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.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.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)
16	g.2046303T>A	CA394297771	NTHL1	c.179A>T (p.Tyr60Phe) c.134A>T (p.Tyr45Phe) c.203A>T (p.Tyr68Phe) c.99A>T c.142A>T c.150A>T c.1A>T (p.Met1Leu)
16	g.2046303T>C	CA7828347	NTHL1	c.179A>G (p.Tyr60Cys) c.134A>G (p.Tyr45Cys) c.203A>G (p.Tyr68Cys) c.99A>G c.142A>G c.150A>G c.1A>G (p.Met1Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2046303T>G	CA394297768	NTHL1	c.179A>C (p.Tyr60Ser) c.134A>C (p.Tyr45Ser) c.203A>C (p.Tyr68Ser) c.99A>C c.142A>C c.150A>C c.1A>C (p.Met1Leu)	ClinVar
16	g.2046303T=	CA2201986911	NTHL1	c.179A= (p.Tyr60=) c.134A= (p.Tyr45=) c.203A= (p.Tyr68=) c.99A= c.142A= c.150A= c.1A= (p.Met1=)
16	g.2046304A=	CA2201986913	NTHL1	c.178T= (p.Tyr60=) c.133T= (p.Tyr45=) c.202T= (p.Tyr68=) c.98T= c.141T= c.149T= c.-1T= (n.-1T=)
16	g.2046304A>C	CA394297776	NTHL1	c.178T>G (p.Tyr60Asp) c.133T>G (p.Tyr45Asp) c.202T>G (p.Tyr68Asp) c.98T>G c.141T>G c.149T>G c.-1T>G (n.-1T>G)
16	g.2046304A>G	CA394297780	NTHL1	c.178T>C (p.Tyr60His) c.133T>C (p.Tyr45His) c.202T>C (p.Tyr68His) c.98T>C c.141T>C c.149T>C c.-1T>C (n.-1T>C)	ClinVar dbSNP gnomAD v4
16	g.2046304A>T	CA394297790	NTHL1	c.178T>A (p.Tyr60Asn) c.133T>A (p.Tyr45Asn) c.202T>A (p.Tyr68Asn) c.98T>A c.141T>A c.149T>A c.-1T>A (n.-1T>A)
16	g.2046305G>A	CA492953374	NTHL1	c.177C>T (p.Ala59=) c.132C>T (p.Ala44=) c.201C>T (p.Ala67=) c.97C>T c.140C>T c.148C>T c.-2C>T (n.-2C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046305G>C	CA492953375	NTHL1	c.177C>G (p.Ala59=) c.132C>G (p.Ala44=) c.201C>G (p.Ala67=) c.97C>G c.140C>G c.148C>G c.-2C>G (n.-2C>G)
16	g.2046305G=	CA2201986916	NTHL1	c.177C= (p.Ala59=) c.132C= (p.Ala44=) c.201C= (p.Ala67=) c.97C= c.140C= c.148C= c.-2C= (n.-2C=)
16	g.2046305G>T	CA492953376	NTHL1	c.177C>A (p.Ala59=) c.132C>A (p.Ala44=) c.201C>A (p.Ala67=) c.97C>A c.140C>A c.148C>A c.-2C>A (n.-2C>A)	ClinVar dbSNP
16	g.2046306G>A	CA7828348	NTHL1	c.176C>T (p.Ala59Val) c.131C>T (p.Ala44Val) c.200C>T (p.Ala67Val) c.96C>T c.139C>T c.147C>T c.-3C>T (n.-3C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.2046306G>C	CA394297798	NTHL1	c.176C>G (p.Ala59Gly) c.131C>G (p.Ala44Gly) c.200C>G (p.Ala67Gly) c.96C>G c.139C>G c.147C>G c.-3C>G (n.-3C>G)
16	g.2046306G=	CA2201986918	NTHL1	c.176C= (p.Ala59=) c.131C= (p.Ala44=) c.200C= (p.Ala67=) c.96C= c.139C= c.147C= c.-3C= (n.-3C=)
16	g.2046306G>T	CA394297809	NTHL1	c.176C>A (p.Ala59Asp) c.131C>A (p.Ala44Asp) c.200C>A (p.Ala67Asp) c.96C>A c.139C>A c.147C>A c.-3C>A (n.-3C>A)	gnomAD v4
16	g.2046307C>A	CA394297815	NTHL1	c.175G>T (p.Ala59Ser) c.130G>T (p.Ala44Ser) c.199G>T (p.Ala67Ser) c.95G>T c.138G>T c.146G>T c.-4G>T (n.-4G>T)	dbSNP
16	g.2046307C=	CA2201986922	NTHL1	c.175G= (p.Ala59=) c.130G= (p.Ala44=) c.199G= (p.Ala67=) c.95G= c.138G= c.146G= c.-4G= (n.-4G=)
16	g.2046307C>G	CA394297818	NTHL1	c.175G>C (p.Ala59Pro) c.130G>C (p.Ala44Pro) c.199G>C (p.Ala67Pro) c.95G>C c.138G>C c.146G>C c.-4G>C (n.-4G>C)
16	g.2046307C>T	CA394297813	NTHL1	c.175G>A (p.Ala59Thr) c.130G>A (p.Ala44Thr) c.199G>A (p.Ala67Thr) c.95G>A c.138G>A c.146G>A c.-4G>A (n.-4G>A)	COSMIC
16	g.2046307_2046310del	CA2573151824	NTHL1	c.172_175del (p.Val58ProfsTer?) c.127_130del (p.Val43ProfsTer?) c.196_199del (p.Val66ProfsTer?) c.92_95del c.135_138del c.143_146del c.-7_-4del (n.-7_-4del)	ClinVar dbSNP
16	g.2046308C>A	CA492953377	NTHL1	c.174G>T (p.Val58=) c.129G>T (p.Val43=) c.198G>T (p.Val66=) c.94G>T c.137G>T c.145G>T c.-5G>T (n.-5G>T)	ClinVar dbSNP
16	g.2046308C=	CA2201986924	NTHL1	c.174G= (p.Val58=) c.129G= (p.Val43=) c.198G= (p.Val66=) c.94G= c.137G= c.145G= c.-5G= (n.-5G=)
16	g.2046308C>G	CA276765686	NTHL1	c.174G>C (p.Val58=) c.129G>C (p.Val43=) c.198G>C (p.Val66=) c.94G>C c.137G>C c.145G>C c.-5G>C (n.-5G>C)	dbSNP
16	g.2046308C>T	CA7828349	NTHL1	c.174G>A (p.Val58=) c.129G>A (p.Val43=) c.198G>A (p.Val66=) c.94G>A c.137G>A c.145G>A c.-5G>A (n.-5G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046309A=	CA2580582996	NTHL1	c.173T= (p.Val58=) c.128T= (p.Val43=) c.197T= (p.Val66=) c.93T= c.136T= c.144T= c.-6T= (n.-6T=)
16	g.2046309A>C	CA394297831	NTHL1	c.173T>G (p.Val58Gly) c.128T>G (p.Val43Gly) c.197T>G (p.Val66Gly) c.93T>G c.136T>G c.144T>G c.-6T>G (n.-6T>G)
16	g.2046309A>G	CA394297834	NTHL1	c.173T>C (p.Val58Ala) c.128T>C (p.Val43Ala) c.197T>C (p.Val66Ala) c.93T>C c.136T>C c.144T>C c.-6T>C (n.-6T>C)
16	g.2046309A>T	CA394297836	NTHL1	c.173T>A (p.Val58Glu) c.128T>A (p.Val43Glu) c.197T>A (p.Val66Glu) c.93T>A c.136T>A c.144T>A c.-6T>A (n.-6T>A)
16	g.2046310C>A	CA394297842	NTHL1	c.172G>T (p.Val58Leu) c.127G>T (p.Val43Leu) c.196G>T (p.Val66Leu) c.92G>T c.135G>T c.143G>T c.-7G>T (n.-7G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046310C=	CA2201986927	NTHL1	c.172G= (p.Val58=) c.127G= (p.Val43=) c.196G= (p.Val66=) c.92G= c.135G= c.143G= c.-7G= (n.-7G=)
16	g.2046310C>G	CA394297845	NTHL1	c.172G>C (p.Val58Leu) c.127G>C (p.Val43Leu) c.196G>C (p.Val66Leu) c.92G>C c.135G>C c.143G>C c.-7G>C (n.-7G>C)	dbSNP
16	g.2046310C>T	CA394297850	NTHL1	c.172G>A (p.Val58Met) c.127G>A (p.Val43Met) c.196G>A (p.Val66Met) c.92G>A c.135G>A c.143G>A c.-7G>A (n.-7G>A)	ClinVar dbSNP gnomAD v4
16	g.2046319_2046388del	CA2573151825	NTHL1	c.116-13_172del c.71-13_127del c.140-13_196del c.36-13_92del c.79-13_135del c.87-13_143del c.-63-13_-7del	ClinVar dbSNP gnomAD v4
16	g.2046311A>C	CA492953378	NTHL1	c.171T>G (p.Arg57=) c.126T>G (p.Arg42=) c.195T>G (p.Arg65=) c.91T>G c.134T>G c.142T>G c.-8T>G (n.-8T>G)
16	g.2046311A>G	CA492953379	NTHL1	c.171T>C (p.Arg57=) c.126T>C (p.Arg42=) c.195T>C (p.Arg65=) c.91T>C c.134T>C c.142T>C c.-8T>C (n.-8T>C)	ClinVar dbSNP
16	g.2046311A>T	CA492953381	NTHL1	c.171T>A (p.Arg57=) c.126T>A (p.Arg42=) c.195T>A (p.Arg65=) c.91T>A c.134T>A c.142T>A c.-8T>A (n.-8T>A)
16	g.2046312C>A	CA7828351	NTHL1	c.170G>T (p.Arg57Leu) c.125G>T (p.Arg42Leu) c.194G>T (p.Arg65Leu) c.90G>T c.133G>T c.141G>T c.-9G>T (n.-9G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2046312C=	CA2201986932	NTHL1	c.170G= (p.Arg57=) c.125G= (p.Arg42=) c.194G= (p.Arg65=) c.90G= c.133G= c.141G= c.-9G= (n.-9G=)
16	g.2046312C>G	CA394297855	NTHL1	c.170G>C (p.Arg57Pro) c.125G>C (p.Arg42Pro) c.194G>C (p.Arg65Pro) c.90G>C c.133G>C c.141G>C c.-9G>C (n.-9G>C)	ClinVar dbSNP gnomAD v4
16	g.2046312C>T	CA7828350	NTHL1	c.170G>A (p.Arg57His) c.125G>A (p.Arg42His) c.194G>A (p.Arg65His) c.90G>A c.133G>A c.141G>A c.-9G>A (n.-9G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2046313G>A	CA7828352	NTHL1	c.169C>T (p.Arg57Cys) c.124C>T (p.Arg42Cys) c.193C>T (p.Arg65Cys) c.89C>T c.132C>T c.140C>T c.-10C>T (n.-10C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2046313G>C	CA394297881	NTHL1	c.169C>G (p.Arg57Gly) c.124C>G (p.Arg42Gly) c.193C>G (p.Arg65Gly) c.89C>G c.132C>G c.140C>G c.-10C>G (n.-10C>G)
16	g.2046313G=	CA2201986939	NTHL1	c.169C= (p.Arg57=) c.124C= (p.Arg42=) c.193C= (p.Arg65=) c.89C= c.132C= c.140C= c.-10C= (n.-10C=)
16	g.2046313G>T	CA394297884	NTHL1	c.169C>A (p.Arg57Ser) c.124C>A (p.Arg42Ser) c.193C>A (p.Arg65Ser) c.89C>A c.132C>A c.140C>A c.-10C>A (n.-10C>A)
16	g.2046314C>A	CA492953384	NTHL1	c.168G>T (p.Leu56=) c.123G>T (p.Leu41=) c.192G>T (p.Leu64=) c.88G>T c.131G>T c.139G>T c.-11G>T (n.-11G>T)
16	g.2046314C>G	CA492953385	NTHL1	c.168G>C (p.Leu56=) c.123G>C (p.Leu41=) c.192G>C (p.Leu64=) c.88G>C c.131G>C c.139G>C c.-11G>C (n.-11G>C)
16	g.2046314C>T	CA492953386	NTHL1	c.168G>A (p.Leu56=) c.123G>A (p.Leu41=) c.192G>A (p.Leu64=) c.88G>A c.131G>A c.139G>A c.-11G>A (n.-11G>A)	ClinVar dbSNP
16	g.2046314_2046315del	CA2739269873	NTHL1	c.167_168del (p.Leu56ProfsTer5) c.122_123del (p.Leu41ProfsTer5) c.191_192del (p.Leu64ProfsTer5) c.87_88del c.130_131del c.138_139del c.-12_-11del (n.-12_-11del)	ClinVar
16	g.2046315A=	CA2201986943	NTHL1	c.167T= (p.Leu56=) c.122T= (p.Leu41=) c.191T= (p.Leu64=) c.87T= c.130T= c.138T= c.-12T= (n.-12T=)
16	g.2046315A>C	CA394297895	NTHL1	c.167T>G (p.Leu56Arg) c.122T>G (p.Leu41Arg) c.191T>G (p.Leu64Arg) c.87T>G c.130T>G c.138T>G c.-12T>G (n.-12T>G)
16	g.2046315A>G	CA394297890	NTHL1	c.167T>C (p.Leu56Pro) c.122T>C (p.Leu41Pro) c.191T>C (p.Leu64Pro) c.87T>C c.130T>C c.138T>C c.-12T>C (n.-12T>C)	ClinVar dbSNP
16	g.2046315A>T	CA394297887	NTHL1	c.167T>A (p.Leu56Gln) c.122T>A (p.Leu41Gln) c.191T>A (p.Leu64Gln) c.87T>A c.130T>A c.138T>A c.-12T>A (n.-12T>A)
16	g.2046316G>A	CA492953387	NTHL1	c.166C>T (p.Leu56=) c.121C>T (p.Leu41=) c.190C>T (p.Leu64=) c.86C>T c.129C>T c.137C>T c.-13C>T (n.-13C>T)
16	g.2046316G>C	CA394297899	NTHL1	c.166C>G (p.Leu56Val) c.121C>G (p.Leu41Val) c.190C>G (p.Leu64Val) c.86C>G c.129C>G c.137C>G c.-13C>G (n.-13C>G)
16	g.2046316G>T	CA394297901	NTHL1	c.166C>A (p.Leu56Met) c.121C>A (p.Leu41Met) c.190C>A (p.Leu64Met) c.86C>A c.129C>A c.137C>A c.-13C>A (n.-13C>A)
16	g.2046316_2046318delinsGTC	CA2201986946	NTHL1	c.164_166delinsGAC (p.Arg55=) c.119_121delinsGAC (p.Arg40=) c.188_190delinsGAC (p.Arg63=) c.84_86delinsGAC c.127_129delinsGAC c.135_137delinsGAC c.-15_-13delinsGAC (n.-15_-13delinsGAC)
16	g.2046317T>A	CA394297905	NTHL1	c.165A>T (p.Arg55Ser) c.120A>T (p.Arg40Ser) c.189A>T (p.Arg63Ser) c.85A>T c.128A>T c.136A>T c.-14A>T (n.-14A>T)	ClinVar
16	g.2046317T>C	CA492953389	NTHL1	c.165A>G (p.Arg55=) c.120A>G (p.Arg40=) c.189A>G (p.Arg63=) c.85A>G c.128A>G c.136A>G c.-14A>G (n.-14A>G)
16	g.2046317T>G	CA394297908	NTHL1	c.165A>C (p.Arg55Ser) c.120A>C (p.Arg40Ser) c.189A>C (p.Arg63Ser) c.85A>C c.128A>C c.136A>C c.-14A>C (n.-14A>C)
16	g.2046320_2046321del	CA620704676	NTHL1	c.164_165del (p.Arg55ThrfsTer6) c.119_120del (p.Arg40ThrfsTer6) c.188_189del (p.Arg63ThrfsTer6) c.84_85del c.127_128del c.135_136del c.-15_-14del (n.-15_-14del)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2046318C>A	CA394297913	NTHL1	c.164G>T (p.Arg55Ile) c.119G>T (p.Arg40Ile) c.188G>T (p.Arg63Ile) c.84G>T c.127G>T c.135G>T c.-15G>T (n.-15G>T)
16	g.2046318C>G	CA394297915	NTHL1	c.164G>C (p.Arg55Thr) c.119G>C (p.Arg40Thr) c.188G>C (p.Arg63Thr) c.84G>C c.127G>C c.135G>C c.-15G>C (n.-15G>C)
16	g.2046318C>T	CA394297916	NTHL1	c.164G>A (p.Arg55Lys) c.119G>A (p.Arg40Lys) c.188G>A (p.Arg63Lys) c.84G>A c.127G>A c.135G>A c.-15G>A (n.-15G>A)
16	g.2046319T>A	CA394297917	NTHL1	c.163A>T (p.Arg55Ter) c.118A>T (p.Arg40Ter) c.187A>T (p.Arg63Ter) c.83A>T c.126A>T c.134A>T c.-16A>T (n.-16A>T)
16	g.2046319T>C	CA394297919	NTHL1	c.163A>G (p.Arg55Gly) c.118A>G (p.Arg40Gly) c.187A>G (p.Arg63Gly) c.83A>G c.126A>G c.134A>G c.-16A>G (n.-16A>G)	dbSNP
16	g.2046319T>G	CA492953392	NTHL1	c.163A>C (p.Arg55=) c.118A>C (p.Arg40=) c.187A>C (p.Arg63=) c.83A>C c.126A>C c.134A>C c.-16A>C (n.-16A>C)	dbSNP
16	g.2046319T=	CA2201986951	NTHL1	c.163A= (p.Arg55=) c.118A= (p.Arg40=) c.187A= (p.Arg63=) c.83A= c.126A= c.134A= c.-16A= (n.-16A=)
16	g.2046320C>A	CA394297921	NTHL1	c.162G>T (p.Gln54His) c.117G>T (p.Gln39His) c.186G>T (p.Gln62His) c.82G>T c.125G>T c.133G>T c.-17G>T (n.-17G>T)	ClinVar
16	g.2046320C>G	CA394297923	NTHL1	c.162G>C (p.Gln54His) c.117G>C (p.Gln39His) c.186G>C (p.Gln62His) c.82G>C c.125G>C c.133G>C c.-17G>C (n.-17G>C)
16	g.2046320C>T	CA492953393	NTHL1	c.162G>A (p.Gln54=) c.117G>A (p.Gln39=) c.186G>A (p.Gln62=) c.82G>A c.125G>A c.133G>A c.-17G>A (n.-17G>A)
16	g.2046321T>A	CA394297927	NTHL1	c.161A>T (p.Gln54Leu) c.116A>T (p.Gln39Leu) c.185A>T (p.Gln62Leu) c.81A>T c.124A>T c.132A>T c.-18A>T (n.-18A>T)
16	g.2046321T>C	CA394297928	NTHL1	c.161A>G (p.Gln54Arg) c.116A>G (p.Gln39Arg) c.185A>G (p.Gln62Arg) c.81A>G c.124A>G c.132A>G c.-18A>G (n.-18A>G)
16	g.2046321T>G	CA394297930	NTHL1	c.161A>C (p.Gln54Pro) c.116A>C (p.Gln39Pro) c.185A>C (p.Gln62Pro) c.81A>C c.124A>C c.132A>C c.-18A>C (n.-18A>C)
16	g.2046321dup	CA2499223263	NTHL1	c.161dup (p.Arg55GlufsTer7) c.116dup (p.Arg40GlufsTer7) c.185dup (p.Arg63GlufsTer7) c.81dup c.124dup c.132dup c.-18dup (n.-18dup)	ClinVar dbSNP
16	g.2046323_2046324del	CA2580612698	NTHL1	c.160_161del (p.Gln54GlufsTer7) c.115_116del (p.Gln39GlufsTer7) c.184_185del (p.Gln62GlufsTer7) c.80_81del c.123_124del c.131_132del c.-19_-18del (n.-19_-18del)	ClinVar dbSNP gnomAD v4
16	g.2046322G>A	CA394297934	NTHL1	c.160C>T (p.Gln54Ter) c.115C>T (p.Gln39Ter) c.184C>T (p.Gln62Ter) c.80C>T c.123C>T c.131C>T c.-19C>T (n.-19C>T)	ClinVar dbSNP gnomAD v4
16	g.2046322G>C	CA394297935	NTHL1	c.160C>G (p.Gln54Glu) c.115C>G (p.Gln39Glu) c.184C>G (p.Gln62Glu) c.80C>G c.123C>G c.131C>G c.-19C>G (n.-19C>G)
16	g.2046322G=	CA2201986955	NTHL1	c.160C= (p.Gln54=) c.115C= (p.Gln39=) c.184C= (p.Gln62=) c.80C= c.123C= c.131C= c.-19C= (n.-19C=)
16	g.2046322G>T	CA394297933	NTHL1	c.160C>A (p.Gln54Lys) c.115C>A (p.Gln39Lys) c.184C>A (p.Gln62Lys) c.80C>A c.123C>A c.131C>A c.-19C>A (n.-19C>A)
16	g.2046323T>A	CA492953396	NTHL1	c.159A>T (p.Ala53=) c.114A>T (p.Ala38=) c.183A>T (p.Ala61=) c.79A>T c.122A>T c.130A>T c.-20A>T (n.-20A>T)
16	g.2046323T>C	CA492953395	NTHL1	c.159A>G (p.Ala53=) c.114A>G (p.Ala38=) c.183A>G (p.Ala61=) c.79A>G c.122A>G c.130A>G c.-20A>G (n.-20A>G)	ClinVar dbSNP
16	g.2046323T>G	CA492953397	NTHL1	c.159A>C (p.Ala53=) c.114A>C (p.Ala38=) c.183A>C (p.Ala61=) c.79A>C c.122A>C c.130A>C c.-20A>C (n.-20A>C)
16	g.2046324G>A	CA394297936	NTHL1	c.158C>T (p.Ala53Val) c.113C>T (p.Ala38Val) c.182C>T (p.Ala61Val) c.78C>T c.121C>T c.129C>T c.-21C>T (n.-21C>T)	dbSNP
16	g.2046324G>C	CA394297937	NTHL1	c.158C>G (p.Ala53Gly) c.113C>G (p.Ala38Gly) c.182C>G (p.Ala61Gly) c.78C>G c.121C>G c.129C>G c.-21C>G (n.-21C>G)
16	g.2046324G>T	CA394297939	NTHL1	c.158C>A (p.Ala53Glu) c.113C>A (p.Ala38Glu) c.182C>A (p.Ala61Glu) c.78C>A c.121C>A c.129C>A c.-21C>A (n.-21C>A)
16	g.2046325C>A	CA394297942	NTHL1	c.157G>T (p.Ala53Ser) c.112G>T (p.Ala38Ser) c.181G>T (p.Ala61Ser) c.77G>T c.120G>T c.128G>T c.-22G>T (n.-22G>T)
16	g.2046325C>G	CA394297943	NTHL1	c.157G>C (p.Ala53Pro) c.112G>C (p.Ala38Pro) c.181G>C (p.Ala61Pro) c.77G>C c.120G>C c.128G>C c.-22G>C (n.-22G>C)	ClinVar
16	g.2046325C>T	CA394297944	NTHL1	c.157G>A (p.Ala53Thr) c.112G>A (p.Ala38Thr) c.181G>A (p.Ala61Thr) c.77G>A c.120G>A c.128G>A c.-22G>A (n.-22G>A)	dbSNP
16	g.2046326T>A	CA394297948	NTHL1	c.156A>T (p.Lys52Asn) c.111A>T (p.Lys37Asn) c.180A>T (p.Lys60Asn) c.76A>T c.119A>T c.127A>T c.-23A>T (n.-23A>T)
16	g.2046326T>C	CA492953398	NTHL1	c.156A>G (p.Lys52=) c.111A>G (p.Lys37=) c.180A>G (p.Lys60=) c.76A>G c.119A>G c.127A>G c.-23A>G (n.-23A>G)	ClinVar dbSNP gnomAD v4
16	g.2046326T>G	CA394297946	NTHL1	c.156A>C (p.Lys52Asn) c.111A>C (p.Lys37Asn) c.180A>C (p.Lys60Asn) c.76A>C c.119A>C c.127A>C c.-23A>C (n.-23A>C)	ClinVar
16	g.2046327T>A	CA394297949	NTHL1	c.155A>T (p.Lys52Ile) c.110A>T (p.Lys37Ile) c.179A>T (p.Lys60Ile) c.75A>T c.118A>T c.126A>T c.-24A>T (n.-24A>T)	ClinVar dbSNP
16	g.2046327T>C	CA394297950	NTHL1	c.155A>G (p.Lys52Arg) c.110A>G (p.Lys37Arg) c.179A>G (p.Lys60Arg) c.75A>G c.118A>G c.126A>G c.-24A>G (n.-24A>G)
16	g.2046327T>G	CA394297952	NTHL1	c.155A>C (p.Lys52Thr) c.110A>C (p.Lys37Thr) c.179A>C (p.Lys60Thr) c.75A>C c.118A>C c.126A>C c.-24A>C (n.-24A>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2046327T=	CA2201986956	NTHL1	c.155A= (p.Lys52=) c.110A= (p.Lys37=) c.179A= (p.Lys60=) c.75A= c.118A= c.126A= c.-24A= (n.-24A=)
16	g.2046328T>A	CA394297953	NTHL1	c.154A>T (p.Lys52Ter) c.109A>T (p.Lys37Ter) c.178A>T (p.Lys60Ter) c.74A>T c.117A>T c.125A>T c.-25A>T (n.-25A>T)
16	g.2046328T>C	CA394297954	NTHL1	c.154A>G (p.Lys52Glu) c.109A>G (p.Lys37Glu) c.178A>G (p.Lys60Glu) c.74A>G c.117A>G c.125A>G c.-25A>G (n.-25A>G)
16	g.2046328T>G	CA394297955	NTHL1	c.154A>C (p.Lys52Gln) c.109A>C (p.Lys37Gln) c.178A>C (p.Lys60Gln) c.74A>C c.117A>C c.125A>C c.-25A>C (n.-25A>C)

Number of alleles fetched