| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.37073551G>C | CA411420748 | TMPRSS6 | c.1536C>G (p.Asp512Glu) c.1563C>G (p.Asp521Glu) c.1104C>G (p.Asp368Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37073551G>A | CA10215572 | TMPRSS6 | c.1536C>T (p.Asp512=) c.1563C>T (p.Asp521=) c.1104C>T (p.Asp368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37073551G>T | CA411420750 | TMPRSS6 | c.1536C>A (p.Asp512Glu) c.1563C>A (p.Asp521Glu) c.1104C>A (p.Asp368Glu) | dbSNP gnomAD v4 |