Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ZBTB32 ENSG00000011590 ENST00000392197 p.P322P c.966C>A Silent -
CACNA1B ENSG00000148408 ENST00000371372 p.AG29fs c.86_87insG Frame_Shift_Ins -
OR10Z1 ENSG00000198967 ENST00000361284 p.H56R c.167A>G Missense_Mutation -
MYH1 ENSG00000109061 ENST00000226207 NA NA Splice_Site -
-- ENSG00000080297 ENST00000172853 p.T4153T c.12459T>A Silent -
MT-ND4 ENSG00000198886 ENST00000361381 p.K206K c.618G>A Silent -
LRFN1 ENSG00000128011 ENST00000248668 p.A394A c.1182A>C Silent -
GHITM ENSG00000165678 ENST00000372134 p.L215del c.643_645delCTC In_Frame_Del -
ATP8B3 ENSG00000130270 ENST00000310127 p.I666T c.1997T>C Missense_Mutation -
SYNM ENSG00000182253 ENST00000336292 p.P1163P c.3489G>A Silent -