Full data view for gene CNN2

Information The variants shown are described using the transcript reference sequence.

293 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Tissue     

Disease     

Gender     

Remarks     

Panel size     

Owner     
./. - c.64-31C>A 64 r.(=) p.(=) - intron 31 Unknown g.1031039C>A - CNN2_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.64-31C>A 64 r.(=) p.(=) - intron 31 Unknown g.1031039C>A - CNN2_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Both (homozygous) g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.185+21A>G 185 r.(=) p.(=) - intron 21 Unknown g.1031212A>G - CNN2_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Both (homozygous) g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-22C>T 186 r.(=) p.(=) - intron 22 Unknown g.1032369C>T - CNN2_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.186-21G>A 186 r.(=) p.(=) - intron 21 Unknown g.1032370G>A - CNN2_000018 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Both (homozygous) g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Both (homozygous) g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.252+17G>T 252 r.(=) p.(=) - intron 17 Unknown g.1032474G>T - CNN2_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.384G>T 384 r.(?) p.(=) - coding-synonymous - Unknown g.1032689G>T - CNN2_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Both (homozygous) g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.390+7C>T 390 r.(=) p.(=) - splice 7 Unknown g.1032702C>T - CNN2_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.420G>A 420 r.(?) p.(=) - coding-synonymous - Unknown g.1036444G>A - ABCA7_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.420G>A 420 r.(?) p.(=) - coding-synonymous - Unknown g.1036444G>A - ABCA7_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.420G>A 420 r.(?) p.(=) - coding-synonymous - Unknown g.1036444G>A - ABCA7_000034 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.420G>A 420 r.(?) p.(=) - coding-synonymous - Unknown g.1036444G>A - ABCA7_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.420G>A 420 r.(?) p.(=) - coding-synonymous - Unknown g.1036444G>A - ABCA7_000034 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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