Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_006761.5
p.M1insFs
c.3dupG
NM_006761.5
p.K12K
c.36G>A
NM_006761.5
p.D34N
c.100G>A
NM_006761.5
p.E116K
c.346G>A
NM_006761.5
p.E162K
c.484G>A
NM_006761.5
p.M1insFs
c.2_3insT
NM_006761.5
p.M1_D2insFs
c.3_4insA
NM_006761.5
p.E15A
c.44A>C
NM_006761.5
p.E18D
c.54G>C
NM_006761.5
p.D21V
c.62A>T
NM_006761.5
p.D21A
c.62A>C
NM_006761.5
p.E22Splc
c.64+6T>C