Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SETBP1 ENSG00000152217 ENST00000282030 p.R727W c.2179C>T Missense_Mutation -
KRT16 ENSG00000186832 ENST00000301653 p.V34I c.100G>A Missense_Mutation -
PCDHB4 ENSG00000081818 ENST00000194152 p.R535H c.1604G>A Missense_Mutation -
PCDHB4 ENSG00000081818 ENST00000194152 p.T656M c.1967C>T Missense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.R403H c.1208G>A Missense_Mutation -
SLC25A29 ENSG00000197119 ENST00000359232 p.T42M c.125C>T Missense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.H1026R c.3077A>G Missense_Mutation -
KCNA4 ENSG00000182255 ENST00000328224 p.R87* c.259C>T Nonsense_Mutation -
WDR97 ENSG00000179698 ENST00000323662 p.L418F c.1254G>T Missense_Mutation -
TMEM114 ENSG00000232258 ENST00000568335 p.W81R c.241T>A Missense_Mutation -