Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| ABCG8 | ENSG00000143921 | ENST00000272286 | p.Y613H | c.1837T>C | Missense_Mutation | - |
| WRNIP1 | ENSG00000124535 | ENST00000380773 | p.R211P | c.632G>C | Missense_Mutation | - |
| SLC25A29 | ENSG00000197119 | ENST00000359232 | p.A174fs | c.521_522insGC | Frame_Shift_Ins | - |
| PTGIR | ENSG00000160013 | ENST00000291294 | p.A152T | c.454G>A | Missense_Mutation | - |
| MYH1 | ENSG00000109061 | ENST00000226207 | p.M7L | c.19A>C | Missense_Mutation | - |
| NR1H4 | ENSG00000012504 | ENST00000392986 | p.P92S | c.274C>T | Missense_Mutation | - |
| SCRIB | ENSG00000180900 | ENST00000356994 | p.E818K | c.2452G>A | Missense_Mutation | - |
| AMOTL2 | ENSG00000114019 | ENST00000514516 | p.S607S | c.1821A>G | Silent | - |
| IL5RA | ENSG00000091181 | ENST00000438560 | p.G282R | c.844G>A | Missense_Mutation | - |
| PRRX1 | ENSG00000116132 | ENST00000239461 | p.R129C | c.385C>T | Missense_Mutation | - |