Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
NM_004462.5
p.E193_G198del6
c.577_593del18
NM_004462.5
p.G22delFs
c.65_66delGG
NM_004462.5
p.K45R
c.134A>G
NM_004462.5
p.R66R
c.198C>G
NM_004462.5
p.L76_R77del0
c.226_231del6
NM_004462.5
p.Y171S
c.512A>C
NM_004462.5
p.Y171F
c.512A>T
NM_004462.5
p.D219E
c.657C>A
NM_004462.5
p.D219E
c.657C>G
NM_004462.5
p.D223E
c.669C>A
NM_004462.5
p.D223E
c.669C>G
NM_004462.5
p.G226_W231del6
c.676_692del18