Mutations
Gene name | Gene | Transcript | AA syntax | CDS syntax | Mutation type | Pubmed ID |
---|---|---|---|---|---|---|
EPHB3 | ENSG00000182580 | ENST00000330394 | p.E495K | c.1483G>A | Missense_Mutation | - |
CXXC1 | ENSG00000154832 | ENST00000285106 | p.E271K | c.811G>A | Missense_Mutation | - |
MIER3 | ENSG00000155545 | ENST00000381199 | p.T367M | c.1100C>T | Missense_Mutation | - |
BTN2A2 | ENSG00000124508 | ENST00000356709 | p.L486L | c.1458A>G | Silent | - |
ANAPC4 | ENSG00000053900 | ENST00000315368 | p.R419W | c.1255C>T | Missense_Mutation | - |
RARB | ENSG00000077092 | ENST00000404969 | p.I33I | c.99C>T | Silent | - |
KRTAP1-1 | ENSG00000188581 | ENST00000306271 | p.P131P | c.393C>A | Silent | - |
-- | ENSG00000167411 | ENST00000300870 | p.S142F | c.425C>T | Missense_Mutation | - |
CACNA1B | ENSG00000148408 | ENST00000371372 | p.G31G | c.93C>G | Silent | - |
-- | ENST00000447511 | p.G437G | c.1311C>A | Silent | - |