Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_001195.5
p.G345S
c.1033G>A
NM_001195.5
p.I271T
c.812T>C
NM_001195.5
p.D348N
c.1042G>A
NM_001195.5
p.E269K
c.805G>A
NM_001195.5
p.D348N
c.1042G>A
NM_001195.5
p.A500A
c.1500G>A
NM_001195.5
p.P583P
c.1749A>G
NM_001195.5
p.R275C
c.823C>T
NM_001195.5
p.E375delFs
c.1124delT
NM_001195.5
p.G602R
c.1804G>C
NM_001195.5
p.G602R
c.1804G>A
NM_001195.5
p.R11C
c.31C>T