| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31871532C>T | CA3725651 | SLC44A4 | c.559G>A (p.Val187Ile) c.433G>A (p.Val145Ile) c.546G>A c.331G>A (p.Val111Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31871532C>A | CA363375201 | SLC44A4 | c.559G>T (p.Val187Phe) c.433G>T (p.Val145Phe) c.546G>T c.331G>T (p.Val111Phe) | dbSNP |
| 6 | g.31871532C= | CA1619336454 | SLC44A4 | c.559G= (p.Val187=) c.433G= (p.Val145=) c.546G= c.331G= (p.Val111=) | dbSNP |
| 6 | g.31871532C>G | CA363375203 | SLC44A4 | c.559G>C (p.Val187Leu) c.433G>C (p.Val145Leu) c.546G>C c.331G>C (p.Val111Leu) | dbSNP |