Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PCSK7 | ENSG00000160613 | ENST00000320934 | p.V247L | c.739G>T | Missense_Mutation | - |
| SLC22A8 | ENSG00000149452 | ENST00000306494 | p.G187D | c.560G>A | Missense_Mutation | - |
| GPR20 | ENSG00000204882 | ENST00000377741 | p.VTGSRP188fs | c.562_578delGTGACAGGCAGCCGGCC | Frame_Shift_Del | - |
| -- | ENSG00000182500 | ENST00000330079 | p.S34R | c.100A>C | Missense_Mutation | - |
| NKPD1 | ENSG00000179846 | ENST00000438936 | p.T77A | c.229A>G | Missense_Mutation | - |
| ATP1A4 | ENSG00000132681 | ENST00000368081 | p.V190L | c.568G>C | Missense_Mutation | - |
| TTC14 | ENSG00000163728 | ENST00000296015 | p.S480N | c.1439G>A | Missense_Mutation | - |
| -- | ENSG00000198518 | ENST00000360441 | p.V66V | c.198G>C | Silent | - |
| FBN1 | ENSG00000166147 | ENST00000316623 | p.G1316fs | c.3945_3946insA | Frame_Shift_Ins | - |
| TBC1D9 | ENSG00000109436 | ENST00000442267 | p.192_193insI | c.578_579insTAT | In_Frame_Ins | - |