Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2046116del | CA656219763 | NTHL1 | c.63+15del (n.63+15del) c.354+15del (n.354+15del) c.309+15del (n.309+15del) c.378+15del (n.378+15del) c.274+15del n.87+15del c.317+15del c.173+167del c.24+167del (n.24+167del) | dbSNP gnomAD v4 COSMIC |
16 | g.2046115G>A | CA620372574 | NTHL1 | c.63+13C>T (n.63+13C>T) c.354+13C>T (n.354+13C>T) c.309+13C>T (n.309+13C>T) c.378+13C>T (n.378+13C>T) c.274+13C>T n.87+13C>T c.317+13C>T c.173+165C>T c.24+165C>T (n.24+165C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2046115G= | CA2202016944 | NTHL1 | c.63+13C= (n.63+13C=) c.354+13C= (n.354+13C=) c.309+13C= (n.309+13C=) c.378+13C= (n.378+13C=) c.274+13C= n.87+13C= c.317+13C= c.173+165C= c.24+165C= (n.24+165C=) | |
16 | g.2046116G>A | CA7828307 | NTHL1 | c.63+12C>T (n.63+12C>T) c.354+12C>T (n.354+12C>T) c.309+12C>T (n.309+12C>T) c.378+12C>T (n.378+12C>T) c.274+12C>T n.87+12C>T c.317+12C>T c.173+164C>T c.24+164C>T (n.24+164C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046116G= | CA2202016945 | NTHL1 | c.63+12C= (n.63+12C=) c.354+12C= (n.354+12C=) c.309+12C= (n.309+12C=) c.378+12C= (n.378+12C=) c.274+12C= n.87+12C= c.317+12C= c.173+164C= c.24+164C= (n.24+164C=) | |
16 | g.2046116G>T | CA2739269903 | NTHL1 | c.63+12C>A (n.63+12C>A) c.354+12C>A (n.354+12C>A) c.309+12C>A (n.309+12C>A) c.378+12C>A (n.378+12C>A) c.274+12C>A n.87+12C>A c.317+12C>A c.173+164C>A c.24+164C>A (n.24+164C>A) | ClinVar |
16 | g.2046117C>A | CA2840295198 | NTHL1 | c.63+11G>T (n.63+11G>T) c.354+11G>T (n.354+11G>T) c.309+11G>T (n.309+11G>T) c.378+11G>T (n.378+11G>T) c.274+11G>T n.87+11G>T c.317+11G>T c.173+163G>T c.24+163G>T (n.24+163G>T) | |
16 | g.2046117C= | CA2202016946 | NTHL1 | c.63+11G= (n.63+11G=) c.354+11G= (n.354+11G=) c.309+11G= (n.309+11G=) c.378+11G= (n.378+11G=) c.274+11G= n.87+11G= c.317+11G= c.173+163G= c.24+163G= (n.24+163G=) | |
16 | g.2046117C>G | CA2573151808 | NTHL1 | c.63+11G>C (n.63+11G>C) c.354+11G>C (n.354+11G>C) c.309+11G>C (n.309+11G>C) c.378+11G>C (n.378+11G>C) c.274+11G>C n.87+11G>C c.317+11G>C c.173+163G>C c.24+163G>C (n.24+163G>C) | ClinVar dbSNP |
16 | g.2046117C>T | CA2202016947 | NTHL1 | c.63+11G>A (n.63+11G>A) c.354+11G>A (n.354+11G>A) c.309+11G>A (n.309+11G>A) c.378+11G>A (n.378+11G>A) c.274+11G>A n.87+11G>A c.317+11G>A c.173+163G>A c.24+163G>A (n.24+163G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.2046118C>A | CA2631108470 | NTHL1 | c.63+10G>T (n.63+10G>T) c.354+10G>T (n.354+10G>T) c.309+10G>T (n.309+10G>T) c.378+10G>T (n.378+10G>T) c.274+10G>T n.87+10G>T c.317+10G>T c.173+162G>T c.24+162G>T (n.24+162G>T) | gnomAD v4 |
16 | g.2046119C>A | CA2840295199 | NTHL1 | c.63+9G>T (n.63+9G>T) c.354+9G>T (n.354+9G>T) c.309+9G>T (n.309+9G>T) c.378+9G>T (n.378+9G>T) c.274+9G>T n.87+9G>T c.317+9G>T c.173+161G>T c.24+161G>T (n.24+161G>T) | |
16 | g.2046119C>G | CA2573151809 | NTHL1 | c.63+9G>C (n.63+9G>C) c.354+9G>C (n.354+9G>C) c.309+9G>C (n.309+9G>C) c.378+9G>C (n.378+9G>C) c.274+9G>C n.87+9G>C c.317+9G>C c.173+161G>C c.24+161G>C (n.24+161G>C) | ClinVar dbSNP |
16 | g.2046120C>A | CA2731825198 | NTHL1 | c.63+8G>T (n.63+8G>T) c.354+8G>T (n.354+8G>T) c.309+8G>T (n.309+8G>T) c.378+8G>T (n.378+8G>T) c.274+8G>T n.87+8G>T c.317+8G>T c.173+160G>T c.24+160G>T (n.24+160G>T) | dbSNP |
16 | g.2046120C>T | CA2573151810 | NTHL1 | c.63+8G>A (n.63+8G>A) c.354+8G>A (n.354+8G>A) c.309+8G>A (n.309+8G>A) c.378+8G>A (n.378+8G>A) c.274+8G>A n.87+8G>A c.317+8G>A c.173+160G>A c.24+160G>A (n.24+160G>A) | ClinVar dbSNP |
16 | g.2046121T>A | CA2582342636 | NTHL1 | c.63+7A>T (n.63+7A>T) c.354+7A>T (n.354+7A>T) c.309+7A>T (n.309+7A>T) c.378+7A>T (n.378+7A>T) c.274+7A>T n.87+7A>T c.317+7A>T c.173+159A>T c.24+159A>T (n.24+159A>T) | ClinVar |
16 | g.2046123C>A | CA2631108474 | NTHL1 | c.63+5G>T (n.63+5G>T) c.354+5G>T (n.354+5G>T) c.309+5G>T (n.309+5G>T) c.378+5G>T (n.378+5G>T) c.274+5G>T n.87+5G>T c.317+5G>T c.173+157G>T c.24+157G>T (n.24+157G>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2046123C= | CA2202016948 | NTHL1 | c.63+5G= (n.63+5G=) c.354+5G= (n.354+5G=) c.309+5G= (n.309+5G=) c.378+5G= (n.378+5G=) c.274+5G= n.87+5G= c.317+5G= c.173+157G= c.24+157G= (n.24+157G=) | |
16 | g.2046123C>G | CA2580090623 | NTHL1 | c.63+5G>C (n.63+5G>C) c.354+5G>C (n.354+5G>C) c.309+5G>C (n.309+5G>C) c.378+5G>C (n.378+5G>C) c.274+5G>C n.87+5G>C c.317+5G>C c.173+157G>C c.24+157G>C (n.24+157G>C) | ClinVar |
16 | g.2046123C>T | CA1139664237 | NTHL1 | c.63+5G>A (n.63+5G>A) c.354+5G>A (n.354+5G>A) c.309+5G>A (n.309+5G>A) c.378+5G>A (n.378+5G>A) c.274+5G>A n.87+5G>A c.317+5G>A c.173+157G>A c.24+157G>A (n.24+157G>A) | ClinVar dbSNP |
16 | g.2046124C>A | CA7828308 | NTHL1 | c.63+4G>T (n.63+4G>T) c.354+4G>T (n.354+4G>T) c.309+4G>T (n.309+4G>T) c.378+4G>T (n.378+4G>T) c.274+4G>T n.87+4G>T c.317+4G>T c.173+156G>T c.24+156G>T (n.24+156G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046124C= | CA2202016950 | NTHL1 | c.63+4G= (n.63+4G=) c.354+4G= (n.354+4G=) c.309+4G= (n.309+4G=) c.378+4G= (n.378+4G=) c.274+4G= n.87+4G= c.317+4G= c.173+156G= c.24+156G= (n.24+156G=) | |
16 | g.2046124C>G | CA2202016949 | NTHL1 | c.63+4G>C (n.63+4G>C) c.354+4G>C (n.354+4G>C) c.309+4G>C (n.309+4G>C) c.378+4G>C (n.378+4G>C) c.274+4G>C n.87+4G>C c.317+4G>C c.173+156G>C c.24+156G>C (n.24+156G>C) | ClinVar dbSNP gnomAD v4 |
16 | g.2046124C>T | CA2631108481 | NTHL1 | c.63+4G>A (n.63+4G>A) c.354+4G>A (n.354+4G>A) c.309+4G>A (n.309+4G>A) c.378+4G>A (n.378+4G>A) c.274+4G>A n.87+4G>A c.317+4G>A c.173+156G>A c.24+156G>A (n.24+156G>A) | gnomAD v4 |
16 | g.2046126A= | CA2202016951 | NTHL1 | c.63+2T= (n.63+2T=) c.354+2T= (n.354+2T=) c.309+2T= (n.309+2T=) c.378+2T= (n.378+2T=) c.274+2T= n.87+2T= c.317+2T= c.173+154T= c.24+154T= (n.24+154T=) | |
16 | g.2046126A>C | CA394295017 | NTHL1 | c.63+2T>G (n.63+2T>G) c.354+2T>G (n.354+2T>G) c.309+2T>G (n.309+2T>G) c.378+2T>G (n.378+2T>G) c.274+2T>G n.87+2T>G c.317+2T>G c.173+154T>G c.24+154T>G (n.24+154T>G) | |
16 | g.2046126A>G | CA394295013 | NTHL1 | c.63+2T>C (n.63+2T>C) c.354+2T>C (n.354+2T>C) c.309+2T>C (n.309+2T>C) c.378+2T>C (n.378+2T>C) c.274+2T>C n.87+2T>C c.317+2T>C c.173+154T>C c.24+154T>C (n.24+154T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2046126A>T | CA394295020 | NTHL1 | c.63+2T>A (n.63+2T>A) c.354+2T>A (n.354+2T>A) c.309+2T>A (n.309+2T>A) c.378+2T>A (n.378+2T>A) c.274+2T>A n.87+2T>A c.317+2T>A c.173+154T>A c.24+154T>A (n.24+154T>A) | |
16 | g.2046127C>A | CA394295021 | NTHL1 | c.63+1G>T (n.63+1G>T) c.354+1G>T (n.354+1G>T) c.309+1G>T (n.309+1G>T) c.378+1G>T (n.378+1G>T) c.274+1G>T n.87+1G>T c.317+1G>T c.173+153G>T c.24+153G>T (n.24+153G>T) | |
16 | g.2046127C= | CA2202016952 | NTHL1 | c.63+1G= (n.63+1G=) c.354+1G= (n.354+1G=) c.309+1G= (n.309+1G=) c.378+1G= (n.378+1G=) c.274+1G= n.87+1G= c.317+1G= c.173+153G= c.24+153G= (n.24+153G=) | |
16 | g.2046127C>G | CA394295022 | NTHL1 | c.63+1G>C (n.63+1G>C) c.354+1G>C (n.354+1G>C) c.309+1G>C (n.309+1G>C) c.378+1G>C (n.378+1G>C) c.274+1G>C n.87+1G>C c.317+1G>C c.173+153G>C c.24+153G>C (n.24+153G>C) | |
16 | g.2046127C>T | CA394295023 | NTHL1 | c.63+1G>A (n.63+1G>A) c.354+1G>A (n.354+1G>A) c.309+1G>A (n.309+1G>A) c.378+1G>A (n.378+1G>A) c.274+1G>A n.87+1G>A c.317+1G>A c.173+153G>A c.24+153G>A (n.24+153G>A) | ClinVar dbSNP |
16 | g.2046128C>A | CA394295024 | NTHL1 | c.63G>T (p.Lys21Asn) c.354G>T (p.Lys118Asn) c.309G>T (p.Lys103Asn) c.378G>T (p.Lys126Asn) c.274G>T n.87G>T c.317G>T c.173+152G>T c.24+152G>T (n.24+152G>T) | |
16 | g.2046128C>G | CA394295027 | NTHL1 | c.63G>C (p.Lys21Asn) c.354G>C (p.Lys118Asn) c.309G>C (p.Lys103Asn) c.378G>C (p.Lys126Asn) c.274G>C n.87G>C c.317G>C c.173+152G>C c.24+152G>C (n.24+152G>C) | |
16 | g.2046128C>T | CA492953169 | NTHL1 | c.63G>A (p.Lys21=) c.354G>A (p.Lys118=) c.309G>A (p.Lys103=) c.378G>A (p.Lys126=) c.274G>A n.87G>A c.317G>A c.173+152G>A c.24+152G>A (n.24+152G>A) | ClinVar |
16 | g.2046129T>A | CA394295028 | NTHL1 | c.62A>T (p.Lys21Met) c.353A>T (p.Lys118Met) c.308A>T (p.Lys103Met) c.377A>T (p.Lys126Met) c.273A>T n.86A>T c.316A>T c.173+151A>T c.24+151A>T (n.24+151A>T) | ClinVar dbSNP |
16 | g.2046129T>C | CA394295029 | NTHL1 | c.62A>G (p.Lys21Arg) c.353A>G (p.Lys118Arg) c.308A>G (p.Lys103Arg) c.377A>G (p.Lys126Arg) c.273A>G n.86A>G c.316A>G c.173+151A>G c.24+151A>G (n.24+151A>G) | |
16 | g.2046129T>G | CA394295031 | NTHL1 | c.62A>C (p.Lys21Thr) c.353A>C (p.Lys118Thr) c.308A>C (p.Lys103Thr) c.377A>C (p.Lys126Thr) c.273A>C n.86A>C c.316A>C c.173+151A>C c.24+151A>C (n.24+151A>C) | |
16 | g.2046129T= | CA2202016953 | NTHL1 | c.62A= (p.Lys21=) c.353A= (p.Lys118=) c.308A= (p.Lys103=) c.377A= (p.Lys126=) c.273A= n.86A= c.316A= c.173+151A= c.24+151A= (n.24+151A=) | |
16 | g.2046131dup | CA2695197407 | NTHL1 | c.62dup (p.Val22GlyfsTer?) c.353dup (p.Val119GlyfsTer?) c.308dup (p.Ser104GlufsTer?) c.377dup (p.Val127GlyfsTer?) c.273dup n.86dup c.316dup c.173+151dup c.377dup (p.Ser127GlufsTer?) c.24+151dup (n.24+151dup) c.353dup (p.Ser119GlufsTer?) | ClinVar |
16 | g.2046131del | CA2840295200 | NTHL1 | c.62del (p.Lys21ArgfsTer11) c.353del (p.Lys118ArgfsTer11) c.308del (p.Lys103ArgfsTer4) c.377del (p.Lys126ArgfsTer11) c.273del n.86del c.316del c.173+151del c.377del (p.Lys126ArgfsTer4) c.24+151del (n.24+151del) c.353del (p.Lys118ArgfsTer4) | |
16 | g.2046130T>A | CA394295036 | NTHL1 | c.61A>T (p.Lys21Ter) c.352A>T (p.Lys118Ter) c.307A>T (p.Lys103Ter) c.376A>T (p.Lys126Ter) c.272A>T n.85A>T c.315A>T c.173+150A>T c.24+150A>T (n.24+150A>T) | |
16 | g.2046130T>C | CA394295038 | NTHL1 | c.61A>G (p.Lys21Glu) c.352A>G (p.Lys118Glu) c.307A>G (p.Lys103Glu) c.376A>G (p.Lys126Glu) c.272A>G n.85A>G c.315A>G c.173+150A>G c.24+150A>G (n.24+150A>G) | ClinVar dbSNP |
16 | g.2046130T>G | CA394295040 | NTHL1 | c.61A>C (p.Lys21Gln) c.352A>C (p.Lys118Gln) c.307A>C (p.Lys103Gln) c.376A>C (p.Lys126Gln) c.272A>C n.85A>C c.315A>C c.173+150A>C c.24+150A>C (n.24+150A>C) | |
16 | g.2046130T= | CA2202016954 | NTHL1 | c.61A= (p.Lys21=) c.352A= (p.Lys118=) c.307A= (p.Lys103=) c.376A= (p.Lys126=) c.272A= n.85A= c.315A= c.173+150A= c.24+150A= (n.24+150A=) | |
16 | g.2046131T>A | CA492953176 | NTHL1 | c.60A>T (p.Pro20=) c.351A>T (p.Pro117=) c.306A>T (p.Pro102=) c.375A>T (p.Pro125=) c.271A>T n.84A>T c.314A>T c.173+149A>T c.24+149A>T (n.24+149A>T) | |
16 | g.2046131T>C | CA492953174 | NTHL1 | c.60A>G (p.Pro20=) c.351A>G (p.Pro117=) c.306A>G (p.Pro102=) c.375A>G (p.Pro125=) c.271A>G n.84A>G c.314A>G c.173+149A>G c.24+149A>G (n.24+149A>G) | ClinVar gnomAD v4 |
16 | g.2046131T>G | CA492953175 | NTHL1 | c.60A>C (p.Pro20=) c.351A>C (p.Pro117=) c.306A>C (p.Pro102=) c.375A>C (p.Pro125=) c.271A>C n.84A>C c.314A>C c.173+149A>C c.24+149A>C (n.24+149A>C) | |
16 | g.2046131_2046132delinsTG | CA2202016955 | NTHL1 | c.59_60delinsCA (p.Pro20=) c.350_351delinsCA (p.Pro117=) c.305_306delinsCA (p.Pro102=) c.374_375delinsCA (p.Pro125=) c.270_271delinsCA n.83_84delinsCA c.313_314delinsCA c.173+148_173+149delinsCA c.24+148_24+149delinsCA (n.24+148_24+149delinsCA) | |
16 | g.2046132G>A | CA7828310 | NTHL1 | c.59C>T (p.Pro20Leu) c.350C>T (p.Pro117Leu) c.305C>T (p.Pro102Leu) c.374C>T (p.Pro125Leu) c.270C>T n.83C>T c.313C>T c.173+148C>T c.24+148C>T (n.24+148C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046132G>C | CA394295043 | NTHL1 | c.59C>G (p.Pro20Arg) c.350C>G (p.Pro117Arg) c.305C>G (p.Pro102Arg) c.374C>G (p.Pro125Arg) c.270C>G n.83C>G c.313C>G c.173+148C>G c.24+148C>G (n.24+148C>G) | ClinVar dbSNP gnomAD v2 |
16 | g.2046132G= | CA2202016956 | NTHL1 | c.59C= (p.Pro20=) c.350C= (p.Pro117=) c.305C= (p.Pro102=) c.374C= (p.Pro125=) c.270C= n.83C= c.313C= c.173+148C= c.24+148C= (n.24+148C=) | |
16 | g.2046132G>T | CA7828311 | NTHL1 | c.59C>A (p.Pro20Gln) c.350C>A (p.Pro117Gln) c.305C>A (p.Pro102Gln) c.374C>A (p.Pro125Gln) c.270C>A n.83C>A c.313C>A c.173+148C>A c.24+148C>A (n.24+148C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046138dup | CA7828309 | NTHL1 | c.59dup (p.Val22GlyfsTer?) c.350dup (p.Val119GlyfsTer?) c.305dup (p.Ser104GlufsTer?) c.374dup (p.Val127GlyfsTer?) c.270dup n.83dup c.313dup c.173+148dup c.374dup (p.Ser127GlufsTer?) c.24+148dup (n.24+148dup) c.350dup (p.Ser119GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2046137_2046138dup | CA2631108498 | NTHL1 | c.58_59dup (p.Lys21GlnfsTer12) c.349_350dup (p.Lys118GlnfsTer12) c.304_305dup (p.Lys103GlnfsTer5) c.373_374dup (p.Lys126GlnfsTer12) c.269_270dup n.82_83dup c.312_313dup c.173+147_173+148dup c.373_374dup (p.Lys126GlnfsTer5) c.24+147_24+148dup (n.24+147_24+148dup) c.349_350dup (p.Lys118GlnfsTer5) | gnomAD v4 |
16 | g.2046136_2046138dup | CA2805579162 | NTHL1 | c.57_59dup (p.Pro20_Lys21insPro) c.348_350dup (p.Pro117_Lys118insPro) c.303_305dup (p.Pro102_Lys103insPro) c.372_374dup (p.Pro125_Lys126insPro) c.268_270dup n.81_83dup c.311_313dup c.173+146_173+148dup c.24+146_24+148dup (n.24+146_24+148dup) | |
16 | g.2046138del | CA276765543 | NTHL1 | c.59del (p.Pro20GlnfsTer12) c.350del (p.Pro117GlnfsTer12) c.305del (p.Pro102GlnfsTer5) c.374del (p.Pro125GlnfsTer12) c.270del n.83del c.313del c.173+148del c.374del (p.Pro125GlnfsTer5) c.24+148del (n.24+148del) c.350del (p.Pro117GlnfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046132_2046141del | CA2697549524 | NTHL1 | c.50_59del (p.Ser17LysfsTer12) c.341_350del (p.Ser114LysfsTer12) c.296_305del (p.Ser99LysfsTer5) c.365_374del (p.Ser122LysfsTer12) c.261_270del n.74_83del c.304_313del c.173+139_173+148del c.365_374del (p.Ser122LysfsTer5) c.24+139_24+148del (n.24+139_24+148del) c.341_350del (p.Ser114LysfsTer5) | ClinVar |
16 | g.2046133G>A | CA7828312 | NTHL1 | c.58C>T (p.Pro20Ser) c.349C>T (p.Pro117Ser) c.304C>T (p.Pro102Ser) c.373C>T (p.Pro125Ser) c.269C>T n.82C>T c.312C>T c.173+147C>T c.24+147C>T (n.24+147C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046133G>C | CA7828314 | NTHL1 | c.58C>G (p.Pro20Ala) c.349C>G (p.Pro117Ala) c.304C>G (p.Pro102Ala) c.373C>G (p.Pro125Ala) c.269C>G n.82C>G c.312C>G c.173+147C>G c.24+147C>G (n.24+147C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046133G= | CA2202016957 | NTHL1 | c.58C= (p.Pro20=) c.349C= (p.Pro117=) c.304C= (p.Pro102=) c.373C= (p.Pro125=) c.269C= n.82C= c.312C= c.173+147C= c.24+147C= (n.24+147C=) | |
16 | g.2046133G>T | CA7828313 | NTHL1 | c.58C>A (p.Pro20Thr) c.349C>A (p.Pro117Thr) c.304C>A (p.Pro102Thr) c.373C>A (p.Pro125Thr) c.269C>A n.82C>A c.312C>A c.173+147C>A c.24+147C>A (n.24+147C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046134G>A | CA492953181 | NTHL1 | c.57C>T (p.Pro19=) c.348C>T (p.Pro116=) c.303C>T (p.Pro101=) c.372C>T (p.Pro124=) c.268C>T n.81C>T c.311C>T c.173+146C>T c.24+146C>T (n.24+146C>T) | ClinVar dbSNP |
16 | g.2046134G>C | CA7828316 | NTHL1 | c.57C>G (p.Pro19=) c.348C>G (p.Pro116=) c.303C>G (p.Pro101=) c.372C>G (p.Pro124=) c.268C>G n.81C>G c.311C>G c.173+146C>G c.24+146C>G (n.24+146C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046134G= | CA2201986547 | NTHL1 | c.57C= (p.Pro19=) c.348C= (p.Pro116=) c.303C= (p.Pro101=) c.372C= (p.Pro124=) c.268C= n.81C= c.311C= c.173+146C= c.24+146C= (n.24+146C=) | |
16 | g.2046134G>T | CA7828315 | NTHL1 | c.57C>A (p.Pro19=) c.348C>A (p.Pro116=) c.303C>A (p.Pro101=) c.372C>A (p.Pro124=) c.268C>A n.81C>A c.311C>A c.173+146C>A c.24+146C>A (n.24+146C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046135G>A | CA394295062 | NTHL1 | c.56C>T (p.Pro19Leu) c.347C>T (p.Pro116Leu) c.302C>T (p.Pro101Leu) c.371C>T (p.Pro124Leu) c.267C>T n.80C>T c.310C>T c.173+145C>T c.24+145C>T (n.24+145C>T) | ClinVar dbSNP |
16 | g.2046135G>C | CA394295064 | NTHL1 | c.56C>G (p.Pro19Arg) c.347C>G (p.Pro116Arg) c.302C>G (p.Pro101Arg) c.371C>G (p.Pro124Arg) c.267C>G n.80C>G c.310C>G c.173+145C>G c.24+145C>G (n.24+145C>G) | |
16 | g.2046135G= | CA2201986554 | NTHL1 | c.56C= (p.Pro19=) c.347C= (p.Pro116=) c.302C= (p.Pro101=) c.371C= (p.Pro124=) c.267C= n.80C= c.310C= c.173+145C= c.24+145C= (n.24+145C=) | |
16 | g.2046135G>T | CA394295066 | NTHL1 | c.56C>A (p.Pro19His) c.347C>A (p.Pro116His) c.302C>A (p.Pro101His) c.371C>A (p.Pro124His) c.267C>A n.80C>A c.310C>A c.173+145C>A c.24+145C>A (n.24+145C>A) | |
16 | g.2046136G>A | CA394295069 | NTHL1 | c.55C>T (p.Pro19Ser) c.346C>T (p.Pro116Ser) c.301C>T (p.Pro101Ser) c.370C>T (p.Pro124Ser) c.266C>T n.79C>T c.309C>T c.173+144C>T c.24+144C>T (n.24+144C>T) | ClinVar dbSNP |
16 | g.2046136G>C | CA394295072 | NTHL1 | c.55C>G (p.Pro19Ala) c.346C>G (p.Pro116Ala) c.301C>G (p.Pro101Ala) c.370C>G (p.Pro124Ala) c.266C>G n.79C>G c.309C>G c.173+144C>G c.24+144C>G (n.24+144C>G) | |
16 | g.2046136G= | CA2201986557 | NTHL1 | c.55C= (p.Pro19=) c.346C= (p.Pro116=) c.301C= (p.Pro101=) c.370C= (p.Pro124=) c.266C= n.79C= c.309C= c.173+144C= c.24+144C= (n.24+144C=) | |
16 | g.2046136G>T | CA7828317 | NTHL1 | c.55C>A (p.Pro19Thr) c.346C>A (p.Pro116Thr) c.301C>A (p.Pro101Thr) c.370C>A (p.Pro124Thr) c.266C>A n.79C>A c.309C>A c.173+144C>A c.24+144C>A (n.24+144C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046137G>A | CA7828318 | NTHL1 | c.54C>T (p.Ala18=) c.345C>T (p.Ala115=) c.300C>T (p.Ala100=) c.369C>T (p.Ala123=) c.265C>T n.78C>T c.308C>T c.173+143C>T c.24+143C>T (n.24+143C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046137G>C | CA492953187 | NTHL1 | c.54C>G (p.Ala18=) c.345C>G (p.Ala115=) c.300C>G (p.Ala100=) c.369C>G (p.Ala123=) c.265C>G n.78C>G c.308C>G c.173+143C>G c.24+143C>G (n.24+143C>G) | |
16 | g.2046137G= | CA2201986560 | NTHL1 | c.54C= (p.Ala18=) c.345C= (p.Ala115=) c.300C= (p.Ala100=) c.369C= (p.Ala123=) c.265C= n.78C= c.308C= c.173+143C= c.24+143C= (n.24+143C=) | |
16 | g.2046137G>T | CA492953186 | NTHL1 | c.54C>A (p.Ala18=) c.345C>A (p.Ala115=) c.300C>A (p.Ala100=) c.369C>A (p.Ala123=) c.265C>A n.78C>A c.308C>A c.173+143C>A c.24+143C>A (n.24+143C>A) | |
16 | g.2046138G>A | CA7828319 | NTHL1 | c.53C>T (p.Ala18Val) c.344C>T (p.Ala115Val) c.299C>T (p.Ala100Val) c.368C>T (p.Ala123Val) c.264C>T n.77C>T c.307C>T c.173+142C>T c.24+142C>T (n.24+142C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046138G>C | CA394295077 | NTHL1 | c.53C>G (p.Ala18Gly) c.344C>G (p.Ala115Gly) c.299C>G (p.Ala100Gly) c.368C>G (p.Ala123Gly) c.264C>G n.77C>G c.307C>G c.173+142C>G c.24+142C>G (n.24+142C>G) | |
16 | g.2046138G= | CA2201986565 | NTHL1 | c.53C= (p.Ala18=) c.344C= (p.Ala115=) c.299C= (p.Ala100=) c.368C= (p.Ala123=) c.264C= n.77C= c.307C= c.173+142C= c.24+142C= (n.24+142C=) | |
16 | g.2046138G>T | CA394295076 | NTHL1 | c.53C>A (p.Ala18Asp) c.344C>A (p.Ala115Asp) c.299C>A (p.Ala100Asp) c.368C>A (p.Ala123Asp) c.264C>A n.77C>A c.307C>A c.173+142C>A c.24+142C>A (n.24+142C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046139C>A | CA394295088 | NTHL1 | c.52G>T (p.Ala18Ser) c.343G>T (p.Ala115Ser) c.298G>T (p.Ala100Ser) c.367G>T (p.Ala123Ser) c.263G>T n.76G>T c.306G>T c.173+141G>T c.24+141G>T (n.24+141G>T) | |
16 | g.2046139C= | CA2201986570 | NTHL1 | c.52G= (p.Ala18=) c.343G= (p.Ala115=) c.298G= (p.Ala100=) c.367G= (p.Ala123=) c.263G= n.76G= c.306G= c.173+141G= c.24+141G= (n.24+141G=) | |
16 | g.2046139C>G | CA394295081 | NTHL1 | c.52G>C (p.Ala18Pro) c.343G>C (p.Ala115Pro) c.298G>C (p.Ala100Pro) c.367G>C (p.Ala123Pro) c.263G>C n.76G>C c.306G>C c.173+141G>C c.24+141G>C (n.24+141G>C) | ClinVar dbSNP |
16 | g.2046139C>T | CA7828320 | NTHL1 | c.52G>A (p.Ala18Thr) c.343G>A (p.Ala115Thr) c.298G>A (p.Ala100Thr) c.367G>A (p.Ala123Thr) c.263G>A n.76G>A c.306G>A c.173+141G>A c.24+141G>A (n.24+141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046140A= | CA2201986573 | NTHL1 | c.51T= (p.Ser17=) c.342T= (p.Ser114=) c.297T= (p.Ser99=) c.366T= (p.Ser122=) c.262T= n.75T= c.305T= c.173+140T= c.24+140T= (n.24+140T=) | |
16 | g.2046140A>C | CA394295089 | NTHL1 | c.51T>G (p.Ser17Arg) c.342T>G (p.Ser114Arg) c.297T>G (p.Ser99Arg) c.366T>G (p.Ser122Arg) c.262T>G n.75T>G c.305T>G c.173+140T>G c.24+140T>G (n.24+140T>G) | ClinVar dbSNP |
16 | g.2046140A>G | CA492953193 | NTHL1 | c.51T>C (p.Ser17=) c.342T>C (p.Ser114=) c.297T>C (p.Ser99=) c.366T>C (p.Ser122=) c.262T>C n.75T>C c.305T>C c.173+140T>C c.24+140T>C (n.24+140T>C) | |
16 | g.2046140A>T | CA394295091 | NTHL1 | c.51T>A (p.Ser17Arg) c.342T>A (p.Ser114Arg) c.297T>A (p.Ser99Arg) c.366T>A (p.Ser122Arg) c.262T>A n.75T>A c.305T>A c.173+140T>A c.24+140T>A (n.24+140T>A) | |
16 | g.2046141C>A | CA394295093 | NTHL1 | c.50G>T (p.Ser17Ile) c.341G>T (p.Ser114Ile) c.296G>T (p.Ser99Ile) c.365G>T (p.Ser122Ile) c.261G>T n.74G>T c.304G>T c.173+139G>T c.24+139G>T (n.24+139G>T) | |
16 | g.2046141C>G | CA394295095 | NTHL1 | c.50G>C (p.Ser17Thr) c.341G>C (p.Ser114Thr) c.296G>C (p.Ser99Thr) c.365G>C (p.Ser122Thr) c.261G>C n.74G>C c.304G>C c.173+139G>C c.24+139G>C (n.24+139G>C) | ClinVar |
16 | g.2046141C>T | CA394295096 | NTHL1 | c.50G>A (p.Ser17Asn) c.341G>A (p.Ser114Asn) c.296G>A (p.Ser99Asn) c.365G>A (p.Ser122Asn) c.261G>A n.74G>A c.304G>A c.173+139G>A c.24+139G>A (n.24+139G>A) | |
16 | g.2046142T>A | CA394295099 | NTHL1 | c.49A>T (p.Ser17Cys) c.340A>T (p.Ser114Cys) c.295A>T (p.Ser99Cys) c.364A>T (p.Ser122Cys) c.260A>T n.73A>T c.303A>T c.173+138A>T c.24+138A>T (n.24+138A>T) | |
16 | g.2046142T>C | CA394295101 | NTHL1 | c.49A>G (p.Ser17Gly) c.340A>G (p.Ser114Gly) c.295A>G (p.Ser99Gly) c.364A>G (p.Ser122Gly) c.260A>G n.73A>G c.303A>G c.173+138A>G c.24+138A>G (n.24+138A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046142T>G | CA394295103 | NTHL1 | c.49A>C (p.Ser17Arg) c.340A>C (p.Ser114Arg) c.295A>C (p.Ser99Arg) c.364A>C (p.Ser122Arg) c.260A>C n.73A>C c.303A>C c.173+138A>C c.24+138A>C (n.24+138A>C) | |
16 | g.2046142T= | CA2201986576 | NTHL1 | c.49A= (p.Ser17=) c.340A= (p.Ser114=) c.295A= (p.Ser99=) c.364A= (p.Ser122=) c.260A= n.73A= c.303A= c.173+138A= c.24+138A= (n.24+138A=) | |
16 | g.2046143G>A | CA492953197 | NTHL1 | c.48C>T (p.Ser16=) c.339C>T (p.Ser113=) c.294C>T (p.Ser98=) c.363C>T (p.Ser121=) c.259C>T n.72C>T c.302C>T c.173+137C>T c.24+137C>T (n.24+137C>T) | ClinVar |
16 | g.2046143G>C | CA492953198 | NTHL1 | c.48C>G (p.Ser16=) c.339C>G (p.Ser113=) c.294C>G (p.Ser98=) c.363C>G (p.Ser121=) c.259C>G n.72C>G c.302C>G c.173+137C>G c.24+137C>G (n.24+137C>G) | |
16 | g.2046143G>T | CA492953200 | NTHL1 | c.48C>A (p.Ser16=) c.339C>A (p.Ser113=) c.294C>A (p.Ser98=) c.363C>A (p.Ser121=) c.259C>A n.72C>A c.302C>A c.173+137C>A c.24+137C>A (n.24+137C>A) | |
16 | g.2046144G>A | CA394295105 | NTHL1 | c.47C>T (p.Ser16Phe) c.338C>T (p.Ser113Phe) c.293C>T (p.Ser98Phe) c.362C>T (p.Ser121Phe) c.258C>T n.71C>T c.301C>T c.173+136C>T c.24+136C>T (n.24+136C>T) | |
16 | g.2046144G>C | CA7828321 | NTHL1 | c.47C>G (p.Ser16Cys) c.338C>G (p.Ser113Cys) c.293C>G (p.Ser98Cys) c.362C>G (p.Ser121Cys) c.258C>G n.71C>G c.301C>G c.173+136C>G c.24+136C>G (n.24+136C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046144G= | CA2201986578 | NTHL1 | c.47C= (p.Ser16=) c.338C= (p.Ser113=) c.293C= (p.Ser98=) c.362C= (p.Ser121=) c.258C= n.71C= c.301C= c.173+136C= c.24+136C= (n.24+136C=) | |
16 | g.2046144G>T | CA394295109 | NTHL1 | c.47C>A (p.Ser16Tyr) c.338C>A (p.Ser113Tyr) c.293C>A (p.Ser98Tyr) c.362C>A (p.Ser121Tyr) c.258C>A n.71C>A c.301C>A c.173+136C>A c.24+136C>A (n.24+136C>A) | |
16 | g.2046145A>C | CA394295126 | NTHL1 | c.46T>G (p.Ser16Ala) c.337T>G (p.Ser113Ala) c.292T>G (p.Ser98Ala) c.361T>G (p.Ser121Ala) c.257T>G n.70T>G c.300T>G c.173+135T>G c.24+135T>G (n.24+135T>G) | |
16 | g.2046145A>G | CA394295111 | NTHL1 | c.46T>C (p.Ser16Pro) c.337T>C (p.Ser113Pro) c.292T>C (p.Ser98Pro) c.361T>C (p.Ser121Pro) c.257T>C n.70T>C c.300T>C c.173+135T>C c.24+135T>C (n.24+135T>C) | |
16 | g.2046145A>T | CA394295123 | NTHL1 | c.46T>A (p.Ser16Thr) c.337T>A (p.Ser113Thr) c.292T>A (p.Ser98Thr) c.361T>A (p.Ser121Thr) c.257T>A n.70T>A c.300T>A c.173+135T>A c.24+135T>A (n.24+135T>A) | |
16 | g.2046145_2046146delinsAG | CA2201986579 | NTHL1 | c.45_46delinsCT (p.Asp15=) c.336_337delinsCT (p.Asp112=) c.291_292delinsCT (p.Asp97=) c.360_361delinsCT (p.Asp120=) c.256_257delinsCT n.69_70delinsCT c.299_300delinsCT c.173+134_173+135delinsCT c.24+134_24+135delinsCT (n.24+134_24+135delinsCT) | |
16 | g.2046146del | CA2201986582 | NTHL1 | c.45del (p.Ser16ProfsTer16) c.336del (p.Ser113ProfsTer16) c.291del (p.Ser98ProfsTer9) c.360del (p.Ser121ProfsTer16) c.256del n.69del c.299del c.173+134del c.360del (p.Ser121ProfsTer9) c.24+134del (n.24+134del) c.336del (p.Ser113ProfsTer9) | dbSNP |
16 | g.2046146G>A | CA492953207 | NTHL1 | c.45C>T (p.Asp15=) c.336C>T (p.Asp112=) c.291C>T (p.Asp97=) c.360C>T (p.Asp120=) c.256C>T n.69C>T c.299C>T c.173+134C>T c.24+134C>T (n.24+134C>T) | ClinVar gnomAD v4 |
16 | g.2046146G>C | CA394295131 | NTHL1 | c.45C>G (p.Asp15Glu) c.336C>G (p.Asp112Glu) c.291C>G (p.Asp97Glu) c.360C>G (p.Asp120Glu) c.256C>G n.69C>G c.299C>G c.173+134C>G c.24+134C>G (n.24+134C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.2046146G= | CA2201986583 | NTHL1 | c.45C= (p.Asp15=) c.336C= (p.Asp112=) c.291C= (p.Asp97=) c.360C= (p.Asp120=) c.256C= n.69C= c.299C= c.173+134C= c.24+134C= (n.24+134C=) | |
16 | g.2046146G>T | CA394295133 | NTHL1 | c.45C>A (p.Asp15Glu) c.336C>A (p.Asp112Glu) c.291C>A (p.Asp97Glu) c.360C>A (p.Asp120Glu) c.256C>A n.69C>A c.299C>A c.173+134C>A c.24+134C>A (n.24+134C>A) | |
16 | g.2046147T>A | CA394295137 | NTHL1 | c.44A>T (p.Asp15Val) c.335A>T (p.Asp112Val) c.290A>T (p.Asp97Val) c.359A>T (p.Asp120Val) c.255A>T n.68A>T c.298A>T c.173+133A>T c.24+133A>T (n.24+133A>T) | |
16 | g.2046147T>C | CA394295144 | NTHL1 | c.44A>G (p.Asp15Gly) c.335A>G (p.Asp112Gly) c.290A>G (p.Asp97Gly) c.359A>G (p.Asp120Gly) c.255A>G n.68A>G c.298A>G c.173+133A>G c.24+133A>G (n.24+133A>G) | |
16 | g.2046147T>G | CA394295145 | NTHL1 | c.44A>C (p.Asp15Ala) c.335A>C (p.Asp112Ala) c.290A>C (p.Asp97Ala) c.359A>C (p.Asp120Ala) c.255A>C n.68A>C c.298A>C c.173+133A>C c.24+133A>C (n.24+133A>C) | dbSNP |
16 | g.2046148C>A | CA394295147 | NTHL1 | c.43G>T (p.Asp15Tyr) c.334G>T (p.Asp112Tyr) c.289G>T (p.Asp97Tyr) c.358G>T (p.Asp120Tyr) c.254G>T n.67G>T c.297G>T c.173+132G>T c.24+132G>T (n.24+132G>T) | ClinVar |
16 | g.2046148C= | CA2201986586 | NTHL1 | c.43G= (p.Asp15=) c.334G= (p.Asp112=) c.289G= (p.Asp97=) c.358G= (p.Asp120=) c.254G= n.67G= c.297G= c.173+132G= c.24+132G= (n.24+132G=) | |
16 | g.2046148C>G | CA394295150 | NTHL1 | c.43G>C (p.Asp15His) c.334G>C (p.Asp112His) c.289G>C (p.Asp97His) c.358G>C (p.Asp120His) c.254G>C n.67G>C c.297G>C c.173+132G>C c.24+132G>C (n.24+132G>C) | dbSNP |
16 | g.2046148C>T | CA276765589 | NTHL1 | c.43G>A (p.Asp15Asn) c.334G>A (p.Asp112Asn) c.289G>A (p.Asp97Asn) c.358G>A (p.Asp120Asn) c.254G>A n.67G>A c.297G>A c.173+132G>A c.24+132G>A (n.24+132G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046149A>C | CA394295155 | NTHL1 | c.42T>G (p.Tyr14Ter) c.333T>G (p.Tyr111Ter) c.288T>G (p.Tyr96Ter) c.357T>G (p.Tyr119Ter) c.253T>G n.66T>G c.296T>G c.173+131T>G c.24+131T>G (n.24+131T>G) | |
16 | g.2046149A>G | CA492953213 | NTHL1 | c.42T>C (p.Tyr14=) c.333T>C (p.Tyr111=) c.288T>C (p.Tyr96=) c.357T>C (p.Tyr119=) c.253T>C n.66T>C c.296T>C c.173+131T>C c.24+131T>C (n.24+131T>C) | |
16 | g.2046149A>T | CA394295158 | NTHL1 | c.42T>A (p.Tyr14Ter) c.333T>A (p.Tyr111Ter) c.288T>A (p.Tyr96Ter) c.357T>A (p.Tyr119Ter) c.253T>A n.66T>A c.296T>A c.173+131T>A c.24+131T>A (n.24+131T>A) | |
16 | g.2046150_2046151del | CA2697549525 | NTHL1 | c.41_42del (p.Tyr14Ter) c.332_333del (p.Tyr111Ter) c.287_288del (p.Tyr96Ter) c.356_357del (p.Tyr119Ter) c.252_253del n.65_66del c.295_296del c.173+130_173+131del c.24+130_24+131del (n.24+130_24+131del) | ClinVar |
16 | g.2046150T>A | CA394295161 | NTHL1 | c.41A>T (p.Tyr14Phe) c.332A>T (p.Tyr111Phe) c.287A>T (p.Tyr96Phe) c.356A>T (p.Tyr119Phe) c.252A>T n.65A>T c.295A>T c.173+130A>T c.24+130A>T (n.24+130A>T) | |
16 | g.2046150T>C | CA7828322 | NTHL1 | c.41A>G (p.Tyr14Cys) c.332A>G (p.Tyr111Cys) c.287A>G (p.Tyr96Cys) c.356A>G (p.Tyr119Cys) c.252A>G n.65A>G c.295A>G c.173+130A>G c.24+130A>G (n.24+130A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046150T>G | CA394295183 | NTHL1 | c.41A>C (p.Tyr14Ser) c.332A>C (p.Tyr111Ser) c.287A>C (p.Tyr96Ser) c.356A>C (p.Tyr119Ser) c.252A>C n.65A>C c.295A>C c.173+130A>C c.24+130A>C (n.24+130A>C) | |
16 | g.2046150T= | CA2201986591 | NTHL1 | c.41A= (p.Tyr14=) c.332A= (p.Tyr111=) c.287A= (p.Tyr96=) c.356A= (p.Tyr119=) c.252A= n.65A= c.295A= c.173+130A= c.24+130A= (n.24+130A=) | |
16 | g.2046151A>C | CA394295193 | NTHL1 | c.40T>G (p.Tyr14Asp) c.331T>G (p.Tyr111Asp) c.286T>G (p.Tyr96Asp) c.355T>G (p.Tyr119Asp) c.251T>G n.64T>G c.294T>G c.173+129T>G c.24+129T>G (n.24+129T>G) | |
16 | g.2046151A>G | CA394295190 | NTHL1 | c.40T>C (p.Tyr14His) c.331T>C (p.Tyr111His) c.286T>C (p.Tyr96His) c.355T>C (p.Tyr119His) c.251T>C n.64T>C c.294T>C c.173+129T>C c.24+129T>C (n.24+129T>C) | |
16 | g.2046151A>T | CA394295187 | NTHL1 | c.40T>A (p.Tyr14Asn) c.331T>A (p.Tyr111Asn) c.286T>A (p.Tyr96Asn) c.355T>A (p.Tyr119Asn) c.251T>A n.64T>A c.294T>A c.173+129T>A c.24+129T>A (n.24+129T>A) | |
16 | g.2046153_2046155del | CA2580090629 | NTHL1 | c.38_40del (p.Cys13del) c.329_331del (p.Cys110del) c.284_286del (p.Cys95del) c.353_355del (p.Cys118del) c.249_251del n.62_64del c.292_294del c.173+127_173+129del c.24+127_24+129del (n.24+127_24+129del) | ClinVar |
16 | g.2046152G>A | CA492953217 | NTHL1 | c.39C>T (p.Cys13=) c.330C>T (p.Cys110=) c.285C>T (p.Cys95=) c.354C>T (p.Cys118=) c.250C>T n.63C>T c.293C>T c.173+128C>T c.24+128C>T (n.24+128C>T) | ClinVar dbSNP |
16 | g.2046152G>C | CA394295201 | NTHL1 | c.39C>G (p.Cys13Trp) c.330C>G (p.Cys110Trp) c.285C>G (p.Cys95Trp) c.354C>G (p.Cys118Trp) c.250C>G n.63C>G c.293C>G c.173+128C>G c.24+128C>G (n.24+128C>G) | |
16 | g.2046152G>T | CA394295203 | NTHL1 | c.39C>A (p.Cys13Ter) c.330C>A (p.Cys110Ter) c.285C>A (p.Cys95Ter) c.354C>A (p.Cys118Ter) c.250C>A n.63C>A c.293C>A c.173+128C>A c.24+128C>A (n.24+128C>A) | |
16 | g.2046153C>A | CA394295205 | NTHL1 | c.38G>T (p.Cys13Phe) c.329G>T (p.Cys110Phe) c.284G>T (p.Cys95Phe) c.353G>T (p.Cys118Phe) c.249G>T n.62G>T c.292G>T c.173+127G>T c.24+127G>T (n.24+127G>T) | ClinVar dbSNP |
16 | g.2046153C>G | CA394295207 | NTHL1 | c.38G>C (p.Cys13Ser) c.329G>C (p.Cys110Ser) c.284G>C (p.Cys95Ser) c.353G>C (p.Cys118Ser) c.249G>C n.62G>C c.292G>C c.173+127G>C c.24+127G>C (n.24+127G>C) | |
16 | g.2046153C>T | CA394295209 | NTHL1 | c.38G>A (p.Cys13Tyr) c.329G>A (p.Cys110Tyr) c.284G>A (p.Cys95Tyr) c.353G>A (p.Cys118Tyr) c.249G>A n.62G>A c.292G>A c.173+127G>A c.24+127G>A (n.24+127G>A) | dbSNP gnomAD v4 |
16 | g.2046154A>C | CA394295213 | NTHL1 | c.37T>G (p.Cys13Gly) c.328T>G (p.Cys110Gly) c.283T>G (p.Cys95Gly) c.352T>G (p.Cys118Gly) c.248T>G n.61T>G c.291T>G c.173+126T>G c.24+126T>G (n.24+126T>G) | |
16 | g.2046154A>G | CA394295214 | NTHL1 | c.37T>C (p.Cys13Arg) c.328T>C (p.Cys110Arg) c.283T>C (p.Cys95Arg) c.352T>C (p.Cys118Arg) c.248T>C n.61T>C c.291T>C c.173+126T>C c.24+126T>C (n.24+126T>C) | |
16 | g.2046154A>T | CA394295216 | NTHL1 | c.37T>A (p.Cys13Ser) c.328T>A (p.Cys110Ser) c.283T>A (p.Cys95Ser) c.352T>A (p.Cys118Ser) c.248T>A n.61T>A c.291T>A c.173+126T>A c.24+126T>A (n.24+126T>A) | |
16 | g.2046155G>A | CA492953219 | NTHL1 | c.36C>T (p.His12=) c.327C>T (p.His109=) c.282C>T (p.His94=) c.351C>T (p.His117=) c.247C>T n.60C>T c.290C>T c.173+125C>T c.24+125C>T (n.24+125C>T) | ClinVar dbSNP |
16 | g.2046155G>C | CA394295217 | NTHL1 | c.36C>G (p.His12Gln) c.327C>G (p.His109Gln) c.282C>G (p.His94Gln) c.351C>G (p.His117Gln) c.247C>G n.60C>G c.290C>G c.173+125C>G c.24+125C>G (n.24+125C>G) | ClinVar dbSNP |
16 | g.2046155G= | CA2201986593 | NTHL1 | c.36C= (p.His12=) c.327C= (p.His109=) c.282C= (p.His94=) c.351C= (p.His117=) c.247C= n.60C= c.290C= c.173+125C= c.24+125C= (n.24+125C=) | |
16 | g.2046155G>T | CA394295219 | NTHL1 | c.36C>A (p.His12Gln) c.327C>A (p.His109Gln) c.282C>A (p.His94Gln) c.351C>A (p.His117Gln) c.247C>A n.60C>A c.290C>A c.173+125C>A c.24+125C>A (n.24+125C>A) | |
16 | g.2046156T>A | CA394295223 | NTHL1 | c.35A>T (p.His12Leu) c.326A>T (p.His109Leu) c.281A>T (p.His94Leu) c.350A>T (p.His117Leu) c.246A>T n.59A>T c.289A>T c.173+124A>T c.24+124A>T (n.24+124A>T) | |
16 | g.2046156T>C | CA394295240 | NTHL1 | c.35A>G (p.His12Arg) c.326A>G (p.His109Arg) c.281A>G (p.His94Arg) c.350A>G (p.His117Arg) c.246A>G n.59A>G c.289A>G c.173+124A>G c.24+124A>G (n.24+124A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.2046156T>G | CA394295243 | NTHL1 | c.35A>C (p.His12Pro) c.326A>C (p.His109Pro) c.281A>C (p.His94Pro) c.350A>C (p.His117Pro) c.246A>C n.59A>C c.289A>C c.173+124A>C c.24+124A>C (n.24+124A>C) | dbSNP |
16 | g.2046156T= | CA2201986597 | NTHL1 | c.35A= (p.His12=) c.326A= (p.His109=) c.281A= (p.His94=) c.350A= (p.His117=) c.246A= n.59A= c.289A= c.173+124A= c.24+124A= (n.24+124A=) | |
16 | g.2046157G>A | CA394295252 | NTHL1 | c.34C>T (p.His12Tyr) c.325C>T (p.His109Tyr) c.280C>T (p.His94Tyr) c.349C>T (p.His117Tyr) c.245C>T n.58C>T c.288C>T c.173+123C>T c.24+123C>T (n.24+123C>T) | ClinVar dbSNP |
16 | g.2046157G>C | CA394295249 | NTHL1 | c.34C>G (p.His12Asp) c.325C>G (p.His109Asp) c.280C>G (p.His94Asp) c.349C>G (p.His117Asp) c.245C>G n.58C>G c.288C>G c.173+123C>G c.24+123C>G (n.24+123C>G) | gnomAD v4 |
16 | g.2046157G>T | CA394295247 | NTHL1 | c.34C>A (p.His12Asn) c.325C>A (p.His109Asn) c.280C>A (p.His94Asn) c.349C>A (p.His117Asn) c.245C>A n.58C>A c.288C>A c.173+123C>A c.24+123C>A (n.24+123C>A) | |
16 | g.2046158C>A | CA394295255 | NTHL1 | c.33G>T (p.Glu11Asp) c.324G>T (p.Glu108Asp) c.279G>T (p.Glu93Asp) c.348G>T (p.Glu116Asp) c.244G>T n.57G>T c.287G>T c.173+122G>T c.24+122G>T (n.24+122G>T) | |
16 | g.2046158C>G | CA394295260 | NTHL1 | c.33G>C (p.Glu11Asp) c.324G>C (p.Glu108Asp) c.279G>C (p.Glu93Asp) c.348G>C (p.Glu116Asp) c.244G>C n.57G>C c.287G>C c.173+122G>C c.24+122G>C (n.24+122G>C) | gnomAD v4 |
16 | g.2046158C>T | CA492953221 | NTHL1 | c.33G>A (p.Glu11=) c.324G>A (p.Glu108=) c.279G>A (p.Glu93=) c.348G>A (p.Glu116=) c.244G>A n.57G>A c.287G>A c.173+122G>A c.24+122G>A (n.24+122G>A) | |
16 | g.2046159T>A | CA394295265 | NTHL1 | c.32A>T (p.Glu11Val) c.323A>T (p.Glu108Val) c.278A>T (p.Glu93Val) c.347A>T (p.Glu116Val) c.243A>T n.56A>T c.286A>T c.173+121A>T c.24+121A>T (n.24+121A>T) | |
16 | g.2046159T>C | CA7828323 | NTHL1 | c.32A>G (p.Glu11Gly) c.323A>G (p.Glu108Gly) c.278A>G (p.Glu93Gly) c.347A>G (p.Glu116Gly) c.243A>G n.56A>G c.286A>G c.173+121A>G c.24+121A>G (n.24+121A>G) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2046159T>G | CA394295270 | NTHL1 | c.32A>C (p.Glu11Ala) c.323A>C (p.Glu108Ala) c.278A>C (p.Glu93Ala) c.347A>C (p.Glu116Ala) c.243A>C n.56A>C c.286A>C c.173+121A>C c.24+121A>C (n.24+121A>C) | |
16 | g.2046159T= | CA2201986600 | NTHL1 | c.32A= (p.Glu11=) c.323A= (p.Glu108=) c.278A= (p.Glu93=) c.347A= (p.Glu116=) c.243A= n.56A= c.286A= c.173+121A= c.24+121A= (n.24+121A=) | |
16 | g.2046160C>A | CA394295274 | NTHL1 | c.31G>T (p.Glu11Ter) c.322G>T (p.Glu108Ter) c.277G>T (p.Glu93Ter) c.346G>T (p.Glu116Ter) c.242G>T n.55G>T c.285G>T c.173+120G>T c.24+120G>T (n.24+120G>T) | ClinVar |
16 | g.2046160C= | CA2201986603 | NTHL1 | c.31G= (p.Glu11=) c.322G= (p.Glu108=) c.277G= (p.Glu93=) c.346G= (p.Glu116=) c.242G= n.55G= c.285G= c.173+120G= c.24+120G= (n.24+120G=) | |
16 | g.2046160C>G | CA394295280 | NTHL1 | c.31G>C (p.Glu11Gln) c.322G>C (p.Glu108Gln) c.277G>C (p.Glu93Gln) c.346G>C (p.Glu116Gln) c.242G>C n.55G>C c.285G>C c.173+120G>C c.24+120G>C (n.24+120G>C) | |
16 | g.2046160C>T | CA394295281 | NTHL1 | c.31G>A (p.Glu11Lys) c.322G>A (p.Glu108Lys) c.277G>A (p.Glu93Lys) c.346G>A (p.Glu116Lys) c.242G>A n.55G>A c.285G>A c.173+120G>A c.24+120G>A (n.24+120G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.2046161A>C | CA492953223 | NTHL1 | c.30T>G (p.Thr10=) c.321T>G (p.Thr107=) c.276T>G (p.Thr92=) c.345T>G (p.Thr115=) c.241T>G n.54T>G c.284T>G c.173+119T>G c.24+119T>G (n.24+119T>G) | |
16 | g.2046161A>G | CA492953224 | NTHL1 | c.30T>C (p.Thr10=) c.321T>C (p.Thr107=) c.276T>C (p.Thr92=) c.345T>C (p.Thr115=) c.241T>C n.54T>C c.284T>C c.173+119T>C c.24+119T>C (n.24+119T>C) | ClinVar |
16 | g.2046161A>T | CA492953225 | NTHL1 | c.30T>A (p.Thr10=) c.321T>A (p.Thr107=) c.276T>A (p.Thr92=) c.345T>A (p.Thr115=) c.241T>A n.54T>A c.284T>A c.173+119T>A c.24+119T>A (n.24+119T>A) | |
16 | g.2046162G>A | CA394295285 | NTHL1 | c.29C>T (p.Thr10Ile) c.320C>T (p.Thr107Ile) c.275C>T (p.Thr92Ile) c.344C>T (p.Thr115Ile) c.240C>T n.53C>T c.283C>T c.173+118C>T c.24+118C>T (n.24+118C>T) | ClinVar |
16 | g.2046162G>C | CA394295291 | NTHL1 | c.29C>G (p.Thr10Ser) c.320C>G (p.Thr107Ser) c.275C>G (p.Thr92Ser) c.344C>G (p.Thr115Ser) c.240C>G n.53C>G c.283C>G c.173+118C>G c.24+118C>G (n.24+118C>G) | |
16 | g.2046162G>T | CA394295295 | NTHL1 | c.29C>A (p.Thr10Asn) c.320C>A (p.Thr107Asn) c.275C>A (p.Thr92Asn) c.344C>A (p.Thr115Asn) c.240C>A n.53C>A c.283C>A c.173+118C>A c.24+118C>A (n.24+118C>A) | |
16 | g.2046163T>A | CA394295308 | NTHL1 | c.28A>T (p.Thr10Ser) c.319A>T (p.Thr107Ser) c.274A>T (p.Thr92Ser) c.343A>T (p.Thr115Ser) c.239A>T n.52A>T c.282A>T c.173+117A>T c.24+117A>T (n.24+117A>T) | dbSNP |
16 | g.2046163T>C | CA394295319 | NTHL1 | c.28A>G (p.Thr10Ala) c.319A>G (p.Thr107Ala) c.274A>G (p.Thr92Ala) c.343A>G (p.Thr115Ala) c.239A>G n.52A>G c.282A>G c.173+117A>G c.24+117A>G (n.24+117A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.2046163T>G | CA276765601 | NTHL1 | c.28A>C (p.Thr10Pro) c.319A>C (p.Thr107Pro) c.274A>C (p.Thr92Pro) c.343A>C (p.Thr115Pro) c.239A>C n.52A>C c.282A>C c.173+117A>C c.24+117A>C (n.24+117A>C) | ClinVar dbSNP |
16 | g.2046163T= | CA2201986607 | NTHL1 | c.28A= (p.Thr10=) c.319A= (p.Thr107=) c.274A= (p.Thr92=) c.343A= (p.Thr115=) c.239A= n.52A= c.282A= c.173+117A= c.24+117A= (n.24+117A=) | |
16 | g.2046164C>A | CA492953226 | NTHL1 | c.27G>T (p.Gly9=) c.318G>T (p.Gly106=) c.273G>T (p.Gly91=) c.342G>T (p.Gly114=) c.238G>T n.51G>T c.281G>T c.173+116G>T c.24+116G>T (n.24+116G>T) | ClinVar |
16 | g.2046164C= | CA2201986610 | NTHL1 | c.27G= (p.Gly9=) c.318G= (p.Gly106=) c.273G= (p.Gly91=) c.342G= (p.Gly114=) c.238G= n.51G= c.281G= c.173+116G= c.24+116G= (n.24+116G=) | |
16 | g.2046164C>G | CA492953227 | NTHL1 | c.27G>C (p.Gly9=) c.318G>C (p.Gly106=) c.273G>C (p.Gly91=) c.342G>C (p.Gly114=) c.238G>C n.51G>C c.281G>C c.173+116G>C c.24+116G>C (n.24+116G>C) | |
16 | g.2046164C>T | CA492953228 | NTHL1 | c.27G>A (p.Gly9=) c.318G>A (p.Gly106=) c.273G>A (p.Gly91=) c.342G>A (p.Gly114=) c.238G>A n.51G>A c.281G>A c.173+116G>A c.24+116G>A (n.24+116G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.2046165C>A | CA394295352 | NTHL1 | c.26G>T (p.Gly9Val) c.317G>T (p.Gly106Val) c.272G>T (p.Gly91Val) c.341G>T (p.Gly114Val) c.237G>T n.50G>T c.280G>T c.173+115G>T c.24+115G>T (n.24+115G>T) | |
16 | g.2046165C>G | CA394295348 | NTHL1 | c.26G>C (p.Gly9Ala) c.317G>C (p.Gly106Ala) c.272G>C (p.Gly91Ala) c.341G>C (p.Gly114Ala) c.237G>C n.50G>C c.280G>C c.173+115G>C c.24+115G>C (n.24+115G>C) | ClinVar |
16 | g.2046165C>T | CA394295340 | NTHL1 | c.26G>A (p.Gly9Glu) c.317G>A (p.Gly106Glu) c.272G>A (p.Gly91Glu) c.341G>A (p.Gly114Glu) c.237G>A n.50G>A c.280G>A c.173+115G>A c.24+115G>A (n.24+115G>A) | ClinVar |
16 | g.2046166C>A | CA394295362 | NTHL1 | c.25G>T (p.Gly9Trp) c.316G>T (p.Gly106Trp) c.271G>T (p.Gly91Trp) c.340G>T (p.Gly114Trp) c.236G>T n.49G>T c.279G>T c.173+114G>T c.24+114G>T (n.24+114G>T) | |
16 | g.2046166C>G | CA394295365 | NTHL1 | c.25G>C (p.Gly9Arg) c.316G>C (p.Gly106Arg) c.271G>C (p.Gly91Arg) c.340G>C (p.Gly114Arg) c.236G>C n.49G>C c.279G>C c.173+114G>C c.24+114G>C (n.24+114G>C) | |
16 | g.2046166C>T | CA394295369 | NTHL1 | c.25G>A (p.Gly9Arg) c.316G>A (p.Gly106Arg) c.271G>A (p.Gly91Arg) c.340G>A (p.Gly114Arg) c.236G>A n.49G>A c.279G>A c.173+114G>A c.24+114G>A (n.24+114G>A) | ClinVar dbSNP COSMIC |
16 | g.2046167C>A | CA492953229 | NTHL1 | c.24G>T (p.Leu8=) c.315G>T (p.Leu105=) c.270G>T (p.Leu90=) c.339G>T (p.Leu113=) c.235G>T n.48G>T c.278G>T c.173+113G>T c.24+113G>T (n.24+113G>T) | |
16 | g.2046167C>G | CA492953230 | NTHL1 | c.24G>C (p.Leu8=) c.315G>C (p.Leu105=) c.270G>C (p.Leu90=) c.339G>C (p.Leu113=) c.235G>C n.48G>C c.278G>C c.173+113G>C c.24+113G>C (n.24+113G>C) | |
16 | g.2046167C>T | CA492953231 | NTHL1 | c.24G>A (p.Leu8=) c.315G>A (p.Leu105=) c.270G>A (p.Leu90=) c.339G>A (p.Leu113=) c.235G>A n.48G>A c.278G>A c.173+113G>A c.24+113G>A (n.24+113G>A) | |
16 | g.2046170_2046180del | CA2695197410 | NTHL1 | c.14_24del (p.Val5GlyfsTer3) c.305_315del (p.Val102GlyfsTer3) c.260_270del (p.Val87GlyfsTer3) c.329_339del (p.Val110GlyfsTer3) c.225_235del n.38_48del c.268_278del c.173+103_173+113del c.24+103_24+113del (n.24+103_24+113del) | ClinVar |
16 | g.2046168A>C | CA394295373 | NTHL1 | c.23T>G (p.Leu8Arg) c.314T>G (p.Leu105Arg) c.269T>G (p.Leu90Arg) c.338T>G (p.Leu113Arg) c.234T>G n.47T>G c.277T>G c.173+112T>G c.24+112T>G (n.24+112T>G) | |
16 | g.2046168A>G | CA394295376 | NTHL1 | c.23T>C (p.Leu8Pro) c.314T>C (p.Leu105Pro) c.269T>C (p.Leu90Pro) c.338T>C (p.Leu113Pro) c.234T>C n.47T>C c.277T>C c.173+112T>C c.24+112T>C (n.24+112T>C) | ClinVar dbSNP |
16 | g.2046168A>T | CA394295379 | NTHL1 | c.23T>A (p.Leu8Gln) c.314T>A (p.Leu105Gln) c.269T>A (p.Leu90Gln) c.338T>A (p.Leu113Gln) c.234T>A n.47T>A c.277T>A c.173+112T>A c.24+112T>A (n.24+112T>A) | |
16 | g.2046169G>A | CA492953232 | NTHL1 | c.22C>T (p.Leu8=) c.313C>T (p.Leu105=) c.268C>T (p.Leu90=) c.337C>T (p.Leu113=) c.233C>T n.46C>T c.276C>T c.173+111C>T c.24+111C>T (n.24+111C>T) | ClinVar dbSNP |
16 | g.2046169G>C | CA394295396 | NTHL1 | c.22C>G (p.Leu8Val) c.313C>G (p.Leu105Val) c.268C>G (p.Leu90Val) c.337C>G (p.Leu113Val) c.233C>G n.46C>G c.276C>G c.173+111C>G c.24+111C>G (n.24+111C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2046169G= | CA2201986613 | NTHL1 | c.22C= (p.Leu8=) c.313C= (p.Leu105=) c.268C= (p.Leu90=) c.337C= (p.Leu113=) c.233C= n.46C= c.276C= c.173+111C= c.24+111C= (n.24+111C=) | |
16 | g.2046169G>T | CA394295385 | NTHL1 | c.22C>A (p.Leu8Met) c.313C>A (p.Leu105Met) c.268C>A (p.Leu90Met) c.337C>A (p.Leu113Met) c.233C>A n.46C>A c.276C>A c.173+111C>A c.24+111C>A (n.24+111C>A) | |
16 | g.2046170A= | CA2201986616 | NTHL1 | c.21T= (p.His7=) c.312T= (p.His104=) c.267T= (p.His89=) c.336T= (p.His112=) c.232T= n.45T= c.275T= c.173+110T= c.24+110T= (n.24+110T=) | |
16 | g.2046170A>C | CA394295399 | NTHL1 | c.21T>G (p.His7Gln) c.312T>G (p.His104Gln) c.267T>G (p.His89Gln) c.336T>G (p.His112Gln) c.232T>G n.45T>G c.275T>G c.173+110T>G c.24+110T>G (n.24+110T>G) | ClinVar |
16 | g.2046170A>G | CA7828324 | NTHL1 | c.21T>C (p.His7=) c.312T>C (p.His104=) c.267T>C (p.His89=) c.336T>C (p.His112=) c.232T>C n.45T>C c.275T>C c.173+110T>C c.24+110T>C (n.24+110T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046170A>T | CA394295407 | NTHL1 | c.21T>A (p.His7Gln) c.312T>A (p.His104Gln) c.267T>A (p.His89Gln) c.336T>A (p.His112Gln) c.232T>A n.45T>A c.275T>A c.173+110T>A c.24+110T>A (n.24+110T>A) | |
16 | g.2046171T>A | CA394295409 | NTHL1 | c.20A>T (p.His7Leu) c.311A>T (p.His104Leu) c.266A>T (p.His89Leu) c.335A>T (p.His112Leu) c.231A>T n.44A>T c.274A>T c.173+109A>T c.24+109A>T (n.24+109A>T) | |
16 | g.2046171T>C | CA394295410 | NTHL1 | c.20A>G (p.His7Arg) c.311A>G (p.His104Arg) c.266A>G (p.His89Arg) c.335A>G (p.His112Arg) c.231A>G n.44A>G c.274A>G c.173+109A>G c.24+109A>G (n.24+109A>G) | |
16 | g.2046171T>G | CA394295411 | NTHL1 | c.20A>C (p.His7Pro) c.311A>C (p.His104Pro) c.266A>C (p.His89Pro) c.335A>C (p.His112Pro) c.231A>C n.44A>C c.274A>C c.173+109A>C c.24+109A>C (n.24+109A>C) | dbSNP |
16 | g.2046172G>A | CA394295413 | NTHL1 | c.19C>T (p.His7Tyr) c.310C>T (p.His104Tyr) c.265C>T (p.His89Tyr) c.334C>T (p.His112Tyr) c.230C>T n.43C>T c.273C>T c.173+108C>T c.24+108C>T (n.24+108C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046172G>C | CA394295415 | NTHL1 | c.19C>G (p.His7Asp) c.310C>G (p.His104Asp) c.265C>G (p.His89Asp) c.334C>G (p.His112Asp) c.230C>G n.43C>G c.273C>G c.173+108C>G c.24+108C>G (n.24+108C>G) | ClinVar gnomAD v4 |
16 | g.2046172G= | CA2201986618 | NTHL1 | c.19C= (p.His7=) c.310C= (p.His104=) c.265C= (p.His89=) c.334C= (p.His112=) c.230C= n.43C= c.273C= c.173+108C= c.24+108C= (n.24+108C=) | |
16 | g.2046172G>T | CA394295414 | NTHL1 | c.19C>A (p.His7Asn) c.310C>A (p.His104Asn) c.265C>A (p.His89Asn) c.334C>A (p.His112Asn) c.230C>A n.43C>A c.273C>A c.173+108C>A c.24+108C>A (n.24+108C>A) | ClinVar |
16 | g.2046173G>A | CA492953233 | NTHL1 | c.18C>T (p.Asp6=) c.309C>T (p.Asp103=) c.264C>T (p.Asp88=) c.333C>T (p.Asp111=) c.229C>T n.42C>T c.272C>T c.173+107C>T c.24+107C>T (n.24+107C>T) | ClinVar dbSNP |
16 | g.2046173G>C | CA394295418 | NTHL1 | c.18C>G (p.Asp6Glu) c.309C>G (p.Asp103Glu) c.264C>G (p.Asp88Glu) c.333C>G (p.Asp111Glu) c.229C>G n.42C>G c.272C>G c.173+107C>G c.24+107C>G (n.24+107C>G) | dbSNP |
16 | g.2046173G>T | CA394295422 | NTHL1 | c.18C>A (p.Asp6Glu) c.309C>A (p.Asp103Glu) c.264C>A (p.Asp88Glu) c.333C>A (p.Asp111Glu) c.229C>A n.42C>A c.272C>A c.173+107C>A c.24+107C>A (n.24+107C>A) | |
16 | g.2046174T>A | CA394295425 | NTHL1 | c.17A>T (p.Asp6Val) c.308A>T (p.Asp103Val) c.263A>T (p.Asp88Val) c.332A>T (p.Asp111Val) c.228A>T n.41A>T c.271A>T c.173+106A>T c.24+106A>T (n.24+106A>T) | dbSNP |
16 | g.2046174T>C | CA7828325 | NTHL1 | c.17A>G (p.Asp6Gly) c.308A>G (p.Asp103Gly) c.263A>G (p.Asp88Gly) c.332A>G (p.Asp111Gly) c.228A>G n.41A>G c.271A>G c.173+106A>G c.24+106A>G (n.24+106A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046174T>G | CA394295435 | NTHL1 | c.17A>C (p.Asp6Ala) c.308A>C (p.Asp103Ala) c.263A>C (p.Asp88Ala) c.332A>C (p.Asp111Ala) c.228A>C n.41A>C c.271A>C c.173+106A>C c.24+106A>C (n.24+106A>C) | |
16 | g.2046174T= | CA2201986620 | NTHL1 | c.17A= (p.Asp6=) c.308A= (p.Asp103=) c.263A= (p.Asp88=) c.332A= (p.Asp111=) c.228A= n.41A= c.271A= c.173+106A= c.24+106A= (n.24+106A=) | |
16 | g.2046175C>A | CA394295438 | NTHL1 | c.16G>T (p.Asp6Tyr) c.307G>T (p.Asp103Tyr) c.262G>T (p.Asp88Tyr) c.331G>T (p.Asp111Tyr) c.227G>T n.40G>T c.270G>T c.173+105G>T c.24+105G>T (n.24+105G>T) | |
16 | g.2046175C>G | CA394295441 | NTHL1 | c.16G>C (p.Asp6His) c.307G>C (p.Asp103His) c.262G>C (p.Asp88His) c.331G>C (p.Asp111His) c.227G>C n.40G>C c.270G>C c.173+105G>C c.24+105G>C (n.24+105G>C) | dbSNP |
16 | g.2046175C>T | CA394295449 | NTHL1 | c.16G>A (p.Asp6Asn) c.307G>A (p.Asp103Asn) c.262G>A (p.Asp88Asn) c.331G>A (p.Asp111Asn) c.227G>A n.40G>A c.270G>A c.173+105G>A c.24+105G>A (n.24+105G>A) | |
16 | g.2046176dup | CA2499223261 | NTHL1 | c.16dup (p.Asp6GlyfsTer6) c.307dup (p.Asp103GlyfsTer6) c.262dup (p.Asp88GlyfsTer6) c.331dup (p.Asp111GlyfsTer6) c.227dup n.40dup c.270dup c.173+105dup c.24+105dup (n.24+105dup) | ClinVar dbSNP |
16 | g.2046176C>A | CA492953236 | NTHL1 | c.15G>T (p.Val5=) c.306G>T (p.Val102=) c.261G>T (p.Val87=) c.330G>T (p.Val110=) c.226G>T n.39G>T c.269G>T c.173+104G>T c.24+104G>T (n.24+104G>T) | |
16 | g.2046176C= | CA2201986622 | NTHL1 | c.15G= (p.Val5=) c.306G= (p.Val102=) c.261G= (p.Val87=) c.330G= (p.Val110=) c.226G= n.39G= c.269G= c.173+104G= c.24+104G= (n.24+104G=) | |
16 | g.2046176C>G | CA492953234 | NTHL1 | c.15G>C (p.Val5=) c.306G>C (p.Val102=) c.261G>C (p.Val87=) c.330G>C (p.Val110=) c.226G>C n.39G>C c.269G>C c.173+104G>C c.24+104G>C (n.24+104G>C) | |
16 | g.2046176C>T | CA492953235 | NTHL1 | c.15G>A (p.Val5=) c.306G>A (p.Val102=) c.261G>A (p.Val87=) c.330G>A (p.Val110=) c.226G>A n.39G>A c.269G>A c.173+104G>A c.24+104G>A (n.24+104G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2046177A>C | CA394295453 | NTHL1 | c.14T>G (p.Val5Gly) c.305T>G (p.Val102Gly) c.260T>G (p.Val87Gly) c.329T>G (p.Val110Gly) c.225T>G n.38T>G c.268T>G c.173+103T>G c.24+103T>G (n.24+103T>G) | ClinVar dbSNP |
16 | g.2046177A>G | CA394295477 | NTHL1 | c.14T>C (p.Val5Ala) c.305T>C (p.Val102Ala) c.260T>C (p.Val87Ala) c.329T>C (p.Val110Ala) c.225T>C n.38T>C c.268T>C c.173+103T>C c.24+103T>C (n.24+103T>C) | |
16 | g.2046177A>T | CA394295490 | NTHL1 | c.14T>A (p.Val5Glu) c.305T>A (p.Val102Glu) c.260T>A (p.Val87Glu) c.329T>A (p.Val110Glu) c.225T>A n.38T>A c.268T>A c.173+103T>A c.24+103T>A (n.24+103T>A) | |
16 | g.2046178C>A | CA394295496 | NTHL1 | c.13G>T (p.Val5Leu) c.304G>T (p.Val102Leu) c.259G>T (p.Val87Leu) c.328G>T (p.Val110Leu) c.224G>T n.37G>T c.267G>T c.173+102G>T c.24+102G>T (n.24+102G>T) | |
16 | g.2046178C= | CA2201986625 | NTHL1 | c.13G= (p.Val5=) c.304G= (p.Val102=) c.259G= (p.Val87=) c.328G= (p.Val110=) c.224G= n.37G= c.267G= c.173+102G= c.24+102G= (n.24+102G=) | |
16 | g.2046178C>G | CA394295501 | NTHL1 | c.13G>C (p.Val5Leu) c.304G>C (p.Val102Leu) c.259G>C (p.Val87Leu) c.328G>C (p.Val110Leu) c.224G>C n.37G>C c.267G>C c.173+102G>C c.24+102G>C (n.24+102G>C) | gnomAD v4 |
16 | g.2046178C>T | CA394295499 | NTHL1 | c.13G>A (p.Val5Met) c.304G>A (p.Val102Met) c.259G>A (p.Val87Met) c.328G>A (p.Val110Met) c.224G>A n.37G>A c.267G>A c.173+102G>A c.24+102G>A (n.24+102G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2046179A= | CA2201986627 | NTHL1 | c.12T= (p.Pro4=) c.303T= (p.Pro101=) c.258T= (p.Pro86=) c.327T= (p.Pro109=) c.223T= n.36T= c.266T= c.173+101T= c.24+101T= (n.24+101T=) | |
16 | g.2046179A>C | CA492953237 | NTHL1 | c.12T>G (p.Pro4=) c.303T>G (p.Pro101=) c.258T>G (p.Pro86=) c.327T>G (p.Pro109=) c.223T>G n.36T>G c.266T>G c.173+101T>G c.24+101T>G (n.24+101T>G) | |
16 | g.2046179A>G | CA492953238 | NTHL1 | c.12T>C (p.Pro4=) c.303T>C (p.Pro101=) c.258T>C (p.Pro86=) c.327T>C (p.Pro109=) c.223T>C n.36T>C c.266T>C c.173+101T>C c.24+101T>C (n.24+101T>C) | |
16 | g.2046179A>T | CA7828326 | NTHL1 | c.12T>A (p.Pro4=) c.303T>A (p.Pro101=) c.258T>A (p.Pro86=) c.327T>A (p.Pro109=) c.223T>A n.36T>A c.266T>A c.173+101T>A c.24+101T>A (n.24+101T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046180G>A | CA394295508 | NTHL1 | c.11C>T (p.Pro4Leu) c.302C>T (p.Pro101Leu) c.257C>T (p.Pro86Leu) c.326C>T (p.Pro109Leu) c.222C>T n.35C>T c.265C>T c.173+100C>T c.24+100C>T (n.24+100C>T) | ClinVar |
16 | g.2046180G>C | CA394295505 | NTHL1 | c.11C>G (p.Pro4Arg) c.302C>G (p.Pro101Arg) c.257C>G (p.Pro86Arg) c.326C>G (p.Pro109Arg) c.222C>G n.35C>G c.265C>G c.173+100C>G c.24+100C>G (n.24+100C>G) | |
16 | g.2046180G>T | CA394295509 | NTHL1 | c.11C>A (p.Pro4His) c.302C>A (p.Pro101His) c.257C>A (p.Pro86His) c.326C>A (p.Pro109His) c.222C>A n.35C>A c.265C>A c.173+100C>A c.24+100C>A (n.24+100C>A) | |
16 | g.2046181G>A | CA394295510 | NTHL1 | c.10C>T (p.Pro4Ser) c.301C>T (p.Pro101Ser) c.256C>T (p.Pro86Ser) c.325C>T (p.Pro109Ser) c.221C>T n.34C>T c.264C>T c.173+99C>T c.24+99C>T (n.24+99C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2046181G>C | CA394295511 | NTHL1 | c.10C>G (p.Pro4Ala) c.301C>G (p.Pro101Ala) c.256C>G (p.Pro86Ala) c.325C>G (p.Pro109Ala) c.221C>G n.34C>G c.264C>G c.173+99C>G c.24+99C>G (n.24+99C>G) | ClinVar dbSNP |
16 | g.2046181G= | CA2201986630 | NTHL1 | c.10C= (p.Pro4=) c.301C= (p.Pro101=) c.256C= (p.Pro86=) c.325C= (p.Pro109=) c.221C= n.34C= c.264C= c.173+99C= c.24+99C= (n.24+99C=) | |
16 | g.2046181G>T | CA394295514 | NTHL1 | c.10C>A (p.Pro4Thr) c.301C>A (p.Pro101Thr) c.256C>A (p.Pro86Thr) c.325C>A (p.Pro109Thr) c.221C>A n.34C>A c.264C>A c.173+99C>A c.24+99C>A (n.24+99C>A) | |
16 | g.2046182T>A | CA492953239 | NTHL1 | c.9A>T (p.Ala3=) c.300A>T (p.Ala100=) c.255A>T (p.Ala85=) c.324A>T (p.Ala108=) c.220A>T n.33A>T c.263A>T c.173+98A>T c.24+98A>T (n.24+98A>T) | ClinVar dbSNP |
16 | g.2046182T>C | CA492953240 | NTHL1 | c.9A>G (p.Ala3=) c.300A>G (p.Ala100=) c.255A>G (p.Ala85=) c.324A>G (p.Ala108=) c.220A>G n.33A>G c.263A>G c.173+98A>G c.24+98A>G (n.24+98A>G) | ClinVar dbSNP |
16 | g.2046182T>G | CA492953241 | NTHL1 | c.9A>C (p.Ala3=) c.300A>C (p.Ala100=) c.255A>C (p.Ala85=) c.324A>C (p.Ala108=) c.220A>C n.33A>C c.263A>C c.173+98A>C c.24+98A>C (n.24+98A>C) | |
16 | g.2046183G>A | CA394295524 | NTHL1 | c.8C>T (p.Ala3Val) c.299C>T (p.Ala100Val) c.254C>T (p.Ala85Val) c.323C>T (p.Ala108Val) c.219C>T n.32C>T c.262C>T c.173+97C>T c.24+97C>T (n.24+97C>T) | ClinVar dbSNP |
16 | g.2046183G>C | CA394295525 | NTHL1 | c.8C>G (p.Ala3Gly) c.299C>G (p.Ala100Gly) c.254C>G (p.Ala85Gly) c.323C>G (p.Ala108Gly) c.219C>G n.32C>G c.262C>G c.173+97C>G c.24+97C>G (n.24+97C>G) | |
16 | g.2046183G= | CA2201986633 | NTHL1 | c.8C= (p.Ala3=) c.299C= (p.Ala100=) c.254C= (p.Ala85=) c.323C= (p.Ala108=) c.219C= n.32C= c.262C= c.173+97C= c.24+97C= (n.24+97C=) | |
16 | g.2046183G>T | CA394295526 | NTHL1 | c.8C>A (p.Ala3Glu) c.299C>A (p.Ala100Glu) c.254C>A (p.Ala85Glu) c.323C>A (p.Ala108Glu) c.219C>A n.32C>A c.262C>A c.173+97C>A c.24+97C>A (n.24+97C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046184C>A | CA394295528 | NTHL1 | c.7G>T (p.Ala3Ser) c.298G>T (p.Ala100Ser) c.253G>T (p.Ala85Ser) c.322G>T (p.Ala108Ser) c.218G>T n.31G>T c.261G>T c.173+96G>T c.24+96G>T (n.24+96G>T) | |
16 | g.2046184C= | CA2201986635 | NTHL1 | c.7G= (p.Ala3=) c.298G= (p.Ala100=) c.253G= (p.Ala85=) c.322G= (p.Ala108=) c.218G= n.31G= c.261G= c.173+96G= c.24+96G= (n.24+96G=) | |
16 | g.2046184C>G | CA394295531 | NTHL1 | c.7G>C (p.Ala3Pro) c.298G>C (p.Ala100Pro) c.253G>C (p.Ala85Pro) c.322G>C (p.Ala108Pro) c.218G>C n.31G>C c.261G>C c.173+96G>C c.24+96G>C (n.24+96G>C) | |
16 | g.2046184C>T | CA7828327 | NTHL1 | c.7G>A (p.Ala3Thr) c.298G>A (p.Ala100Thr) c.253G>A (p.Ala85Thr) c.322G>A (p.Ala108Thr) c.218G>A n.31G>A c.261G>A c.173+96G>A c.24+96G>A (n.24+96G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046185A= | CA2201986638 | NTHL1 | c.6T= (p.Asp2=) c.297T= (p.Asp99=) c.252T= (p.Asp84=) c.321T= (p.Asp107=) c.217T= n.30T= c.260T= c.173+95T= c.24+95T= (n.24+95T=) | |
16 | g.2046185A>C | CA394295533 | NTHL1 | c.6T>G (p.Asp2Glu) c.297T>G (p.Asp99Glu) c.252T>G (p.Asp84Glu) c.321T>G (p.Asp107Glu) c.217T>G n.30T>G c.260T>G c.173+95T>G c.24+95T>G (n.24+95T>G) | ClinVar |
16 | g.2046185A>G | CA492953242 | NTHL1 | c.6T>C (p.Asp2=) c.297T>C (p.Asp99=) c.252T>C (p.Asp84=) c.321T>C (p.Asp107=) c.217T>C n.30T>C c.260T>C c.173+95T>C c.24+95T>C (n.24+95T>C) | ClinVar dbSNP |
16 | g.2046185A>T | CA394295535 | NTHL1 | c.6T>A (p.Asp2Glu) c.297T>A (p.Asp99Glu) c.252T>A (p.Asp84Glu) c.321T>A (p.Asp107Glu) c.217T>A n.30T>A c.260T>A c.173+95T>A c.24+95T>A (n.24+95T>A) | |
16 | g.2046186T>A | CA394295549 | NTHL1 | c.5A>T (p.Asp2Val) c.296A>T (p.Asp99Val) c.251A>T (p.Asp84Val) c.320A>T (p.Asp107Val) c.216A>T n.29A>T c.259A>T c.173+94A>T c.24+94A>T (n.24+94A>T) | ClinVar |
16 | g.2046186T>C | CA394295540 | NTHL1 | c.5A>G (p.Asp2Gly) c.296A>G (p.Asp99Gly) c.251A>G (p.Asp84Gly) c.320A>G (p.Asp107Gly) c.216A>G n.29A>G c.259A>G c.173+94A>G c.24+94A>G (n.24+94A>G) | |
16 | g.2046186T>G | CA276765608 | NTHL1 | c.5A>C (p.Asp2Ala) c.296A>C (p.Asp99Ala) c.251A>C (p.Asp84Ala) c.320A>C (p.Asp107Ala) c.216A>C n.29A>C c.259A>C c.173+94A>C c.24+94A>C (n.24+94A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046186T= | CA2201986640 | NTHL1 | c.5A= (p.Asp2=) c.296A= (p.Asp99=) c.251A= (p.Asp84=) c.320A= (p.Asp107=) c.216A= n.29A= c.259A= c.173+94A= c.24+94A= (n.24+94A=) | |
16 | g.2046187C>A | CA394295556 | NTHL1 | c.4G>T (p.Asp2Tyr) c.295G>T (p.Asp99Tyr) c.250G>T (p.Asp84Tyr) c.319G>T (p.Asp107Tyr) c.215G>T n.28G>T c.258G>T c.173+93G>T c.24+93G>T (n.24+93G>T) | ClinVar dbSNP |
16 | g.2046187C= | CA2201986643 | NTHL1 | c.4G= (p.Asp2=) c.295G= (p.Asp99=) c.250G= (p.Asp84=) c.319G= (p.Asp107=) c.215G= n.28G= c.258G= c.173+93G= c.24+93G= (n.24+93G=) | |
16 | g.2046187C>G | CA7828328 | NTHL1 | c.4G>C (p.Asp2His) c.295G>C (p.Asp99His) c.250G>C (p.Asp84His) c.319G>C (p.Asp107His) c.215G>C n.28G>C c.258G>C c.173+93G>C c.24+93G>C (n.24+93G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2046187C>T | CA394295570 | NTHL1 | c.4G>A (p.Asp2Asn) c.295G>A (p.Asp99Asn) c.250G>A (p.Asp84Asn) c.319G>A (p.Asp107Asn) c.215G>A n.28G>A c.258G>A c.173+93G>A c.24+93G>A (n.24+93G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046188C>A | CA394295574 | NTHL1 | c.3G>T (p.Lys1Asn) c.294G>T (p.Lys98Asn) c.249G>T (p.Lys83Asn) c.318G>T (p.Lys106Asn) c.214G>T n.27G>T c.257G>T c.173+92G>T c.24+92G>T (n.24+92G>T) | |
16 | g.2046188C= | CA2201986648 | NTHL1 | c.3G= (p.Lys1=) c.294G= (p.Lys98=) c.249G= (p.Lys83=) c.318G= (p.Lys106=) c.214G= n.27G= c.257G= c.173+92G= c.24+92G= (n.24+92G=) | |
16 | g.2046188C>G | CA394295576 | NTHL1 | c.3G>C (p.Lys1Asn) c.294G>C (p.Lys98Asn) c.249G>C (p.Lys83Asn) c.318G>C (p.Lys106Asn) c.214G>C n.27G>C c.257G>C c.173+92G>C c.24+92G>C (n.24+92G>C) | |
16 | g.2046188C>T | CA492953243 | NTHL1 | c.3G>A (p.Lys1=) c.294G>A (p.Lys98=) c.249G>A (p.Lys83=) c.318G>A (p.Lys106=) c.214G>A n.27G>A c.257G>A c.173+92G>A c.24+92G>A (n.24+92G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046188_2046189delinsCT | CA2201986647 | NTHL1 | c.2_3delinsAG (p.Lys1=) c.293_294delinsAG (p.Lys98=) c.248_249delinsAG (p.Lys83=) c.317_318delinsAG (p.Lys106=) c.213_214delinsAG n.26_27delinsAG c.256_257delinsAG c.173+91_173+92delinsAG c.24+91_24+92delinsAG (n.24+91_24+92delinsAG) | |
16 | g.2046189T>A | CA394295581 | NTHL1 | c.2A>T (p.Lys1Met) c.293A>T (p.Lys98Met) c.248A>T (p.Lys83Met) c.317A>T (p.Lys106Met) c.213A>T n.26A>T c.256A>T c.173+91A>T c.24+91A>T (n.24+91A>T) | |
16 | g.2046189T>C | CA394295586 | NTHL1 | c.2A>G (p.Lys1Arg) c.293A>G (p.Lys98Arg) c.248A>G (p.Lys83Arg) c.317A>G (p.Lys106Arg) c.213A>G n.26A>G c.256A>G c.173+91A>G c.24+91A>G (n.24+91A>G) | dbSNP |
16 | g.2046189T>G | CA394295587 | NTHL1 | c.2A>C (p.Lys1Thr) c.293A>C (p.Lys98Thr) c.248A>C (p.Lys83Thr) c.317A>C (p.Lys106Thr) c.213A>C n.26A>C c.256A>C c.173+91A>C c.24+91A>C (n.24+91A>C) | COSMIC |
16 | g.2046193del | CA276765609 | NTHL1 | c.293del (p.Lys98ArgfsTer?) c.248del (p.Lys83ArgfsTer24) c.317del (p.Lys106ArgfsTer?) c.213del n.26del c.256del c.173+91del c.317del (p.Lys106ArgfsTer24) c.24+91del (n.24+91del) c.293del (p.Lys98ArgfsTer24) | dbSNP |
16 | g.2046190T>A | CA394295588 | NTHL1 | c.1A>T (p.Lys1Ter) c.292A>T (p.Lys98Ter) c.247A>T (p.Lys83Ter) c.316A>T (p.Lys106Ter) c.212A>T n.25A>T c.255A>T c.173+90A>T c.24+90A>T (n.24+90A>T) | |
16 | g.2046190T>C | CA394295589 | NTHL1 | c.1A>G (p.Lys1Glu) c.292A>G (p.Lys98Glu) c.247A>G (p.Lys83Glu) c.316A>G (p.Lys106Glu) c.212A>G n.25A>G c.255A>G c.173+90A>G c.24+90A>G (n.24+90A>G) | COSMIC |
16 | g.2046190T>G | CA394295590 | NTHL1 | c.1A>C (p.Lys1Gln) c.292A>C (p.Lys98Gln) c.247A>C (p.Lys83Gln) c.316A>C (p.Lys106Gln) c.212A>C n.25A>C c.255A>C c.173+90A>C c.24+90A>C (n.24+90A>C) | |
16 | g.2046191T>A | CA276765610 | NTHL1 | c.291A>T (p.Lys97Asn) c.246A>T (p.Lys82Asn) c.315A>T (p.Lys105Asn) c.211A>T n.24A>T c.254A>T c.173+89A>T c.24+89A>T (n.24+89A>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046191T>C | CA492953244 | NTHL1 | c.291A>G (p.Lys97=) c.246A>G (p.Lys82=) c.315A>G (p.Lys105=) c.211A>G n.24A>G c.254A>G c.173+89A>G c.24+89A>G (n.24+89A>G) | ClinVar |
16 | g.2046191T>G | CA394295602 | NTHL1 | c.291A>C (p.Lys97Asn) c.246A>C (p.Lys82Asn) c.315A>C (p.Lys105Asn) c.211A>C n.24A>C c.254A>C c.173+89A>C c.24+89A>C (n.24+89A>C) | |
16 | g.2046191T= | CA2201986650 | NTHL1 | c.291A= (p.Lys97=) c.246A= (p.Lys82=) c.315A= (p.Lys105=) c.211A= n.24A= c.254A= c.173+89A= c.24+89A= (n.24+89A=) | |
16 | g.2046191_2046194delinsTTTG | CA2201986652 | NTHL1 | c.288_291delinsCAAA (p.Asn96=) c.243_246delinsCAAA (p.Asn81=) c.312_315delinsCAAA (p.Asn104=) c.208_211delinsCAAA n.21_24delinsCAAA c.251_254delinsCAAA c.173+86_173+89delinsCAAA c.24+86_24+89delinsCAAA (n.24+86_24+89delinsCAAA) | |
16 | g.2046192T>A | CA394295607 | NTHL1 | c.290A>T (p.Lys97Ile) c.245A>T (p.Lys82Ile) c.314A>T (p.Lys105Ile) c.210A>T n.23A>T c.253A>T c.173+88A>T c.24+88A>T (n.24+88A>T) | |
16 | g.2046192T>C | CA394295608 | NTHL1 | c.290A>G (p.Lys97Arg) c.245A>G (p.Lys82Arg) c.314A>G (p.Lys105Arg) c.210A>G n.23A>G c.253A>G c.173+88A>G c.24+88A>G (n.24+88A>G) | dbSNP gnomAD v2 |
16 | g.2046192T>G | CA394295609 | NTHL1 | c.290A>C (p.Lys97Thr) c.245A>C (p.Lys82Thr) c.314A>C (p.Lys105Thr) c.210A>C n.23A>C c.253A>C c.173+88A>C c.24+88A>C (n.24+88A>C) | ClinVar dbSNP |
16 | g.2046192T= | CA2201986654 | NTHL1 | c.290A= (p.Lys97=) c.245A= (p.Lys82=) c.314A= (p.Lys105=) c.210A= n.23A= c.253A= c.173+88A= c.24+88A= (n.24+88A=) | |
16 | g.2046194_2046196del | CA916081753 | NTHL1 | c.288_290del (p.Asn96del) c.243_245del (p.Asn81del) c.312_314del (p.Asn104del) c.208_210del n.21_23del c.251_253del c.173+86_173+88del c.24+86_24+88del (n.24+86_24+88del) | ClinVar dbSNP gnomAD v4 |
16 | g.2046193T>A | CA394295614 | NTHL1 | c.289A>T (p.Lys97Ter) c.244A>T (p.Lys82Ter) c.313A>T (p.Lys105Ter) c.209A>T n.22A>T c.252A>T c.173+87A>T c.24+87A>T (n.24+87A>T) | |
16 | g.2046193T>C | CA394295617 | NTHL1 | c.289A>G (p.Lys97Glu) c.244A>G (p.Lys82Glu) c.313A>G (p.Lys105Glu) c.209A>G n.22A>G c.252A>G c.173+87A>G c.24+87A>G (n.24+87A>G) | ClinVar |
16 | g.2046193T>G | CA394295631 | NTHL1 | c.289A>C (p.Lys97Gln) c.244A>C (p.Lys82Gln) c.313A>C (p.Lys105Gln) c.209A>C n.22A>C c.252A>C c.173+87A>C c.24+87A>C (n.24+87A>C) | |
16 | g.2046194del | CA2825002410 | NTHL1 | c.288del (p.Asn96LysfsTer?) c.243del (p.Asn81LysfsTer26) c.312del (p.Asn104LysfsTer?) c.208del n.21del c.251del c.173+86del c.312del (p.Asn104LysfsTer26) c.24+86del (n.24+86del) c.288del (p.Asn96LysfsTer26) | ClinVar |
16 | g.2046194G>A | CA492953245 | NTHL1 | c.288C>T (p.Asn96=) c.243C>T (p.Asn81=) c.312C>T (p.Asn104=) c.208C>T n.21C>T c.251C>T c.173+86C>T c.24+86C>T (n.24+86C>T) | ClinVar |
16 | g.2046194G>C | CA394295634 | NTHL1 | c.288C>G (p.Asn96Lys) c.243C>G (p.Asn81Lys) c.312C>G (p.Asn104Lys) c.208C>G n.21C>G c.251C>G c.173+86C>G c.24+86C>G (n.24+86C>G) | |
16 | g.2046194G>T | CA394295633 | NTHL1 | c.288C>A (p.Asn96Lys) c.243C>A (p.Asn81Lys) c.312C>A (p.Asn104Lys) c.208C>A n.21C>A c.251C>A c.173+86C>A c.24+86C>A (n.24+86C>A) | |
16 | g.2046195T>A | CA394295635 | NTHL1 | c.287A>T (p.Asn96Ile) c.242A>T (p.Asn81Ile) c.311A>T (p.Asn104Ile) c.207A>T n.20A>T c.250A>T c.173+85A>T c.24+85A>T (n.24+85A>T) | |
16 | g.2046195T>C | CA394295638 | NTHL1 | c.287A>G (p.Asn96Ser) c.242A>G (p.Asn81Ser) c.311A>G (p.Asn104Ser) c.207A>G n.20A>G c.250A>G c.173+85A>G c.24+85A>G (n.24+85A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.2046195T>G | CA394295644 | NTHL1 | c.287A>C (p.Asn96Thr) c.242A>C (p.Asn81Thr) c.311A>C (p.Asn104Thr) c.207A>C n.20A>C c.250A>C c.173+85A>C c.24+85A>C (n.24+85A>C) | |
16 | g.2046195T= | CA2201986657 | NTHL1 | c.287A= (p.Asn96=) c.242A= (p.Asn81=) c.311A= (p.Asn104=) c.207A= n.20A= c.250A= c.173+85A= c.24+85A= (n.24+85A=) | |
16 | g.2046196T>A | CA394295649 | NTHL1 | c.286A>T (p.Asn96Tyr) c.241A>T (p.Asn81Tyr) c.310A>T (p.Asn104Tyr) c.206A>T n.19A>T c.249A>T c.173+84A>T c.24+84A>T (n.24+84A>T) | |
16 | g.2046196T>C | CA394295670 | NTHL1 | c.286A>G (p.Asn96Asp) c.241A>G (p.Asn81Asp) c.310A>G (p.Asn104Asp) c.206A>G n.19A>G c.249A>G c.173+84A>G c.24+84A>G (n.24+84A>G) | |
16 | g.2046196T>G | CA394295675 | NTHL1 | c.286A>C (p.Asn96His) c.241A>C (p.Asn81His) c.310A>C (p.Asn104His) c.206A>C n.19A>C c.249A>C c.173+84A>C c.24+84A>C (n.24+84A>C) | |
16 | g.2046197C>A | CA394295679 | NTHL1 | c.285G>T (p.Arg95Ser) c.240G>T (p.Arg80Ser) c.309G>T (p.Arg103Ser) c.205G>T n.18G>T c.248G>T c.173+83G>T c.24+83G>T (n.24+83G>T) | ClinVar |
16 | g.2046197C= | CA2201986659 | NTHL1 | c.285G= (p.Arg95=) c.240G= (p.Arg80=) c.309G= (p.Arg103=) c.205G= n.18G= c.248G= c.173+83G= c.24+83G= (n.24+83G=) | |
16 | g.2046197C>G | CA394295683 | NTHL1 | c.285G>C (p.Arg95Ser) c.240G>C (p.Arg80Ser) c.309G>C (p.Arg103Ser) c.205G>C n.18G>C c.248G>C c.173+83G>C c.24+83G>C (n.24+83G>C) | dbSNP |
16 | g.2046197C>T | CA7828329 | NTHL1 | c.285G>A (p.Arg95=) c.240G>A (p.Arg80=) c.309G>A (p.Arg103=) c.205G>A n.18G>A c.248G>A c.173+83G>A c.24+83G>A (n.24+83G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046198C>A | CA394295689 | NTHL1 | c.284G>T (p.Arg95Met) c.239G>T (p.Arg80Met) c.308G>T (p.Arg103Met) c.204G>T n.17G>T c.247G>T c.173+82G>T c.24+82G>T (n.24+82G>T) | |
16 | g.2046198C= | CA2201986660 | NTHL1 | c.284G= (p.Arg95=) c.239G= (p.Arg80=) c.308G= (p.Arg103=) c.204G= n.17G= c.247G= c.173+82G= c.24+82G= (n.24+82G=) | |
16 | g.2046198C>G | CA394295693 | NTHL1 | c.284G>C (p.Arg95Thr) c.239G>C (p.Arg80Thr) c.308G>C (p.Arg103Thr) c.204G>C n.17G>C c.247G>C c.173+82G>C c.24+82G>C (n.24+82G>C) | dbSNP gnomAD v4 |
16 | g.2046198C>T | CA394295695 | NTHL1 | c.284G>A (p.Arg95Lys) c.239G>A (p.Arg80Lys) c.308G>A (p.Arg103Lys) c.204G>A n.17G>A c.247G>A c.173+82G>A c.24+82G>A (n.24+82G>A) | ClinVar dbSNP |
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.2046199T>A | CA394295699 | NTHL1 | c.283A>T (p.Arg95Trp) c.238A>T (p.Arg80Trp) c.307A>T (p.Arg103Trp) c.203A>T n.16A>T c.246A>T c.173+81A>T c.24+81A>T (n.24+81A>T) | |
16 | g.2046199T>C | CA394295701 | NTHL1 | c.283A>G (p.Arg95Gly) c.238A>G (p.Arg80Gly) c.307A>G (p.Arg103Gly) c.203A>G n.16A>G c.246A>G c.173+81A>G c.24+81A>G (n.24+81A>G) | ClinVar |
16 | g.2046199T>G | CA492953246 | NTHL1 | c.283A>C (p.Arg95=) c.238A>C (p.Arg80=) c.307A>C (p.Arg103=) c.203A>C n.16A>C c.246A>C c.173+81A>C c.24+81A>C (n.24+81A>C) | |
16 | g.2046200C>A | CA394295707 | NTHL1 | c.282G>T (p.Met94Ile) c.237G>T (p.Met79Ile) c.306G>T (p.Met102Ile) c.202G>T n.15G>T c.245G>T c.173+80G>T c.24+80G>T (n.24+80G>T) | |
16 | g.2046200C= | CA2201986663 | NTHL1 | c.282G= (p.Met94=) c.237G= (p.Met79=) c.306G= (p.Met102=) c.202G= n.15G= c.245G= c.173+80G= c.24+80G= (n.24+80G=) | |
16 | g.2046200C>G | CA394295709 | NTHL1 | c.282G>C (p.Met94Ile) c.237G>C (p.Met79Ile) c.306G>C (p.Met102Ile) c.202G>C n.15G>C c.245G>C c.173+80G>C c.24+80G>C (n.24+80G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046200C>T | CA394295714 | NTHL1 | c.282G>A (p.Met94Ile) c.237G>A (p.Met79Ile) c.306G>A (p.Met102Ile) c.202G>A n.15G>A c.245G>A c.173+80G>A c.24+80G>A (n.24+80G>A) | ClinVar dbSNP |
16 | g.2046201A= | CA2201986666 | NTHL1 | c.281T= (p.Met94=) c.236T= (p.Met79=) c.305T= (p.Met102=) c.201T= n.14T= c.244T= c.173+79T= c.24+79T= (n.24+79T=) | |
16 | g.2046201A>C | CA394295716 | NTHL1 | c.281T>G (p.Met94Arg) c.236T>G (p.Met79Arg) c.305T>G (p.Met102Arg) c.201T>G n.14T>G c.244T>G c.173+79T>G c.24+79T>G (n.24+79T>G) | dbSNP |
16 | g.2046201A>G | CA394295718 | NTHL1 | c.281T>C (p.Met94Thr) c.236T>C (p.Met79Thr) c.305T>C (p.Met102Thr) c.201T>C n.14T>C c.244T>C c.173+79T>C c.24+79T>C (n.24+79T>C) | ClinVar dbSNP |
16 | g.2046201A>T | CA394295722 | NTHL1 | c.281T>A (p.Met94Lys) c.236T>A (p.Met79Lys) c.305T>A (p.Met102Lys) c.201T>A n.14T>A c.244T>A c.173+79T>A c.24+79T>A (n.24+79T>A) | |
16 | g.2046202T>A | CA394295729 | NTHL1 | c.280A>T (p.Met94Leu) c.235A>T (p.Met79Leu) c.304A>T (p.Met102Leu) c.200A>T n.13A>T c.243A>T c.173+78A>T c.24+78A>T (n.24+78A>T) | |
16 | g.2046202T>C | CA394295734 | NTHL1 | c.280A>G (p.Met94Val) c.235A>G (p.Met79Val) c.304A>G (p.Met102Val) c.200A>G n.13A>G c.243A>G c.173+78A>G c.24+78A>G (n.24+78A>G) | ClinVar gnomAD v4 |
16 | g.2046202T>G | CA276765616 | NTHL1 | c.280A>C (p.Met94Leu) c.235A>C (p.Met79Leu) c.304A>C (p.Met102Leu) c.200A>C n.13A>C c.243A>C c.173+78A>C c.24+78A>C (n.24+78A>C) | dbSNP |
16 | g.2046202T= | CA2201986668 | NTHL1 | c.280A= (p.Met94=) c.235A= (p.Met79=) c.304A= (p.Met102=) c.200A= n.13A= c.243A= c.173+78A= c.24+78A= (n.24+78A=) | |
16 | g.2046203G>A | CA492953247 | NTHL1 | c.279C>T (p.Ala93=) c.234C>T (p.Ala78=) c.303C>T (p.Ala101=) c.199C>T n.12C>T c.242C>T c.173+77C>T c.24+77C>T (n.24+77C>T) | |
16 | g.2046203G>C | CA492953248 | NTHL1 | c.279C>G (p.Ala93=) c.234C>G (p.Ala78=) c.303C>G (p.Ala101=) c.199C>G n.12C>G c.242C>G c.173+77C>G c.24+77C>G (n.24+77C>G) | |
16 | g.2046203G>T | CA492953249 | NTHL1 | c.279C>A (p.Ala93=) c.234C>A (p.Ala78=) c.303C>A (p.Ala101=) c.199C>A n.12C>A c.242C>A c.173+77C>A c.24+77C>A (n.24+77C>A) | |
16 | g.2046204G>A | CA394296784 | NTHL1 | c.278C>T (p.Ala93Val) c.233C>T (p.Ala78Val) c.302C>T (p.Ala101Val) c.198C>T n.11C>T c.241C>T c.173+76C>T c.24+76C>T (n.24+76C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2046204G>C | CA394296754 | NTHL1 | c.278C>G (p.Ala93Gly) c.233C>G (p.Ala78Gly) c.302C>G (p.Ala101Gly) c.198C>G n.11C>G c.241C>G c.173+76C>G c.24+76C>G (n.24+76C>G) | |
16 | g.2046204G>T | CA394296783 | NTHL1 | c.278C>A (p.Ala93Asp) c.233C>A (p.Ala78Asp) c.302C>A (p.Ala101Asp) c.198C>A n.11C>A c.241C>A c.173+76C>A c.24+76C>A (n.24+76C>A) | |
16 | g.2046205C>A | CA394296787 | NTHL1 | c.277G>T (p.Ala93Ser) c.232G>T (p.Ala78Ser) c.301G>T (p.Ala101Ser) c.197G>T n.10G>T c.240G>T c.173+75G>T c.24+75G>T (n.24+75G>T) | |
16 | g.2046205C= | CA2201986670 | NTHL1 | c.277G= (p.Ala93=) c.232G= (p.Ala78=) c.301G= (p.Ala101=) c.197G= n.10G= c.240G= c.173+75G= c.24+75G= (n.24+75G=) | |
16 | g.2046205C>G | CA394296788 | NTHL1 | c.277G>C (p.Ala93Pro) c.232G>C (p.Ala78Pro) c.301G>C (p.Ala101Pro) c.197G>C n.10G>C c.240G>C c.173+75G>C c.24+75G>C (n.24+75G>C) | |
16 | g.2046205C>T | CA7828330 | NTHL1 | c.277G>A (p.Ala93Thr) c.232G>A (p.Ala78Thr) c.301G>A (p.Ala101Thr) c.197G>A n.10G>A c.240G>A c.173+75G>A c.24+75G>A (n.24+75G>A) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2046206A>C | CA492953287 | NTHL1 | c.276T>G (p.Arg92=) c.231T>G (p.Arg77=) c.300T>G (p.Arg100=) c.196T>G n.9T>G c.239T>G c.173+74T>G c.24+74T>G (n.24+74T>G) | ClinVar |
16 | g.2046206A>G | CA492953289 | NTHL1 | c.276T>C (p.Arg92=) c.231T>C (p.Arg77=) c.300T>C (p.Arg100=) c.196T>C n.9T>C c.239T>C c.173+74T>C c.24+74T>C (n.24+74T>C) | |
16 | g.2046206A>T | CA492953288 | NTHL1 | c.276T>A (p.Arg92=) c.231T>A (p.Arg77=) c.300T>A (p.Arg100=) c.196T>A n.9T>A c.239T>A c.173+74T>A c.24+74T>A (n.24+74T>A) | |
16 | g.2046207C>A | CA394296793 | NTHL1 | c.275G>T (p.Arg92Leu) c.230G>T (p.Arg77Leu) c.299G>T (p.Arg100Leu) c.195G>T n.8G>T c.238G>T c.173+73G>T c.24+73G>T (n.24+73G>T) | ClinVar dbSNP |
16 | g.2046207C= | CA2201986674 | NTHL1 | c.275G= (p.Arg92=) c.230G= (p.Arg77=) c.299G= (p.Arg100=) c.195G= n.8G= c.238G= c.173+73G= c.24+73G= (n.24+73G=) | |
16 | g.2046207C>G | CA394296795 | NTHL1 | c.275G>C (p.Arg92Pro) c.230G>C (p.Arg77Pro) c.299G>C (p.Arg100Pro) c.195G>C n.8G>C c.238G>C c.173+73G>C c.24+73G>C (n.24+73G>C) | ClinVar dbSNP |
16 | g.2046207C>T | CA7828331 | NTHL1 | c.275G>A (p.Arg92His) c.230G>A (p.Arg77His) c.299G>A (p.Arg100His) c.195G>A n.8G>A c.238G>A c.173+73G>A c.24+73G>A (n.24+73G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046208G>A | CA7828332 | NTHL1 | c.274C>T (p.Arg92Cys) c.229C>T (p.Arg77Cys) c.298C>T (p.Arg100Cys) c.194C>T n.7C>T c.237C>T c.173+72C>T c.24+72C>T (n.24+72C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046208G>C | CA394296802 | NTHL1 | c.274C>G (p.Arg92Gly) c.229C>G (p.Arg77Gly) c.298C>G (p.Arg100Gly) c.194C>G n.7C>G c.237C>G c.173+72C>G c.24+72C>G (n.24+72C>G) | dbSNP |
16 | g.2046208G= | CA2201986678 | NTHL1 | c.274C= (p.Arg92=) c.229C= (p.Arg77=) c.298C= (p.Arg100=) c.194C= n.7C= c.237C= c.173+72C= c.24+72C= (n.24+72C=) | |
16 | g.2046208G>T | CA394296807 | NTHL1 | c.274C>A (p.Arg92Ser) c.229C>A (p.Arg77Ser) c.298C>A (p.Arg100Ser) c.194C>A n.7C>A c.237C>A c.173+72C>A c.24+72C>A (n.24+72C>A) | |
16 | g.2046209G>A | CA7828333 | NTHL1 | c.273C>T (p.Ile91=) c.228C>T (p.Ile76=) c.297C>T (p.Ile99=) c.193C>T n.6C>T c.236C>T c.173+71C>T c.24+71C>T (n.24+71C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046209G>C | CA394296808 | NTHL1 | c.273C>G (p.Ile91Met) c.228C>G (p.Ile76Met) c.297C>G (p.Ile99Met) c.193C>G n.6C>G c.236C>G c.173+71C>G c.24+71C>G (n.24+71C>G) | dbSNP |
16 | g.2046209G= | CA2201986682 | NTHL1 | c.273C= (p.Ile91=) c.228C= (p.Ile76=) c.297C= (p.Ile99=) c.193C= n.6C= c.236C= c.173+71C= c.24+71C= (n.24+71C=) | |
16 | g.2046209G>T | CA492953291 | NTHL1 | c.273C>A (p.Ile91=) c.228C>A (p.Ile76=) c.297C>A (p.Ile99=) c.193C>A n.6C>A c.236C>A c.173+71C>A c.24+71C>A (n.24+71C>A) | |
16 | g.2046210A>C | CA394296811 | NTHL1 | c.272T>G (p.Ile91Ser) c.227T>G (p.Ile76Ser) c.296T>G (p.Ile99Ser) c.192T>G n.5T>G c.235T>G c.173+70T>G c.24+70T>G (n.24+70T>G) | |
16 | g.2046210A>G | CA394296844 | NTHL1 | c.272T>C (p.Ile91Thr) c.227T>C (p.Ile76Thr) c.296T>C (p.Ile99Thr) c.192T>C n.5T>C c.235T>C c.173+70T>C c.24+70T>C (n.24+70T>C) | |
16 | g.2046210A>T | CA394296823 | NTHL1 | c.272T>A (p.Ile91Asn) c.227T>A (p.Ile76Asn) c.296T>A (p.Ile99Asn) c.192T>A n.5T>A c.235T>A c.173+70T>A c.24+70T>A (n.24+70T>A) | dbSNP gnomAD v4 |
16 | g.2046211T>A | CA394296852 | NTHL1 | c.271A>T (p.Ile91Phe) c.226A>T (p.Ile76Phe) c.295A>T (p.Ile99Phe) c.191A>T n.4A>T c.234A>T c.173+69A>T c.24+69A>T (n.24+69A>T) | |
16 | g.2046211T>C | CA394296854 | NTHL1 | c.271A>G (p.Ile91Val) c.226A>G (p.Ile76Val) c.295A>G (p.Ile99Val) c.191A>G n.4A>G c.234A>G c.173+69A>G c.24+69A>G (n.24+69A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.2046211T>G | CA394296855 | NTHL1 | c.271A>C (p.Ile91Leu) c.226A>C (p.Ile76Leu) c.295A>C (p.Ile99Leu) c.191A>C n.4A>C c.234A>C c.173+69A>C c.24+69A>C (n.24+69A>C) | |
16 | g.2046212G>A | CA492953293 | NTHL1 | c.270C>T (p.Asn90=) c.225C>T (p.Asn75=) c.294C>T (p.Asn98=) c.190C>T n.3C>T c.233C>T c.173+68C>T c.24+68C>T (n.24+68C>T) | ClinVar |
16 | g.2046212G>C | CA394296863 | NTHL1 | c.270C>G (p.Asn90Lys) c.225C>G (p.Asn75Lys) c.294C>G (p.Asn98Lys) c.190C>G n.3C>G c.233C>G c.173+68C>G c.24+68C>G (n.24+68C>G) | |
16 | g.2046212G>T | CA394296894 | NTHL1 | c.270C>A (p.Asn90Lys) c.225C>A (p.Asn75Lys) c.294C>A (p.Asn98Lys) c.190C>A n.3C>A c.233C>A c.173+68C>A c.24+68C>A (n.24+68C>A) | |
16 | g.2046213T>A | CA394296898 | NTHL1 | c.269A>T (p.Asn90Ile) c.224A>T (p.Asn75Ile) c.293A>T (p.Asn98Ile) c.189A>T n.2A>T c.232A>T c.173+67A>T c.24+67A>T (n.24+67A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046213T>C | CA394296901 | NTHL1 | c.269A>G (p.Asn90Ser) c.224A>G (p.Asn75Ser) c.293A>G (p.Asn98Ser) c.189A>G n.2A>G c.232A>G c.173+67A>G c.24+67A>G (n.24+67A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2046213T>G | CA394296903 | NTHL1 | c.269A>C (p.Asn90Thr) c.224A>C (p.Asn75Thr) c.293A>C (p.Asn98Thr) c.189A>C n.2A>C c.232A>C c.173+67A>C c.24+67A>C (n.24+67A>C) | |
16 | g.2046213T= | CA2201986687 | NTHL1 | c.269A= (p.Asn90=) c.224A= (p.Asn75=) c.293A= (p.Asn98=) c.189A= n.2A= c.232A= c.173+67A= c.24+67A= (n.24+67A=) | |
16 | g.2046214T>A | CA394296933 | NTHL1 | c.268A>T (p.Asn90Tyr) c.223A>T (p.Asn75Tyr) c.292A>T (p.Asn98Tyr) c.188A>T n.1A>T c.231A>T c.173+66A>T c.24+66A>T (n.24+66A>T) | |
16 | g.2046214T>C | CA7828334 | NTHL1 | c.268A>G (p.Asn90Asp) c.223A>G (p.Asn75Asp) c.292A>G (p.Asn98Asp) c.188A>G n.1A>G c.231A>G c.173+66A>G c.24+66A>G (n.24+66A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2046214T>G | CA394296970 | NTHL1 | c.268A>C (p.Asn90His) c.223A>C (p.Asn75His) c.292A>C (p.Asn98His) c.188A>C n.1A>C c.231A>C c.173+66A>C c.24+66A>C (n.24+66A>C) | |
16 | g.2046214T= | CA2201986692 | NTHL1 | c.268A= (p.Asn90=) c.223A= (p.Asn75=) c.292A= (p.Asn98=) c.188A= n.1A= c.231A= c.173+66A= c.24+66A= (n.24+66A=) | |
16 | g.2046215G>A | CA492953295 | NTHL1 | c.267C>T (p.Val89=) c.222C>T (p.Val74=) c.291C>T (p.Val97=) c.187C>T c.230C>T c.173+65C>T c.24+65C>T (n.24+65C>T) | |
16 | g.2046215G>C | CA492953296 | NTHL1 | c.267C>G (p.Val89=) c.222C>G (p.Val74=) c.291C>G (p.Val97=) c.187C>G c.230C>G c.173+65C>G c.24+65C>G (n.24+65C>G) | ClinVar |
16 | g.2046215G>T | CA492953297 | NTHL1 | c.267C>A (p.Val89=) c.222C>A (p.Val74=) c.291C>A (p.Val97=) c.187C>A c.230C>A c.173+65C>A c.24+65C>A (n.24+65C>A) |