Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_007247.6
p.M1insFs
c.2dupT
NM_007247.6
p.A7insFs
c.21dupT
NM_007247.6
p.A14G
c.41C>G
NM_007247.6
p.G18S
c.52G>A
NM_007247.6
p.Q47K
c.139C>A
NM_007247.6
p.P58P
c.174T>A
NM_007247.6
p.Q61*
c.181C>T
NM_007247.6
p.P109R
c.326C>G
NM_007247.6
p.D114A
c.341A>C
NM_007247.6
p.R138T
c.413G>C
NM_007247.6
p.R140K
c.419G>A
NM_007247.6
p.D182N
c.544G>A