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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
MED12L ENSG00000144893 ENST00000474524 p.D848A c.2543A>C Missense_Mutation -
SLC22A8 ENSG00000149452 ENST00000306494 p.I350I c.1050C>A Silent -
INTS7 ENSG00000143493 ENST00000366994 p.N702S c.2105A>G Missense_Mutation -
OR2T33 ENSG00000177212 ENST00000318021 p.R301L c.902G>T Missense_Mutation -
HRNR ENSG00000197915 ENST00000368801 p.S2824Y c.8471C>A Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.A1423D c.4268C>A Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.P3139P c.9417T>C Silent -
CPLANE1 ENSG00000197603 ENST00000508244 p.G265C c.793G>T Missense_Mutation -
TBL1X ENSG00000101849 ENST00000217964 p.V570V c.1710G>T Silent -
-- ENSG00000116386 ENST00000331565 p.L624L c.1872C>T Silent -