Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
NM_014729.3
p.L86delFs
c.256delG
NM_014729.3
p.K256del1
c.766_767delCTT
NM_014729.3
p.Y30fs
c.88_89fs
NM_014729.3
p.Y30*
c.90C>G
NM_014729.3
p.Y30*
c.90C>A
NM_014729.3
p.Y30delFs
c.89_90delGT
NM_014729.3
p.Q178*
c.532C>T
NM_014729.3
p.D300D
c.900C>T
NM_014729.3
p.S354L
c.1061C>T
NM_014729.3
p.M1insFs
c.1dupA
NM_014729.3
p.D2insFs
c.5dupA
NM_014729.3
p.Q11K
c.31C>A