Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_019026.6
p.S47delFs
c.139_140delCT
NM_019026.6
p.R87*
c.259C>T
NM_019026.6
p.I108Splc
c.323+3G>C
NM_019026.6
p.F98delFs
c.292_293delAA
NM_019026.6
p.K53M
c.158A>T
NM_019026.6
p.E59delFs
c.176_177delCT
NM_019026.6
p.D140A
c.419A>C
NM_019026.6
p.G176_F177del2
c.526_530del6
NM_019026.6
p.M1K
c.2T>A
NM_019026.6
p.M4I
c.12G>A
NM_019026.6
p.A6V
c.17C>T
NM_019026.6
p.V12delFs
c.35delA