Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_018343.3
p.S96C
c.287C>G
NM_018343.3
p.G349R
c.1045G>C
NM_018343.3
p.G349R
c.1045G>A
NM_018343.3
p.V175I
c.523G>A
NM_018343.3
p.H144Y
c.430C>T
NM_018343.3
p.R155H
c.464G>A
NM_018343.3
p.Y11H
c.31T>C
NM_018343.3
p.R14R
c.42A>T
NM_018343.3
p.A22_V23Splc
c.66+1571C>T
NM_018343.3
p.A22_V23Splc
c.66+1572C>G
NM_018343.3
p.V33G
c.98T>G
NM_018343.3
p.A42T
c.124G>A