| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154454494A>C | CA124179 | IL6R | c.1073A>C (p.Asp358Ala) c.1066+4514A>C (n.1066+4514A>C) n.386A>C n.271A>C c.481A>C c.924+4514A>C (n.924+4514A>C) c.931A>C (p.Ile311Leu) c.1121A>C (p.Asp374Ala) c.1114+4514A>C (n.1114+4514A>C) c.1220A>C (p.Asp407Ala) c.1172A>C (p.Asp391Ala) c.1030A>C (p.Ile344Leu) c.1166A>C (p.Asp389Ala) c.1067A>C (p.Asp356Ala) c.713A>C (p.Asp238Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154454494A>T | CA30809737 | IL6R | c.1073A>T (p.Asp358Val) c.1066+4514A>T (n.1066+4514A>T) n.386A>T n.271A>T c.481A>T c.924+4514A>T (n.924+4514A>T) c.931A>T (p.Ile311Phe) c.1121A>T (p.Asp374Val) c.1114+4514A>T (n.1114+4514A>T) c.1220A>T (p.Asp407Val) c.1172A>T (p.Asp391Val) c.1030A>T (p.Ile344Phe) c.1166A>T (p.Asp389Val) c.1067A>T (p.Asp356Val) c.713A>T (p.Asp238Val) | dbSNP |