| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.163475510T>G | CA362066481 | HMMR | c.1106T>G (p.Val369Gly) c.1058T>G (p.Val353Gly) c.1103T>G (p.Val368Gly) c.845T>G (p.Val282Gly) | dbSNP |
| 5 | g.163475510T>A | CA362066478 | HMMR | c.1106T>A (p.Val369Asp) c.1058T>A (p.Val353Asp) c.1103T>A (p.Val368Asp) c.845T>A (p.Val282Asp) | dbSNP gnomAD v4 |
| 5 | g.163475510T>C | CA3545812 | HMMR | c.1106T>C (p.Val369Ala) c.1058T>C (p.Val353Ala) c.1103T>C (p.Val368Ala) c.845T>C (p.Val282Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.163475510T= | CA1597025962 | HMMR | c.1106T= (p.Val369=) c.1058T= (p.Val353=) c.1103T= (p.Val368=) c.845T= (p.Val282=) | dbSNP |