Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| COL8A1 | ENSG00000144810 | ENST00000261037 | p.G602R | c.1804G>A | Missense_Mutation | - |
| CADM1 | ENSG00000182985 | ENST00000452722 | p.V4E | c.11T>A | Missense_Mutation | - |
| PHC2 | ENSG00000134686 | ENST00000257118 | p.G523V | c.1568G>T | Missense_Mutation | - |
| LRRK2 | ENSG00000188906 | ENST00000298910 | p.Q2120* | c.6358C>T | Nonsense_Mutation | - |
| TSTD2 | ENSG00000136925 | ENST00000341170 | p.E167K | c.499G>A | Missense_Mutation | - |
| SAMD15 | ENSG00000100583 | ENST00000216471 | p.S172L | c.515C>T | Missense_Mutation | - |
| OPCML | ENSG00000183715 | ENST00000331898 | p.D191Y | c.571G>T | Missense_Mutation | - |
| PCDHB1 | ENSG00000171815 | ENST00000306549 | p.A311A | c.933C>T | Silent | - |
| TP53 | ENSG00000141510 | ENST00000269305 | p.R280T | c.839G>C | Missense_Mutation | - |
| ADAMTSL4 | ENSG00000143382 | ENST00000369038 | p.G61R | c.181G>A | Missense_Mutation | - |