Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_025268.4
p.V293_P294del1
c.879_881delGCC
NM_025268.4
p.K98delFs
c.293_294delAG
NM_025268.4
p.V293_P294del2
c.877_881del6
NM_025268.4
p.S311L
c.932C>T
NM_025268.4
p.M1insFs
c.2dupT
NM_025268.4
p.L3L
c.7C>T
NM_025268.4
p.L3Q
c.8T>A
NM_025268.4
p.P4P
c.12G>C
NM_025268.4
p.D7N
c.19G>A
NM_025268.4
p.Y28S
c.83A>C
NM_025268.4
p.G48S
c.142G>A
NM_025268.4
p.G48R
c.142G>C