HLA-A
|
6p22.1
|
Leukemiaa
|
SVA_F1 (2 kb)
|
~14 kb
|
[76]
|
ABCD1
|
Xq28
|
Adrenoleukodystrophy
|
AluYb9 (98 bp)
|
4,726 bp
|
[77]
|
SERPINC1
|
1q25.1
|
Antithrombin deficiency type 1
|
Alu (6 bp)b
|
1,444 bp
|
[78]
|
LPL
|
8p21.3
|
Lipoprotein lipase deficiency
|
AluYb9 (150 bp)
|
2.2 kb
|
[79]
|
CHD7
|
8q12.2
|
CHARGE syndrome
|
AluYa5/8 (75 bp)
|
10 kb
|
[80]
|
PMM2
|
16p13.2
|
Congenital disorders of glycosylation type-Ia
|
AluYb8 (263 bp)
|
28 kb
|
[81]
|
APC
|
5q22.2
|
Familial adenomatous polyposis
|
AluYb9 (93 bp)
|
1,599 bp
|
[82]
|
EYA1
|
8q13.3
|
Branchio-oto-renal syndrome
|
L1 Hs (3,756 bp)
|
17 kb
|
[83]
|
PDHX
|
11p13
|
Pyruvate dehydrogenase complex deficiency
|
L1 Hs (6,086 bp)
|
46 kb
|
[84]
|
BRCA1
|
17q21.31
|
Hereditary breast/ovarian cancer
|
AluY (~190 bp)
|
23,363 bp
|
[85]
|