| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207580276A>G | CA1370009 | CR1 | c.4973A>G (p.His1658Arg) c.3623A>G (p.His1208Arg) c.1179+14353A>G c.*738A>G (n.*738A>G) c.4988A>G (p.His1663Arg) c.3638A>G (p.His1213Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207580276A= | CA1139926082 | CR1 | c.4973A= (p.His1658=) c.3623A= (p.His1208=) c.1179+14353A= c.*738A= (n.*738A=) c.4988A= (p.His1663=) c.3638A= (p.His1213=) | dbSNP |