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- 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.489+3A>G
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621+ 3A- >G
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intron 4
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A to G at 621+ 3
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mRNA splicing defect
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c.877C>A
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p.Leu293Met
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L293M
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exon 8
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C to A at 1009
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Leu to Met at 293
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c.1798A>G
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p.Arg600Gly
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R600G
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exon 14
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A to G at 1930
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Arg to Gly at 600
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c.2083_2084insG
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p.Glu695GlyfsX35
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2215insG
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exon 14
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insertion of G at 2215
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frameshift
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c.2087A>G
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p.Lys696Arg
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exon 14
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|
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c.2089_2090insA
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p.Arg697LysfsX33
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2221insA
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exon 14
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insertion of A at 2221
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Frameshift a premature stop codon appears 33 codons further
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c.2089_2090insA
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p.Arg697LysfsX33
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2221insA
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exon 14
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insertion of A at 2221
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Frameshift a premature stop codon appears 33 codons further
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c.2900T>C
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p.Leu967Ser
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L967S
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exon 17
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T to C at 3032
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Leu to Ser at 967 (oligospermia?)
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c.3208C>T
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p.Arg1070Trp
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R1070W
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exon 20
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C to T at 3340
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Arg to Trp at 1070
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c.3293G>A
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p.Trp1098X
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W1098X(TAG)
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exon 20
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G to A at 3425
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Trp to Stop at 1098
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c.3294G>A
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p.Trp1098X
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W1098X(TGA)
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exon 20
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G to A at 3426
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Trp to Stop at 1098
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c.3469-17T>C
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3601- 17T- >C
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intron 21
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T to C at 3601- 17
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mRNA splicing defect?
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c.3876delA
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p.Val1293TyrfsX35
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4006delA
|
exon 24
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deletion of A at 4006
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frameshift
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c.3877G>A
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p.Val1293Ile
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V1293I
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exon 24
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G to A at 4009
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Val to Ile at 1293
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c.4389G>T
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p.Gln1463His
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Q1463H
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exon 27
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G to T at 4521
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Gln to His a 1463
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