| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207621975A>T | CA344539620 | CR1 | c.7255A>T (p.Thr2419Ser) c.5905A>T (p.Thr1969Ser) c.1773A>T c.7270A>T (p.Thr2424Ser) c.5920A>T (p.Thr1974Ser) | dbSNP gnomAD v4 |
| 1 | g.207621975A>G | CA1370707 | CR1 | c.7255A>G (p.Thr2419Ala) c.5905A>G (p.Thr1969Ala) c.1773A>G c.7270A>G (p.Thr2424Ala) c.5920A>G (p.Thr1974Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207621975A= | CA1139928092 | CR1 | c.7255A= (p.Thr2419=) c.5905A= (p.Thr1969=) c.1773A= c.7270A= (p.Thr2424=) c.5920A= (p.Thr1974=) | dbSNP |