Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202552837A>C | CA350344862 | BMPR2 | c.1535A>C (p.Lys512Thr) c.1466A>C (p.Lys489Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.202552837A>G | CA350344863 | BMPR2 | c.1535A>G (p.Lys512Arg) c.1466A>G (p.Lys489Arg) | ClinVar dbSNP |