Papers
RefSeq ID
Protein change
DNA change
1–12 of 286 variants
NM_001130082.3
p.S454R
c.1360A>C
NM_001130082.3
p.S454R
c.1362C>G
NM_001130082.3
p.S454R
c.1362C>A
NM_001130082.3
p.V219M
c.655G>A
NM_001130082.3
p.P435S
c.1303C>T
NM_001130082.3
p.R546P
c.1637G>C
NM_001130082.3
p.L1815P
c.5444T>C
NM_001130082.3
p.C915R
c.2743T>C
NM_001130082.3
p.T1795A
c.5383A>G
NM_001130082.3
p.V1850G
c.5549T>G
NM_001130082.3
p.P1851A
c.5551C>G
NM_001130082.3
p.R123P
c.368G>C