Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
NM_020714.3
p.A286S
c.856G>T
NM_020714.3
p.E16D
c.48G>T
NM_020714.3
p.E16D
c.48G>C
NM_020714.3
p.Q39_M40Splc
c.117+6A>G
NM_020714.3
p.R114S
c.342A>T
NM_020714.3
p.D130H
c.388G>C
NM_020714.3
p.L143P
c.428T>C
NM_020714.3
p.E188K
c.562G>A
NM_020714.3
p.K192E
c.574A>G
NM_020714.3
p.K253N
c.759G>T
NM_020714.3
p.K253N
c.759G>C
NM_020714.3
p.A342T
c.1024G>A