Locus | Proband genotype | Annotation | Gene | Map location | Gene description |
---|---|---|---|---|---|
chr10:103347017 | C/T | missense | POLL | 10q23 | polymerase (DNA) lambda |
chr10:104231069 | G/A | silent | TMEM180 | 10q24.32 | major facilitator superfamily domain containing 13A |
chr10:105184868 | G/A | missense | PDCD11 | 10q24.33 | programmed cell death 11 |
chr10:114154676 | G/A | missense | ACSL5 | 10q25.2 | acyl-CoA synthetase long-chain family member 5 |
chr10:116595383 | G/A | missense | FAM160B1 | 10q25.3 | family with sequence similarity 160 member B1 |
chr10:124593258 | A/T | nonsense | CUZD1 | 10q26.13 | CUB and zona pellucida like domains 1 |
chr10:129909975 | G/A | nonsense | MKI67 | 10q26.2 | marker of proliferation Ki-67 |
chr10:294362..294366 | TCAGA/T | frameshift | ZMYND11 | 10p14 | zinc finger MYND-type containing 11 |
chr10:30318177 | C/T | silent | KIAA1462 | 10p11.23 | KIAA1462 |
chr10:31815671 | C/T | nonsense | ZEB1 | 10p11.2 | zinc finger E-box binding homeobox 1 |
Locus | Proband genotype | Annotation | Gene | Map location | Gene description |
Gene | Entrez Id | Map location | Gene description | type |
---|---|---|---|---|
AAK1 | 22848 | 2p14 | AP2 associated kinase 1 | protein-coding |
AARS | 16 | 16q22 | alanyl-tRNA synthetase | protein-coding |
AATK | 9625 | 17q25.3 | apoptosis-associated tyrosine kinase | protein-coding |
ABCA2 | 20 | 9q34 | ATP binding cassette subfamily A member 2 | protein-coding |
ABCA3 | 21 | 16p13.3 | ATP binding cassette subfamily A member 3 | protein-coding |
ABCD3 | 5825 | 1p21.3 | ATP binding cassette subfamily D member 3 | protein-coding |
ABCG1 | 9619 | 21q22.3 | ATP binding cassette subfamily G member 1 | protein-coding |
ABCG4 | 64137 | 11q23.3 | ATP binding cassette subfamily G member 4 | protein-coding |
ABHD12 | 26090 | 20p11.21 | abhydrolase domain containing 12 | protein-coding |
ABI1 | 10006 | 10p11.2 | abl interactor 1 | protein-coding |
Gene | Entrez Id | Map location | Gene description | type |
Gene | Entrez Id | Map location | Gene description | type |
---|---|---|---|---|
ABHD12 | 26090 | 20p11.21 | abhydrolase domain containing 12 | protein-coding |
ACCSL | 390110 | 11p11.2 | 1-aminocyclopropane-1-carboxylate synthase (inactive)-like | protein-coding |
ACO1 | 48 | 9p21.1 | aconitase 1 | protein-coding |
ACSL4 | 2182 | Xq22.3-q23 | acyl-CoA synthetase long-chain family member 4 | protein-coding |
ACSL5 | 51703 | 10q25.2 | acyl-CoA synthetase long-chain family member 5 | protein-coding |
ACTA2 | 59 | 10q23.3 | actin, alpha 2, smooth muscle, aorta | protein-coding |
ACTL7B | 10880 | 9q31 | actin like 7B | protein-coding |
ACTN1 | 87 | 14q24|14q22-q24 | actinin alpha 1 | protein-coding |
ADAMTS1 | 9510 | 21q21.2 | ADAM metallopeptidase with thrombospondin type 1 motif 1 | protein-coding |
ADAMTS10 | 81794 | 19p13.2 | ADAM metallopeptidase with thrombospondin type 1 motif 10 | protein-coding |
Gene | Entrez Id | Map location | Gene description | type |
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