Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
NM_005194.4
p.P9P
c.27A>T
NM_005194.4
p.C11R
c.31T>C
NM_005194.4
p.A27T
c.79G>A
NM_005194.4
p.D116D
c.348C>T
NM_005194.4
p.H153insFs
c.458dupA
NM_005194.4
p.F157_P162insFs
c.469_484dup16
NM_005194.4
p.A292T
c.874G>A
NM_005194.4
p.M1delFs
c.1_2delAT
NM_005194.4
p.R3L
c.8G>T
NM_005194.4
p.L4_P13delFs
c.10_38del29
NM_005194.4
p.L4Q
c.11T>A
NM_005194.4
p.V5E
c.14T>A