Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001001413.3
p.R491W
c.1471C>T
NM_001001413.3
p.M546T
c.1637T>C
NM_001001413.3
p.I446M
c.1338T>G
NM_001001413.3
p.M518V
c.1552A>G
NM_001001413.3
p.R540R
c.1620A>G
NM_001001413.3
p.R567W
c.1699C>T
NM_001001413.3
p.R588R
c.1764A>G
NM_001001413.3
p.Q661*
c.1981C>T
NM_001001413.3
p.Q6H
c.18A>T
NM_001001413.3
p.Q6H
c.18A>C
NM_001001413.3
p.L39V
c.115C>G
NM_001001413.3
p.L209_R211delFs
c.627_633del7