Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_015884.4
p.R429H
c.1286G>A
NM_015884.4
p.N508S
c.1523A>G
NM_015884.4
p.G224Splc
c.671-9T>G
NM_015884.4
p.F464S
c.1391T>C
NM_015884.4
p.F475S
c.1424T>C
NM_015884.4
p.M87I
c.261G>A
NM_015884.4
p.N459S
c.1376A>G
NM_015884.4
p.H227L
c.680A>T
NM_015884.4
p.C334Y
c.1001G>A
NM_015884.4
p.L505F
c.1515G>C
NM_015884.4
p.L505F
c.1515G>T
NM_015884.4
p.N508T
c.1523A>C