Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
SMC3 ENSG00000108055 ENST00000361804 p.E187fs c.559_560insA Frame_Shift_Ins -
CACNA1B ENSG00000148408 ENST00000371372 p.AG948del c.2840_2845delGCGCCG In_Frame_Del -
HRNR ENSG00000197915 ENST00000368801 p.G261C c.781G>T Missense_Mutation -
SCRIB ENSG00000180900 ENST00000356994 p.A1277T c.3829G>A Missense_Mutation -
ASCC3 ENSG00000112249 ENST00000369162 p.S2045S c.6135G>T Silent -
STK11IP ENSG00000144589 ENST00000456909 p.R945L c.2834G>T Missense_Mutation -
ERMN ENSG00000136541 ENST00000410096 p.N195S c.584A>G Missense_Mutation -
WDR33 ENSG00000136709 ENST00000322313 p.Q83* c.247C>T Nonsense_Mutation -
MED8 ENSG00000159479 ENST00000372457 p.S148* c.443C>A Nonsense_Mutation -
RINL ENSG00000187994 ENST00000591812 p.A382A c.1146C>T Silent -