Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| DMC1 | ENSG00000100206 | ENST00000216024 | p.Y194C | c.581A>G | Missense_Mutation | - |
| COQ2 | ENSG00000173085 | ENST00000311469 | p.N180S | c.539A>G | Missense_Mutation | - |
| CPNE9 | ENSG00000144550 | ENST00000383832 | p.G104R | c.310G>C | Missense_Mutation | - |
| COL17A1 | ENSG00000065618 | ENST00000353479 | Splice_Site | - | ||
| SLC1A5 | ENSG00000105281 | ENST00000542575 | p.G478G | c.1434G>A | Silent | - |
| MMP2 | ENSG00000087245 | ENST00000570308 | p.G266R | c.796G>A | Missense_Mutation | - |
| MMP2 | ENSG00000087245 | ENST00000570308 | p.G266E | c.797G>A | Missense_Mutation | - |
| SEMA4F | ENSG00000135622 | ENST00000357877 | p.A26P | c.76G>C | Missense_Mutation | - |
| RIMS1 | ENSG00000079841 | ENST00000521978 | p.R887Q | c.2660G>A | Missense_Mutation | - |
| CLEC4A | ENSG00000111729 | ENST00000229332 | p.H140H | c.420C>T | Silent | - |