Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_017826.3
p.E105G
c.314A>G
NM_017826.3
p.A339T
c.1015G>A
NM_017826.3
p.E79K
c.235G>A
NM_017826.3
p.L70F
c.210G>T
NM_017826.3
p.E165K
c.493G>A
NM_017826.3
p.C177Splc
c.530+6T>G
NM_017826.3
p.V260I
c.778G>A
NM_017826.3
p.T321P
c.961A>C
NM_017826.3
p.R402Q
c.1205G>A
NM_017826.3
p.G15V
c.44G>T
NM_017826.3
p.Q16_A17Splc
c.48+87G>A
NM_017826.3
p.K18R
c.53A>G