Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GATA5 ENSG00000130700 ENST00000252997 p.R202* c.604C>T Nonsense_Mutation -
SMC3 ENSG00000108055 ENST00000361804 p.N430S c.1289A>G Missense_Mutation -
MUCL3 ENSG00000168631 ENST00000462446 p.A439E c.1316C>A Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K418N c.1254A>C Missense_Mutation -
REV3L ENSG00000009413 ENST00000358835 p.K1176E c.3526A>G Missense_Mutation -
COL5A3 ENSG00000080573 ENST00000264828 p.A212V c.635C>T Missense_Mutation -
PTPN4 ENSG00000088179 ENST00000263708 p.N525K c.1575T>A Missense_Mutation -
KCNA4 ENSG00000182255 ENST00000328224 p.S227S c.681C>T Silent -
NFIL3 ENSG00000165030 ENST00000297689 p.V425D c.1274T>A Missense_Mutation -
ACY3 ENSG00000132744 ENST00000255082 p.A310T c.928G>A Missense_Mutation -