Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_001080437.3
p.E1238Q
c.3712G>C
NM_001080437.3
p.A1362S
c.4084G>T
NM_001080437.3
p.G179D
c.536G>A
NM_001080437.3
p.L1228P
c.3683T>C
NM_001080437.3
p.T594M
c.1781C>T
NM_001080437.3
p.N1015S
c.3044A>G
NM_001080437.3
p.Q1242P
c.3725A>C
NM_001080437.3
p.M1K
c.2T>A
NM_001080437.3
p.A6del1
c.16_18delGCC
NM_001080437.3
p.G16_G18del3
c.46_53del9
NM_001080437.3
p.A27G
c.80C>G
NM_001080437.3
p.D30N
c.88G>A