Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001077525.3
p.Y462C
c.1385A>G
NM_001077525.3
p.R336Q
c.1007G>A
NM_001077525.3
p.D173E
c.519T>A
NM_001077525.3
p.E100*
c.298G>T
NM_001077525.3
p.D173E
c.519T>G
NM_001077525.3
p.D241N
c.721G>A
NM_001077525.3
p.V368M
c.1102G>A
NM_001077525.3
p.E533K
c.1597G>A
NM_001077525.3
p.M1R
c.2T>G
NM_001077525.3
p.A2P
c.4G>C
NM_001077525.3
p.A2delFs
c.6delC
NM_001077525.3
p.A6del1
c.16_17delGCC