| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.95154620C>T | CA118354 | BMPR1B | c.1546C>T (p.Arg516Trp) c.1456C>T (p.Arg486Trp) | ClinVar dbSNP |
| 4 | g.95154620C= | CA1477970155 | BMPR1B | c.1546C= (p.Arg516=) c.1456C= (p.Arg486=) | dbSNP |
| 4 | g.95154620C>A | CA440414821 | BMPR1B | c.1546C>A (p.Arg516=) c.1456C>A (p.Arg486=) | dbSNP gnomAD v4 |