Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
KCNK1 ENSG00000135750 ENST00000366621 p.W210* c.630G>A Nonsense_Mutation -
C1orf189 ENSG00000163263 ENST00000368525 p.L49L c.145C>T Silent -
DYSF ENSG00000135636 ENST00000410020 p.P669S c.2005C>T Missense_Mutation -
DYSF ENSG00000135636 ENST00000410020 p.P1838S c.5512C>T Missense_Mutation -
DYSF ENSG00000135636 ENST00000410020 p.P1838L c.5513C>T Missense_Mutation -
WDR35 ENSG00000118965 ENST00000281405 p.P247S c.739C>T Missense_Mutation -
ITGA4 ENSG00000115232 ENST00000397033 p.T765A c.2293A>G Missense_Mutation -
TP53 ENSG00000141510 ENST00000269305 p.A347A c.1041C>T Silent -
TP53 ENSG00000141510 ENST00000269305 p.A347V c.1040C>T Missense_Mutation -
CELSR1 ENSG00000075275 ENST00000262738 p.P2099S c.6295C>T Missense_Mutation -