| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10359299A>G | CA403999940 | TYK2 | c.*400T>C (n.*400T>C) c.2051T>C (p.Ile684Thr) n.2382T>C n.2465T>C c.*1602T>C (n.*1602T>C) c.*93T>C (n.*93T>C) c.*111T>C (n.*111T>C) c.1496T>C (p.Ile499Thr) c.340T>C c.1754T>C (p.Ile585Thr) c.725T>C (p.Ile242Thr) c.308T>C (p.Ile103Thr) n.2208T>C n.2320T>C n.2089T>C c.1865T>C (p.Ile622Thr) c.1853T>C (p.Ile618Thr) c.1967T>C (p.Ile656Thr) c.1961T>C (p.Ile654Thr) c.1925T>C (p.Ile642Thr) c.2033T>C (p.Ile678Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10359299A>C | CA9193192 | TYK2 | c.*400T>G (n.*400T>G) c.2051T>G (p.Ile684Ser) n.2382T>G n.2465T>G c.*1602T>G (n.*1602T>G) c.*93T>G (n.*93T>G) c.*111T>G (n.*111T>G) c.1496T>G (p.Ile499Ser) c.340T>G c.1754T>G (p.Ile585Ser) c.725T>G (p.Ile242Ser) c.308T>G (p.Ile103Ser) n.2208T>G n.2320T>G n.2089T>G c.1865T>G (p.Ile622Ser) c.1853T>G (p.Ile618Ser) c.1967T>G (p.Ile656Ser) c.1961T>G (p.Ile654Ser) c.1925T>G (p.Ile642Ser) c.2033T>G (p.Ile678Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10359299A>T | CA403999941 | TYK2 | c.*400T>A (n.*400T>A) c.2051T>A (p.Ile684Asn) n.2382T>A n.2465T>A c.*1602T>A (n.*1602T>A) c.*93T>A (n.*93T>A) c.*111T>A (n.*111T>A) c.1496T>A (p.Ile499Asn) c.340T>A c.1754T>A (p.Ile585Asn) c.725T>A (p.Ile242Asn) c.308T>A (p.Ile103Asn) n.2208T>A n.2320T>A n.2089T>A c.1865T>A (p.Ile622Asn) c.1853T>A (p.Ile618Asn) c.1967T>A (p.Ile656Asn) c.1961T>A (p.Ile654Asn) c.1925T>A (p.Ile642Asn) c.2033T>A (p.Ile678Asn) | dbSNP |
| 19 | g.10359299A= | CA2322390534 | TYK2 | c.*400T= (n.*400T=) c.2051T= (p.Ile684=) n.2382T= n.2465T= c.*1602T= (n.*1602T=) c.*93T= (n.*93T=) c.*111T= (n.*111T=) c.1496T= (p.Ile499=) c.340T= c.1754T= (p.Ile585=) c.725T= (p.Ile242=) c.308T= (p.Ile103=) n.2208T= n.2320T= n.2089T= c.1865T= (p.Ile622=) c.1853T= (p.Ile618=) c.1967T= (p.Ile656=) c.1961T= (p.Ile654=) c.1925T= (p.Ile642=) c.2033T= (p.Ile678=) | dbSNP |