Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_001135726.3
p.R32Q
c.95G>A
NM_001135726.3
p.T90T
c.270A>T
NM_001135726.3
p.S102R
c.304A>C
NM_001135726.3
p.S102R
c.306C>A
NM_001135726.3
p.S102R
c.306C>G
NM_001135726.3
p.P109S
c.325C>T
NM_001135726.3
p.R136H
c.407G>A
NM_001135726.3
p.R167W
c.499A>T
NM_001135726.3
p.R201P
c.602G>C
NM_001135726.3
p.Q208K
c.622C>A
NM_001135726.3
p.S284Splc
c.851+43G>A
NM_001135726.3
p.S284Splc
c.852-2658G>A