Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_015990.5
p.Q36K
c.106C>A
NM_015990.5
p.E165D
c.495A>C
NM_015990.5
p.K6delFs
c.17delA
NM_015990.5
p.D9_V10insFs
c.27_28insC
NM_015990.5
p.S27_P28insC
c.79_83ins3
NM_015990.5
p.S30S
c.90T>G
NM_015990.5
p.R51K
c.152G>A
NM_015990.5
p.V111delFs
c.332delT
NM_015990.5
p.E158K
c.472G>A
NM_015990.5
p.I185V
c.553A>G
NM_015990.5
p.E213_I215del0
c.639_644del6
NM_001171654.1
p.G94V
c.281G>T