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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FAM71F1 ENSG00000135248 ENST00000485070 p.G152G c.456G>A Silent -
MED12L ENSG00000144893 ENST00000474524 p.S1666S c.4998T>C Silent -
WTAP ENSG00000146457 ENST00000358372 p.R284L c.851G>T Missense_Mutation -
RIMS1 ENSG00000079841 ENST00000414192 p.P141T c.421C>A Missense_Mutation -
RIMS1 ENSG00000079841 ENST00000414192 p.P141Q c.422C>A Missense_Mutation -
-- ENSG00000187919 ENST00000334575 p.G103D c.308G>A Missense_Mutation -
MLXIP ENSG00000175727 ENST00000319080 p.S339R c.1017C>A Missense_Mutation -
MTNR1B ENSG00000134640 ENST00000257068 p.R248R c.742C>A Silent -
RB1 ENSG00000139687 ENST00000267163 p.I573fs c.1716_1717insA Frame_Shift_Ins -
MYO1H ENSG00000174527 ENST00000310903 p.D865H c.2593G>C Missense_Mutation -