Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001128202.3
p.R142H
c.425G>A
NM_001128202.3
p.Q40*
c.118C>T
NM_001128202.3
p.R5Q
c.14G>A
NM_001128202.3
p.R6H
c.17G>A
NM_001128202.3
p.P10H
c.29C>A
NM_001128202.3
p.W17_F18Splc
c.51+33C>G
NM_001128202.3
p.I21N
c.62T>A
NM_001128202.3
p.E38Q
c.112G>C
NM_001128202.3
p.R46W
c.136C>T
NM_001128202.3
p.E49*
c.145G>T
NM_001128202.3
p.K61K
c.183G>A
NM_001128202.3
p.N65S
c.194A>G