Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_000860.6
p.L104delFs
c.310_311delAG
NM_000860.6
p.L59delFs
c.175_176delAG
NM_000860.6
p.A140P
c.418G>C
NM_000860.6
p.S193P
c.577T>C
NM_000860.6
p.G175_V176del2
c.523_527del6
NM_000860.6
p.M1L
c.1A>T
NM_000860.6
p.M1L
c.1A>C
NM_000860.6
p.L104fs
c.310_311fs
NM_000860.6
p.E40delFs
c.120delT
NM_000860.6
p.G18C
c.52G>T
NM_000860.6
p.E40*
c.118G>T
NM_000860.6
p.D73Splc
c.217+1G>A