Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| SPIN3 | ENSG00000204271 | ENST00000374919 | p.T122K | c.365C>A | Missense_Mutation | - |
| LRRC18 | ENSG00000165383 | ENST00000374160 | p.R218W | c.652C>T | Missense_Mutation | - |
| SLC5A12 | ENSG00000148942 | ENST00000396005 | p.R76C | c.226C>T | Missense_Mutation | - |
| TG | ENSG00000042832 | ENST00000220616 | p.E779E | c.2337G>A | Silent | - |
| -- | ENSG00000080297 | ENST00000172853 | p.R3373W | c.10117C>T | Missense_Mutation | - |
| -- | ENSG00000080297 | ENST00000172853 | p.H3065H | c.9195T>C | Silent | - |
| SLC35G5 | ENSG00000177710 | ENST00000382435 | p.Y119C | c.356A>G | Missense_Mutation | - |
| BDP1 | ENSG00000145734 | ENST00000358731 | p.C274Y | c.821G>A | Missense_Mutation | - |
| MED13L | ENSG00000123066 | ENST00000281928 | p.I61I | c.183C>A | Silent | - |
| FES | ENSG00000182511 | ENST00000328850 | p.D528N | c.1582G>A | Missense_Mutation | - |