About us Contact Terms of Use Data Sources Publications FAQ

Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
KCTD18 ENSG00000155729 ENST00000359878 p.F314L c.940T>C Missense_Mutation -
PPP2R1A ENSG00000105568 ENST00000322088 p.R183W c.547C>T Missense_Mutation -
DLC1 ENSG00000164741 ENST00000276297 p.H1105R c.3314A>G Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.V948I c.2842G>A Missense_Mutation -
APOL3 ENSG00000128284 ENST00000349314 p.Q97K c.289C>A Missense_Mutation -
CACNA1B ENSG00000148408 ENST00000371372 p.S1696F c.5087C>T Missense_Mutation -
SLC5A12 ENSG00000148942 ENST00000396005 p.T447T c.1341C>T Silent -
FXN ENSG00000165060 ENST00000377270 p.R54C c.160C>T Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.P2061del c.6142_6144delCCT In_Frame_Del -
AMOTL2 ENSG00000114019 ENST00000514516 p.P767S c.2299C>T Missense_Mutation -