Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_001011547.3
p.C294W
c.882T>G
NM_001011547.3
p.A600V
c.1799C>T
NM_001011547.3
p.I269M
c.807T>G
NM_001011547.3
p.G103R
c.307G>A
NM_001011547.3
p.G103R
c.307G>C
NM_001011547.3
p.E593*
c.1777G>T
NM_001011547.3
p.R58C
c.172C>T
NM_001011547.3
p.V152M
c.454G>A
NM_001011547.3
p.G286R
c.856G>A
NM_001011547.3
p.G286R
c.856G>C
NM_001011547.3
p.G516R
c.1546G>A
NM_001011547.3
p.G516R
c.1546G>C