Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
COQ2 ENSG00000173085 ENST00000311469 p.F383C c.1148T>G Missense_Mutation -
KRT16 ENSG00000186832 ENST00000301653 p.D163N c.487G>A Missense_Mutation -
PIGU ENSG00000101464 ENST00000374820 p.S224P c.670T>C Missense_Mutation -
COG2 ENSG00000135775 ENST00000366669 NA NA Splice_Site -
ENSG00000224457 ENST00000453700 p.P788S c.2362C>T Missense_Mutation -
HRNR ENSG00000197915 ENST00000368801 p.H774H c.2322C>T Silent -
SCRIB ENSG00000180900 ENST00000320476 p.V1367M c.4099G>A Missense_Mutation -
NEB ENSG00000183091 ENST00000604864 p.F3808S c.11423T>C Missense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.P2932L c.8795C>T Splice_Site -
STK11IP ENSG00000144589 ENST00000456909 p.G27G c.81C>T Silent -