Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ZNF707 ENSG00000181135 ENST00000532205 p.D127Y c.379G>T Missense_Mutation -
BTN2A2 ENSG00000124508 ENST00000356709 p.R350S c.1050G>T Missense_Mutation -
MYH1 ENSG00000109061 ENST00000226207 p.K661N c.1983G>T Missense_Mutation -
MYH1 ENSG00000109061 ENST00000226207 p.K206N c.618G>T Missense_Mutation -
MAGEB6 ENSG00000176746 ENST00000379034 p.A203P c.607G>C Missense_Mutation -
TCF19 ENSG00000137310 ENST00000376257 p.A320S c.958G>T Missense_Mutation -
CHGB ENSG00000089199 ENST00000378961 p.N581S c.1742A>G Missense_Mutation -
SUSD2 ENSG00000099994 ENST00000358321 p.P427P c.1281C>G Silent -
RIOK3 ENSG00000101782 ENST00000339486 p.R315C c.943C>T Missense_Mutation -
SLC45A3 ENSG00000158715 ENST00000367145 p.A74A c.222C>T Silent -