Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_016449.4
p.D126_A127del1
c.377_379delCAT
NM_016449.4
p.T42_T43delFs
c.126_127delTA
NM_016449.4
p.D126_A127del2
c.376_380del6
NM_016449.4
p.D171_A172del1
c.512_514delCAT
NM_016449.4
p.I4T
c.11T>C
NM_016449.4
p.D125_A127del0
c.374_379del6
NM_016449.4
p.E201D
c.603A>T
NM_016449.4
p.E201D
c.603A>C
NM_016449.4
p.T42_T43del1
c.125_127delTAG
NM_016449.4
p.D125_A127del3
c.373_380del9
NM_016449.4
p.R159Q
c.476G>A
NM_016449.4
p.A172ins1
c.514_515insATG