Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_006279.5
p.A320P
c.958G>C
NM_006279.5
p.A13D
c.38C>A
NM_006279.5
p.D370Y
c.1108G>T
NM_006279.5
p.Y220*
c.660C>A
NM_006279.5
p.Y220*
c.660C>G
NM_006279.5
p.R101delFs
c.302delG
NM_006279.5
p.F102fs
c.304_305fs
NM_006279.5
p.R261*
c.781C>T
NM_174964.4
p.P282delFs
c.846delT
NM_006279.5
p.V43D
c.128T>A
NM_006279.5
p.L70Splc
c.209+9925A>G
NM_006279.5
p.A229T
c.685G>A