Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| MED12L | ENSG00000144893 | ENST00000474524 | p.D848A | c.2543A>C | Missense_Mutation | - |
| SLC22A8 | ENSG00000149452 | ENST00000306494 | p.I350I | c.1050C>A | Silent | - |
| INTS7 | ENSG00000143493 | ENST00000366994 | p.N702S | c.2105A>G | Missense_Mutation | - |
| OR2T33 | ENSG00000177212 | ENST00000318021 | p.R301L | c.902G>T | Missense_Mutation | - |
| HRNR | ENSG00000197915 | ENST00000368801 | p.S2824Y | c.8471C>A | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.A1423D | c.4268C>A | Missense_Mutation | - |
| ZFHX4 | ENSG00000091656 | ENST00000521891 | p.P3139P | c.9417T>C | Silent | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.G265C | c.793G>T | Missense_Mutation | - |
| TBL1X | ENSG00000101849 | ENST00000217964 | p.V570V | c.1710G>T | Silent | - |
| -- | ENSG00000116386 | ENST00000331565 | p.L624L | c.1872C>T | Silent | - |