Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_005583.5
p.M1_C2insFs
c.3_4insA
NM_005583.5
p.V10delFs
c.28delC
NM_005583.5
p.S25G
c.73A>G
NM_005583.5
p.P28del1
c.82_83delAGG
NM_005583.5
p.P32L
c.95C>T
NM_005583.5
p.P34L
c.101C>T
NM_005583.5
p.P39H
c.116C>A
NM_005583.5
p.E44D
c.132G>T
NM_005583.5
p.E44D
c.132G>C
NM_005583.5
p.R48Q
c.143G>A
NM_005583.5
p.G59C
c.175G>T
NM_005583.5
p.I63F
c.187A>T