Structural position:
- Domain Type: Fn3
- Aligned Position: 93
- Secondary Structure Element: e
- Secondary Structure Region: β-strand E
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | 15718 |
Fn3-1 |
62 | None | 0.1185 | None | 0.987 | N | 0.554 | 0.193 | 0.542587012665 | gnomAD-4.0.0 | 1.59336E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86223E-06 | 0 | 0 |
| V/G | 15820 |
Fn3-2 |
63 | None | 0.9125 | None | 0.97 | D | 0.822 | 0.579 | 0.904401613803 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| V/L | 15820 |
Fn3-2 |
63 | rs1553710237 |
0.2406 | None | 0.006 | N | 0.237 | 0.065 | 0.30212335484 | gnomAD-4.0.0 | 1.5935E-06 | None | None | None | None | N | None | 5.67924E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 15921 |
Fn3-3 |
63 | None | 0.6437 | None | 0.025 | D | 0.332 | 0.343 | 0.587570084647 | gnomAD-4.0.0 | 2.15989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7841E-06 | 0 | 0 |
| V/F | 15921 |
Fn3-3 |
63 | None | 0.6413 | None | 0.967 | D | 0.785 | 0.396 | 0.740245011328 | gnomAD-4.0.0 | 7.19923E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.73714E-05 |
| V/I | 15921 |
Fn3-3 |
63 | rs778682806 |
0.1198 | None | 0.63 | N | 0.609 | 0.24 | 0.44551302605 | gnomAD-4.0.0 | 7.19923E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.28057E-07 | 0 | 0 |
| V/L | 15921 |
Fn3-3 |
63 | rs778682806 |
0.5182 | -0.153 | 0.63 | N | 0.593 | 0.305 | 0.588023434665 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.00543E-04 | None | 0 | 0 | 0 |
| V/L | 15921 |
Fn3-3 |
63 | rs778682806 |
0.5182 | -0.153 | 0.63 | N | 0.593 | 0.305 | 0.588023434665 | gnomAD-4.0.0 | 7.19923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.28057E-07 | 1.19367E-04 | 0 |
| V/A | 16116 |
Fn3-4 |
62 | None | 0.6761 | None | 0.999 | D | 0.661 | 0.481 | 0.684715264095 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-05 |
| V/D | 16116 |
Fn3-4 |
62 | rs747142700 |
0.9884 | -3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | 16116 |
Fn3-4 |
62 | rs747142700 |
0.9884 | -3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | 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/D | 16116 |
Fn3-4 |
62 | rs747142700 |
0.9884 | -3.236 | 1.0 | D | 0.839 | 0.729 | 0.878536055376 | gnomAD-4.0.0 | 1.97431E-05 | None | None | None | None | N | None | 7.24253E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 16116 |
Fn3-4 |
62 | rs367769671 |
0.0809 | 0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/I | 16116 |
Fn3-4 |
62 | rs367769671 |
0.0809 | 0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | 16116 |
Fn3-4 |
62 | rs367769671 |
0.0809 | 0.098 | 0.997 | N | 0.55 | 0.242 | None | gnomAD-4.0.0 | 5.21137E-05 | None | None | None | None | N | None | 1.33718E-05 | 0 | None | 3.38524E-05 | 0 | None | 0 | 0 | 6.87171E-05 | 0 | 1.60354E-05 |
| V/A | 16216 |
Fn3-5 |
62 | None | 0.6632 | None | 0.998 | D | 0.638 | 0.5 | 0.552005039658 | gnomAD-4.0.0 | 1.6308E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.925E-06 | 0 | 0 |
| A/G | 16412 |
Fn3-6 |
62 | rs746659077 |
0.4363 | -1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 5.98683E-04 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/G | 16412 |
Fn3-6 |
62 | rs746659077 |
0.4363 | -1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 1.15473E-03 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | 16412 |
Fn3-6 |
62 | rs746659077 |
0.4363 | -1.389 | 0.989 | D | 0.64 | 0.377 | 0.420080204436 | gnomAD-4.0.0 | 1.11642E-05 | None | None | None | None | N | None | 0 | 0 | None | 4.73485E-04 | 0 | None | 0 | 0 | 3.3921E-06 | 0 | 0 |
| A/V | 16412 |
Fn3-6 |
62 | rs746659077 |
0.1586 | 0.664 | 0.235 | N | 0.391 | 0.189 | 0.239901079897 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/V | 16412 |
Fn3-6 |
62 | rs746659077 |
0.1586 | 0.664 | 0.235 | N | 0.391 | 0.189 | 0.239901079897 | gnomAD-4.0.0 | 1.02705E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34974E-05 | 0 | 0 |
| V/L | 16512 |
Fn3-7 |
63 | rs2056682853 |
0.8184 | None | 0.997 | N | 0.647 | 0.325 | 0.610013871061 | gnomAD-4.0.0 | 1.20194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31426E-06 | 0 | 0 |
| L/F | 16612 |
Fn3-8 |
62 | rs750840061 |
0.532 | -1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | 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/F | 16612 |
Fn3-8 |
62 | rs750840061 |
0.532 | -1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | 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/F | 16612 |
Fn3-8 |
62 | rs750840061 |
0.532 | -1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | gnomAD-4.0.0 | 2.56628E-06 | None | None | None | None | N | None | 1.69451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39615E-06 | 0 | 0 |
| L/P | 16612 |
Fn3-8 |
62 | rs779177073 |
0.9744 | -1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | 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 |
| L/P | 16612 |
Fn3-8 |
62 | rs779177073 |
0.9744 | -1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | 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 | 16612 |
Fn3-8 |
62 | rs779177073 |
0.9744 | -1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | gnomAD-4.0.0 | 7.69884E-06 | None | None | None | None | N | None | 1.6944E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.70403E-05 | 0 |
| V/D | 16712 |
Fn3-9 |
62 | None | 0.9983 | None | 1.0 | D | 0.84 | 0.687 | 0.847127511703 | gnomAD-4.0.0 | 6.84701E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9986E-07 | 0 | 0 |
| V/G | 16712 |
Fn3-9 |
62 | rs1314552701 |
0.968 | -3.055 | 1.0 | D | 0.848 | 0.672 | 0.905301469533 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | 16712 |
Fn3-9 |
62 | rs1314552701 |
0.968 | -3.055 | 1.0 | D | 0.848 | 0.672 | 0.905301469533 | gnomAD-4.0.0 | 4.1082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95781E-05 | 0 |
| V/I | 16712 |
Fn3-9 |
62 | None | 0.13 | None | 0.997 | N | 0.547 | 0.253 | 0.453772157364 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53537E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 16712 |
Fn3-9 |
62 | rs2056497488 |
0.7603 | None | 0.997 | N | 0.666 | 0.31 | 0.370424759081 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15964E-05 | 0 |
| V/I | 16813 |
Fn3-10 |
63 | None | 0.1482 | None | 0.997 | N | 0.538 | 0.281 | 0.618934792644 | gnomAD-4.0.0 | 1.36912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99802E-07 | 0 | 1.65777E-05 |
| V/M | 17108 |
Fn3-12 |
62 | None | 0.6277 | None | 1.0 | N | 0.751 | 0.44 | 0.66694160307 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-06 | 0 | 0 |
| A/T | 17209 |
Fn3-13 |
63 | rs1292930837 |
0.1437 | None | 0.324 | N | 0.675 | 0.175 | None | 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 |
| A/T | 17209 |
Fn3-13 |
63 | rs1292930837 |
0.1437 | None | 0.324 | N | 0.675 | 0.175 | None | gnomAD-4.0.0 | 6.82061E-06 | None | None | None | None | N | None | 6.68342E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08812E-06 | 0 | 0 |
| V/A | 17531 |
Fn3-15 |
62 | rs764524150 |
0.1851 | -2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | 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/A | 17531 |
Fn3-15 |
62 | rs764524150 |
0.1851 | -2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | 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 |
| V/A | 17531 |
Fn3-15 |
62 | rs764524150 |
0.1851 | -2.353 | 0.046 | N | 0.352 | 0.244 | 0.292787519742 | gnomAD-4.0.0 | 3.72175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24049E-06 | 0 | 1.60328E-05 |
| V/I | 17531 |
Fn3-15 |
62 | None | 0.1177 | None | 0.863 | N | 0.561 | 0.207 | 0.49530441419 | 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/I | 17631 |
Fn3-16 |
63 | rs749503285 |
0.1037 | -0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 1.24049E-04 | 5.66E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.82E-06 | 0 |
| V/I | 17631 |
Fn3-16 |
63 | rs749503285 |
0.1037 | -0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93125E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 17631 |
Fn3-16 |
63 | rs749503285 |
0.1037 | -0.012 | 0.999 | N | 0.547 | 0.355 | 0.649732848243 | gnomAD-4.0.0 | 1.674E-05 | None | None | None | None | N | None | 1.33601E-04 | 6.67401E-05 | None | 0 | 0 | None | 0 | 0 | 7.63153E-06 | 4.39213E-05 | 0 |
| I/T | 17824 |
Fn3-17 |
61 | rs765709539 |
0.9537 | -3.012 | 0.99 | N | 0.73 | 0.455 | 0.669809909516 | gnomAD-2.1.1 | 3.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61986E-04 | None | 0 | 8.91E-06 | 0 |
| I/T | 17824 |
Fn3-17 |
61 | rs765709539 |
0.9537 | -3.012 | 0.99 | N | 0.73 | 0.455 | 0.669809909516 | 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 |
| I/T | 17824 |
Fn3-17 |
61 | rs765709539 |
0.9537 | -3.012 | 0.99 | N | 0.73 | 0.455 | 0.669809909516 | gnomAD-4.0.0 | 1.17809E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47968E-07 | 1.97824E-04 | 0 |
| V/A | 17924 |
Fn3-18 |
63 | rs879168076 |
0.3303 | None | 0.999 | N | 0.647 | 0.51 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31216E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 17924 |
Fn3-18 |
63 | rs879168076 |
0.3303 | None | 0.999 | N | 0.647 | 0.51 | None | gnomAD-4.0.0 | 4.96182E-06 | None | None | None | None | N | None | 1.33679E-05 | 3.33756E-05 | None | 0 | 0 | None | 0 | 0 | 4.2412E-06 | 0 | 0 |
| V/I | 17924 |
Fn3-18 |
63 | rs886916206 |
0.1019 | 0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 17924 |
Fn3-18 |
63 | rs886916206 |
0.1019 | 0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | 17924 |
Fn3-18 |
63 | rs886916206 |
0.1019 | 0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-4.0.0 | 6.82319E-06 | None | None | None | None | N | None | 0 | 3.33856E-05 | None | 0 | 0 | None | 0 | 0 | 6.78615E-06 | 0 | 1.60298E-05 |
| I/S | 18128 |
Fn3-19 |
64 | rs765843072 |
0.7884 | -2.925 | 0.055 | N | 0.723 | 0.37 | 0.722937646298 | gnomAD-2.1.1 | 1.26E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.55207E-04 | None | 0 | 0 | 0 |
| I/S | 18128 |
Fn3-19 |
64 | rs765843072 |
0.7884 | -2.925 | 0.055 | N | 0.723 | 0.37 | 0.722937646298 | gnomAD-4.0.0 | 1.00711E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.52202E-04 | 0 |
| V/A | 18233 |
Fn3-20 |
68 | None | 0.7872 | None | 0.999 | N | 0.611 | 0.453 | 0.562807121957 | gnomAD-4.0.0 | 1.5933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86279E-06 | 0 | 0 |
| V/D | 18233 |
Fn3-20 |
68 | rs1060500469 |
0.9919 | None | 1.0 | N | 0.85 | 0.673 | 0.775735391153 | 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/D | 18233 |
Fn3-20 |
68 | rs1060500469 |
0.9919 | None | 1.0 | N | 0.85 | 0.673 | 0.775735391153 | gnomAD-4.0.0 | 6.5825E-06 | None | None | None | None | N | None | 2.41464E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 18233 |
Fn3-20 |
68 | rs374996996 |
0.1439 | -0.132 | 0.997 | N | 0.508 | 0.298 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29416E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/E | 18336 |
Fn3-21 |
65 | None | 0.9481 | None | 0.997 | D | 0.879 | 0.632 | 0.813960563265 | gnomAD-4.0.0 | 1.59327E-06 | None | None | None | None | N | None | 5.66958E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 18540 |
Fn3-22 |
62 | rs779623773 |
0.8315 | -2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| V/A | 18540 |
Fn3-22 |
62 | rs779623773 |
0.8315 | -2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/A | 18540 |
Fn3-22 |
62 | rs779623773 |
0.8315 | -2.158 | 0.977 | N | 0.654 | 0.441 | 0.696702113953 | gnomAD-4.0.0 | 1.30222E-05 | None | None | None | None | N | None | 2.67158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61113E-05 | 0 | 0 |
| V/L | 18540 |
Fn3-22 |
62 | rs2053409641 |
0.4905 | None | 0.898 | N | 0.628 | 0.167 | 0.565391359567 | 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 |
| V/A | 18646 |
Fn3-23 |
68 | rs2053262199 |
0.3013 | None | 0.014 | N | 0.383 | 0.231 | 0.47185959272 | gnomAD-4.0.0 | 3.4224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49888E-06 | 0 | 0 |
| I/T | 18846 |
Fn3-24 |
63 | rs766906652 |
0.8025 | -3.42 | 0.124 | N | 0.794 | 0.299 | None | gnomAD-2.1.1 | 1.46E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.03E-05 | 2.0903E-04 |
| I/T | 18846 |
Fn3-24 |
63 | rs766906652 |
0.8025 | -3.42 | 0.124 | N | 0.794 | 0.299 | None | 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 |
| I/T | 18846 |
Fn3-24 |
63 | rs766906652 |
0.8025 | -3.42 | 0.124 | N | 0.794 | 0.299 | None | gnomAD-4.0.0 | 2.17298E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.84042E-05 | 0 | 1.6575E-05 |
| V/I | 19245 |
Fn3-27 |
63 | rs763810038 |
0.0888 | -0.267 | 0.603 | N | 0.543 | 0.215 | 0.551838628669 | 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 |
| V/A | 19346 |
Fn3-28 |
63 | rs754793079 |
0.4149 | -2.343 | 0.334 | N | 0.574 | 0.29 | 0.506250668499 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | 19346 |
Fn3-28 |
63 | rs754793079 |
0.4149 | -2.343 | 0.334 | N | 0.574 | 0.29 | 0.506250668499 | gnomAD-4.0.0 | 2.12159E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5704E-04 | None | 0 | 0 | 0 | 0 | 1.657E-05 |
| V/F | 19346 |
Fn3-28 |
63 | None | 0.4165 | None | 0.81 | N | 0.787 | 0.356 | 0.715428137178 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-06 | 0 | 0 |
| V/G | 19346 |
Fn3-28 |
63 | None | 0.7035 | None | 0.712 | D | 0.824 | 0.372 | 0.811903216846 | gnomAD-4.0.0 | 6.84383E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99617E-07 | 0 | 0 |
| V/A | 19541 |
Fn3-29 |
63 | rs760841948 |
0.6485 | -2.293 | 0.025 | N | 0.373 | 0.211 | 0.427596317008 | 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/A | 19541 |
Fn3-29 |
63 | rs760841948 |
0.6485 | -2.293 | 0.025 | N | 0.373 | 0.211 | 0.427596317008 | gnomAD-4.0.0 | 1.59233E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 0 |
| V/A | 19641 |
Fn3-30 |
63 | None | 0.6684 | None | 0.892 | N | 0.659 | 0.332 | 0.628610474668 | gnomAD-4.0.0 | 1.20036E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31254E-06 | 0 | 0 |
| V/A | 19744 |
Fn3-31 |
65 | None | 0.6931 | None | 0.989 | N | 0.661 | 0.391 | 0.597208634801 | 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 |
| A/T | 19938 |
Fn3-32 |
62 | rs755204306 |
0.1964 | -1.166 | 1.0 | N | 0.697 | 0.268 | 0.46614307118 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| A/T | 19938 |
Fn3-32 |
62 | rs755204306 |
0.1964 | -1.166 | 1.0 | N | 0.697 | 0.268 | 0.46614307118 | 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 |
| A/T | 19938 |
Fn3-32 |
62 | rs755204306 |
0.1964 | -1.166 | 1.0 | N | 0.697 | 0.268 | 0.46614307118 |
Sasaki (2020)
| None |
Other
|
comp het with A9980T, R29293C | None | None | N | Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation | None | None | None | None | None | None | None | None | None | None | None |
| A/T | 19938 |
Fn3-32 |
62 | rs755204306 |
0.1964 | -1.166 | 1.0 | N | 0.697 | 0.268 | 0.46614307118 | gnomAD-4.0.0 | 3.59616E-05 | None | None | None | None | N | None | 1.33568E-05 | 0 | None | 0 | 3.58568E-04 | None | 0 | 0 | 2.54347E-05 | 8.78677E-05 | 4.80708E-05 |
| A/V | 19938 |
Fn3-32 |
62 | rs1187337182 |
0.1306 | 0.677 | 0.992 | N | 0.639 | 0.354 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| A/V | 19938 |
Fn3-32 |
62 | rs1187337182 |
0.1306 | 0.677 | 0.992 | N | 0.639 | 0.354 | None | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| A/V | 19938 |
Fn3-32 |
62 | rs1187337182 |
0.1306 | 0.677 | 0.992 | N | 0.639 | 0.354 | None | gnomAD-4.0.0 | 7.25416E-05 | None | None | None | None | N | None | 2.67115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58025E-05 | 0 | 3.20451E-05 |
| V/F | 20037 |
Fn3-33 |
61 | rs749438176 |
0.803 | -1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14509E-04 | None | 0 | None | 0 | 0 | 0 |
| V/F | 20037 |
Fn3-33 |
61 | rs749438176 |
0.803 | -1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82977E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | 20037 |
Fn3-33 |
61 | rs749438176 |
0.803 | -1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-4.0.0 | 7.69105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.45815E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 20037 |
Fn3-33 |
61 | rs749438176 |
0.6257 | 0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | 20037 |
Fn3-33 |
61 | rs749438176 |
0.6257 | 0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | 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 |
| V/L | 20037 |
Fn3-33 |
61 | rs749438176 |
0.6257 | 0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | gnomAD-4.0.0 | 2.56368E-06 | None | None | None | None | N | None | 3.38639E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 20233 |
Fn3-34 |
63 | rs1434582972 |
0.0883 | -1.669 | 0.001 | N | 0.205 | 0.087 | 0.284539287134 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| I/V | 20233 |
Fn3-34 |
63 | rs1434582972 |
0.0883 | -1.669 | 0.001 | N | 0.205 | 0.087 | 0.284539287134 | gnomAD-4.0.0 | 3.18377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71935E-06 | 0 | 0 |
| V/M | 20332 |
Fn3-35 |
62 | rs961573875 |
0.4345 | -0.333 | 0.997 | N | 0.693 | 0.395 | 0.570128362464 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/M | 20332 |
Fn3-35 |
62 | rs961573875 |
0.4345 | -0.333 | 0.997 | N | 0.693 | 0.395 | 0.570128362464 | gnomAD-4.0.0 | 5.58301E-06 | None | None | None | None | N | None | 1.33576E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78608E-06 | 0 | 0 |
| K/E | 20629 |
Fn3-37 |
61 | None | 0.5998 | None | 0.999 | N | 0.629 | 0.482 | 0.377451072189 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/A | 20730 |
Fn3-38 |
63 | rs752344332 |
0.5707 | -2.418 | 0.046 | N | 0.326 | 0.287 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96104E-04 | None | 0 | 0 | 1.66003E-04 |
| V/A | 20730 |
Fn3-38 |
63 | rs752344332 |
0.5707 | -2.418 | 0.046 | N | 0.326 | 0.287 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/A | 20730 |
Fn3-38 |
63 | rs752344332 |
0.5707 | -2.418 | 0.046 | N | 0.326 | 0.287 | None | gnomAD-4.0.0 | 1.11583E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39099E-06 | 1.42754E-04 | 1.60149E-05 |
| V/I | 20730 |
Fn3-38 |
63 | rs1049072812 |
0.1088 | -0.316 | 0.026 | N | 0.283 | 0.13 | 0.522290170867 | 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/I | 20730 |
Fn3-38 |
63 | rs1049072812 |
0.1088 | -0.316 | 0.026 | N | 0.283 | 0.13 | 0.522290170867 | gnomAD-4.0.0 | 4.10619E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4978E-06 | 1.15955E-05 | 0 |
| V/E | 20925 |
Fn3-39 |
62 | rs755147938 |
0.9868 | -2.252 | 0.988 | D | 0.789 | 0.632 | 0.866241633211 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/E | 20925 |
Fn3-39 |
62 | rs755147938 |
0.9868 | -2.252 | 0.988 | D | 0.789 | 0.632 | 0.866241633211 | gnomAD-4.0.0 | 1.59368E-06 | None | None | None | None | N | None | 0 | 2.29116E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 21025 |
Fn3-40 |
63 | rs369274001 |
0.1201 | -0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-2.1.1 | 6.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.78916E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | 21025 |
Fn3-40 |
63 | rs369274001 |
0.1201 | -0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82298E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 21025 |
Fn3-40 |
63 | rs369274001 |
0.1201 | -0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | 21025 |
Fn3-40 |
63 | rs369274001 |
0.1201 | -0.789 | 0.997 | N | 0.554 | 0.25 | 0.607105422054 | gnomAD-4.0.0 | 1.242E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.24353E-04 | None | 0 | 0 | 0 | 1.10811E-05 | 0 |
| V/I | 21327 |
Fn3-42 |
62 | rs779165086 |
0.0673 | -0.335 | 0.046 | N | 0.181 | 0.098 | 0.380564188046 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| V/I | 21327 |
Fn3-42 |
62 | rs779165086 |
0.0673 | -0.335 | 0.046 | N | 0.181 | 0.098 | 0.380564188046 | gnomAD-4.0.0 | 6.36973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.73164E-05 | 0 |
| V/A | 21428 |
Fn3-43 |
63 | rs1576014979 |
0.7751 | None | 0.958 | N | 0.641 | 0.374 | 0.6554178980150001 | 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 |
| V/A | 21428 |
Fn3-43 |
63 | rs1576014979 |
0.7751 | None | 0.958 | N | 0.641 | 0.374 | 0.6554178980150001 | gnomAD-4.0.0 | 2.56421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39501E-06 | 0 | 2.84657E-05 |
| V/F | 21428 |
Fn3-43 |
63 | None | 0.6492 | None | 0.988 | N | 0.791 | 0.366 | 0.715876910944 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86089E-06 | 0 | 0 |
| V/A | 21621 |
Fn3-44 |
63 | None | 0.4749 | None | 0.052 | N | 0.68 | 0.366 | 0.470318359215 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| V/F | 21621 |
Fn3-44 |
63 | None | 0.4932 | None | 0.317 | N | 0.833 | 0.293 | 0.391000631824 | 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 |
| C/G | 21721 |
Fn3-45 |
63 | rs745497694 |
0.7763 | -2.512 | 1.0 | N | 0.825 | 0.542 | 0.661252799969 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/G | 21721 |
Fn3-45 |
63 | rs745497694 |
0.7763 | -2.512 | 1.0 | N | 0.825 | 0.542 | 0.661252799969 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | N | None | 0 | 2.23704E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | 21721 |
Fn3-45 |
63 | rs745497694 |
0.9849 | -1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.1792E-04 | None | 0 | None | 0 | 7.84E-06 | 0 |
| C/R | 21721 |
Fn3-45 |
63 | rs745497694 |
0.9849 | -1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.76096E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/R | 21721 |
Fn3-45 |
63 | rs745497694 |
0.9849 | -1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-4.0.0 | 9.2981E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00956E-04 | None | 0 | 0 | 4.23903E-06 | 0 | 1.60164E-05 |
| C/Y | 21721 |
Fn3-45 |
63 | rs778573828 |
0.9331 | -1.696 | 1.0 | N | 0.851 | 0.377 | 0.70098588726 | 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 |
| C/Y | 21721 |
Fn3-45 |
63 | rs778573828 |
0.9331 | -1.696 | 1.0 | N | 0.851 | 0.377 | 0.70098588726 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-05 | 0 |
| A/P | 21821 |
Fn3-46 |
65 | None | 0.801 | None | 0.667 | N | 0.838 | 0.339 | 0.344945010812 | gnomAD-4.0.0 | 1.59462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86277E-06 | 0 | 0 |
| A/T | 21821 |
Fn3-46 |
65 | rs2048299727 |
0.14 | None | 0.124 | N | 0.687 | 0.162 | 0.225902525712 | gnomAD-4.0.0 | 1.59462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03269E-05 |
| A/V | 21821 |
Fn3-46 |
65 | rs1398162885 |
0.0691 | None | None | N | 0.293 | 0.118 | 0.119812018005 | 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 |
| A/V | 21821 |
Fn3-46 |
65 | rs1398162885 |
0.0691 | None | None | N | 0.293 | 0.118 | 0.119812018005 | gnomAD-4.0.0 | 6.09034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.22993E-06 | 0 | 0 |
| V/A | 22017 |
Fn3-47 |
62 | None | 0.572 | None | 0.939 | N | 0.639 | 0.391 | 0.507213507908 | gnomAD-4.0.0 | 6.84611E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99831E-07 | 0 | 0 |
| V/M | 22017 |
Fn3-47 |
62 | rs375663566 |
0.5964 | -0.544 | 0.997 | N | 0.713 | 0.462 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 1.294E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| V/M | 22017 |
Fn3-47 |
62 | rs375663566 |
0.5964 | -0.544 | 0.997 | N | 0.713 | 0.462 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | 22017 |
Fn3-47 |
62 | rs375663566 |
0.5964 | -0.544 | 0.997 | N | 0.713 | 0.462 | None | gnomAD-4.0.0 | 2.04618E-05 | None | None | None | None | N | None | 9.35179E-05 | 0 | None | 0 | 0 | None | 0 | 1.64636E-04 | 1.69586E-05 | 2.19703E-05 | 4.80708E-05 |
| A/T | 22117 |
Fn3-48 |
63 | rs727505036 |
0.1736 | -1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-2.1.1 | 1.21494E-04 | None | None | None | None | N | None | 0 | 9.61919E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | 22117 |
Fn3-48 |
63 | rs727505036 |
0.1736 | -1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96954E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 22117 |
Fn3-48 |
63 | rs727505036 |
0.1736 | -1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-4.0.0 | 2.54153E-05 | None | None | None | None | N | None | 0 | 6.33925E-04 | None | 0 | 2.23244E-05 | None | 0 | 0 | 8.47811E-07 | 0 | 1.60169E-05 |
| V/A | 22415 |
Fn3-50 |
62 | rs1289988673 |
0.5812 | -1.627 | 0.165 | N | 0.699 | 0.454 | 0.580021155531 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.53595E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | 22415 |
Fn3-50 |
62 | rs1289988673 |
0.5812 | -1.627 | 0.165 | N | 0.699 | 0.454 | 0.580021155531 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9478E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 22415 |
Fn3-50 |
62 | rs1289988673 |
0.5812 | -1.627 | 0.165 | N | 0.699 | 0.454 | 0.580021155531 | gnomAD-4.0.0 | 6.57851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9478E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 22415 |
Fn3-50 |
62 | rs2047350476 |
0.092 | None | None | N | 0.212 | 0.094 | 0.438913950225 | 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/I | 22415 |
Fn3-50 |
62 | rs2047350476 |
0.092 | None | None | N | 0.212 | 0.094 | 0.438913950225 | gnomAD-4.0.0 | 6.57618E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 22510 |
Fn3-51 |
60 | rs1394859997 |
0.0737 | -1.295 | None | N | 0.193 | 0.113 | 0.0920862733494 | 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 |
| V/I | 22705 |
Fn3-52 |
63 | rs1461683344 |
0.089 | -0.285 | 0.997 | N | 0.54 | 0.236 | 0.647883942074 | 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 |
| V/I | 22705 |
Fn3-52 |
63 | rs1461683344 |
0.089 | -0.285 | 0.997 | N | 0.54 | 0.236 | 0.647883942074 | gnomAD-4.0.0 | 6.36898E-06 | None | None | None | None | N | None | 1.69914E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| V/I | 22903 |
Fn3-54 |
63 | rs754632693 |
0.0903 | 0.101 | 0.773 | N | 0.532 | 0.177 | 0.577700112626 | 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 |
| V/I | 22903 |
Fn3-54 |
63 | rs754632693 |
0.0903 | 0.101 | 0.773 | N | 0.532 | 0.177 | 0.577700112626 | gnomAD-4.0.0 | 4.77643E-06 | None | None | None | None | N | None | 0 | 6.86059E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 23101 |
Fn3-55 |
62 | None | 0.0682 | None | None | N | 0.293 | 0.086 | 0.190952846119 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85963E-06 | 0 | 0 |
| V/I | 23201 |
Fn3-56 |
63 | None | 0.0928 | None | 0.767 | N | 0.235 | 0.154 | 0.42805410278 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | N | None | 5.97907E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 23201 |
Fn3-56 |
63 | None | 0.4537 | None | 0.981 | N | 0.604 | 0.269 | 0.380901646489 | gnomAD-4.0.0 | 6.84274E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| V/D | 23303 |
Fn3-57 |
64 | None | 0.9928 | None | 0.999 | N | 0.854 | 0.713 | 0.816208988277 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.43013E-04 | 0 |
| V/L | 23303 |
Fn3-57 |
64 | None | 0.5511 | None | 0.948 | N | 0.563 | 0.24 | 0.565722134273 | 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/L | 23496 |
Fn3-58 |
62 | None | 0.2099 | None | 0.244 | N | 0.532 | 0.126 | 0.413891365518 | 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/M | 23592 |
Fn3-59 |
61 | rs1404037979 |
0.4086 | -0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/M | 23592 |
Fn3-59 |
61 | rs1404037979 |
0.4086 | -0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | 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 |
| V/M | 23592 |
Fn3-59 |
61 | rs1404037979 |
0.4086 | -0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | gnomAD-4.0.0 | 6.08973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02476E-06 | 0 | 3.40252E-05 |
| A/D | 23788 |
Fn3-60 |
63 | None | 0.9876 | None | 1.0 | N | 0.854 | 0.513 | 0.663271509172 | gnomAD-4.0.0 | 1.59504E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43707E-05 | 0 |
| A/T | 23788 |
Fn3-60 |
63 | rs1709470635 |
0.3929 | None | 1.0 | N | 0.766 | 0.393 | 0.407632638399 | gnomAD-4.0.0 | 4.79479E-06 | None | None | None | None | N | None | 5.97979E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.29628E-05 |
| S/P | 23888 |
Fn3-61 |
63 | None | 0.8808 | None | 0.97 | N | 0.841 | 0.326 | 0.272205846399 | 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/I | 23986 |
Fn3-62 |
63 | rs754373279 |
0.0901 | 0.311 | 0.997 | N | 0.545 | 0.219 | 0.534620942121 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/I | 23986 |
Fn3-62 |
63 | rs754373279 |
0.0901 | 0.311 | 0.997 | N | 0.545 | 0.219 | 0.534620942121 | gnomAD-4.0.0 | 1.16334E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.60236E-03 | 1.79914E-06 | 0 | 0 |
| V/L | 23986 |
Fn3-62 |
63 | rs754373279 |
0.557 | 0.309 | 0.997 | N | 0.653 | 0.315 | 0.438806408302 | 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/L | 23986 |
Fn3-62 |
63 | rs754373279 |
0.557 | 0.309 | 0.997 | N | 0.653 | 0.315 | 0.438806408302 | gnomAD-4.0.0 | 4.10592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 2.31884E-05 | 3.31389E-05 |
| V/G | 24184 |
Fn3-63 |
63 | None | 0.8419 | None | 0.89 | D | 0.783 | 0.557 | 0.824973454226 | gnomAD-4.0.0 | 1.48974E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.89278E-06 | 0 | 0 |
| V/I | 24184 |
Fn3-63 |
63 | None | 0.0968 | None | 0.656 | N | 0.541 | 0.179 | 0.409533910539 | gnomAD-4.0.0 | 1.95044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3743E-06 | 0 | 0 |
| V/L | 24284 |
Fn3-64 |
63 | rs755011962 |
0.5538 | -0.163 | 0.973 | N | 0.665 | 0.266 | 0.575147286571 | gnomAD-2.1.1 | 4.27E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.82E-05 | 0 | 0 |
| V/L | 24284 |
Fn3-64 |
63 | rs755011962 |
0.5538 | -0.163 | 0.973 | N | 0.665 | 0.266 | 0.575147286571 | gnomAD-4.0.0 | 1.6398E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.90121E-05 | 0 | 0 | 0 | 0 |
| I/V | 24386 |
Fn3-65 |
64 | rs780995546 |
0.0765 | -0.824 | 0.598 | N | 0.386 | 0.164 | 0.446913017954 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 1.16272E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66667E-04 |
| I/V | 24386 |
Fn3-65 |
64 | rs780995546 |
0.0765 | -0.824 | 0.598 | N | 0.386 | 0.164 | 0.446913017954 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.61883E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 24386 |
Fn3-65 |
64 | rs780995546 |
0.0765 | -0.824 | 0.598 | N | 0.386 | 0.164 | 0.446913017954 | gnomAD-4.0.0 | 1.41029E-05 | None | None | None | None | N | None | 0 | 1.69532E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84706E-05 |
| V/A | 24580 |
Fn3-66 |
62 | rs141005138 |
0.5108 | -2.188 | 0.004 | N | 0.355 | 0.334 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29282E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 24580 |
Fn3-66 |
62 | rs141005138 |
0.5108 | -2.188 | 0.004 | N | 0.355 | 0.334 | 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/A | 24580 |
Fn3-66 |
62 | rs141005138 |
0.5108 | -2.188 | 0.004 | N | 0.355 | 0.334 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | 24580 |
Fn3-66 |
62 | rs141005138 |
0.5108 | -2.188 | 0.004 | N | 0.355 | 0.334 | None | gnomAD-4.0.0 | 6.19933E-06 | None | None | None | None | N | None | 9.33085E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54394E-06 | 0 | 0 |
| V/I | 24580 |
Fn3-66 |
62 | rs765510494 |
0.0717 | -0.078 | None | N | 0.179 | 0.106 | 0.319114376414 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/I | 24580 |
Fn3-66 |
62 | rs765510494 |
0.0717 | -0.078 | None | N | 0.179 | 0.106 | 0.319114376414 | 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/N | 24676 |
Fn3-67 |
61 | rs778879302 |
0.9772 | -1.784 | 0.985 | N | 0.829 | 0.542 | 0.858494941766 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | 24676 |
Fn3-67 |
61 | rs778879302 |
0.9351 | -2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | 24676 |
Fn3-67 |
61 | rs778879302 |
0.9351 | -2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | 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 |
| I/T | 24676 |
Fn3-67 |
61 | rs778879302 |
0.9351 | -2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 24870 |
Fn3-68 |
63 | rs768892376 |
0.8839 | -0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | 24870 |
Fn3-68 |
63 | rs768892376 |
0.8839 | -0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| A/P | 24870 |
Fn3-68 |
63 | rs768892376 |
0.8839 | -0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-4.0.0 | 3.71949E-06 | None | None | None | None | N | None | 1.33586E-05 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 2.54327E-06 | 0 | 1.60185E-05 |
| A/S | 24870 |
Fn3-68 |
63 | rs768892376 |
0.277 | -1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | 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 |
| A/S | 24870 |
Fn3-68 |
63 | rs768892376 |
0.277 | -1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | 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 |
| A/S | 24870 |
Fn3-68 |
63 | rs768892376 |
0.277 | -1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | gnomAD-4.0.0 | 3.71949E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08655E-06 | 0 | 0 |
| A/V | 24870 |
Fn3-68 |
63 | None | 0.0884 | None | 0.204 | N | 0.401 | 0.282 | 0.202949470691 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85959E-06 | 0 | 0 |
| T/I | 24970 |
Fn3-69 |
63 | rs779917922 |
0.2207 | 0.64 | 0.016 | N | 0.515 | 0.156 | 0.176091768786 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | 25068 |
Fn3-70 |
63 | None | 0.1155 | None | 0.997 | N | 0.553 | 0.236 | 0.546824882953 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
| V/G | 25266 |
Fn3-71 |
63 | rs1707719104 |
0.8228 | None | 0.949 | D | 0.849 | 0.62 | 0.906587316063 | 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 |
| V/G | 25266 |
Fn3-71 |
63 | rs1707719104 |
0.8228 | None | 0.949 | D | 0.849 | 0.62 | 0.906587316063 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| V/I | 25266 |
Fn3-71 |
63 | rs1389153424 |
0.0896 | -0.556 | 0.014 | N | 0.197 | 0.06 | 0.277317399466 | 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 |
| V/I | 25266 |
Fn3-71 |
63 | rs1389153424 |
0.0896 | -0.556 | 0.014 | N | 0.197 | 0.06 | 0.277317399466 | gnomAD-4.0.0 | 1.36884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79918E-06 | 0 | 0 |
| V/I | 25366 |
Fn3-72 |
63 | None | 0.1159 | None | 0.767 | N | 0.255 | 0.174 | 0.429435026966 | 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/L | 25366 |
Fn3-72 |
63 | rs571834965 |
0.657 | -0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | 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/L | 25366 |
Fn3-72 |
63 | rs571834965 |
0.657 | -0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| V/L | 25366 |
Fn3-72 |
63 | rs571834965 |
0.657 | -0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/L | 25366 |
Fn3-72 |
63 | rs571834965 |
0.657 | -0.463 | 0.981 | N | 0.624 | 0.292 | 0.388970301349 | gnomAD-4.0.0 | 2.02984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.39673E-05 | 0 |
| V/A | 25468 |
Fn3-73 |
64 | None | 0.3174 | None | 0.006 | N | 0.319 | 0.248 | 0.428169733428 | gnomAD-4.0.0 | 1.59256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-06 | 0 | 0 |
| V/L | 25468 |
Fn3-73 |
64 | rs200308639 |
0.2405 | -0.228 | 0.068 | N | 0.631 | 0.183 | 0.265929055128 | gnomAD-2.1.1 | 7.16E-05 | None | None | None | None | N | None | 7.44971E-04 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | 25468 |
Fn3-73 |
64 | rs200308639 |
0.2405 | -0.228 | 0.068 | N | 0.631 | 0.183 | 0.265929055128 | gnomAD-3.1.2 | 1.57832E-04 | None | None | None | None | N | None | 5.79402E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 25468 |
Fn3-73 |
64 | rs200308639 |
0.2405 | -0.228 | 0.068 | N | 0.631 | 0.183 | 0.265929055128 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/L | 25468 |
Fn3-73 |
64 | rs200308639 |
0.2405 | -0.228 | 0.068 | N | 0.631 | 0.183 | 0.265929055128 | gnomAD-4.0.0 | 2.04562E-05 | None | None | None | None | N | None | 3.73313E-04 | 3.336E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80446E-05 |
| I/N | 25662 |
Fn3-74 |
62 | None | 0.9128 | None | 0.939 | D | 0.838 | 0.534 | 0.858602885114 | gnomAD-4.0.0 | 6.84385E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99641E-07 | 0 | 0 |
| I/T | 25662 |
Fn3-74 |
62 | None | 0.4174 | None | 0.684 | N | 0.78 | 0.492 | 0.677526534183 | gnomAD-4.0.0 | 6.84385E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16017E-05 | 0 |
| I/V | 25662 |
Fn3-74 |
62 | None | 0.0762 | None | 0.003 | N | 0.195 | 0.078 | 0.44711355012 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86E-06 | 0 | 0 |
| I/V | 25758 |
Fn3-75 |
61 | None | 0.0896 | None | 0.002 | N | 0.2 | 0.071 | 0.345175991111 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| V/A | 25952 |
Fn3-76 |
63 | None | 0.4825 | None | 0.998 | D | 0.637 | 0.437 | 0.60773865089 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85922E-06 | 0 | 0 |
| A/V | 26052 |
Fn3-77 |
63 | rs1706569332 |
0.0726 | None | None | N | 0.299 | 0.071 | 0.107399877778 | gnomAD-4.0.0 | 3.18371E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.55093E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 26150 |
Fn3-78 |
63 | rs748589083 |
0.6449 | -1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.84E-05 | None | 0 | 0 | 0 |
| V/A | 26150 |
Fn3-78 |
63 | rs748589083 |
0.6449 | -1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| V/A | 26150 |
Fn3-78 |
63 | rs748589083 |
0.6449 | -1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-4.0.0 | 3.10143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48326E-07 | 3.29721E-05 | 1.60287E-05 |
| V/M | 26150 |
Fn3-78 |
63 | None | 0.6424 | None | 1.0 | N | 0.726 | 0.409 | 0.602559457607 | gnomAD-4.0.0 | 1.59534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43521E-05 | 0 |
| V/A | 26348 |
Fn3-79 |
63 | rs1341655578 |
0.6734 | -2.228 | 0.581 | D | 0.653 | 0.415 | 0.564579235405 | 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 |
| V/A | 26348 |
Fn3-79 |
63 | rs1341655578 |
0.6734 | -2.228 | 0.581 | D | 0.653 | 0.415 | 0.564579235405 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69876E-06 | 0 | 0 |
| V/G | 26448 |
Fn3-80 |
63 | rs1553590427 |
0.8966 | None | 1.0 | D | 0.79 | 0.702 | 0.928233509922 | gnomAD-4.0.0 | 3.42193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49762E-06 | 0 | 0 |
| V/M | 26448 |
Fn3-80 |
63 | rs1380054566 |
0.6635 | -0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/M | 26448 |
Fn3-80 |
63 | rs1380054566 |
0.6635 | -0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | 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 |
| V/M | 26448 |
Fn3-80 |
63 | rs1380054566 |
0.6635 | -0.519 | 1.0 | D | 0.687 | 0.38 | 0.532311620844 | gnomAD-4.0.0 | 2.85135E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.8993E-05 | 0 | 0 |
| I/T | 26550 |
Fn3-81 |
64 | None | 0.8763 | None | 0.822 | N | 0.76 | 0.483 | 0.679538700149 | 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 | 26744 |
Fn3-82 |
62 | None | 0.4312 | None | 0.097 | N | 0.355 | 0.429 | 0.524584940466 | 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/G | 26840 |
Fn3-83 |
61 | None | 0.8471 | None | 0.781 | D | 0.823 | 0.554 | 0.742137632746 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 26840 |
Fn3-83 |
61 | rs373144782 |
0.0773 | -0.364 | 0.002 | N | 0.207 | 0.059 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 26840 |
Fn3-83 |
61 | rs373144782 |
0.0773 | -0.364 | 0.002 | N | 0.207 | 0.059 | None | 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 |
| V/I | 26840 |
Fn3-83 |
61 | rs373144782 |
0.0773 | -0.364 | 0.002 | N | 0.207 | 0.059 | None | gnomAD-4.0.0 | 3.84438E-06 | None | None | None | None | N | None | 5.07734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | 27034 |
Fn3-84 |
63 | None | 0.1669 | None | 0.171 | N | 0.659 | 0.183 | 0.389596023526 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| T/I | 27134 |
Fn3-85 |
63 | None | 0.1479 | None | 0.124 | N | 0.755 | 0.167 | 0.213573922156 | gnomAD-4.0.0 | 6.84497E-07 | None | None | None | None | N | None | 2.98918E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 27232 |
Fn3-86 |
63 | None | 0.4875 | None | 0.978 | N | 0.679 | 0.406 | 0.608695890411 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| V/M | 27232 |
Fn3-86 |
63 | rs2154162679 |
0.6427 | None | 0.994 | D | 0.693 | 0.374 | 0.605774515499 | gnomAD-4.0.0 | 1.59378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86193E-06 | 0 | 0 |
| V/I | 27531 |
Fn3-88 |
63 | rs1190495036 |
0.1253 | None | 0.98 | N | 0.576 | 0.259 | 0.478527412683 | 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 |
| V/I | 27531 |
Fn3-88 |
63 | rs1190495036 |
0.1253 | None | 0.98 | N | 0.576 | 0.259 | 0.478527412683 | gnomAD-4.0.0 | 2.56227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78634E-06 | 0 | 0 |
| V/L | 27531 |
Fn3-88 |
63 | rs1190495036 |
0.6215 | -0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | 27531 |
Fn3-88 |
63 | rs1190495036 |
0.6215 | -0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | 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 |
| V/L | 27531 |
Fn3-88 |
63 | rs1190495036 |
0.6215 | -0.434 | 0.91 | N | 0.679 | 0.257 | 0.508223314113 | gnomAD-4.0.0 | 2.56227E-06 | None | None | None | None | N | None | 0 | 3.38972E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 27827 |
Fn3-90 |
62 | None | 0.2664 | None | 0.549 | N | 0.765 | 0.435 | 0.649176532554 | gnomAD-4.0.0 | 1.62714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89631E-05 | 0 | 0 | 0 | 0 |
| I/L | 27923 |
Fn3-91 |
61 | rs778728899 |
0.1831 | -0.743 | 0.011 | N | 0.528 | 0.071 | 0.136095386433 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| I/L | 27923 |
Fn3-91 |
61 | rs778728899 |
0.1831 | -0.743 | 0.011 | N | 0.528 | 0.071 | 0.136095386433 | gnomAD-4.0.0 | 6.85695E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52283E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | 27923 |
Fn3-91 |
61 | rs1704000371 |
0.2879 | None | 0.632 | N | 0.673 | 0.315 | 0.513226221338 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| I/M | 27923 |
Fn3-91 |
61 | rs1704000371 |
0.2879 | None | 0.632 | N | 0.673 | 0.315 | 0.513226221338 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| I/T | 27923 |
Fn3-91 |
61 | rs757118021 |
0.8444 | -1.917 | 0.004 | N | 0.524 | 0.358 | None | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.37E-05 | 0 |
| I/T | 27923 |
Fn3-91 |
61 | rs757118021 |
0.8444 | -1.917 | 0.004 | N | 0.524 | 0.358 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| I/T | 27923 |
Fn3-91 |
61 | rs757118021 |
0.8444 | -1.917 | 0.004 | N | 0.524 | 0.358 | None | gnomAD-4.0.0 | 1.28596E-05 | None | None | None | None | N | None | 1.69503E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91923E-05 | 1.35322E-05 | 0 |
| I/V | 27923 |
Fn3-91 |
61 | rs778728899 |
0.0627 | -1.132 | None | N | 0.213 | 0.132 | 0.159798565429 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| I/V | 27923 |
Fn3-91 |
61 | rs778728899 |
0.0627 | -1.132 | None | N | 0.213 | 0.132 | 0.159798565429 | gnomAD-4.0.0 | 1.37139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80084E-06 | 0 | 0 |
| I/T | 28116 |
Fn3-92 |
62 | rs1468127080 |
0.348 | -2.815 | 0.081 | N | 0.686 | 0.317 | 0.68992488544 | 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 | 28116 |
Fn3-92 |
62 | rs1468127080 |
0.348 | -2.815 | 0.081 | N | 0.686 | 0.317 | 0.68992488544 | 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/T | 28116 |
Fn3-92 |
62 | rs1468127080 |
0.348 | -2.815 | 0.081 | N | 0.686 | 0.317 | 0.68992488544 | gnomAD-4.0.0 | 5.57783E-06 | None | None | None | None | N | None | 1.33465E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.7812E-06 | 0 | 0 |
| V/A | 28216 |
Fn3-93 |
63 | None | 0.4493 | None | 0.989 | N | 0.661 | 0.374 | 0.628255493996 | 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 | 28314 |
Fn3-94 |
63 | rs1442636431 |
0.5459 | -2.116 | 0.998 | N | 0.625 | 0.477 | 0.671977266625 | 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/A | 28314 |
Fn3-94 |
63 | rs1442636431 |
0.5459 | -2.116 | 0.998 | N | 0.625 | 0.477 | 0.671977266625 | gnomAD-4.0.0 | 1.36862E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| V/E | 28314 |
Fn3-94 |
63 | rs1442636431 |
0.9687 | None | 1.0 | D | 0.828 | 0.674 | 0.866447684979 | gnomAD-4.0.0 | 6.84309E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52385E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 28314 |
Fn3-94 |
63 | rs754089695 |
0.1244 | -0.096 | 0.767 | N | 0.238 | 0.135 | 0.552900881131 | 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/I | 28314 |
Fn3-94 |
63 | rs754089695 |
0.1244 | -0.096 | 0.767 | N | 0.238 | 0.135 | 0.552900881131 | gnomAD-4.0.0 | 5.47458E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19567E-06 | 0 | 0 |
| V/A | 28512 |
Fn3-95 |
63 | rs1018186238 |
0.4651 | None | 0.977 | D | 0.651 | 0.442 | 0.602375283534 | 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/A | 28512 |
Fn3-95 |
63 | rs1018186238 |
0.4651 | None | 0.977 | D | 0.651 | 0.442 | 0.602375283534 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 28512 |
Fn3-95 |
63 | rs764706572 |
0.09 | -0.587 | 0.117 | N | 0.243 | 0.091 | 0.324436698001 | 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 | 28512 |
Fn3-95 |
63 | rs764706572 |
0.09 | -0.587 | 0.117 | N | 0.243 | 0.091 | 0.324436698001 | 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 |
| V/L | 29199 |
Fn3-100 |
63 | None | 0.3332 | None | 0.031 | N | 0.409 | 0.054 | 0.496693547531 | 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 | 29299 |
Fn3-101 |
63 | rs1001499509 |
0.4684 | None | 0.998 | N | 0.619 | 0.405 | 0.626601018324 | gnomAD-4.0.0 | 1.59097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85771E-06 | 0 | 0 |
| I/T | 29397 |
Fn3-102 |
63 | rs1475393277 |
0.4711 | None | 0.012 | N | 0.644 | 0.411 | 0.664245949781 | 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/T | 29397 |
Fn3-102 |
63 | rs1475393277 |
0.4711 | None | 0.012 | N | 0.644 | 0.411 | 0.664245949781 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| I/V | 29397 |
Fn3-102 |
63 | rs1701748367 |
0.0644 | None | None | N | 0.167 | 0.127 | 0.337135696972 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99526E-07 | 1.15937E-05 | 0 |
| T/N | 29595 |
Fn3-103 |
63 | rs1575546136 |
0.3858 | None | 0.995 | N | 0.782 | 0.325 | 0.417081434665 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 29797 |
Fn3-105 |
64 | None | 0.3781 | None | 0.543 | N | 0.334 | 0.282 | 0.574298552393 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | 29797 |
Fn3-105 |
64 | rs1431345773 |
0.9049 | -1.306 | 0.998 | D | 0.807 | 0.652 | 0.840856541103 | 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 |
| V/E | 29797 |
Fn3-105 |
64 | rs1431345773 |
0.9049 | -1.306 | 0.998 | D | 0.807 | 0.652 | 0.840856541103 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| L/P | 29994 |
Fn3-106 |
62 | rs1334681258 |
0.8328 | -1.327 | 0.741 | N | 0.845 | 0.442 | 0.684753540027 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| L/P | 29994 |
Fn3-106 |
62 | rs1334681258 |
0.8328 | -1.327 | 0.741 | N | 0.845 | 0.442 | 0.684753540027 | 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/P | 29994 |
Fn3-106 |
62 | rs1334681258 |
0.8328 | -1.327 | 0.741 | N | 0.845 | 0.442 | 0.684753540027 | gnomAD-4.0.0 | 3.84359E-06 | None | None | None | None | N | None | 0 | 1.6952E-05 | None | 0 | 0 | None | 0 | 0 | 2.39284E-06 | 0 | 2.84382E-05 |
| V/I | 30090 |
Fn3-107 |
61 | rs759865479 |
0.0755 | 0.141 | 0.001 | N | 0.189 | 0.07 | 0.287603790349 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11483E-04 | None | 0 | None | 0 | 0 | 0 |
| V/I | 30090 |
Fn3-107 |
61 | rs759865479 |
0.0755 | 0.141 | 0.001 | N | 0.189 | 0.07 | 0.287603790349 | gnomAD-4.0.0 | 4.7892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39655E-06 | 0 | 1.65645E-05 |
| V/F | 30286 |
Fn3-108 |
63 | None | 0.6885 | None | 0.782 | N | 0.817 | 0.403 | 0.78712903431 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-07 | 0 | 0 |
| A/G | 30386 |
Fn3-109 |
63 | None | 0.2546 | None | 0.211 | N | 0.643 | 0.136 | 0.270447802918 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 30386 |
Fn3-109 |
63 | None | 0.1003 | None | 0.027 | N | 0.583 | 0.076 | 0.29385284311 | gnomAD-4.0.0 | 2.40066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| A/D | 30681 |
Fn3-111 |
63 | rs201400267 |
0.9675 | -2.142 | 0.982 | N | 0.833 | 0.267 | None | gnomAD-2.1.1 | 1.78447E-04 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 1.9984E-04 | 3.20117E-04 | 1.40371E-04 |
| A/D | 30681 |
Fn3-111 |
63 | rs201400267 |
0.9675 | -2.142 | 0.982 | N | 0.833 | 0.267 | None | gnomAD-3.1.2 | 2.43152E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 1.88395E-04 | 0 | 4.70422E-04 | 0 | 0 |
| A/D | 30681 |
Fn3-111 |
63 | rs201400267 |
0.9675 | -2.142 | 0.982 | N | 0.833 | 0.267 | None | gnomAD-4.0.0 | 4.21395E-04 | None | None | None | None | N | None | 9.3453E-05 | 5.001E-05 | None | 0 | 0 | None | 1.4059E-04 | 0 | 5.45868E-04 | 0 | 2.72174E-04 |
| V/I | 30883 |
Fn3-113 |
63 | None | 0.1005 | None | 0.008 | N | 0.362 | 0.066 | 0.37281450598 | 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/I | 31173 |
Fn3-115 |
61 | rs1440743167 |
0.0844 | 0.027 | 0.026 | N | 0.275 | 0.07 | 0.361758802978 | 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 |
| V/L | 31370 |
Fn3-116 |
63 | rs568049899 |
0.732 | -0.398 | 0.114 | N | 0.582 | 0.131 | 0.413761986042 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 31370 |
Fn3-116 |
63 | rs568049899 |
0.732 | -0.398 | 0.114 | N | 0.582 | 0.131 | 0.413761986042 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/L | 31370 |
Fn3-116 |
63 | rs568049899 |
0.732 | -0.398 | 0.114 | N | 0.582 | 0.131 | 0.413761986042 | gnomAD-4.0.0 | 6.56685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 31571 |
Fn3-118 |
66 | rs140081451 |
0.842 | -0.255 | 0.989 | D | 0.719 | 0.418 | 0.57803241275 | 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 |
| V/M | 31571 |
Fn3-118 |
66 | rs140081451 |
0.842 | -0.255 | 0.989 | D | 0.719 | 0.418 | 0.57803241275 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/M | 31571 |
Fn3-118 |
66 | rs140081451 |
0.842 | -0.255 | 0.989 | D | 0.719 | 0.418 | 0.57803241275 | gnomAD-4.0.0 | 2.04487E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22856E-05 | None | 0 | 0 | 2.71241E-05 | 0 | 0 |
| V/F | 31769 |
Fn3-119 |
62 | None | 0.5945 | None | 0.998 | N | 0.814 | 0.438 | 0.811294113689 | gnomAD-4.0.0 | 6.84196E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9946E-07 | 0 | 0 |
| V/I | 31769 |
Fn3-119 |
62 | rs374445709 |
0.0903 | -0.089 | 0.982 | N | 0.609 | 0.212 | None | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 2.05065E-04 | None | 9.8E-05 | None | 0 | 3.13E-05 | 0 |
| V/I | 31769 |
Fn3-119 |
62 | rs374445709 |
0.0903 | -0.089 | 0.982 | N | 0.609 | 0.212 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 9.65E-05 | 6.55E-05 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | 31769 |
Fn3-119 |
62 | rs374445709 |
0.0903 | -0.089 | 0.982 | N | 0.609 | 0.212 | None | gnomAD-4.0.0 | 1.73513E-05 | None | None | None | None | N | None | 6.67468E-05 | 1.66717E-05 | None | 0 | 8.91544E-05 | None | 0 | 0 | 1.27141E-05 | 2.19578E-05 | 1.60113E-05 |
| V/M | 31972 |
Fn3-121 |
64 | rs745900975 |
0.3509 | 0.041 | 0.999 | N | 0.703 | 0.419 | 0.552408913969 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/M | 31972 |
Fn3-121 |
64 | rs745900975 |
0.3509 | 0.041 | 0.999 | N | 0.703 | 0.419 | 0.552408913969 | gnomAD-4.0.0 | 6.36568E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.10939E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 32166 |
Fn3-122 |
62 | rs746467659 |
0.1117 | -1.091 | 0.006 | N | 0.185 | 0.056 | 0.485275477626 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.08261E-04 | None | 0 | None | 0 | 0 | 0 |
| I/V | 32166 |
Fn3-122 |
62 | rs746467659 |
0.1117 | -1.091 | 0.006 | N | 0.185 | 0.056 | 0.485275477626 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 32166 |
Fn3-122 |
62 | rs746467659 |
0.1117 | -1.091 | 0.006 | N | 0.185 | 0.056 | 0.485275477626 | gnomAD-4.0.0 | 2.5622E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85084E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 32264 |
Fn3-123 |
63 | None | 0.075 | None | 0.004 | N | 0.203 | 0.106 | 0.412715890961 | gnomAD-4.0.0 | 6.8424E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99522E-07 | 0 | 0 |
| S/P | 32561 |
Fn3-125 |
63 | None | 0.9738 | None | 0.997 | N | 0.769 | 0.506 | 0.366466682447 | gnomAD-4.0.0 | 1.36989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99996E-07 | 0 | 1.65887E-05 |
| V/I | 32857 |
Fn3-127 |
63 | rs1472412628 |
0.1279 | 0.185 | 0.997 | N | 0.548 | 0.233 | 0.555827534791 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 32857 |
Fn3-127 |
63 | rs1472412628 |
0.1279 | 0.185 | 0.997 | N | 0.548 | 0.233 | 0.555827534791 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 32959 |
Fn3-128 |
64 | None | 0.3476 | None | 0.003 | N | 0.289 | 0.122 | 0.336400405673 | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18751E-06 | 0 | 0 |
| I/K | 33060 |
Fn3-129 |
63 | None | 0.6818 | None | 0.317 | N | 0.765 | 0.549 | 0.818101870621 | gnomAD-4.0.0 | 6.84226E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99502E-07 | 0 | 0 |
| I/L | 33060 |
Fn3-129 |
63 | rs142108986 |
0.1131 | 0.014 | 0.002 | N | 0.43 | 0.073 | 0.163833314356 | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 2.06748E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | 33060 |
Fn3-129 |
63 | rs142108986 |
0.1131 | 0.014 | 0.002 | N | 0.43 | 0.073 | 0.163833314356 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93013E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | 33060 |
Fn3-129 |
63 | rs142108986 |
0.1131 | 0.014 | 0.002 | N | 0.43 | 0.073 | 0.163833314356 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/L | 33060 |
Fn3-129 |
63 | rs142108986 |
0.1131 | 0.014 | 0.002 | N | 0.43 | 0.073 | 0.163833314356 | gnomAD-4.0.0 | 1.17735E-05 | None | None | None | None | N | None | 2.39872E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60061E-05 |
| I/R | 33060 |
Fn3-129 |
63 | rs763888823 |
0.587 | None | 0.484 | D | 0.791 | 0.583 | 0.834966523412 | 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 |
| I/R | 33060 |
Fn3-129 |
63 | rs763888823 |
0.587 | None | 0.484 | D | 0.791 | 0.583 | 0.834966523412 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 2.41581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 33060 |
Fn3-129 |
63 | rs763888823 |
0.1614 | None | 0.062 | N | 0.709 | 0.37 | 0.609617904835 | gnomAD-4.0.0 | 2.7369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69851E-06 | 1.15937E-05 | 0 |
| I/V | 33060 |
Fn3-129 |
63 | None | 0.0605 | None | None | N | 0.184 | 0.062 | 0.230578612272 | gnomAD-4.0.0 | 6.84219E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99496E-07 | 0 | 0 |
| I/M | 33353 |
Fn3-130 |
64 | None | 0.3393 | None | 0.994 | N | 0.694 | 0.279 | 0.445410361449 | gnomAD-4.0.0 | 6.84473E-07 | None | None | None | None | N | None | 2.98972E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 33353 |
Fn3-130 |
64 | rs138234724 |
0.8531 | -2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | N | None | 4.57038E-04 | 0 | None | 0 | 0 | None | 0 | None | 4.01E-05 | 0 | 0 |
| I/T | 33353 |
Fn3-130 |
64 | rs138234724 |
0.8531 | -2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-3.1.2 | 1.05133E-04 | None | None | None | None | N | None | 3.85989E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 33353 |
Fn3-130 |
64 | rs138234724 |
0.8531 | -2.678 | 0.961 | N | 0.761 | 0.416 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/T | 33353 |
Fn3-130 |
64 | rs138234724 |
0.8531 | -2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-4.0.0 | 2.60337E-05 | None | None | None | None | N | None | 4.93176E-04 | 1.66856E-05 | None | 0 | 0 | None | 1.56353E-05 | 0 | 2.54328E-06 | 0 | 0 |
| V/A | 33749 |
Fn3-132 |
61 | None | 0.7657 | None | 0.999 | N | 0.659 | 0.463 | 0.773610404518 | 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/G | 33749 |
Fn3-132 |
61 | None | 0.9573 | None | 1.0 | D | 0.843 | 0.692 | 0.88705266108 | 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/M | 33749 |
Fn3-132 |
61 | rs201554140 |
0.7333 | -0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-2.1.1 | 7.92014E-04 | None | None | None | None | N | None | 7.89387E-03 | 2.54525E-04 | None | 0 | 0 | None | 3.27E-05 | None | 1.2001E-04 | 1.2486E-04 | 2.80505E-04 |
| V/M | 33749 |
Fn3-132 |
61 | rs201554140 |
0.7333 | -0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-3.1.2 | 2.01748E-03 | None | None | None | None | N | None | 6.85394E-03 | 4.58295E-04 | 0 | 0 | 0 | None | 1.88466E-04 | 0 | 1.4699E-04 | 0 | 1.91205E-03 |
| V/M | 33749 |
Fn3-132 |
61 | rs201554140 |
0.7333 | -0.177 | 1.0 | N | 0.721 | 0.416 | None | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 5.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | 33749 |
Fn3-132 |
61 | rs201554140 |
0.7333 | -0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-4.0.0 | 4.27539E-04 | None | None | None | None | N | None | 7.30394E-03 | 2.9993E-04 | None | 0 | 4.0107E-04 | None | 9.3794E-05 | 3.29924E-04 | 5.17016E-05 | 4.39155E-05 | 5.28101E-04 |
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.