Table 2 KLF1 haplotypes in samples carrying novel KLF1 mutations

1

c.3G > A

c.3G > A; c.304T > C

KLF1*BGM12

Clone sequencing

2

c.70_71delCA

c.70_71delCA

KLF1*01

Clone sequencing

3

c.87 + 12_87 + 25delAAGGTGGGGTCTAG

c.87 + 12_87 + 25delAAGGTGGGGTCTAG; c.304T > C

KLF1*BGM12

Clone sequencing

4

c.207_217delGGACGCCACCT

c.207_217delGGACGCCACCT; c.304T > C

c.325 C > T

Clone sequencing

5

c.406delG

c.304T > C; c.406delG

KLF1*BGM12

Clone sequencing

6

c.406delG

c.304T > C; c.406delG

KLF1*BGM12

Clone sequencing

7

c.417_421delCCTGC

c.417_421delCCTGC

KLF1*01

Clone sequencing

8

c.839delC

c.304T > C; c.839delC

KLF1*BGM12

Clone sequencing

9

c.880_881insACACCAAGAGCT

c.304T > C; c.880_881insACACCAAGAGCT

KLF1*BGM12

Clone sequencing

10

c.880T > G

c.304T > C; c.880T > G

KLF1*01

Clone sequencing

11

c.895 C > G

c.304T > C; c.895 C > G

KLF1*01

Clone sequencing

12

c.916G > A

c.304T > C; c.916G > A

KLF1*BGM12

Clone sequencing

13

c.916G > A

c.916G > A

KLF1*01

Clone sequencing

14

c.953G > A

c.953G > A

KLF1*BGM12

HiFi sequencing

15

c.982delC

c.304T > C; c.980delC

KLF1*01

HiFi sequencing

16

c.982delC

c.304T > C; c.980delC

KLF1*BGM12

Clone sequencing

17

c.982 C > T

c.982 C > T

KLF1*01

Clone sequencing

18

c.1010G > A

c.1010G > A

c.304T > C; c.544T > C

HiFi sequencing

19

c.1010G > T; 1011 C > T

c.304T > C; c.1010G > T; 1011 C > T

KLF1*BGM12

Clone sequencing

20

c.1012 C > A

c.325 C > T; c.1012 C > A

KLF1*BGM12

HiFi sequencing

21

c.1012 C > A

c.325 C > T; c.1012 C > A

KLF1*01

HiFi sequencing

22

c.1013 C > T

c.1013 C > T

KLF1*BGM12

HiFi sequencing

23

c.1049G > A

c.304T > C; c.1049G > A

KLF1*BGM12

Clone sequencing

24

c.1058 A > G

c.304T > C; c.1058 A > G

KLF1*01

HiFi sequencing

25

c.1063G > C

c.304T > C; c.1063G > C

KLF1*01

HiFi sequencing