| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150556974T>G | CA251755 | ADAMTSL4,ADAMTSL4-AS2 | c.1785T>G (p.Tyr595Ter) c.1854T>G (p.Tyr618Ter) c.399T>G (p.Tyr133Ter) c.1953T>G (p.Tyr651Ter) c.1884T>G (p.Tyr628Ter) c.462T>G (p.Tyr154Ter) n.2138T>G n.139+719A>C c.198T>G (p.Tyr66Ter) n.1938T>G n.2111T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150556974T>A | CA342313303 | ADAMTSL4,ADAMTSL4-AS2 | c.1785T>A (p.Tyr595Ter) c.1854T>A (p.Tyr618Ter) c.399T>A (p.Tyr133Ter) c.1953T>A (p.Tyr651Ter) c.1884T>A (p.Tyr628Ter) c.462T>A (p.Tyr154Ter) n.2138T>A n.139+719A>T c.198T>A (p.Tyr66Ter) n.1938T>A n.2111T>A | dbSNP gnomAD v2 gnomAD v4 |