Papers
RefSeq ID
Protein change
DNA change
1–12 of 245 variants
NM_014215.3
p.C246R
c.736T>C
NM_014215.3
p.R1119H
c.3356G>A
NM_014215.3
p.R289H
c.866G>A
NM_014215.3
p.R554C
c.1660C>T
NM_014215.3
p.M1095I
c.3285G>T
NM_014215.3
p.M1095I
c.3285G>C
NM_014215.3
p.M1095I
c.3285G>A
NM_014215.3
p.D1139Y
c.3415G>T
NM_014215.3
p.R1157C
c.3469C>T
NM_014215.3
p.R1157H
c.3470G>A
NM_014215.3
p.L58P
c.173T>C
NM_014215.3
p.R87H
c.260G>A