Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
PRSS36 | ENSG00000178226 | ENST00000268281 | p.R536P | c.1607G>C | Missense_Mutation | - |
CACNA1B | ENSG00000148408 | ENST00000371372 | p.A624S | c.1870G>T | Missense_Mutation | - |
THOC3 | ENSG00000051596 | ENST00000514861 | p.V14A | c.41T>C | Missense_Mutation | - |
-- | ENSG00000116386 | ENST00000331565 | p.L80L | c.240C>T | Silent | - |
-- | ENSG00000116386 | ENST00000331565 | p.P595S | c.1783C>T | Missense_Mutation | - |
DLGAP1 | ENSG00000170579 | ENST00000315677 | p.A602T | c.1804G>A | Missense_Mutation | - |
MPDZ | ENSG00000107186 | ENST00000319217 | p.P355T | c.1063C>A | Missense_Mutation | - |
FN1 | ENSG00000115414 | ENST00000354785 | p.T1642T | c.4926C>T | Silent | - |
KIFC3 | ENSG00000140859 | ENST00000379655 | p.V455V | c.1365C>T | Silent | - |
NLRP4 | ENSG00000160505 | ENST00000301295 | p.V992I | c.2974G>A | Missense_Mutation | - |