Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_012275.3
p.G39Splc
c.115+6T>C
NM_012275.3
p.S113L
c.338C>T
NM_012275.3
p.L27P
c.80T>C
NM_012275.3
p.R10*
c.28C>T
NM_012275.3
p.P76L
c.227C>T
NM_012275.3
p.R48W
c.142C>T
NM_012275.3
p.T123M
c.368C>T
NM_012275.3
p.N47S
c.140A>G
NM_012275.3
p.R102W
c.304C>T
NM_012275.3
p.T123R
c.368C>G
NM_012275.3
p.K35R
c.104A>G
NM_012275.3
p.H32R
c.95A>G