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Table 2 All INF2 exonic variants found in our two cohorts of patients including allele frequencies from ExAC Browser and gnomAD Browser

From: Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic

Exone

cDNA level

Protein level

Allele frequency % (n = 115)

ExAC Browser Af

gnomAD Browser Af

Reference or rs number

2

c.42 G > A

p.Leu14Leu

0.9

0.03997

0.01817

rs62638758

2

c.105 C > T

p.Pro35Pro

97.4

0.9783

0.9783

rs4983530

4

c.579 C > T

p.Tyr193Tyr

0.4

  

Novel

4

c.641 G > A

p.Arg214His

0.4

NF

NF

[5]

4

c.653 G > A

p.Arg218Gln

0.9

NF

NF

[5]

7

c.879G > A

p.Ser293Ser

0.9

0.007779

0.007394

rs184709736

7

c.885G > A

p.Leu295Leu

0.4

0.00009769

0.00009.272

rs370680236

8

c.1472C > T

p.Pro491Leu

0.4

  

Novel

8

c.1499C > T

p.Pro500Leu

0.4

0.0009303

0.0003025

rs561201601

8

c.1582C > T

p.Pro528Ser

0.9

0.007560

0.005266

rs181694819

18

c.2640 T > C

p.Asp880Asp

60.0

0.8608

0.8619

rs10133301

21

c.3066 T > C

p.Asp1022Asp

68.3

0.8060

0.7871

rs4983535

21

c.3108 T > C

p.Leu1036Leu

0.4

0.007002

0.004700

rs186075307

21

c.3163C > T

p.Pro1055Ser

0.4

  

Novel

21

c.3169C > T

p.Pro1057Ser

2.2

  

Novel

21

c.3170C > T

p.Pro1057Leu

1.3

  

Novel

21

c.3177C > T

p.Pro1059Pro

0.9

  

Novel

21

c.3179C > T

p.Thr1060Ile

3.5

  

Novel

21

c.3180C > T

p.Thr1060Thr

1.7

  

Novel

21

c.3181C > A

p.Leu1061Met

0.9

  

Novel

21

c.3181C > T

p.Leu1061Leu

1.3

  

Novel

21

c.3207A > C

p.Pro1069Pro

40.4

0.6103

0.6053

rs1128840

21

c.3207A > G

p.Pro1069Pro

40.9

0.2469

0.2524

rs1128840

21

c.3286C > T

p.Pro1096Ser

7.8

0.07527

0.06494

rs34251364

  1. Pathogenic mutations are showed in bold. Allele frequency was counted for the current study
  2. Af Allele frequency
  3. NF Not found in browser
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BMC Medical Genetics

ISSN: 1471-2350

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