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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
HCLS1 ENSG00000180353 ENST00000314583 p.E373A c.1118A>C Missense_Mutation -
KCTD18 ENSG00000155729 ENST00000359878 p.A411P c.1231G>C Missense_Mutation -
MED12L ENSG00000144893 ENST00000474524 p.L2090P c.6269T>C Missense_Mutation -
WDR62 ENSG00000075702 ENST00000401500 p.A1293D c.3878C>A Missense_Mutation -
USP4 ENSG00000114316 ENST00000265560 p.L64P c.191T>C Missense_Mutation -
COL5A3 ENSG00000080573 ENST00000264828 p.D859H c.2575G>C Missense_Mutation -
NBEAL2 ENSG00000160796 ENST00000450053 p.R1759H c.5276G>A Missense_Mutation -
MYO18B ENSG00000133454 ENST00000407587 p.E892K c.2674G>A Missense_Mutation -
TG ENSG00000042832 ENST00000220616 p.I2317M c.6951C>G Missense_Mutation -
CCDC106 ENSG00000173581 ENST00000586790 p.S200L c.599C>T Missense_Mutation -