Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_080675.4
p.K127delFs
c.381delT
NM_080675.4
p.T275M
c.824C>T
NM_080675.4
p.N348I
c.1043A>T
NM_080675.4
p.V128fs
c.382_383fs
NM_080675.4
p.R142Splc
c.425+1G>A
NM_080675.4
p.W72*
c.216G>A
NM_080675.4
p.V261M
c.781G>A
NM_080675.4
p.W72*
c.215G>A
NM_080675.4
p.G114R
c.340G>C
NM_080675.4
p.G114R
c.340G>A
NM_080675.4
p.M162K
c.485T>A
NM_080675.4
p.S284*
c.851C>G