Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_080764.4
p.V57I
c.169G>A
NM_080764.4
p.P299L
c.896C>T
NM_080764.4
p.M1insFs
c.2dupT
NM_080764.4
p.Q18K
c.52C>A
NM_080764.4
p.T20fs
c.58_59fs
NM_080764.4
p.D41H
c.121G>C
NM_080764.4
p.V47F
c.139G>T
NM_080764.4
p.S90I
c.269G>T
NM_080764.4
p.V101I
c.301G>A
NM_080764.4
p.S109L
c.326C>T
NM_080764.4
p.E119Q
c.355G>C
NM_080764.4
p.P120R
c.359C>G