Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_001744.6
p.T200A
c.598A>G
NM_001744.6
p.K75E
c.223A>G
NM_001744.6
p.G228R
c.682G>C
NM_001744.6
p.S189A
c.565T>G
NM_001744.6
p.G228R
c.682G>A
NM_001744.6
p.K327_A328Splc
c.981+1G>A
NM_001744.6
p.D31N
c.91G>A
NM_001744.6
p.R129Splc
c.387-1G>A
NM_001744.6
p.D178N
c.532G>A
NM_001744.6
p.G203E
c.608G>A
NM_001744.6
p.R288W
c.862C>T
NM_001744.6
p.K303fs
c.907_908fs