LOVD - Variant listings for WAS

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132 entries
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dbSNP ID Hide dbSNP ID column Descending
Ascending

DNA change   Descending
Ascending

Protein Hide Protein column Descending
Ascending
rs28935178
  (Reported 2 times)
p.P58R
- c.18G>A p.M6I
- c.35G>C p.G12A
- c.37C>T p.R13X
- c.40G>T p.G14X
- c.58C>T p.Q20X
- c.70T>C p.S24P
- c.71C>T p.S24F
- c.79C>T p.L27F
- c.91G>A p.E31K
- c.92A>G p.E31G
- c.93G>C p.E31D
- c.97C>T p.Q33X
- c.100C>T p.R34X
- c.104T>A p.L35H
- c.116T>C p.L39P
- c.119G>T p.G40V
- c.121C>G p.R41G
- c.121C>T
  (Reported 2 times)
p.R41X
- c.129C>G p.C43W
- c.134C>T p.T45M
- c.137T>C p.L46P
- c.140C>A p.A47D
- c.143C>T p.T48I
- c.156G>C p.Q52H
- c.162C>A p.Y54X
- c.167C>T p.A56V
- c.172C>G p.P58A
- c.173C>G p.P58R
- c.173C>T p.P58L
- c.190T>C p.W64R
- c.208G>T p.G70W
- c.217T>C p.C73R
- c.218G>A p.C73Y
- c.221T>C p.F74S
- c.223G>A p.V75M
- c.227A>C p.K76T
- c.229G>C p.D77H
- c.230A>G p.D77G
- c.238C>T p.Q80X
- c.244T>C p.S82P
- c.245C>T p.S82F
- c.248A>G p.Y83C
- c.250T>C p.F84L
- c.254T>C p.I85T
- c.256C>A p.R86S
- c.256C>G p.R86G
- c.256C>T p.R86C
- c.257G>A p.R86H
- c.257G>C p.R86P
- c.257G>T p.R86L
- c.264C>A p.Y88X
- c.266G>A p.G89D
rs58371799 c.273+11_273+12ins2 -
- c.291G>A p.W97X
- c.291G>C p.W97C
- c.295C>T p.Q99X
- c.296A>G p.Q99R
- c.298G>T p.E100X
- c.300G>T p.E100D
- c.302T>C p.L101P
- c.302T>G p.L101R
- c.310C>T p.Q104X
- c.314T>C p.L105P
- c.319T>C p.Y107H
- c.320A>G p.Y107C
- c.331A>C p.T111P
- c.340T>A p.F114I
- c.342C>G p.F114L
- c.343C>T p.H115Y
- c.356G>A p.G119E
rs35351086 c.361-48_361-47insG -
- c.366C>A p.C122X
- c.367C>A p.Q123K
- c.367C>T p.Q123X
- c.371C>A p.A124E
- c.373G>A p.G125R
- c.373G>C p.G125R
- c.377T>C p.L126P
- c.381C>G p.N127K
- c.382T>C p.F128L
- c.383T>C p.F128S
- c.391G>A p.E131K
- c.397G>A p.E133K
- c.397G>C p.E133Q
- c.399G>T p.E133D
- c.400G>A p.A134T
- c.401C>T p.A134V
- c.413G>C p.R138P
- c.424C>T p.Q142X
- c.472C>T p.Q158X
- c.553C>T p.Q185X
- c.559G>T p.G187C
rs2737796 c.559+77G>C -
- c.607C>T p.Q203X
- c.631C>T p.R211X
- c.683C>G p.S228X
- c.707C>G p.A236G
rs2737798 c.734+99G>C -
- c.756G>A p.W252X
1 - 100
[<-] 1 2 [->]


Legend: [ WAS full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
dbSNP ID: rs# DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level.