Papers
RefSeq ID
Protein change
DNA change
1–12 of 121 variants
NM_001136219.3
p.H167R
c.500A>G
NM_001136219.3
p.E260_P261Splc
c.780+1G>A
NM_001136219.3
p.L274P
c.821T>C
NM_001136219.3
p.Q63*
c.187C>T
NM_021642.5
p.H166R
c.497A>G
NM_001136219.3
p.Q63R
c.188A>G
NM_001136219.3
p.D32N
c.94G>A
NM_001136219.3
p.P129R
c.386C>G
NM_001136219.3
p.T226I
c.677C>T
NM_001136219.3
p.L291L
c.871C>T
NM_001136219.3
p.A31G
c.92C>G
NM_001136219.3
p.V58V
c.174G>C