Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_000046.5
p.S381Splc
c.1143-8T>G
Surrounding Variants
NM_000046.5
p.S381Splc
c.1143-1G>T
NM_000046.5
p.S381Splc
c.1143-1G>C
NM_000046.5
p.G383E
c.1148G>A
NM_000046.5
p.S384N
c.1151G>A
NM_000046.5
p.P385L
c.1154C>T
NM_000046.5
p.S381Splc
c.1143-27A>C
NM_000046.5
p.S386F
c.1157C>T
NM_000046.5
p.S386S
c.1158C>T
NM_000046.5
p.S384_S386del3
c.1150_1157del9
NM_000046.5
p.R388*
c.1162A>T
NM_000046.5
p.P387_R388insFs
c.1161_1162insC
NM_000046.5
p.R388fs
c.1162_1163fs