Patients ID | RIPPLY3 variants NP_061835.1 | TBX1C variants | TBX1C variants allele frequency | ||||
---|---|---|---|---|---|---|---|
NM_080647.1 | NP_542378.1 | SNP | CTD (n = 577) | Control (n = 361) | p value | ||
F029 | p.P30L | c.1189A>C | p.N397H | rs72646967 | 0.521 | 0.495 | 0.39 |
F166 | p.T52S | – | – | – | – | – | – |
A002 | p.D113N | c.1189A>C | p.N397H | rs72646967 | 0.521 | 0.495 | 0.39 |
PI011 | p.V179D | c.928G>A | p.G310C | rs41298838 | 0.0561 | 0.0556 | 0.95 |