Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
HCN1 ENSG00000164588 ENST00000303230 p.G70G c.210C>T Silent -
EXOC3L1 ENSG00000179044 ENST00000314586 p.A379V c.1136C>T Missense_Mutation -
SP140 ENSG00000079263 ENST00000392045 p.P178L c.533C>T Missense_Mutation -
MT-ND4 ENSG00000198886 ENST00000361381 p.L11L c.31T>C Silent -
ZNF845 ENSG00000213799 ENST00000595091 p.K934N c.2802G>C Missense_Mutation -
PROZ ENSG00000126231 ENST00000342783 p.R246R c.738G>A Silent -
SLC10A5 ENSG00000253598 ENST00000518568 p.E33E c.99A>G Silent -
PYGO2 ENSG00000163348 ENST00000368457 p.P155P c.465A>C Silent -
PYGO2 ENSG00000163348 ENST00000368457 p.Y154S c.461A>C Missense_Mutation -
MYH9 ENSG00000100345 ENST00000216181 p.L1766P c.5297T>C Missense_Mutation -