Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_003301.7
p.R17*
c.49C>T
NM_003301.7
p.I131T
c.392T>C
NM_003301.7
p.P81R
c.242C>G
NM_003301.7
p.A118T
c.352G>A
NM_003301.7
p.I40F
c.118A>T
NM_003301.7
p.T117del1
c.349_350delACA
NM_003301.7
p.D71A
c.212A>C
NM_003301.7
p.C98S
c.292T>A
NM_003301.7
p.C98S
c.293G>C
NM_003301.7
p.H129Q
c.387C>A
NM_003301.7
p.H129Q
c.387C>G
NM_003301.7
p.Q134*
c.400C>T