| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.92001306G>T | CA163163 | AKAP9 | c.1389G>T (p.Met463Ile) c.*1118G>T (n.*1118G>T) n.1611G>T c.1335G>T (p.Met445Ile) c.*1174G>T (n.*1174G>T) c.1131G>T (p.Met377Ile) c.1422G>T (p.Met474Ile) n.1609G>T c.1413G>T (p.Met471Ile) c.1425G>T (p.Met475Ile) c.1371G>T (p.Met457Ile) c.1017G>T (p.Met339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.92001306G= | CA1630834820 | AKAP9 | c.1389G= (p.Met463=) c.*1118G= (n.*1118G=) n.1611G= c.1335G= (p.Met445=) c.*1174G= (n.*1174G=) c.1131G= (p.Met377=) c.1422G= (p.Met474=) n.1609G= c.1413G= (p.Met471=) c.1425G= (p.Met475=) c.1371G= (p.Met457=) c.1017G= (p.Met339=) | dbSNP |