| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.37066896A>T | CA10215308 | TMPRSS6 | c.2180T>A (p.Val727Asp) c.2246T>A (p.Val749Asp) c.2207T>A (p.Val736Asp) c.1814T>A (p.Val605Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37066896A>G | CA10215307 | TMPRSS6 | c.2180T>C (p.Val727Ala) c.2246T>C (p.Val749Ala) c.2207T>C (p.Val736Ala) c.1814T>C (p.Val605Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37066896A>C | CA411417525 | TMPRSS6 | c.2180T>G (p.Val727Gly) c.2246T>G (p.Val749Gly) c.2207T>G (p.Val736Gly) c.1814T>G (p.Val605Gly) | dbSNP |
| 22 | g.37066896A= | CA2404166477 | TMPRSS6 | c.2180T= (p.Val727=) c.2246T= (p.Val749=) c.2207T= (p.Val736=) c.1814T= (p.Val605=) | dbSNP |