Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_000355.4
p.I23V
c.67A>G
NM_000355.4
p.R259P
c.776G>C
NM_000355.4
p.S348F
c.1043C>T
NM_000355.4
p.R399Q
c.1196G>A
NM_000355.4
p.R399*
c.1195C>T
NM_000355.4
p.L376S
c.1127T>C
NM_000355.4
p.G94S
c.280G>A
NM_000355.4
p.G143Splc
c.427+2T>G
NM_000355.4
p.E22Splc
c.64+4A>T
NM_000355.4
p.Q36*
c.106C>T
NM_000355.4
p.K77M
c.230A>T
NM_000355.4
p.L166delFs
c.497_498delTC