Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_003281.4
p.R174Q
c.521G>A
NM_003281.4
p.K176del1
c.526_527delCTT
NM_003281.4
p.R43H
c.128G>A
NM_003281.4
p.R92W
c.274A>T
NM_003281.4
p.V134E
c.401T>A
NM_003281.4
p.N141H
c.421A>C
NM_003281.4
p.R162W
c.484A>T
NM_003281.4
p.K175*
c.523A>T
NM_003281.4
p.R14H
c.41G>A
NM_003281.4
p.L18P
c.53T>C
NM_003281.4
p.R37C
c.109C>T
NM_003281.4
p.R48C
c.142C>T