Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
KCTD18 ENSG00000155729 ENST00000359878 p.S43N c.128G>A Missense_Mutation -
OR13A1 ENSG00000256574 ENST00000553795 p.L319F c.955C>T Missense_Mutation -
EXO1 ENSG00000174371 ENST00000366548 p.A671V c.2012C>T Missense_Mutation -
-- ENSG00000167957 ENST00000447419 p.S417S c.1251C>T Silent -
P2RY6 ENSG00000171631 ENST00000393590 p.V102F c.304G>T Missense_Mutation -
CHD1L ENSG00000131778 ENST00000369258 p.Y871* c.2613C>A Nonsense_Mutation -
C5orf34 ENSG00000172244 ENST00000306862 p.P29L c.86C>T Missense_Mutation -
ACSS3 ENSG00000111058 ENST00000548058 p.L294L c.882G>A Silent -
NLRP4 ENSG00000160505 ENST00000301295 p.E727E c.2181G>A Silent -
ZNF750 ENSG00000141579 ENST00000269394 p.G606A c.1817G>C Missense_Mutation -