>A (p.Gln887=) c.1869G>A (p.Gln623=)
8	g.60845323G>C	CA371320465	CHD7	c.5124G>C (p.Gln1708His) c.1717-16906G>C (n.1717-16906G>C) c.3111G>C (p.Gln1037His) c.2661G>C (p.Gln887His) c.1869G>C (p.Gln623His)	ClinVar
8	g.60845323G>T	CA371320466	CHD7	c.5124G>T (p.Gln1708His) c.1717-16906G>T (n.1717-16906G>T) c.3111G>T (p.Gln1037His) c.2661G>T (p.Gln887His) c.1869G>T (p.Gln623His)	COSMIC
8	g.60845324G>A	CA371320469	CHD7	c.5125G>A (p.Asp1709Asn) c.1717-16905G>A (n.1717-16905G>A) c.3112G>A (p.Asp1038Asn) c.2662G>A (p.Asp888Asn) c.1870G>A (p.Asp624Asn)	ClinVar dbSNP
8	g.60845324G>C	CA371320470	CHD7	c.5125G>C (p.Asp1709His) c.1717-16905G>C (n.1717-16905G>C) c.3112G>C (p.Asp1038His) c.2662G>C (p.Asp888His) c.1870G>C (p.Asp624His)
8	g.60845324G>T	CA371320468	CHD7	c.5125G>T (p.Asp1709Tyr) c.1717-16905G>T (n.1717-16905G>T) c.3112G>T (p.Asp1038Tyr) c.2662G>T (p.Asp888Tyr) c.1870G>T (p.Asp624Tyr)
8	g.60845325A=	CA1788128730	CHD7	c.5126A= (p.Asp1709=) c.1717-16904A= (n.1717-16904A=) c.3113A= (p.Asp1038=) c.2663A= (p.Asp888=) c.1871A= (p.Asp624=)
8	g.60845325A>C	CA371320471	CHD7	c.5126A>C (p.Asp1709Ala) c.1717-16904A>C (n.1717-16904A>C) c.3113A>C (p.Asp1038Ala) c.2663A>C (p.Asp888Ala) c.1871A>C (p.Asp624Ala)
8	g.60845325A>G	CA371320473	CHD7	c.5126A>G (p.Asp1709Gly) c.1717-16904A>G (n.1717-16904A>G) c.3113A>G (p.Asp1038Gly) c.2663A>G (p.Asp888Gly) c.1871A>G (p.Asp624Gly)
8	g.60845325A>T	CA4760263	CHD7	c.5126A>T (p.Asp1709Val) c.1717-16904A>T (n.1717-16904A>T) c.3113A>T (p.Asp1038Val) c.2663A>T (p.Asp888Val) c.1871A>T (p.Asp624Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845326T>A	CA371320474	CHD7	c.5127T>A (p.Asp1709Glu) c.1717-16903T>A (n.1717-16903T>A) c.3114T>A (p.Asp1038Glu) c.2664T>A (p.Asp888Glu) c.1872T>A (p.Asp624Glu)
8	g.60845326T>C	CA461104724	CHD7	c.5127T>C (p.Asp1709=) c.1717-16903T>C (n.1717-16903T>C) c.3114T>C (p.Asp1038=) c.2664T>C (p.Asp888=) c.1872T>C (p.Asp624=)
8	g.60845326T>G	CA371320476	CHD7	c.5127T>G (p.Asp1709Glu) c.1717-16903T>G (n.1717-16903T>G) c.3114T>G (p.Asp1038Glu) c.2664T>G (p.Asp888Glu) c.1872T>G (p.Asp624Glu)
8	g.60845327G>A	CA371320477	CHD7	c.5128G>A (p.Ala1710Thr) c.1717-16902G>A (n.1717-16902G>A) c.3115G>A (p.Ala1039Thr) c.2665G>A (p.Ala889Thr) c.1873G>A (p.Ala625Thr)	gnomAD v4
8	g.60845327G>C	CA371320479	CHD7	c.5128G>C (p.Ala1710Pro) c.1717-16902G>C (n.1717-16902G>C) c.3115G>C (p.Ala1039Pro) c.2665G>C (p.Ala889Pro) c.1873G>C (p.Ala625Pro)
8	g.60845327G>T	CA371320480	CHD7	c.5128G>T (p.Ala1710Ser) c.1717-16902G>T (n.1717-16902G>T) c.3115G>T (p.Ala1039Ser) c.2665G>T (p.Ala889Ser) c.1873G>T (p.Ala625Ser)
8	g.60845328C>A	CA371320483	CHD7	c.5129C>A (p.Ala1710Asp) c.1717-16901C>A (n.1717-16901C>A) c.3116C>A (p.Ala1039Asp) c.2666C>A (p.Ala889Asp) c.1874C>A (p.Ala625Asp)
8	g.60845328C=	CA1788128741	CHD7	c.5129C= (p.Ala1710=) c.1717-16901C= (n.1717-16901C=) c.3116C= (p.Ala1039=) c.2666C= (p.Ala889=) c.1874C= (p.Ala625=)
8	g.60845328C>G	CA371320485	CHD7	c.5129C>G (p.Ala1710Gly) c.1717-16901C>G (n.1717-16901C>G) c.3116C>G (p.Ala1039Gly) c.2666C>G (p.Ala889Gly) c.1874C>G (p.Ala625Gly)
8	g.60845328C>T	CA4760264	CHD7	c.5129C>T (p.Ala1710Val) c.1717-16901C>T (n.1717-16901C>T) c.3116C>T (p.Ala1039Val) c.2666C>T (p.Ala889Val) c.1874C>T (p.Ala625Val)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845329C>A	CA461104729	CHD7	c.5130C>A (p.Ala1710=) c.1717-16900C>A (n.1717-16900C>A) c.3117C>A (p.Ala1039=) c.2667C>A (p.Ala889=) c.1875C>A (p.Ala625=)
8	g.60845329C=	CA1788128749	CHD7	c.5130C= (p.Ala1710=) c.1717-16900C= (n.1717-16900C=) c.3117C= (p.Ala1039=) c.2667C= (p.Ala889=) c.1875C= (p.Ala625=)
8	g.60845329C>G	CA461104730	CHD7	c.5130C>G (p.Ala1710=) c.1717-16900C>G (n.1717-16900C>G) c.3117C>G (p.Ala1039=) c.2667C>G (p.Ala889=) c.1875C>G (p.Ala625=)
8	g.60845329C>T	CA177351256	CHD7	c.5130C>T (p.Ala1710=) c.1717-16900C>T (n.1717-16900C>T) c.3117C>T (p.Ala1039=) c.2667C>T (p.Ala889=) c.1875C>T (p.Ala625=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845330G>A	CA4760266	CHD7	c.5131G>A (p.Asp1711Asn) c.1717-16899G>A (n.1717-16899G>A) c.3118G>A (p.Asp1040Asn) c.2668G>A (p.Asp890Asn) c.1876G>A (p.Asp626Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845330G>C	CA4760265	CHD7	c.5131G>C (p.Asp1711His) c.1717-16899G>C (n.1717-16899G>C) c.3118G>C (p.Asp1040His) c.2668G>C (p.Asp890His) c.1876G>C (p.Asp626His)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845330G=	CA1788128795	CHD7	c.5131G= (p.Asp1711=) c.1717-16899G= (n.1717-16899G=) c.3118G= (p.Asp1040=) c.2668G= (p.Asp890=) c.1876G= (p.Asp626=)
8	g.60845330G>T	CA371320488	CHD7	c.5131G>T (p.Asp1711Tyr) c.1717-16899G>T (n.1717-16899G>T) c.3118G>T (p.Asp1040Tyr) c.2668G>T (p.Asp890Tyr) c.1876G>T (p.Asp626Tyr)
8	g.60845331A>C	CA371320489	CHD7	c.5132A>C (p.Asp1711Ala) c.1717-16898A>C (n.1717-16898A>C) c.3119A>C (p.Asp1040Ala) c.2669A>C (p.Asp890Ala) c.1877A>C (p.Asp626Ala)
8	g.60845331A>G	CA371320490	CHD7	c.5132A>G (p.Asp1711Gly) c.1717-16898A>G (n.1717-16898A>G) c.3119A>G (p.Asp1040Gly) c.2669A>G (p.Asp890Gly) c.1877A>G (p.Asp626Gly)
8	g.60845331A>T	CA371320491	CHD7	c.5132A>T (p.Asp1711Val) c.1717-16898A>T (n.1717-16898A>T) c.3119A>T (p.Asp1040Val) c.2669A>T (p.Asp890Val) c.1877A>T (p.Asp626Val)
8	g.60845332C>A	CA4760267	CHD7	c.5133C>A (p.Asp1711Glu) c.1717-16897C>A (n.1717-16897C>A) c.3120C>A (p.Asp1040Glu) c.2670C>A (p.Asp890Glu) c.1878C>A (p.Asp626Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845332C=	CA1788128819	CHD7	c.5133C= (p.Asp1711=) c.1717-16897C= (n.1717-16897C=) c.3120C= (p.Asp1040=) c.2670C= (p.Asp890=) c.1878C= (p.Asp626=)
8	g.60845332C>G	CA371320493	CHD7	c.5133C>G (p.Asp1711Glu) c.1717-16897C>G (n.1717-16897C>G) c.3120C>G (p.Asp1040Glu) c.2670C>G (p.Asp890Glu) c.1878C>G (p.Asp626Glu)	dbSNP gnomAD v2 gnomAD v4
8	g.60845332C>T	CA461104734	CHD7	c.5133C>T (p.Asp1711=) c.1717-16897C>T (n.1717-16897C>T) c.3120C>T (p.Asp1040=) c.2670C>T (p.Asp890=) c.1878C>T (p.Asp626=)
8	g.60845337_60845340del	CA2695209720	CHD7	c.5138_5141del (p.Leu1713ProfsTer18) c.1717-16892_1717-16889del (n.1717-16892_1717-16889del) c.3125_3128del (p.Leu1042ProfsTer18) c.2675_2678del (p.Leu892ProfsTer18) c.1883_1886del (p.Leu628ProfsTer18)
8	g.60845333T>A	CA371320495	CHD7	c.5134T>A (p.Trp1712Arg) c.1717-16896T>A (n.1717-16896T>A) c.3121T>A (p.Trp1041Arg) c.2671T>A (p.Trp891Arg) c.1879T>A (p.Trp627Arg)
8	g.60845333T>C	CA371320496	CHD7	c.5134T>C (p.Trp1712Arg) c.1717-16896T>C (n.1717-16896T>C) c.3121T>C (p.Trp1041Arg) c.2671T>C (p.Trp891Arg) c.1879T>C (p.Trp627Arg)
8	g.60845333T>G	CA371320498	CHD7	c.5134T>G (p.Trp1712Gly) c.1717-16896T>G (n.1717-16896T>G) c.3121T>G (p.Trp1041Gly) c.2671T>G (p.Trp891Gly) c.1879T>G (p.Trp627Gly)
8	g.60845334G>A	CA371320500	CHD7	c.5135G>A (p.Trp1712Ter) c.1717-16895G>A (n.1717-16895G>A) c.3122G>A (p.Trp1041Ter) c.2672G>A (p.Trp891Ter) c.1880G>A (p.Trp627Ter)
8	g.60845334G>C	CA371320506	CHD7	c.5135G>C (p.Trp1712Ser) c.1717-16895G>C (n.1717-16895G>C) c.3122G>C (p.Trp1041Ser) c.2672G>C (p.Trp891Ser) c.1880G>C (p.Trp627Ser)
8	g.60845334G>T	CA371320507	CHD7	c.5135G>T (p.Trp1712Leu) c.1717-16895G>T (n.1717-16895G>T) c.3122G>T (p.Trp1041Leu) c.2672G>T (p.Trp891Leu) c.1880G>T (p.Trp627Leu)
8	g.60845335G>A	CA371320509	CHD7	c.5136G>A (p.Trp1712Ter) c.1717-16894G>A (n.1717-16894G>A) c.3123G>A (p.Trp1041Ter) c.2673G>A (p.Trp891Ter) c.1881G>A (p.Trp627Ter)
8	g.60845335G>C	CA371320511	CHD7	c.5136G>C (p.Trp1712Cys) c.1717-16894G>C (n.1717-16894G>C) c.3123G>C (p.Trp1041Cys) c.2673G>C (p.Trp891Cys) c.1881G>C (p.Trp627Cys)	ClinVar
8	g.60845335G>T	CA371320513	CHD7	c.5136G>T (p.Trp1712Cys) c.1717-16894G>T (n.1717-16894G>T) c.3123G>T (p.Trp1041Cys) c.2673G>T (p.Trp891Cys) c.1881G>T (p.Trp627Cys)
8	g.60845336_60845337insCAGC	CA2695209721	CHD7	c.5137_5138insCAGC (p.Leu1713ProfsTer25) c.1717-16893_1717-16892insCAGC (n.1717-16893_1717-16892insCAGC) c.3124_3125insCAGC (p.Leu1042ProfsTer25) c.2674_2675insCAGC (p.Leu892ProfsTer25) c.1882_1883insCAGC (p.Leu628ProfsTer25)
8	g.60845336C>A	CA371320515	CHD7	c.5137C>A (p.Leu1713Met) c.1717-16893C>A (n.1717-16893C>A) c.3124C>A (p.Leu1042Met) c.2674C>A (p.Leu892Met) c.1882C>A (p.Leu628Met)
8	g.60845336C>G	CA371320516	CHD7	c.5137C>G (p.Leu1713Val) c.1717-16893C>G (n.1717-16893C>G) c.3124C>G (p.Leu1042Val) c.2674C>G (p.Leu892Val) c.1882C>G (p.Leu628Val)
8	g.60845336C>T	CA461104740	CHD7	c.5137C>T (p.Leu1713=) c.1717-16893C>T (n.1717-16893C>T) c.3124C>T (p.Leu1042=) c.2674C>T (p.Leu892=) c.1882C>T (p.Leu628=)	gnomAD v4
8	g.60845337T>A	CA371320518	CHD7	c.5138T>A (p.Leu1713Gln) c.1717-16892T>A (n.1717-16892T>A) c.3125T>A (p.Leu1042Gln) c.2675T>A (p.Leu892Gln) c.1883T>A (p.Leu628Gln)
8	g.60845337T>C	CA371320520	CHD7	c.5138T>C (p.Leu1713Pro) c.1717-16892T>C (n.1717-16892T>C) c.3125T>C (p.Leu1042Pro) c.2675T>C (p.Leu892Pro) c.1883T>C (p.Leu628Pro)
8	g.60845337T>G	CA371320517	CHD7	c.5138T>G (p.Leu1713Arg) c.1717-16892T>G (n.1717-16892T>G) c.3125T>G (p.Leu1042Arg) c.2675T>G (p.Leu892Arg) c.1883T>G (p.Leu628Arg)
8	g.60845338G>A	CA461104747	CHD7	c.5139G>A (p.Leu1713=) c.1717-16891G>A (n.1717-16891G>A) c.3126G>A (p.Leu1042=) c.2676G>A (p.Leu892=) c.1884G>A (p.Leu628=)
8	g.60845338G>C	CA461104748	CHD7	c.5139G>C (p.Leu1713=) c.1717-16891G>C (n.1717-16891G>C) c.3126G>C (p.Leu1042=) c.2676G>C (p.Leu892=) c.1884G>C (p.Leu628=)
8	g.60845338G>T	CA461104749	CHD7	c.5139G>T (p.Leu1713=) c.1717-16891G>T (n.1717-16891G>T) c.3126G>T (p.Leu1042=) c.2676G>T (p.Leu892=) c.1884G>T (p.Leu628=)
8	g.60845339G>A	CA4760268	CHD7	c.5140G>A (p.Ala1714Thr) c.1717-16890G>A (n.1717-16890G>A) c.3127G>A (p.Ala1043Thr) c.2677G>A (p.Ala893Thr) c.1885G>A (p.Ala629Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845339G>C	CA371320524	CHD7	c.5140G>C (p.Ala1714Pro) c.1717-16890G>C (n.1717-16890G>C) c.3127G>C (p.Ala1043Pro) c.2677G>C (p.Ala893Pro) c.1885G>C (p.Ala629Pro)
8	g.60845339G=	CA1788128832	CHD7	c.5140G= (p.Ala1714=) c.1717-16890G= (n.1717-16890G=) c.3127G= (p.Ala1043=) c.2677G= (p.Ala893=) c.1885G= (p.Ala629=)
8	g.60845339G>T	CA371320525	CHD7	c.5140G>T (p.Ala1714Ser) c.1717-16890G>T (n.1717-16890G>T) c.3127G>T (p.Ala1043Ser) c.2677G>T (p.Ala893Ser) c.1885G>T (p.Ala629Ser)
8	g.60845340C>A	CA371320527	CHD7	c.5141C>A (p.Ala1714Asp) c.1717-16889C>A (n.1717-16889C>A) c.3128C>A (p.Ala1043Asp) c.2678C>A (p.Ala893Asp) c.1886C>A (p.Ala629Asp)
8	g.60845340C=	CA1788128836	CHD7	c.5141C= (p.Ala1714=) c.1717-16889C= (n.1717-16889C=) c.3128C= (p.Ala1043=) c.2678C= (p.Ala893=) c.1886C= (p.Ala629=)
8	g.60845340C>G	CA371320529	CHD7	c.5141C>G (p.Ala1714Gly) c.1717-16889C>G (n.1717-16889C>G) c.3128C>G (p.Ala1043Gly) c.2678C>G (p.Ala893Gly) c.1886C>G (p.Ala629Gly)	dbSNP gnomAD v4
8	g.60845340C>T	CA371320530	CHD7	c.5141C>T (p.Ala1714Val) c.1717-16889C>T (n.1717-16889C>T) c.3128C>T (p.Ala1043Val) c.2678C>T (p.Ala893Val) c.1886C>T (p.Ala629Val)
8	g.60845341C>A	CA461104750	CHD7	c.5142C>A (p.Ala1714=) c.1717-16888C>A (n.1717-16888C>A) c.3129C>A (p.Ala1043=) c.2679C>A (p.Ala893=) c.1887C>A (p.Ala629=)
8	g.60845341C>G	CA461104751	CHD7	c.5142C>G (p.Ala1714=) c.1717-16888C>G (n.1717-16888C>G) c.3129C>G (p.Ala1043=) c.2679C>G (p.Ala893=) c.1887C>G (p.Ala629=)
8	g.60845341C>T	CA461104752	CHD7	c.5142C>T (p.Ala1714=) c.1717-16888C>T (n.1717-16888C>T) c.3129C>T (p.Ala1043=) c.2679C>T (p.Ala893=) c.1887C>T (p.Ala629=)
8	g.60845342A=	CA1788128844	CHD7	c.5143A= (p.Ser1715=) c.1717-16887A= (n.1717-16887A=) c.3130A= (p.Ser1044=) c.2680A= (p.Ser894=) c.1888A= (p.Ser630=)
8	g.60845342A>C	CA371320531	CHD7	c.5143A>C (p.Ser1715Arg) c.1717-16887A>C (n.1717-16887A>C) c.3130A>C (p.Ser1044Arg) c.2680A>C (p.Ser894Arg) c.1888A>C (p.Ser630Arg)	dbSNP
8	g.60845342A>G	CA371320533	CHD7	c.5143A>G (p.Ser1715Gly) c.1717-16887A>G (n.1717-16887A>G) c.3130A>G (p.Ser1044Gly) c.2680A>G (p.Ser894Gly) c.1888A>G (p.Ser630Gly)
8	g.60845342A>T	CA371320536	CHD7	c.5143A>T (p.Ser1715Cys) c.1717-16887A>T (n.1717-16887A>T) c.3130A>T (p.Ser1044Cys) c.2680A>T (p.Ser894Cys) c.1888A>T (p.Ser630Cys)	gnomAD v4
8	g.60845343G>A	CA371320537	CHD7	c.5144G>A (p.Ser1715Asn) c.1717-16886G>A (n.1717-16886G>A) c.3131G>A (p.Ser1044Asn) c.2681G>A (p.Ser894Asn) c.1889G>A (p.Ser630Asn)
8	g.60845343G>C	CA371320539	CHD7	c.5144G>C (p.Ser1715Thr) c.1717-16886G>C (n.1717-16886G>C) c.3131G>C (p.Ser1044Thr) c.2681G>C (p.Ser894Thr) c.1889G>C (p.Ser630Thr)
8	g.60845343G>T	CA371320541	CHD7	c.5144G>T (p.Ser1715Ile) c.1717-16886G>T (n.1717-16886G>T) c.3131G>T (p.Ser1044Ile) c.2681G>T (p.Ser894Ile) c.1889G>T (p.Ser630Ile)
8	g.60845344C>A	CA371320546	CHD7	c.5145C>A (p.Ser1715Arg) c.1717-16885C>A (n.1717-16885C>A) c.3132C>A (p.Ser1044Arg) c.2682C>A (p.Ser894Arg) c.1890C>A (p.Ser630Arg)
8	g.60845344C>G	CA371320544	CHD7	c.5145C>G (p.Ser1715Arg) c.1717-16885C>G (n.1717-16885C>G) c.3132C>G (p.Ser1044Arg) c.2682C>G (p.Ser894Arg) c.1890C>G (p.Ser630Arg)
8	g.60845344C>T	CA461104759	CHD7	c.5145C>T (p.Ser1715=) c.1717-16885C>T (n.1717-16885C>T) c.3132C>T (p.Ser1044=) c.2682C>T (p.Ser894=) c.1890C>T (p.Ser630=)
8	g.60845345T>A	CA371320547	CHD7	c.5146T>A (p.Cys1716Ser) c.1717-16884T>A (n.1717-16884T>A) c.3133T>A (p.Cys1045Ser) c.2683T>A (p.Cys895Ser) c.1891T>A (p.Cys631Ser)
8	g.60845345T>C	CA371320549	CHD7	c.5146T>C (p.Cys1716Arg) c.1717-16884T>C (n.1717-16884T>C) c.3133T>C (p.Cys1045Arg) c.2683T>C (p.Cys895Arg) c.1891T>C (p.Cys631Arg)
8	g.60845345T>G	CA371320550	CHD7	c.5146T>G (p.Cys1716Gly) c.1717-16884T>G (n.1717-16884T>G) c.3133T>G (p.Cys1045Gly) c.2683T>G (p.Cys895Gly) c.1891T>G (p.Cys631Gly)
8	g.60845346G>A	CA371320552	CHD7	c.5147G>A (p.Cys1716Tyr) c.1717-16883G>A (n.1717-16883G>A) c.3134G>A (p.Cys1045Tyr) c.2684G>A (p.Cys895Tyr) c.1892G>A (p.Cys631Tyr)
8	g.60845346G>C	CA371320553	CHD7	c.5147G>C (p.Cys1716Ser) c.1717-16883G>C (n.1717-16883G>C) c.3134G>C (p.Cys1045Ser) c.2684G>C (p.Cys895Ser) c.1892G>C (p.Cys631Ser)
8	g.60845346G>T	CA371320554	CHD7	c.5147G>T (p.Cys1716Phe) c.1717-16883G>T (n.1717-16883G>T) c.3134G>T (p.Cys1045Phe) c.2684G>T (p.Cys895Phe) c.1892G>T (p.Cys631Phe)
8	g.60845347C>A	CA371320555	CHD7	c.5148C>A (p.Cys1716Ter) c.1717-16882C>A (n.1717-16882C>A) c.3135C>A (p.Cys1045Ter) c.2685C>A (p.Cys895Ter) c.1893C>A (p.Cys631Ter)
8	g.60845347C=	CA1788128846	CHD7	c.5148C= (p.Cys1716=) c.1717-16882C= (n.1717-16882C=) c.3135C= (p.Cys1045=) c.2685C= (p.Cys895=) c.1893C= (p.Cys631=)
8	g.60845347C>G	CA371320556	CHD7	c.5148C>G (p.Cys1716Trp) c.1717-16882C>G (n.1717-16882C>G) c.3135C>G (p.Cys1045Trp) c.2685C>G (p.Cys895Trp) c.1893C>G (p.Cys631Trp)
8	g.60845347C>T	CA177351270	CHD7	c.5148C>T (p.Cys1716=) c.1717-16882C>T (n.1717-16882C>T) c.3135C>T (p.Cys1045=) c.2685C>T (p.Cys895=) c.1893C>T (p.Cys631=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845348A=	CA1788128855	CHD7	c.5149A= (p.Asn1717=) c.1717-16881A= (n.1717-16881A=) c.3136A= (p.Asn1046=) c.2686A= (p.Asn896=) c.1894A= (p.Asn632=)
8	g.60845348A>C	CA371320557	CHD7	c.5149A>C (p.Asn1717His) c.1717-16881A>C (n.1717-16881A>C) c.3136A>C (p.Asn1046His) c.2686A>C (p.Asn896His) c.1894A>C (p.Asn632His)
8	g.60845348A>G	CA371320558	CHD7	c.5149A>G (p.Asn1717Asp) c.1717-16881A>G (n.1717-16881A>G) c.3136A>G (p.Asn1046Asp) c.2686A>G (p.Asn896Asp) c.1894A>G (p.Asn632Asp)
8	g.60845348A>T	CA371320560	CHD7	c.5149A>T (p.Asn1717Tyr) c.1717-16881A>T (n.1717-16881A>T) c.3136A>T (p.Asn1046Tyr) c.2686A>T (p.Asn896Tyr) c.1894A>T (p.Asn632Tyr)	dbSNP
8	g.60845349A>C	CA371320562	CHD7	c.5150A>C (p.Asn1717Thr) c.1717-16880A>C (n.1717-16880A>C) c.3137A>C (p.Asn1046Thr) c.2687A>C (p.Asn896Thr) c.1895A>C (p.Asn632Thr)
8	g.60845349A>G	CA371320563	CHD7	c.5150A>G (p.Asn1717Ser) c.1717-16880A>G (n.1717-16880A>G) c.3137A>G (p.Asn1046Ser) c.2687A>G (p.Asn896Ser) c.1895A>G (p.Asn632Ser)
8	g.60845349A>T	CA371320564	CHD7	c.5150A>T (p.Asn1717Ile) c.1717-16880A>T (n.1717-16880A>T) c.3137A>T (p.Asn1046Ile) c.2687A>T (p.Asn896Ile) c.1895A>T (p.Asn632Ile)	gnomAD v4
8	g.60845350C>A	CA371320566	CHD7	c.5151C>A (p.Asn1717Lys) c.1717-16879C>A (n.1717-16879C>A) c.3138C>A (p.Asn1046Lys) c.2688C>A (p.Asn896Lys) c.1896C>A (p.Asn632Lys)
8	g.60845350C>G	CA371320568	CHD7	c.5151C>G (p.Asn1717Lys) c.1717-16879C>G (n.1717-16879C>G) c.3138C>G (p.Asn1046Lys) c.2688C>G (p.Asn896Lys) c.1896C>G (p.Asn632Lys)
8	g.60845350C>T	CA461104765	CHD7	c.5151C>T (p.Asn1717=) c.1717-16879C>T (n.1717-16879C>T) c.3138C>T (p.Asn1046=) c.2688C>T (p.Asn896=) c.1896C>T (p.Asn632=)	gnomAD v4
8	g.60845351C>A	CA371320569	CHD7	c.5152C>A (p.Pro1718Thr) c.1717-16878C>A (n.1717-16878C>A) c.3139C>A (p.Pro1047Thr) c.2689C>A (p.Pro897Thr) c.1897C>A (p.Pro633Thr)
8	g.60845351C>G	CA371320572	CHD7	c.5152C>G (p.Pro1718Ala) c.1717-16878C>G (n.1717-16878C>G) c.3139C>G (p.Pro1047Ala) c.2689C>G (p.Pro897Ala) c.1897C>G (p.Pro633Ala)
8	g.60845351C>T	CA371320571	CHD7	c.5152C>T (p.Pro1718Ser) c.1717-16878C>T (n.1717-16878C>T) c.3139C>T (p.Pro1047Ser) c.2689C>T (p.Pro897Ser) c.1897C>T (p.Pro633Ser)
8	g.60845352C>A	CA371320574	CHD7	c.5153C>A (p.Pro1718Gln) c.1717-16877C>A (n.1717-16877C>A) c.3140C>A (p.Pro1047Gln) c.2690C>A (p.Pro897Gln) c.1898C>A (p.Pro633Gln)
8	g.60845352C>G	CA371320576	CHD7	c.5153C>G (p.Pro1718Arg) c.1717-16877C>G (n.1717-16877C>G) c.3140C>G (p.Pro1047Arg) c.2690C>G (p.Pro897Arg) c.1898C>G (p.Pro633Arg)
8	g.60845352C>T	CA371320577	CHD7	c.5153C>T (p.Pro1718Leu) c.1717-16877C>T (n.1717-16877C>T) c.3140C>T (p.Pro1047Leu) c.2690C>T (p.Pro897Leu) c.1898C>T (p.Pro633Leu)
8	g.60845353A=	CA1788128869	CHD7	c.5154A= (p.Pro1718=) c.1717-16876A= (n.1717-16876A=) c.3141A= (p.Pro1047=) c.2691A= (p.Pro897=) c.1899A= (p.Pro633=)
8	g.60845353A>C	CA177351271	CHD7	c.5154A>C (p.Pro1718=) c.1717-16876A>C (n.1717-16876A>C) c.3141A>C (p.Pro1047=) c.2691A>C (p.Pro897=) c.1899A>C (p.Pro633=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845353A>G	CA461104770	CHD7	c.5154A>G (p.Pro1718=) c.1717-16876A>G (n.1717-16876A>G) c.3141A>G (p.Pro1047=) c.2691A>G (p.Pro897=) c.1899A>G (p.Pro633=)
8	g.60845353A>T	CA461104772	CHD7	c.5154A>T (p.Pro1718=) c.1717-16876A>T (n.1717-16876A>T) c.3141A>T (p.Pro1047=) c.2691A>T (p.Pro897=) c.1899A>T (p.Pro633=)
8	g.60845354G>A	CA371320579	CHD7	c.5155G>A (p.Asp1719Asn) c.1717-16875G>A (n.1717-16875G>A) c.3142G>A (p.Asp1048Asn) c.2692G>A (p.Asp898Asn) c.1900G>A (p.Asp634Asn)
8	g.60845354G>C	CA371320580	CHD7	c.5155G>C (p.Asp1719His) c.1717-16875G>C (n.1717-16875G>C) c.3142G>C (p.Asp1048His) c.2692G>C (p.Asp898His) c.1900G>C (p.Asp634His)	gnomAD v4
8	g.60845354G=	CA1788128873	CHD7	c.5155G= (p.Asp1719=) c.1717-16875G= (n.1717-16875G=) c.3142G= (p.Asp1048=) c.2692G= (p.Asp898=) c.1900G= (p.Asp634=)
8	g.60845354G>T	CA371320582	CHD7	c.5155G>T (p.Asp1719Tyr) c.1717-16875G>T (n.1717-16875G>T) c.3142G>T (p.Asp1048Tyr) c.2692G>T (p.Asp898Tyr) c.1900G>T (p.Asp634Tyr)
8	g.60845354_60845355insT	CA177351274	CHD7	c.5155_5156insT (p.Asp1719ValfsTer18) c.1717-16875_1717-16874insT (n.1717-16875_1717-16874insT) c.3142_3143insT (p.Asp1048ValfsTer18) c.2692_2693insT (p.Asp898ValfsTer18) c.1900_1901insT (p.Asp634ValfsTer18)	dbSNP
8	g.60845355A>C	CA371320584	CHD7	c.5156A>C (p.Asp1719Ala) c.1717-16874A>C (n.1717-16874A>C) c.3143A>C (p.Asp1048Ala) c.2693A>C (p.Asp898Ala) c.1901A>C (p.Asp634Ala)
8	g.60845355A>G	CA371320586	CHD7	c.5156A>G (p.Asp1719Gly) c.1717-16874A>G (n.1717-16874A>G) c.3143A>G (p.Asp1048Gly) c.2693A>G (p.Asp898Gly) c.1901A>G (p.Asp634Gly)	gnomAD v4
8	g.60845355A>T	CA371320588	CHD7	c.5156A>T (p.Asp1719Val) c.1717-16874A>T (n.1717-16874A>T) c.3143A>T (p.Asp1048Val) c.2693A>T (p.Asp898Val) c.1901A>T (p.Asp634Val)
8	g.60845356T>A	CA371320589	CHD7	c.5157T>A (p.Asp1719Glu) c.1717-16873T>A (n.1717-16873T>A) c.3144T>A (p.Asp1048Glu) c.2694T>A (p.Asp898Glu) c.1902T>A (p.Asp634Glu)
8	g.60845356T>C	CA461104776	CHD7	c.5157T>C (p.Asp1719=) c.1717-16873T>C (n.1717-16873T>C) c.3144T>C (p.Asp1048=) c.2694T>C (p.Asp898=) c.1902T>C (p.Asp634=)
8	g.60845356T>G	CA371320591	CHD7	c.5157T>G (p.Asp1719Glu) c.1717-16873T>G (n.1717-16873T>G) c.3144T>G (p.Asp1048Glu) c.2694T>G (p.Asp898Glu) c.1902T>G (p.Asp634Glu)
8	g.60845357G>A	CA371320592	CHD7	c.5158G>A (p.Ala1720Thr) c.1717-16872G>A (n.1717-16872G>A) c.3145G>A (p.Ala1049Thr) c.2695G>A (p.Ala899Thr) c.1903G>A (p.Ala635Thr)
8	g.60845357G>C	CA371320595	CHD7	c.5158G>C (p.Ala1720Pro) c.1717-16872G>C (n.1717-16872G>C) c.3145G>C (p.Ala1049Pro) c.2695G>C (p.Ala899Pro) c.1903G>C (p.Ala635Pro)
8	g.60845357G>T	CA371320594	CHD7	c.5158G>T (p.Ala1720Ser) c.1717-16872G>T (n.1717-16872G>T) c.3145G>T (p.Ala1049Ser) c.2695G>T (p.Ala899Ser) c.1903G>T (p.Ala635Ser)	gnomAD v4
8	g.60845358C>A	CA371320597	CHD7	c.5159C>A (p.Ala1720Asp) c.1717-16871C>A (n.1717-16871C>A) c.3146C>A (p.Ala1049Asp) c.2696C>A (p.Ala899Asp) c.1904C>A (p.Ala635Asp)
8	g.60845358C=	CA1788128881	CHD7	c.5159C= (p.Ala1720=) c.1717-16871C= (n.1717-16871C=) c.3146C= (p.Ala1049=) c.2696C= (p.Ala899=) c.1904C= (p.Ala635=)
8	g.60845358C>G	CA371320599	CHD7	c.5159C>G (p.Ala1720Gly) c.1717-16871C>G (n.1717-16871C>G) c.3146C>G (p.Ala1049Gly) c.2696C>G (p.Ala899Gly) c.1904C>G (p.Ala635Gly)	dbSNP gnomAD v2
8	g.60845358C>T	CA371320601	CHD7	c.5159C>T (p.Ala1720Val) c.1717-16871C>T (n.1717-16871C>T) c.3146C>T (p.Ala1049Val) c.2696C>T (p.Ala899Val) c.1904C>T (p.Ala635Val)	gnomAD v4
8	g.60845359C>A	CA461104781	CHD7	c.5160C>A (p.Ala1720=) c.1717-16870C>A (n.1717-16870C>A) c.3147C>A (p.Ala1049=) c.2697C>A (p.Ala899=) c.1905C>A (p.Ala635=)
8	g.60845359C=	CA1788128885	CHD7	c.5160C= (p.Ala1720=) c.1717-16870C= (n.1717-16870C=) c.3147C= (p.Ala1049=) c.2697C= (p.Ala899=) c.1905C= (p.Ala635=)
8	g.60845359C>G	CA461104782	CHD7	c.5160C>G (p.Ala1720=) c.1717-16870C>G (n.1717-16870C>G) c.3147C>G (p.Ala1049=) c.2697C>G (p.Ala899=) c.1905C>G (p.Ala635=)
8	g.60845359C>T	CA4760269	CHD7	c.5160C>T (p.Ala1720=) c.1717-16870C>T (n.1717-16870C>T) c.3147C>T (p.Ala1049=) c.2697C>T (p.Ala899=) c.1905C>T (p.Ala635=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845360C>A	CA371320603	CHD7	c.5161C>A (p.Leu1721Met) c.1717-16869C>A (n.1717-16869C>A) c.3148C>A (p.Leu1050Met) c.2698C>A (p.Leu900Met) c.1906C>A (p.Leu636Met)
8	g.60845360C>G	CA371320605	CHD7	c.5161C>G (p.Leu1721Val) c.1717-16869C>G (n.1717-16869C>G) c.3148C>G (p.Leu1050Val) c.2698C>G (p.Leu900Val) c.1906C>G (p.Leu636Val)
8	g.60845360C>T	CA461104783	CHD7	c.5161C>T (p.Leu1721=) c.1717-16869C>T (n.1717-16869C>T) c.3148C>T (p.Leu1050=) c.2698C>T (p.Leu900=) c.1906C>T (p.Leu636=)
8	g.60845361T>A	CA371320607	CHD7	c.5162T>A (p.Leu1721Gln) c.1717-16868T>A (n.1717-16868T>A) c.3149T>A (p.Leu1050Gln) c.2699T>A (p.Leu900Gln) c.1907T>A (p.Leu636Gln)
8	g.60845361T>C	CA371320608	CHD7	c.5162T>C (p.Leu1721Pro) c.1717-16868T>C (n.1717-16868T>C) c.3149T>C (p.Leu1050Pro) c.2699T>C (p.Leu900Pro) c.1907T>C (p.Leu636Pro)
8	g.60845361T>G	CA371320609	CHD7	c.5162T>G (p.Leu1721Arg) c.1717-16868T>G (n.1717-16868T>G) c.3149T>G (p.Leu1050Arg) c.2699T>G (p.Leu900Arg) c.1907T>G (p.Leu636Arg)
8	g.60845362G>A	CA461104785	CHD7	c.5163G>A (p.Leu1721=) c.1717-16867G>A (n.1717-16867G>A) c.3150G>A (p.Leu1050=) c.2700G>A (p.Leu900=) c.1908G>A (p.Leu636=)
8	g.60845362G>C	CA461104786	CHD7	c.5163G>C (p.Leu1721=) c.1717-16867G>C (n.1717-16867G>C) c.3150G>C (p.Leu1050=) c.2700G>C (p.Leu900=) c.1908G>C (p.Leu636=)	gnomAD v4
8	g.60845362G>T	CA461104787	CHD7	c.5163G>T (p.Leu1721=) c.1717-16867G>T (n.1717-16867G>T) c.3150G>T (p.Leu1050=) c.2700G>T (p.Leu900=) c.1908G>T (p.Leu636=)
8	g.60845363T>A	CA371320612	CHD7	c.5164T>A (p.Phe1722Ile) c.1717-16866T>A (n.1717-16866T>A) c.3151T>A (p.Phe1051Ile) c.2701T>A (p.Phe901Ile) c.1909T>A (p.Phe637Ile)
8	g.60845363T>C	CA371320613	CHD7	c.5164T>C (p.Phe1722Leu) c.1717-16866T>C (n.1717-16866T>C) c.3151T>C (p.Phe1051Leu) c.2701T>C (p.Phe901Leu) c.1909T>C (p.Phe637Leu)	dbSNP
8	g.60845363T>G	CA371320611	CHD7	c.5164T>G (p.Phe1722Val) c.1717-16866T>G (n.1717-16866T>G) c.3151T>G (p.Phe1051Val) c.2701T>G (p.Phe901Val) c.1909T>G (p.Phe637Val)
8	g.60845363T=	CA1788128891	CHD7	c.5164T= (p.Phe1722=) c.1717-16866T= (n.1717-16866T=) c.3151T= (p.Phe1051=) c.2701T= (p.Phe901=) c.1909T= (p.Phe637=)
8	g.60845363_60845370del	CA2695209722	CHD7	c.5164_5171del (p.Phe1722GlyfsTer12) c.1717-16866_1717-16859del (n.1717-16866_1717-16859del) c.3151_3158del (p.Phe1051GlyfsTer12) c.2701_2708del (p.Phe901GlyfsTer12) c.1909_1916del (p.Phe637GlyfsTer12)
8	g.60845363_60845364insC	CA2695209724	CHD7	c.5164_5165insC (p.Phe1722SerfsTer15) c.1717-16866_1717-16865insC (n.1717-16866_1717-16865insC) c.3151_3152insC (p.Phe1051SerfsTer15) c.2701_2702insC (p.Phe901SerfsTer15) c.1909_1910insC (p.Phe637SerfsTer15)
8	g.60845364T>A	CA371320615	CHD7	c.5165T>A (p.Phe1722Tyr) c.1717-16865T>A (n.1717-16865T>A) c.3152T>A (p.Phe1051Tyr) c.2702T>A (p.Phe901Tyr) c.1910T>A (p.Phe637Tyr)
8	g.60845364T>C	CA371320617	CHD7	c.5165T>C (p.Phe1722Ser) c.1717-16865T>C (n.1717-16865T>C) c.3152T>C (p.Phe1051Ser) c.2702T>C (p.Phe901Ser) c.1910T>C (p.Phe637Ser)
8	g.60845364T>G	CA371320618	CHD7	c.5165T>G (p.Phe1722Cys) c.1717-16865T>G (n.1717-16865T>G) c.3152T>G (p.Phe1051Cys) c.2702T>G (p.Phe901Cys) c.1910T>G (p.Phe637Cys)
8	g.60845364T=	CA1788128896	CHD7	c.5165T= (p.Phe1722=) c.1717-16865T= (n.1717-16865T=) c.3152T= (p.Phe1051=) c.2702T= (p.Phe901=) c.1910T= (p.Phe637=)
8	g.60845365C>A	CA371320620	CHD7	c.5166C>A (p.Phe1722Leu) c.1717-16864C>A (n.1717-16864C>A) c.3153C>A (p.Phe1051Leu) c.2703C>A (p.Phe901Leu) c.1911C>A (p.Phe637Leu)
8	g.60845365C=	CA1788128902	CHD7	c.5166C= (p.Phe1722=) c.1717-16864C= (n.1717-16864C=) c.3153C= (p.Phe1051=) c.2703C= (p.Phe901=) c.1911C= (p.Phe637=)
8	g.60845365C>G	CA371320625	CHD7	c.5166C>G (p.Phe1722Leu) c.1717-16864C>G (n.1717-16864C>G) c.3153C>G (p.Phe1051Leu) c.2703C>G (p.Phe901Leu) c.1911C>G (p.Phe637Leu)	gnomAD v4
8	g.60845365C>T	CA177351280	CHD7	c.5166C>T (p.Phe1722=) c.1717-16864C>T (n.1717-16864C>T) c.3153C>T (p.Phe1051=) c.2703C>T (p.Phe901=) c.1911C>T (p.Phe637=)	ClinVar dbSNP gnomAD v4
8	g.60845366dup	CA204789	CHD7	c.5167dup (p.Gln1723ProfsTer14) c.1717-16863dup (n.1717-16863dup) c.3154dup (p.Gln1052ProfsTer14) c.2704dup (p.Gln902ProfsTer14) c.1912dup (p.Gln638ProfsTer14)	ClinVar dbSNP
8	g.60845366del	CA2573143275	CHD7	c.5167del (p.Gln1723ArgfsTer9) c.1717-16863del (n.1717-16863del) c.3154del (p.Gln1052ArgfsTer9) c.2704del (p.Gln902ArgfsTer9) c.1912del (p.Gln638ArgfsTer9)	ClinVar dbSNP gnomAD v4
8	g.60845366C>A	CA371320627	CHD7	c.5167C>A (p.Gln1723Lys) c.1717-16863C>A (n.1717-16863C>A) c.3154C>A (p.Gln1052Lys) c.2704C>A (p.Gln902Lys) c.1912C>A (p.Gln638Lys)
8	g.60845366C>G	CA371320629	CHD7	c.5167C>G (p.Gln1723Glu) c.1717-16863C>G (n.1717-16863C>G) c.3154C>G (p.Gln1052Glu) c.2704C>G (p.Gln902Glu) c.1912C>G (p.Gln638Glu)
8	g.60845366C>T	CA371320630	CHD7	c.5167C>T (p.Gln1723Ter) c.1717-16863C>T (n.1717-16863C>T) c.3154C>T (p.Gln1052Ter) c.2704C>T (p.Gln902Ter) c.1912C>T (p.Gln638Ter)
8	g.60845367A>C	CA371320631	CHD7	c.5168A>C (p.Gln1723Pro) c.1717-16862A>C (n.1717-16862A>C) c.3155A>C (p.Gln1052Pro) c.2705A>C (p.Gln902Pro) c.1913A>C (p.Gln638Pro)
8	g.60845367A>G	CA371320633	CHD7	c.5168A>G (p.Gln1723Arg) c.1717-16862A>G (n.1717-16862A>G) c.3155A>G (p.Gln1052Arg) c.2705A>G (p.Gln902Arg) c.1913A>G (p.Gln638Arg)	gnomAD v4
8	g.60845367A>T	CA371320634	CHD7	c.5168A>T (p.Gln1723Leu) c.1717-16862A>T (n.1717-16862A>T) c.3155A>T (p.Gln1052Leu) c.2705A>T (p.Gln902Leu) c.1913A>T (p.Gln638Leu)
8	g.60845368G>A	CA461104795	CHD7	c.5169G>A (p.Gln1723=) c.1717-16861G>A (n.1717-16861G>A) c.3156G>A (p.Gln1052=) c.2706G>A (p.Gln902=) c.1914G>A (p.Gln638=)
8	g.60845368G>C	CA371320636	CHD7	c.5169G>C (p.Gln1723His) c.1717-16861G>C (n.1717-16861G>C) c.3156G>C (p.Gln1052His) c.2706G>C (p.Gln902His) c.1914G>C (p.Gln638His)
8	g.60845368G>T	CA371320637	CHD7	c.5169G>T (p.Gln1723His) c.1717-16861G>T (n.1717-16861G>T) c.3156G>T (p.Gln1052His) c.2706G>T (p.Gln902His) c.1914G>T (p.Gln638His)
8	g.60845369G>A	CA371320641	CHD7	c.5170G>A (p.Glu1724Lys) c.1717-16860G>A (n.1717-16860G>A) c.3157G>A (p.Glu1053Lys) c.2707G>A (p.Glu903Lys) c.1915G>A (p.Glu639Lys)
8	g.60845369G>C	CA4760270	CHD7	c.5170G>C (p.Glu1724Gln) c.1717-16860G>C (n.1717-16860G>C) c.3157G>C (p.Glu1053Gln) c.2707G>C (p.Glu903Gln) c.1915G>C (p.Glu639Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845369G=	CA1788128906	CHD7	c.5170G= (p.Glu1724=) c.1717-16860G= (n.1717-16860G=) c.3157G= (p.Glu1053=) c.2707G= (p.Glu903=) c.1915G= (p.Glu639=)
8	g.60845369G>T	CA371320639	CHD7	c.5170G>T (p.Glu1724Ter) c.1717-16860G>T (n.1717-16860G>T) c.3157G>T (p.Glu1053Ter) c.2707G>T (p.Glu903Ter) c.1915G>T (p.Glu639Ter)
8	g.60845370A>C	CA371320643	CHD7	c.5171A>C (p.Glu1724Ala) c.1717-16859A>C (n.1717-16859A>C) c.3158A>C (p.Glu1053Ala) c.2708A>C (p.Glu903Ala) c.1916A>C (p.Glu639Ala)
8	g.60845370A>G	CA371320644	CHD7	c.5171A>G (p.Glu1724Gly) c.1717-16859A>G (n.1717-16859A>G) c.3158A>G (p.Glu1053Gly) c.2708A>G (p.Glu903Gly) c.1916A>G (p.Glu639Gly)
8	g.60845370A>T	CA371320646	CHD7	c.5171A>T (p.Glu1724Val) c.1717-16859A>T (n.1717-16859A>T) c.3158A>T (p.Glu1053Val) c.2708A>T (p.Glu903Val) c.1916A>T (p.Glu639Val)
8	g.60845371G>A	CA461104796	CHD7	c.5172G>A (p.Glu1724=) c.1717-16858G>A (n.1717-16858G>A) c.3159G>A (p.Glu1053=) c.2709G>A (p.Glu903=) c.1917G>A (p.Glu639=)	ClinVar dbSNP
8	g.60845371G>C	CA371320648	CHD7	c.5172G>C (p.Glu1724Asp) c.1717-16858G>C (n.1717-16858G>C) c.3159G>C (p.Glu1053Asp) c.2709G>C (p.Glu903Asp) c.1917G>C (p.Glu639Asp)
8	g.60845371G=	CA1788128912	CHD7	c.5172G= (p.Glu1724=) c.1717-16858G= (n.1717-16858G=) c.3159G= (p.Glu1053=) c.2709G= (p.Glu903=) c.1917G= (p.Glu639=)
8	g.60845371G>T	CA371320649	CHD7	c.5172G>T (p.Glu1724Asp) c.1717-16858G>T (n.1717-16858G>T) c.3159G>T (p.Glu1053Asp) c.2709G>T (p.Glu903Asp) c.1917G>T (p.Glu639Asp)	gnomAD v4
8	g.60845372G>A	CA371320651	CHD7	c.5173G>A (p.Asp1725Asn) c.1717-16857G>A (n.1717-16857G>A) c.3160G>A (p.Asp1054Asn) c.2710G>A (p.Asp904Asn) c.1918G>A (p.Asp640Asn)
8	g.60845372G>C	CA371320653	CHD7	c.5173G>C (p.Asp1725His) c.1717-16857G>C (n.1717-16857G>C) c.3160G>C (p.Asp1054His) c.2710G>C (p.Asp904His) c.1918G>C (p.Asp640His)
8	g.60845372G=	CA1788128943	CHD7	c.5173G= (p.Asp1725=) c.1717-16857G= (n.1717-16857G=) c.3160G= (p.Asp1054=) c.2710G= (p.Asp904=) c.1918G= (p.Asp640=)
8	g.60845372G>T	CA177351285	CHD7	c.5173G>T (p.Asp1725Tyr) c.1717-16857G>T (n.1717-16857G>T) c.3160G>T (p.Asp1054Tyr) c.2710G>T (p.Asp904Tyr) c.1918G>T (p.Asp640Tyr)	dbSNP
8	g.60845373A>C	CA371320655	CHD7	c.5174A>C (p.Asp1725Ala) c.1717-16856A>C (n.1717-16856A>C) c.3161A>C (p.Asp1054Ala) c.2711A>C (p.Asp904Ala) c.1919A>C (p.Asp640Ala)
8	g.60845373A>G	CA371320656	CHD7	c.5174A>G (p.Asp1725Gly) c.1717-16856A>G (n.1717-16856A>G) c.3161A>G (p.Asp1054Gly) c.2711A>G (p.Asp904Gly) c.1919A>G (p.Asp640Gly)
8	g.60845373A>T	CA371320657	CHD7	c.5174A>T (p.Asp1725Val) c.1717-16856A>T (n.1717-16856A>T) c.3161A>T (p.Asp1054Val) c.2711A>T (p.Asp904Val) c.1919A>T (p.Asp640Val)
8	g.60845374C>A	CA371320658	CHD7	c.5175C>A (p.Asp1725Glu) c.1717-16855C>A (n.1717-16855C>A) c.3162C>A (p.Asp1054Glu) c.2712C>A (p.Asp904Glu) c.1920C>A (p.Asp640Glu)
8	g.60845374C>G	CA371320659	CHD7	c.5175C>G (p.Asp1725Glu) c.1717-16855C>G (n.1717-16855C>G) c.3162C>G (p.Asp1054Glu) c.2712C>G (p.Asp904Glu) c.1920C>G (p.Asp640Glu)
8	g.60845374C>T	CA461104798	CHD7	c.5175C>T (p.Asp1725=) c.1717-16855C>T (n.1717-16855C>T) c.3162C>T (p.Asp1054=) c.2712C>T (p.Asp904=) c.1920C>T (p.Asp640=)
8	g.60845375A>C	CA371320661	CHD7	c.5176A>C (p.Ser1726Arg) c.1717-16854A>C (n.1717-16854A>C) c.3163A>C (p.Ser1055Arg) c.2713A>C (p.Ser905Arg) c.1921A>C (p.Ser641Arg)
8	g.60845375A>G	CA371320662	CHD7	c.5176A>G (p.Ser1726Gly) c.1717-16854A>G (n.1717-16854A>G) c.3163A>G (p.Ser1055Gly) c.2713A>G (p.Ser905Gly) c.1921A>G (p.Ser641Gly)	COSMIC
8	g.60845375A>T	CA371320660	CHD7	c.5176A>T (p.Ser1726Cys) c.1717-16854A>T (n.1717-16854A>T) c.3163A>T (p.Ser1055Cys) c.2713A>T (p.Ser905Cys) c.1921A>T (p.Ser641Cys)
8	g.60845375_60845389delinsAGCTACAAGAAACAC	CA1788128946	CHD7	c.5176_5190delinsAGCTACAAGAAACAC (p.Ser1726=) c.1717-16854_1717-16840delinsAGCTACAAGAAACAC (n.1717-16854_1717-16840delinsAGCTACAAGAAACAC) c.3163_3177delinsAGCTACAAGAAACAC (p.Ser1055=) c.2713_2727delinsAGCTACAAGAAACAC (p.Ser905=) c.1921_1935delinsAGCTACAAGAAACAC (p.Ser641=)
8	g.60845376G>A	CA371320664	CHD7	c.5177G>A (p.Ser1726Asn) c.1717-16853G>A (n.1717-16853G>A) c.3164G>A (p.Ser1055Asn) c.2714G>A (p.Ser905Asn) c.1922G>A (p.Ser641Asn)
8	g.60845376G>C	CA371320663	CHD7	c.5177G>C (p.Ser1726Thr) c.1717-16853G>C (n.1717-16853G>C) c.3164G>C (p.Ser1055Thr) c.2714G>C (p.Ser905Thr) c.1922G>C (p.Ser641Thr)
8	g.60845376G>T	CA371320665	CHD7	c.5177G>T (p.Ser1726Ile) c.1717-16853G>T (n.1717-16853G>T) c.3164G>T (p.Ser1055Ile) c.2714G>T (p.Ser905Ile) c.1922G>T (p.Ser641Ile)
8	g.60845376_60845389delinsT	CA16042755	CHD7	c.5177_5190delinsT (p.Ser1726IlefsTer2) c.1717-16853_1717-16840delinsT (n.1717-16853_1717-16840delinsT) c.3164_3177delinsT (p.Ser1055IlefsTer2) c.2714_2727delinsT (p.Ser905IlefsTer2) c.1922_1935delinsT (p.Ser641IlefsTer2)	ClinVar dbSNP
8	g.60845377C>A	CA371320666	CHD7	c.5178C>A (p.Ser1726Arg) c.1717-16852C>A (n.1717-16852C>A) c.3165C>A (p.Ser1055Arg) c.2715C>A (p.Ser905Arg) c.1923C>A (p.Ser641Arg)
8	g.60845377C>G	CA371320667	CHD7	c.5178C>G (p.Ser1726Arg) c.1717-16852C>G (n.1717-16852C>G) c.3165C>G (p.Ser1055Arg) c.2715C>G (p.Ser905Arg) c.1923C>G (p.Ser641Arg)
8	g.60845377C>T	CA461104803	CHD7	c.5178C>T (p.Ser1726=) c.1717-16852C>T (n.1717-16852C>T) c.3165C>T (p.Ser1055=) c.2715C>T (p.Ser905=) c.1923C>T (p.Ser641=)
8	g.60845377_60845378dup	CA2695209726	CHD7	c.5178_5179dup (p.Tyr1727SerfsTer6) c.1717-16852_1717-16851dup (n.1717-16852_1717-16851dup) c.3165_3166dup (p.Tyr1056SerfsTer6) c.2715_2716dup (p.Tyr906SerfsTer6) c.1923_1924dup (p.Tyr642SerfsTer6)
8	g.60845378T>A	CA371320668	CHD7	c.5179T>A (p.Tyr1727Asn) c.1717-16851T>A (n.1717-16851T>A) c.3166T>A (p.Tyr1056Asn) c.2716T>A (p.Tyr906Asn) c.1924T>A (p.Tyr642Asn)
8	g.60845378T>C	CA371320669	CHD7	c.5179T>C (p.Tyr1727His) c.1717-16851T>C (n.1717-16851T>C) c.3166T>C (p.Tyr1056His) c.2716T>C (p.Tyr906His) c.1924T>C (p.Tyr642His)	gnomAD v4
8	g.60845378T>G	CA371320670	CHD7	c.5179T>G (p.Tyr1727Asp) c.1717-16851T>G (n.1717-16851T>G) c.3166T>G (p.Tyr1056Asp) c.2716T>G (p.Tyr906Asp) c.1924T>G (p.Tyr642Asp)
8	g.60845379A>C	CA371320671	CHD7	c.5180A>C (p.Tyr1727Ser) c.1717-16850A>C (n.1717-16850A>C) c.3167A>C (p.Tyr1056Ser) c.2717A>C (p.Tyr906Ser) c.1925A>C (p.Tyr642Ser)
8	g.60845379A>G	CA371320672	CHD7	c.5180A>G (p.Tyr1727Cys) c.1717-16850A>G (n.1717-16850A>G) c.3167A>G (p.Tyr1056Cys) c.2717A>G (p.Tyr906Cys) c.1925A>G (p.Tyr642Cys)
8	g.60845379A>T	CA371320673	CHD7	c.5180A>T (p.Tyr1727Phe) c.1717-16850A>T (n.1717-16850A>T) c.3167A>T (p.Tyr1056Phe) c.2717A>T (p.Tyr906Phe) c.1925A>T (p.Tyr642Phe)
8	g.60845380C>A	CA371320674	CHD7	c.5181C>A (p.Tyr1727Ter) c.1717-16849C>A (n.1717-16849C>A) c.3168C>A (p.Tyr1056Ter) c.2718C>A (p.Tyr906Ter) c.1926C>A (p.Tyr642Ter)
8	g.60845380C=	CA1788128958	CHD7	c.5181C= (p.Tyr1727=) c.1717-16849C= (n.1717-16849C=) c.3168C= (p.Tyr1056=) c.2718C= (p.Tyr906=) c.1926C= (p.Tyr642=)
8	g.60845380C>G	CA223306	CHD7	c.5181C>G (p.Tyr1727Ter) c.1717-16849C>G (n.1717-16849C>G) c.3168C>G (p.Tyr1056Ter) c.2718C>G (p.Tyr906Ter) c.1926C>G (p.Tyr642Ter)	ClinVar dbSNP
8	g.60845380C>T	CA4760271	CHD7	c.5181C>T (p.Tyr1727=) c.1717-16849C>T (n.1717-16849C>T) c.3168C>T (p.Tyr1056=) c.2718C>T (p.Tyr906=) c.1926C>T (p.Tyr642=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845381A>C	CA371320675	CHD7	c.5182A>C (p.Lys1728Gln) c.1717-16848A>C (n.1717-16848A>C) c.3169A>C (p.Lys1057Gln) c.2719A>C (p.Lys907Gln) c.1927A>C (p.Lys643Gln)
8	g.60845381A>G	CA371320676	CHD7	c.5182A>G (p.Lys1728Glu) c.1717-16848A>G (n.1717-16848A>G) c.3169A>G (p.Lys1057Glu) c.2719A>G (p.Lys907Glu) c.1927A>G (p.Lys643Glu)
8	g.60845381A>T	CA371320677	CHD7	c.5182A>T (p.Lys1728Ter) c.1717-16848A>T (n.1717-16848A>T) c.3169A>T (p.Lys1057Ter) c.2719A>T (p.Lys907Ter) c.1927A>T (p.Lys643Ter)
8	g.60845382A=	CA1788128964	CHD7	c.5183A= (p.Lys1728=) c.1717-16847A= (n.1717-16847A=) c.3170A= (p.Lys1057=) c.2720A= (p.Lys907=) c.1928A= (p.Lys643=)
8	g.60845382A>C	CA371320678	CHD7	c.5183A>C (p.Lys1728Thr) c.1717-16847A>C (n.1717-16847A>C) c.3170A>C (p.Lys1057Thr) c.2720A>C (p.Lys907Thr) c.1928A>C (p.Lys643Thr)
8	g.60845382A>G	CA4760272	CHD7	c.5183A>G (p.Lys1728Arg) c.1717-16847A>G (n.1717-16847A>G) c.3170A>G (p.Lys1057Arg) c.2720A>G (p.Lys907Arg) c.1928A>G (p.Lys643Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845382A>T	CA371320679	CHD7	c.5183A>T (p.Lys1728Met) c.1717-16847A>T (n.1717-16847A>T) c.3170A>T (p.Lys1057Met) c.2720A>T (p.Lys907Met) c.1928A>T (p.Lys643Met)
8	g.60845383G>A	CA461104810	CHD7	c.5184G>A (p.Lys1728=) c.1717-16846G>A (n.1717-16846G>A) c.3171G>A (p.Lys1057=) c.2721G>A (p.Lys907=) c.1929G>A (p.Lys643=)	gnomAD v4
8	g.60845383G>C	CA371320680	CHD7	c.5184G>C (p.Lys1728Asn) c.1717-16846G>C (n.1717-16846G>C) c.3171G>C (p.Lys1057Asn) c.2721G>C (p.Lys907Asn) c.1929G>C (p.Lys643Asn)
8	g.60845383G>T	CA371320681	CHD7	c.5184G>T (p.Lys1728Asn) c.1717-16846G>T (n.1717-16846G>T) c.3171G>T (p.Lys1057Asn) c.2721G>T (p.Lys907Asn) c.1929G>T (p.Lys643Asn)
8	g.60845384A>C	CA371320682	CHD7	c.5185A>C (p.Lys1729Gln) c.1717-16845A>C (n.1717-16845A>C) c.3172A>C (p.Lys1058Gln) c.2722A>C (p.Lys908Gln) c.1930A>C (p.Lys644Gln)
8	g.60845384A>G	CA371320683	CHD7	c.5185A>G (p.Lys1729Glu) c.1717-16845A>G (n.1717-16845A>G) c.3172A>G (p.Lys1058Glu) c.2722A>G (p.Lys908Glu) c.1930A>G (p.Lys644Glu)
8	g.60845384A>T	CA371320684	CHD7	c.5185A>T (p.Lys1729Ter) c.1717-16845A>T (n.1717-16845A>T) c.3172A>T (p.Lys1058Ter) c.2722A>T (p.Lys908Ter) c.1930A>T (p.Lys644Ter)
8	g.60845385A>C	CA371320685	CHD7	c.5186A>C (p.Lys1729Thr) c.1717-16844A>C (n.1717-16844A>C) c.3173A>C (p.Lys1058Thr) c.2723A>C (p.Lys908Thr) c.1931A>C (p.Lys644Thr)
8	g.60845385A>G	CA371320686	CHD7	c.5186A>G (p.Lys1729Arg) c.1717-16844A>G (n.1717-16844A>G) c.3173A>G (p.Lys1058Arg) c.2723A>G (p.Lys908Arg) c.1931A>G (p.Lys644Arg)
8	g.60845385A>T	CA371320687	CHD7	c.5186A>T (p.Lys1729Ile) c.1717-16844A>T (n.1717-16844A>T) c.3173A>T (p.Lys1058Ile) c.2723A>T (p.Lys908Ile) c.1931A>T (p.Lys644Ile)
8	g.60845386A=	CA1788128968	CHD7	c.5187A= (p.Lys1729=) c.1717-16843A= (n.1717-16843A=) c.3174A= (p.Lys1058=) c.2724A= (p.Lys908=) c.1932A= (p.Lys644=)
8	g.60845386A>C	CA371320688	CHD7	c.5187A>C (p.Lys1729Asn) c.1717-16843A>C (n.1717-16843A>C) c.3174A>C (p.Lys1058Asn) c.2724A>C (p.Lys908Asn) c.1932A>C (p.Lys644Asn)
8	g.60845386A>G	CA461104814	CHD7	c.5187A>G (p.Lys1729=) c.1717-16843A>G (n.1717-16843A>G) c.3174A>G (p.Lys1058=) c.2724A>G (p.Lys908=) c.1932A>G (p.Lys644=)	ClinVar dbSNP
8	g.60845386A>T	CA371320689	CHD7	c.5187A>T (p.Lys1729Asn) c.1717-16843A>T (n.1717-16843A>T) c.3174A>T (p.Lys1058Asn) c.2724A>T (p.Lys908Asn) c.1932A>T (p.Lys644Asn)
8	g.60845387C>A	CA371320691	CHD7	c.5188C>A (p.His1730Asn) c.1717-16842C>A (n.1717-16842C>A) c.3175C>A (p.His1059Asn) c.2725C>A (p.His909Asn) c.1933C>A (p.His645Asn)
8	g.60845387C>G	CA371320692	CHD7	c.5188C>G (p.His1730Asp) c.1717-16842C>G (n.1717-16842C>G) c.3175C>G (p.His1059Asp) c.2725C>G (p.His909Asp) c.1933C>G (p.His645Asp)
8	g.60845387C>T	CA371320690	CHD7	c.5188C>T (p.His1730Tyr) c.1717-16842C>T (n.1717-16842C>T) c.3175C>T (p.His1059Tyr) c.2725C>T (p.His909Tyr) c.1933C>T (p.His645Tyr)
8	g.60845388A>C	CA371320693	CHD7	c.5189A>C (p.His1730Pro) c.1717-16841A>C (n.1717-16841A>C) c.3176A>C (p.His1059Pro) c.2726A>C (p.His909Pro) c.1934A>C (p.His645Pro)
8	g.60845388A>G	CA371320694	CHD7	c.5189A>G (p.His1730Arg) c.1717-16841A>G (n.1717-16841A>G) c.3176A>G (p.His1059Arg) c.2726A>G (p.His909Arg) c.1934A>G (p.His645Arg)	gnomAD v4
8	g.60845388A>T	CA371320695	CHD7	c.5189A>T (p.His1730Leu) c.1717-16841A>T (n.1717-16841A>T) c.3176A>T (p.His1059Leu) c.2726A>T (p.His909Leu) c.1934A>T (p.His645Leu)
8	g.60845389C>A	CA371320696	CHD7	c.5190C>A (p.His1730Gln) c.1717-16840C>A (n.1717-16840C>A) c.3177C>A (p.His1059Gln) c.2727C>A (p.His909Gln) c.1935C>A (p.His645Gln)
8	g.60845389C=	CA1788128975	CHD7	c.5190C= (p.His1730=) c.1717-16840C= (n.1717-16840C=) c.3177C= (p.His1059=) c.2727C= (p.His909=) c.1935C= (p.His645=)
8	g.60845389C>G	CA371320697	CHD7	c.5190C>G (p.His1730Gln) c.1717-16840C>G (n.1717-16840C>G) c.3177C>G (p.His1059Gln) c.2727C>G (p.His909Gln) c.1935C>G (p.His645Gln)
8	g.60845389C>T	CA461104819	CHD7	c.5190C>T (p.His1730=) c.1717-16840C>T (n.1717-16840C>T) c.3177C>T (p.His1059=) c.2727C>T (p.His909=) c.1935C>T (p.His645=)	ClinVar dbSNP gnomAD v2 gnomAD v4
8	g.60845390C>A	CA371320699	CHD7	c.5191C>A (p.Leu1731Met) c.1717-16839C>A (n.1717-16839C>A) c.3178C>A (p.Leu1060Met) c.2728C>A (p.Leu910Met) c.1936C>A (p.Leu646Met)
8	g.60845390C=	CA1788128985	CHD7	c.5191C= (p.Leu1731=) c.1717-16839C= (n.1717-16839C=) c.3178C= (p.Leu1060=) c.2728C= (p.Leu910=) c.1936C= (p.Leu646=)
8	g.60845390C>G	CA371320698	CHD7	c.5191C>G (p.Leu1731Val) c.1717-16839C>G (n.1717-16839C>G) c.3178C>G (p.Leu1060Val) c.2728C>G (p.Leu910Val) c.1936C>G (p.Leu646Val)
8	g.60845390C>T	CA4760273	CHD7	c.5191C>T (p.Leu1731=) c.1717-16839C>T (n.1717-16839C>T) c.3178C>T (p.Leu1060=) c.2728C>T (p.Leu910=) c.1936C>T (p.Leu646=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8	g.60845391_60845396del	CA2511221192	CHD7	c.5192_5197del (p.Leu1731_Lys1732del) c.1717-16838_1717-16833del (n.1717-16838_1717-16833del) c.3179_3184del (p.Leu1060_Lys1061del) c.2729_2734del (p.Leu910_Lys911del) c.1937_1942del (p.Leu646_Lys647del)
8	g.60845391T>A	CA371320700	CHD7	c.5192T>A (p.Leu1731Gln) c.1717-16838T>A (n.1717-16838T>A) c.3179T>A (p.Leu1060Gln) c.2729T>A (p.Leu910Gln) c.1937T>A (p.Leu646Gln)
8	g.60845391T>C	CA371320701	CHD7	c.5192T>C (p.Leu1731Pro) c.1717-16838T>C (n.1717-16838T>C) c.3179T>C (p.Leu1060Pro) c.2729T>C (p.Leu910Pro) c.1937T>C (p.Leu646Pro)
8	g.60845391T>G	CA371320702	CHD7	c.5192T>G (p.Leu1731Arg) c.1717-16838T>G (n.1717-16838T>G) c.3179T>G (p.Leu1060Arg) c.2729T>G (p.Leu910Arg) c.1937T>G (p.Leu646Arg)
8	g.60845392G>A	CA461104824	CHD7	c.5193G>A (p.Leu1731=) c.1717-16837G>A (n.1717-16837G>A) c.3180G>A (p.Leu1060=) c.2730G>A (p.Leu910=) c.1938G>A (p.Leu646=)	dbSNP gnomAD v2 gnomAD v4
8	g.60845392G>C	CA461104825	CHD7	c.5193G>C (p.Leu1731=) c.1717-16837G>C (n.1717-16837G>C) c.3180G>C (p.Leu1060=) c.2730G>C (p.Leu910=) c.1938G>C (p.Leu646=)
8	g.60845392G=	CA1788128994	CHD7	c.5193G= (p.Leu1731=) c.1717-16837G= (n.1717-16837G=) c.3180G= (p.Leu1060=) c.2730G= (p.Leu910=) c.1938G= (p.Leu646=)
8	g.60845392G>T	CA461104826	CHD7	c.5193G>T (p.Leu1731=) c.1717-16837G>T (n.1717-16837G>T) c.3180G>T (p.Leu1060=) c.2730G>T (p.Leu910=) c.1938G>T (p.Leu646=)
8	g.60845393A>C	CA371320703	CHD7	c.5194A>C (p.Lys1732Gln) c.1717-16836A>C (n.1717-16836A>C) c.3181A>C (p.Lys1061Gln) c.2731A>C (p.Lys911Gln) c.1939A>C (p.Lys647Gln)
8	g.60845393A>G	CA371320704	CHD7	c.5194A>G (p.Lys1732Glu) c.1717-16836A>G (n.1717-16836A>G) c.3181A>G (p.Lys1061Glu) c.2731A>G (p.Lys911Glu) c.1939A>G (p.Lys647Glu)
8	g.60845393A>T	CA371320705	CHD7	c.5194A>T (p.Lys1732Ter) c.1717-16836A>T (n.1717-16836A>T) c.3181A>T (p.Lys1061Ter) c.2731A>T (p.Lys911Ter) c.1939A>T (p.Lys647Ter)
8	g.60845394A>C	CA371320706	CHD7	c.5195A>C (p.Lys1732Thr) c.1717-16835A>C (n.1717-16835A>C) c.3182A>C (p.Lys1061Thr) c.2732A>C (p.Lys911Thr) c.1940A>C (p.Lys647Thr)
8	g.60845394A>G	CA371320708	CHD7	c.5195A>G (p.Lys1732Arg) c.1717-16835A>G (n.1717-16835A>G) c.3182A>G (p.Lys1061Arg) c.2732A>G (p.Lys911Arg) c.1940A>G (p.Lys647Arg)
8	g.60845394A>T	CA371320707	CHD7	c.5195A>T (p.Lys1732Met) c.1717-16835A>T (n.1717-16835A>T) c.3182A>T (p.Lys1061Met) c.2732A>T (p.Lys911Met) c.1940A>T (p.Lys647Met)
8	g.60845395G>A	CA4760274	CHD7	c.5196G>A (p.Lys1732=) c.1717-16834G>A (n.1717-16834G>A) c.3183G>A (p.Lys1061=) c.2733G>A (p.Lys911=) c.1941G>A (p.Lys647=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.60845395G>C	CA371320709	CHD7	c.5196G>C (p.Lys1732Asn) c.1717-16834G>C (n.1717-16834G>C) c.3183G>C (p.Lys1061Asn) c.2733G>C (p.Lys911Asn) c.1941G>C (p.Lys647Asn)
8	g.60845395G=	CA1788129001	CHD7	c.5196G= (p.Lys1732=) c.1717-16834G= (n.1717-16834G=) c.3183G= (p.Lys1061=) c.2733G= (p.Lys911=) c.1941G= (p.Lys647=)
8	g.60845395G>T	CA371320710	CHD7	c.5196G>T (p.Lys1732Asn) c.1717-16834G>T (n.1717-16834G>T) c.3183G>T (p.Lys1061Asn) c.2733G>T (p.Lys911Asn) c.1941G>T (p.Lys647Asn)
8	g.60845396C>A	CA371320711	CHD7	c.5197C>A (p.His1733Asn) c.1717-16833C>A (n.1717-16833C>A) c.3184C>A (p.His1062Asn) c.2734C>A (p.His912Asn) c.1942C>A (p.His648Asn)
8	g.60845396C=	CA1788129020	CHD7	c.5197C= (p.His1733=) c.1717-16833C= (n.1717-16833C=) c.3184C= (p.His1062=) c.2734C= (p.His912=) c.1942C= (p.His648=)
8	g.60845396C>G	CA371320712	CHD7	c.5197C>G (p.His1733Asp) c.1717-16833C>G (n.1717-16833C>G) c.3184C>G (p.His1062Asp) c.2734C>G (p.His912Asp) c.1942C>G (p.His648Asp)
8	g.60845396C>T	CA371320713	CHD7	c.5197C>T (p.His1733Tyr) c.1717-16833C>T (n.1717-16833C>T) c.3184C>T (p.His1062Tyr) c.2734C>T (p.His912Tyr) c.1942C>T (p.His648Tyr)	dbSNP
8	g.60845397A=	CA1788129025	CHD7	c.5198A= (p.His1733=) c.1717-16832A= (n.1717-16832A=) c.3185A= (p.His1062=) c.2735A= (p.His912=) c.1943A= (p.His648=)
8	g.60845397A>C	CA371320714	CHD7	c.5198A>C (p.His1733Pro) c.1717-16832A>C (n.1717-16832A>C) c.3185A>C (p.His1062Pro) c.2735A>C (p.His912Pro) c.1943A>C (p.His648Pro)
8	g.60845397A>G	CA371320715	CHD7	c.5198A>G (p.His1733Arg) c.1717-16832A>G (n.1717-16832A>G) c.3185A>G (p.His1062Arg) c.2735A>G (p.His912Arg) c.1943A>G (p.His648Arg)	gnomAD v4
8	g.60845397A>T	CA371320716	CHD7	c.5198A>T (p.His1733Leu) c.1717-16832A>T (n.1717-16832A>T) c.3185A>T (p.His1062Leu) c.2735A>T (p.His912Leu) c.1943A>T (p.His648Leu)
8	g.60845398T>A	CA371320717	CHD7	c.5199T>A (p.His1733Gln) c.1717-16831T>A (n.1717-16831T>A) c.3186T>A (p.His1062Gln) c.2736T>A (p.His912Gln) c.1944T>A (p.His648Gln)
8	g.60845398T>C	CA461104831	CHD7	c.5199T>C (p.His1733=) c.1717-16831T>C (n.1717-16831T>C) c.3186T>C (p.His1062=) c.2736T>C (p.His912=) c.1944T>C (p.His648=)
8	g.60845398T>G	CA371320718	CHD7	c.5199T>G (p.His1733Gln) c.1717-16831T>G (n.1717-16831T>G) c.3186T>G (p.His1062Gln) c.2736T>G (p.His912Gln) c.1944T>G (p.His648Gln)
8	g.60845398dup	CA278982	CHD7	c.5199dup (p.His1734SerfsTer3) c.1717-16831dup (n.1717-16831dup) c.3186dup (p.His1063SerfsTer3) c.2736dup (p.His913SerfsTer3) c.1944dup (p.His649SerfsTer3)	ClinVar dbSNP
8	g.60845399C>A	CA371320721	CHD7	c.5200C>A (p.His1734Asn) c.1717-16830C>A (n.1717-16830C>A) c.3187C>A (p.His1063Asn) c.2737C>A (p.His913Asn) c.1945C>A (p.His649Asn)
8	g.60845399C=	CA1788129036	CHD7	c.5200C= (p.His1734=) c.1717-16830C= (n.1717-16830C=) c.3187C= (p.His1063=) c.2737C= (p.His913=) c.1945C= (p.His649=)
8	g.60845399C>G	CA371320720	CHD7	c.5200C>G (p.His1734Asp) c.1717-16830C>G (n.1717-16830C>G) c.3187C>G (p.His1063Asp) c.2737C>G (p.His913Asp) c.1945C>G (p.His649Asp)
8	g.60845399C>T	CA371320719	CHD7	c.5200C>T (p.His1734Tyr) c.1717-16830C>T (n.1717-16830C>T) c.3187C>T (p.His1063Tyr) c.2737C>T (p.His913Tyr) c.1945C>T (p.His649Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched