Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| PPARGC1A | ENSG00000109819 | ENST00000264867 | p.R647K | c.1940G>A | Missense_Mutation | - |
| FLNB | ENSG00000136068 | ENST00000490882 | p.G817R | c.2449G>A | Missense_Mutation | - |
| FAM118A | ENSG00000100376 | ENST00000405673 | p.V59I | c.175G>A | Missense_Mutation | - |
| NSD1 | ENSG00000165671 | ENST00000439151 | p.F1105L | c.3315T>G | Missense_Mutation | - |
| LRP2 | ENSG00000081479 | ENST00000263816 | p.H1958Y | c.5872C>T | Missense_Mutation | - |
| WNK2 | ENSG00000165238 | ENST00000297954 | p.L785Q | c.2354T>A | Missense_Mutation | - |
| MYO18B | ENSG00000133454 | ENST00000407587 | p.Q1882E | c.5644C>G | Missense_Mutation | - |
| CUBN | ENSG00000107611 | ENST00000377833 | p.G2556D | c.7667G>A | Missense_Mutation | - |
| PKHD1 | ENSG00000170927 | ENST00000371117 | p.K2415R | c.7244A>G | Missense_Mutation | - |
| PKHD1 | ENSG00000170927 | ENST00000371117 | p.R669H | c.2006G>A | Missense_Mutation | - |