Papers
RefSeq ID
Protein change
DNA change
1–12 of 667 variants
NM_000558.5
p.D75H
c.223G>C
NM_000558.5
p.R32Splc
c.96-1G>A
NM_000558.5
p.R32Splc
c.96-1G>T
NM_000558.5
p.K100_L101Splc
c.301-1G>A
NM_000558.5
p.E28D
c.84G>T
NM_000558.5
p.G60D
c.179G>A
NM_000558.5
p.R32Splc
c.95+1G>A
NM_000558.5
p.M33K
c.98T>A
NM_000558.5
p.D65H
c.193G>C
NM_000558.5
p.S132_V133insFs
c.396_397insT
NM_000558.5
p.T40_K41del1
c.119_121delCCA
NM_000558.5
p.P120S
c.358C>T