Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_005773.3
p.Q128delFs
c.382delG
NM_005773.3
p.Q128fs
c.382_383fs
NM_005773.3
p.S337G
c.1009A>G
NM_005773.3
p.K610N
c.1830A>T
NM_005773.3
p.K610N
c.1830A>C
NM_005773.3
p.D18N
c.52G>A
NM_005773.3
p.S24fs
c.70_71fs
NM_005773.3
p.S24_L31delFs
c.71_92del22
NM_005773.3
p.D41N
c.121G>A
NM_005773.3
p.S85T
c.253T>A
NM_005773.3
p.C92F
c.275G>T
NM_005773.3
p.V106V
c.318T>A