Papers
RefSeq ID
Protein change
DNA change
1–12 of 422 variants
NM_000474.4
p.Y103*
c.309C>G
NM_000474.4
p.Y103*
c.309C>A
NM_000474.4
p.K145E
c.433A>G
NM_000474.4
p.R118C
c.352C>T
NM_000474.4
p.S144R
c.432C>G
NM_000474.4
p.E126*
c.376G>T
NM_000474.4
p.S144R
c.430A>C
NM_000474.4
p.S144R
c.432C>A
NM_000474.4
p.Q28*
c.82C>T
NM_000474.4
p.R118H
c.353G>A
NM_000474.4
p.E65*
c.193G>T
NM_000474.4
p.A87_G92del0
c.259_276del18