| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122257249C>T | CA435404086 | CASR | c.354C>T (p.Asn118=) n.273C>T n.213C>T c.9+2875C>T (n.9+2875C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122257249C>A | CA119487 | CASR | c.354C>A (p.Asn118Lys) n.273C>A n.213C>A c.9+2875C>A (n.9+2875C>A) | ClinVar dbSNP |
| 3 | g.122257249C= | CA1397870875 | CASR | c.354C= (p.Asn118=) n.273C= n.213C= c.9+2875C= (n.9+2875C=) | dbSNP |
| 3 | g.122257249C>G | CA354362715 | CASR | c.354C>G (p.Asn118Lys) n.273C>G n.213C>G c.9+2875C>G (n.9+2875C>G) | ClinVar dbSNP |