| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.157774114C>T | CA128036 | ACVR1 | c.617G>A (p.Arg206His) n.634G>A | ClinVar dbSNP COSMIC |
| 2 | g.157774114C>G | CA1919112 | ACVR1 | c.617G>C (p.Arg206Pro) n.634G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.157774114C>A | CA349192547 | ACVR1 | c.617G>T (p.Arg206Leu) n.634G>T | dbSNP gnomAD v4 |
| 2 | g.157774114C= | CA1301099875 | ACVR1 | c.617G= (p.Arg206=) n.634G= | dbSNP |