Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SLC6A15 ENSG00000072041 ENST00000552192 p.D418V c.1253A>T Missense_Mutation -
P2RY6 ENSG00000171631 ENST00000393590 p.P42S c.124C>T Missense_Mutation -
DCDC1 ENSG00000170959 ENST00000597505 p.G843E c.2528G>A Missense_Mutation -
KDM3B ENSG00000120733 ENST00000314358 p.V1170V c.3510A>G Silent -
IFNAR2 ENSG00000159110 ENST00000342136 p.E409D c.1227G>C Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.A941E c.2822C>A Missense_Mutation -
OR2L13 ENSG00000196071 ENST00000358120 p.L207L c.621T>C Silent -
F3 ENSG00000117525 ENST00000334047 p.99_100insKDV c.300_301insGATGTGAAG In_Frame_Ins -
SMIM10 ENSG00000184785 ENST00000330288 p.L79L c.235C>T Silent -
WDR33 ENSG00000136709 ENST00000322313 p.G992G c.2976T>G Silent -