| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132340627C>T | CA117718 | MIR3936HG,SLC22A4 | c.1507C>T (p.Leu503Phe) n.561-5701G>A c.979C>T (p.Leu327Phe) c.1231C>T (p.Leu411Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.132340627C= | CA1583125029 | MIR3936HG,SLC22A4 | c.1507C= (p.Leu503=) n.561-5701G= c.979C= (p.Leu327=) c.1231C= (p.Leu411=) | dbSNP |