Table 2 Variations of the HLH related genes and the references [34]

PRF1

EXON3

Synonymous

c.900C > T p.His300His

rs885822

0.3041

UNC13D

EEXON1

Intron

c.117 + 59C > T

rs3744010

0.2847

EXON4

Synonymous

c.279C > T p.Pro93Pro

rs3744007

0.1000

EXON5

Intron

c.388 + 122C > T

rs3744006

0.4930

EXON11

Synonymous

c.888G > C p.Pro296Pro

rs7223416

0.4902

EXON18

Intron

c.1596 + 36A > G

rs3744026

0.3083

EEXON19

Intron

c.1728-48 T > C

rs3744024

0.3025

EXON21

Synonymous

c.1977C > T p.Thr659Thr

rs2290770

0.0799

EXON24

Intron

c.2299-46C > T

rs7212635

0.2542

EXON28

Intron

c.2709 + 48C > T

rs2290768

0.2530

EEXON32

Synonymous

c.3198A > G.Glu1066Glu

rs7210574

0.4738

STX11

STXBP2

Exon2

Intron

c.38-7C > T

rs113939878

NA

acceptor

Exon10

Synonymous

c.816 C > T p.Ser272Ser

rs78010345

0.0034

EXON15

Intron

c.1247-43 T > C

rs929807

0.4730

EXON15

Intron

c.1356 + 18A > G

rs889187

0.4836

Exon16

Synonymous

c.1443 T > C .Asp481Asp

rs10001

0.4958

Exon18

Intron

c.1696 + 28G > C

rs34976997

0.3157

Exon18

Intron

c.1696 + 77G > A

rs794074

0.4615

Exon19

Intron

c.1697-26 T > G

rs794073

0.465

XIAP

Exon5

Intron

c.1099 + 264G > C

rs28382732

0.2638

Exon7a

3' UTR

c.*12A > G

rs28382740

0.2673

SH2D1A