Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
ZNF668 ENSG00000167394 ENST00000538906 p.C241C c.723C>T Silent -
ZXDB ENSG00000198455 ENST00000374888 p.S82N c.245G>A Missense_Mutation -
TBL1X ENSG00000101849 ENST00000217964 p.E35* c.103G>T Splice_Site -
TBL1X ENSG00000101849 ENST00000217964 p.R127H c.380G>A Missense_Mutation -
NKTR ENSG00000114857 ENST00000232978 p.G962W c.2884G>T Missense_Mutation -
STK11IP ENSG00000144589 ENST00000456909 p.P969P c.2907G>A Silent -
SORBS1 ENSG00000095637 ENST00000361941 p.R256R c.768C>T Silent -
PNISR ENSG00000132424 ENST00000369239 p.R715* c.2143C>T Nonsense_Mutation -
CACNA1G ENSG00000006283 ENST00000359106 p.A681V c.2042C>T Missense_Mutation -
CACNA1G ENSG00000006283 ENST00000359106 p.R840C c.2518C>T Missense_Mutation -