Structural position:
- Domain Type: Fn3
- Aligned Position: 22
- Secondary Structure Element: e
- Secondary Structure Region: β-strand B
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | 16074 |
Fn3-4 |
20 | rs1285719180 |
0.448 | -1.656 | 1.0 | D | 0.719 | 0.487 | 0.6071297 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| L/F | 16074 |
Fn3-4 |
20 | rs1285719180 |
0.448 | -1.656 | 1.0 | D | 0.719 | 0.487 | 0.6071297 | gnomAD-4.0.0 | 6.84733E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73853E-04 | 0 | 0 | 0 |
| L/P | 16370 |
Fn3-6 |
20 | None | 0.9976 | None | 1.0 | D | 0.922 | 0.713 | 0.884905 | gnomAD-4.0.0 | 1.59322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78505E-05 | None | 0 | 0 | 0 | 0 | 0 |
| L/H | 16469 |
Fn3-7 |
20 | rs72677245 |
0.998 | -3.29 | 1.0 | D | 0.902 | 0.665 | None | gnomAD-2.1.1 | 3.13247E-04 | None | None | None | None | N | None | 0 | 2.49027E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/H | 16469 |
Fn3-7 |
20 | rs72677245 |
0.998 | -3.29 | 1.0 | D | 0.902 | 0.665 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 5.90319E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/H | 16469 |
Fn3-7 |
20 | rs72677245 |
0.998 | -3.29 | 1.0 | D | 0.902 | 0.665 | None | gnomAD-4.0.0 | 1.33659E-04 | None | None | None | None | N | None | 0 | 1.75463E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85225E-05 |
| L/P | 16469 |
Fn3-7 |
20 | None | 0.999 | None | 1.0 | D | 0.936 | 0.753 | 0.87495434 | gnomAD-4.0.0 | 1.59711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86697E-06 | 0 | 0 |
| L/F | 16570 |
Fn3-8 |
20 | rs1345231824 |
0.7027 | -2.068 | 1.0 | D | 0.745 | 0.478 | 0.54312074 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | 16570 |
Fn3-8 |
20 | rs1345231824 |
0.7027 | -2.068 | 1.0 | D | 0.745 | 0.478 | 0.54312074 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | 16570 |
Fn3-8 |
20 | rs1345231824 |
0.7027 | -2.068 | 1.0 | D | 0.745 | 0.478 | 0.54312074 | gnomAD-4.0.0 | 6.57981E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | 16670 |
Fn3-9 |
20 | None | 0.2221 | None | 0.999 | N | 0.556 | 0.312 | 0.30733225 | gnomAD-4.0.0 | 1.59526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4339E-05 | 0 |
| I/V | 16871 |
Fn3-11 |
20 | rs763229497 |
0.1027 | -1.228 | 0.333 | N | 0.165 | 0.125 | 0.37407655 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | 16871 |
Fn3-11 |
20 | rs763229497 |
0.1027 | -1.228 | 0.333 | N | 0.165 | 0.125 | 0.37407655 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| L/S | 17066 |
Fn3-12 |
20 | None | 0.9954 | None | 0.984 | D | 0.815 | 0.646 | 0.8287608 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| I/V | 17166 |
Fn3-13 |
20 | None | 0.1098 | None | 0.018 | N | 0.355 | 0.086 | 0.43710056 | gnomAD-4.0.0 | 1.59299E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | 17388 |
Fn3-14 |
20 | None | 0.9641 | None | 1.0 | N | 0.791 | 0.517 | 0.6288842 | gnomAD-4.0.0 | 1.59485E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90505E-05 | 0 | 0 | 0 | 0 |
| V/A | 17489 |
Fn3-15 |
20 | rs1337777235 |
0.9018 | None | 0.999 | N | 0.631 | 0.483 | 0.64928013 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 17489 |
Fn3-15 |
20 | rs1337777235 |
0.9018 | None | 0.999 | N | 0.631 | 0.483 | 0.64928013 | gnomAD-4.0.0 | 6.57938E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | 17489 |
Fn3-15 |
20 | rs1337777235 |
0.9511 | None | 1.0 | N | 0.875 | 0.592 | 0.90553576 | gnomAD-4.0.0 | 1.60143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87426E-06 | 0 | 0 |
| V/M | 17489 |
Fn3-15 |
20 | rs1474043001 |
0.7815 | None | 1.0 | N | 0.723 | 0.295 | 0.48706454 | gnomAD-4.0.0 | 1.37218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01058E-07 | 0 | 1.66135E-05 |
| L/P | 17783 |
Fn3-17 |
20 | rs777712545 |
0.9976 | -1.89 | 1.0 | D | 0.879 | 0.821 | 0.7797978 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| L/F | 17881 |
Fn3-18 |
20 | rs771801125 |
0.8574 | -1.583 | 0.241 | D | 0.418 | 0.375 | 0.4093986 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| L/F | 17881 |
Fn3-18 |
20 | rs771801125 |
0.8574 | -1.583 | 0.241 | D | 0.418 | 0.375 | 0.4093986 | gnomAD-4.0.0 | 6.85953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16553E-05 | 0 |
| L/V | 17881 |
Fn3-18 |
20 | rs771801125 |
0.2969 | -1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 1.67112E-04 |
| L/V | 17881 |
Fn3-18 |
20 | rs771801125 |
0.2969 | -1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | 17881 |
Fn3-18 |
20 | rs771801125 |
0.2969 | -1.31 | 0.9 | N | 0.647 | 0.246 | 0.33110744 | gnomAD-4.0.0 | 8.07554E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01927E-05 | 0 | 1.60565E-05 |
| L/I | 18291 |
Fn3-21 |
20 | None | 0.1567 | None | 0.999 | N | 0.519 | 0.283 | 0.29667905 | gnomAD-4.0.0 | 1.61793E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.82067E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 18291 |
Fn3-21 |
20 | rs769159180 |
0.9932 | None | 1.0 | D | 0.93 | 0.631 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 18291 |
Fn3-21 |
20 | rs769159180 |
0.9932 | None | 1.0 | D | 0.93 | 0.631 | None | gnomAD-4.0.0 | 2.59576E-06 | None | None | None | None | N | None | 1.70085E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.87886E-05 |
| L/R | 18291 |
Fn3-21 |
20 | rs769159180 |
0.9823 | -2.035 | 1.0 | D | 0.9 | 0.567 | 0.78555584 | gnomAD-2.1.1 | 2.55E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.05804E-04 | None | 0 | 0 | 0 |
| L/R | 18291 |
Fn3-21 |
20 | rs769159180 |
0.9823 | -2.035 | 1.0 | D | 0.9 | 0.567 | 0.78555584 | gnomAD-4.0.0 | 8.08303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.32257E-05 | 0 |
| L/V | 18291 |
Fn3-21 |
20 | None | 0.2224 | None | 0.999 | N | 0.543 | 0.3 | 0.29350263 | gnomAD-4.0.0 | 1.61793E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90308E-06 | 0 | 0 |
| L/P | 18804 |
Fn3-24 |
21 | None | 0.9906 | None | 0.968 | D | 0.943 | 0.667 | 0.87773186 | gnomAD-4.0.0 | 1.64312E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.54202E-05 | 0 |
| V/L | 18903 |
Fn3-25 |
20 | None | 0.481 | None | 0.997 | N | 0.639 | 0.319 | 0.43547958 | gnomAD-4.0.0 | 3.20077E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79673E-05 | None | 0 | 0 | 2.87213E-06 | 0 | 0 |
| L/V | 19203 |
Fn3-27 |
21 | rs1170083550 |
0.2128 | -1.285 | 0.999 | N | 0.561 | 0.322 | 0.45292857 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.13E-06 | 0 |
| L/V | 19203 |
Fn3-27 |
21 | rs1170083550 |
0.2128 | -1.285 | 0.999 | N | 0.561 | 0.322 | 0.45292857 | gnomAD-4.0.0 | 1.60188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87208E-06 | 0 | 0 |
| L/F | 19303 |
Fn3-28 |
20 | rs868588764 |
0.7255 | None | 0.997 | D | 0.615 | 0.451 | 0.5896351 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/M | 19303 |
Fn3-28 |
20 | rs1395931081 |
0.3157 | -1.387 | 0.997 | N | 0.615 | 0.393 | 0.5421001 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| L/M | 19303 |
Fn3-28 |
20 | rs1395931081 |
0.3157 | -1.387 | 0.997 | N | 0.615 | 0.393 | 0.5421001 | gnomAD-4.0.0 | 6.84596E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16117E-05 | 0 |
| L/V | 19303 |
Fn3-28 |
20 | None | 0.1298 | None | 0.198 | N | 0.293 | 0.116 | 0.27479166 | gnomAD-4.0.0 | 2.05379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69948E-06 | 0 | 0 |
| V/I | 19598 |
Fn3-30 |
20 | rs1375428423 |
0.0937 | None | 0.198 | N | 0.159 | 0.174 | 0.31531405 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| V/L | 19598 |
Fn3-30 |
20 | rs1375428423 |
0.3498 | None | 0.9 | N | 0.379 | 0.224 | 0.29703102 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/L | 19598 |
Fn3-30 |
20 | rs1375428423 |
0.3498 | None | 0.9 | N | 0.379 | 0.224 | 0.29703102 | gnomAD-4.0.0 | 6.40953E-06 | None | None | None | None | N | None | 0 | 1.69612E-05 | None | 0 | 0 | None | 0 | 0 | 9.57685E-06 | 0 | 0 |
| L/F | 19896 |
Fn3-32 |
20 | rs763331392 |
0.6531 | None | 1.0 | D | 0.742 | 0.513 | 0.73394173 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | 19896 |
Fn3-32 |
20 | rs763331392 |
0.6531 | None | 1.0 | D | 0.742 | 0.513 | 0.73394173 | gnomAD-4.0.0 | 1.86151E-06 | None | None | None | None | N | None | 4.00737E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | 19896 |
Fn3-32 |
20 | rs763331392 |
0.1114 | -0.499 | 0.999 | N | 0.553 | 0.427 | 0.58853114 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.72652E-04 | None | 0 | None | 0 | 0 | 0 |
| L/I | 19896 |
Fn3-32 |
20 | rs763331392 |
0.1114 | -0.499 | 0.999 | N | 0.553 | 0.427 | 0.58853114 | gnomAD-4.0.0 | 3.42562E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.01595E-04 | None | 0 | 0 | 0 | 0 | 1.65909E-05 |
| L/P | 19896 |
Fn3-32 |
20 | None | 0.998 | None | 1.0 | D | 0.923 | 0.797 | 0.8995151 | gnomAD-4.0.0 | 3.42549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50059E-06 | 0 | 0 |
| L/R | 19996 |
Fn3-33 |
20 | rs1553645358 |
0.9947 | None | 1.0 | D | 0.871 | 0.729 | 0.8742922 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/V | 19996 |
Fn3-33 |
20 | rs2050272980 |
0.3723 | None | 0.999 | N | 0.592 | 0.309 | 0.4995359 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | 19996 |
Fn3-33 |
20 | rs2050272980 |
0.3723 | None | 0.999 | N | 0.592 | 0.309 | 0.4995359 | gnomAD-4.0.0 | 3.84589E-06 | None | None | None | None | N | None | 1.69182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78849E-06 | 0 | 0 |
| I/L | 20191 |
Fn3-34 |
21 | rs745806239 |
0.1656 | -1.039 | 0.993 | N | 0.359 | 0.366 | 0.41683385 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23839E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/L | 20191 |
Fn3-34 |
21 | rs745806239 |
0.1656 | -1.039 | 0.993 | N | 0.359 | 0.366 | 0.41683385 | gnomAD-4.0.0 | 6.84385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.00959E-04 | None | 0 | 0 | 0 | 4.63865E-05 | 3.314E-05 |
| V/A | 20290 |
Fn3-35 |
20 | rs550655820 |
0.719 | -2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-2.1.1 | 2.87E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.27E-05 | 0 |
| V/A | 20290 |
Fn3-35 |
20 | rs550655820 |
0.719 | -2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| V/A | 20290 |
Fn3-35 |
20 | rs550655820 |
0.719 | -2.038 | 0.896 | N | 0.665 | 0.356 | None | gnomAD-4.0.0 | 4.16202E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.60908E-05 | 0 | 1.60545E-05 |
| V/M | 20290 |
Fn3-35 |
20 | None | 0.4312 | None | 0.968 | N | 0.657 | 0.343 | 0.3483242 | gnomAD-4.0.0 | 1.60089E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88349E-06 | 0 | 0 |
| L/F | 20390 |
Fn3-36 |
20 | None | 0.7532 | None | 1.0 | N | 0.76 | 0.427 | 0.58317745 | gnomAD-4.0.0 | 6.84727E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99886E-07 | 0 | 0 |
| L/V | 20687 |
Fn3-38 |
20 | rs76587526 |
0.4072 | -2.034 | 0.999 | D | 0.564 | 0.285 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| L/V | 20687 |
Fn3-38 |
20 | rs76587526 |
0.4072 | -2.034 | 0.999 | D | 0.564 | 0.285 | None | gnomAD-4.0.0 | 2.25825E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7887E-05 | 0 | 3.31356E-05 |
| V/I | 20883 |
Fn3-39 |
20 | None | 0.0636 | None | None | N | 0.219 | 0.046 | 0.22030357 | gnomAD-4.0.0 | 6.86056E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| V/L | 20883 |
Fn3-39 |
20 | None | 0.1471 | None | None | N | 0.257 | 0.025 | 0.048227955 | gnomAD-4.0.0 | 6.86056E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99596E-07 | 0 | 0 |
| V/L | 20982 |
Fn3-40 |
20 | None | 0.449 | None | 0.997 | N | 0.691 | 0.352 | 0.4614959 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/P | 21083 |
Fn3-41 |
20 | rs2049444900 |
0.9893 | None | 1.0 | D | 0.926 | 0.711 | 0.88901174 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| L/P | 21083 |
Fn3-41 |
20 | rs2049444900 |
0.9893 | None | 1.0 | D | 0.926 | 0.711 | 0.88901174 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| L/R | 21083 |
Fn3-41 |
20 | None | 0.9759 | None | 1.0 | D | 0.897 | 0.694 | 0.8573796 | gnomAD-4.0.0 | 3.20812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.77611E-06 | 0 | 0 |
| V/I | 21678 |
Fn3-45 |
20 | rs570562262 |
0.0912 | -0.474 | 0.248 | N | 0.223 | 0.16 | 0.41582003 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/I | 21678 |
Fn3-45 |
20 | rs570562262 |
0.0912 | -0.474 | 0.248 | N | 0.223 | 0.16 | 0.41582003 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.83E-05 | None | 0 | 0 | 0 |
| V/I | 21678 |
Fn3-45 |
20 | rs570562262 |
0.0912 | -0.474 | 0.248 | N | 0.223 | 0.16 | 0.41582003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| V/I | 21678 |
Fn3-45 |
20 | rs570562262 |
0.0912 | -0.474 | 0.248 | N | 0.223 | 0.16 | 0.41582003 | gnomAD-4.0.0 | 8.67933E-06 | None | None | None | None | N | None | 1.33369E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.42885E-04 | 0 |
| L/M | 21776 |
Fn3-46 |
20 | None | 0.2932 | None | 1.0 | N | 0.766 | 0.43 | 0.6831726 | gnomAD-4.0.0 | 1.60625E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88224E-06 | 0 | 0 |
| L/F | 21975 |
Fn3-47 |
20 | None | 0.6091 | None | 1.0 | D | 0.725 | 0.462 | 0.66040844 | gnomAD-4.0.0 | 6.84602E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99849E-07 | 0 | 0 |
| L/P | 21975 |
Fn3-47 |
20 | rs766511481 |
0.9956 | -1.974 | 1.0 | D | 0.93 | 0.812 | 0.8997968 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30881E-04 | None | 0 | 0 | 0 |
| L/P | 21975 |
Fn3-47 |
20 | rs766511481 |
0.9956 | -1.974 | 1.0 | D | 0.93 | 0.812 | 0.8997968 | gnomAD-4.0.0 | 1.43765E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32029E-04 | 1.65804E-05 |
| L/V | 21975 |
Fn3-47 |
20 | None | 0.1584 | None | 0.999 | N | 0.557 | 0.298 | 0.4737743 | gnomAD-4.0.0 | 6.84602E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99849E-07 | 0 | 0 |
| V/I | 22074 |
Fn3-48 |
20 | rs1156659564 |
0.1011 | 0.181 | 0.997 | N | 0.563 | 0.21 | 0.51831216 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/I | 22074 |
Fn3-48 |
20 | rs1156659564 |
0.1011 | 0.181 | 0.997 | N | 0.563 | 0.21 | 0.51831216 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | 22074 |
Fn3-48 |
20 | rs1156659564 |
0.1011 | 0.181 | 0.997 | N | 0.563 | 0.21 | 0.51831216 | gnomAD-4.0.0 | 3.72065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0868E-06 | 0 | 0 |
| V/A | 22373 |
Fn3-50 |
20 | rs774568339 |
0.8194 | -1.951 | 0.052 | N | 0.515 | 0.352 | 0.5057018 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/D | 22373 |
Fn3-50 |
20 | rs774568339 |
0.9957 | None | 0.484 | N | 0.793 | 0.605 | 0.7895057 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | 22373 |
Fn3-50 |
20 | rs774568339 |
0.9957 | None | 0.484 | N | 0.793 | 0.605 | 0.7895057 | gnomAD-4.0.0 | 3.71943E-06 | None | None | None | None | N | None | 5.34074E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47813E-07 | 0 | 1.602E-05 |
| I/T | 22470 |
Fn3-51 |
20 | rs746559118 |
0.7377 | -2.56 | 0.549 | N | 0.679 | 0.37 | 0.5052113 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11919E-04 | None | 0 | None | 0 | 0 | 0 |
| I/T | 22470 |
Fn3-51 |
20 | rs746559118 |
0.7377 | -2.56 | 0.549 | N | 0.679 | 0.37 | 0.5052113 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| I/T | 22470 |
Fn3-51 |
20 | rs746559118 |
0.7377 | -2.56 | 0.549 | N | 0.679 | 0.37 | 0.5052113 | gnomAD-4.0.0 | 4.33923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46728E-05 | None | 0 | 0 | 3.39128E-06 | 1.09798E-05 | 0 |
| L/F | 22663 |
Fn3-52 |
21 | rs1485610846 |
0.4965 | -1.54 | 0.999 | N | 0.734 | 0.4 | 0.5293115 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | 22663 |
Fn3-52 |
21 | rs1485610846 |
0.4965 | -1.54 | 0.999 | N | 0.734 | 0.4 | 0.5293115 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | 22663 |
Fn3-52 |
21 | rs1485610846 |
0.4965 | -1.54 | 0.999 | N | 0.734 | 0.4 | 0.5293115 | gnomAD-4.0.0 | 5.12785E-06 | None | None | None | None | N | None | 6.76888E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 22762 |
Fn3-53 |
20 | rs1359881893 |
0.9947 | -1.272 | 1.0 | D | 0.863 | 0.821 | 0.8865023 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.04069E-04 | None | 0 | None | 0 | 0 | 1.41683E-04 |
| L/P | 22762 |
Fn3-53 |
20 | rs1359881893 |
0.9947 | -1.272 | 1.0 | D | 0.863 | 0.821 | 0.8865023 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.16189E-03 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 22762 |
Fn3-53 |
20 | rs1359881893 |
0.9947 | -1.272 | 1.0 | D | 0.863 | 0.821 | 0.8865023 | gnomAD-4.0.0 | 5.27282E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.90515E-03 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | 22762 |
Fn3-53 |
20 | None | 0.9854 | None | 1.0 | D | 0.823 | 0.8 | 0.8648551 | gnomAD-4.0.0 | 6.84962E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.001E-07 | 0 | 0 |
| L/I | 22860 |
Fn3-54 |
20 | rs754466645 |
0.1463 | -0.342 | 0.999 | D | 0.543 | 0.321 | 0.68033063 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.21E-06 | 0 |
| L/I | 22860 |
Fn3-54 |
20 | rs754466645 |
0.1463 | -0.342 | 0.999 | D | 0.543 | 0.321 | 0.68033063 | gnomAD-4.0.0 | 1.58807E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.99118E-05 | 0 | 1.67358E-05 |
| L/P | 22860 |
Fn3-54 |
20 | rs751068065 |
0.9984 | -1.384 | 1.0 | D | 0.907 | 0.786 | 0.9129888 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.69E-05 | None | 0 | None | 0 | 0 | 0 |
| L/P | 22860 |
Fn3-54 |
20 | rs751068065 |
0.9984 | -1.384 | 1.0 | D | 0.907 | 0.786 | 0.9129888 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/F | 23059 |
Fn3-55 |
20 | rs1394979272 |
0.4952 | -1.598 | 0.988 | D | 0.675 | 0.408 | 0.6250037 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | 23059 |
Fn3-55 |
20 | rs1394979272 |
0.4952 | -1.598 | 0.988 | D | 0.675 | 0.408 | 0.6250037 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | 23059 |
Fn3-55 |
20 | rs1394979272 |
0.4952 | -1.598 | 0.988 | D | 0.675 | 0.408 | 0.6250037 | gnomAD-4.0.0 | 2.56464E-06 | None | None | None | None | N | None | 1.69314E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39498E-06 | 0 | 0 |
| V/I | 23158 |
Fn3-56 |
20 | None | 0.0668 | None | None | N | 0.165 | 0.034 | 0.2071765 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 0 | 0 |
| V/L | 23158 |
Fn3-56 |
20 | rs781570281 |
0.217 | -0.285 | 0.009 | N | 0.423 | 0.066 | 0.12421724 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| V/L | 23158 |
Fn3-56 |
20 | rs781570281 |
0.217 | -0.285 | 0.009 | N | 0.423 | 0.066 | 0.12421724 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74574E-05 | 0 | 0 | 0 | 0 |
| I/V | 23845 |
Fn3-61 |
20 | None | 0.0777 | None | 0.002 | N | 0.178 | 0.073 | 0.34448338 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 0 | 0 |
| L/I | 24142 |
Fn3-63 |
21 | None | 0.1063 | None | 0.884 | D | 0.325 | 0.237 | 0.2181128 | gnomAD-4.0.0 | 7.18185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.26877E-07 | 0 | 0 |
| L/P | 24142 |
Fn3-63 |
21 | rs986884075 |
0.9961 | -1.796 | 1.0 | D | 0.917 | 0.732 | 0.9050598 | gnomAD-2.1.1 | 5.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09E-05 | 0 |
| L/P | 24142 |
Fn3-63 |
21 | rs986884075 |
0.9961 | -1.796 | 1.0 | D | 0.917 | 0.732 | 0.9050598 | gnomAD-4.0.0 | 1.36733E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.76305E-05 | 0 | 0 |
| L/Q | 24142 |
Fn3-63 |
21 | rs986884075 |
0.9907 | None | 1.0 | D | 0.909 | 0.615 | 0.8735854 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| L/Q | 24142 |
Fn3-63 |
21 | rs986884075 |
0.9907 | None | 1.0 | D | 0.909 | 0.615 | 0.8735854 | gnomAD-4.0.0 | 1.94594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.61856E-06 | 0 | 0 |
| V/I | 24241 |
Fn3-64 |
20 | rs756997225 |
0.0729 | -0.232 | 0.997 | N | 0.53 | 0.254 | 0.64934874 | gnomAD-2.1.1 | 5.68E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.77E-05 | 0 | 0 |
| I/M | 24342 |
Fn3-65 |
20 | None | 0.1949 | None | 0.951 | N | 0.657 | 0.313 | 0.37479162 | gnomAD-4.0.0 | 2.05324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69891E-06 | 0 | 0 |
| I/T | 24342 |
Fn3-65 |
20 | None | 0.8345 | None | 0.684 | N | 0.713 | 0.398 | 0.58550423 | gnomAD-4.0.0 | 3.18465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-05 | 0 |
| I/V | 24342 |
Fn3-65 |
20 | rs1051443527 |
0.0702 | -0.893 | 0.012 | N | 0.206 | 0.051 | 0.21433856 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66223E-04 |
| I/V | 24342 |
Fn3-65 |
20 | rs1051443527 |
0.0702 | -0.893 | 0.012 | N | 0.206 | 0.051 | 0.21433856 | gnomAD-4.0.0 | 4.10641E-06 | None | None | None | None | N | None | 5.98086E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69889E-06 | 0 | 1.65722E-05 |
| L/P | 24538 |
Fn3-66 |
20 | None | 0.9981 | None | 1.0 | D | 0.93 | 0.721 | 0.7993725 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| L/V | 24635 |
Fn3-67 |
20 | rs757091463 |
0.2533 | -1.204 | 0.998 | N | 0.571 | 0.335 | 0.4611449 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| L/V | 24635 |
Fn3-67 |
20 | rs757091463 |
0.2533 | -1.204 | 0.998 | N | 0.571 | 0.335 | 0.4611449 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 24635 |
Fn3-67 |
20 | rs757091463 |
0.2533 | -1.204 | 0.998 | N | 0.571 | 0.335 | 0.4611449 | gnomAD-4.0.0 | 2.56348E-06 | None | None | None | None | N | None | 0 | 1.69555E-05 | None | 0 | 0 | None | 0 | 0 | 2.39396E-06 | 0 | 0 |
| L/F | 24828 |
Fn3-68 |
21 | rs375181431 |
0.1605 | -1.633 | 0.001 | N | 0.401 | 0.236 | 0.43559027 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| L/V | 24828 |
Fn3-68 |
21 | rs375181431 |
0.1017 | -1.519 | 0.009 | N | 0.495 | 0.07 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| L/V | 24828 |
Fn3-68 |
21 | rs375181431 |
0.1017 | -1.519 | 0.009 | N | 0.495 | 0.07 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 24828 |
Fn3-68 |
21 | rs375181431 |
0.1017 | -1.519 | 0.009 | N | 0.495 | 0.07 | None | gnomAD-4.0.0 | 2.5636E-06 | None | None | None | None | N | None | 3.38387E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 24927 |
Fn3-69 |
20 | rs1468819805 |
0.341 | -0.304 | 0.63 | N | 0.682 | 0.156 | 0.30733225 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/L | 24927 |
Fn3-69 |
20 | rs1468819805 |
0.341 | -0.304 | 0.63 | N | 0.682 | 0.156 | 0.30733225 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99611E-07 | 0 | 0 |
| L/P | 25025 |
Fn3-70 |
20 | rs3731743 |
0.9978 | None | 1.0 | D | 0.925 | 0.698 | 0.76963055 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 25025 |
Fn3-70 |
20 | rs3731743 |
0.9978 | None | 1.0 | D | 0.925 | 0.698 | 0.76963055 | gnomAD-4.0.0 | 6.8216E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23145E-04 | None | 0 | 0 | 8.48274E-07 | 0 | 0 |
| L/I | 25224 |
Fn3-71 |
21 | None | 0.0788 | None | 0.02 | N | 0.241 | 0.057 | 0.18381946 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| V/A | 25323 |
Fn3-72 |
20 | rs781058398 |
0.6155 | -2.481 | 0.978 | N | 0.668 | 0.461 | 0.71405256 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 8.49E-05 | None | 0 | 0 | None | 0 | None | 4E-05 | 0 | 0 |
| V/A | 25323 |
Fn3-72 |
20 | rs781058398 |
0.6155 | -2.481 | 0.978 | N | 0.668 | 0.461 | 0.71405256 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| V/A | 25323 |
Fn3-72 |
20 | rs781058398 |
0.6155 | -2.481 | 0.978 | N | 0.668 | 0.461 | 0.71405256 | gnomAD-4.0.0 | 5.12677E-06 | None | None | None | None | N | None | 0 | 5.08751E-05 | None | 0 | 0 | None | 1.56912E-05 | 0 | 0 | 0 | 0 |
| V/F | 25323 |
Fn3-72 |
20 | rs1342869441 |
0.8943 | -1.637 | 0.994 | N | 0.729 | 0.393 | 0.7718857 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/F | 25323 |
Fn3-72 |
20 | rs1342869441 |
0.8943 | -1.637 | 0.994 | N | 0.729 | 0.393 | 0.7718857 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| V/G | 25323 |
Fn3-72 |
20 | rs781058398 |
0.9215 | None | 0.999 | D | 0.887 | 0.583 | 0.8727322 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85917E-06 | 0 | 0 |
| I/V | 25620 |
Fn3-74 |
20 | rs773656560 |
0.0833 | -1.09 | 0.078 | N | 0.351 | 0.07 | None | gnomAD-2.1.1 | 2.04E-05 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 4.71E-05 | 2.69E-05 | 0 |
| I/V | 25620 |
Fn3-74 |
20 | rs773656560 |
0.0833 | -1.09 | 0.078 | N | 0.351 | 0.07 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.47E-05 | 2.06954E-04 | 0 |
| I/V | 25620 |
Fn3-74 |
20 | rs773656560 |
0.0833 | -1.09 | 0.078 | N | 0.351 | 0.07 | None | gnomAD-4.0.0 | 2.86013E-05 | None | None | None | None | N | None | 0 | 1.67949E-05 | None | 0 | 0 | None | 1.56612E-05 | 3.32116E-04 | 2.54955E-05 | 9.9723E-05 | 4.82594E-05 |
| I/M | 26009 |
Fn3-77 |
20 | rs951099049 |
0.2505 | None | 0.002 | N | 0.335 | 0.126 | 0.14312445 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-05 |
| I/T | 26009 |
Fn3-77 |
20 | rs1328584440 |
0.8891 | -2.59 | 0.012 | N | 0.557 | 0.362 | 0.64871764 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| I/T | 26009 |
Fn3-77 |
20 | rs1328584440 |
0.8891 | -2.59 | 0.012 | N | 0.557 | 0.362 | 0.64871764 | gnomAD-4.0.0 | 4.10606E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39749E-06 | 0 | 0 |
| L/S | 26107 |
Fn3-78 |
20 | rs2154166544 |
0.9956 | None | 1.0 | D | 0.892 | 0.612 | 0.85497457 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | 26306 |
Fn3-79 |
21 | rs374124734 |
0.9957 | None | 0.994 | D | 0.911 | 0.653 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | 26306 |
Fn3-79 |
21 | rs374124734 |
0.9957 | None | 0.994 | D | 0.911 | 0.653 | None | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 26405 |
Fn3-80 |
20 | rs769972835 |
0.0751 | 0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 1.29416E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 1.85632E-04 | 8.92E-06 | 0 |
| V/I | 26405 |
Fn3-80 |
20 | rs769972835 |
0.0751 | 0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 26405 |
Fn3-80 |
20 | rs769972835 |
0.0751 | 0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-4.0.0 | 2.23121E-05 | None | None | None | None | N | None | 4.00609E-05 | 0 | None | 0 | 0 | None | 6.2498E-05 | 0 | 2.03444E-05 | 3.29366E-05 | 3.20287E-05 |
| L/F | 26506 |
Fn3-81 |
20 | rs371783508 |
0.2397 | -1.442 | 0.001 | N | 0.379 | 0.228 | None | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| L/F | 26506 |
Fn3-81 |
20 | rs371783508 |
0.2397 | -1.442 | 0.001 | N | 0.379 | 0.228 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07297E-04 | 0 |
| L/F | 26506 |
Fn3-81 |
20 | rs371783508 |
0.2397 | -1.442 | 0.001 | N | 0.379 | 0.228 | None | gnomAD-4.0.0 | 2.10873E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37354E-05 | 1.09798E-05 | 8.00794E-05 |
| L/I | 26506 |
Fn3-81 |
20 | None | 0.0702 | None | 0.033 | N | 0.621 | 0.059 | 0.33516404 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31879E-05 | 0 |
| L/P | 26506 |
Fn3-81 |
20 | rs1197368510 |
0.9702 | None | 0.912 | D | 0.895 | 0.654 | 0.8559876 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | 26506 |
Fn3-81 |
20 | rs1197368510 |
0.9702 | None | 0.912 | D | 0.895 | 0.654 | 0.8559876 | gnomAD-4.0.0 | 3.84946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18098E-06 | 0 | 0 |
| L/V | 26506 |
Fn3-81 |
20 | None | 0.0646 | None | 0.001 | N | 0.269 | 0.069 | 0.318541 | gnomAD-4.0.0 | 6.84792E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99533E-07 | 0 | 0 |
| L/V | 26702 |
Fn3-82 |
20 | rs746800300 |
0.1236 | -1.445 | 0.999 | N | 0.569 | 0.344 | 0.56691945 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| L/V | 26702 |
Fn3-82 |
20 | rs746800300 |
0.1236 | -1.445 | 0.999 | N | 0.569 | 0.344 | 0.56691945 | gnomAD-4.0.0 | 3.18377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71919E-06 | 0 | 0 |
| L/F | 26799 |
Fn3-83 |
20 | rs781537985 |
0.3725 | -1.628 | 0.208 | D | 0.367 | 0.315 | 0.44389698 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| L/F | 26799 |
Fn3-83 |
20 | rs781537985 |
0.3725 | -1.628 | 0.208 | D | 0.367 | 0.315 | 0.44389698 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85933E-06 | 0 | 0 |
| L/R | 26799 |
Fn3-83 |
20 | rs1236098527 |
0.9855 | -1.888 | 1.0 | D | 0.863 | 0.69 | 0.85297406 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| L/R | 26799 |
Fn3-83 |
20 | rs1236098527 |
0.9855 | -1.888 | 1.0 | D | 0.863 | 0.69 | 0.85297406 | gnomAD-4.0.0 | 6.1586E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09615E-06 | 0 | 0 |
| I/M | 26992 |
Fn3-84 |
21 | rs754446799 |
0.1131 | None | 0.81 | N | 0.605 | 0.078 | 0.26866075 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | 26992 |
Fn3-84 |
21 | rs754446799 |
0.1131 | None | 0.81 | N | 0.605 | 0.078 | 0.26866075 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| I/T | 26992 |
Fn3-84 |
21 | rs771535559 |
0.8556 | -2.101 | 0.549 | N | 0.651 | 0.39 | 0.6003144 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/T | 26992 |
Fn3-84 |
21 | rs771535559 |
0.8556 | -2.101 | 0.549 | N | 0.651 | 0.39 | 0.6003144 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 5.98193E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9964E-07 | 0 | 0 |
| V/E | 27091 |
Fn3-85 |
20 | None | 0.9937 | None | 0.967 | D | 0.815 | 0.539 | 0.7790901 | gnomAD-4.0.0 | 1.59314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86002E-06 | 0 | 0 |
| V/G | 27091 |
Fn3-85 |
20 | None | 0.9454 | None | 0.967 | D | 0.821 | 0.481 | 0.8430775 | gnomAD-4.0.0 | 1.59314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43612E-05 | 0 |
| L/V | 27189 |
Fn3-86 |
20 | rs142391957 |
0.1176 | -1.247 | 0.999 | N | 0.546 | 0.335 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/V | 27189 |
Fn3-86 |
20 | rs142391957 |
0.1176 | -1.247 | 0.999 | N | 0.546 | 0.335 | None | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 2.89495E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | 27189 |
Fn3-86 |
20 | rs142391957 |
0.1176 | -1.247 | 0.999 | N | 0.546 | 0.335 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 2.89673E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 27189 |
Fn3-86 |
20 | rs142391957 |
0.1176 | -1.247 | 0.999 | N | 0.546 | 0.335 | None | gnomAD-4.0.0 | 1.54951E-05 | None | None | None | None | N | None | 2.93318E-04 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20184E-05 |
| V/I | 27488 |
Fn3-88 |
20 | rs1704546804 |
0.0969 | None | 0.055 | N | 0.512 | 0.065 | 0.43449712 | gnomAD-4.0.0 | 2.18942E-05 | None | None | None | None | N | None | 2.98757E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.78836E-05 | 0 | 0 |
| V/L | 27488 |
Fn3-88 |
20 | None | 0.2016 | None | None | N | 0.331 | 0.073 | 0.34425116 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| L/F | 27785 |
Fn3-90 |
20 | None | 0.4699 | None | 0.994 | D | 0.689 | 0.374 | 0.641816 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| L/S | 27785 |
Fn3-90 |
20 | None | 0.9863 | None | 1.0 | D | 0.879 | 0.628 | 0.80881834 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/M | 27882 |
Fn3-91 |
20 | None | 0.177 | None | 0.099 | N | 0.438 | 0.057 | 0.43471617 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 2.28906E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 27882 |
Fn3-91 |
20 | rs548211686 |
0.0998 | -1.08 | 0.099 | N | 0.377 | 0.045 | 0.18381946 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/V | 27882 |
Fn3-91 |
20 | rs548211686 |
0.0998 | -1.08 | 0.099 | N | 0.377 | 0.045 | 0.18381946 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.1212E-04 | None | 0 | None | 0 | 0 | 0 |
| I/V | 27882 |
Fn3-91 |
20 | rs548211686 |
0.0998 | -1.08 | 0.099 | N | 0.377 | 0.045 | 0.18381946 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 27882 |
Fn3-91 |
20 | rs548211686 |
0.0998 | -1.08 | 0.099 | N | 0.377 | 0.045 | 0.18381946 | gnomAD-4.0.0 | 2.47926E-06 | None | None | None | None | N | None | 1.33294E-05 | 0 | None | 0 | 6.69792E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 28074 |
Fn3-92 |
20 | rs1202396763 |
0.0863 | None | 0.022 | N | 0.224 | 0.092 | 0.38140905 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 28074 |
Fn3-92 |
20 | rs1202396763 |
0.0863 | None | 0.022 | N | 0.224 | 0.092 | 0.38140905 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 28173 |
Fn3-93 |
20 | rs1559299770 |
0.8391 | None | 0.999 | N | 0.636 | 0.503 | 0.6233154 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 28173 |
Fn3-93 |
20 | rs1703687594 |
0.0931 | None | 0.997 | N | 0.543 | 0.308 | 0.44236374 | gnomAD-4.0.0 | 1.36935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79965E-06 | 0 | 0 |
| L/F | 28271 |
Fn3-94 |
20 | None | 0.7414 | None | 1.0 | D | 0.733 | 0.514 | 0.698487 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| L/V | 28470 |
Fn3-95 |
21 | None | 0.1321 | None | 0.014 | N | 0.343 | 0.214 | 0.2876038 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-06 | 0 | 0 |
| I/T | 28670 |
Fn3-97 |
20 | rs1703105655 |
0.5724 | None | 0.001 | N | 0.549 | 0.347 | 0.60324967 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | 28670 |
Fn3-97 |
20 | rs1703105655 |
0.5724 | None | 0.001 | N | 0.549 | 0.347 | 0.60324967 | gnomAD-4.0.0 | 2.0301E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40985E-06 | 0 | 0 |
| I/V | 28670 |
Fn3-97 |
20 | rs1442019751 |
0.0734 | -1.399 | 0.001 | N | 0.227 | 0.058 | 0.28376195 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| I/V | 28670 |
Fn3-97 |
20 | rs1442019751 |
0.0734 | -1.399 | 0.001 | N | 0.227 | 0.058 | 0.28376195 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07987E-04 | 0 |
| I/V | 28670 |
Fn3-97 |
20 | rs1442019751 |
0.0734 | -1.399 | 0.001 | N | 0.227 | 0.058 | 0.28376195 | gnomAD-4.0.0 | 3.09878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-07 | 4.39261E-05 | 0 |
| L/P | 28961 |
Fn3-99 |
20 | rs1702379726 |
0.9969 | None | 1.0 | D | 0.895 | 0.785 | 0.8099788 | gnomAD-4.0.0 | 4.77456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.33843E-05 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | 29157 |
Fn3-100 |
21 | rs1311609495 |
0.3335 | -1.813 | 0.999 | N | 0.753 | 0.467 | 0.73450273 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| L/F | 29157 |
Fn3-100 |
21 | rs1311609495 |
0.3335 | -1.813 | 0.999 | N | 0.753 | 0.467 | 0.73450273 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8578E-06 | 0 | 0 |
| L/V | 29354 |
Fn3-102 |
20 | None | 0.1247 | None | 0.989 | N | 0.654 | 0.316 | 0.37208793 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/A | 29652 |
Fn3-104 |
20 | rs748609330 |
0.642 | -2.709 | 0.999 | N | 0.623 | 0.495 | 0.6760121 | gnomAD-2.1.1 | 2.17E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.76E-05 | 0 |
| V/A | 29652 |
Fn3-104 |
20 | rs748609330 |
0.642 | -2.709 | 0.999 | N | 0.623 | 0.495 | 0.6760121 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/A | 29652 |
Fn3-104 |
20 | rs748609330 |
0.642 | -2.709 | 0.999 | N | 0.623 | 0.495 | 0.6760121 | gnomAD-4.0.0 | 1.05495E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44161E-05 | 0 | 0 |
| V/I | 29652 |
Fn3-104 |
20 | rs756561910 |
0.0869 | -0.615 | 0.997 | N | 0.518 | 0.23 | 0.5847676 | gnomAD-2.1.1 | 1.81E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.18E-05 | 0 |
| V/I | 29652 |
Fn3-104 |
20 | rs756561910 |
0.0869 | -0.615 | 0.997 | N | 0.518 | 0.23 | 0.5847676 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 1.44725E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/I | 29652 |
Fn3-104 |
20 | rs756561910 |
0.0869 | -0.615 | 0.997 | N | 0.518 | 0.23 | 0.5847676 | gnomAD-4.0.0 | 1.92699E-05 | None | None | None | None | N | None | 1.35768E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6773E-05 | 0 | 0 |
| L/F | 29753 |
Fn3-105 |
20 | rs1700246631 |
0.5423 | None | 1.0 | N | 0.763 | 0.493 | 0.5658299 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | 29753 |
Fn3-105 |
20 | rs1700246631 |
0.5423 | None | 1.0 | N | 0.763 | 0.493 | 0.5658299 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 2.4122E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/H | 29753 |
Fn3-105 |
20 | rs369279892 |
0.9885 | -3.205 | 1.0 | D | 0.912 | 0.795 | None | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 2.58632E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/H | 29753 |
Fn3-105 |
20 | rs369279892 |
0.9885 | -3.205 | 1.0 | D | 0.912 | 0.795 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/H | 29753 |
Fn3-105 |
20 | rs369279892 |
0.9885 | -3.205 | 1.0 | D | 0.912 | 0.795 | None | gnomAD-4.0.0 | 5.14028E-06 | None | None | None | None | N | None | 6.7675E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | 30639 |
Fn3-111 |
21 | None | 0.9945 | None | 1.0 | D | 0.932 | 0.756 | 0.89846134 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| L/P | 30639 |
Fn3-111 |
21 | None | 0.9945 | None | 1.0 | D | 0.932 | 0.756 | 0.89846134 |
Yu (2019)
| None |
Other
|
comp het with N19955I (in trans), c.44282-2A>G (in cis) | None | None | N | Genetic analysis of single patient with congenital titinopathy; comp het with N19955I; significant decrease in full-length titin protein in biopsy samples compared to WT | None | None | None | None | None | None | None | None | None | None | None |
| L/V | 30639 |
Fn3-111 |
21 | rs373049260 |
0.1362 | -1.387 | 0.767 | N | 0.345 | 0.186 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| L/V | 30639 |
Fn3-111 |
21 | rs373049260 |
0.1362 | -1.387 | 0.767 | N | 0.345 | 0.186 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| L/V | 30639 |
Fn3-111 |
21 | rs373049260 |
0.1362 | -1.387 | 0.767 | N | 0.345 | 0.186 | None | gnomAD-4.0.0 | 3.10959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2542E-06 | 0 | 0 |
| L/R | 30738 |
Fn3-112 |
20 | None | 0.9895 | None | 0.984 | D | 0.844 | 0.625 | 0.8483712 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-06 | 0 | 0 |
| L/F | 30840 |
Fn3-113 |
20 | rs772574748 |
0.5594 | -1.885 | 0.999 | D | 0.734 | 0.443 | 0.41206443 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | 30840 |
Fn3-113 |
20 | rs772574748 |
0.5594 | -1.885 | 0.999 | D | 0.734 | 0.443 | 0.41206443 | gnomAD-4.0.0 | 6.36444E-06 | None | None | None | None | N | None | 0 | 9.14704E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/S | 30840 |
Fn3-113 |
20 | rs1466809738 |
0.9946 | -3.71 | 1.0 | D | 0.9 | 0.589 | 0.84860975 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| L/S | 30840 |
Fn3-113 |
20 | rs1466809738 |
0.9946 | -3.71 | 1.0 | D | 0.9 | 0.589 | 0.84860975 | gnomAD-4.0.0 | 4.78927E-06 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 3.59776E-06 | 2.31863E-05 | 0 |
| L/V | 31035 |
Fn3-114 |
20 | rs760377288 |
0.119 | None | 0.911 | N | 0.575 | 0.265 | 0.23503894 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| L/V | 31035 |
Fn3-114 |
20 | rs760377288 |
0.119 | None | 0.911 | N | 0.575 | 0.265 | 0.23503894 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-05 |
| L/R | 31328 |
Fn3-116 |
21 | rs754710293 |
0.9927 | -1.744 | 1.0 | D | 0.837 | 0.797 | 0.8306189 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| L/R | 31328 |
Fn3-116 |
21 | rs754710293 |
0.9927 | -1.744 | 1.0 | D | 0.837 | 0.797 | 0.8306189 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-06 | 0 | 0 |
| I/L | 31427 |
Fn3-117 |
20 | rs776226409 |
0.1424 | -0.713 | 0.993 | N | 0.382 | 0.291 | 0.31501684 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/L | 31427 |
Fn3-117 |
20 | rs776226409 |
0.1424 | -0.713 | 0.993 | N | 0.382 | 0.291 | 0.31501684 | gnomAD-4.0.0 | 4.10533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39699E-06 | 0 | 0 |
| I/V | 31427 |
Fn3-117 |
20 | None | 0.1061 | None | 0.993 | N | 0.343 | 0.246 | 0.47089013 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| L/M | 31525 |
Fn3-118 |
20 | rs1297210935 |
0.3882 | None | 0.999 | D | 0.688 | 0.455 | 0.72596437 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.13E-06 | 0 |
| L/M | 31525 |
Fn3-118 |
20 | rs1297210935 |
0.3882 | None | 0.999 | D | 0.688 | 0.455 | 0.72596437 | gnomAD-4.0.0 | 1.62134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93011E-06 | 0 | 0 |
| L/S | 31727 |
Fn3-119 |
20 | None | 0.9842 | None | 0.994 | D | 0.795 | 0.685 | 0.8714871 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.94099E-04 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/F | 31826 |
Fn3-120 |
20 | rs1441494363 |
0.5963 | -1.745 | 0.997 | N | 0.644 | 0.391 | 0.67239267 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | 31826 |
Fn3-120 |
20 | rs1441494363 |
0.5963 | -1.745 | 0.997 | N | 0.644 | 0.391 | 0.67239267 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | 31826 |
Fn3-120 |
20 | rs1441494363 |
0.5963 | -1.745 | 0.997 | N | 0.644 | 0.391 | 0.67239267 | gnomAD-4.0.0 | 2.62784E-05 | None | None | None | None | N | None | 9.64599E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 31826 |
Fn3-120 |
20 | rs1441494363 |
0.1372 | None | 0.889 | N | 0.263 | 0.159 | 0.4073579 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 8.9952E-07 | 0 | 0 |
| I/L | 32124 |
Fn3-122 |
20 | None | 0.12 | None | 0.011 | N | 0.248 | 0.096 | 0.22521536 | gnomAD-4.0.0 | 1.61278E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86071E-06 | 0 | 0 |
| I/T | 32124 |
Fn3-122 |
20 | rs779223056 |
0.9746 | -3.073 | 0.896 | N | 0.733 | 0.462 | 0.68254447 | gnomAD-2.1.1 | 3.31E-05 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 1.96747E-04 | None | 0 | 0 | 0 |
| I/T | 32124 |
Fn3-122 |
20 | rs779223056 |
0.9746 | -3.073 | 0.896 | N | 0.733 | 0.462 | 0.68254447 | gnomAD-4.0.0 | 8.25783E-06 | None | None | None | None | N | None | 0 | 4.47567E-05 | None | 0 | 0 | None | 0 | 0 | 8.99706E-07 | 9.27988E-05 | 1.65832E-05 |
| L/V | 32221 |
Fn3-123 |
20 | rs1695511296 |
0.1379 | None | 0.05 | N | 0.616 | 0.181 | 0.44859776 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| I/V | 32419 |
Fn3-124 |
21 | rs746131466 |
0.0779 | -1.272 | 0.011 | N | 0.163 | 0.057 | 0.3120017 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| I/V | 32419 |
Fn3-124 |
21 | rs746131466 |
0.0779 | -1.272 | 0.011 | N | 0.163 | 0.057 | 0.3120017 | gnomAD-4.0.0 | 3.18845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73181E-06 | 0 | 0 |
| L/V | 32518 |
Fn3-125 |
20 | rs1178885715 |
0.104 | -1.722 | 0.17 | N | 0.367 | 0.128 | 0.46597528 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.85E-06 | 0 |
| L/V | 32518 |
Fn3-125 |
20 | rs1178885715 |
0.104 | -1.722 | 0.17 | N | 0.367 | 0.128 | 0.46597528 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 32518 |
Fn3-125 |
20 | rs1178885715 |
0.104 | -1.722 | 0.17 | N | 0.367 | 0.128 | 0.46597528 | gnomAD-4.0.0 | 6.19966E-06 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.6308E-06 | 0 | 0 |
| L/F | 32916 |
Fn3-128 |
21 | None | 0.8479 | None | 1.0 | N | 0.711 | 0.479 | 0.5712783 | gnomAD-4.0.0 | 2.05265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69846E-06 | 0 | 0 |
| L/Q | 33017 |
Fn3-129 |
20 | rs1300155629 |
0.9737 | -2.332 | 0.997 | D | 0.874 | 0.672 | 0.85769916 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| L/Q | 33017 |
Fn3-129 |
20 | rs1300155629 |
0.9737 | -2.332 | 0.997 | D | 0.874 | 0.672 | 0.85769916 | gnomAD-4.0.0 | 4.77487E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29984E-05 | 0 |
| L/R | 33017 |
Fn3-129 |
20 | None | 0.9824 | None | 0.997 | D | 0.857 | 0.713 | 0.8700819 | gnomAD-4.0.0 | 1.59162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 0 | 0 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.