Papers
RefSeq ID
Protein change
DNA change
1–12 of 170 variants
NM_025081.3
p.A978T
c.2932G>A
NM_025081.3
p.Q54*
c.160C>T
NM_025081.3
p.G57R
c.169G>A
NM_025081.3
p.G57R
c.169G>C
NM_025081.3
p.S458N
c.1373G>A
NM_025081.3
p.P663L
c.1988C>T
NM_025081.3
p.C814R
c.2440T>C
NM_025081.3
p.D1055N
c.3163G>A
NM_025081.3
p.Q1157K
c.3469C>A
NM_025081.3
p.T1238A
c.3712A>G
NM_025081.3
p.A1648A
c.4944A>T
NM_025081.3
p.T1657insFs
c.4969_4970dupAC