Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_001080532.3
p.S1045*
c.3134C>A
NM_001080532.3
p.R393C
c.1177C>T
NM_001080532.3
p.T473I
c.1418C>T
NM_001080532.3
p.C893Y
c.2678G>A
NM_001080532.3
p.R968W
c.2902C>T
NM_001080532.3
p.I13L
c.37A>C
NM_001080532.3
p.N16K
c.48T>G
NM_001080532.3
p.N16K
c.48T>A
NM_001080532.3
p.A17insFs
c.50_51insA
NM_001080532.3
p.D39insFs
c.116_117insA
NM_001080532.3
p.Q49H
c.147A>T
NM_001080532.3
p.Q49H
c.147A>C