| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.33054001T>G | CA6944025 | KL | c.1054T>G (p.Phe352Val) n.1062T>G c.133T>G (p.Phe45Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.33054001T>A | CA247528421 | KL | c.1054T>A (p.Phe352Ile) n.1062T>A c.133T>A (p.Phe45Ile) | dbSNP |
| 13 | g.33054001T= | CA1630855914 | KL | c.1054T= (p.Phe352=) n.1062T= c.133T= (p.Phe45=) | dbSNP |