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SK_channel
Ion_trans_2
CaMBD
Missense: 2 (100%)
2 Mutations
50
100
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650
0.0
0.5
1.0
1.5
2.0
2.5
3.0
3.5
4.0
# of mutations in KCNN3
KCNN3 sequence
Mutations and CNAs (4)
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KCNN3
Mutation
Missense
ENST00000271915.4
g.154842202T>G
c.239A>C
p.Gln80Pro
benign
Li7
KCNN3
Mutation
Missense
ENST00000271915.4
g.154842210C>A
c.231G>T
p.Gln77His
benign
JHH2
KCNN3
CNA
Focal_Amplification
SNU368
KCNN3
CNA
Focal_Amplification
MHCC97H
Codebase Soc. Coop.
info@codebase.it
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g.154842202T>G
c.239A>C
p.Gln80Pro
benign
g.154842210C>A
c.231G>T
p.Gln77His
benign