| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.95980836C>G | CA386086533 | HAL | c.1315G>C (p.Val439Leu) c.691G>C (p.Val231Leu) c.*744G>C (n.*744G>C) c.463G>C (p.Val155Leu) c.385G>C (p.Val129Leu) | dbSNP |
| 12 | g.95980836C>A | CA386086534 | HAL | c.1315G>T (p.Val439Phe) c.691G>T (p.Val231Phe) c.*744G>T (n.*744G>T) c.463G>T (p.Val155Phe) c.385G>T (p.Val129Phe) | dbSNP |
| 12 | g.95980836C>T | CA6727622 | HAL | c.1315G>A (p.Val439Ile) c.691G>A (p.Val231Ile) c.*744G>A (n.*744G>A) c.463G>A (p.Val155Ile) c.385G>A (p.Val129Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |