Papers
RefSeq ID
Protein change
DNA change
1–12 of 99 variants
NM_174978.3
p.L524F
c.1570C>T
NM_174978.3
p.H68_S69delFs
c.204_205delTA
NM_174978.3
p.K204_S205del2
c.610_614del6
NM_174978.3
p.E320*
c.958G>T
NM_174978.3
p.Q393_A394Splc
c.1180-3C>G
NM_174978.3
p.D3N
c.7G>A
NM_174978.3
p.H68fs
c.202_203fs
NM_174978.3
p.R170*
c.508C>T
NM_174978.3
p.K45_V46delFs
c.135_136delCT
NM_174978.3
p.S135_R136del2
c.403_407del6
NM_174978.3
p.A306V
c.917C>T
NM_174978.3
p.K45fs
c.133_134fs