Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| KCNK1 | ENSG00000135750 | ENST00000366621 | p.W210* | c.630G>A | Nonsense_Mutation | - |
| C1orf189 | ENSG00000163263 | ENST00000368525 | p.L49L | c.145C>T | Silent | - |
| DYSF | ENSG00000135636 | ENST00000410020 | p.P669S | c.2005C>T | Missense_Mutation | - |
| DYSF | ENSG00000135636 | ENST00000410020 | p.P1838S | c.5512C>T | Missense_Mutation | - |
| DYSF | ENSG00000135636 | ENST00000410020 | p.P1838L | c.5513C>T | Missense_Mutation | - |
| WDR35 | ENSG00000118965 | ENST00000281405 | p.P247S | c.739C>T | Missense_Mutation | - |
| ITGA4 | ENSG00000115232 | ENST00000397033 | p.T765A | c.2293A>G | Missense_Mutation | - |
| TP53 | ENSG00000141510 | ENST00000269305 | p.A347A | c.1041C>T | Silent | - |
| TP53 | ENSG00000141510 | ENST00000269305 | p.A347V | c.1040C>T | Missense_Mutation | - |
| CELSR1 | ENSG00000075275 | ENST00000262738 | p.P2099S | c.6295C>T | Missense_Mutation | - |