Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| FAM71F1 | ENSG00000135248 | ENST00000485070 | p.K7N | c.21G>C | Missense_Mutation | - |
| C22orf23 | ENSG00000128346 | ENST00000249079 | p.I87T | c.260T>C | Missense_Mutation | - |
| PITX1 | ENSG00000069011 | ENST00000265340 | p.R147S | c.439C>A | Missense_Mutation | - |
| CCDC112 | ENSG00000164221 | ENST00000506442 | p.E346K | c.1036G>A | Missense_Mutation | - |
| ZXDB | ENSG00000198455 | ENST00000374888 | p.G183R | c.547G>C | Missense_Mutation | - |
| TP73 | ENSG00000078900 | ENST00000378295 | p.GGGP603del | c.1807_1818delGGCGGCGGCCCT | In_Frame_Del | - |
| DYSF | ENSG00000135636 | ENST00000410020 | p.P1417T | c.4249C>A | Missense_Mutation | - |
| SMO | ENSG00000128602 | ENST00000249373 | p.L112L | c.336C>A | Silent | - |
| SMO | ENSG00000128602 | ENST00000249373 | p.R113G | c.337C>G | Missense_Mutation | - |
| DLGAP1 | ENSG00000170579 | ENST00000315677 | p.A659S | c.1975G>T | Missense_Mutation | - |