Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
GALNT16 ENSG00000100626 ENST00000337827 p.S491C c.1472C>G Missense_Mutation -
COL22A1 ENSG00000169436 ENST00000303045 p.A1077A c.3231C>T Silent -
RP1 ENSG00000104237 ENST00000220676 p.K722E c.2164A>G Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.N202Y c.604A>T Missense_Mutation -
MT-ND4 ENSG00000198886 ENST00000361381 p.A131A c.393T>C Silent -
STK11IP ENSG00000144589 ENST00000456909 p.V1052M c.3154G>A Missense_Mutation -
ZNF226 ENSG00000167380 ENST00000590089 p.F428L c.1284C>G Missense_Mutation -
GHITM ENSG00000165678 ENST00000372134 p.V333I c.997G>A Missense_Mutation -
IRF6 ENSG00000117595 ENST00000367021 p.L436fs c.1306_1307delCT Frame_Shift_Del -
IRF6 ENSG00000117595 ENST00000367021 p.Q435fs c.1303_1304delCA Frame_Shift_Del -