Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_017503.5
p.G213S
c.637G>A
NM_017503.5
p.Q44delFs
c.131_132delAG
NM_017503.5
p.R145C
c.433C>T
NM_017503.5
p.R25H
c.74G>A
NM_017503.5
p.V56G
c.167T>G
NM_017503.5
p.I71M
c.213C>G
NM_017503.5
p.L85V
c.253C>G
NM_017503.5
p.T86S
c.256A>T
NM_017503.5
p.T86S
c.257C>G
NM_017503.5
p.R88G
c.262C>G
NM_017503.5
p.R104_Q107delFs
c.312_321del10
NM_017503.5
p.R104insFs
c.311_312insAT