Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_004760.3
p.E286Q
c.856G>C
NM_004760.3
p.K362E
c.1084A>G
NM_004760.3
p.E126D
c.378A>C
NM_004760.3
p.E126D
c.378A>T
NM_004760.3
p.G8delFs
c.23delG
NM_004760.3
p.S13P
c.37T>C
NM_004760.3
p.G19delFs
c.56delG
NM_004760.3
p.R32_P33del1
c.96_98delGCC
NM_004760.3
p.E45D
c.135G>C
NM_004760.3
p.E45D
c.135G>T
NM_004760.3
p.F55L
c.163T>C
NM_004760.3
p.F55L
c.165C>A