Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_004950.5
p.E86D
c.258G>T
NM_004950.5
p.S150C
c.449C>G
NM_004950.5
p.R188*
c.562C>T
NM_004950.5
p.R194*
c.580C>T
NM_004950.5
p.I26I
c.78C>A
NM_004950.5
p.L43*
c.128T>A
NM_004950.5
p.E57*
c.169G>T
NM_004950.5
p.L69L
c.207C>T
NM_004950.5
p.P90S
c.268C>T
NM_004950.5
p.G108R
c.322G>C
NM_004950.5
p.G108R
c.322G>A
NM_004950.5
p.P116_C118del0
c.346_354del9