Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_001128635.2
p.R1484K
c.4451G>A
NM_001128635.2
p.S1273G
c.3817A>G
NM_001128635.2
p.R133delFs
c.397_398delCG
NM_001128635.2
p.E195K
c.583G>A
NM_001128635.2
p.P211S
c.631C>T
NM_001128635.2
p.R259H
c.776G>A
NM_001128635.2
p.E397_N398del2
c.1189_1193del6
NM_001128635.2
p.E880delFs
c.2638delG
NM_001128635.2
p.E880fs
c.2638_2639fs
NM_001128635.2
p.L918F
c.2752C>T
NM_001128635.2
p.V1038M
c.3112G>A
NM_001128635.2
p.W1062R
c.3184T>A