Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_152889.3
p.S50R
c.150C>G
NM_152889.3
p.A271V
c.812C>T
NM_152889.3
p.R317Q
c.950G>A
NM_152889.3
p.S50R
c.148A>C
NM_152889.3
p.S50R
c.150C>A
NM_152889.3
p.S182L
c.545C>T
NM_152889.3
p.V223M
c.667G>A
NM_152889.3
p.C24C
c.72C>T
NM_152889.3
p.A33Splc
c.97+3926T>A
NM_152889.3
p.A33Splc
c.98-5237A>C
NM_152889.3
p.R49*
c.145A>T
NM_152889.3
p.Q60_D61Splc
c.180+1473T>G