Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917188C>T | CA16619004 | BMPR1A | c.730C>T (p.Arg244Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.86917188C>G | CA5585595 | BMPR1A | c.730C>G (p.Arg244Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86917188C>A | CA470307988 | BMPR1A | c.730C>A (p.Arg244=) | ClinVar dbSNP |
10 | g.86917188C= | CA1925725651 | BMPR1A | c.730C= (p.Arg244=) | dbSNP |