Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
NM_005894.3
p.E110*
c.328G>T
NM_005894.3
p.A172T
c.514G>A
NM_005894.3
p.P219S
c.655C>T
NM_005894.3
p.D51A
c.152A>C
NM_005894.3
p.P133Fs
c.397delinsGAAFs
NM_005894.3
p.H146R
c.437A>G
NM_005894.3
p.C191S
c.571T>A
NM_005894.3
p.C191S
c.572G>C
NM_005894.3
p.H194R
c.581A>G
NM_005894.3
p.R198Q
c.593G>A
NM_005894.3
p.C218F
c.653G>T
NM_005894.3
p.V259A
c.776T>C