Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_199287.3
p.R229Q
c.686G>A
NM_199287.3
p.H127Q
c.381C>A
NM_199287.3
p.H127Q
c.381C>G
NM_199287.3
p.R177W
c.529C>T
NM_199287.3
p.M1T
c.2T>C
NM_199287.3
p.A9V
c.26C>T
NM_199287.3
p.R36C
c.106C>T
NM_199287.3
p.R44L
c.131G>T
NM_199287.3
p.K48_K50del0
c.144_149del6
NM_199287.3
p.R74S
c.220C>A
NM_199287.3
p.R95T
c.284G>C
NM_199287.3
p.E105Q
c.313G>C