| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.144415966G>T | CA116335 | SLC39A4 | c.318C>A (p.Asn106Lys) c.243C>A (p.Asn81Lys) c.193-547C>A (n.193-547C>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.144415966G>A | CA463556632 | SLC39A4 | c.318C>T (p.Asn106=) c.243C>T (p.Asn81=) c.193-547C>T (n.193-547C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.144415966G= | CA1826308095 | SLC39A4 | c.318C= (p.Asn106=) c.243C= (p.Asn81=) c.193-547C= (n.193-547C=) | dbSNP |
| 8 | g.144415966G>C | CA372625390 | SLC39A4 | c.318C>G (p.Asn106Lys) c.243C>G (p.Asn81Lys) c.193-547C>G (n.193-547C>G) | dbSNP gnomAD v4 |