Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_031949.5
p.E134K
c.400G>A
NM_031949.5
p.G445S
c.1333G>A
NM_031949.5
p.P450S
c.1348C>T
NM_031949.5
p.M1T
c.2T>C
NM_031949.5
p.R2_G3insFs
c.6_7insCA
NM_031949.5
p.R4Q
c.11G>A
NM_031949.5
p.D5N
c.13G>A
NM_031949.5
p.L6_C7insCA
c.16_20ins6
NM_031949.5
p.G16Splc
c.48-168T>A
NM_031949.5
p.G16Splc
c.48-167G>C
NM_031949.5
p.T21insFs
c.61dupA
NM_031949.5
p.T26T
c.78C>A