Papers
RefSeq ID
Protein change
DNA change
1–12 of 500 variants
NM_005535.3
p.Q214R
c.641A>G
NM_005535.3
p.E597_T598Splc
c.1791+2T>G
NM_005535.3
p.M365T
c.1094T>C
NM_005535.3
p.G378R
c.1132G>C
NM_005535.3
p.G378R
c.1132G>A
NM_005535.3
p.R173P
c.518G>C
NM_005535.3
p.Q32*
c.94C>T
NM_005535.3
p.R213W
c.637C>T
NM_005535.3
p.Q261_P262Splc
c.783+1G>A
NM_005535.3
p.K305*
c.913A>T
NM_005535.3
p.V541_Q542delins
c.1623_1624delinsTT
NM_005535.3
p.C198R
c.592T>C