Papers
RefSeq ID
Protein change
DNA change
1–12 of 205 variants
NM_000557.5
p.C400Y
c.1199G>A
NM_000557.5
p.L441P
c.1322T>C
NM_000557.5
p.R438L
c.1313G>T
NM_000557.5
p.R438C
c.1312C>T
NM_000557.5
p.A69insFs
c.206_207insG
NM_000557.5
p.M173V
c.517A>G
NM_000557.5
p.R378Q
c.1133G>A
NM_000557.5
p.R380Q
c.1139G>A
NM_000557.5
p.S204R
c.612C>A
NM_000557.5
p.R301*
c.901C>T
NM_000557.5
p.S475N
c.1424G>A
NM_000557.5
p.C498S
c.1493G>C