Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
NM_020310.3
p.E4D
c.12G>C
NM_020310.3
p.L114P
c.341T>C
NM_020310.3
p.R119C
c.355C>T
NM_020310.3
p.P248L
c.743C>T
NM_020310.3
p.E298D
c.894G>T
NM_020310.3
p.E298D
c.894G>C
NM_020310.3
p.M1_S2insFs
c.3_4insT
NM_020310.3
p.I3insFs
c.7dupA
NM_020310.3
p.E4K
c.10G>A
NM_020310.3
p.E4E
c.12G>A
NM_020310.3
p.Q16delFs
c.46delG
NM_020310.3
p.Q18R
c.53A>G