Papers
RefSeq ID
Protein change
DNA change
1–12 of 121 variants
NM_002703.5
p.Q488*
c.1462C>T
NM_002703.5
p.R351W
c.1051C>T
NM_002703.5
p.G55A
c.164G>C
NM_002703.5
p.E412E
c.1236G>A
NM_002703.5
p.M1L
c.1A>T
NM_002703.5
p.M1V
c.1A>G
NM_002703.5
p.M1L
c.1A>C
NM_002703.5
p.E11E
c.33A>G
NM_002703.5
p.V14E
c.41T>A
NM_002703.5
p.V14_F15insFs
c.42_43ins5
NM_002703.5
p.A19T
c.55G>A
NM_002703.5
p.W23R
c.67T>C