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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.H1000H c.3000C>T Silent -
MRPS27 ENSG00000113048 ENST00000261413 p.V6V c.18G>A Silent -
FAM189B ENSG00000160767 ENST00000368368 p.T438P c.1312A>C Missense_Mutation -
OLIG1 ENSG00000184221 ENST00000382348 p.48_49insS c.124_125insCCT In_Frame_Ins -
PBX4 ENSG00000105717 ENST00000251203 p.R150C c.448C>T Missense_Mutation -
ENSG00000167957 ENST00000447419 p.R380H c.1139G>A Missense_Mutation -
P2RY6 ENSG00000171631 ENST00000393590 p.A39A c.117T>G Silent -
FOCAD ENSG00000188352 ENST00000380249 p.H602R c.1805A>G Missense_Mutation -
CAPN15 ENSG00000103326 ENST00000219611 p.M1L c.1A>C Start_Codon_SNP -
DKKL1 ENSG00000104901 ENST00000221498 p.R205H c.614G>A Missense_Mutation -