Difference between revisions of "Researching SNPs Gaucher Disease"
From Bioinformatikpedia
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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" |
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− | 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 |
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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 |