Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_003125.3
p.T11I
c.32C>T
NM_003125.3
p.P14_K22del0
c.41_64del24
NM_003125.3
p.T11fs
c.31_32fs
NM_003125.3
p.T11insFs
c.31_32insT
NM_003125.3
p.Q17H
c.51G>C
NM_003125.3
p.Q17H
c.51G>T
NM_003125.3
p.Q30E
c.88C>G
NM_003125.3
p.E31_P32insT
c.91_95ins3
NM_003125.3
p.H50P
c.149A>C
NM_003125.3
p.Q58H
c.174G>C
NM_003125.3
p.Q58H
c.174G>T
NM_003125.3
p.K60M
c.179A>T