Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| FBXO48 | ENSG00000204923 | ENST00000377957 | p.S97fs | c.288_289delAA | Frame_Shift_Del | - |
| HTR2B | ENSG00000135914 | ENST00000258400 | p.S425A | c.1273T>G | Missense_Mutation | - |
| NRP1 | ENSG00000099250 | ENST00000265371 | p.R535S | c.1603C>A | Missense_Mutation | - |
| TAS2R5 | ENSG00000127366 | ENST00000247883 | p.E163K | c.487G>A | Missense_Mutation | - |
| CHST2 | ENSG00000175040 | ENST00000309575 | p.G393C | c.1177G>T | Missense_Mutation | - |
| PLEKHA5 | ENSG00000052126 | ENST00000299275 | p.T985fs | c.2953_2954insC | Frame_Shift_Ins | - |
| MT-ND4 | ENSG00000198886 | ENST00000361381 | p.C52C | c.156T>C | Silent | - |
| MT-ND4 | ENSG00000198886 | ENST00000361381 | p.G156S | c.466G>A | Missense_Mutation | - |
| XKR6 | ENSG00000171044 | ENST00000416569 | p.P466L | c.1397C>T | Missense_Mutation | - |
| SLC16A3 | ENSG00000141526 | ENST00000581287 | p.H382H | c.1146C>T | Silent | - |