Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_001001998.3
p.D313N
c.937G>A
NM_001001998.3
p.E74K
c.220G>A
NM_001001998.3
p.K583R
c.1748A>G
NM_001001998.3
p.R702H
c.2105G>A
NM_001001998.3
p.K168R
c.503A>G
NM_001001998.3
p.D313A
c.938A>C
NM_001001998.3
p.E315Q
c.943G>C
NM_001001998.3
p.E315A
c.944A>C
NM_001001998.3
p.D371N
c.1111G>A
NM_001001998.3
p.P463P
c.1389G>C
NM_001001998.3
p.K583E
c.1747A>G
NM_001001998.3
p.R723R
c.2169C>T