Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_016308.3
p.G8R
c.22G>A
NM_016308.3
p.G8R
c.22G>C
NM_016308.3
p.N115S
c.344A>G
NM_016308.3
p.Q80H
c.240G>T
NM_016308.3
p.Q80H
c.240G>C
NM_016308.3
p.P96S
c.286C>T
NM_016308.3
p.K48N
c.144G>T
NM_016308.3
p.R128K
c.383G>A
NM_016308.3
p.D174Y
c.520G>T
NM_016308.3
p.M1I
c.3G>A
NM_016308.3
p.M1_L2insFs
c.3_4insT
NM_016308.3
p.C5Y
c.14G>A