Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
PPARGC1A ENSG00000109819 ENST00000264867 p.N767K c.2301C>A Missense_Mutation -
FNDC7 ENSG00000143107 ENST00000370017 p.P300L c.899C>T Missense_Mutation -
VPS13A ENSG00000197969 ENST00000360280 p.K1467I c.4400A>T Missense_Mutation -
ZFHX4 ENSG00000091656 ENST00000521891 p.N1590del c.4768_4770delAAC In_Frame_Del -
AMOTL2 ENSG00000114019 ENST00000514516 p.K437E c.1309A>G Missense_Mutation -
CHD1L ENSG00000131778 ENST00000369258 p.H571Y c.1711C>T Missense_Mutation -
-- ENST00000447511 p.C500C c.1500C>T Silent -
SBSPON ENSG00000164764 ENST00000297354 p.F76F c.228C>T Silent -
BTN2A1 ENSG00000112763 ENST00000312541 p.E91D c.273G>C Missense_Mutation -
SLC22A3 ENSG00000146477 ENST00000275300 p.T251A c.751A>G Missense_Mutation -