Papers
RefSeq ID
Protein change
DNA change
1–12 of 190 variants
NM_016219.5
p.R334C
c.1000C>T
NM_016219.5
p.E397K
c.1189G>A
NM_016219.5
p.W473*
c.1418G>A
NM_016219.5
p.S409P
c.1225T>C
NM_016219.5
p.W473*
c.1419G>A
NM_016219.5
p.W621*
c.1863G>A
NM_016219.5
p.R597W
c.1789C>T
NM_016219.5
p.I254fs
c.760_761fs
NM_016219.5
p.R334P
c.1001G>C
NM_016219.5
p.Q617*
c.1849C>T
NM_016219.5
p.W621*
c.1862G>A
NM_016219.5
p.E689*
c.2065G>T