Table 5.

Top 15 genes by gene carrier rate (GCR) in 2,836 Han Chinese individuals without a family history

Genes	GCR (%)	1 in _
SLC25A13	3.87	26
GJB2	3.66	28
GALC	2.74	37
USH2A	2.65	38
ATP7B	2.30	44
HBA1/HBA2	2.20	46
SLC26A4	2.14	47
PAH	1.92	53
SMN1	1.54	65
SLC22A5	1.41	71
CYP1B1	1.20	84
TYR	1.19	84
PMM2	1.16	87
PKHD1	1.12	90
GAA	1.09	92

SLC25A13(OMIM: 603859, reference sequence: NM_014251.2), GJB2(OMIM: 121011, reference sequence: NM_004004.5), GALC(OMIM: 606890, reference sequence: NM_000153.3), USH2A(OMIM: 608400, reference sequence: NM_206933.2), ATP7B(OMIM: 606882, reference sequence: NM_000053.3), HBA1(OMIM: 141800, reference sequence: NM_000558.4), HBA2(OMIM: 141850, reference sequence: NM_000517.4), SLC26A4(OMIM: 605646, reference sequence: NM_000441.1), PAH(OMIM: 612349, reference sequence: NM_000277.1), SMN1(OMIM: 600354, reference sequence: NM_000344.3), SLC22A5(OMIM: 603377, reference sequence: NM_003060.3), CYP1B1(OMIM: 601771, reference sequence: NM_000104.3), TYR(OMIM: 606933, reference sequence: NM_000372.4), PMM2(OMIM: 601785, reference sequence: NM_000303.2), PKHD1(OMIM: 606702, reference sequence: NM_138694.3), GAA(OMIM: 606800, reference sequence: NM_000152.3).