Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SMC3 | ENSG00000108055 | ENST00000361804 | p.E187fs | c.559_560insA | Frame_Shift_Ins | - |
| CACNA1B | ENSG00000148408 | ENST00000371372 | p.AG948del | c.2840_2845delGCGCCG | In_Frame_Del | - |
| HRNR | ENSG00000197915 | ENST00000368801 | p.G261C | c.781G>T | Missense_Mutation | - |
| SCRIB | ENSG00000180900 | ENST00000356994 | p.A1277T | c.3829G>A | Missense_Mutation | - |
| ASCC3 | ENSG00000112249 | ENST00000369162 | p.S2045S | c.6135G>T | Silent | - |
| STK11IP | ENSG00000144589 | ENST00000456909 | p.R945L | c.2834G>T | Missense_Mutation | - |
| ERMN | ENSG00000136541 | ENST00000410096 | p.N195S | c.584A>G | Missense_Mutation | - |
| WDR33 | ENSG00000136709 | ENST00000322313 | p.Q83* | c.247C>T | Nonsense_Mutation | - |
| MED8 | ENSG00000159479 | ENST00000372457 | p.S148* | c.443C>A | Nonsense_Mutation | - |
| RINL | ENSG00000187994 | ENST00000591812 | p.A382A | c.1146C>T | Silent | - |