Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_017516.3
p.K21T
c.62A>C
NM_017516.3
p.H26delFs
c.76delC
NM_017516.3
p.H26fs
c.76_77fs
NM_017516.3
p.P43A
c.127C>G
NM_017516.3
p.T44T
c.132C>A
NM_017516.3
p.E57insFs
c.171dupG
NM_017516.3
p.K63R
c.188A>G
NM_017516.3
p.G89R
c.265G>A
NM_017516.3
p.G89R
c.265G>C
NM_017516.3
p.I179fs
c.535_536fs
NM_017516.3
p.K180E
c.538A>G
NM_017516.3
p.V202delFs
c.605_606delTG