| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.72888364C>T | CA122790 | SPR | c.355C>T (p.Gln119Ter) n.356-56C>T | ClinVar dbSNP |
| 2 | g.72888364C= | CA1260703842 | SPR | c.355C= (p.Gln119=) n.356-56C= | dbSNP |
| 2 | g.72888364C>G | CA347231438 | SPR | c.355C>G (p.Gln119Glu) n.356-56C>G | dbSNP gnomAD v4 |