Papers
RefSeq ID
Protein change
DNA change
1–12 of 200 variants
NM_001563.4
p.L579P
c.1736T>C
NM_001563.4
p.L608_L609Splc
c.1824+1G>A
NM_001563.4
p.L626F
c.1876C>T
NM_001563.4
p.L238R
c.713T>G
NM_001563.4
p.Q269_M270Splc
c.807+1G>T
NM_001563.4
p.R58K
c.173G>A
NM_001563.4
p.K569R
c.1706A>G
NM_001563.4
p.R580C
c.1738C>T
NM_001563.4
p.L649F
c.1945C>T
NM_001563.4
p.W126*
c.377G>A
NM_001563.4
p.W126*
c.378G>A
NM_001563.4
p.D326Y
c.976G>T