Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2046202_2046287del	CA2825002411	NTHL1	c.199_284del (p.Lys67GlufsTer13) c.154_239del (p.Lys52GlufsTer13) c.223_308del (p.Lys75GlufsTer13) c.119_204del c.162_247del c.170_173+82del c.21_24+82del	ClinVar
16	g.2046202T>A	CA394295729	NTHL1	c.280A>T (p.Met94Leu) c.235A>T (p.Met79Leu) c.304A>T (p.Met102Leu) c.200A>T n.13A>T c.243A>T c.173+78A>T c.24+78A>T (n.24+78A>T)
16	g.2046202T>C	CA394295734	NTHL1	c.280A>G (p.Met94Val) c.235A>G (p.Met79Val) c.304A>G (p.Met102Val) c.200A>G n.13A>G c.243A>G c.173+78A>G c.24+78A>G (n.24+78A>G)	ClinVar gnomAD v4
16	g.2046202T>G	CA276765616	NTHL1	c.280A>C (p.Met94Leu) c.235A>C (p.Met79Leu) c.304A>C (p.Met102Leu) c.200A>C n.13A>C c.243A>C c.173+78A>C c.24+78A>C (n.24+78A>C)	dbSNP
16	g.2046202T=	CA2201986668	NTHL1	c.280A= (p.Met94=) c.235A= (p.Met79=) c.304A= (p.Met102=) c.200A= n.13A= c.243A= c.173+78A= c.24+78A= (n.24+78A=)
16	g.2046203G>A	CA492953247	NTHL1	c.279C>T (p.Ala93=) c.234C>T (p.Ala78=) c.303C>T (p.Ala101=) c.199C>T n.12C>T c.242C>T c.173+77C>T c.24+77C>T (n.24+77C>T)
16	g.2046203G>C	CA492953248	NTHL1	c.279C>G (p.Ala93=) c.234C>G (p.Ala78=) c.303C>G (p.Ala101=) c.199C>G n.12C>G c.242C>G c.173+77C>G c.24+77C>G (n.24+77C>G)
16	g.2046203G>T	CA492953249	NTHL1	c.279C>A (p.Ala93=) c.234C>A (p.Ala78=) c.303C>A (p.Ala101=) c.199C>A n.12C>A c.242C>A c.173+77C>A c.24+77C>A (n.24+77C>A)
16	g.2046204G>A	CA394296784	NTHL1	c.278C>T (p.Ala93Val) c.233C>T (p.Ala78Val) c.302C>T (p.Ala101Val) c.198C>T n.11C>T c.241C>T c.173+76C>T c.24+76C>T (n.24+76C>T)	ClinVar dbSNP gnomAD v4
16	g.2046204G>C	CA394296754	NTHL1	c.278C>G (p.Ala93Gly) c.233C>G (p.Ala78Gly) c.302C>G (p.Ala101Gly) c.198C>G n.11C>G c.241C>G c.173+76C>G c.24+76C>G (n.24+76C>G)
16	g.2046204G>T	CA394296783	NTHL1	c.278C>A (p.Ala93Asp) c.233C>A (p.Ala78Asp) c.302C>A (p.Ala101Asp) c.198C>A n.11C>A c.241C>A c.173+76C>A c.24+76C>A (n.24+76C>A)
16	g.2046205C>A	CA394296787	NTHL1	c.277G>T (p.Ala93Ser) c.232G>T (p.Ala78Ser) c.301G>T (p.Ala101Ser) c.197G>T n.10G>T c.240G>T c.173+75G>T c.24+75G>T (n.24+75G>T)
16	g.2046205C=	CA2201986670	NTHL1	c.277G= (p.Ala93=) c.232G= (p.Ala78=) c.301G= (p.Ala101=) c.197G= n.10G= c.240G= c.173+75G= c.24+75G= (n.24+75G=)
16	g.2046205C>G	CA394296788	NTHL1	c.277G>C (p.Ala93Pro) c.232G>C (p.Ala78Pro) c.301G>C (p.Ala101Pro) c.197G>C n.10G>C c.240G>C c.173+75G>C c.24+75G>C (n.24+75G>C)
16	g.2046205C>T	CA7828330	NTHL1	c.277G>A (p.Ala93Thr) c.232G>A (p.Ala78Thr) c.301G>A (p.Ala101Thr) c.197G>A n.10G>A c.240G>A c.173+75G>A c.24+75G>A (n.24+75G>A)	ClinVar dbSNP ExAC gnomAD v2
16	g.2046206A>C	CA492953287	NTHL1	c.276T>G (p.Arg92=) c.231T>G (p.Arg77=) c.300T>G (p.Arg100=) c.196T>G n.9T>G c.239T>G c.173+74T>G c.24+74T>G (n.24+74T>G)	ClinVar
16	g.2046206A>G	CA492953289	NTHL1	c.276T>C (p.Arg92=) c.231T>C (p.Arg77=) c.300T>C (p.Arg100=) c.196T>C n.9T>C c.239T>C c.173+74T>C c.24+74T>C (n.24+74T>C)
16	g.2046206A>T	CA492953288	NTHL1	c.276T>A (p.Arg92=) c.231T>A (p.Arg77=) c.300T>A (p.Arg100=) c.196T>A n.9T>A c.239T>A c.173+74T>A c.24+74T>A (n.24+74T>A)
16	g.2046207C>A	CA394296793	NTHL1	c.275G>T (p.Arg92Leu) c.230G>T (p.Arg77Leu) c.299G>T (p.Arg100Leu) c.195G>T n.8G>T c.238G>T c.173+73G>T c.24+73G>T (n.24+73G>T)	ClinVar dbSNP
16	g.2046207C=	CA2201986674	NTHL1	c.275G= (p.Arg92=) c.230G= (p.Arg77=) c.299G= (p.Arg100=) c.195G= n.8G= c.238G= c.173+73G= c.24+73G= (n.24+73G=)
16	g.2046207C>G	CA394296795	NTHL1	c.275G>C (p.Arg92Pro) c.230G>C (p.Arg77Pro) c.299G>C (p.Arg100Pro) c.195G>C n.8G>C c.238G>C c.173+73G>C c.24+73G>C (n.24+73G>C)	ClinVar dbSNP
16	g.2046207C>T	CA7828331	NTHL1	c.275G>A (p.Arg92His) c.230G>A (p.Arg77His) c.299G>A (p.Arg100His) c.195G>A n.8G>A c.238G>A c.173+73G>A c.24+73G>A (n.24+73G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046208G>A	CA7828332	NTHL1	c.274C>T (p.Arg92Cys) c.229C>T (p.Arg77Cys) c.298C>T (p.Arg100Cys) c.194C>T n.7C>T c.237C>T c.173+72C>T c.24+72C>T (n.24+72C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046208G>C	CA394296802	NTHL1	c.274C>G (p.Arg92Gly) c.229C>G (p.Arg77Gly) c.298C>G (p.Arg100Gly) c.194C>G n.7C>G c.237C>G c.173+72C>G c.24+72C>G (n.24+72C>G)	dbSNP
16	g.2046208G=	CA2201986678	NTHL1	c.274C= (p.Arg92=) c.229C= (p.Arg77=) c.298C= (p.Arg100=) c.194C= n.7C= c.237C= c.173+72C= c.24+72C= (n.24+72C=)
16	g.2046208G>T	CA394296807	NTHL1	c.274C>A (p.Arg92Ser) c.229C>A (p.Arg77Ser) c.298C>A (p.Arg100Ser) c.194C>A n.7C>A c.237C>A c.173+72C>A c.24+72C>A (n.24+72C>A)
16	g.2046209G>A	CA7828333	NTHL1	c.273C>T (p.Ile91=) c.228C>T (p.Ile76=) c.297C>T (p.Ile99=) c.193C>T n.6C>T c.236C>T c.173+71C>T c.24+71C>T (n.24+71C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046209G>C	CA394296808	NTHL1	c.273C>G (p.Ile91Met) c.228C>G (p.Ile76Met) c.297C>G (p.Ile99Met) c.193C>G n.6C>G c.236C>G c.173+71C>G c.24+71C>G (n.24+71C>G)	dbSNP
16	g.2046209G=	CA2201986682	NTHL1	c.273C= (p.Ile91=) c.228C= (p.Ile76=) c.297C= (p.Ile99=) c.193C= n.6C= c.236C= c.173+71C= c.24+71C= (n.24+71C=)
16	g.2046209G>T	CA492953291	NTHL1	c.273C>A (p.Ile91=) c.228C>A (p.Ile76=) c.297C>A (p.Ile99=) c.193C>A n.6C>A c.236C>A c.173+71C>A c.24+71C>A (n.24+71C>A)
16	g.2046210A>C	CA394296811	NTHL1	c.272T>G (p.Ile91Ser) c.227T>G (p.Ile76Ser) c.296T>G (p.Ile99Ser) c.192T>G n.5T>G c.235T>G c.173+70T>G c.24+70T>G (n.24+70T>G)
16	g.2046210A>G	CA394296844	NTHL1	c.272T>C (p.Ile91Thr) c.227T>C (p.Ile76Thr) c.296T>C (p.Ile99Thr) c.192T>C n.5T>C c.235T>C c.173+70T>C c.24+70T>C (n.24+70T>C)
16	g.2046210A>T	CA394296823	NTHL1	c.272T>A (p.Ile91Asn) c.227T>A (p.Ile76Asn) c.296T>A (p.Ile99Asn) c.192T>A n.5T>A c.235T>A c.173+70T>A c.24+70T>A (n.24+70T>A)	dbSNP gnomAD v4
16	g.2046211T>A	CA394296852	NTHL1	c.271A>T (p.Ile91Phe) c.226A>T (p.Ile76Phe) c.295A>T (p.Ile99Phe) c.191A>T n.4A>T c.234A>T c.173+69A>T c.24+69A>T (n.24+69A>T)
16	g.2046211T>C	CA394296854	NTHL1	c.271A>G (p.Ile91Val) c.226A>G (p.Ile76Val) c.295A>G (p.Ile99Val) c.191A>G n.4A>G c.234A>G c.173+69A>G c.24+69A>G (n.24+69A>G)	ClinVar dbSNP gnomAD v4
16	g.2046211T>G	CA394296855	NTHL1	c.271A>C (p.Ile91Leu) c.226A>C (p.Ile76Leu) c.295A>C (p.Ile99Leu) c.191A>C n.4A>C c.234A>C c.173+69A>C c.24+69A>C (n.24+69A>C)
16	g.2046212G>A	CA492953293	NTHL1	c.270C>T (p.Asn90=) c.225C>T (p.Asn75=) c.294C>T (p.Asn98=) c.190C>T n.3C>T c.233C>T c.173+68C>T c.24+68C>T (n.24+68C>T)	ClinVar
16	g.2046212G>C	CA394296863	NTHL1	c.270C>G (p.Asn90Lys) c.225C>G (p.Asn75Lys) c.294C>G (p.Asn98Lys) c.190C>G n.3C>G c.233C>G c.173+68C>G c.24+68C>G (n.24+68C>G)
16	g.2046212G>T	CA394296894	NTHL1	c.270C>A (p.Asn90Lys) c.225C>A (p.Asn75Lys) c.294C>A (p.Asn98Lys) c.190C>A n.3C>A c.233C>A c.173+68C>A c.24+68C>A (n.24+68C>A)
16	g.2046213T>A	CA394296898	NTHL1	c.269A>T (p.Asn90Ile) c.224A>T (p.Asn75Ile) c.293A>T (p.Asn98Ile) c.189A>T n.2A>T c.232A>T c.173+67A>T c.24+67A>T (n.24+67A>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046213T>C	CA394296901	NTHL1	c.269A>G (p.Asn90Ser) c.224A>G (p.Asn75Ser) c.293A>G (p.Asn98Ser) c.189A>G n.2A>G c.232A>G c.173+67A>G c.24+67A>G (n.24+67A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046213T>G	CA394296903	NTHL1	c.269A>C (p.Asn90Thr) c.224A>C (p.Asn75Thr) c.293A>C (p.Asn98Thr) c.189A>C n.2A>C c.232A>C c.173+67A>C c.24+67A>C (n.24+67A>C)
16	g.2046213T=	CA2201986687	NTHL1	c.269A= (p.Asn90=) c.224A= (p.Asn75=) c.293A= (p.Asn98=) c.189A= n.2A= c.232A= c.173+67A= c.24+67A= (n.24+67A=)
16	g.2046214T>A	CA394296933	NTHL1	c.268A>T (p.Asn90Tyr) c.223A>T (p.Asn75Tyr) c.292A>T (p.Asn98Tyr) c.188A>T n.1A>T c.231A>T c.173+66A>T c.24+66A>T (n.24+66A>T)
16	g.2046214T>C	CA7828334	NTHL1	c.268A>G (p.Asn90Asp) c.223A>G (p.Asn75Asp) c.292A>G (p.Asn98Asp) c.188A>G n.1A>G c.231A>G c.173+66A>G c.24+66A>G (n.24+66A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046214T>G	CA394296970	NTHL1	c.268A>C (p.Asn90His) c.223A>C (p.Asn75His) c.292A>C (p.Asn98His) c.188A>C n.1A>C c.231A>C c.173+66A>C c.24+66A>C (n.24+66A>C)
16	g.2046214T=	CA2201986692	NTHL1	c.268A= (p.Asn90=) c.223A= (p.Asn75=) c.292A= (p.Asn98=) c.188A= n.1A= c.231A= c.173+66A= c.24+66A= (n.24+66A=)
16	g.2046215G>A	CA492953295	NTHL1	c.267C>T (p.Val89=) c.222C>T (p.Val74=) c.291C>T (p.Val97=) c.187C>T c.230C>T c.173+65C>T c.24+65C>T (n.24+65C>T)
16	g.2046215G>C	CA492953296	NTHL1	c.267C>G (p.Val89=) c.222C>G (p.Val74=) c.291C>G (p.Val97=) c.187C>G c.230C>G c.173+65C>G c.24+65C>G (n.24+65C>G)	ClinVar
16	g.2046215G>T	CA492953297	NTHL1	c.267C>A (p.Val89=) c.222C>A (p.Val74=) c.291C>A (p.Val97=) c.187C>A c.230C>A c.173+65C>A c.24+65C>A (n.24+65C>A)
16	g.2046216A=	CA2201986695	NTHL1	c.266T= (p.Val89=) c.221T= (p.Val74=) c.290T= (p.Val97=) c.186T= c.229T= c.173+64T= c.24+64T= (n.24+64T=)
16	g.2046216A>C	CA394296972	NTHL1	c.266T>G (p.Val89Gly) c.221T>G (p.Val74Gly) c.290T>G (p.Val97Gly) c.186T>G c.229T>G c.173+64T>G c.24+64T>G (n.24+64T>G)	dbSNP
16	g.2046216A>G	CA394296976	NTHL1	c.266T>C (p.Val89Ala) c.221T>C (p.Val74Ala) c.290T>C (p.Val97Ala) c.186T>C c.229T>C c.173+64T>C c.24+64T>C (n.24+64T>C)	ClinVar
16	g.2046216A>T	CA394296971	NTHL1	c.266T>A (p.Val89Asp) c.221T>A (p.Val74Asp) c.290T>A (p.Val97Asp) c.186T>A c.229T>A c.173+64T>A c.24+64T>A (n.24+64T>A)	ClinVar dbSNP gnomAD v4
16	g.2046217C>A	CA394296980	NTHL1	c.265G>T (p.Val89Phe) c.220G>T (p.Val74Phe) c.289G>T (p.Val97Phe) c.185G>T c.228G>T c.173+63G>T c.24+63G>T (n.24+63G>T)
16	g.2046217C>G	CA394296981	NTHL1	c.265G>C (p.Val89Leu) c.220G>C (p.Val74Leu) c.289G>C (p.Val97Leu) c.185G>C c.228G>C c.173+63G>C c.24+63G>C (n.24+63G>C)
16	g.2046217C>T	CA394296982	NTHL1	c.265G>A (p.Val89Ile) c.220G>A (p.Val74Ile) c.289G>A (p.Val97Ile) c.185G>A c.228G>A c.173+63G>A c.24+63G>A (n.24+63G>A)
16	g.2046218dup	CA2499223262	NTHL1	c.265dup (p.Val89GlyfsTer20) c.220dup (p.Val74GlyfsTer20) c.289dup (p.Val97GlyfsTer20) c.185dup c.228dup c.173+63dup c.24+63dup (n.24+63dup)	ClinVar dbSNP
16	g.2046218C>A	CA276765646	NTHL1	c.264G>T (p.Leu88=) c.219G>T (p.Leu73=) c.288G>T (p.Leu96=) c.184G>T c.227G>T c.173+62G>T c.24+62G>T (n.24+62G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046218C=	CA2201986698	NTHL1	c.264G= (p.Leu88=) c.219G= (p.Leu73=) c.288G= (p.Leu96=) c.184G= c.227G= c.173+62G= c.24+62G= (n.24+62G=)
16	g.2046218C>G	CA492953300	NTHL1	c.264G>C (p.Leu88=) c.219G>C (p.Leu73=) c.288G>C (p.Leu96=) c.184G>C c.227G>C c.173+62G>C c.24+62G>C (n.24+62G>C)
16	g.2046218C>T	CA492953301	NTHL1	c.264G>A (p.Leu88=) c.219G>A (p.Leu73=) c.288G>A (p.Leu96=) c.184G>A c.227G>A c.173+62G>A c.24+62G>A (n.24+62G>A)	ClinVar dbSNP
16	g.2046219del	CA2631108775	NTHL1	c.263del (p.Leu88ArgfsTer7) c.218del (p.Leu73ArgfsTer7) c.287del (p.Leu96ArgfsTer7) c.183del c.226del c.173+61del c.24+61del (n.24+61del)	gnomAD v4
16	g.2046219A>C	CA394296986	NTHL1	c.263T>G (p.Leu88Arg) c.218T>G (p.Leu73Arg) c.287T>G (p.Leu96Arg) c.183T>G c.226T>G c.173+61T>G c.24+61T>G (n.24+61T>G)
16	g.2046219A>G	CA394296994	NTHL1	c.263T>C (p.Leu88Pro) c.218T>C (p.Leu73Pro) c.287T>C (p.Leu96Pro) c.183T>C c.226T>C c.173+61T>C c.24+61T>C (n.24+61T>C)
16	g.2046219A>T	CA394296998	NTHL1	c.263T>A (p.Leu88Gln) c.218T>A (p.Leu73Gln) c.287T>A (p.Leu96Gln) c.183T>A c.226T>A c.173+61T>A c.24+61T>A (n.24+61T>A)
16	g.2046220G>A	CA492953302	NTHL1	c.262C>T (p.Leu88=) c.217C>T (p.Leu73=) c.286C>T (p.Leu96=) c.182C>T c.225C>T c.173+60C>T c.24+60C>T (n.24+60C>T)
16	g.2046220G>C	CA394297010	NTHL1	c.262C>G (p.Leu88Val) c.217C>G (p.Leu73Val) c.286C>G (p.Leu96Val) c.182C>G c.225C>G c.173+60C>G c.24+60C>G (n.24+60C>G)	ClinVar
16	g.2046220G=	CA2201986704	NTHL1	c.262C= (p.Leu88=) c.217C= (p.Leu73=) c.286C= (p.Leu96=) c.182C= c.225C= c.173+60C= c.24+60C= (n.24+60C=)
16	g.2046220G>T	CA394297012	NTHL1	c.262C>A (p.Leu88Met) c.217C>A (p.Leu73Met) c.286C>A (p.Leu96Met) c.182C>A c.225C>A c.173+60C>A c.24+60C>A (n.24+60C>A)	ClinVar dbSNP
16	g.2046221C>A	CA394297016	NTHL1	c.261G>T (p.Gln87His) c.216G>T (p.Gln72His) c.285G>T (p.Gln95His) c.181G>T c.224G>T c.173+59G>T c.24+59G>T (n.24+59G>T)
16	g.2046221C>G	CA394297042	NTHL1	c.261G>C (p.Gln87His) c.216G>C (p.Gln72His) c.285G>C (p.Gln95His) c.181G>C c.224G>C c.173+59G>C c.24+59G>C (n.24+59G>C)	ClinVar dbSNP gnomAD v4
16	g.2046221C>T	CA492953303	NTHL1	c.261G>A (p.Gln87=) c.216G>A (p.Gln72=) c.285G>A (p.Gln95=) c.181G>A c.224G>A c.173+59G>A c.24+59G>A (n.24+59G>A)	ClinVar gnomAD v4
16	g.2046222T>A	CA394297050	NTHL1	c.260A>T (p.Gln87Leu) c.215A>T (p.Gln72Leu) c.284A>T (p.Gln95Leu) c.180A>T c.223A>T c.173+58A>T c.24+58A>T (n.24+58A>T)
16	g.2046222T>C	CA394297053	NTHL1	c.260A>G (p.Gln87Arg) c.215A>G (p.Gln72Arg) c.284A>G (p.Gln95Arg) c.180A>G c.223A>G c.173+58A>G c.24+58A>G (n.24+58A>G)
16	g.2046222T>G	CA394297057	NTHL1	c.260A>C (p.Gln87Pro) c.215A>C (p.Gln72Pro) c.284A>C (p.Gln95Pro) c.180A>C c.223A>C c.173+58A>C c.24+58A>C (n.24+58A>C)	gnomAD v4
16	g.2046223G>A	CA7828335	NTHL1	c.259C>T (p.Gln87Ter) c.214C>T (p.Gln72Ter) c.283C>T (p.Gln95Ter) c.179C>T c.222C>T c.173+57C>T c.24+57C>T (n.24+57C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046223G>C	CA394297061	NTHL1	c.259C>G (p.Gln87Glu) c.214C>G (p.Gln72Glu) c.283C>G (p.Gln95Glu) c.179C>G c.222C>G c.173+57C>G c.24+57C>G (n.24+57C>G)	ClinVar dbSNP gnomAD v4
16	g.2046223G=	CA2201986707	NTHL1	c.259C= (p.Gln87=) c.214C= (p.Gln72=) c.283C= (p.Gln95=) c.179C= c.222C= c.173+57C= c.24+57C= (n.24+57C=)
16	g.2046223G>T	CA394297060	NTHL1	c.259C>A (p.Gln87Lys) c.214C>A (p.Gln72Lys) c.283C>A (p.Gln95Lys) c.179C>A c.222C>A c.173+57C>A c.24+57C>A (n.24+57C>A)
16	g.2046224T>A	CA394297071	NTHL1	c.258A>T (p.Gln86His) c.213A>T (p.Gln71His) c.282A>T (p.Gln94His) c.178A>T c.221A>T c.173+56A>T c.24+56A>T (n.24+56A>T)
16	g.2046224T>C	CA492953305	NTHL1	c.258A>G (p.Gln86=) c.213A>G (p.Gln71=) c.282A>G (p.Gln94=) c.178A>G c.221A>G c.173+56A>G c.24+56A>G (n.24+56A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046224T>G	CA394297078	NTHL1	c.258A>C (p.Gln86His) c.213A>C (p.Gln71His) c.282A>C (p.Gln94His) c.178A>C c.221A>C c.173+56A>C c.24+56A>C (n.24+56A>C)	gnomAD v4
16	g.2046224T=	CA2201986712	NTHL1	c.258A= (p.Gln86=) c.213A= (p.Gln71=) c.282A= (p.Gln94=) c.178A= c.221A= c.173+56A= c.24+56A= (n.24+56A=)
16	g.2046225T>A	CA394297088	NTHL1	c.257A>T (p.Gln86Leu) c.212A>T (p.Gln71Leu) c.281A>T (p.Gln94Leu) c.177A>T c.220A>T c.173+55A>T c.24+55A>T (n.24+55A>T)	ClinVar dbSNP
16	g.2046225T>C	CA276765653	NTHL1	c.257A>G (p.Gln86Arg) c.212A>G (p.Gln71Arg) c.281A>G (p.Gln94Arg) c.177A>G c.220A>G c.173+55A>G c.24+55A>G (n.24+55A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046225T>G	CA394297093	NTHL1	c.257A>C (p.Gln86Pro) c.212A>C (p.Gln71Pro) c.281A>C (p.Gln94Pro) c.177A>C c.220A>C c.173+55A>C c.24+55A>C (n.24+55A>C)	ClinVar dbSNP
16	g.2046225T=	CA2201986715	NTHL1	c.257A= (p.Gln86=) c.212A= (p.Gln71=) c.281A= (p.Gln94=) c.177A= c.220A= c.173+55A= c.24+55A= (n.24+55A=)
16	g.2046228_2046230del	CA2575876709	NTHL1	c.255_257del (p.Gln86del) c.210_212del (p.Gln71del) c.279_281del (p.Gln94del) c.175_177del c.218_220del c.173+53_173+55del c.24+53_24+55del (n.24+53_24+55del)
16	g.2046226G>A	CA394297097	NTHL1	c.256C>T (p.Gln86Ter) c.211C>T (p.Gln71Ter) c.280C>T (p.Gln94Ter) c.176C>T c.219C>T c.173+54C>T c.24+54C>T (n.24+54C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046226G>C	CA394297098	NTHL1	c.256C>G (p.Gln86Glu) c.211C>G (p.Gln71Glu) c.280C>G (p.Gln94Glu) c.176C>G c.219C>G c.173+54C>G c.24+54C>G (n.24+54C>G)	dbSNP gnomAD v4
16	g.2046226G=	CA2201986719	NTHL1	c.256C= (p.Gln86=) c.211C= (p.Gln71=) c.280C= (p.Gln94=) c.176C= c.219C= c.173+54C= c.24+54C= (n.24+54C=)
16	g.2046226G>T	CA394297099	NTHL1	c.256C>A (p.Gln86Lys) c.211C>A (p.Gln71Lys) c.280C>A (p.Gln94Lys) c.176C>A c.219C>A c.173+54C>A c.24+54C>A (n.24+54C>A)	dbSNP
16	g.2046227C>A	CA394297100	NTHL1	c.255G>T (p.Gln85His) c.210G>T (p.Gln70His) c.279G>T (p.Gln93His) c.175G>T c.218G>T c.173+53G>T c.24+53G>T (n.24+53G>T)	ClinVar gnomAD v4
16	g.2046227C>G	CA394297103	NTHL1	c.255G>C (p.Gln85His) c.210G>C (p.Gln70His) c.279G>C (p.Gln93His) c.175G>C c.218G>C c.173+53G>C c.24+53G>C (n.24+53G>C)
16	g.2046227C>T	CA492953307	NTHL1	c.255G>A (p.Gln85=) c.210G>A (p.Gln70=) c.279G>A (p.Gln93=) c.175G>A c.218G>A c.173+53G>A c.24+53G>A (n.24+53G>A)	ClinVar dbSNP
16	g.2046229_2046258del	CA2631108820	NTHL1	c.226_255del (p.Val76_Gln85del) c.181_210del (p.Val61_Gln70del) c.250_279del (p.Val84_Gln93del) c.146_175del c.189_218del c.173+24_173+53del c.24+24_24+53del (n.24+24_24+53del)	gnomAD v4
16	g.2046228T>A	CA7828336	NTHL1	c.254A>T (p.Gln85Leu) c.209A>T (p.Gln70Leu) c.278A>T (p.Gln93Leu) c.174A>T c.217A>T c.173+52A>T c.24+52A>T (n.24+52A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2046228T>C	CA394297111	NTHL1	c.254A>G (p.Gln85Arg) c.209A>G (p.Gln70Arg) c.278A>G (p.Gln93Arg) c.174A>G c.217A>G c.173+52A>G c.24+52A>G (n.24+52A>G)
16	g.2046228T>G	CA394297114	NTHL1	c.254A>C (p.Gln85Pro) c.209A>C (p.Gln70Pro) c.278A>C (p.Gln93Pro) c.174A>C c.217A>C c.173+52A>C c.24+52A>C (n.24+52A>C)
16	g.2046228T=	CA2201986723	NTHL1	c.254A= (p.Gln85=) c.209A= (p.Gln70=) c.278A= (p.Gln93=) c.174A= c.217A= c.173+52A= c.24+52A= (n.24+52A=)
16	g.2046229G>A	CA394297122	NTHL1	c.253C>T (p.Gln85Ter) c.208C>T (p.Gln70Ter) c.277C>T (p.Gln93Ter) c.173C>T c.216C>T c.173+51C>T c.24+51C>T (n.24+51C>T)	dbSNP
16	g.2046229G>C	CA394297120	NTHL1	c.253C>G (p.Gln85Glu) c.208C>G (p.Gln70Glu) c.277C>G (p.Gln93Glu) c.173C>G c.216C>G c.173+51C>G c.24+51C>G (n.24+51C>G)
16	g.2046229G>T	CA394297117	NTHL1	c.253C>A (p.Gln85Lys) c.208C>A (p.Gln70Lys) c.277C>A (p.Gln93Lys) c.173C>A c.216C>A c.173+51C>A c.24+51C>A (n.24+51C>A)
16	g.2046230C>A	CA394297125	NTHL1	c.252G>T (p.Trp84Cys) c.207G>T (p.Trp69Cys) c.276G>T (p.Trp92Cys) c.172G>T c.215G>T c.173+50G>T c.24+50G>T (n.24+50G>T)
16	g.2046230C=	CA2201986728	NTHL1	c.252G= (p.Trp84=) c.207G= (p.Trp69=) c.276G= (p.Trp92=) c.172G= c.215G= c.173+50G= c.24+50G= (n.24+50G=)
16	g.2046230C>G	CA7828337	NTHL1	c.252G>C (p.Trp84Cys) c.207G>C (p.Trp69Cys) c.276G>C (p.Trp92Cys) c.172G>C c.215G>C c.173+50G>C c.24+50G>C (n.24+50G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046230C>T	CA394297128	NTHL1	c.252G>A (p.Trp84Ter) c.207G>A (p.Trp69Ter) c.276G>A (p.Trp92Ter) c.172G>A c.215G>A c.173+50G>A c.24+50G>A (n.24+50G>A)	ClinVar
16	g.2046231C>A	CA394297133	NTHL1	c.251G>T (p.Trp84Leu) c.206G>T (p.Trp69Leu) c.275G>T (p.Trp92Leu) c.171G>T c.214G>T c.173+49G>T c.24+49G>T (n.24+49G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046231C=	CA2201986733	NTHL1	c.251G= (p.Trp84=) c.206G= (p.Trp69=) c.275G= (p.Trp92=) c.171G= c.214G= c.173+49G= c.24+49G= (n.24+49G=)
16	g.2046231C>G	CA394297134	NTHL1	c.251G>C (p.Trp84Ser) c.206G>C (p.Trp69Ser) c.275G>C (p.Trp92Ser) c.171G>C c.214G>C c.173+49G>C c.24+49G>C (n.24+49G>C)
16	g.2046231C>T	CA394297135	NTHL1	c.251G>A (p.Trp84Ter) c.206G>A (p.Trp69Ter) c.275G>A (p.Trp92Ter) c.171G>A c.214G>A c.173+49G>A c.24+49G>A (n.24+49G>A)
16	g.2046231_2046242delinsAAG	CA2825002412	NTHL1	c.240_251delinsCTT (p.Glu80_Trp84delinsAspLeu) c.195_206delinsCTT (p.Glu65_Trp69delinsAspLeu) c.264_275delinsCTT (p.Glu88_Trp92delinsAspLeu) c.160_171delinsCTT c.203_214delinsCTT c.173+38_173+49delinsCTT c.24+38_24+49delinsCTT (n.24+38_24+49delinsCTT)	ClinVar
16	g.2046232A>C	CA394297136	NTHL1	c.250T>G (p.Trp84Gly) c.205T>G (p.Trp69Gly) c.274T>G (p.Trp92Gly) c.170T>G c.213T>G c.173+48T>G c.24+48T>G (n.24+48T>G)
16	g.2046232A>G	CA394297138	NTHL1	c.250T>C (p.Trp84Arg) c.205T>C (p.Trp69Arg) c.274T>C (p.Trp92Arg) c.170T>C c.213T>C c.173+48T>C c.24+48T>C (n.24+48T>C)	ClinVar
16	g.2046232A>T	CA394297143	NTHL1	c.250T>A (p.Trp84Arg) c.205T>A (p.Trp69Arg) c.274T>A (p.Trp92Arg) c.170T>A c.213T>A c.173+48T>A c.24+48T>A (n.24+48T>A)
16	g.2046233G>A	CA492953311	NTHL1	c.249C>T (p.Asp83=) c.204C>T (p.Asp68=) c.273C>T (p.Asp91=) c.169C>T c.212C>T c.173+47C>T c.24+47C>T (n.24+47C>T)	ClinVar dbSNP gnomAD v4
16	g.2046233G>C	CA394297147	NTHL1	c.249C>G (p.Asp83Glu) c.204C>G (p.Asp68Glu) c.273C>G (p.Asp91Glu) c.169C>G c.212C>G c.173+47C>G c.24+47C>G (n.24+47C>G)	ClinVar dbSNP
16	g.2046233G=	CA2201986739	NTHL1	c.249C= (p.Asp83=) c.204C= (p.Asp68=) c.273C= (p.Asp91=) c.169C= c.212C= c.173+47C= c.24+47C= (n.24+47C=)
16	g.2046233G>T	CA394297149	NTHL1	c.249C>A (p.Asp83Glu) c.204C>A (p.Asp68Glu) c.273C>A (p.Asp91Glu) c.169C>A c.212C>A c.173+47C>A c.24+47C>A (n.24+47C>A)
16	g.2046233_2046242delinsGTCCTGGGGC	CA2201986738	NTHL1	c.240_249delinsGCCCCAGGAC (p.Glu80=) c.195_204delinsGCCCCAGGAC (p.Glu65=) c.264_273delinsGCCCCAGGAC (p.Glu88=) c.160_169delinsGCCCCAGGAC c.203_212delinsGCCCCAGGAC c.173+38_173+47delinsGCCCCAGGAC c.24+38_24+47delinsGCCCCAGGAC (n.24+38_24+47delinsGCCCCAGGAC)
16	g.2046234T>A	CA394297153	NTHL1	c.248A>T (p.Asp83Val) c.203A>T (p.Asp68Val) c.272A>T (p.Asp91Val) c.168A>T c.211A>T c.173+46A>T c.24+46A>T (n.24+46A>T)
16	g.2046234T>C	CA394297154	NTHL1	c.248A>G (p.Asp83Gly) c.203A>G (p.Asp68Gly) c.272A>G (p.Asp91Gly) c.168A>G c.211A>G c.173+46A>G c.24+46A>G (n.24+46A>G)	ClinVar
16	g.2046234T>G	CA394297155	NTHL1	c.248A>C (p.Asp83Ala) c.203A>C (p.Asp68Ala) c.272A>C (p.Asp91Ala) c.168A>C c.211A>C c.173+46A>C c.24+46A>C (n.24+46A>C)
16	g.2046237_2046245del	CA620704675	NTHL1	c.240_248del (p.Glu80_Gln82del) c.195_203del (p.Glu65_Gln67del) c.264_272del (p.Glu88_Gln90del) c.160_168del c.203_211del c.173+38_173+46del c.24+38_24+46del (n.24+38_24+46del)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046235C>A	CA394297156	NTHL1	c.247G>T (p.Asp83Tyr) c.202G>T (p.Asp68Tyr) c.271G>T (p.Asp91Tyr) c.167G>T c.210G>T c.173+45G>T c.24+45G>T (n.24+45G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046235C=	CA2201986748	NTHL1	c.247G= (p.Asp83=) c.202G= (p.Asp68=) c.271G= (p.Asp91=) c.167G= c.210G= c.173+45G= c.24+45G= (n.24+45G=)
16	g.2046235C>G	CA394297158	NTHL1	c.247G>C (p.Asp83His) c.202G>C (p.Asp68His) c.271G>C (p.Asp91His) c.167G>C c.210G>C c.173+45G>C c.24+45G>C (n.24+45G>C)
16	g.2046235C>T	CA394297164	NTHL1	c.247G>A (p.Asp83Asn) c.202G>A (p.Asp68Asn) c.271G>A (p.Asp91Asn) c.167G>A c.210G>A c.173+45G>A c.24+45G>A (n.24+45G>A)
16	g.2046235_2046236delinsAT	CA915946197	NTHL1	c.246_247delinsAT (p.Asp83Tyr) c.201_202delinsAT (p.Asp68Tyr) c.270_271delinsAT (p.Asp91Tyr) c.166_167delinsAT c.209_210delinsAT c.173+44_173+45delinsAT c.24+44_24+45delinsAT (n.24+44_24+45delinsAT)	ClinVar dbSNP
16	g.2046235_2046236delinsCC	CA2201986746	NTHL1	c.246_247delinsGG (p.Gln82=) c.201_202delinsGG (p.Gln67=) c.270_271delinsGG (p.Gln90=) c.166_167delinsGG c.209_210delinsGG c.173+44_173+45delinsGG c.24+44_24+45delinsGG (n.24+44_24+45delinsGG)
16	g.2046236del	CA2573151820	NTHL1	c.247del (p.Asp83ThrfsTer12) c.202del (p.Asp68ThrfsTer12) c.271del (p.Asp91ThrfsTer12) c.167del c.210del c.173+45del c.24+45del (n.24+45del)	ClinVar dbSNP
16	g.2046236C>A	CA394297169	NTHL1	c.246G>T (p.Gln82His) c.201G>T (p.Gln67His) c.270G>T (p.Gln90His) c.166G>T c.209G>T c.173+44G>T c.24+44G>T (n.24+44G>T)
16	g.2046236C=	CA2201986753	NTHL1	c.246G= (p.Gln82=) c.201G= (p.Gln67=) c.270G= (p.Gln90=) c.166G= c.209G= c.173+44G= c.24+44G= (n.24+44G=)
16	g.2046236C>G	CA394297168	NTHL1	c.246G>C (p.Gln82His) c.201G>C (p.Gln67His) c.270G>C (p.Gln90His) c.166G>C c.209G>C c.173+44G>C c.24+44G>C (n.24+44G>C)
16	g.2046236C>T	CA492953313	NTHL1	c.246G>A (p.Gln82=) c.201G>A (p.Gln67=) c.270G>A (p.Gln90=) c.166G>A c.209G>A c.173+44G>A c.24+44G>A (n.24+44G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046237T>A	CA394297171	NTHL1	c.245A>T (p.Gln82Leu) c.200A>T (p.Gln67Leu) c.269A>T (p.Gln90Leu) c.165A>T c.208A>T c.173+43A>T c.24+43A>T (n.24+43A>T)
16	g.2046237T>C	CA394297172	NTHL1	c.245A>G (p.Gln82Arg) c.200A>G (p.Gln67Arg) c.269A>G (p.Gln90Arg) c.165A>G c.208A>G c.173+43A>G c.24+43A>G (n.24+43A>G)	ClinVar dbSNP
16	g.2046237T>G	CA394297176	NTHL1	c.245A>C (p.Gln82Pro) c.200A>C (p.Gln67Pro) c.269A>C (p.Gln90Pro) c.165A>C c.208A>C c.173+43A>C c.24+43A>C (n.24+43A>C)
16	g.2046238G>A	CA200196	NTHL1	c.244C>T (p.Gln82Ter) c.199C>T (p.Gln67Ter) c.268C>T (p.Gln90Ter) c.164C>T c.207C>T c.173+42C>T c.24+42C>T (n.24+42C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046238G>C	CA394297181	NTHL1	c.244C>G (p.Gln82Glu) c.199C>G (p.Gln67Glu) c.268C>G (p.Gln90Glu) c.164C>G c.207C>G c.173+42C>G c.24+42C>G (n.24+42C>G)
16	g.2046238G=	CA2201986757	NTHL1	c.244C= (p.Gln82=) c.199C= (p.Gln67=) c.268C= (p.Gln90=) c.164C= c.207C= c.173+42C= c.24+42C= (n.24+42C=)
16	g.2046238G>T	CA394297184	NTHL1	c.244C>A (p.Gln82Lys) c.199C>A (p.Gln67Lys) c.268C>A (p.Gln90Lys) c.164C>A c.207C>A c.173+42C>A c.24+42C>A (n.24+42C>A)
16	g.2046239G>A	CA492953316	NTHL1	c.243C>T (p.Pro81=) c.198C>T (p.Pro66=) c.267C>T (p.Pro89=) c.163C>T c.206C>T c.173+41C>T c.24+41C>T (n.24+41C>T)	gnomAD v4
16	g.2046239G>C	CA492953315	NTHL1	c.243C>G (p.Pro81=) c.198C>G (p.Pro66=) c.267C>G (p.Pro89=) c.163C>G c.206C>G c.173+41C>G c.24+41C>G (n.24+41C>G)
16	g.2046239G>T	CA492953314	NTHL1	c.243C>A (p.Pro81=) c.198C>A (p.Pro66=) c.267C>A (p.Pro89=) c.163C>A c.206C>A c.173+41C>A c.24+41C>A (n.24+41C>A)
16	g.2046240G>A	CA394297203	NTHL1	c.242C>T (p.Pro81Leu) c.197C>T (p.Pro66Leu) c.266C>T (p.Pro89Leu) c.162C>T c.205C>T c.173+40C>T c.24+40C>T (n.24+40C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046240G>C	CA394297187	NTHL1	c.242C>G (p.Pro81Arg) c.197C>G (p.Pro66Arg) c.266C>G (p.Pro89Arg) c.162C>G c.205C>G c.173+40C>G c.24+40C>G (n.24+40C>G)
16	g.2046240G=	CA2201986760	NTHL1	c.242C= (p.Pro81=) c.197C= (p.Pro66=) c.266C= (p.Pro89=) c.162C= c.205C= c.173+40C= c.24+40C= (n.24+40C=)
16	g.2046240G>T	CA7828338	NTHL1	c.242C>A (p.Pro81His) c.197C>A (p.Pro66His) c.266C>A (p.Pro89His) c.162C>A c.205C>A c.173+40C>A c.24+40C>A (n.24+40C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2046240_2046241insA	CA2573151821	NTHL1	c.241_242insT (p.Pro81LeufsTer28) c.196_197insT (p.Pro66LeufsTer28) c.265_266insT (p.Pro89LeufsTer28) c.161_162insT c.204_205insT c.173+39_173+40insT c.24+39_24+40insT (n.24+39_24+40insT)	ClinVar dbSNP
16	g.2046241G>A	CA394297211	NTHL1	c.241C>T (p.Pro81Ser) c.196C>T (p.Pro66Ser) c.265C>T (p.Pro89Ser) c.161C>T c.204C>T c.173+39C>T c.24+39C>T (n.24+39C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16	g.2046241G>C	CA394297214	NTHL1	c.241C>G (p.Pro81Ala) c.196C>G (p.Pro66Ala) c.265C>G (p.Pro89Ala) c.161C>G c.204C>G c.173+39C>G c.24+39C>G (n.24+39C>G)	ClinVar dbSNP gnomAD v4
16	g.2046241G=	CA2201986762	NTHL1	c.241C= (p.Pro81=) c.196C= (p.Pro66=) c.265C= (p.Pro89=) c.161C= c.204C= c.173+39C= c.24+39C= (n.24+39C=)
16	g.2046241G>T	CA394297229	NTHL1	c.241C>A (p.Pro81Thr) c.196C>A (p.Pro66Thr) c.265C>A (p.Pro89Thr) c.161C>A c.204C>A c.173+39C>A c.24+39C>A (n.24+39C>A)	gnomAD v4
16	g.2046242C>A	CA394297232	NTHL1	c.240G>T (p.Glu80Asp) c.195G>T (p.Glu65Asp) c.264G>T (p.Glu88Asp) c.160G>T c.203G>T c.173+38G>T c.24+38G>T (n.24+38G>T)
16	g.2046242C>G	CA394297235	NTHL1	c.240G>C (p.Glu80Asp) c.195G>C (p.Glu65Asp) c.264G>C (p.Glu88Asp) c.160G>C c.203G>C c.173+38G>C c.24+38G>C (n.24+38G>C)
16	g.2046242C>T	CA492953320	NTHL1	c.240G>A (p.Glu80=) c.195G>A (p.Glu65=) c.264G>A (p.Glu88=) c.160G>A c.203G>A c.173+38G>A c.24+38G>A (n.24+38G>A)	ClinVar gnomAD v4
16	g.2046243del	CA2573151822	NTHL1	c.239del (p.Glu80GlyfsTer15) c.194del (p.Glu65GlyfsTer15) c.263del (p.Glu88GlyfsTer15) c.159del c.202del c.173+37del c.24+37del (n.24+37del)	ClinVar dbSNP
16	g.2046243T>A	CA394297242	NTHL1	c.239A>T (p.Glu80Val) c.194A>T (p.Glu65Val) c.263A>T (p.Glu88Val) c.159A>T c.202A>T c.173+37A>T c.24+37A>T (n.24+37A>T)
16	g.2046243T>C	CA394297237	NTHL1	c.239A>G (p.Glu80Gly) c.194A>G (p.Glu65Gly) c.263A>G (p.Glu88Gly) c.159A>G c.202A>G c.173+37A>G c.24+37A>G (n.24+37A>G)	dbSNP
16	g.2046243T>G	CA394297240	NTHL1	c.239A>C (p.Glu80Ala) c.194A>C (p.Glu65Ala) c.263A>C (p.Glu88Ala) c.159A>C c.202A>C c.173+37A>C c.24+37A>C (n.24+37A>C)
16	g.2046244C>A	CA394297246	NTHL1	c.238G>T (p.Glu80Ter) c.193G>T (p.Glu65Ter) c.262G>T (p.Glu88Ter) c.158G>T c.201G>T c.173+36G>T c.24+36G>T (n.24+36G>T)	dbSNP
16	g.2046244C>G	CA394297247	NTHL1	c.238G>C (p.Glu80Gln) c.193G>C (p.Glu65Gln) c.262G>C (p.Glu88Gln) c.158G>C c.201G>C c.173+36G>C c.24+36G>C (n.24+36G>C)	gnomAD v4
16	g.2046244C>T	CA394297251	NTHL1	c.238G>A (p.Glu80Lys) c.193G>A (p.Glu65Lys) c.262G>A (p.Glu88Lys) c.158G>A c.201G>A c.173+36G>A c.24+36G>A (n.24+36G>A)
16	g.2046245C>A	CA394297255	NTHL1	c.237G>T (p.Trp79Cys) c.192G>T (p.Trp64Cys) c.261G>T (p.Trp87Cys) c.157G>T c.200G>T c.173+35G>T c.24+35G>T (n.24+35G>T)	dbSNP
16	g.2046245C=	CA2201986765	NTHL1	c.237G= (p.Trp79=) c.192G= (p.Trp64=) c.261G= (p.Trp87=) c.157G= c.200G= c.173+35G= c.24+35G= (n.24+35G=)
16	g.2046245C>G	CA394297262	NTHL1	c.237G>C (p.Trp79Cys) c.192G>C (p.Trp64Cys) c.261G>C (p.Trp87Cys) c.157G>C c.200G>C c.173+35G>C c.24+35G>C (n.24+35G>C)	ClinVar dbSNP
16	g.2046245C>T	CA394297266	NTHL1	c.237G>A (p.Trp79Ter) c.192G>A (p.Trp64Ter) c.261G>A (p.Trp87Ter) c.157G>A c.200G>A c.173+35G>A c.24+35G>A (n.24+35G>A)	ClinVar dbSNP
16	g.2046246C>A	CA394297273	NTHL1	c.236G>T (p.Trp79Leu) c.191G>T (p.Trp64Leu) c.260G>T (p.Trp87Leu) c.156G>T c.199G>T c.173+34G>T c.24+34G>T (n.24+34G>T)	ClinVar dbSNP
16	g.2046246C>G	CA394297277	NTHL1	c.236G>C (p.Trp79Ser) c.191G>C (p.Trp64Ser) c.260G>C (p.Trp87Ser) c.156G>C c.199G>C c.173+34G>C c.24+34G>C (n.24+34G>C)
16	g.2046246C>T	CA394297311	NTHL1	c.236G>A (p.Trp79Ter) c.191G>A (p.Trp64Ter) c.260G>A (p.Trp87Ter) c.156G>A c.199G>A c.173+34G>A c.24+34G>A (n.24+34G>A)
16	g.2046247A=	CA2201986768	NTHL1	c.235T= (p.Trp79=) c.190T= (p.Trp64=) c.259T= (p.Trp87=) c.155T= c.198T= c.173+33T= c.24+33T= (n.24+33T=)
16	g.2046247A>C	CA394297314	NTHL1	c.235T>G (p.Trp79Gly) c.190T>G (p.Trp64Gly) c.259T>G (p.Trp87Gly) c.155T>G c.198T>G c.173+33T>G c.24+33T>G (n.24+33T>G)	ClinVar dbSNP gnomAD v4
16	g.2046247A>G	CA394297315	NTHL1	c.235T>C (p.Trp79Arg) c.190T>C (p.Trp64Arg) c.259T>C (p.Trp87Arg) c.155T>C c.198T>C c.173+33T>C c.24+33T>C (n.24+33T>C)
16	g.2046247A>T	CA394297316	NTHL1	c.235T>A (p.Trp79Arg) c.190T>A (p.Trp64Arg) c.259T>A (p.Trp87Arg) c.155T>A c.198T>A c.173+33T>A c.24+33T>A (n.24+33T>A)
16	g.2046248G>A	CA492953321	NTHL1	c.234C>T (p.Val78=) c.189C>T (p.Val63=) c.258C>T (p.Val86=) c.154C>T c.197C>T c.173+32C>T c.24+32C>T (n.24+32C>T)	ClinVar dbSNP
16	g.2046248G>C	CA492953322	NTHL1	c.234C>G (p.Val78=) c.189C>G (p.Val63=) c.258C>G (p.Val86=) c.154C>G c.197C>G c.173+32C>G c.24+32C>G (n.24+32C>G)	ClinVar dbSNP gnomAD v4
16	g.2046248G=	CA2201986771	NTHL1	c.234C= (p.Val78=) c.189C= (p.Val63=) c.258C= (p.Val86=) c.154C= c.197C= c.173+32C= c.24+32C= (n.24+32C=)
16	g.2046248G>T	CA492953323	NTHL1	c.234C>A (p.Val78=) c.189C>A (p.Val63=) c.258C>A (p.Val86=) c.154C>A c.197C>A c.173+32C>A c.24+32C>A (n.24+32C>A)
16	g.2046248dup	CA2573151823	NTHL1	c.234dup (p.Trp79LeufsTer30) c.189dup (p.Trp64LeufsTer30) c.258dup (p.Trp87LeufsTer30) c.154dup c.197dup c.173+32dup c.24+32dup (n.24+32dup)	ClinVar dbSNP
16	g.2046249A>C	CA394297321	NTHL1	c.233T>G (p.Val78Gly) c.188T>G (p.Val63Gly) c.257T>G (p.Val86Gly) c.153T>G c.196T>G c.173+31T>G c.24+31T>G (n.24+31T>G)
16	g.2046249A>G	CA394297320	NTHL1	c.233T>C (p.Val78Ala) c.188T>C (p.Val63Ala) c.257T>C (p.Val86Ala) c.153T>C c.196T>C c.173+31T>C c.24+31T>C (n.24+31T>C)
16	g.2046249A>T	CA394297319	NTHL1	c.233T>A (p.Val78Asp) c.188T>A (p.Val63Asp) c.257T>A (p.Val86Asp) c.153T>A c.196T>A c.173+31T>A c.24+31T>A (n.24+31T>A)
16	g.2046249_2046250delinsAC	CA2201986774	NTHL1	c.232_233delinsGT (p.Val78=) c.187_188delinsGT (p.Val63=) c.256_257delinsGT (p.Val86=) c.152_153delinsGT c.195_196delinsGT c.173+30_173+31delinsGT c.24+30_24+31delinsGT (n.24+30_24+31delinsGT)
16	g.2046250del	CA718909211	NTHL1	c.232del (p.Val78SerfsTer17) c.187del (p.Val63SerfsTer17) c.256del (p.Val86SerfsTer17) c.152del c.195del c.173+30del c.24+30del (n.24+30del)	ClinVar dbSNP gnomAD v4
16	g.2046250C>A	CA394297325	NTHL1	c.232G>T (p.Val78Phe) c.187G>T (p.Val63Phe) c.256G>T (p.Val86Phe) c.152G>T c.195G>T c.173+30G>T c.24+30G>T (n.24+30G>T)	dbSNP
16	g.2046250C=	CA2201986787	NTHL1	c.232G= (p.Val78=) c.187G= (p.Val63=) c.256G= (p.Val86=) c.152G= c.195G= c.173+30G= c.24+30G= (n.24+30G=)
16	g.2046250C>G	CA394297328	NTHL1	c.232G>C (p.Val78Leu) c.187G>C (p.Val63Leu) c.256G>C (p.Val86Leu) c.152G>C c.195G>C c.173+30G>C c.24+30G>C (n.24+30G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046250C>T	CA394297329	NTHL1	c.232G>A (p.Val78Ile) c.187G>A (p.Val63Ile) c.256G>A (p.Val86Ile) c.152G>A c.195G>A c.173+30G>A c.24+30G>A (n.24+30G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046251T>A	CA492953324	NTHL1	c.231A>T (p.Pro77=) c.186A>T (p.Pro62=) c.255A>T (p.Pro85=) c.151A>T c.194A>T c.173+29A>T c.24+29A>T (n.24+29A>T)
16	g.2046251T>C	CA7828339	NTHL1	c.231A>G (p.Pro77=) c.186A>G (p.Pro62=) c.255A>G (p.Pro85=) c.151A>G c.194A>G c.173+29A>G c.24+29A>G (n.24+29A>G)	ClinVar dbSNP ExAC gnomAD v2
16	g.2046251T>G	CA492953326	NTHL1	c.231A>C (p.Pro77=) c.186A>C (p.Pro62=) c.255A>C (p.Pro85=) c.151A>C c.194A>C c.173+29A>C c.24+29A>C (n.24+29A>C)	ClinVar
16	g.2046251T=	CA2201986796	NTHL1	c.231A= (p.Pro77=) c.186A= (p.Pro62=) c.255A= (p.Pro85=) c.151A= c.194A= c.173+29A= c.24+29A= (n.24+29A=)
16	g.2046252G>A	CA394297332	NTHL1	c.230C>T (p.Pro77Leu) c.185C>T (p.Pro62Leu) c.254C>T (p.Pro85Leu) c.150C>T c.193C>T c.173+28C>T c.24+28C>T (n.24+28C>T)
16	g.2046252G>C	CA394297333	NTHL1	c.230C>G (p.Pro77Arg) c.185C>G (p.Pro62Arg) c.254C>G (p.Pro85Arg) c.150C>G c.193C>G c.173+28C>G c.24+28C>G (n.24+28C>G)
16	g.2046252G>T	CA394297334	NTHL1	c.230C>A (p.Pro77Gln) c.185C>A (p.Pro62Gln) c.254C>A (p.Pro85Gln) c.150C>A c.193C>A c.173+28C>A c.24+28C>A (n.24+28C>A)
16	g.2046253G>A	CA394297335	NTHL1	c.229C>T (p.Pro77Ser) c.184C>T (p.Pro62Ser) c.253C>T (p.Pro85Ser) c.149C>T c.192C>T c.173+27C>T c.24+27C>T (n.24+27C>T)	ClinVar dbSNP
16	g.2046253G>C	CA394297339	NTHL1	c.229C>G (p.Pro77Ala) c.184C>G (p.Pro62Ala) c.253C>G (p.Pro85Ala) c.149C>G c.192C>G c.173+27C>G c.24+27C>G (n.24+27C>G)	ClinVar gnomAD v4
16	g.2046253G=	CA2201986799	NTHL1	c.229C= (p.Pro77=) c.184C= (p.Pro62=) c.253C= (p.Pro85=) c.149C= c.192C= c.173+27C= c.24+27C= (n.24+27C=)
16	g.2046253G>T	CA394297341	NTHL1	c.229C>A (p.Pro77Thr) c.184C>A (p.Pro62Thr) c.253C>A (p.Pro85Thr) c.149C>A c.192C>A c.173+27C>A c.24+27C>A (n.24+27C>A)	dbSNP gnomAD v2 gnomAD v4
16	g.2046254C>A	CA492953327	NTHL1	c.228G>T (p.Val76=) c.183G>T (p.Val61=) c.252G>T (p.Val84=) c.148G>T c.191G>T c.173+26G>T c.24+26G>T (n.24+26G>T)
16	g.2046254C>G	CA492953328	NTHL1	c.228G>C (p.Val76=) c.183G>C (p.Val61=) c.252G>C (p.Val84=) c.148G>C c.191G>C c.173+26G>C c.24+26G>C (n.24+26G>C)
16	g.2046254C>T	CA492953329	NTHL1	c.228G>A (p.Val76=) c.183G>A (p.Val61=) c.252G>A (p.Val84=) c.148G>A c.191G>A c.173+26G>A c.24+26G>A (n.24+26G>A)
16	g.2046255A>C	CA394297348	NTHL1	c.227T>G (p.Val76Gly) c.182T>G (p.Val61Gly) c.251T>G (p.Val84Gly) c.147T>G c.190T>G c.173+25T>G c.24+25T>G (n.24+25T>G)
16	g.2046255A>G	CA394297350	NTHL1	c.227T>C (p.Val76Ala) c.182T>C (p.Val61Ala) c.251T>C (p.Val84Ala) c.147T>C c.190T>C c.173+25T>C c.24+25T>C (n.24+25T>C)
16	g.2046255A>T	CA394297353	NTHL1	c.227T>A (p.Val76Glu) c.182T>A (p.Val61Glu) c.251T>A (p.Val84Glu) c.147T>A c.190T>A c.173+25T>A c.24+25T>A (n.24+25T>A)
16	g.2046256C>A	CA394297362	NTHL1	c.226G>T (p.Val76Leu) c.181G>T (p.Val61Leu) c.250G>T (p.Val84Leu) c.146G>T c.189G>T c.173+24G>T c.24+24G>T (n.24+24G>T)
16	g.2046256C>G	CA394297363	NTHL1	c.226G>C (p.Val76Leu) c.181G>C (p.Val61Leu) c.250G>C (p.Val84Leu) c.146G>C c.189G>C c.173+24G>C c.24+24G>C (n.24+24G>C)
16	g.2046256C>T	CA394297357	NTHL1	c.226G>A (p.Val76Met) c.181G>A (p.Val61Met) c.250G>A (p.Val84Met) c.146G>A c.189G>A c.173+24G>A c.24+24G>A (n.24+24G>A)
16	g.2046257del	CA2580090648	NTHL1	c.226del (p.Val76CysfsTer19) c.181del (p.Val61CysfsTer19) c.250del (p.Val84CysfsTer19) c.146del c.189del c.173+24del c.24+24del (n.24+24del)	ClinVar gnomAD v4
16	g.2046257C>A	CA394297364	NTHL1	c.225G>T (p.Lys75Asn) c.180G>T (p.Lys60Asn) c.249G>T (p.Lys83Asn) c.145G>T c.188G>T c.173+23G>T c.24+23G>T (n.24+23G>T)	ClinVar dbSNP
16	g.2046257C=	CA2201986803	NTHL1	c.225G= (p.Lys75=) c.180G= (p.Lys60=) c.249G= (p.Lys83=) c.145G= c.188G= c.173+23G= c.24+23G= (n.24+23G=)
16	g.2046257C>G	CA394297365	NTHL1	c.225G>C (p.Lys75Asn) c.180G>C (p.Lys60Asn) c.249G>C (p.Lys83Asn) c.145G>C c.188G>C c.173+23G>C c.24+23G>C (n.24+23G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046257C>T	CA492953330	NTHL1	c.225G>A (p.Lys75=) c.180G>A (p.Lys60=) c.249G>A (p.Lys83=) c.145G>A c.188G>A c.173+23G>A c.24+23G>A (n.24+23G>A)	ClinVar
16	g.2046258T>A	CA394297369	NTHL1	c.224A>T (p.Lys75Met) c.179A>T (p.Lys60Met) c.248A>T (p.Lys83Met) c.144A>T c.187A>T c.173+22A>T c.24+22A>T (n.24+22A>T)	gnomAD v4
16	g.2046258T>C	CA394297373	NTHL1	c.224A>G (p.Lys75Arg) c.179A>G (p.Lys60Arg) c.248A>G (p.Lys83Arg) c.144A>G c.187A>G c.173+22A>G c.24+22A>G (n.24+22A>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046258T>G	CA394297378	NTHL1	c.224A>C (p.Lys75Thr) c.179A>C (p.Lys60Thr) c.248A>C (p.Lys83Thr) c.144A>C c.187A>C c.173+22A>C c.24+22A>C (n.24+22A>C)	ClinVar dbSNP
16	g.2046258T=	CA2201986810	NTHL1	c.224A= (p.Lys75=) c.179A= (p.Lys60=) c.248A= (p.Lys83=) c.144A= c.187A= c.173+22A= c.24+22A= (n.24+22A=)
16	g.2046259T>A	CA394297383	NTHL1	c.223A>T (p.Lys75Ter) c.178A>T (p.Lys60Ter) c.247A>T (p.Lys83Ter) c.143A>T c.186A>T c.173+21A>T c.24+21A>T (n.24+21A>T)	ClinVar
16	g.2046259T>C	CA394297387	NTHL1	c.223A>G (p.Lys75Glu) c.178A>G (p.Lys60Glu) c.247A>G (p.Lys83Glu) c.143A>G c.186A>G c.173+21A>G c.24+21A>G (n.24+21A>G)
16	g.2046259T>G	CA394297390	NTHL1	c.223A>C (p.Lys75Gln) c.178A>C (p.Lys60Gln) c.247A>C (p.Lys83Gln) c.143A>C c.186A>C c.173+21A>C c.24+21A>C (n.24+21A>C)	ClinVar gnomAD v4
16	g.2046260G>A	CA492953334	NTHL1	c.222C>T (p.Leu74=) c.177C>T (p.Leu59=) c.246C>T (p.Leu82=) c.142C>T c.185C>T c.173+20C>T c.24+20C>T (n.24+20C>T)
16	g.2046260G>C	CA7828340	NTHL1	c.222C>G (p.Leu74=) c.177C>G (p.Leu59=) c.246C>G (p.Leu82=) c.142C>G c.185C>G c.173+20C>G c.24+20C>G (n.24+20C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046260G=	CA2201986814	NTHL1	c.222C= (p.Leu74=) c.177C= (p.Leu59=) c.246C= (p.Leu82=) c.142C= c.185C= c.173+20C= c.24+20C= (n.24+20C=)
16	g.2046260G>T	CA492953333	NTHL1	c.222C>A (p.Leu74=) c.177C>A (p.Leu59=) c.246C>A (p.Leu82=) c.142C>A c.185C>A c.173+20C>A c.24+20C>A (n.24+20C>A)
16	g.2046261A>C	CA394297396	NTHL1	c.221T>G (p.Leu74Arg) c.176T>G (p.Leu59Arg) c.245T>G (p.Leu82Arg) c.141T>G c.184T>G c.173+19T>G c.24+19T>G (n.24+19T>G)
16	g.2046261A>G	CA394297400	NTHL1	c.221T>C (p.Leu74Pro) c.176T>C (p.Leu59Pro) c.245T>C (p.Leu82Pro) c.141T>C c.184T>C c.173+19T>C c.24+19T>C (n.24+19T>C)	dbSNP
16	g.2046261A>T	CA394297404	NTHL1	c.221T>A (p.Leu74His) c.176T>A (p.Leu59His) c.245T>A (p.Leu82His) c.141T>A c.184T>A c.173+19T>A c.24+19T>A (n.24+19T>A)	dbSNP
16	g.2046262G>A	CA394297422	NTHL1	c.220C>T (p.Leu74Phe) c.175C>T (p.Leu59Phe) c.244C>T (p.Leu82Phe) c.140C>T c.183C>T c.173+18C>T c.24+18C>T (n.24+18C>T)	ClinVar dbSNP
16	g.2046262G>C	CA394297426	NTHL1	c.220C>G (p.Leu74Val) c.175C>G (p.Leu59Val) c.244C>G (p.Leu82Val) c.140C>G c.183C>G c.173+18C>G c.24+18C>G (n.24+18C>G)	gnomAD v4
16	g.2046262G>T	CA394297446	NTHL1	c.220C>A (p.Leu74Ile) c.175C>A (p.Leu59Ile) c.244C>A (p.Leu82Ile) c.140C>A c.183C>A c.173+18C>A c.24+18C>A (n.24+18C>A)
16	g.2046263G>A	CA492953335	NTHL1	c.219C>T (p.Pro73=) c.174C>T (p.Pro58=) c.243C>T (p.Pro81=) c.139C>T c.182C>T c.173+17C>T c.24+17C>T (n.24+17C>T)	ClinVar
16	g.2046263G>C	CA492953339	NTHL1	c.219C>G (p.Pro73=) c.174C>G (p.Pro58=) c.243C>G (p.Pro81=) c.139C>G c.182C>G c.173+17C>G c.24+17C>G (n.24+17C>G)
16	g.2046263G>T	CA492953337	NTHL1	c.219C>A (p.Pro73=) c.174C>A (p.Pro58=) c.243C>A (p.Pro81=) c.139C>A c.182C>A c.173+17C>A c.24+17C>A (n.24+17C>A)
16	g.2046264G>A	CA394297452	NTHL1	c.218C>T (p.Pro73Leu) c.173C>T (p.Pro58Leu) c.242C>T (p.Pro81Leu) c.138C>T c.181C>T c.173+16C>T c.24+16C>T (n.24+16C>T)	ClinVar dbSNP
16	g.2046264G>C	CA394297459	NTHL1	c.218C>G (p.Pro73Arg) c.173C>G (p.Pro58Arg) c.242C>G (p.Pro81Arg) c.138C>G c.181C>G c.173+16C>G c.24+16C>G (n.24+16C>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046264G=	CA2201986819	NTHL1	c.218C= (p.Pro73=) c.173C= (p.Pro58=) c.242C= (p.Pro81=) c.138C= c.181C= c.173+16C= c.24+16C= (n.24+16C=)
16	g.2046264G>T	CA394297457	NTHL1	c.218C>A (p.Pro73His) c.173C>A (p.Pro58His) c.242C>A (p.Pro81His) c.138C>A c.181C>A c.173+16C>A c.24+16C>A (n.24+16C>A)	ClinVar dbSNP
16	g.2046265G>A	CA394297464	NTHL1	c.217C>T (p.Pro73Ser) c.172C>T (p.Pro58Ser) c.241C>T (p.Pro81Ser) c.137C>T c.180C>T c.173+15C>T c.24+15C>T (n.24+15C>T)	ClinVar gnomAD v4
16	g.2046265G>C	CA394297467	NTHL1	c.217C>G (p.Pro73Ala) c.172C>G (p.Pro58Ala) c.241C>G (p.Pro81Ala) c.137C>G c.180C>G c.173+15C>G c.24+15C>G (n.24+15C>G)
16	g.2046265G>T	CA394297469	NTHL1	c.217C>A (p.Pro73Thr) c.172C>A (p.Pro58Thr) c.241C>A (p.Pro81Thr) c.137C>A c.180C>A c.173+15C>A c.24+15C>A (n.24+15C>A)	ClinVar gnomAD v4
16	g.2046265_2046266delinsAA	CA2582342637	NTHL1	c.216_217delinsTT (p.Glu72_Pro73delinsAspSer) c.171_172delinsTT (p.Glu57_Pro58delinsAspSer) c.240_241delinsTT (p.Glu80_Pro81delinsAspSer) c.136_137delinsTT c.179_180delinsTT c.173+14_173+15delinsTT c.24+14_24+15delinsTT (n.24+14_24+15delinsTT)	ClinVar
16	g.2046266del	CA2697549530	NTHL1	c.216del (p.Glu72AspfsTer23) c.171del (p.Glu57AspfsTer23) c.240del (p.Glu80AspfsTer23) c.136del c.179del c.173+14del c.24+14del (n.24+14del)	ClinVar
16	g.2046266C>A	CA394297476	NTHL1	c.216G>T (p.Glu72Asp) c.171G>T (p.Glu57Asp) c.240G>T (p.Glu80Asp) c.136G>T c.179G>T c.173+14G>T c.24+14G>T (n.24+14G>T)	ClinVar gnomAD v4
16	g.2046266C=	CA2201986822	NTHL1	c.216G= (p.Glu72=) c.171G= (p.Glu57=) c.240G= (p.Glu80=) c.136G= c.179G= c.173+14G= c.24+14G= (n.24+14G=)
16	g.2046266C>G	CA394297483	NTHL1	c.216G>C (p.Glu72Asp) c.171G>C (p.Glu57Asp) c.240G>C (p.Glu80Asp) c.136G>C c.179G>C c.173+14G>C c.24+14G>C (n.24+14G>C)	ClinVar
16	g.2046266C>T	CA492953340	NTHL1	c.216G>A (p.Glu72=) c.171G>A (p.Glu57=) c.240G>A (p.Glu80=) c.136G>A c.179G>A c.173+14G>A c.24+14G>A (n.24+14G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046267T>A	CA394297490	NTHL1	c.215A>T (p.Glu72Val) c.170A>T (p.Glu57Val) c.239A>T (p.Glu80Val) c.135A>T c.178A>T c.173+13A>T c.24+13A>T (n.24+13A>T)
16	g.2046267T>C	CA394297496	NTHL1	c.215A>G (p.Glu72Gly) c.170A>G (p.Glu57Gly) c.239A>G (p.Glu80Gly) c.135A>G c.178A>G c.173+13A>G c.24+13A>G (n.24+13A>G)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046267T>G	CA394297500	NTHL1	c.215A>C (p.Glu72Ala) c.170A>C (p.Glu57Ala) c.239A>C (p.Glu80Ala) c.135A>C c.178A>C c.173+13A>C c.24+13A>C (n.24+13A>C)	ClinVar
16	g.2046267T=	CA2201986825	NTHL1	c.215A= (p.Glu72=) c.170A= (p.Glu57=) c.239A= (p.Glu80=) c.135A= c.178A= c.173+13A= c.24+13A= (n.24+13A=)
16	g.2046268C>A	CA394297504	NTHL1	c.214G>T (p.Glu72Ter) c.169G>T (p.Glu57Ter) c.238G>T (p.Glu80Ter) c.134G>T c.177G>T c.173+12G>T c.24+12G>T (n.24+12G>T)	dbSNP
16	g.2046268C=	CA2201986829	NTHL1	c.214G= (p.Glu72=) c.169G= (p.Glu57=) c.238G= (p.Glu80=) c.134G= c.177G= c.173+12G= c.24+12G= (n.24+12G=)
16	g.2046268C>G	CA394297511	NTHL1	c.214G>C (p.Glu72Gln) c.169G>C (p.Glu57Gln) c.238G>C (p.Glu80Gln) c.134G>C c.177G>C c.173+12G>C c.24+12G>C (n.24+12G>C)
16	g.2046268C>T	CA394297518	NTHL1	c.214G>A (p.Glu72Lys) c.169G>A (p.Glu57Lys) c.238G>A (p.Glu80Lys) c.134G>A c.177G>A c.173+12G>A c.24+12G>A (n.24+12G>A)	ClinVar dbSNP
16	g.2046269A>C	CA492953342	NTHL1	c.213T>G (p.Ala71=) c.168T>G (p.Ala56=) c.237T>G (p.Ala79=) c.133T>G c.176T>G c.173+11T>G c.24+11T>G (n.24+11T>G)	ClinVar
16	g.2046269A>G	CA492953343	NTHL1	c.213T>C (p.Ala71=) c.168T>C (p.Ala56=) c.237T>C (p.Ala79=) c.133T>C c.176T>C c.173+11T>C c.24+11T>C (n.24+11T>C)	ClinVar dbSNP gnomAD v4
16	g.2046269A>T	CA492953344	NTHL1	c.213T>A (p.Ala71=) c.168T>A (p.Ala56=) c.237T>A (p.Ala79=) c.133T>A c.176T>A c.173+11T>A c.24+11T>A (n.24+11T>A)
16	g.2046270del	CA2739269912	NTHL1	c.212del (p.Ala71ValfsTer24) c.167del (p.Ala56ValfsTer24) c.236del (p.Ala79ValfsTer24) c.132del c.175del c.173+10del c.24+10del (n.24+10del)	ClinVar
16	g.2046270G>A	CA394297519	NTHL1	c.212C>T (p.Ala71Val) c.167C>T (p.Ala56Val) c.236C>T (p.Ala79Val) c.132C>T c.175C>T c.173+10C>T c.24+10C>T (n.24+10C>T)	dbSNP gnomAD v4
16	g.2046270G>C	CA394297524	NTHL1	c.212C>G (p.Ala71Gly) c.167C>G (p.Ala56Gly) c.236C>G (p.Ala79Gly) c.132C>G c.175C>G c.173+10C>G c.24+10C>G (n.24+10C>G)	dbSNP
16	g.2046270G=	CA2201986834	NTHL1	c.212C= (p.Ala71=) c.167C= (p.Ala56=) c.236C= (p.Ala79=) c.132C= c.175C= c.173+10C= c.24+10C= (n.24+10C=)
16	g.2046270G>T	CA394297521	NTHL1	c.212C>A (p.Ala71Asp) c.167C>A (p.Ala56Asp) c.236C>A (p.Ala79Asp) c.132C>A c.175C>A c.173+10C>A c.24+10C>A (n.24+10C>A)
16	g.2046271C>A	CA394297529	NTHL1	c.211G>T (p.Ala71Ser) c.166G>T (p.Ala56Ser) c.235G>T (p.Ala79Ser) c.131G>T c.174G>T c.173+9G>T c.24+9G>T (n.24+9G>T)
16	g.2046271C>G	CA394297531	NTHL1	c.211G>C (p.Ala71Pro) c.166G>C (p.Ala56Pro) c.235G>C (p.Ala79Pro) c.131G>C c.174G>C c.173+9G>C c.24+9G>C (n.24+9G>C)	gnomAD v4
16	g.2046271C>T	CA394297532	NTHL1	c.211G>A (p.Ala71Thr) c.166G>A (p.Ala56Thr) c.235G>A (p.Ala79Thr) c.131G>A c.174G>A c.173+9G>A c.24+9G>A (n.24+9G>A)	ClinVar dbSNP
16	g.2046275dup	CA7828341	NTHL1	c.211dup (p.Ala71GlyfsTer2) c.166dup (p.Ala56GlyfsTer2) c.235dup (p.Ala79GlyfsTer2) c.131dup c.174dup c.173+9dup c.24+9dup (n.24+9dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046275del	CA2575876716	NTHL1	c.211del (p.Ala71LeufsTer24) c.166del (p.Ala56LeufsTer24) c.235del (p.Ala79LeufsTer24) c.131del c.174del c.173+9del c.24+9del (n.24+9del)
16	g.2046272C>A	CA492953345	NTHL1	c.210G>T (p.Gly70=) c.165G>T (p.Gly55=) c.234G>T (p.Gly78=) c.130G>T c.173G>T c.173+8G>T c.24+8G>T (n.24+8G>T)	ClinVar
16	g.2046272C=	CA2201986840	NTHL1	c.210G= (p.Gly70=) c.165G= (p.Gly55=) c.234G= (p.Gly78=) c.130G= c.173G= c.173+8G= c.24+8G= (n.24+8G=)
16	g.2046272C>G	CA492953346	NTHL1	c.210G>C (p.Gly70=) c.165G>C (p.Gly55=) c.234G>C (p.Gly78=) c.130G>C c.173G>C c.173+8G>C c.24+8G>C (n.24+8G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046272C>T	CA492953347	NTHL1	c.210G>A (p.Gly70=) c.165G>A (p.Gly55=) c.234G>A (p.Gly78=) c.130G>A c.173G>A c.173+8G>A c.24+8G>A (n.24+8G>A)	ClinVar dbSNP
16	g.2046273C>A	CA394297533	NTHL1	c.209G>T (p.Gly70Val) c.164G>T (p.Gly55Val) c.233G>T (p.Gly78Val) c.129G>T c.172G>T c.173+7G>T c.24+7G>T (n.24+7G>T)
16	g.2046273C=	CA2201986845	NTHL1	c.209G= (p.Gly70=) c.164G= (p.Gly55=) c.233G= (p.Gly78=) c.129G= c.172G= c.173+7G= c.24+7G= (n.24+7G=)
16	g.2046273C>G	CA394297534	NTHL1	c.209G>C (p.Gly70Ala) c.164G>C (p.Gly55Ala) c.233G>C (p.Gly78Ala) c.129G>C c.172G>C c.173+7G>C c.24+7G>C (n.24+7G>C)
16	g.2046273C>T	CA394297538	NTHL1	c.209G>A (p.Gly70Glu) c.164G>A (p.Gly55Glu) c.233G>A (p.Gly78Glu) c.129G>A c.172G>A c.173+7G>A c.24+7G>A (n.24+7G>A)	ClinVar dbSNP gnomAD v4
16	g.2046274C>A	CA394297541	NTHL1	c.208G>T (p.Gly70Trp) c.163G>T (p.Gly55Trp) c.232G>T (p.Gly78Trp) c.128G>T c.171G>T c.173+6G>T c.24+6G>T (n.24+6G>T)	ClinVar dbSNP
16	g.2046274C=	CA2201986849	NTHL1	c.208G= (p.Gly70=) c.163G= (p.Gly55=) c.232G= (p.Gly78=) c.128G= c.171G= c.173+6G= c.24+6G= (n.24+6G=)
16	g.2046274C>G	CA394297545	NTHL1	c.208G>C (p.Gly70Arg) c.163G>C (p.Gly55Arg) c.232G>C (p.Gly78Arg) c.128G>C c.171G>C c.173+6G>C c.24+6G>C (n.24+6G>C)
16	g.2046274C>T	CA394297547	NTHL1	c.208G>A (p.Gly70Arg) c.163G>A (p.Gly55Arg) c.232G>A (p.Gly78Arg) c.128G>A c.171G>A c.173+6G>A c.24+6G>A (n.24+6G>A)	ClinVar
16	g.2046275C>A	CA394297550	NTHL1	c.207G>T (p.Glu69Asp) c.162G>T (p.Glu54Asp) c.231G>T (p.Glu77Asp) c.127G>T c.170G>T c.173+5G>T c.24+5G>T (n.24+5G>T)
16	g.2046275C>G	CA394297552	NTHL1	c.207G>C (p.Glu69Asp) c.162G>C (p.Glu54Asp) c.231G>C (p.Glu77Asp) c.127G>C c.170G>C c.173+5G>C c.24+5G>C (n.24+5G>C)	ClinVar dbSNP
16	g.2046275C>T	CA492953350	NTHL1	c.207G>A (p.Glu69=) c.162G>A (p.Glu54=) c.231G>A (p.Glu77=) c.127G>A c.170G>A c.173+5G>A c.24+5G>A (n.24+5G>A)	ClinVar dbSNP
16	g.2046276T>A	CA394297560	NTHL1	c.206A>T (p.Glu69Val) c.161A>T (p.Glu54Val) c.230A>T (p.Glu77Val) c.126A>T c.169A>T c.173+4A>T c.24+4A>T (n.24+4A>T)	ClinVar
16	g.2046276T>C	CA394297555	NTHL1	c.206A>G (p.Glu69Gly) c.161A>G (p.Glu54Gly) c.230A>G (p.Glu77Gly) c.126A>G c.169A>G c.173+4A>G c.24+4A>G (n.24+4A>G)
16	g.2046276T>G	CA394297558	NTHL1	c.206A>C (p.Glu69Ala) c.161A>C (p.Glu54Ala) c.230A>C (p.Glu77Ala) c.126A>C c.169A>C c.173+4A>C c.24+4A>C (n.24+4A>C)
16	g.2046277C>A	CA394297565	NTHL1	c.205G>T (p.Glu69Ter) c.160G>T (p.Glu54Ter) c.229G>T (p.Glu77Ter) c.125G>T c.168G>T c.173+3G>T c.24+3G>T (n.24+3G>T)
16	g.2046277C>G	CA394297567	NTHL1	c.205G>C (p.Glu69Gln) c.160G>C (p.Glu54Gln) c.229G>C (p.Glu77Gln) c.125G>C c.168G>C c.173+3G>C c.24+3G>C (n.24+3G>C)
16	g.2046277C>T	CA394297569	NTHL1	c.205G>A (p.Glu69Lys) c.160G>A (p.Glu54Lys) c.229G>A (p.Glu77Lys) c.125G>A c.168G>A c.173+3G>A c.24+3G>A (n.24+3G>A)	gnomAD v4
16	g.2046278A>C	CA492953353	NTHL1	c.204T>G (p.Gly68=) c.159T>G (p.Gly53=) c.228T>G (p.Gly76=) c.124T>G c.167T>G c.173+2T>G c.24+2T>G (n.24+2T>G)
16	g.2046278A>G	CA492953352	NTHL1	c.204T>C (p.Gly68=) c.159T>C (p.Gly53=) c.228T>C (p.Gly76=) c.124T>C c.167T>C c.173+2T>C c.24+2T>C (n.24+2T>C)	ClinVar
16	g.2046278A>T	CA492953351	NTHL1	c.204T>A (p.Gly68=) c.159T>A (p.Gly53=) c.228T>A (p.Gly76=) c.124T>A c.167T>A c.173+2T>A c.24+2T>A (n.24+2T>A)
16	g.2046278_2046279delinsAC	CA2201986851	NTHL1	c.203_204delinsGT (p.Gly68=) c.158_159delinsGT (p.Gly53=) c.227_228delinsGT (p.Gly76=) c.123_124delinsGT c.166_167delinsGT c.173+1_173+2delinsGT c.24+1_24+2delinsGT (n.24+1_24+2delinsGT)
16	g.2046279C>A	CA394297573	NTHL1	c.203G>T (p.Gly68Val) c.158G>T (p.Gly53Val) c.227G>T (p.Gly76Val) c.123G>T c.166G>T c.173+1G>T c.24+1G>T (n.24+1G>T)
16	g.2046279C=	CA2201986854	NTHL1	c.203G= (p.Gly68=) c.158G= (p.Gly53=) c.227G= (p.Gly76=) c.123G= c.166G= c.173+1G= c.24+1G= (n.24+1G=)
16	g.2046279C>G	CA394297575	NTHL1	c.203G>C (p.Gly68Ala) c.158G>C (p.Gly53Ala) c.227G>C (p.Gly76Ala) c.123G>C c.166G>C c.173+1G>C c.24+1G>C (n.24+1G>C)
16	g.2046279C>T	CA394297578	NTHL1	c.203G>A (p.Gly68Asp) c.158G>A (p.Gly53Asp) c.227G>A (p.Gly76Asp) c.123G>A c.166G>A c.173+1G>A c.24+1G>A (n.24+1G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046280del	CA658824856	NTHL1	c.203del (p.Gly68ValfsTer27) c.158del (p.Gly53ValfsTer27) c.227del (p.Gly76ValfsTer27) c.123del c.166del c.173+1del c.24+1del	ClinVar dbSNP gnomAD v4
16	g.2046280C>A	CA394297582	NTHL1	c.202G>T (p.Gly68Cys) c.157G>T (p.Gly53Cys) c.226G>T (p.Gly76Cys) c.122G>T c.165G>T c.173G>T c.24G>T (p.Lys8Asn)
16	g.2046280C>G	CA394297584	NTHL1	c.202G>C (p.Gly68Arg) c.157G>C (p.Gly53Arg) c.226G>C (p.Gly76Arg) c.122G>C c.165G>C c.173G>C c.24G>C (p.Lys8Asn)
16	g.2046280C>T	CA394297587	NTHL1	c.202G>A (p.Gly68Ser) c.157G>A (p.Gly53Ser) c.226G>A (p.Gly76Ser) c.122G>A c.165G>A c.173G>A c.24G>A (p.Lys8=)	ClinVar dbSNP
16	g.2046281T>A	CA394297589	NTHL1	c.201A>T (p.Lys67Asn) c.156A>T (p.Lys52Asn) c.225A>T (p.Lys75Asn) c.121A>T c.164A>T c.172A>T c.23A>T (p.Lys8Met)
16	g.2046281T>C	CA492953357	NTHL1	c.201A>G (p.Lys67=) c.156A>G (p.Lys52=) c.225A>G (p.Lys75=) c.121A>G c.164A>G c.172A>G c.23A>G (p.Lys8Arg)	ClinVar
16	g.2046281T>G	CA394297592	NTHL1	c.201A>C (p.Lys67Asn) c.156A>C (p.Lys52Asn) c.225A>C (p.Lys75Asn) c.121A>C c.164A>C c.172A>C c.23A>C (p.Lys8Thr)	ClinVar dbSNP
16	g.2046281T=	CA2201986861	NTHL1	c.201A= (p.Lys67=) c.156A= (p.Lys52=) c.225A= (p.Lys75=) c.121A= c.164A= c.172A= c.23A= (p.Lys8=)
16	g.2046282T>A	CA394297613	NTHL1	c.200A>T (p.Lys67Ile) c.155A>T (p.Lys52Ile) c.224A>T (p.Lys75Ile) c.120A>T c.163A>T c.171A>T c.22A>T (p.Lys8Ter)
16	g.2046282T>C	CA394297608	NTHL1	c.200A>G (p.Lys67Arg) c.155A>G (p.Lys52Arg) c.224A>G (p.Lys75Arg) c.120A>G c.163A>G c.171A>G c.22A>G (p.Lys8Glu)
16	g.2046282T>G	CA394297596	NTHL1	c.200A>C (p.Lys67Thr) c.155A>C (p.Lys52Thr) c.224A>C (p.Lys75Thr) c.120A>C c.163A>C c.171A>C c.22A>C (p.Lys8Gln)
16	g.2046283T>A	CA394297617	NTHL1	c.199A>T (p.Lys67Ter) c.154A>T (p.Lys52Ter) c.223A>T (p.Lys75Ter) c.119A>T c.162A>T c.170A>T c.21A>T (p.Arg7Ser)	ClinVar
16	g.2046283T>C	CA394297622	NTHL1	c.199A>G (p.Lys67Glu) c.154A>G (p.Lys52Glu) c.223A>G (p.Lys75Glu) c.119A>G c.162A>G c.170A>G c.21A>G (p.Arg7=)
16	g.2046283T>G	CA394297618	NTHL1	c.199A>C (p.Lys67Gln) c.154A>C (p.Lys52Gln) c.223A>C (p.Lys75Gln) c.119A>C c.162A>C c.170A>C c.21A>C (p.Arg7Ser)
16	g.2046284del	CA2631108957	NTHL1	c.198del (p.Gly68ValfsTer27) c.153del (p.Gly53ValfsTer27) c.222del (p.Gly76ValfsTer27) c.118del c.161del c.169del c.20del (p.Arg7LysfsTer12)	gnomAD v4
16	g.2046284C>A	CA394297625	NTHL1	c.198G>T (p.Glu66Asp) c.153G>T (p.Glu51Asp) c.222G>T (p.Glu74Asp) c.118G>T c.161G>T c.169G>T c.20G>T (p.Arg7Ile)
16	g.2046284C>G	CA394297627	NTHL1	c.198G>C (p.Glu66Asp) c.153G>C (p.Glu51Asp) c.222G>C (p.Glu74Asp) c.118G>C c.161G>C c.169G>C c.20G>C (p.Arg7Thr)	gnomAD v4
16	g.2046284C>T	CA492953358	NTHL1	c.198G>A (p.Glu66=) c.153G>A (p.Glu51=) c.222G>A (p.Glu74=) c.118G>A c.161G>A c.169G>A c.20G>A (p.Arg7Lys)	ClinVar
16	g.2046285T>A	CA394297630	NTHL1	c.197A>T (p.Glu66Val) c.152A>T (p.Glu51Val) c.221A>T (p.Glu74Val) c.117A>T c.160A>T c.168A>T c.19A>T (p.Arg7Ter)
16	g.2046285T>C	CA394297633	NTHL1	c.197A>G (p.Glu66Gly) c.152A>G (p.Glu51Gly) c.221A>G (p.Glu74Gly) c.117A>G c.160A>G c.168A>G c.19A>G (p.Arg7Gly)
16	g.2046285T>G	CA394297636	NTHL1	c.197A>C (p.Glu66Ala) c.152A>C (p.Glu51Ala) c.221A>C (p.Glu74Ala) c.117A>C c.160A>C c.168A>C c.19A>C (p.Arg7=)
16	g.2046286C>A	CA394297646	NTHL1	c.196G>T (p.Glu66Ter) c.151G>T (p.Glu51Ter) c.220G>T (p.Glu74Ter) c.116G>T c.159G>T c.167G>T c.18G>T (p.Val6=)	dbSNP
16	g.2046286C>G	CA394297649	NTHL1	c.196G>C (p.Glu66Gln) c.151G>C (p.Glu51Gln) c.220G>C (p.Glu74Gln) c.116G>C c.159G>C c.167G>C c.18G>C (p.Val6=)	dbSNP
16	g.2046286C>T	CA394297653	NTHL1	c.196G>A (p.Glu66Lys) c.151G>A (p.Glu51Lys) c.220G>A (p.Glu74Lys) c.116G>A c.159G>A c.167G>A c.18G>A (p.Val6=)	ClinVar dbSNP
16	g.2046287A>C	CA394297656	NTHL1	c.195T>G (p.Ser65Arg) c.150T>G (p.Ser50Arg) c.219T>G (p.Ser73Arg) c.115T>G c.158T>G c.166T>G c.17T>G (p.Val6Gly)
16	g.2046287A>G	CA492953362	NTHL1	c.195T>C (p.Ser65=) c.150T>C (p.Ser50=) c.219T>C (p.Ser73=) c.115T>C c.158T>C c.166T>C c.17T>C (p.Val6Ala)
16	g.2046287A>T	CA394297658	NTHL1	c.195T>A (p.Ser65Arg) c.150T>A (p.Ser50Arg) c.219T>A (p.Ser73Arg) c.115T>A c.158T>A c.166T>A c.17T>A (p.Val6Glu)
16	g.2046288C>A	CA394297661	NTHL1	c.194G>T (p.Ser65Ile) c.149G>T (p.Ser50Ile) c.218G>T (p.Ser73Ile) c.114G>T c.157G>T c.165G>T c.16G>T (p.Val6Leu)
16	g.2046288C=	CA2201986864	NTHL1	c.194G= (p.Ser65=) c.149G= (p.Ser50=) c.218G= (p.Ser73=) c.114G= c.157G= c.165G= c.16G= (p.Val6=)
16	g.2046288C>G	CA394297664	NTHL1	c.194G>C (p.Ser65Thr) c.149G>C (p.Ser50Thr) c.218G>C (p.Ser73Thr) c.114G>C c.157G>C c.165G>C c.16G>C (p.Val6Leu)	ClinVar
16	g.2046288C>T	CA7828342	NTHL1	c.194G>A (p.Ser65Asn) c.149G>A (p.Ser50Asn) c.218G>A (p.Ser73Asn) c.114G>A c.157G>A c.165G>A c.16G>A (p.Val6Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2046289T>A	CA394297677	NTHL1	c.193A>T (p.Ser65Cys) c.148A>T (p.Ser50Cys) c.217A>T (p.Ser73Cys) c.113A>T c.156A>T c.164A>T c.15A>T (p.Thr5=)
16	g.2046289T>C	CA394297671	NTHL1	c.193A>G (p.Ser65Gly) c.148A>G (p.Ser50Gly) c.217A>G (p.Ser73Gly) c.113A>G c.156A>G c.164A>G c.15A>G (p.Thr5=)	ClinVar dbSNP
16	g.2046289T>G	CA394297673	NTHL1	c.193A>C (p.Ser65Arg) c.148A>C (p.Ser50Arg) c.217A>C (p.Ser73Arg) c.113A>C c.156A>C c.164A>C c.15A>C (p.Thr5=)	ClinVar
16	g.2046289T=	CA2201986869	NTHL1	c.193A= (p.Ser65=) c.148A= (p.Ser50=) c.217A= (p.Ser73=) c.113A= c.156A= c.164A= c.15A= (p.Thr5=)
16	g.2046290G>A	CA492953364	NTHL1	c.192C>T (p.Asp64=) c.147C>T (p.Asp49=) c.216C>T (p.Asp72=) c.112C>T c.155C>T c.163C>T c.14C>T (p.Thr5Ile)
16	g.2046290G>C	CA394297680	NTHL1	c.192C>G (p.Asp64Glu) c.147C>G (p.Asp49Glu) c.216C>G (p.Asp72Glu) c.112C>G c.155C>G c.163C>G c.14C>G (p.Thr5Arg)	ClinVar dbSNP
16	g.2046290G=	CA2201986874	NTHL1	c.192C= (p.Asp64=) c.147C= (p.Asp49=) c.216C= (p.Asp72=) c.112C= c.155C= c.163C= c.14C= (p.Thr5=)
16	g.2046290G>T	CA394297683	NTHL1	c.192C>A (p.Asp64Glu) c.147C>A (p.Asp49Glu) c.216C>A (p.Asp72Glu) c.112C>A c.155C>A c.163C>A c.14C>A (p.Thr5Lys)
16	g.2046291T>A	CA394297684	NTHL1	c.191A>T (p.Asp64Val) c.146A>T (p.Asp49Val) c.215A>T (p.Asp72Val) c.111A>T c.154A>T c.162A>T c.13A>T (p.Thr5Ser)
16	g.2046291T>C	CA394297687	NTHL1	c.191A>G (p.Asp64Gly) c.146A>G (p.Asp49Gly) c.215A>G (p.Asp72Gly) c.111A>G c.154A>G c.162A>G c.13A>G (p.Thr5Ala)
16	g.2046291T>G	CA394297688	NTHL1	c.191A>C (p.Asp64Ala) c.146A>C (p.Asp49Ala) c.215A>C (p.Asp72Ala) c.111A>C c.154A>C c.162A>C c.13A>C (p.Thr5Pro)
16	g.2046292C>A	CA394297689	NTHL1	c.190G>T (p.Asp64Tyr) c.145G>T (p.Asp49Tyr) c.214G>T (p.Asp72Tyr) c.110G>T c.153G>T c.161G>T c.12G>T (p.Arg4=)	ClinVar
16	g.2046292C>G	CA394297691	NTHL1	c.190G>C (p.Asp64His) c.145G>C (p.Asp49His) c.214G>C (p.Asp72His) c.110G>C c.153G>C c.161G>C c.12G>C (p.Arg4=)	ClinVar dbSNP
16	g.2046292C>T	CA394297693	NTHL1	c.190G>A (p.Asp64Asn) c.145G>A (p.Asp49Asn) c.214G>A (p.Asp72Asn) c.110G>A c.153G>A c.161G>A c.12G>A (p.Arg4=)	gnomAD v4 COSMIC
16	g.2046293C>A	CA492953365	NTHL1	c.189G>T (p.Ser63=) c.144G>T (p.Ser48=) c.213G>T (p.Ser71=) c.109G>T c.152G>T c.160G>T c.11G>T (p.Arg4Leu)
16	g.2046293C=	CA2201986879	NTHL1	c.189G= (p.Ser63=) c.144G= (p.Ser48=) c.213G= (p.Ser71=) c.109G= c.152G= c.160G= c.11G= (p.Arg4=)
16	g.2046293C>G	CA7828343	NTHL1	c.189G>C (p.Ser63=) c.144G>C (p.Ser48=) c.213G>C (p.Ser71=) c.109G>C c.152G>C c.160G>C c.11G>C (p.Arg4Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046293C>T	CA7828344	NTHL1	c.189G>A (p.Ser63=) c.144G>A (p.Ser48=) c.213G>A (p.Ser71=) c.109G>A c.152G>A c.160G>A c.11G>A (p.Arg4Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046294G>A	CA7828345	NTHL1	c.188C>T (p.Ser63Leu) c.143C>T (p.Ser48Leu) c.212C>T (p.Ser71Leu) c.108C>T c.151C>T c.159C>T c.10C>T (p.Arg4Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2046294G>C	CA394297707	NTHL1	c.188C>G (p.Ser63Trp) c.143C>G (p.Ser48Trp) c.212C>G (p.Ser71Trp) c.108C>G c.151C>G c.159C>G c.10C>G (p.Arg4Gly)	ClinVar dbSNP gnomAD v4
16	g.2046294G=	CA2201986883	NTHL1	c.188C= (p.Ser63=) c.143C= (p.Ser48=) c.212C= (p.Ser71=) c.108C= c.151C= c.159C= c.10C= (p.Arg4=)
16	g.2046294G>T	CA394297703	NTHL1	c.188C>A (p.Ser63Ter) c.143C>A (p.Ser48Ter) c.212C>A (p.Ser71Ter) c.108C>A c.151C>A c.159C>A c.10C>A (p.Arg4=)
16	g.2046295A=	CA2201986888	NTHL1	c.187T= (p.Ser63=) c.142T= (p.Ser48=) c.211T= (p.Ser71=) c.107T= c.150T= c.158T= c.9T= (p.Ala3=)
16	g.2046295A>C	CA394297710	NTHL1	c.187T>G (p.Ser63Ala) c.142T>G (p.Ser48Ala) c.211T>G (p.Ser71Ala) c.107T>G c.150T>G c.158T>G c.9T>G (p.Ala3=)	ClinVar dbSNP
16	g.2046295A>G	CA394297711	NTHL1	c.187T>C (p.Ser63Pro) c.142T>C (p.Ser48Pro) c.211T>C (p.Ser71Pro) c.107T>C c.150T>C c.158T>C c.9T>C (p.Ala3=)
16	g.2046295A>T	CA394297713	NTHL1	c.187T>A (p.Ser63Thr) c.142T>A (p.Ser48Thr) c.211T>A (p.Ser71Thr) c.107T>A c.150T>A c.158T>A c.9T>A (p.Ala3=)
16	g.2046296G>A	CA276765674	NTHL1	c.186C>T (p.Gly62=) c.141C>T (p.Gly47=) c.210C>T (p.Gly70=) c.106C>T c.149C>T c.157C>T c.8C>T (p.Ala3Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046296G>C	CA492953369	NTHL1	c.186C>G (p.Gly62=) c.141C>G (p.Gly47=) c.210C>G (p.Gly70=) c.106C>G c.149C>G c.157C>G c.8C>G (p.Ala3Gly)	ClinVar dbSNP
16	g.2046296G=	CA2201986891	NTHL1	c.186C= (p.Gly62=) c.141C= (p.Gly47=) c.210C= (p.Gly70=) c.106C= c.149C= c.157C= c.8C= (p.Ala3=)
16	g.2046296G>T	CA492953370	NTHL1	c.186C>A (p.Gly62=) c.141C>A (p.Gly47=) c.210C>A (p.Gly70=) c.106C>A c.149C>A c.157C>A c.8C>A (p.Ala3Asp)
16	g.2046297C>A	CA394297715	NTHL1	c.185G>T (p.Gly62Val) c.140G>T (p.Gly47Val) c.209G>T (p.Gly70Val) c.105G>T c.148G>T c.156G>T c.7G>T (p.Ala3Ser)	dbSNP
16	g.2046297C>G	CA394297717	NTHL1	c.185G>C (p.Gly62Ala) c.140G>C (p.Gly47Ala) c.209G>C (p.Gly70Ala) c.105G>C c.148G>C c.156G>C c.7G>C (p.Ala3Pro)	COSMIC
16	g.2046297C>T	CA394297719	NTHL1	c.185G>A (p.Gly62Asp) c.140G>A (p.Gly47Asp) c.209G>A (p.Gly70Asp) c.105G>A c.148G>A c.156G>A c.7G>A (p.Ala3Thr)	dbSNP
16	g.2046299del	CA2580090651	NTHL1	c.185del (p.Gly62AlafsTer?) c.140del (p.Gly47AlafsTer?) c.209del (p.Gly70AlafsTer?) c.105del c.148del c.156del c.7del (p.Ala3LeufsTer4)	ClinVar
16	g.2046298C>A	CA394297722	NTHL1	c.184G>T (p.Gly62Cys) c.139G>T (p.Gly47Cys) c.208G>T (p.Gly70Cys) c.104G>T c.147G>T c.155G>T c.6G>T (p.Arg2Ser)
16	g.2046298C=	CA2201986897	NTHL1	c.184G= (p.Gly62=) c.139G= (p.Gly47=) c.208G= (p.Gly70=) c.104G= c.147G= c.155G= c.6G= (p.Arg2=)
16	g.2046298C>G	CA394297725	NTHL1	c.184G>C (p.Gly62Arg) c.139G>C (p.Gly47Arg) c.208G>C (p.Gly70Arg) c.104G>C c.147G>C c.155G>C c.6G>C (p.Arg2Ser)
16	g.2046298C>T	CA7828346	NTHL1	c.184G>A (p.Gly62Ser) c.139G>A (p.Gly47Ser) c.208G>A (p.Gly70Ser) c.104G>A c.147G>A c.155G>A c.6G>A (p.Arg2=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046299C>A	CA394297726	NTHL1	c.183G>T (p.Glu61Asp) c.138G>T (p.Glu46Asp) c.207G>T (p.Glu69Asp) c.103G>T c.146G>T c.154G>T c.5G>T (p.Arg2Met)
16	g.2046299C=	CA2201986901	NTHL1	c.183G= (p.Glu61=) c.138G= (p.Glu46=) c.207G= (p.Glu69=) c.103G= c.146G= c.154G= c.5G= (p.Arg2=)
16	g.2046299C>G	CA394297727	NTHL1	c.183G>C (p.Glu61Asp) c.138G>C (p.Glu46Asp) c.207G>C (p.Glu69Asp) c.103G>C c.146G>C c.154G>C c.5G>C (p.Arg2Thr)	ClinVar dbSNP
16	g.2046299C>T	CA492953371	NTHL1	c.183G>A (p.Glu61=) c.138G>A (p.Glu46=) c.207G>A (p.Glu69=) c.103G>A c.146G>A c.154G>A c.5G>A (p.Arg2Lys)	ClinVar dbSNP
16	g.2046300T>A	CA394297731	NTHL1	c.182A>T (p.Glu61Val) c.137A>T (p.Glu46Val) c.206A>T (p.Glu69Val) c.102A>T c.145A>T c.153A>T c.4A>T (p.Arg2Trp)	dbSNP
16	g.2046300T>C	CA394297734	NTHL1	c.182A>G (p.Glu61Gly) c.137A>G (p.Glu46Gly) c.206A>G (p.Glu69Gly) c.102A>G c.145A>G c.153A>G c.4A>G (p.Arg2Gly)	ClinVar dbSNP
16	g.2046300T>G	CA394297729	NTHL1	c.182A>C (p.Glu61Ala) c.137A>C (p.Glu46Ala) c.206A>C (p.Glu69Ala) c.102A>C c.145A>C c.153A>C c.4A>C (p.Arg2=)
16	g.2046300T=	CA2201986902	NTHL1	c.182A= (p.Glu61=) c.137A= (p.Glu46=) c.206A= (p.Glu69=) c.102A= c.145A= c.153A= c.4A= (p.Arg2=)
16	g.2046301C>A	CA394297737	NTHL1	c.181G>T (p.Glu61Ter) c.136G>T (p.Glu46Ter) c.205G>T (p.Glu69Ter) c.101G>T c.144G>T c.152G>T c.3G>T (p.Met1Ile)
16	g.2046301C=	CA2201986906	NTHL1	c.181G= (p.Glu61=) c.136G= (p.Glu46=) c.205G= (p.Glu69=) c.101G= c.144G= c.152G= c.3G= (p.Met1=)
16	g.2046301C>G	CA394297739	NTHL1	c.181G>C (p.Glu61Gln) c.136G>C (p.Glu46Gln) c.205G>C (p.Glu69Gln) c.101G>C c.144G>C c.152G>C c.3G>C (p.Met1Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046301C>T	CA394297743	NTHL1	c.181G>A (p.Glu61Lys) c.136G>A (p.Glu46Lys) c.205G>A (p.Glu69Lys) c.101G>A c.144G>A c.152G>A c.3G>A (p.Met1Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046302A>C	CA394297748	NTHL1	c.180T>G (p.Tyr60Ter) c.135T>G (p.Tyr45Ter) c.204T>G (p.Tyr68Ter) c.100T>G c.143T>G c.151T>G c.2T>G (p.Met1Arg)	gnomAD v4
16	g.2046302A>G	CA492953373	NTHL1	c.180T>C (p.Tyr60=) c.135T>C (p.Tyr45=) c.204T>C (p.Tyr68=) c.100T>C c.143T>C c.151T>C c.2T>C (p.Met1Thr)
16	g.2046302A>T	CA394297752	NTHL1	c.180T>A (p.Tyr60Ter) c.135T>A (p.Tyr45Ter) c.204T>A (p.Tyr68Ter) c.100T>A c.143T>A c.151T>A c.2T>A (p.Met1Lys)

Number of alleles fetched