Full data view for gene COL4A1

Information The variants shown are described using the NM_001845.4 transcript reference sequence.

632 entries on 7 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.-790G>A -790 r.(=) p.(=) - utr-5 - Unknown g.110960164C>T - COL4A1_000160 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-790G>A -790 r.(=) p.(=) - utr-5 - Unknown g.110960164C>T - COL4A1_000160 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Unknown g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.19G>C 19 r.(?) p.(Val7Leu) - missense - Both (homozygous) g.110959356C>G - COL4A1_000053 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.85-11T>C 85 r.(=) p.(=) - intron 11 Unknown g.110895092A>G - COL4A1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Maternal (inferred) g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Maternal (inferred) g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Both (homozygous) g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.234+8C>T 234 r.(=) p.(=) - splice 8 Unknown g.110866265G>A - COL4A1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.279+20A>T 279 r.(=) p.(=) - intron 20 Unknown g.110866109T>A - COL4A1_000159 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Unknown g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.432T>A 432 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.110864225A>T - COL4A1_000052 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.441+34delC 441 r.(=) p.(=) - intron 34 Unknown g.110864182del - COL4A1_000158 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.441+34delC 441 r.(=) p.(=) - intron 34 Unknown g.110864182del - COL4A1_000158 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.442-48A>G 442 r.(=) p.(=) - intron 48 Unknown g.110864068T>C - COL4A1_000157 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.468+15_468+19del 468 r.(=) p.(=) - intron 15 Paternal (inferred) g.110863975_110863979del - COL4A1_000156 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.468+15_468+19del 468 r.(=) p.(=) - intron 15 Paternal (inferred) g.110863975_110863979del - COL4A1_000156 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.468+15_468+19del 468 r.(=) p.(=) - intron 15 Both (homozygous) g.110863975_110863979del - COL4A1_000156 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.468+15_468+19del 468 r.(=) p.(=) - intron 15 Unknown g.110863975_110863979del - COL4A1_000156 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.468+15_468+19del 468 r.(=) p.(=) - intron 15 Unknown g.110863975_110863979del - COL4A1_000156 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.615+24C>T 615 r.(=) p.(=) - intron 24 Unknown g.110862303G>A - COL4A1_000155 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-31T>C 616 r.(=) p.(=) - intron 31 Unknown g.110861805A>G - COL4A1_000154 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Unknown g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Unknown g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Unknown g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Unknown g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Unknown g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.616-11G>C 616 r.(=) p.(=) - intron 11 Both (homozygous) g.110861785C>G - COL4A1_000050 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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