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Table 1 Genomic regions targeted for PSP genes

From: A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Disease Gene name Chromosome location Capture region Size (bp) Exon Transcript
Birt–Hogg–Dube syndrome FLCN chr17:17115527–17145502 Whole gene 29976 14 NM_144997
Lymphangioleiomyomatosis TSC1 chr9:135766735–135822020 Whole gene 55286 23 NM_000368
TSC2 chr16:2095990–2138713 Whole gene 42724 42 NM_000548
Homocystinuria CBS chr21:44473301–44497053 Whole gene 23853 17 NM_000071
Ehlers-Danlos syndrome COL3A1 chr2:189839046–189877472 Whole gene 38527 51 NM_000090
Marfan syndrome FBN1 chr15:48700503–48938046 Exons 18559 66 NM_000138
α1- Antitrypsin deficiency SERPINA1 chr14:94843084–94857030 Exons 4863 7 NM_001002236
    Capture size 213788 220