UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.93585305C>A | CA360525920 | NR2F1 | c.207C>A (p.Ser69Arg) c.282C>A (p.Ser94Arg) c.129C>A (p.Ser43Arg) | ClinVar gnomAD v4 |
| 5 | g.93585305C= | CA1564182819 | NR2F1 | c.207C= (p.Ser69=) c.282C= (p.Ser94=) c.129C= (p.Ser43=) | |
| 5 | g.93585305C>G | CA360525921 | NR2F1 | c.207C>G (p.Ser69Arg) c.282C>G (p.Ser94Arg) c.129C>G (p.Ser43Arg) | |
| 5 | g.93585305C>T | CA445722172 | NR2F1 | c.207C>T (p.Ser69=) c.282C>T (p.Ser94=) c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.93585306G>A | CA360525922 | NR2F1 | c.208G>A (p.Gly70Ser) c.283G>A (p.Gly95Ser) c.130G>A (p.Gly44Ser) | |
| 5 | g.93585306G>C | CA360525924 | NR2F1 | c.208G>C (p.Gly70Arg) c.283G>C (p.Gly95Arg) c.130G>C (p.Gly44Arg) | |
| 5 | g.93585306G>T | CA360525923 | NR2F1 | c.208G>T (p.Gly70Cys) c.283G>T (p.Gly95Cys) c.130G>T (p.Gly44Cys) | |
| 5 | g.93585307G>A | CA360525925 | NR2F1 | c.209G>A (p.Gly70Asp) c.284G>A (p.Gly95Asp) c.131G>A (p.Gly44Asp) | ClinVar gnomAD v4 |
| 5 | g.93585307G>C | CA360525926 | NR2F1 | c.209G>C (p.Gly70Ala) c.284G>C (p.Gly95Ala) c.131G>C (p.Gly44Ala) | |
| 5 | g.93585307G>T | CA360525927 | NR2F1 | c.209G>T (p.Gly70Val) c.284G>T (p.Gly95Val) c.131G>T (p.Gly44Val) | dbSNP |
| 5 | g.93585308C>A | CA123266252 | NR2F1 | c.210C>A (p.Gly70=) c.285C>A (p.Gly95=) c.132C>A (p.Gly44=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.93585308C= | CA1564182820 | NR2F1 | c.210C= (p.Gly70=) c.285C= (p.Gly95=) c.132C= (p.Gly44=) | |
| 5 | g.93585308C>G | CA445722182 | NR2F1 | c.210C>G (p.Gly70=) c.285C>G (p.Gly95=) c.132C>G (p.Gly44=) | |
| 5 | g.93585308C>T | CA445722184 | NR2F1 | c.210C>T (p.Gly70=) c.285C>T (p.Gly95=) c.132C>T (p.Gly44=) | |
| 5 | g.93585309A>C | CA360525928 | NR2F1 | c.211A>C (p.Lys71Gln) c.286A>C (p.Lys96Gln) c.133A>C (p.Lys45Gln) | |
| 5 | g.93585309A>G | CA360525930 | NR2F1 | c.211A>G (p.Lys71Glu) c.286A>G (p.Lys96Glu) c.133A>G (p.Lys45Glu) | ClinVar dbSNP |
| 5 | g.93585309A>T | CA360525929 | NR2F1 | c.211A>T (p.Lys71Ter) c.286A>T (p.Lys96Ter) c.133A>T (p.Lys45Ter) | |
| 5 | g.93585310A>C | CA360525931 | NR2F1 | c.212A>C (p.Lys71Thr) c.287A>C (p.Lys96Thr) c.134A>C (p.Lys45Thr) | |
| 5 | g.93585310A>G | CA360525932 | NR2F1 | c.212A>G (p.Lys71Arg) c.287A>G (p.Lys96Arg) c.134A>G (p.Lys45Arg) | |
| 5 | g.93585310A>T | CA360525933 | NR2F1 | c.212A>T (p.Lys71Met) c.287A>T (p.Lys96Met) c.134A>T (p.Lys45Met) | |
| 5 | g.93585311G>A | CA445722193 | NR2F1 | c.213G>A (p.Lys71=) c.288G>A (p.Lys96=) c.135G>A (p.Lys45=) | ClinVar dbSNP |
| 5 | g.93585311G>C | CA360525934 | NR2F1 | c.213G>C (p.Lys71Asn) c.288G>C (p.Lys96Asn) c.135G>C (p.Lys45Asn) | |
| 5 | g.93585311G= | CA1564182821 | NR2F1 | c.213G= (p.Lys71=) c.288G= (p.Lys96=) c.135G= (p.Lys45=) | |
| 5 | g.93585311G>T | CA360525935 | NR2F1 | c.213G>T (p.Lys71Asn) c.288G>T (p.Lys96Asn) c.135G>T (p.Lys45Asn) | |
| 5 | g.93585312C>A | CA360525936 | NR2F1 | c.214C>A (p.His72Asn) c.289C>A (p.His97Asn) c.136C>A (p.His46Asn) | |
| 5 | g.93585312C= | CA1564182822 | NR2F1 | c.214C= (p.His72=) c.289C= (p.His97=) c.136C= (p.His46=) | |
| 5 | g.93585312C>G | CA360525937 | NR2F1 | c.214C>G (p.His72Asp) c.289C>G (p.His97Asp) c.136C>G (p.His46Asp) | ClinVar dbSNP |
| 5 | g.93585312C>T | CA360525938 | NR2F1 | c.214C>T (p.His72Tyr) c.289C>T (p.His97Tyr) c.136C>T (p.His46Tyr) | ClinVar dbSNP gnomAD v2 |
| 5 | g.93585313A= | CA1564182823 | NR2F1 | c.215A= (p.His72=) c.290A= (p.His97=) c.137A= (p.His46=) | |
| 5 | g.93585313A>C | CA360525939 | NR2F1 | c.215A>C (p.His72Pro) c.290A>C (p.His97Pro) c.137A>C (p.His46Pro) | ClinVar dbSNP |
| 5 | g.93585313A>G | CA360525940 | NR2F1 | c.215A>G (p.His72Arg) c.290A>G (p.His97Arg) c.137A>G (p.His46Arg) | COSMIC |
| 5 | g.93585313A>T | CA360525941 | NR2F1 | c.215A>T (p.His72Leu) c.290A>T (p.His97Leu) c.137A>T (p.His46Leu) | |
| 5 | g.93585314del | CA2573130305 | NR2F1 | c.216del (p.Tyr73ThrfsTer21) c.291del (p.Tyr98ThrfsTer21) c.138del (p.Tyr47ThrfsTer21) | |
| 5 | g.93585314C>A | CA360525942 | NR2F1 | c.216C>A (p.His72Gln) c.291C>A (p.His97Gln) c.138C>A (p.His46Gln) | |
| 5 | g.93585314C= | CA1564182824 | NR2F1 | c.216C= (p.His72=) c.291C= (p.His97=) c.138C= (p.His46=) | |
| 5 | g.93585314C>G | CA360525943 | NR2F1 | c.216C>G (p.His72Gln) c.291C>G (p.His97Gln) c.138C>G (p.His46Gln) | |
| 5 | g.93585314C>T | CA3343119 | NR2F1 | c.216C>T (p.His72=) c.291C>T (p.His97=) c.138C>T (p.His46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.93585314_93585317dup | CA2580073788 | NR2F1 | c.216_219dup (p.Gly74LeufsTer?) c.291_294dup (p.Gly99LeufsTer?) c.138_141dup (p.Gly48LeufsTer?) | ClinVar |
| 5 | g.93585315T>A | CA360525944 | NR2F1 | c.217T>A (p.Tyr73Asn) c.292T>A (p.Tyr98Asn) c.139T>A (p.Tyr47Asn) | |
| 5 | g.93585315T>C | CA360525946 | NR2F1 | c.217T>C (p.Tyr73His) c.292T>C (p.Tyr98His) c.139T>C (p.Tyr47His) | ClinVar dbSNP |
| 5 | g.93585315T>G | CA360525945 | NR2F1 | c.217T>G (p.Tyr73Asp) c.292T>G (p.Tyr98Asp) c.139T>G (p.Tyr47Asp) | |
| 5 | g.93585316A>C | CA360525947 | NR2F1 | c.218A>C (p.Tyr73Ser) c.293A>C (p.Tyr98Ser) c.140A>C (p.Tyr47Ser) | |
| 5 | g.93585316A>G | CA360525949 | NR2F1 | c.218A>G (p.Tyr73Cys) c.293A>G (p.Tyr98Cys) c.140A>G (p.Tyr47Cys) | |
| 5 | g.93585316A>T | CA360525948 | NR2F1 | c.218A>T (p.Tyr73Phe) c.293A>T (p.Tyr98Phe) c.140A>T (p.Tyr47Phe) | |
| 5 | g.93585317C>A | CA360525950 | NR2F1 | c.219C>A (p.Tyr73Ter) c.294C>A (p.Tyr98Ter) c.141C>A (p.Tyr47Ter) | |
| 5 | g.93585317C= | CA1564182825 | NR2F1 | c.219C= (p.Tyr73=) c.294C= (p.Tyr98=) c.141C= (p.Tyr47=) | |
| 5 | g.93585317C>G | CA360525951 | NR2F1 | c.219C>G (p.Tyr73Ter) c.294C>G (p.Tyr98Ter) c.141C>G (p.Tyr47Ter) | |
| 5 | g.93585317C>T | CA3343120 | NR2F1 | c.219C>T (p.Tyr73=) c.294C>T (p.Tyr98=) c.141C>T (p.Tyr47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.93585318G>A | CA360525952 | NR2F1 | c.220G>A (p.Gly74Ser) c.295G>A (p.Gly99Ser) c.142G>A (p.Gly48Ser) | |
| 5 | g.93585318G>C | CA360525953 | NR2F1 | c.220G>C (p.Gly74Arg) c.295G>C (p.Gly99Arg) c.142G>C (p.Gly48Arg) |