Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_005772.5
p.C104W
c.312C>G
NM_005772.5
p.V129I
c.385G>A
NM_005772.5
p.L372F
c.1114C>T
NM_005772.5
p.Q124*
c.370C>T
NM_005772.5
p.P272S
c.814C>T
NM_005772.5
p.D354N
c.1060G>A
NM_005772.5
p.Y10F
c.29A>T
NM_005772.5
p.R17G
c.49C>G
NM_005772.5
p.G82A
c.245G>C
NM_005772.5
p.R93S
c.277C>A
NM_005772.5
p.L105F
c.315G>C
NM_005772.5
p.L105F
c.315G>T