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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ALX4 ENSG00000052850 ENST00000329255 p.P114S c.340C>T Missense_Mutation -
EPB41L4A ENSG00000129595 ENST00000261486 p.T371N c.1112C>A Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.R3295W c.9883C>T Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.N2134H c.6400A>C Missense_Mutation -
BDP1 ENSG00000145734 ENST00000358731 p.P39A c.115C>G Missense_Mutation -
SCAF4 ENSG00000156304 ENST00000286835 p.V512V c.1536G>T Silent -
WDR87 ENSG00000171804 ENST00000303868 p.L2807Q c.8420T>A Missense_Mutation -
ERMN ENSG00000136541 ENST00000410096 p.F8I c.22T>A Missense_Mutation -
PROZ ENSG00000126231 ENST00000342783 p.S367S c.1101C>T Silent -
ITIH1 ENSG00000055957 ENST00000273283 p.K184N c.552G>C Missense_Mutation -