Table 3.
Somatic mutations in young adults with APA and APN
| Somatic mutation | APA | APN | ||
|---|---|---|---|---|
| Women(n = 33) | Men (n = 12) | Women (n = 13) | Men (n = 5) | |
| KCNJ5 | ||||
| p.T149delinsMA | 0 | 1 | 0 | 0 |
| p.G151R | 8 | 4 | 2 | 0 |
| p.G151_Y152del | 1 | 0 | 0 | 0 |
| p.T158A | 0 | 1 | 0 | 0 |
| p.L168R | 18 | 2 | 2 | 0 |
| CACNA1D | ||||
| p.D201N | 0 | 0 | 1 | 0 |
| p.L272H | 0 | 0 | 1 | 0 |
| p.G403R (exon 8B) | 0 | 0 | 2 | 2 |
| p.F747L | 0 | 0 | 1 | 0 |
| p.R990H | 1 | 0 | 0 | 0 |
| p.V1151A | 0 | 0 | 0 | 1 |
| p.V1338M | 1 | 0 | 0 | 0 |
| ATP1A1 | ||||
| p.L104R | 0 | 0 | 2 | 1 |
| p.E960_A963del | 0 | 0 | 0 | 1 |
| ATP2B3 | ||||
| p.L425_V426del | 0 | 1 | 1 | 0 |
| p.V426_V427del | 0 | 1 | 0 | 0 |
| CTNNB1 | ||||
| p.I35_G38del | 1 | 0 | 0 | 0 |
| p.S37C | 0 | 0 | 1 | 0 |
| p.T41A | 1 | 0 | 0 | 0 |
| p.S45P | 1 | 1 | 0 | 0 |
| Mutation negative | 1 | 1 | 0 | 0 |