| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207609586A>G | CA1370373 | CR1 | c.6193A>G (p.Ile2065Val) c.4843A>G (p.Ile1615Val) c.1180-6989A>G c.6208A>G (p.Ile2070Val) c.4858A>G (p.Ile1620Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207609586A>T | CA344544457 | CR1 | c.6193A>T (p.Ile2065Phe) c.4843A>T (p.Ile1615Phe) c.1180-6989A>T c.6208A>T (p.Ile2070Phe) c.4858A>T (p.Ile1620Phe) | dbSNP gnomAD v4 |
| 1 | g.207609586A= | CA1140103349 | CR1 | c.6193A= (p.Ile2065=) c.4843A= (p.Ile1615=) c.1180-6989A= c.6208A= (p.Ile2070=) c.4858A= (p.Ile1620=) | dbSNP |