Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_144648.3
p.R528H
c.1583G>A
NM_144648.3
p.R552H
c.1655G>A
NM_144648.3
p.R682C
c.2044C>T
NM_144648.3
p.M1insFs
c.2_3insC
NM_144648.3
p.R12*
c.34A>T
NM_144648.3
p.R22I
c.65G>T
NM_144648.3
p.A34T
c.100G>A
NM_144648.3
p.S53N
c.158G>A
NM_144648.3
p.D77_E78delFs
c.231_232delTG
NM_144648.3
p.E84*
c.250G>T
NM_144648.3
p.E88Q
c.262G>C
NM_144648.3
p.E94K
c.280G>A