Table 2 Novel rare variants recurring in more than one cases.

From: Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients

Gene names

Chr:Pos

Nucleotide position

Effect on protein

Number of carriers

Phenotype of the carriers

Rare novel variants recurring in more than one cases

ACE

17:61,561,237

NM_000789.4:c.1614C > T

NP_000780.1:p.Phe538 =

2

1, 3

ADAMTSL4

1:150,529,195

NM_019032.6:c.1675C > A

NP_061905.2:p.Arg559Ser

2

0, 1

ADIPOR1

1:202,915,630

NM_015999.6:c.367G > A

NP_057083.2:p.Ala123Thr

2

3, 3

AGBL2

11:47,703,611

NM_024783.4:c.1825 T > G

NP_079059.2:p.Cys609Gly

2

2, 3

ANGPT1

8:108,276,554

NM_001146.5:c.1231A > T

NP_001137.2:p.Thr411Ser

2

3, 1

ANKRD11

16:89,346,802

NM_013275.6:c.6148A > G

NP_037407.4:p.Thr2050Ala

2

2, 4

C5

9:123,837,071

NM_001317163.2:c.44C > A

NP_001304092.1:p.Pro15Gln

2

1, 1

CC2D2A

4:15,482,381

NM_001080522.2:c.181delC

NP_001073991.2:p.Gln61Argfs*13

2

1, 2

CCPG1, DNAAF4-CCPG1

15:55,664,195

NM_001204450.2:c.502A > G, NR_037923.1:n.1919A > G

NP_001191379.1:p.Ser168Gly

2

3, 3

CDAN1

15:43,018,579

NM_138477.4:c.3133G > C

NP_612486.2:p.Asp1045His

2

1, 3

CFAP65

2:219,885,975

NM_194302.4:c.3158G > A

NP_919278.2:p.Ser1053Asn

2

3, 3

CFTR

7:117,307,042

NM_000492.4:c.4323C > G

NP_000483.3:p.Ile1441Met

3

1, 1, 3

DCLRE1B

1:114,449,747

NM_022836.4:c.319C > A

NP_073747.1:p.Leu107Ile

3

1, 3, 3

DEF6

6:35,278,407

NM_022047.4:c.409A > G

NP_071330.3:p.Met137Val

2

1, 3

DNAH9

17:11,672,458

NM_001372.4:c.7364G > C

NP_001363.2:p.Ser2455Thr

2

2, 2

ENTREP2, NSMCE3

15:29,561,633

NM_015307.2:c.277-16951G > C, NM_138704.4:c.277G > C

NP_619649.1:p.Val93Leu

2

2, 2

ESPN

1:6,505,825

NM_031475.3:c.1302_1325del

NP_113663.2:p.Ser436_Pro443del

2

3, 3

F13B

1:197,032,161

NM_001994.3:c.91G > T

NP_001985.2:p.Glu31Ter

2

1, 3

FLG

1:152,284,690

NM_002016.2:c.2672G > A

NP_002007.1:p.Ser891Asn

2

1, 2

GAS2L2

17:34,077,177

NM_139285.4:c.546G > T

NP_644814.1:p.Glu182Asp

2

1, 3

HHATL

3:42,739,041

NM_020707.4:c.824G > A

NP_065758.3:p.Ser275Asn

3

2, 2, 3

HIP1

7:75,187,530

NM_005338.7:c.1405A > G

NP_005329.3:p.Ser469Gly

3

3, 3, 3

INO80

15:41,275,066

NM_017553.3:c.4447 T > C

NP_060023.1:p.Ser1483Pro

2

0, 3

IRF2

4:185,311,880

NM_002199.4:c.718C > T

NP_002190.2:p.Pro240Ser

2

1, 3

KANSL1

17:44,116,476

NM_001193466.2:c.2309G > T

NP_001180395.1:p.Arg770Leu

2

3, 3

SOGA3

6:127,767,931

NM_014702.5:c.1533 T > A

NP_055517.3:p.Asn511Lys

3

3, 3, 3

LDLR

19:11,217,326

NM_000527.5:c.780C > T

NP_000518.1:p.Asp260 = 

2

3, 3

LRP4

11:46,917,857

NM_002334.4:c.952C > G

NP_002325.2:p.Leu318Val

2

1, 2

MASP2

1:11,094,962

NM_006610.4:c.1010G > C

NP_006601.2:p.Gly337Ala

2

2, 2

MCM4

8:48,877,224

NM_005914.4:c.784C > T

NP_005905.2:p.Pro262Ser

2

3, 3

MUC5B

11:1,271,906

NM_002458.3:c.13796C > A

NP_002449.2:p.Thr4599Lys

2

2, 2

NACAD

7:45,122,138

NM_001146334.2:c.3641A > C

NP_001139806.1:p.Lys1214Thr

2

0, 3

NLRC4

2:32,463,358

NM_021209.4:c.2364A > T

NP_067032.3:p.Lys788Asn

2

1, 1

ODAD2

10:28,283,873

NM_018076.5:c.199G > A

NP_060546.2:p.Ala67Thr

2

3, 3

PDE4A

19:10,577,953

NM_001111307.2:c.2317G > C

NP_001104777.1:p.Glu773Gln

2

1, 1

PRDM16

1:3,103,020

NM_022114.4:c.369G > C

NP_071397.3:p.Glu123Asp

2

3, 3

RANBP2

2:109,392,290

NM_006267.5:c.8395A > G

NP_006258.3:p.Ile2799Val

3

0, 2, 3

SLC47A1

17:19,437,356

NM_018242.3:c.104 T > A

NP_060712.2:p.Leu35Gln

2

1, 2

SLC4A2

7:150,767,275

NM_003040.4:c.1291A > G

NP_003031.3:p.Ser431Gly

2

3, 3

SMARCA4

19:11,144,456

NM_001128849.3:c.3788G > T

NP_001122321.1:p.Ser1263Ile

2

0, 3

SRC

20:36,028,639

NM_005417.5:c.981G > A

NP_005408.1:p.Gln327 = 

3

1, 1, 3

STAT2

12:56,742,747

NM_005419.4:c.1537A > G

NP_005410.1:p.Asn513Asp

3

3, 3, 3

TCN2

22:31,013,400

NM_000355.4:c.1024C > G

NP_000346.2:p.Pro342Ala

2

2, 3

TLR4

9:120,476,855

NM_138554.5:c.2449G > A

NP_612564.1:p.Asp817Asn

2

2, 2

TOP2B

3:25,670,534

NM_001330700.2:c.1792A > C

NP_001317629.1:p.Ile598Leu

2

0, 3

VPS45

1:150,082,729

NM_007259.5:c.1612C > T

NP_009190.2:p.His538Tyr

2

1, 1

CENPF

1:214,811,208

NM_016343.4:c.1447-1G > T

–

2

1, 1

Different substitutions involving the same amino acid residue in two additional cases

PKD1L3

16:72,033,750

NM_181536.2:c.128G > C

NP_853514.1:p.Ser43Thr

1

2

PKD1L3

16:72,033,750

NM_181536.2:c.128G > T

NP_853514.1:p.Ser43Ile

1

1

  1. Bold: different substitutions involving the same amino acid residue in two additional cases; Phenotype of the carriers: 0—critical, 1—severe, 2—moderate, 3—mild, 4—asymptomatic.
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