Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001080821.3
p.K353Q
c.1057A>C
NM_001080821.3
p.G454R
c.1360G>C
NM_001080821.3
p.G454R
c.1360G>A
NM_001080821.3
p.C42Y
c.125G>A
NM_001080821.3
p.G114S
c.340G>A
NM_001080821.3
p.T142M
c.425C>T
NM_001080821.3
p.R146C
c.436C>T
NM_001080821.3
p.S155L
c.464C>T
NM_001080821.3
p.C174R
c.520T>C
NM_001080821.3
p.R192H
c.575G>A
NM_001080821.3
p.Y240C
c.719A>G
NM_001080821.3
p.L252P
c.755T>C