Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KRT16 | ENSG00000186832 | ENST00000301653 | p.Q431E | c.1291C>G | Missense_Mutation | - |
| EXOC3L1 | ENSG00000179044 | ENST00000314586 | p.G262G | c.786G>A | Silent | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.R2497C | c.7489C>T | Missense_Mutation | - |
| -- | ENSG00000187919 | ENST00000334575 | p.E137Q | c.409G>C | Missense_Mutation | - |
| MAMDC4 | ENSG00000177943 | ENST00000317446 | p.P924S | c.2770C>T | Missense_Mutation | - |
| YY1AP1 | ENSG00000163374 | ENST00000295566 | p.N329N | c.987C>T | Silent | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.F689F | c.2067C>T | Silent | - |
| FOXJ3 | ENSG00000198815 | ENST00000372572 | p.Y83fs | c.248_249insGTTA | Frame_Shift_Ins | - |
| CHD1L | ENSG00000131778 | ENST00000369258 | p.K645K | c.1935G>A | Silent | - |
| CPLANE1 | ENSG00000197603 | ENST00000508244 | p.Q2996E | c.8986C>G | Missense_Mutation | - |