Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_002745.5
p.C40Splc
c.120-20C>T
Surrounding Variants
NM_002745.5
p.C40Splc
c.120-10C>T
NM_002745.5
p.A42T
c.124G>A
NM_002745.5
p.A42Fs
c.125delinsTTFs
NM_002745.5
p.A42G
c.125C>G
NM_002745.5
p.A42D
c.125C>A
NM_002745.5
p.Y43F
c.128A>T
NM_002745.5
p.Y43Y
c.129T>C
NM_002745.5
p.D44N
c.130G>A
NM_002745.5
p.D44A
c.131A>C
NM_002745.5
p.D44E
c.132T>G
NM_002745.5
p.D44E
c.132T>A
NM_002745.5
p.V46I
c.136G>A