Table 1 SMA, α-/β-thalassemia, 21-OHD, and FXS carriers identified by LRS and NGS panels from the 2926 participants

SMA

SMN1

Deletion

51

51

54

51

c.22dupA

1

0

c.274-1G > A

1

0

c.689C > T

1

0

α-thalassemia

HBA1, HBA2

HBA2:c.342delC (α⁺)

1

1

63

63

HBA2:c.369C > G (α⁺)

1

1

HBA2:c.427 T > C (α⁺)

1

1

^--SEA (α⁰)

15

15

--^THAI (α⁰)

1

1

-α^27.6 (α⁺)

1

1

-α^3.7 (α⁺)

37

37

-α^4.2 (α⁺)

6

6

False positive -α^3.7a

0

10^b

0

10^b

ααα^anti3.7

29

0

50

0

ααα^anti4.2

20

0

αααα^anti4.2

1

0

β-thalassemia

HBB

c.−78A > G

2

2

19

19

c.17_18delCT

1

1

c.52A > T

2

2

c.79G > A

2

2

c.92 + 5G > C

1

1

c.126_129delCTTT

5

5

c.316-197C > T

6

6

21-OHD

CYP21A2

30 kb deletion: CYP21A1P/A2-CH-1

5

NA

47

NA

30 kb deletion: CYP21A1P/A2-CH-2

1

30 kb deletion: CYP21A1P/A2-CH-3

3

30 kb deletion: CYP21A1P/A2-CH-4

1

30 kb deletion: CYP21A1P/A2-CH-8

1

30 kb deletion: CYP21A1P/A2-CH-9

1

30 kb deletion: TNXA/TNXB-CH-1

2

c.124C > T

1

c.293-13C/A > G

13

c.518T > A

6

c.923dupT

1

c.955C > T

2

c.1069C > T

2

c.1306C > T

2

c.1451_1452delinsC

2

E6_cluster, c.923dupT

1

c.923dupT, c.955C > T, c.1069C > T

1

c.955C > T, c.1069C > T

2

FXS

FMR1

CGG 23 / 59 repeats

1

NA

3

NA

CGG 36 / 79 repeats

1

CGG 29 / 140 / 168 repeats

1

Total

236

133 + 10^b