| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.126064909G>C | CA378686400 | ADAM12 | c.1506C>G (p.Asn502Lys) c.1515C>G (p.Asn505Lys) n.430C>G n.383C>G c.1047C>G (p.Asn349Lys) c.348C>G (p.Asn116Lys) c.177C>G (p.Asn59Lys) | dbSNP |
| 10 | g.126064909G>A | CA5740548 | ADAM12 | c.1506C>T (p.Asn502=) c.1515C>T (p.Asn505=) n.430C>T n.383C>T c.1047C>T (p.Asn349=) c.348C>T (p.Asn116=) c.177C>T (p.Asn59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.126064909G= | CA1943128530 | ADAM12 | c.1506C= (p.Asn502=) c.1515C= (p.Asn505=) n.430C= n.383C= c.1047C= (p.Asn349=) c.348C= (p.Asn116=) c.177C= (p.Asn59=) | dbSNP |