| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.135804812G>A | CA1887864 | LCT | c.4419C>T (p.Tyr1473=) c.2715C>T (p.Tyr905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.135804812G>C | CA144315 | LCT | c.4419C>G (p.Tyr1473Ter) c.2715C>G (p.Tyr905Ter) | ClinVar dbSNP |
| 2 | g.135804812G= | CA1290829335 | LCT | c.4419C= (p.Tyr1473=) c.2715C= (p.Tyr905=) | dbSNP |