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.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.2046274_2046275dup | CA2832567253 | NTHL1 | c.210_211dup (p.Ala71GlyfsTer25) c.165_166dup (p.Ala56GlyfsTer25) c.234_235dup (p.Ala79GlyfsTer25) c.130_131dup c.173_174dup c.173+8_173+9dup c.24+8_24+9dup (n.24+8_24+9dup) | |
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.2046280dup | CA2838202801 | NTHL1 | c.203dup (p.Glu69Ter) c.158dup (p.Glu54Ter) c.227dup (p.Glu77Ter) c.123dup c.166dup c.173+1dup c.24+1dup | |
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.2046283dup | CA2838197112 | NTHL1 | c.201dup (p.Gly68ArgfsTer2) c.156dup (p.Gly53ArgfsTer2) c.225dup (p.Gly76ArgfsTer2) c.121dup c.164dup c.172dup c.23dup (p.Val9GlyfsTer?) | |
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.2046300dup | CA2839495748 | NTHL1 | c.182dup (p.Ser63LeufsTer4) c.137dup (p.Ser48LeufsTer4) c.206dup (p.Ser71LeufsTer4) c.102dup c.145dup c.153dup c.4dup (p.Arg2LysfsTer?) | |
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) |