Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_005297.4
p.R248Q
c.743G>A
NM_005297.4
p.V66M
c.196G>A
NM_005297.4
p.K320Q
c.958A>C
NM_005297.4
p.S29*
c.86C>G
NM_005297.4
p.K67Q
c.199A>C
NM_005297.4
p.K68Q
c.202A>C
NM_005297.4
p.K70Q
c.208A>C
NM_005297.4
p.K153Q
c.457A>C
NM_005297.4
p.R155Q
c.464G>A
NM_005297.4
p.K156Q
c.466A>C
NM_005297.4
p.Y181H
c.541T>C
NM_005297.4
p.M1T
c.2T>C