Difference between revisions of "Researching SNPs Gaucher Disease"

From Bioinformatikpedia
(HGMD)
(HGMD)
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== HGMD ==
 
== HGMD ==
   
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{| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 2px 0 2px 0; text-align:right" width="300px"
HGDM cotains [[gaucher_hgmd_mutations|250 mutations]]
 
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|- style="background-color: lightgrey"
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! style="text-align:left" | Type
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! Count
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|-
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| colspan=2 style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 1px 0 0 0"|
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|-
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| style="text-align:left" | [[gaucher_hgmd_mutations|Missense/nonsense]]
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| 250
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|-
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| style="text-align:left" | Splicing
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| 15
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|-
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| style="text-align:left" | Regulatory
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| 0
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|-
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| style="text-align:left" | Small deletions
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| 26
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|-
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| style="text-align:left" | Small insertions
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| 13
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|-
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| style="text-align:left" | Small indels
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| 2
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|-
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| style="text-align:left" | Gross deletions
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| 3
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|-
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| style="text-align:left" | Gross insertions/duplications
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| 1
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|-
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| style="text-align:left" | Complex rearrangements
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| 15
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|-
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| colspan=2 style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 1px 0 0 0"|
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|-
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| style="text-align:left" | Public total
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| 325
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|}

Revision as of 20:12, 7 June 2012

HGMD

Type Count
Missense/nonsense 250
Splicing 15
Regulatory 0
Small deletions 26
Small insertions 13
Small indels 2
Gross deletions 3
Gross insertions/duplications 1
Complex rearrangements 15
Public total 325