SEARCH TIPS
- Search is case insensitive.
- Search term can consist of a whole word or part of a word e.g.
- Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
- Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).
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cDNA Name
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Protein Name
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Legacy Name
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Region
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Description
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Consequence
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c.3873G>C
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p.Gln1291His
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Q1291H
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exon 23
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G to C at 4005
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Gln to His at 1291; mRNA splicing defect (?)
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c.3873+1G>A
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4005+ 1G- >A
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intron 23
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G to A at 4005+ 1
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mRNA splicing defect
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c.3873+23delA
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4005+ 23delA
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intron 23
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Deletion of A at 4005+ 23
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Sequence variation?
mRNA splicing defect?
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c.3873+29G>C
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4005+ 29G- >C
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intron 23
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G to C at 4005+ 29
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Splicing
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c.3873+2T>C
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4005+ 2T- >C
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intron 23
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T to C at 4005+ 2
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mRNA splicing defect
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c.3873+33A>G
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4005+ 33A- >G
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intron 23
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A to G at 4005+ 33
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Splicing
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c.3873+117T>G
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4005+ 117T/G
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intron 23
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T or G at 4005+ 117
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sequence variation
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c.3873+121T[6_8]
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4005+ 121delTT
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intron 23
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8T or 6T at 4005+ 121
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sequence variation
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c.3873+3G>T
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4005+ 3G>T
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intron 23
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4005+ 3G>T
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