Full data view for gene ABCA10

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

343 entries on 4 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.-71G>A -71 r.(=) p.(=) - utr-5 - Paternal (inferred) g.67221570C>T - ABCA10_000048 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-71G>A -71 r.(=) p.(=) - utr-5 - Unknown g.67221570C>T - ABCA10_000048 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-71G>A -71 r.(=) p.(=) - utr-5 - Unknown g.67221570C>T - ABCA10_000048 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-71G>A -71 r.(=) p.(=) - utr-5 - Unknown g.67221570C>T - ABCA10_000048 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.34+28G>T 34 r.(=) p.(=) - intron 28 Unknown g.67221438C>A - ABCA10_000047 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.253C>G 253 r.(?) p.(Leu85Val) - missense - Unknown g.67217983G>C - ABCA10_000046 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Paternal (inferred) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Paternal (inferred) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Unknown g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.504G>A 504 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67215712C>T - ABCA10_000045 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Unknown g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.607C>T 607 r.(?) p.(Pro203Ser) - missense - Both (homozygous) g.67212423G>A - ABCA10_000044 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Paternal (inferred) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Paternal (inferred) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.783T>C 783 r.(?) p.(=) - coding-synonymous - Unknown g.67212031A>G - ABCA10_000043 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Both (homozygous) g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Both (homozygous) g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.859A>G 859 r.(?) p.(Ile287Val) - missense-near-splice - Unknown g.67210992T>C - ABCA10_000042 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.868C>G 868 r.(?) p.(Leu290Val) - missense - Unknown g.67210983G>C - ABCA10_000041 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1007-45T>C 1007 r.(=) p.(=) - intron 45 Unknown g.67197854A>G - ABCA10_000040 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1007-45T>C 1007 r.(=) p.(=) - intron 45 Unknown g.67197854A>G - ABCA10_000040 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1115A>C 1115 r.(?) p.(His372Pro) - missense - Unknown g.67197701T>G - ABCA10_000039 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1115A>C 1115 r.(?) p.(His372Pro) - missense - Unknown g.67197701T>G - ABCA10_000039 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1175+23A>G 1175 r.(=) p.(=) - intron 23 Unknown g.67197618T>C - ABCA10_000038 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1175+23A>G 1175 r.(=) p.(=) - intron 23 Unknown g.67197618T>C - ABCA10_000038 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1234+37T>C 1234 r.(=) p.(=) - intron 37 Unknown g.67193168A>G - ABCA10_000037 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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