Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPARGC1A ENSG00000109819 ENST00000264867 p.R647K c.1940G>A Missense_Mutation -
FLNB ENSG00000136068 ENST00000490882 p.G817R c.2449G>A Missense_Mutation -
FAM118A ENSG00000100376 ENST00000405673 p.V59I c.175G>A Missense_Mutation -
NSD1 ENSG00000165671 ENST00000439151 p.F1105L c.3315T>G Missense_Mutation -
LRP2 ENSG00000081479 ENST00000263816 p.H1958Y c.5872C>T Missense_Mutation -
WNK2 ENSG00000165238 ENST00000297954 p.L785Q c.2354T>A Missense_Mutation -
MYO18B ENSG00000133454 ENST00000407587 p.Q1882E c.5644C>G Missense_Mutation -
CUBN ENSG00000107611 ENST00000377833 p.G2556D c.7667G>A Missense_Mutation -
PKHD1 ENSG00000170927 ENST00000371117 p.K2415R c.7244A>G Missense_Mutation -
PKHD1 ENSG00000170927 ENST00000371117 p.R669H c.2006G>A Missense_Mutation -