Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_003101.6
p.Q526R
c.1577A>G
NM_003101.6
p.K120R
c.359A>G
NM_003101.6
p.E4*
c.10G>T
NM_003101.6
p.D23V
c.68A>T
NM_003101.6
p.D23E
c.69T>A
NM_003101.6
p.P29L
c.86C>T
NM_003101.6
p.I44M
c.132A>G
NM_003101.6
p.E60D
c.180A>C
NM_003101.6
p.E60D
c.180A>T
NM_003101.6
p.P63L
c.188C>T
NM_003101.6
p.D75del1
c.223_224delGAT
NM_003101.6
p.L80I
c.238C>A