Table 1. Gene mutations in patients 1... | Rockefeller University Press

Table 1.

Gene mutations in patients

1

CYBA c.70G>A (p.Gly24Arg)

2

IKZF1. p.Arg162Trp

3

INO80. p.Arg1281Gln

4

INO80. p.Leu205Arg

5

INO80. p.Val1108Gly

6

IRF2BP2. p.Pro118Ser

7

IRF2BP2. p.Pro127Ser

8

LPIN2. p.Asn833*

9

NFKB1. essential splicing

10

NFKB1. essential splicing

11

NFKB1. p.Leu615Phe

12

NFKB1. p.Gln199*

13

NFKB1. p.Phe459fs

14

NFKB2. p.His98Asn; TNFRSF13B p.Cys104Arg

15

PI3KCD Glu1021Lys

16

PIK3R1. start_gained

17

PMM2. p.Arg141His

18

SPI1. p.Gly156Arg

19

STAT3. p.Arg246Gln

20

STAT3. p.V353F

21

STXBP2. p.Gly541Ser

22

STXBP2. p.Pro345Leu

23

TACI p. Cys172Phe

24

TACI. p.Leu171Arg

25

TNFRSF13B p.Leu69fs

26

TNFRSF13B p.Ile87Asn

27

TNFRSF13B p.Cys104Arg

28

TNFRSF13B p.Cys104Arg homozygous

29

TNFRSF13B p.Ala181Glu

30

TNFRSF13B p.Arg202Cys

31

TNFRSF13B p.Cys104Arg

32

TNFRSF13B p.Lys188del