Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
KCTD18 ENSG00000155729 ENST00000359878 p.L107F c.321G>T Missense_Mutation -
ALX4 ENSG00000052850 ENST00000329255 p.P199S c.595C>T Missense_Mutation -
ADGRG6 ENSG00000112414 ENST00000367609 p.N143S c.428A>G Missense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.G626S c.1876G>A Missense_Mutation -
SDK1 ENSG00000146555 ENST00000389531 p.V608I c.1822G>A Missense_Mutation -
PPAN ENSG00000130810 ENST00000428358 p.R223H c.668G>A Missense_Mutation -
LRRC18 ENSG00000165383 ENST00000374160 p.N177N c.531C>T Silent -
XRN1 ENSG00000114127 ENST00000392981 p.I317V c.949A>G Missense_Mutation -
NPIPB3 ENSG00000169246 ENST00000448012 p.R216R c.646A>C Silent -
BDP1 ENSG00000145734 ENST00000358731 p.K1003N c.3009G>T Missense_Mutation -