Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_017817.3
p.Y25H
c.73T>C
NM_017817.3
p.L43P
c.128T>C
NM_017817.3
p.R47L
c.140G>T
NM_017817.3
p.G58Splc
c.172+52G>C
NM_017817.3
p.G58Splc
c.173-12524A>C
NM_017817.3
p.E60fs
c.178_179fs
NM_017817.3
p.E60delFs
c.178delC
NM_017817.3
p.H63Y
c.187C>T
NM_017817.3
p.S67F
c.200C>T
NM_017817.3
p.R71G
c.211C>G
NM_017817.3
p.R71L
c.212G>T
NM_017817.3
p.A73V
c.218C>T