Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_006224.4
p.E248*
c.742G>T
NM_006224.4
p.L3insFs
c.8dupT
NM_006224.4
p.L4P
c.11T>C
NM_006224.4
p.L4insFs
c.11_12insT
NM_006224.4
p.Y7*
c.21T>G
NM_006224.4
p.Y7*
c.21T>A
NM_006224.4
p.V20E
c.59T>A
NM_006224.4
p.G36G
c.108T>C
NM_006224.4
p.Q56H
c.168G>T
NM_006224.4
p.Q56H
c.168G>C
NM_006224.4
p.P92L
c.275C>T
NM_006224.4
p.T96T
c.288C>T