| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.95987153C>T | CA6727755 | HAL | c.965G>A (p.Arg322Gln) c.341G>A (p.Arg114Gln) c.*394G>A (n.*394G>A) c.929G>A (p.Arg310Gln) c.113G>A (p.Arg38Gln) c.35G>A (p.Arg12Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.95987153C>G | CA115146 | HAL | c.965G>C (p.Arg322Pro) c.341G>C (p.Arg114Pro) c.*394G>C (n.*394G>C) c.929G>C (p.Arg310Pro) c.113G>C (p.Arg38Pro) c.35G>C (p.Arg12Pro) | ClinVar dbSNP gnomAD v4 |