Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.A892V c.2675C>T Missense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.P713P c.2139G>A Silent -
MAGEB6 ENSG00000176746 ENST00000379034 p.P384L c.1151C>T Missense_Mutation -
RSL1D1 ENSG00000171490 ENST00000571133 p.E441E c.1323A>G Silent -
DYSF ENSG00000135636 ENST00000258104 p.D1237D c.3711C>T Silent -
ARHGAP44 ENSG00000006740 ENST00000379672 p.P641P c.1923T>G Silent -
TCTN1 ENSG00000204852 ENST00000551590 p.A205T c.613G>A Missense_Mutation -
ARID2 ENSG00000189079 ENST00000334344 p.E420* c.1258G>T Nonsense_Mutation -
ITGB1 ENSG00000150093 ENST00000396033 p.K346E c.1036A>G Missense_Mutation -
TMEM44 ENSG00000145014 ENST00000392432 p.N118I c.353A>T Missense_Mutation -