| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.118884844A>G | CA1034785 | TBX15 | c.1697T>C (p.Met566Thr) c.1379T>C (p.Met460Thr) c.881T>C (p.Met294Thr) c.1796T>C (p.Met599Thr) c.851T>C (p.Met284Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.118884844A>C | CA1034784 | TBX15 | c.1697T>G (p.Met566Arg) c.1379T>G (p.Met460Arg) c.881T>G (p.Met294Arg) c.1796T>G (p.Met599Arg) c.851T>G (p.Met284Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.118884844A= | CA1140724096 | TBX15 | c.1697T= (p.Met566=) c.1379T= (p.Met460=) c.881T= (p.Met294=) c.1796T= (p.Met599=) c.851T= (p.Met284=) | dbSNP |