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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
CXXC1 ENSG00000154832 ENST00000412036 p.S657I c.1970G>T Missense_Mutation -
HCN1 ENSG00000164588 ENST00000303230 p.R255S c.763C>A Missense_Mutation -
PDCD6IP ENSG00000170248 ENST00000307296 p.G428* c.1282G>T Nonsense_Mutation -
MIEF1 ENSG00000100335 ENST00000402881 p.S357L c.1070C>T Missense_Mutation -
COL5A3 ENSG00000080573 ENST00000264828 p.T1684K c.5051C>A Missense_Mutation -
BDKRB2 ENSG00000168398 ENST00000306005 p.P360L c.1079C>T Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.I1555N c.4664T>A Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.S3572S c.10716T>C Silent -
MPG ENSG00000103152 ENST00000219431 p.E269* c.805G>T Nonsense_Mutation -
TP53BP2 ENSG00000143514 ENST00000343537 p.I1101I c.3303C>T Silent -