Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_000900.5
p.P46P
c.138T>C
NM_000900.5
p.E21Splc
c.62-2A>G
NM_000900.5
p.N32Splc
c.94+1G>A
NM_000900.5
p.T102A
c.304A>G
NM_000900.5
p.E21Splc
c.61+1G>A
NM_000900.5
p.E27*
c.79G>T
NM_000900.5
p.F43I
c.127T>A
NM_000900.5
p.Y29*
c.87T>A
NM_000900.5
p.M1T
c.2T>C
NM_000900.5
p.S3G
c.7A>G
NM_000900.5
p.V15delFs
c.43delC
NM_000900.5
p.E60*
c.178G>T