Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
BEND7 ENSG00000165626 ENST00000341083 p.S184N c.551G>A Missense_Mutation -
MIB1 ENSG00000101752 ENST00000261537 p.S810G c.2428A>G Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.I7840T c.23519T>C Missense_Mutation -
MED13L ENSG00000123066 ENST00000281928 p.M1980T c.5939T>C Missense_Mutation -
ZNF226 ENSG00000167380 ENST00000590089 p.S376F c.1127C>T Missense_Mutation -
TRPS1 ENSG00000104447 ENST00000395715 p.S213Y c.638C>A Missense_Mutation -
FN1 ENSG00000115414 ENST00000354785 p.R938H c.2813G>A Missense_Mutation -
-- false Missense_Mutation -
NEXMIF ENSG00000050030 ENST00000055682 p.E1358D c.4074G>T Missense_Mutation -
PRKAR1A ENSG00000108946 ENST00000588188 p.S238S c.714C>T Silent -