| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32293475T>G | CA3740512 | TSBP1,TSBP1-AS1 | c.1192A>C (p.Lys398Gln) c.1195A>C (p.Lys399Gln) c.1171A>C (p.Lys391Gln) c.1198A>C (p.Lys400Gln) c.1150A>C (p.Lys384Gln) c.1183A>C (p.Lys395Gln) c.1252A>C (p.Lys418Gln) c.1231A>C (p.Lys411Gln) c.1228A>C (p.Lys410Gln) c.1210A>C (p.Lys404Gln) c.1174A>C (p.Lys392Gln) c.1153A>C (p.Lys385Gln) c.421+30666T>G (n.421+30666T>G) n.440+30666T>G n.242+38061T>G c.916A>C (p.Lys306Gln) c.1330A>C (p.Lys444Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32293475T= | CA1619500842 | TSBP1,TSBP1-AS1 | c.1192A= (p.Lys398=) c.1195A= (p.Lys399=) c.1171A= (p.Lys391=) c.1198A= (p.Lys400=) c.1150A= (p.Lys384=) c.1183A= (p.Lys395=) c.1252A= (p.Lys418=) c.1231A= (p.Lys411=) c.1228A= (p.Lys410=) c.1210A= (p.Lys404=) c.1174A= (p.Lys392=) c.1153A= (p.Lys385=) c.421+30666T= (n.421+30666T=) n.440+30666T= n.242+38061T= c.916A= (p.Lys306=) c.1330A= (p.Lys444=) | dbSNP |