Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
NM_005839.4
p.R208Q
c.623G>A
NM_005839.4
p.K216_L223del0
c.647_667del21
NM_005839.4
p.P321L
c.962C>T
NM_005839.4
p.G4A
c.11G>C
NM_005839.4
p.R7_G8Splc
c.22-106T>G
NM_005839.4
p.R7_G8Splc
c.22-105A>G
NM_005839.4
p.R16Q
c.47G>A
NM_005839.4
p.F17_S18insFs
c.51_52insT
NM_005839.4
p.L25M
c.73C>A
NM_005839.4
p.V47insFs
c.140_141insT
NM_005839.4
p.R55*
c.163A>T
NM_005839.4
p.K78fs
c.232_233fs