Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| ZNF707 | ENSG00000181135 | ENST00000532205 | p.D127Y | c.379G>T | Missense_Mutation | - |
| BTN2A2 | ENSG00000124508 | ENST00000356709 | p.R350S | c.1050G>T | Missense_Mutation | - |
| MYH1 | ENSG00000109061 | ENST00000226207 | p.K661N | c.1983G>T | Missense_Mutation | - |
| MYH1 | ENSG00000109061 | ENST00000226207 | p.K206N | c.618G>T | Missense_Mutation | - |
| MAGEB6 | ENSG00000176746 | ENST00000379034 | p.A203P | c.607G>C | Missense_Mutation | - |
| TCF19 | ENSG00000137310 | ENST00000376257 | p.A320S | c.958G>T | Missense_Mutation | - |
| CHGB | ENSG00000089199 | ENST00000378961 | p.N581S | c.1742A>G | Missense_Mutation | - |
| SUSD2 | ENSG00000099994 | ENST00000358321 | p.P427P | c.1281C>G | Silent | - |
| RIOK3 | ENSG00000101782 | ENST00000339486 | p.R315C | c.943C>T | Missense_Mutation | - |
| SLC45A3 | ENSG00000158715 | ENST00000367145 | p.A74A | c.222C>T | Silent | - |