Full data view for gene EYA1

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

138 entries on 2 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.58C>G 58 r.(?) p.(Pro20Ala) - missense - Unknown g.72267083G>C - EYA1_000070 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.58C>G 58 r.(?) p.(Pro20Ala) - missense - Unknown g.72267083G>C - EYA1_000070 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.58C>G 58 r.(?) p.(Pro20Ala) - missense - Unknown g.72267083G>C - EYA1_000070 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.58C>G 58 r.(?) p.(Pro20Ala) - missense - Unknown g.72267083G>C - EYA1_000070 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.125-31C>T 125 r.(=) p.(=) - intron 31 Unknown g.72246440G>A - EYA1_000069 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.418+47G>A 418 r.(=) p.(=) - intron 47 Paternal (inferred) g.72233922C>T - EYA1_000068 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.418+47G>A 418 r.(=) p.(=) - intron 47 Unknown g.72233922C>T - EYA1_000068 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.418+47G>A 418 r.(=) p.(=) - intron 47 Unknown g.72233922C>T - EYA1_000068 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Paternal (inferred) g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Unknown g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Unknown g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Unknown g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Unknown g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.556+18G>T 556 r.(=) p.(=) - intron 18 Unknown g.72229769C>A - EYA1_000067 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Both (homozygous) g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.639+39T>G 639 r.(=) p.(=) - intron 39 Unknown g.72211834A>C - EYA1_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.671G>T 671 r.(?) p.(Gly224Val) - missense - Maternal (inferred) g.72211437C>A - EYA1_000066 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.671G>T 671 r.(?) p.(Gly224Val) - missense - Maternal (inferred) g.72211437C>A - EYA1_000066 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.671G>T 671 r.(?) p.(Gly224Val) - missense - Unknown g.72211437C>A - EYA1_000066 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Maternal (inferred) g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Maternal (inferred) g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.813A>G 813 r.(?) p.(=) - coding-synonymous - Unknown g.72211295T>C - EYA1_000065 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1050+28A>C 1050 r.(=) p.(=) - intron 28 Unknown g.72181947T>G - EYA1_000064 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Paternal (inferred) g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1278C>T 1278 r.(?) p.(=) - coding-synonymous - Unknown g.72129009G>A - EYA1_000063 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Paternal (inferred) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Both (homozygous) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Both (homozygous) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Both (homozygous) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Both (homozygous) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Unknown g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1476-21G>T 1476 r.(=) p.(=) - intron 21 Both (homozygous) g.72127764C>A - EYA1_000062 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1597+18T>C 1597 r.(=) p.(=) - intron 18 Unknown g.72127604A>G - EYA1_000061 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Maternal (inferred) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Maternal (inferred) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Unknown g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Both (homozygous) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Both (homozygous) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Unknown g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Both (homozygous) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1699-23A>G 1699 r.(=) p.(=) - intron 23 Both (homozygous) g.72111678T>C - EYA1_000060 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
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