Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
NM_005198.5
p.Q200delFs
c.598delG
NM_005198.5
p.Q200fs
c.598_599fs
NM_005198.5
p.R344Splc
c.1031+1G>A
NM_005198.5
p.N241S
c.722A>G
NM_005198.5
p.R194Q
c.581G>A
NM_005198.5
p.Y270*
c.810T>A
NM_005198.5
p.E283K
c.847G>A
NM_005198.5
p.R377L
c.1130G>T
NM_005198.5
p.Y270*
c.810T>G
NM_005198.5
p.Q308*
c.922C>T
NM_005198.5
p.Q328R
c.983A>G
NM_005198.5
p.P185_L188del0
c.554_562del9