Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FBXO48 ENSG00000204923 ENST00000377957 p.S97fs c.288_289delAA Frame_Shift_Del -
HTR2B ENSG00000135914 ENST00000258400 p.S425A c.1273T>G Missense_Mutation -
NRP1 ENSG00000099250 ENST00000265371 p.R535S c.1603C>A Missense_Mutation -
TAS2R5 ENSG00000127366 ENST00000247883 p.E163K c.487G>A Missense_Mutation -
CHST2 ENSG00000175040 ENST00000309575 p.G393C c.1177G>T Missense_Mutation -
PLEKHA5 ENSG00000052126 ENST00000299275 p.T985fs c.2953_2954insC Frame_Shift_Ins -
MT-ND4 ENSG00000198886 ENST00000361381 p.C52C c.156T>C Silent -
MT-ND4 ENSG00000198886 ENST00000361381 p.G156S c.466G>A Missense_Mutation -
XKR6 ENSG00000171044 ENST00000416569 p.P466L c.1397C>T Missense_Mutation -
SLC16A3 ENSG00000141526 ENST00000581287 p.H382H c.1146C>T Silent -