Papers
RefSeq ID
Protein change
DNA change
1–12 of 161 variants
NM_020381.4
p.S382L
c.1145C>T
NM_020381.4
p.Q322*
c.964C>T
NM_020381.4
p.L94P
c.281T>C
NM_020381.4
p.W247*
c.740G>A
NM_020381.4
p.W247*
c.741G>A
NM_020381.4
p.P299S
c.895C>T
NM_020381.4
p.V52A
c.155T>C
NM_020381.4
p.H162R
c.485A>G
NM_020381.4
p.R163H
c.488G>A
NM_020381.4
p.L178L
c.532C>T
NM_020381.4
p.A199delFs
c.597delG
NM_020381.4
p.K210_V211Splc
c.630+1G>A