Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_001184917.3
p.R377*
c.1129C>T
NM_002861.5
p.C30G
c.88T>G
NM_002861.5
p.C30G
c.88T>G
NM_001184917.3
p.H244Y
c.730C>T
NM_001184917.3
p.K319N
c.957G>T
NM_001184917.3
p.K319N
c.957G>C
NM_002861.5
p.Q377*
c.1129C>T
NM_002861.5
p.M48T
c.143T>C
NM_002861.5
p.D175fs
c.523_524fs
NM_002861.5
p.D175_S176delFs
c.524_527del4
NM_001184917.3
p.H244Y
c.730C>T
NM_002861.5
p.V230E
c.689T>A