| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56231415C>T | CA6626964 | SLC39A5 | c.141C>T (p.Tyr47=) c.54C>T (p.Tyr18=) n.61-51C>T c.-638C>T (n.-638C>T) n.329C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56231415C>G | CA170558 | SLC39A5 | c.141C>G (p.Tyr47Ter) c.54C>G (p.Tyr18Ter) n.61-51C>G c.-638C>G (n.-638C>G) n.329C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56231415C>A | CA6626963 | SLC39A5 | c.141C>A (p.Tyr47Ter) c.54C>A (p.Tyr18Ter) n.61-51C>A c.-638C>A (n.-638C>A) n.329C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |