Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_003275.4
p.D12N
c.34G>A
NM_003275.4
p.L135V
c.403C>G
NM_003275.4
p.Q144K
c.430C>A
NM_003275.4
p.L7L
c.19C>T
NM_003275.4
p.T59A
c.175A>G
NM_003275.4
p.G60A
c.179G>C
NM_003275.4
p.P61A
c.181C>G
NM_003275.4
p.E176K
c.526G>A
NM_003275.4
p.R189W
c.565C>T
NM_003275.4
p.E307delFs
c.920delA
NM_003275.4
p.R342G
c.1024A>G
NM_003275.4
p.R5Q
c.14G>A