| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.95044286C>G | CA484498282 | ABCC4 | n.479G>C c.*1520G>C (n.*1520G>C) c.*3655G>C (n.*3655G>C) c.3609G>C (p.Ala1203=) c.3468G>C (p.Ala1156=) n.493G>C n.44G>C c.3480G>C (p.Ala1160=) c.3519G>C (p.Ala1173=) c.3060G>C (p.Ala1020=) c.2094G>C (p.Ala698=) | dbSNP |
| 13 | g.95044286C>T | CA7018856 | ABCC4 | n.479G>A c.*1520G>A (n.*1520G>A) c.*3655G>A (n.*3655G>A) c.3609G>A (p.Ala1203=) c.3468G>A (p.Ala1156=) n.493G>A n.44G>A c.3480G>A (p.Ala1160=) c.3519G>A (p.Ala1173=) c.3060G>A (p.Ala1020=) c.2094G>A (p.Ala698=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |