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EST1_DNA_bind
EST1
Missense: 2 (100%)
2 Mutations
0
100
200
300
400
500
600
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800
900
1,000
0.0
0.5
1.0
1.5
2.0
2.5
3.0
# of mutations in SMG7
SMG7 sequence
Mutations and CNAs (2)
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SMG7
Mutation
Missense
ENST00000507469.1
g.183516381C>G
c.2748C>G
p.Ser916Arg
damaging
B1
SMG7
Mutation
Missense
ENST00000347615.2
g.183498585A>G
c.760A>G
p.Ile254Val
benign
Li7
Codebase Soc. Coop.
info@codebase.it
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g.183516381C>G
c.2748C>G
p.Ser916Arg
damaging
g.183498585A>G
c.760A>G
p.Ile254Val
benign