Papers
RefSeq ID
Protein change
DNA change
1–12 of 258 variants
NM_002813.7
p.E197G
c.590A>G
NM_002813.7
p.Q14*
c.40C>T
NM_002813.7
p.I33R
c.98T>G
NM_002813.7
p.A151_G152Splc
c.454-1G>A
NM_002813.7
p.N166S
c.497A>G
NM_002813.7
p.V17A
c.50T>C
NM_002813.7
p.S143G
c.427A>G
NM_002813.7
p.D3H
c.7G>C
NM_002813.7
p.Q24*
c.70C>T
NM_002813.7
p.V57E
c.170T>A
NM_002813.7
p.C59S
c.175T>A
NM_002813.7
p.C81Splc
c.242-1G>C