Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPARGC1A ENSG00000109819 ENST00000264867 p.L211L c.633C>G Silent -
TBC1D22A ENSG00000054611 ENST00000337137 p.L185L c.555C>G Silent -
ENSG00000167957 ENST00000447419 p.G398E c.1193G>A Missense_Mutation -
VWF ENSG00000110799 ENST00000261405 p.G408G c.1224G>T Silent -
ZFHX4 ENSG00000091656 ENST00000521891 p.E2156K c.6466G>A Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.A1823S c.5467G>T Missense_Mutation -
ENSG00000080297 ENST00000172853 p.K1269N c.3807A>C Missense_Mutation -
ENSG00000080297 ENST00000172853 p.K1262N c.3786G>T Missense_Mutation -
BUB3 ENSG00000154473 ENST00000368865 p.Q215Q c.645G>A Silent -
TBC1D9 ENSG00000109436 ENST00000442267 p.P318L c.953C>T Missense_Mutation -