Mutations
| Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
|---|---|---|---|---|---|---|
| METTL25 | ENSG00000127720 | ENST00000248306 | p.E527fs | c.1579_1580insA | Frame_Shift_Ins | - |
| IFIT5 | ENSG00000152778 | ENST00000371795 | p.A52V | c.155C>T | Missense_Mutation | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.K1481fs | c.4440_4441insA | Frame_Shift_Ins | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | NA | NA | Splice_Site | - |
| VPS13A | ENSG00000197969 | ENST00000360280 | p.V2880V | c.8640A>G | Silent | - |
| ABI2 | ENSG00000138443 | ENST00000422511 | p.P182H | c.545C>A | Missense_Mutation | - |
| FAM170B | ENSG00000172538 | ENST00000311787 | p.R211G | c.631A>G | Missense_Mutation | - |
| TOPAZ1 | ENSG00000173769 | ENST00000309765 | p.D949G | c.2846A>G | Missense_Mutation | - |
| THOC3 | ENSG00000051596 | ENST00000265097 | NA | NA | Splice_Site | - |
| NCOA3 | ENSG00000124151 | ENST00000371998 | p.A70T | c.208G>A | Missense_Mutation | - |