Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_007317.3
p.P148L
c.443C>T
NM_007317.3
p.R149Q
c.446G>A
NM_007317.3
p.R149L
c.446G>T
NM_007317.3
p.P148S
c.442C>T
NM_007317.3
p.D594N
c.1780G>A
NM_007317.3
p.P405R
c.1214C>G
NM_007317.3
p.R442H
c.1325G>A
NM_007317.3
p.T463A
c.1387A>G
NM_007317.3
p.V475G
c.1424T>G
NM_007317.3
p.A501insFs
c.1502_1503insG
NM_007317.3
p.E502*
c.1504G>T
NM_007317.3
p.M1insFs
c.2dupT