Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_001136046.3
p.K507_Q508delFs
c.1520_1523del4
NM_001136046.3
p.K507fs
c.1519_1520fs
NM_001136046.3
p.Y403*
c.1209T>A
NM_001136046.3
p.P550delFs
c.1650delC
NM_001136046.3
p.Y403*
c.1209T>G
NM_001136046.3
p.L541fs
c.1621_1622fs
NM_001136046.3
p.L541_D546Fs
c.1622_1636delinsCCACFs
NM_001136046.3
p.V204I
c.610G>A
NM_001136046.3
p.R276Q
c.827G>A
NM_001136046.3
p.W346*
c.1037G>A
NM_001136046.3
p.W346*
c.1038G>A
NM_001136046.3
p.P420_R421delFs
c.1260_1261delCC