Table 2.
All INF2 exonic variants found in our two cohorts of patients including allele frequencies from ExAC Browser and gnomAD Browser
| 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 |
Pathogenic mutations are showed in bold. Allele frequency was counted for the current study
Af Allele frequency
NF Not found in browser