Papers
RefSeq ID
Protein change
DNA change
1–12 of 133 variants
NM_001353214.3
p.R204*
c.610C>T
NM_001353214.3
p.V65Splc
c.194-1G>A
NM_001353214.3
p.Q483*
c.1447C>T
NM_001353214.3
p.E87K
c.259G>A
NM_001353214.3
p.R194*
c.580C>T
NM_001353214.3
p.V417_I418Splc
c.1252-1G>A
NM_001353214.3
p.N469Y
c.1405A>T
NM_001353214.3
p.C207Splc
c.621-2A>G
NM_001353214.3
p.L219*
c.656T>G
NM_001353214.3
p.L375_V376Splc
c.1125+1G>T
NM_001353214.3
p.T255delFs
c.763delT
NM_001353214.3
p.Y16*
c.48C>G