| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6719285T>C | CA403646023 | C3 | n.254A>G c.70A>G (p.Lys24Glu) c.193A>G (p.Lys65Glu) | ClinVar dbSNP gnomAD v2 |
| 19 | g.6719285T>G | CA9129883 | C3 | n.254A>C c.70A>C (p.Lys24Gln) c.193A>C (p.Lys65Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6719285T= | CA2320571186 | C3 | n.254A= c.70A= (p.Lys24=) c.193A= (p.Lys65=) | dbSNP |