| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.135800639C>T | CA348592490 | LCT | c.4834G>A (p.Glu1612Lys) c.2960-2501G>A (n.2960-2501G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.135800639C>A | CA144318 | LCT | c.4834G>T (p.Glu1612Ter) c.2960-2501G>T (n.2960-2501G>T) | ClinVar dbSNP |
| 2 | g.135800639C= | CA1290827601 | LCT | c.4834G= (p.Glu1612=) c.2960-2501G= (n.2960-2501G=) | dbSNP |
| 2 | g.135800639C>G | CA348592485 | LCT | c.4834G>C (p.Glu1612Gln) c.2960-2501G>C (n.2960-2501G>C) | dbSNP gnomAD v4 |