Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GAK ENSG00000178950 ENST00000314167 p.L482P c.1445T>C Missense_Mutation -
GAK ENSG00000178950 ENST00000314167 p.P480P c.1440A>C Silent -
GALNT16 ENSG00000100626 ENST00000337827 p.A470T c.1408G>A Missense_Mutation -
PCDHB4 ENSG00000081818 ENST00000194152 p.P732L c.2195C>T Missense_Mutation -
VWF ENSG00000110799 ENST00000261405 p.P1418S c.4252C>T Missense_Mutation -
-- ENST00000404233 p.G611G c.1833G>A Silent -
SLC22A8 ENSG00000149452 ENST00000306494 p.D525Y c.1573G>T Missense_Mutation -
SLC22A8 ENSG00000149452 ENST00000306494 p.L524P c.1571T>C Missense_Mutation -
FBXL18 ENSG00000155034 ENST00000382368 p.L628F c.1882C>T Missense_Mutation -
CIT ENSG00000122966 ENST00000392521 p.G241* c.721G>T Nonsense_Mutation -