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Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
BTN2A2 ENSG00000124508 ENST00000356709 p.R445W c.1333C>T Missense_Mutation -
MMP2 ENSG00000087245 ENST00000219070 p.L548L c.1644G>T Silent -
CPLANE1 ENSG00000197603 ENST00000508244 p.R3007* c.9019A>T Nonsense_Mutation -
CPLANE1 ENSG00000197603 ENST00000508244 p.I1878V c.5632A>G Missense_Mutation -
DYSF ENSG00000135636 ENST00000258104 p.S259I c.776G>T Missense_Mutation -
DYSF ENSG00000135636 ENST00000258104 p.V862V c.2586G>T Silent -
DYSF ENSG00000135636 ENST00000258104 p.G1863S c.5587G>A Missense_Mutation -
FES ENSG00000182511 ENST00000328850 p.R37L c.110G>T Missense_Mutation -
FN1 ENSG00000115414 ENST00000359671 p.D1646N c.4936G>A Missense_Mutation -
TP53 ENSG00000141510 ENST00000269305 p.C141W c.423C>G Missense_Mutation -