| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123291354A>T | CA347742 | ADCY5 | c.1763T>A (p.Met588Lys) c.2051T>A (p.Met684Lys) n.1489T>A c.3161T>A (p.Met1054Lys) c.3086T>A (p.Met1029Lys) c.2036T>A (p.Met679Lys) c.2060T>A (p.Met687Lys) c.2111T>A (p.Met704Lys) c.1838T>A (p.Met613Lys) c.2162T>A (p.Met721Lys) c.2072T>A (p.Met691Lys) c.2063T>A (p.Met688Lys) | ClinVar dbSNP |
| 3 | g.123291354A= | CA1398330453 | ADCY5 | c.1763T= (p.Met588=) c.2051T= (p.Met684=) n.1489T= c.3161T= (p.Met1054=) c.3086T= (p.Met1029=) c.2036T= (p.Met679=) c.2060T= (p.Met687=) c.2111T= (p.Met704=) c.1838T= (p.Met613=) c.2162T= (p.Met721=) c.2072T= (p.Met691=) c.2063T= (p.Met688=) | dbSNP |
| 3 | g.123291354A>C | CA354223846 | ADCY5 | c.1763T>G (p.Met588Arg) c.2051T>G (p.Met684Arg) n.1489T>G c.3161T>G (p.Met1054Arg) c.3086T>G (p.Met1029Arg) c.2036T>G (p.Met679Arg) c.2060T>G (p.Met687Arg) c.2111T>G (p.Met704Arg) c.1838T>G (p.Met613Arg) c.2162T>G (p.Met721Arg) c.2072T>G (p.Met691Arg) c.2063T>G (p.Met688Arg) | ClinVar dbSNP |