Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_006160.4
p.E130Q
c.388G>C
NM_006160.4
p.M134T
c.401T>C
NM_006160.4
p.L163P
c.488T>C
NM_006160.4
p.P29delFs
c.85_86delGG
NM_006160.4
p.E85_E86del1
c.255_257delTCC
NM_006160.4
p.E85_E86del2
c.253_257del6
NM_006160.4
p.R129W
c.385C>T
NM_006160.4
p.E130K
c.388G>A
NM_006160.4
p.G255_L257del3
c.763_770del9
NM_006160.4
p.H268Q
c.804C>G
NM_006160.4
p.H268Q
c.804C>A
NM_006160.4
p.V15L
c.43G>C