LOVD - Variant listings for WAS

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135 public entries
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Path. Hide Path. column Descending
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dbSNP ID Hide dbSNP ID column Descending
Ascending

DNA change   Descending
Ascending

Protein Hide Protein column Descending
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Race Hide Race column Descending
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Reference Hide Reference column Descending
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Ethnic origin Hide Ethnic origin column Descending
Ascending
?/? rs28935178
    + 1113 others
p.P58R - - -
?/? rs28936079
    + 1113 others
p.L270P - - -
+/+ - c.18G>A
    + 3359 others
p.M6I - - -
+/+ - c.35G>C
    + 3359 others
p.G12A - - -
+/+ - c.37C>T
    + 3359 others
p.R13X - - -
+/+ - c.40G>T
    + 3359 others
p.G14X - - -
+/+ - c.58C>T
    + 3359 others
p.Q20X - - -
+/+ - c.70T>C
    + 3359 others
p.S24P - - -
+/+ - c.71C>T
    + 3359 others
p.S24F - - -
+/+ - c.79C>T
    + 3359 others
p.L27F - - -
+/+ - c.91G>A
    + 3359 others
p.E31K - - -
+/+ - c.92A>G
    + 3359 others
p.E31G - - -
+/+ - c.93G>C
    + 3359 others
p.E31D - - -
+/+ - c.97C>T
    + 3359 others
p.Q33X - - -
+/+ - c.100C>T
    + 3359 others
p.R34X - - -
+/+ - c.104T>A
    + 3359 others
p.L35H - - -
+/+ - c.116T>C
    + 3359 others
p.L39P - - -
+/+ - c.119G>T
    + 3359 others
p.G40V - - -
+/+ - c.121C>G
    + 3359 others
p.R41G - - -
+/+ - c.121C>T
    + 3359 others
p.R41X - - -
?/? rs11545907 c.121C>T
    + 1113 others
p.R41X - - -
+/+ - c.129C>G
    + 3359 others
p.C43W - - -
+/+ - c.134C>T
    + 3359 others
p.T45M - - -
+/+ - c.137T>C
    + 3359 others
p.L46P - - -
+/+ - c.140C>A
    + 3359 others
p.A47D - - -
+/+ - c.143C>T
    + 3359 others
p.T48I - - -
+/+ - c.156G>C
    + 3359 others
p.Q52H - - -
+/+ - c.162C>A
    + 3359 others
p.Y54X - - -
+/+ - c.167C>T
    + 3359 others
p.A56V - - -
+/+ - c.172C>G
    + 3359 others
p.P58A - - -
+/+ - c.173C>G
    + 3359 others
p.P58R - - -
+/+ - c.173C>T
    + 3359 others
p.P58L - - -
+/+ - c.190T>C
    + 3359 others
p.W64R - - -
+/+ - c.208G>T
    + 3359 others
p.G70W - - -
+/+ - c.217T>C
    + 3359 others
p.C73R - - -
+/+ - c.218G>A
    + 3359 others
p.C73Y - - -
+/+ - c.221T>C
    + 3359 others
p.F74S - - -
+/+ - c.223G>A
    + 3359 others
p.V75M - - -
+/+ - c.227A>C
    + 3359 others
p.K76T - - -
+/+ - c.229G>C
    + 3359 others
p.D77H - - -
+/+ - c.230A>G
    + 3359 others
p.D77G - - -
+/+ - c.238C>T
    + 3359 others
p.Q80X - - -
+/+ - c.244T>C
    + 3359 others
p.S82P - - -
+/+ - c.245C>T
    + 3359 others
p.S82F - - -
+/+ - c.248A>G
    + 3359 others
p.Y83C - - -
+/+ - c.250T>C
    + 3359 others
p.F84L - - -
+/+ - c.254T>C
    + 3359 others
p.I85T - - -
+/+ - c.256C>A
    + 3359 others
p.R86S - - -
+/+ - c.256C>G
    + 3359 others
p.R86G - - -
+/+ - c.256C>T
    + 3359 others
p.R86C - - -
+/+ - c.257G>A
    + 3359 others
p.R86H - - -
+/+ - c.257G>C
    + 3359 others
p.R86P - - -
+/+ - c.257G>T
    + 3359 others
p.R86L - - -
+/+ - c.264C>A
    + 3359 others
p.Y88X - - -
+/+ - c.266G>A
    + 3359 others
p.G89D - - -
?/? rs58371799 c.273+11_273+12ins2
    + 1113 others
- - - -
+/+ - c.291G>A
    + 3359 others
p.W97X - - -
+/+ - c.291G>C
    + 3359 others
p.W97C - - -
+/+ - c.295C>T
    + 3359 others
p.Q99X - - -
+/+ - c.296A>G
    + 3359 others
p.Q99R - - -
+/+ - c.298G>T
    + 3359 others
p.E100X - - -
+/+ - c.300G>T
    + 3359 others
p.E100D - - -
+/+ - c.302T>C
    + 3359 others
p.L101P - - -
+/+ - c.302T>G
    + 3359 others
p.L101R - - -
+/+ - c.310C>T
    + 3359 others
p.Q104X - - -
+/+ - c.314T>C
    + 3359 others
p.L105P - - -
+/+ - c.319T>C
    + 3359 others
p.Y107H - - -
+/+ - c.320A>G
    + 3359 others
p.Y107C - - -
+/+ - c.331A>C
    + 3359 others
p.T111P - - -
+/+ - c.340T>A
    + 3359 others
p.F114I - - -
+/+ - c.342C>G
    + 3359 others
p.F114L - - -
+/+ - c.343C>T
    + 3359 others
p.H115Y - - -
+/+ - c.356G>A
    + 3359 others
p.G119E - - -
?/? rs35351086 c.361-48_361-47insG
    + 1113 others
- - - -
+/+ - c.366C>A
    + 3359 others
p.C122X - - -
+/+ - c.367C>A
    + 3359 others
p.Q123K - - -
+/+ - c.367C>T
    + 3359 others
p.Q123X - - -
+/+ - c.371C>A
    + 3359 others
p.A124E - - -
+/+ - c.373G>A
    + 3359 others
p.G125R - - -
+/+ - c.373G>C
    + 3359 others
p.G125R - - -
+/+ - c.377T>C
    + 3359 others
p.L126P - - -
+/+ - c.381C>G
    + 3359 others
p.N127K - - -
+/+ - c.382T>C
    + 3359 others
p.F128L - - -
+/+ - c.383T>C
    + 3359 others
p.F128S - - -
+/+ - c.391G>A
    + 3359 others
p.E131K - - -
+/+ - c.397G>A
    + 3359 others
p.E133K - - -
+/+ - c.397G>C
    + 3359 others
p.E133Q - - -
+/+ - c.399G>T
    + 3359 others
p.E133D - - -
+/+ - c.400G>A
    + 3359 others
p.A134T - - -
+/+ - c.401C>T
    + 3359 others
p.A134V - - -
+/+ - c.413G>C
    + 3359 others
p.R138P - - -
+/+ - c.424C>T
    + 3359 others
p.Q142X - - -
+/+ - c.472C>T
    + 3359 others
p.Q158X - - -
+/+ - c.553C>T
    + 3359 others
p.Q185X - - -
+/+ - c.559G>T
    + 3359 others
p.G187C - - -
?/? rs2737796 c.559+77G>C
    + 1113 others
- - - -
+/+ - c.607C>T
    + 3359 others
p.Q203X - - -
+/+ - c.631C>T
    + 3359 others
p.R211X - - -
+/+ - c.683C>G
    + 3359 others
p.S228X - - -
+/+ - c.707C>G
    + 3359 others
p.A236G - - -
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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Race: Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Ethnic origin: Ethnic origin of patient