Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
MYLIP ENSG00000007944 ENST00000356840 p.T435T c.1305G>A Silent -
VWF ENSG00000110799 ENST00000261405 p.T1477T c.4431T>C Silent -
-- ENSG00000221830 ENST00000321826 p.L160V c.478C>G Missense_Mutation -
PNISR ENSG00000132424 ENST00000369239 p.S211S c.633A>G Silent -
FUT10 ENSG00000172728 ENST00000327671 p.A264V c.791C>T Missense_Mutation -
EIF4G3 ENSG00000075151 ENST00000264211 p.P169A c.505C>G Missense_Mutation -
NUDT12 ENSG00000112874 ENST00000230792 p.F153F c.459C>T Silent -
BAIAP2L2 ENSG00000128298 ENST00000381669 p.R523H c.1568G>A Missense_Mutation -
PPM1E ENSG00000175175 ENST00000308249 p.P47S c.139C>T Missense_Mutation -
HPN ENSG00000105707 ENST00000262626 p.L260V c.778C>G Missense_Mutation -