Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_002867.4
p.M187V
c.559A>G
NM_002867.4
p.S3L
c.8C>T
NM_002867.4
p.Q17R
c.50A>G
NM_002867.4
p.N18I
c.53A>T
NM_002867.4
p.V55M
c.163G>A
NM_002867.4
p.R66H
c.197G>A
NM_002867.4
p.E68K
c.202G>A
NM_002867.4
p.E68A
c.203A>C
NM_002867.4
p.W76_D77Splc
c.229-15037C>A
NM_002867.4
p.R83Q
c.248G>A
NM_002867.4
p.I87M
c.261C>G
NM_002867.4
p.A95T
c.283G>A