Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.L482P c.1445T>C Missense_Mutation -
COG2 ENSG00000135775 ENST00000366669 p.H183N c.547C>A Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.S1433N c.4298G>A Missense_Mutation -
IPO11 ENSG00000086200 ENST00000325324 p.Q472R c.1415A>G Missense_Mutation -
ACTBL2 ENSG00000169067 ENST00000423391 p.L222L c.666G>A Silent -
ATP2C2 ENSG00000064270 ENST00000262429 p.T694A c.2080A>G Missense_Mutation -
ARHGAP44 ENSG00000006740 ENST00000379672 p.E184K c.550G>A Missense_Mutation -
ARHGAP44 ENSG00000006740 ENST00000379672 p.F270F c.810C>T Silent -
IDO2 ENSG00000188676 ENST00000389060 p.P159S c.475C>T Missense_Mutation -
SORBS1 ENSG00000095637 ENST00000361941 p.S958N c.2873G>A Missense_Mutation -