Papers
RefSeq ID
Protein change
DNA change
1–12 of 236 variants
NM_001451.3
p.S52F
c.155C>T
NM_001451.3
p.R139L
c.416G>T
NM_001451.3
p.F77L
c.231C>A
NM_001451.3
p.H98Q
c.294C>A
NM_001451.3
p.H98Q
c.294C>G
NM_001451.3
p.A231_A233delFs
c.691_698del8
NM_001451.3
p.A231fs
c.691_692fs
NM_001451.3
p.F77L
c.229T>C
NM_001451.3
p.F77L
c.231C>G
NM_001451.3
p.G220C
c.658G>T
NM_001451.3
p.G19del1
c.55_56delGGC
NM_001451.3
p.G23_A24del1
c.68_70delGCG