Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_001193282.4
p.H527R
c.1580A>G
NM_001193282.4
p.K188*
c.562A>T
NM_001193282.4
p.R253C
c.757C>T
NM_001193282.4
p.V367I
c.1099G>A
NM_001193282.4
p.E411Q
c.1231G>C
NM_001193282.4
p.C76C
c.228C>T
NM_001193282.4
p.F93L
c.277T>C
NM_001193282.4
p.F93L
c.279C>A
NM_001193282.4
p.F93L
c.279C>G
NM_001193282.4
p.I106V
c.316A>G
NM_001193282.4
p.M115T
c.344T>C
NM_001193282.4
p.K117_F118Splc
c.351+4A>G