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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
TP63 ENSG00000073282 ENST00000354600 p.S301F c.902C>T Missense_Mutation -
IGF1R ENSG00000140443 ENST00000558762 p.E772K c.2314G>A Missense_Mutation -
ATP13A5 ENSG00000187527 ENST00000342358 p.P447S c.1339C>T Missense_Mutation -
CSMD3 ENSG00000164796 ENST00000297405 p.N724S c.2171A>G Missense_Mutation -
CPNE5 ENSG00000124772 ENST00000244751 p.I234T c.701T>C Missense_Mutation -
PCDH15 ENSG00000150275 ENST00000373965 p.P297P c.891C>A Silent -
NSD2 ENSG00000109685 ENST00000382895 p.E1111K c.3331G>A Missense_Mutation -
TET1 ENSG00000138336 ENST00000373644 p.T1352S c.4055C>G Missense_Mutation -
MYO18B ENSG00000133454 ENST00000407587 p.G132S c.394G>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.G2028R c.6082G>A Missense_Mutation -