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Table 2 Genetic variants

From: Fulminant H1N1 and severe acute respiratory syndrome coronavirus-2 infections with a 4-year interval without an identifiable underlying cause: a case report

Gene

Transcript

Transcript variant

Protein variant

SIFT prediction

PolyPhen-2 prediction

CADD

MSC-CADD

GDI

GDI prediction

dbSNP ID

gnomAD frequency

STAT1

NM_007315.4

c.1371G>A

p.V457V

NA

NA

15.03

7.736

0.73972

Medium

144704615

0.028

PSMD2

NM_001278709.2

c.679G>A

p.G227S

Tolerated

Probably damaging

26

6.072

4.97534

Medium

NA

0.000

CFI

NM_000204.5

c.1019T>C

p.1340T

Damaging

Possibly damaging

22.3

0.001

2.21508

Medium

769419740

0.007

PCDH18

NM_019035.5

c.3154G>A

p.G1052R

Damaging

Possibly damaging

23.7

3.313

2.92063

Medium

148983038

0.002

SNX9

NM_016224.5

c.199C>G

p.Q67E

Tolerated

Benign

16.55

3.313

2.29269

Medium

749203434

0.002

DOCKS

NM_001190458.2

c.499C>G

p.Q167E

Tolerated

Benign

18.27

0.001

18.28926

High

1233535978

0.000

GAS6

NM_000820.4

c,451C>T

p.R151W

Damaging

Probably damaging

32

3.313

3.51157

Medium

202152067

0.004

FANCI

NM_018193.3

c.2017C>T

p.H673Y

Damaging

Probably damaging

25.2

0.001

17.44782

High

763866498

0.003

P2RX5

NM_175080.3

c.88G>T

p.G30C

Damaging

Probably damaging

28

3.313

2.65609

Medium

NA

0.000

SBNO2

NM_001100122.2

c.1195G>A

p.E399K

Tolerated

Probably damaging

25.2

3.313

5.7817

Medium

1432406684

0.000

SLC44A2

NM_001145056.2

c.2027A>T

p.N6761

Damaging

Probably damaging

26.9

3.313

2.4366

Medium

768714484

0.004

  1. Genetic variants were identified in the patient using the following criteria: CADD score > 15 and GnomAD frequency < 0.1%. Overview of gene name, transcript variant, protein variant, SIFT function prediction, PolyPhen-2, variant ID, gnomAD frequency, CADD score, MSC, GDI score, GDI prediction, and inferred activity
  2. CADD combined annotation dependent depletion, MSC mutation significance cut-off, SIFT sorting intolerant from tolerant, MSC mutation significance cut-off, gnomAD genome aggregation database, GDI gene damage index