Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
NM_003390.4
p.E70D
c.210G>C
NM_003390.4
p.G210C
c.628G>T
NM_003390.4
p.E43_G44del1
c.128_130delAGG
NM_003390.4
p.E90G
c.269A>G
NM_003390.4
p.N455H
c.1363A>C
NM_003390.4
p.L4L
c.12G>C
NM_003390.4
p.P128_A130del3
c.382_389del9
NM_003390.4
p.D148N
c.442G>A
NM_003390.4
p.P11fs
c.31_32fs
NM_003390.4
p.Q23*
c.67C>T
NM_003390.4
p.E39E
c.117G>A
NM_003390.4
p.E43G
c.128A>G