Papers
RefSeq ID
Protein change
DNA change
1–12 of 689 variants
NM_016180.5
p.L374F
c.1122G>C
NM_016180.5
p.L374F
c.1122G>T
NM_016180.5
p.E272K
c.814G>A
NM_016180.5
p.D157N
c.469G>A
NM_016180.5
p.D160H
c.478G>C
NM_016180.5
p.V507L
c.1519G>C
NM_016180.5
p.V507L
c.1519G>T
NM_016180.5
p.D153N
c.457G>A
NM_016180.5
p.V88delFs
c.264delG
NM_016180.5
p.W202C
c.606G>T
NM_016180.5
p.W202C
c.606G>C
NM_016180.5
p.G349R
c.1045G>A