Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SPIN3 ENSG00000204271 ENST00000374919 p.T122K c.365C>A Missense_Mutation -
LRRC18 ENSG00000165383 ENST00000374160 p.R218W c.652C>T Missense_Mutation -
SLC5A12 ENSG00000148942 ENST00000396005 p.R76C c.226C>T Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.E779E c.2337G>A Silent -
-- ENSG00000080297 ENST00000172853 p.R3373W c.10117C>T Missense_Mutation -
-- ENSG00000080297 ENST00000172853 p.H3065H c.9195T>C Silent -
SLC35G5 ENSG00000177710 ENST00000382435 p.Y119C c.356A>G Missense_Mutation -
BDP1 ENSG00000145734 ENST00000358731 p.C274Y c.821G>A Missense_Mutation -
MED13L ENSG00000123066 ENST00000281928 p.I61I c.183C>A Silent -
FES ENSG00000182511 ENST00000328850 p.D528N c.1582G>A Missense_Mutation -