| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |