Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_016505.4
p.L15F
c.43C>T
NM_016505.4
p.F19S
c.56T>C
NM_016505.4
p.V44delFs
c.131delT
NM_016505.4
p.R46Q
c.137G>A
NM_016505.4
p.R74*
c.220C>T
NM_016505.4
p.N78D
c.232A>G
NM_016505.4
p.R80T
c.239G>C
NM_016505.4
p.K82delFs
c.245delA
NM_016505.4
p.L98delFs
c.293delT
NM_016505.4
p.E106delFs
c.317delA
NM_016505.4
p.E106fs
c.316_317fs
NM_016505.4
p.Q116L
c.347A>T