Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
NM_024939.3
p.R315H
c.944G>A
NM_024939.3
p.R250Q
c.749G>A
NM_024939.3
p.R353Q
c.1058G>A
NM_024939.3
p.C372S
c.1114T>A
NM_024939.3
p.C372S
c.1115G>C
NM_024939.3
p.S508L
c.1523C>T
NM_024939.3
p.R520*
c.1558C>T
NM_024939.3
p.E547del1
c.1639_1640delCTC
NM_024939.3
p.L665W
c.1994T>G
NM_024939.3
p.R667C
c.1999C>T
NM_024939.3
p.E88Q
c.262G>C
NM_024939.3
p.L92Q
c.275T>A