Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_198490.3
p.A158T
c.472G>A
NM_198490.3
p.M1insFs
c.1_2ins5
NM_198490.3
p.M1ins1
c.2_3insATC
NM_198490.3
p.E13*
c.37G>T
NM_198490.3
p.D16E
c.48T>G
NM_198490.3
p.D16E
c.48T>A
NM_198490.3
p.S28N
c.83G>A
NM_198490.3
p.R79Q
c.236G>A
NM_198490.3
p.T84I
c.251C>T
NM_198490.3
p.Y87S
c.260A>C
NM_198490.3
p.R89H
c.266G>A
NM_198490.3
p.G130R
c.388G>A