Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
PRSS36 | ENSG00000178226 | ENST00000268281 | p.A98T | c.292G>A | Missense_Mutation | - |
VPS13A | ENSG00000197969 | ENST00000360280 | p.S157I | c.470G>T | Missense_Mutation | - |
VPS13A | ENSG00000197969 | ENST00000360280 | p.V2544L | c.7630G>T | Missense_Mutation | - |
PCDHA3 | ENSG00000255408 | ENST00000522353 | p.A661T | c.1981G>A | Missense_Mutation | - |
NXPH3 | ENSG00000182575 | ENST00000328741 | p.S57F | c.170C>T | Missense_Mutation | - |
RINT1 | ENSG00000135249 | ENST00000257700 | p.V569M | c.1705G>A | Missense_Mutation | - |
ABI2 | ENSG00000138443 | ENST00000295851 | p.P302H | c.905C>A | Missense_Mutation | - |
SLC25A29 | ENSG00000197119 | ENST00000359232 | p.A2A | c.6G>A | Silent | - |
FAM170B | ENSG00000172538 | ENST00000311787 | p.A108fs | c.321_322delTG | Frame_Shift_Del | - |
LRRK2 | ENSG00000188906 | ENST00000298910 | p.C249Y | c.746G>A | Missense_Mutation | - |