Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_006196.4
p.L100Q
c.299T>A
NM_006196.4
p.L100P
c.299T>C
NM_006196.4
p.L102Q
c.305T>A
NM_006196.4
p.Q184*
c.550C>T
NM_006196.4
p.L102P
c.305T>C
NM_006196.4
p.L102R
c.305T>G
NM_006196.4
p.C293Y
c.878G>A
NM_006196.4
p.T13delFs
c.38_39delCT
NM_006196.4
p.R17Q
c.50G>A
NM_006196.4
p.R38_I39del2
c.112_116del6
NM_006196.4
p.C54S
c.160T>A
NM_006196.4
p.C54S
c.161G>C