| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.95062722C>T | CA7018942 | ABCC4 | c.*973G>A (n.*973G>A) c.*3394G>A (n.*3394G>A) c.3348G>A (p.Lys1116=) c.3207G>A (p.Lys1069=) c.3219G>A (p.Lys1073=) c.3258G>A (p.Lys1086=) c.2799G>A (p.Lys933=) c.1833G>A (p.Lys611=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.95062722C>G | CA388400416 | ABCC4 | c.*973G>C (n.*973G>C) c.*3394G>C (n.*3394G>C) c.3348G>C (p.Lys1116Asn) c.3207G>C (p.Lys1069Asn) c.3219G>C (p.Lys1073Asn) c.3258G>C (p.Lys1086Asn) c.2799G>C (p.Lys933Asn) c.1833G>C (p.Lys611Asn) | dbSNP gnomAD v4 |