Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_080743.5
p.R119del1
c.355_356delTCT
NM_080743.5
p.R27C
c.79C>T
NM_080743.5
p.R28C
c.82C>T
NM_080743.5
p.R62Q
c.185G>A
NM_080743.5
p.H102Y
c.304C>T
NM_080743.5
p.S116R
c.346A>C
NM_080743.5
p.S116R
c.348C>G
NM_080743.5
p.S116R
c.348C>A
NM_080743.5
p.S125F
c.374C>T
NM_080743.5
p.H142P
c.425A>C
NM_080743.5
p.R144Q
c.431G>A
NM_080743.5
p.R153H
c.458G>A