Structural position:

  • Domain Type: Fn3
  • Aligned Position: 5
  • Secondary Structure Element:
  • Secondary Structure Region:

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/A 15661 Fn3-1 5 rs774091228 0.7264 -2.636 0.999 N 0.797 0.409 0.473143432122 gnomAD-2.1.1 4.04E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
P/A 15762 Fn3-2 5 None 0.7722 None 1.0 D 0.819 0.663 0.563982556371 gnomAD-4.0.0 6.84865E-07 None None None None N None 0 0 None 0 2.5355E-05 None 0 0 0 0 0
P/S 15762 Fn3-2 5 rs1190086474 0.9756 -2.822 1.0 D 0.866 0.745 0.607610696475 gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.8E-05 0
P/S 15762 Fn3-2 5 rs1190086474 0.9756 -2.822 1.0 D 0.866 0.745 0.607610696475 gnomAD-4.0.0 7.53351E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89983E-06 0 0
P/H 16059 Fn3-4 5 None 0.994 None 1.0 D 0.889 0.769 0.74081485506 gnomAD-4.0.0 1.59465E-06 None None None None N None 0 0 None 0 2.78707E-05 None 0 0 0 0 0
P/L 16059 Fn3-4 5 rs2057387572 0.7654 None 1.0 D 0.923 0.77 0.835635117845 gnomAD-3.1.2 6.6E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
P/L 16059 Fn3-4 5 rs2057387572 0.7654 None 1.0 D 0.923 0.77 0.835635117845 gnomAD-4.0.0 6.5957E-06 None None None None N None 2.42166E-05 0 None 0 0 None 0 0 0 0 0
P/S 16059 Fn3-4 5 None 0.939 None 1.0 D 0.894 0.773 0.655933709859 gnomAD-4.0.0 1.36966E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80007E-06 0 0
P/T 16059 Fn3-4 5 None 0.8248 None 1.0 D 0.883 0.774 0.676953639617 gnomAD-4.0.0 6.84832E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00035E-07 0 0
P/L 16159 Fn3-5 5 rs1238178074 0.9492 None 1.0 D 0.906 0.724 0.786332706246 gnomAD-4.0.0 1.36985E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.32288E-05 0
P/R 16159 Fn3-5 5 rs1238178074 0.9978 -1.646 1.0 D 0.934 0.772 0.699609318542 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
P/R 16159 Fn3-5 5 rs1238178074 0.9978 -1.646 1.0 D 0.934 0.772 0.699609318542 gnomAD-4.0.0 6.84927E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00263E-07 0 0
P/S 16355 Fn3-6 5 rs762930123 0.9826 -3.06 1.0 D 0.876 0.785 0.669445274559 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9E-06 0
P/S 16355 Fn3-6 5 rs762930123 0.9826 -3.06 1.0 D 0.876 0.785 0.669445274559 gnomAD-4.0.0 2.73867E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59943E-06 0 0
P/T 16355 Fn3-6 5 rs762930123 0.9309 None 1.0 D 0.867 0.781 0.69687350262 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
P/T 16355 Fn3-6 5 rs762930123 0.9309 None 1.0 D 0.867 0.781 0.69687350262 gnomAD-4.0.0 1.86064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54415E-06 0 0
P/Q 16454 Fn3-7 5 None 0.9978 None 1.0 D 0.869 0.601 0.647047692233 gnomAD-4.0.0 1.60554E-06 None None None None N None 0 0 None 0 2.78365E-05 None 0 0 0 0 0
P/R 16555 Fn3-8 5 rs2056634324 0.994 None 0.999 D 0.883 0.754 0.802521860083 gnomAD-4.0.0 1.23245E-05 None None None None N None 0 0 None 0 0 None 0 0 1.61981E-05 0 0
P/S 16555 Fn3-8 5 rs373572207 0.9726 None 0.79 D 0.689 0.713 0.597153157781 gnomAD-4.0.0 6.84689E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99892E-07 0 0
P/T 16555 Fn3-8 5 rs373572207 0.9489 -2.492 0.995 D 0.787 0.729 None 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
P/T 16555 Fn3-8 5 rs373572207 0.9489 -2.492 0.995 D 0.787 0.729 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 5.89E-05 0 0
P/T 16555 Fn3-8 5 rs373572207 0.9489 -2.492 0.995 D 0.787 0.729 None gnomAD-4.0.0 2.35667E-05 None None None None N None 0 0 None 0 0 None 0 0 3.13776E-05 0 1.60339E-05
P/T 16655 Fn3-9 5 rs794729449 0.9815 None 1.0 D 0.869 0.783 0.760836599884 gnomAD-4.0.0 6.85852E-07 None None None None N None 0 0 None 0 2.5391E-05 None 0 0 0 0 0
P/R 16755 Fn3-10 5 rs770404461 0.9972 -1.728 1.0 D 0.933 0.578 0.753793968825 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 5.72E-05 None 0 None 0 0 0
P/R 16755 Fn3-10 5 rs770404461 0.9972 -1.728 1.0 D 0.933 0.578 0.753793968825 gnomAD-4.0.0 1.59755E-06 None None None None N None 0 0 None 0 2.79908E-05 None 0 0 0 0 0
P/S 16755 Fn3-10 5 None 0.9921 None 1.0 D 0.877 0.587 0.660835337401 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
P/H 16856 Fn3-11 5 rs2056345177 0.9986 None 1.0 D 0.885 0.526 0.676519919311 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/R 17051 Fn3-12 5 rs781155992 0.9964 -1.361 1.0 N 0.901 0.616 0.733602862534 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/R 17051 Fn3-12 5 rs781155992 0.9964 -1.361 1.0 N 0.901 0.616 0.733602862534 Rees (2021) None MmD comp het with Q32711Lfs*22 None None N Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro None None None None None None None None None None None
C/R 17051 Fn3-12 5 rs781155992 0.9964 -1.361 1.0 N 0.901 0.616 0.733602862534 gnomAD-4.0.0 1.59406E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4339E-05 0
P/L 17151 Fn3-13 5 rs756877904 0.9731 -0.81 1.0 D 0.907 0.725 0.772380336078 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
P/S 17151 Fn3-13 5 rs1203114137 0.9959 -2.965 1.0 D 0.865 0.735 0.6104159791 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
P/S 17151 Fn3-13 5 rs1203114137 0.9959 -2.965 1.0 D 0.865 0.735 0.6104159791 gnomAD-4.0.0 1.37013E-06 None None None None N None 0 0 None 0 2.52678E-05 None 0 0 9.00127E-07 0 0
P/L 17866 Fn3-18 5 rs1220657053 0.9688 -0.772 1.0 D 0.921 0.656 0.858027220711 gnomAD-2.1.1 4.75E-06 None None None None N None 0 0 None 0 6.21E-05 None 0 None 0 0 0
P/L 17866 Fn3-18 5 rs1220657053 0.9688 -0.772 1.0 D 0.921 0.656 0.858027220711 gnomAD-4.0.0 1.79469E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.33356E-05
P/T 17866 Fn3-18 5 rs897867061 0.9676 -2.664 1.0 D 0.875 0.716 0.731806583264 gnomAD-2.1.1 1.42E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3E-05 0
P/T 17866 Fn3-18 5 rs897867061 0.9676 -2.664 1.0 D 0.875 0.716 0.731806583264 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
P/T 17866 Fn3-18 5 rs897867061 0.9676 -2.664 1.0 D 0.875 0.716 0.731806583264 gnomAD-4.0.0 1.12818E-05 None None None None N None 0 0 None 0 0 None 0 0 2.10816E-05 0 0
P/L 18069 Fn3-19 5 rs2054408175 0.9135 None 1.0 D 0.909 0.742 0.701073398044 gnomAD-4.0.0 6.85105E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00236E-07 0 0
P/L 18276 Fn3-21 5 rs971758179 0.9615 -0.621 1.0 D 0.905 0.707 0.809233013941 gnomAD-2.1.1 3.2E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.51E-05 0
P/L 18276 Fn3-21 5 rs971758179 0.9615 -0.621 1.0 D 0.905 0.707 0.809233013941 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
P/L 18276 Fn3-21 5 rs971758179 0.9615 -0.621 1.0 D 0.905 0.707 0.809233013941 gnomAD-4.0.0 1.97796E-06 None None None None N None 0 0 None 0 0 None 0 0 2.64367E-06 0 0
P/R 18276 Fn3-21 5 rs971758179 0.9952 None 1.0 D 0.919 0.745 0.723681508034 gnomAD-4.0.0 4.39586E-06 None None None None N None 0 0 None 0 0 None 0 0 5.624E-06 0 0
P/L 18483 Fn3-22 5 rs1416386473 0.7599 -0.893 0.955 D 0.891 0.735 0.791000362869 gnomAD-2.1.1 4.05E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
P/L 18483 Fn3-22 5 rs1416386473 0.7599 -0.893 0.955 D 0.891 0.735 0.791000362869 gnomAD-4.0.0 2.05585E-06 None None None None N None 5.99413E-05 2.24155E-05 None 0 0 None 0 0 0 0 0
P/S 18483 Fn3-22 5 rs1394478357 0.9402 None 0.997 D 0.853 0.766 0.656181449677 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
P/S 18483 Fn3-22 5 rs1394478357 0.9402 None 0.997 D 0.853 0.766 0.656181449677 gnomAD-4.0.0 2.56966E-06 None None None None N None 0 0 None 0 0 None 0 0 4.80157E-06 0 0
P/L 18583 Fn3-23 5 rs1559684715 0.9503 None 1.0 D 0.893 0.735 0.858361849104 gnomAD-4.0.0 1.84121E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.86428E-05 0
P/S 18788 Fn3-24 5 rs1363268909 0.8896 -2.969 1.0 D 0.853 0.757 0.672450045643 gnomAD-2.1.1 5.24E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.09E-05 0
P/S 18788 Fn3-24 5 rs1363268909 0.8896 -2.969 1.0 D 0.853 0.757 0.672450045643 gnomAD-4.0.0 7.18732E-06 None None None None N None 0 0 None 0 0 None 0 0 1.26072E-05 0 0
P/S 18888 Fn3-25 5 rs755206756 0.8753 -2.841 0.801 D 0.776 0.524 0.466991082792 gnomAD-2.1.1 1.44E-05 None None None None N None 0 1.20077E-04 None 0 0 None 0 None 0 0 0
P/S 18888 Fn3-25 5 rs755206756 0.8753 -2.841 0.801 D 0.776 0.524 0.466991082792 gnomAD-4.0.0 1.41814E-06 None None None None N None 0 5.72377E-05 None 0 0 None 0 0 0 0 0
P/T 18888 Fn3-25 5 None 0.7921 None 0.801 D 0.781 0.532 0.497021753114 gnomAD-4.0.0 7.09071E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.72182E-05
P/L 18992 Fn3-26 5 None 0.2318 None 0.999 D 0.928 0.64 None gnomAD-4.0.0 1.62039E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88211E-06 0 0
P/S 18992 Fn3-26 5 rs878938953 0.2173 None 0.999 D 0.903 0.609 0.599122672276 gnomAD-4.0.0 2.75713E-06 None None None None N None 3.07484E-05 0 None 0 5.07357E-05 None 0 0 0 0 1.66934E-05
V/A 19187 Fn3-27 5 rs1290770653 0.3078 -2.388 0.998 N 0.581 0.333 None gnomAD-2.1.1 4.35E-06 None None None None N None 0 0 None 0 0 None 0 None 4.84E-05 0 0
V/A 19187 Fn3-27 5 rs1290770653 0.3078 -2.388 0.998 N 0.581 0.333 None gnomAD-4.0.0 4.8247E-06 None None None None N None 0 0 None 0 0 None 3.77758E-05 0 2.71061E-06 2.38663E-05 0
V/I 19187 Fn3-27 5 rs764203267 0.1201 -0.487 0.949 N 0.269 0.226 0.389126455913 gnomAD-2.1.1 3.08E-05 None None None None N None 8.79E-05 9.05E-05 None 0 0 None 3.63E-05 None 0 8.5E-06 1.49254E-04
V/I 19187 Fn3-27 5 rs764203267 0.1201 -0.487 0.949 N 0.269 0.226 0.389126455913 gnomAD-3.1.2 7.24E-05 None None None None N None 1.20855E-04 3.93391E-04 0 0 0 None 0 0 0 0 0
V/I 19187 Fn3-27 5 rs764203267 0.1201 -0.487 0.949 N 0.269 0.226 0.389126455913 gnomAD-4.0.0 1.99748E-05 None None None None N None 8.03493E-05 1.71315E-04 None 0 0 None 1.57505E-05 0 7.66421E-06 3.38906E-05 4.83247E-05
P/A 19288 Fn3-28 5 rs1490097960 0.9475 -2.597 1.0 D 0.822 0.643 0.655153318392 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9E-06 0
P/A 19288 Fn3-28 5 rs1490097960 0.9475 -2.597 1.0 D 0.822 0.643 0.655153318392 gnomAD-4.0.0 1.60208E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87848E-06 0 0
P/R 19288 Fn3-28 5 None 0.9984 None 1.0 D 0.941 0.667 0.874349025643 Huang (2021) None Other comp het with K4230Nfs*17 None None N Genetic analysis of NMD patients; variant prioritisation; no validation None None None None None None None None None None None
P/A 19483 Fn3-29 5 rs367624056 0.6104 -2.594 1.0 N 0.82 0.404 None gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
P/A 19483 Fn3-29 5 rs367624056 0.6104 -2.594 1.0 N 0.82 0.404 None 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
P/A 19483 Fn3-29 5 rs367624056 0.6104 -2.594 1.0 N 0.82 0.404 None gnomAD-4.0.0 5.13346E-06 None None None None N None 0 0 None 0 0 None 0 0 9.57992E-06 0 0
P/R 19483 Fn3-29 5 rs1329556229 0.9939 -1.877 1.0 D 0.949 0.58 0.58934274002 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
P/R 19483 Fn3-29 5 rs1329556229 0.9939 -1.877 1.0 D 0.949 0.58 0.58934274002 gnomAD-4.0.0 4.78141E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.3101E-05 0
P/T 19483 Fn3-29 5 None 0.8622 -2.682 1.0 D 0.885 0.547 0.565722134273 gnomAD-2.1.1 4.05E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 0 0
P/T 19483 Fn3-29 5 None 0.8622 -2.682 1.0 D 0.885 0.547 0.565722134273 gnomAD-4.0.0 1.59386E-06 None None None None N None 0 2.29284E-05 None 0 0 None 0 0 0 0 0
P/A 19583 Fn3-30 5 rs758600822 0.6993 -2.131 1.0 D 0.794 0.596 0.706349033832 gnomAD-2.1.1 1.8E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.92E-05 0
P/A 19583 Fn3-30 5 rs758600822 0.6993 -2.131 1.0 D 0.794 0.596 0.706349033832 gnomAD-3.1.2 3.95E-05 None None None None N None 7.25E-05 0 0 0 0 None 0 0 4.41E-05 0 0
P/A 19583 Fn3-30 5 rs758600822 0.6993 -2.131 1.0 D 0.794 0.596 0.706349033832 gnomAD-4.0.0 2.17282E-05 None None None None N None 4.01735E-05 0 None 0 0 None 0 0 2.62878E-05 0 1.60406E-05
P/L 19583 Fn3-30 5 rs1206288937 0.9046 -0.484 1.0 D 0.889 0.618 0.758979986344 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.66E-05 None 0 None 0 0 0
P/L 19583 Fn3-30 5 rs1206288937 0.9046 -0.484 1.0 D 0.889 0.618 0.758979986344 gnomAD-4.0.0 1.59847E-06 None None None None N None 0 0 None 0 2.78816E-05 None 0 0 0 0 0
P/R 19583 Fn3-30 5 rs1206288937 0.9934 -1.59 1.0 D 0.921 0.62 0.810174296794 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
P/R 19583 Fn3-30 5 rs1206288937 0.9934 -1.59 1.0 D 0.921 0.62 0.810174296794 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
P/R 19583 Fn3-30 5 rs1206288937 0.9934 -1.59 1.0 D 0.921 0.62 0.810174296794 gnomAD-4.0.0 2.57196E-06 None None None None N None 0 0 None 0 0 None 0 0 4.79246E-06 0 0
P/H 19684 Fn3-31 5 None 0.9984 None 1.0 D 0.862 0.526 0.707026600127 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
P/S 19684 Fn3-31 5 rs760619849 0.9826 -2.972 1.0 D 0.864 0.557 0.609694075345 gnomAD-2.1.1 3.23E-05 None None None None N None 0 0 None 0 0 None 2.64253E-04 None 0 0 0
P/S 19684 Fn3-31 5 rs760619849 0.9826 -2.972 1.0 D 0.864 0.557 0.609694075345 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
P/S 19684 Fn3-31 5 rs760619849 0.9826 -2.972 1.0 D 0.864 0.557 0.609694075345 gnomAD-4.0.0 1.7364E-05 None None None None N None 0 0 None 0 0 None 0 0 8.47882E-07 2.97435E-04 0
P/H 19881 Fn3-32 5 rs749276384 0.9954 -2.69 0.999 D 0.866 0.616 0.725244559022 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 3.32E-05 None 0 0 0
P/H 19881 Fn3-32 5 rs749276384 0.9954 -2.69 0.999 D 0.866 0.616 0.725244559022 gnomAD-4.0.0 6.85353E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16602E-05 0
P/R 19881 Fn3-32 5 None 0.9931 None 0.996 D 0.857 0.621 0.72322085207 gnomAD-4.0.0 1.37071E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80028E-06 0 0
P/L 19981 Fn3-33 5 None 0.8392 None 1.0 D 0.927 0.565 0.82662405614 gnomAD-4.0.0 1.59822E-06 None None None None N None 0 0 None 0 0 None 0 2.42483E-04 0 0 0
P/L 20175 Fn3-34 5 rs771358314 0.8792 -0.605 1.0 D 0.873 0.619 0.862337548322 gnomAD-2.1.1 4.83E-05 None None None None N None 0 0 None 0 0 None 0 None 0 9.78E-05 1.65837E-04
P/L 20175 Fn3-34 5 rs771358314 0.8792 -0.605 1.0 D 0.873 0.619 0.862337548322 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
P/L 20175 Fn3-34 5 rs771358314 0.8792 -0.605 1.0 D 0.873 0.619 0.862337548322 gnomAD-4.0.0 3.28524E-05 None None None None N None 0 1.668E-05 None 0 0 None 0 1.31579E-03 3.56063E-05 0 3.20287E-05
P/R 20175 Fn3-34 5 None 0.994 None 1.0 D 0.899 0.633 0.770159368578 gnomAD-4.0.0 6.84344E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99609E-07 0 0
P/S 20175 Fn3-34 5 rs774790016 0.9651 -2.83 1.0 D 0.825 0.63 0.705224600542 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
P/S 20175 Fn3-34 5 rs774790016 0.9651 -2.83 1.0 D 0.825 0.63 0.705224600542 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43316E-05 0
P/A 20375 Fn3-36 5 rs1576090518 0.9063 None 1.0 N 0.831 0.526 0.600586691565 gnomAD-4.0.0 4.78043E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.30812E-05 0
P/L 20375 Fn3-36 5 None 0.9706 None 1.0 D 0.923 0.564 0.632073011451 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
C/R 20573 Fn3-37 5 rs780691741 0.9974 -1.522 1.0 N 0.952 0.57 0.768492288142 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
C/R 20573 Fn3-37 5 rs780691741 0.9974 -1.522 1.0 N 0.952 0.57 0.768492288142 gnomAD-4.0.0 2.05336E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69896E-06 0 0
P/A 20672 Fn3-38 5 rs1356638813 0.9087 -2.579 1.0 D 0.802 0.602 0.597069159472 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
P/A 20672 Fn3-38 5 rs1356638813 0.9087 -2.579 1.0 D 0.802 0.602 0.597069159472 gnomAD-4.0.0 1.36861E-06 None None None None N None 0 2.23624E-05 None 0 0 None 0 0 0 0 1.65684E-05
V/G 20868 Fn3-39 5 None 0.9399 None 0.908 N 0.917 0.468 0.628315908551 gnomAD-4.0.0 2.40143E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62584E-06 0 0
V/M 20868 Fn3-39 5 rs371004819 0.86 -1.299 0.83 N 0.854 0.294 None gnomAD-2.1.1 1.62E-05 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 2.67E-05 0
V/M 20868 Fn3-39 5 rs371004819 0.86 -1.299 0.83 N 0.854 0.294 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
V/M 20868 Fn3-39 5 rs371004819 0.86 -1.299 0.83 N 0.854 0.294 None gnomAD-4.0.0 1.11635E-05 None None None None N None 1.3349E-05 0 None 0 0 None 0 0 1.44112E-05 0 0
P/A 20967 Fn3-40 5 None 0.6148 None 1.0 D 0.831 0.551 0.592972149432 gnomAD-4.0.0 1.36872E-06 None None None None N None 0 0 None 0 0 None 0 0 8.9958E-07 1.15955E-05 0
P/R 21068 Fn3-41 5 None 0.9926 None 1.0 D 0.92 0.744 0.81668028202 gnomAD-4.0.0 3.41293E-06 None None None None N None 0 0 None 0 0 None 0 0 6.15547E-06 0 0
V/A 21270 Fn3-42 5 rs770388612 0.4221 -2.432 0.999 N 0.822 0.38 0.461058313273 gnomAD-2.1.1 4.16E-06 None None None None N None 0 0 None 0 0 None 3.35E-05 None 0 0 0
V/A 21270 Fn3-42 5 rs770388612 0.4221 -2.432 0.999 N 0.822 0.38 0.461058313273 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 21270 Fn3-42 5 rs770388612 0.4221 -2.432 0.999 N 0.822 0.38 0.461058313273 gnomAD-4.0.0 4.34837E-06 None None None None N None 0 0 None 0 0 None 0 0 5.09398E-06 1.10397E-05 0
V/M 21270 Fn3-42 5 rs773891427 0.6496 -1.049 1.0 N 0.842 0.383 0.384752662912 gnomAD-2.1.1 4.16E-06 None None None None N None 0 0 None 0 0 None 3.35E-05 None 0 0 0
V/M 21270 Fn3-42 5 rs773891427 0.6496 -1.049 1.0 N 0.842 0.383 0.384752662912 gnomAD-4.0.0 1.60165E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44354E-05 0
P/L 21370 Fn3-43 5 rs2049075418 0.9654 None 1.0 D 0.923 0.551 0.861509126281 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
P/L 21370 Fn3-43 5 rs2049075418 0.9654 None 1.0 D 0.923 0.551 0.861509126281 gnomAD-4.0.0 1.86122E-06 None None None None N None 1.33786E-05 0 None 0 0 None 0 0 1.6963E-06 0 0
P/A 21563 Fn3-44 5 rs72646860 0.8157 -2.258 1.0 D 0.733 0.593 None gnomAD-2.1.1 2.16E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.73E-05 0
P/A 21563 Fn3-44 5 rs72646860 0.8157 -2.258 1.0 D 0.733 0.593 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
P/A 21563 Fn3-44 5 rs72646860 0.8157 -2.258 1.0 D 0.733 0.593 None gnomAD-4.0.0 1.36389E-05 None None None None N None 5.34174E-05 0 None 0 0 None 0 3.29381E-04 1.27173E-05 0 1.60164E-05
P/H 21563 Fn3-44 5 rs751700216 0.9981 -1.832 1.0 D 0.821 0.555 0.847074222452 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
P/H 21563 Fn3-44 5 rs751700216 0.9981 -1.832 1.0 D 0.821 0.555 0.847074222452 gnomAD-4.0.0 6.84533E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16077E-05 0
P/L 21563 Fn3-44 5 rs751700216 0.861 -1.062 1.0 D 0.82 0.538 0.907904393505 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 6.51042E-04 None 0 None 0 0 0
P/L 21563 Fn3-44 5 rs751700216 0.861 -1.062 1.0 D 0.82 0.538 0.907904393505 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93723E-04 None 0 0 0 0 0
P/L 21563 Fn3-44 5 rs751700216 0.861 -1.062 1.0 D 0.82 0.538 0.907904393505 gnomAD-4.0.0 6.57367E-06 None None None None N None 0 0 None 0 1.93723E-04 None 0 0 0 0 0
P/R 21563 Fn3-44 5 None 0.9954 -1.513 1.0 D 0.841 0.558 0.846376825731 gnomAD-2.1.1 8.1E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 8.97E-06 0
P/R 21563 Fn3-44 5 None 0.9954 -1.513 1.0 D 0.841 0.558 0.846376825731 gnomAD-4.0.0 2.0536E-06 None None None None N None 0 2.23814E-05 None 0 0 None 0 0 1.79938E-06 0 0
P/T 21563 Fn3-44 5 None 0.9549 -2.529 1.0 D 0.8 0.582 0.817127349727 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
P/T 21563 Fn3-44 5 None 0.9549 -2.529 1.0 D 0.8 0.582 0.817127349727 gnomAD-4.0.0 3.42249E-06 None None None None N None 0 2.23774E-05 None 0 0 None 0 0 1.79936E-06 0 3.31422E-05
P/S 21663 Fn3-45 5 rs779613133 0.9922 -2.884 1.0 D 0.878 0.681 0.595871345579 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 1.78E-05 0
P/S 21663 Fn3-45 5 rs779613133 0.9922 -2.884 1.0 D 0.878 0.681 0.595871345579 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 4.78011E-04
P/S 21663 Fn3-45 5 rs779613133 0.9922 -2.884 1.0 D 0.878 0.681 0.595871345579 gnomAD-4.0.0 1.61294E-05 None None None None N None 0 1.66984E-05 None 0 0 None 0 0 1.78155E-05 2.19998E-05 3.20544E-05
P/S 21761 Fn3-46 5 rs762680180 0.9892 -2.698 1.0 D 0.838 0.661 0.725415004338 gnomAD-2.1.1 1.98E-05 None None None None N None 0 0 None 0 0 None 1.31085E-04 None 0 1.11E-05 0
P/S 21761 Fn3-46 5 rs762680180 0.9892 -2.698 1.0 D 0.838 0.661 0.725415004338 gnomAD-4.0.0 1.13205E-05 None None None None N None 3.10308E-05 0 None 0 0 None 0 0 5.5346E-06 1.13826E-04 0
P/L 21960 Fn3-47 5 None 0.9108 None 0.025 D 0.775 0.576 0.589785090976 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
P/T 21960 Fn3-47 5 None 0.8846 None 0.967 D 0.827 0.624 0.543299242062 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
C/S 22059 Fn3-48 5 None 0.8237 None 0.078 N 0.461 0.316 0.299086750705 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
P/L 22160 Fn3-49 5 rs777364605 0.9489 -0.456 1.0 D 0.899 0.69 None gnomAD-2.1.1 1.77E-05 None None None None N None 0 0 None 0 0 None 3.6E-05 None 0 2.94E-05 0
P/L 22160 Fn3-49 5 rs777364605 0.9489 -0.456 1.0 D 0.899 0.69 None 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
P/L 22160 Fn3-49 5 rs777364605 0.9489 -0.456 1.0 D 0.899 0.69 None gnomAD-4.0.0 2.19011E-05 None None None None N None 0 3.49357E-05 None 0 0 None 0 0 2.7304E-05 1.12304E-05 0
P/Q 22160 Fn3-49 5 None 0.9973 None 1.0 D 0.864 0.676 0.780957376407 gnomAD-4.0.0 6.91537E-07 None None None None N None 0 0 None 0 0 None 0 0 9.05797E-07 0 0
P/H 22358 Fn3-50 5 rs1256672495 0.9952 -2.571 1.0 D 0.893 0.837 0.88078530331 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
P/H 22358 Fn3-50 5 rs1256672495 0.9952 -2.571 1.0 D 0.893 0.837 0.88078530331 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
P/H 22358 Fn3-50 5 rs1256672495 0.9952 -2.571 1.0 D 0.893 0.837 0.88078530331 gnomAD-4.0.0 4.96058E-06 None None None None N None 0 0 None 0 0 None 0 0 6.78312E-06 0 0
P/L 22358 Fn3-50 5 None 0.8445 None 1.0 D 0.922 0.82 0.920093100234 gnomAD-4.0.0 6.84636E-07 None None None None N None 0 2.23914E-05 None 0 0 None 0 0 0 0 0
V/I 22455 Fn3-51 5 rs759848349 0.1596 -0.212 0.997 N 0.691 0.292 0.559348659643 gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.6E-05 0
V/I 22455 Fn3-51 5 rs759848349 0.1596 -0.212 0.997 N 0.691 0.292 0.559348659643 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
V/I 22455 Fn3-51 5 rs759848349 0.1596 -0.212 0.997 N 0.691 0.292 0.559348659643 gnomAD-4.0.0 1.7978E-05 None None None None N None 0 0 None 0 0 None 0 0 2.45871E-05 0 0
V/L 22455 Fn3-51 5 rs759848349 0.7434 -0.208 0.997 N 0.819 0.353 0.482209950775 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/L 22455 Fn3-51 5 rs759848349 0.7434 -0.208 0.997 N 0.819 0.353 0.482209950775 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/L 22455 Fn3-51 5 rs759848349 0.7434 -0.208 0.997 N 0.819 0.353 0.482209950775 gnomAD-4.0.0 3.09965E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39132E-06 1.0983E-05 0
P/A 22647 Fn3-52 5 None 0.7694 None 0.948 D 0.694 0.613 0.495438931914 gnomAD-4.0.0 1.36876E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31889E-05 0
P/L 22647 Fn3-52 5 None 0.8421 None 0.978 D 0.783 0.64 0.757105107938 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
P/S 22647 Fn3-52 5 rs1451467519 0.9788 -2.771 0.989 D 0.738 0.668 0.576573652137 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
P/S 22647 Fn3-52 5 rs1451467519 0.9788 -2.771 0.989 D 0.738 0.668 0.576573652137 gnomAD-4.0.0 1.50564E-05 None None None None N None 0 0 None 0 0 None 0 0 1.79925E-05 2.31889E-05 0
P/S 23044 Fn3-55 5 rs55980498 0.8199 -2.703 0.957 D 0.716 0.593 None gnomAD-2.1.1 3.64249E-03 None None None None N None 1.53133E-03 1.92897E-03 None 5.81508E-04 0 None 1.60235E-03 None 5.36988E-03 5.44195E-03 4.09142E-03
P/S 23044 Fn3-55 5 rs55980498 0.8199 -2.703 0.957 D 0.716 0.593 None gnomAD-3.1.2 3.61627E-03 None None None None N None 1.3063E-03 1.90739E-03 0 8.65052E-04 0 None 5.57235E-03 3.16456E-03 5.66526E-03 2.29453E-03 3.36215E-03
P/S 23044 Fn3-55 5 rs55980498 0.8199 -2.703 0.957 D 0.716 0.593 None 1000 genomes 9.98403E-04 None None None None N None 1.5E-03 1.4E-03 None None 0 2E-03 None None None 0 None
P/S 23044 Fn3-55 5 rs55980498 0.8199 -2.703 0.957 D 0.716 0.593 None gnomAD-4.0.0 5.1505E-03 None None None None N None 1.21482E-03 2.20338E-03 None 4.05625E-04 2.24065E-05 None 5.89634E-03 9.91408E-04 6.12563E-03 1.91158E-03 4.62933E-03
P/L 23143 Fn3-56 5 rs1371049844 0.8585 -0.715 1.0 D 0.892 0.706 0.922574051033 gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
P/L 23143 Fn3-56 5 rs1371049844 0.8585 -0.715 1.0 D 0.892 0.706 0.922574051033 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
P/L 23143 Fn3-56 5 rs1371049844 0.8585 -0.715 1.0 D 0.892 0.706 0.922574051033 gnomAD-4.0.0 1.02744E-05 None None None None N None 0 0 None 0 0 None 0 0 1.91669E-05 0 0
P/L 23244 Fn3-57 5 rs879056292 0.8921 -0.272 1.0 D 0.899 0.711 0.878013198513 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
P/L 23244 Fn3-57 5 rs879056292 0.8921 -0.272 1.0 D 0.899 0.711 0.878013198513 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
P/L 23244 Fn3-57 5 rs879056292 0.8921 -0.272 1.0 D 0.899 0.711 0.878013198513 gnomAD-4.0.0 1.9125E-06 None None None None N None 0 0 None 0 0 None 0 0 2.57585E-06 0 0
V/A 23439 Fn3-58 5 None 0.426 None 0.963 N 0.683 0.272 0.475506082792 gnomAD-4.0.0 6.8441E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99734E-07 0 0
P/A 23536 Fn3-59 5 None 0.8048 None 1.0 D 0.847 0.735 0.572793788404 gnomAD-4.0.0 1.59146E-06 None None None None N None 0 0 None 0 2.77239E-05 None 0 0 0 0 0
P/S 23730 Fn3-60 5 None 0.9774 None 1.0 D 0.902 0.73 0.717430608715 gnomAD-4.0.0 1.36901E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7993E-06 0 0
P/T 23730 Fn3-60 5 rs1709530947 0.9294 None 1.0 D 0.89 0.71 0.735346534977 gnomAD-4.0.0 6.84504E-07 None None None None N None 0 2.23814E-05 None 0 0 None 0 0 0 0 0
P/S 23928 Fn3-62 5 rs1161952836 0.9773 -2.896 1.0 D 0.854 0.811 0.615303054963 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
P/S 23928 Fn3-62 5 rs1161952836 0.9773 -2.896 1.0 D 0.854 0.811 0.615303054963 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.319E-05 0
P/H 24126 Fn3-63 5 None 0.9869 None 0.999 D 0.912 0.648 0.798961515949 gnomAD-4.0.0 1.66035E-06 None None None None N None 0 0 None 0 0 None 0 0 2.95849E-06 0 0
P/R 24126 Fn3-63 5 rs1277679194 0.9827 None 0.997 D 0.906 0.635 0.797042821937 gnomAD-4.0.0 1.66035E-06 None None None None N None 0 0 None 0 2.79611E-05 None 0 0 0 0 0
P/T 24126 Fn3-63 5 rs1222800053 0.5114 -2.748 0.982 D 0.839 0.661 0.74876033247 gnomAD-2.1.1 4.38E-06 None None None None N None 0 0 None 0 5.83E-05 None 0 None 0 0 0
P/T 24126 Fn3-63 5 rs1222800053 0.5114 -2.748 0.982 D 0.839 0.661 0.74876033247 gnomAD-4.0.0 1.65986E-06 None None None None N None 0 0 None 0 2.79595E-05 None 0 0 0 0 0
P/A 24226 Fn3-64 5 rs774958680 0.633 -2.584 1.0 D 0.809 0.56 0.64355711587 gnomAD-2.1.1 5.76E-06 None None None None N None 0 5.04E-05 None 0 0 None 0 None 0 0 0
P/A 24226 Fn3-64 5 rs774958680 0.633 -2.584 1.0 D 0.809 0.56 0.64355711587 gnomAD-4.0.0 1.88468E-06 None None None None N None 0 3.6622E-05 None 0 0 None 0 0 0 0 0
P/Q 24327 Fn3-65 5 rs748006828 0.9975 -1.857 0.988 D 0.855 0.54 0.686611096917 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
P/Q 24327 Fn3-65 5 rs748006828 0.9975 -1.857 0.988 D 0.855 0.54 0.686611096917 gnomAD-4.0.0 1.59301E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86092E-06 0 0
P/L 24523 Fn3-66 5 None 0.7447 None 1.0 D 0.883 0.802 0.838050535912 gnomAD-4.0.0 1.36869E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79916E-06 0 0
P/Q 24523 Fn3-66 5 rs753557799 0.9928 -2.232 1.0 D 0.876 0.84 0.690387026679 gnomAD-2.1.1 3.22E-05 None None None None N None 0 0 None 0 4.47778E-04 None 0 None 0 0 0
P/Q 24523 Fn3-66 5 rs753557799 0.9928 -2.232 1.0 D 0.876 0.84 0.690387026679 gnomAD-4.0.0 5.47478E-06 None None None None N None 0 0 None 0 1.51446E-04 None 0 0 8.9958E-07 0 1.65706E-05
P/R 24523 Fn3-66 5 None 0.9948 None 1.0 D 0.93 0.817 0.727353067136 gnomAD-4.0.0 1.36869E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79916E-06 0 0
P/T 24523 Fn3-66 5 rs1280513533 0.7487 None 0.998 D 0.835 0.85 0.666698299005 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
P/T 24523 Fn3-66 5 rs1280513533 0.7487 None 0.998 D 0.835 0.85 0.666698299005 gnomAD-4.0.0 1.59198E-06 None None None None N None 0 2.28666E-05 None 0 0 None 0 0 0 0 0
P/L 24620 Fn3-67 5 rs370763285 0.9458 -0.618 1.0 D 0.909 0.661 None gnomAD-2.1.1 3.94E-05 None None None None N None 0 0 None 0 0 None 1.96374E-04 None 0 3.92E-05 0
P/L 24620 Fn3-67 5 rs370763285 0.9458 -0.618 1.0 D 0.909 0.661 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 5.88E-05 0 0
P/L 24620 Fn3-67 5 rs370763285 0.9458 -0.618 1.0 D 0.909 0.661 None gnomAD-4.0.0 5.20773E-05 None None None None N None 0 0 None 0 0 None 0 0 4.74814E-05 2.85614E-04 3.20369E-05
P/Q 24620 Fn3-67 5 None 0.9983 None 1.0 D 0.887 0.68 0.817885983926 gnomAD-4.0.0 6.84499E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99745E-07 0 0
P/S 24620 Fn3-67 5 rs1191890177 0.9898 -2.971 1.0 D 0.868 0.685 0.676786465919 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
P/S 24912 Fn3-69 5 rs376072436 0.9693 -2.766 1.0 D 0.859 0.675 None 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
P/A 25010 Fn3-70 5 rs1239890589 0.8077 -2.269 1.0 D 0.78 0.748 0.564392371781 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
P/A 25010 Fn3-70 5 rs1239890589 0.8077 -2.269 1.0 D 0.78 0.748 0.564392371781 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 2.77454E-05 None 0 0 0 0 0
P/L 25010 Fn3-70 5 rs370712714 0.9576 -0.561 1.0 D 0.906 0.725 0.859516108317 gnomAD-2.1.1 4.03E-05 None None None None N None 0 0 None 0 0 None 3.26968E-04 None 0 0 0
P/L 25010 Fn3-70 5 rs370712714 0.9576 -0.561 1.0 D 0.906 0.725 0.859516108317 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.15282E-04 0
P/L 25010 Fn3-70 5 rs370712714 0.9576 -0.561 1.0 D 0.906 0.725 0.859516108317 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
P/L 25010 Fn3-70 5 rs370712714 0.9576 -0.561 1.0 D 0.906 0.725 0.859516108317 gnomAD-4.0.0 1.61154E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.85539E-04 0
P/R 25010 Fn3-70 5 rs370712714 0.9959 None 1.0 D 0.927 0.754 None gnomAD-4.0.0 4.10608E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49793E-06 0 1.65706E-05
P/S 25010 Fn3-70 5 rs1239890589 0.9859 -2.802 1.0 D 0.857 0.765 0.579204274476 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
P/S 25010 Fn3-70 5 rs1239890589 0.9859 -2.802 1.0 D 0.857 0.765 0.579204274476 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85943E-06 0 0
P/H 25208 Fn3-71 5 rs549335677 0.9928 -2.611 0.999 D 0.921 0.788 0.754827158073 gnomAD-2.1.1 4.04E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
P/H 25208 Fn3-71 5 rs549335677 0.9928 -2.611 0.999 D 0.921 0.788 0.754827158073 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
P/H 25208 Fn3-71 5 rs549335677 0.9928 -2.611 0.999 D 0.921 0.788 0.754827158073 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
P/H 25208 Fn3-71 5 rs549335677 0.9928 -2.611 0.999 D 0.921 0.788 0.754827158073 gnomAD-4.0.0 6.5722E-06 None None None None N None 2.40755E-05 0 None 0 0 None 0 0 0 0 0
P/R 25208 Fn3-71 5 None 0.9902 None 0.989 D 0.907 0.808 0.750271218199 gnomAD-4.0.0 1.59238E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85956E-06 0 0
P/T 25208 Fn3-71 5 rs1484393725 0.6925 None 0.978 D 0.819 0.77 0.759945495233 gnomAD-4.0.0 1.59235E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
P/L 25308 Fn3-72 5 rs776006935 0.8198 -0.847 1.0 D 0.91 0.708 0.802005686957 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
P/L 25308 Fn3-72 5 rs776006935 0.8198 -0.847 1.0 D 0.91 0.708 0.802005686957 gnomAD-4.0.0 6.36791E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14372E-05 0 0
P/A 25409 Fn3-73 5 None 0.7941 None 1.0 D 0.807 0.548 0.628003037427 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85946E-06 0 0
P/L 25409 Fn3-73 5 rs1707518545 0.8943 None 1.0 D 0.911 0.593 0.799283138151 gnomAD-4.0.0 5.47497E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29713E-06 0 1.65717E-05
P/A 25605 Fn3-74 5 rs1471696934 0.4197 -2.555 0.909 D 0.773 0.664 0.51759925163 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
P/A 25605 Fn3-74 5 rs1471696934 0.4197 -2.555 0.909 D 0.773 0.664 0.51759925163 gnomAD-4.0.0 1.59343E-06 None None None None N None 0 0 None 0 2.77393E-05 None 0 0 0 0 0
P/R 25702 Fn3-75 5 None 0.9967 None 1.0 D 0.929 0.76 0.736097903372 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
P/S 25894 Fn3-76 5 None 0.9867 None 1.0 D 0.867 0.674 0.742901043909 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
P/L 25994 Fn3-77 5 rs1375270001 0.9742 -0.436 0.999 D 0.912 0.613 0.915372335003 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
P/L 25994 Fn3-77 5 rs1375270001 0.9742 -0.436 0.999 D 0.912 0.613 0.915372335003 gnomAD-4.0.0 1.02646E-05 None None None None N None 0 0 None 0 0 None 0 0 1.34936E-05 0 0
P/S 25994 Fn3-77 5 None 0.9838 None 0.957 D 0.703 0.626 0.614897173524 gnomAD-4.0.0 9.60257E-06 None None None None N None 0 0 None 0 0 None 0 0 1.05E-05 0 0
P/R 26092 Fn3-78 5 rs745927210 0.9963 -1.65 1.0 D 0.905 0.75 0.706045716637 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
P/R 26092 Fn3-78 5 rs745927210 0.9963 -1.65 1.0 D 0.905 0.75 0.706045716637 gnomAD-4.0.0 4.7754E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71876E-06 1.43287E-05 0
P/A 26290 Fn3-79 5 rs1300310462 0.4089 -2.665 0.058 D 0.63 0.56 0.415820034956 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 6.45161E-04 None 0 None 0 0 0
P/A 26290 Fn3-79 5 rs1300310462 0.4089 -2.665 0.058 D 0.63 0.56 0.415820034956 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93349E-04 None 0 0 0 0 0
P/A 26290 Fn3-79 5 rs1300310462 0.4089 -2.665 0.058 D 0.63 0.56 0.415820034956 gnomAD-4.0.0 6.5754E-06 None None None None N None 0 0 None 0 1.93349E-04 None 0 0 0 0 0
P/L 26290 Fn3-79 5 rs1403341910 0.81 -1.022 0.698 D 0.871 0.74 0.764967751172 gnomAD-2.1.1 4.14E-06 None None None None N None 0 2.99E-05 None 0 0 None 0 None 0 0 0
P/L 26290 Fn3-79 5 rs1403341910 0.81 -1.022 0.698 D 0.871 0.74 0.764967751172 gnomAD-4.0.0 1.61001E-06 None None None None N None 0 2.33678E-05 None 0 0 None 0 0 0 0 0
P/T 26390 Fn3-80 5 rs771933950 0.9108 -2.687 1.0 D 0.829 0.704 0.799015929191 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.45E-05 0
P/T 26390 Fn3-80 5 rs771933950 0.9108 -2.687 1.0 D 0.829 0.704 0.799015929191 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
P/T 26390 Fn3-80 5 rs771933950 0.9108 -2.687 1.0 D 0.829 0.704 0.799015929191 gnomAD-4.0.0 1.28157E-05 None None None None N None 0 0 None 0 0 None 0 0 1.91503E-05 0 5.69152E-05
P/R 26491 Fn3-81 5 rs2154165760 0.9937 None 1.0 D 0.905 0.752 None gnomAD-4.0.0 1.59297E-06 None None None None N None 0 0 None 0 2.77269E-05 None 0 0 0 0 0
P/T 26491 Fn3-81 5 None 0.9171 None 1.0 D 0.811 0.741 0.779549877845 gnomAD-4.0.0 1.59291E-06 None None None None N None 0 0 None 0 0 None 1.90259E-05 0 0 0 0
P/Q 26687 Fn3-82 5 None 0.9901 None 1.0 D 0.897 0.755 0.620070164782 gnomAD-4.0.0 1.36855E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99556E-07 0 1.657E-05
P/S 26687 Fn3-82 5 None 0.9062 None 0.999 D 0.865 0.714 0.587297536726 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
P/L 26784 Fn3-83 5 None 0.7813 None 0.389 D 0.642 0.476 0.566846708062 gnomAD-4.0.0 6.84287E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99585E-07 0 0
P/R 26784 Fn3-83 5 rs1553584164 0.9912 None 1.0 D 0.859 0.638 0.587148908892 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79917E-06 0 0
P/S 26784 Fn3-83 5 rs1705592844 0.9505 None 0.985 D 0.778 0.605 0.497613835824 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
P/S 26784 Fn3-83 5 rs1705592844 0.9505 None 0.985 D 0.778 0.605 0.497613835824 gnomAD-4.0.0 6.57549E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47033E-05 0 0
P/L 26976 Fn3-84 5 rs759657244 0.8407 -0.995 1.0 D 0.921 0.73 0.919376575583 gnomAD-2.1.1 1.43E-05 None None None None N None 0 1.13244E-04 None 0 0 None 0 None 0 0 0
P/L 26976 Fn3-84 5 rs759657244 0.8407 -0.995 1.0 D 0.921 0.73 0.919376575583 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
P/L 26976 Fn3-84 5 rs759657244 0.8407 -0.995 1.0 D 0.921 0.73 0.919376575583 gnomAD-4.0.0 5.12608E-06 None None None None N None 0 6.78311E-05 None 0 0 None 0 0 0 0 0
P/S 26976 Fn3-84 5 None 0.9581 None 1.0 D 0.873 0.85 0.664918217258 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
P/L 27174 Fn3-86 5 None 0.9702 None 1.0 D 0.909 0.651 0.849778887746 gnomAD-4.0.0 5.47467E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29683E-06 0 1.65711E-05
P/R 27174 Fn3-86 5 None 0.9964 None 1.0 D 0.929 0.648 0.783804347082 gnomAD-4.0.0 1.36867E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7991E-06 0 0
P/L 27574 Fn3-89 5 None 0.8846 None 1.0 D 0.891 0.682 0.851436875892 gnomAD-4.0.0 4.10556E-06 None None None None N None 2.98811E-05 0 None 0 2.52436E-05 None 0 0 3.59794E-06 0 0
P/A 27770 Fn3-90 5 None 0.5742 None 0.98 D 0.817 0.731 0.624195876753 gnomAD-4.0.0 1.59319E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86053E-06 0 0
P/R 27867 Fn3-91 5 rs374119634 0.9932 -1.73 1.0 D 0.948 0.677 None gnomAD-2.1.1 3.99E-05 None None None None N None 4.15E-05 0 None 0 0 None 0 None 0 7.88E-05 0
P/R 27867 Fn3-91 5 rs374119634 0.9932 -1.73 1.0 D 0.948 0.677 None gnomAD-3.1.2 5.92E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 8.82E-05 0 0
P/R 27867 Fn3-91 5 rs374119634 0.9932 -1.73 1.0 D 0.948 0.677 None gnomAD-4.0.0 1.10547E-04 None None None None N None 5.35432E-05 0 None 0 0 None 0 0 1.42537E-04 0 9.62649E-05
P/S 27867 Fn3-91 5 None 0.9573 None 1.0 D 0.867 0.751 0.608747212676 gnomAD-4.0.0 4.79982E-06 None None None None N None 0 0 None 0 0 None 0 2.42483E-04 5.7345E-06 0 0
P/A 28059 Fn3-92 5 rs1228328567 0.2985 -2.448 0.919 D 0.807 0.712 0.597483089494 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
P/A 28059 Fn3-92 5 rs1228328567 0.2985 -2.448 0.919 D 0.807 0.712 0.597483089494 gnomAD-4.0.0 3.1859E-06 None None None None N None 5.66123E-05 0 None 0 0 None 0 0 2.86164E-06 0 0
P/A 28256 Fn3-94 5 None 0.8141 None 1.0 D 0.808 0.805 0.646441920909 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
P/S 28256 Fn3-94 5 None 0.9842 None 1.0 D 0.859 0.812 0.66862927664 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
P/T 28256 Fn3-94 5 None 0.9749 None 1.0 D 0.848 0.801 0.826831894253 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
P/L 28454 Fn3-95 5 rs747983822 0.4649 None 0.968 D 0.875 0.623 0.868265480663 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
P/L 28454 Fn3-95 5 rs747983822 0.4649 None 0.968 D 0.875 0.623 0.868265480663 gnomAD-4.0.0 1.31422E-05 None None None None N None 4.82416E-05 0 None 0 0 None 0 0 0 0 0
P/Q 28454 Fn3-95 5 rs747983822 0.8787 -2.079 0.984 D 0.811 0.665 0.803054873015 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
P/Q 28454 Fn3-95 5 rs747983822 0.8787 -2.079 0.984 D 0.811 0.665 0.803054873015 gnomAD-4.0.0 6.57108E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4699E-05 0 0
P/S 28554 Fn3-96 5 None 0.8542 None 1.0 D 0.873 0.748 0.703681620835 gnomAD-4.0.0 1.36878E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99552E-07 1.15993E-05 0
P/S 28655 Fn3-97 5 rs775991395 0.9709 -2.951 1.0 D 0.858 0.494 0.66462611991 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.65E-05 0 0
P/S 28655 Fn3-97 5 rs775991395 0.9709 -2.951 1.0 D 0.858 0.494 0.66462611991 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
P/A 28849 Fn3-98 5 rs765907573 0.2778 -2.354 0.98 D 0.807 0.716 0.532263770911 gnomAD-2.1.1 6.44E-05 None None None None N None 0 4.63822E-04 None 0 0 None 0 None 0 0 0
P/A 28849 Fn3-98 5 rs765907573 0.2778 -2.354 0.98 D 0.807 0.716 0.532263770911 gnomAD-3.1.2 7.88E-05 None None None None N None 0 7.85958E-04 0 0 0 None 0 0 0 0 0
P/A 28849 Fn3-98 5 rs765907573 0.2778 -2.354 0.98 D 0.807 0.716 0.532263770911 gnomAD-4.0.0 3.33069E-05 None None None None N None 0 4.23671E-04 None 0 0 None 0 0 0 0 2.84398E-05
P/A 28946 Fn3-99 5 rs748587720 0.6533 -2.765 1.0 D 0.845 0.592 0.614776886339 gnomAD-2.1.1 2.54E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.56E-05 0
P/A 28946 Fn3-99 5 rs748587720 0.6533 -2.765 1.0 D 0.845 0.592 0.614776886339 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
P/A 28946 Fn3-99 5 rs748587720 0.6533 -2.765 1.0 D 0.845 0.592 0.614776886339 gnomAD-4.0.0 1.17935E-05 None None None None N None 0 0 None 0 0 None 0 0 1.611E-05 0 0
P/H 28946 Fn3-99 5 rs777096362 0.9977 -2.58 1.0 D 0.907 0.635 0.736517613924 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 3.37E-05 None 0 0 0
P/H 28946 Fn3-99 5 rs777096362 0.9977 -2.58 1.0 D 0.907 0.635 0.736517613924 gnomAD-4.0.0 3.1963E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.90596E-05 0
P/R 28946 Fn3-99 5 None 0.9953 None 1.0 D 0.943 0.663 0.714357514992 gnomAD-4.0.0 1.59814E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86162E-06 0 0
P/S 28946 Fn3-99 5 rs748587720 0.9746 -3.075 1.0 D 0.885 0.635 0.64681522666 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
P/A 29141 Fn3-100 5 None 0.4922 None 0.039 D 0.613 0.654 0.449088463789 gnomAD-4.0.0 1.59295E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
P/S 29141 Fn3-100 5 None 0.942 None 0.865 D 0.796 0.739 0.603797353847 gnomAD-4.0.0 3.18589E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71562E-06 0 0
P/A 29339 Fn3-102 5 rs1701796563 0.8862 None 0.955 D 0.789 0.652 0.619614305854 gnomAD-4.0.0 1.36884E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7991E-06 0 0
P/L 29339 Fn3-102 5 None 0.952 None 0.993 D 0.919 0.599 0.848996489152 gnomAD-4.0.0 3.42183E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49766E-06 0 0
P/R 29537 Fn3-103 5 rs1482625198 0.9732 -1.768 0.999 D 0.907 0.659 0.892145347143 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
P/R 29637 Fn3-104 5 None 0.9913 None 1.0 D 0.917 0.653 0.851598590201 gnomAD-4.0.0 1.63807E-06 None None None None N None 0 0 None 0 0 None 0 0 2.91549E-06 0 0
P/S 29738 Fn3-105 5 None 0.952 None 1.0 D 0.852 0.712 0.658657864366 gnomAD-4.0.0 4.15042E-06 None None None None N None 0 0 None 0 0 None 0 0 4.53313E-06 0 1.67661E-05
C/F 29937 Fn3-106 5 None 0.9589 None 0.999 N 0.885 0.309 0.712927215454 gnomAD-4.0.0 1.5985E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87439E-06 0 0
C/W 29937 Fn3-106 5 None 0.996 None 1.0 N 0.873 0.417 0.431602765429 gnomAD-4.0.0 1.59792E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87323E-06 0 0
C/Y 29937 Fn3-106 5 rs577272158 0.9922 -1.592 0.999 N 0.881 0.306 0.68404209341 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
C/Y 29937 Fn3-106 5 rs577272158 0.9922 -1.592 0.999 N 0.881 0.306 0.68404209341 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
C/Y 29937 Fn3-106 5 rs577272158 0.9922 -1.592 0.999 N 0.881 0.306 0.68404209341 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
C/Y 29937 Fn3-106 5 rs577272158 0.9922 -1.592 0.999 N 0.881 0.306 0.68404209341 gnomAD-4.0.0 6.56556E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47007E-05 0 0
P/S 30228 Fn3-108 5 None 0.9882 None 1.0 D 0.835 0.673 0.668985220733 gnomAD-4.0.0 1.36877E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79921E-06 0 0
P/T 30228 Fn3-108 5 None 0.9402 None 1.0 D 0.831 0.659 0.826159165136 gnomAD-4.0.0 6.84387E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99604E-07 0 0
P/L 30328 Fn3-109 5 rs1441747901 0.8664 -0.499 0.999 D 0.906 0.657 0.93358828677 gnomAD-2.1.1 6.37E-05 None None None None N None 0 0 None 0 1.28535E-03 None 0 None 0 0 0
P/L 30328 Fn3-109 5 rs1441747901 0.8664 -0.499 0.999 D 0.906 0.657 0.93358828677 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.86548E-04 None 0 0 0 0 0
P/L 30328 Fn3-109 5 rs1441747901 0.8664 -0.499 0.999 D 0.906 0.657 0.93358828677 gnomAD-4.0.0 1.85922E-06 None None None None N None 0 0 None 0 4.45772E-05 None 0 0 8.47669E-07 0 0
P/Q 30328 Fn3-109 5 None 0.9868 None 1.0 D 0.841 0.691 0.894599402426 gnomAD-4.0.0 6.84244E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65656E-05
P/S 30328 Fn3-109 5 rs748271383 0.9267 -2.876 0.998 D 0.78 0.707 0.738643885121 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
P/S 30328 Fn3-109 5 rs748271383 0.9267 -2.876 0.998 D 0.78 0.707 0.738643885121 gnomAD-4.0.0 1.59142E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
P/H 30426 Fn3-110 5 None 0.999 None 1.0 D 0.915 0.696 0.851868548927 gnomAD-4.0.0 6.86899E-07 None None None None N None 0 0 None 0 0 None 1.91248E-05 0 0 0 0
P/L 30426 Fn3-110 5 rs774454485 0.9787 -0.555 1.0 D 0.923 0.656 None gnomAD-2.1.1 1.64E-05 None None None None N None 0 1.2012E-04 None 0 0 None 0 None 0 0 0
P/L 30426 Fn3-110 5 rs774454485 0.9787 -0.555 1.0 D 0.923 0.656 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
P/L 30426 Fn3-110 5 rs774454485 0.9787 -0.555 1.0 D 0.923 0.656 None gnomAD-4.0.0 5.59745E-06 None None None None N None 0 1.35962E-04 None 0 0 None 0 0 8.48618E-07 0 0
P/S 30426 Fn3-110 5 rs1431006105 0.9908 -2.887 1.0 D 0.871 0.699 0.6544015285 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
P/S 30426 Fn3-110 5 rs1431006105 0.9908 -2.887 1.0 D 0.871 0.699 0.6544015285 gnomAD-4.0.0 3.86971E-06 None None None None N None 1.69866E-05 0 None 0 0 None 0 0 4.80022E-06 0 0
P/T 30426 Fn3-110 5 rs1431006105 0.9865 None 1.0 D 0.867 0.645 0.783059501854 gnomAD-4.0.0 4.81442E-06 None None None None N None 0 0 None 0 0 None 0 0 8.60536E-06 0 0
V/A 30623 Fn3-111 5 rs1194784611 0.1947 -2.643 0.027 N 0.571 0.076 0.254761474806 gnomAD-2.1.1 4.68E-06 None None None None N None 0 0 None 0 6.04E-05 None 0 None 0 0 0
V/A 30623 Fn3-111 5 rs1194784611 0.1947 -2.643 0.027 N 0.571 0.076 0.254761474806 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92976E-04 None 0 0 0 0 0
V/A 30623 Fn3-111 5 rs1194784611 0.1947 -2.643 0.027 N 0.571 0.076 0.254761474806 gnomAD-4.0.0 3.81962E-06 None None None None N None 0 0 None 0 6.75432E-05 None 0 1.70707E-04 1.72408E-06 0 0
P/R 30723 Fn3-112 5 None 0.9929 None 1.0 D 0.931 0.746 0.807518484997 gnomAD-4.0.0 6.88537E-07 None None None None N None 0 0 None 0 0 None 0 0 9.04418E-07 0 0
P/S 30723 Fn3-112 5 rs758537709 0.956 -2.849 1.0 D 0.845 0.861 None gnomAD-2.1.1 6.18E-05 None None None None N None 0 0 None 0 0 None 0 None 1.21971E-04 1.03339E-04 1.4339E-04
P/S 30723 Fn3-112 5 rs758537709 0.956 -2.849 1.0 D 0.845 0.861 None gnomAD-3.1.2 9.2E-05 None None None None N None 0 0 0 0 0 None 1.88537E-04 0 1.76414E-04 0 0
P/S 30723 Fn3-112 5 rs758537709 0.956 -2.849 1.0 D 0.845 0.861 None Evila (2014) Lopez-Bravo (2021) None TMD comp het with 35927delinsEVTW>VKEK (FINmaj) / hom None None N Genetic analysis of genes in patients with previously reported TTN variants; found in single patient comp het with TMD-associated indel FINmaj (EVTW35927delinsVKEK); more severe TMD than others in phenotype; subsequent identification in single patient with distal myopathy of lower limbs and DCM; homozygous in affected patient, heterozygous in both unaffected parents None None None None None None None None None None None
P/S 30723 Fn3-112 5 rs758537709 0.956 -2.849 1.0 D 0.845 0.861 None gnomAD-4.0.0 9.53693E-05 None None None None N None 0 0 None 0 0 None 1.72788E-04 0 1.18445E-04 0 4.84121E-05
P/S 30825 Fn3-113 5 rs1321331072 0.943 -3.199 1.0 D 0.893 0.662 0.543342094247 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
P/S 30825 Fn3-113 5 rs1321331072 0.943 -3.199 1.0 D 0.893 0.662 0.543342094247 gnomAD-4.0.0 4.77363E-06 None None None None N None 0 6.86122E-05 None 0 0 None 0 0 0 0 0
P/L 31020 Fn3-114 5 rs1312330710 0.6458 -0.48 1.0 D 0.938 0.712 0.903324448379 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
P/L 31020 Fn3-114 5 rs1312330710 0.6458 -0.48 1.0 D 0.938 0.712 0.903324448379 gnomAD-4.0.0 3.18221E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71608E-06 0 0
P/R 31020 Fn3-114 5 rs1312330710 0.9827 -1.698 1.0 D 0.961 0.759 0.813260256209 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
P/R 31020 Fn3-114 5 rs1312330710 0.9827 -1.698 1.0 D 0.961 0.759 0.813260256209 gnomAD-4.0.0 1.59111E-06 None None None None N None 0 0 None 0 0 None 0 2.4108E-04 0 0 0
P/S 31020 Fn3-114 5 rs944645264 0.7024 -2.858 1.0 D 0.907 0.806 0.752574999803 gnomAD-2.1.1 8.05E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 8.9E-06 0
P/S 31020 Fn3-114 5 rs944645264 0.7024 -2.858 1.0 D 0.907 0.806 0.752574999803 gnomAD-4.0.0 1.09469E-05 None None None None N None 5.97586E-05 0 None 0 0 None 0 0 1.25923E-05 0 0
P/T 31020 Fn3-114 5 rs944645264 0.4521 -2.426 1.0 D 0.902 0.765 0.748360532628 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
P/T 31020 Fn3-114 5 rs944645264 0.4521 -2.426 1.0 D 0.902 0.765 0.748360532628 gnomAD-4.0.0 3.4209E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99449E-07 4.63725E-05 0
P/L 31117 Fn3-115 5 rs1185315737 0.8749 -0.796 1.0 D 0.919 0.645 0.623027447215 gnomAD-2.1.1 6.37E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.29651E-04 0
P/L 31117 Fn3-115 5 rs1185315737 0.8749 -0.796 1.0 D 0.919 0.645 0.623027447215 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
P/L 31117 Fn3-115 5 rs1185315737 0.8749 -0.796 1.0 D 0.919 0.645 0.623027447215 gnomAD-4.0.0 5.07492E-06 None None None None N None 0 0 None 0 0 None 0 0 6.02463E-06 0 0
V/A 31312 Fn3-116 5 None 0.424 None 0.91 N 0.671 0.179 0.319970858106 gnomAD-4.0.0 6.8417E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99429E-07 0 0
V/G 31312 Fn3-116 5 rs201344229 0.8166 -3.234 0.98 N 0.787 0.442 None gnomAD-2.1.1 2.01E-05 None None None None N None 1.29182E-04 0 None 0 0 None 0 None 0 2.66E-05 0
V/G 31312 Fn3-116 5 rs201344229 0.8166 -3.234 0.98 N 0.787 0.442 None gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
V/G 31312 Fn3-116 5 rs201344229 0.8166 -3.234 0.98 N 0.787 0.442 None gnomAD-4.0.0 2.66451E-05 None None None None N None 1.33444E-05 0 None 0 0 None 0 0 3.55982E-05 0 0
V/I 31312 Fn3-116 5 None 0.1355 None 0.984 N 0.606 0.22 0.418718287753 gnomAD-4.0.0 6.84168E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99428E-07 0 0
V/L 31312 Fn3-116 5 rs748475558 0.5559 -0.877 0.954 N 0.677 0.212 0.29527378943 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
V/L 31312 Fn3-116 5 rs748475558 0.5559 -0.877 0.954 N 0.677 0.212 0.29527378943 gnomAD-4.0.0 2.0525E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.47794E-05 0
P/A 31412 Fn3-117 5 rs757361681 0.785 -2.214 1.0 D 0.812 0.592 0.570232391912 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.98E-06 0
P/A 31412 Fn3-117 5 rs757361681 0.785 -2.214 1.0 D 0.812 0.592 0.570232391912 gnomAD-4.0.0 1.37288E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80339E-06 0 0
P/L 31412 Fn3-117 5 rs1454161350 0.9496 -0.69 1.0 D 0.911 0.614 0.804517166174 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14863E-04 0 None 0 0 None 0 None 0 0 0
P/L 31412 Fn3-117 5 rs1454161350 0.9496 -0.69 1.0 D 0.911 0.614 0.804517166174 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
P/L 31412 Fn3-117 5 rs1454161350 0.9496 -0.69 1.0 D 0.911 0.614 0.804517166174 gnomAD-4.0.0 2.57798E-06 None None None None N None 3.39847E-05 0 None 0 0 None 0 0 0 0 0
P/S 31412 Fn3-117 5 rs757361681 0.9772 -2.789 1.0 D 0.867 0.606 0.578554888259 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.98E-06 0
P/S 31412 Fn3-117 5 rs757361681 0.9772 -2.789 1.0 D 0.867 0.606 0.578554888259 gnomAD-4.0.0 6.86442E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01694E-07 0 0
C/R 31712 Fn3-119 5 rs869320740 0.8445 -1.28 0.996 N 0.743 0.791 0.637424115254 gnomAD-2.1.1 4.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.1E-06 0
C/R 31712 Fn3-119 5 rs869320740 0.8445 -1.28 0.996 N 0.743 0.791 0.637424115254 Pfeffer (2012) Ohlsson (2012) Toro (2013) Palmio (2013) Pfeffer (2014) Hedberg (2014) Uruha (2015) Yue (2015) Palmio (2019) Morais (2020) Huang (2021) None MFM HMERF het None None N Found in multiple studies with full penetrance; WES prioritisation in single family; co-segregates in 3 families tested; WES/WGS prioritisation in 12 HMERF families, full penetrance; Genetic analysis of genes in 127 undiagnosed patients, likely MFM; Genetic analysis of genes in 12 HMERF families; WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF; Genetic analysis of CN patient (familial) None None None None None None None None None None None
C/R 31712 Fn3-119 5 rs869320740 0.8445 -1.28 0.996 N 0.743 0.791 0.637424115254 gnomAD-4.0.0 3.43489E-06 None None None None N None 0 0 None 0 0 None 1.88501E-05 0 2.7073E-06 0 1.66301E-05
C/W 31712 Fn3-119 5 None 0.8964 None 0.999 N 0.679 0.399 0.343101102393 Yeo (2021) None HMERF het None None N Genetic analysis of single KR family with HMERF; co-segregates with condition (n = 2, 2 affected (total 2), 2 predeceased with similar pathology) None None None None None None None None None None None
C/Y 31712 Fn3-119 5 None 0.7862 -1.682 0.996 N 0.674 0.723 0.515430650102 Uruha (2015) None MFM HMERF het None None N Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF None None None None None None None None None None None
P/A 31811 Fn3-120 5 rs373291051 0.501 -2.144 1.0 D 0.789 0.698 None gnomAD-2.1.1 7.15E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
P/A 31811 Fn3-120 5 rs373291051 0.501 -2.144 1.0 D 0.789 0.698 None gnomAD-4.0.0 2.73856E-06 None None None None N None 0 0 None 0 0 None 0 0 2.7E-06 1.15999E-05 0
P/S 31811 Fn3-120 5 rs373291051 0.9236 None 1.0 D 0.859 0.753 0.724769792947 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
P/S 31811 Fn3-120 5 rs373291051 0.9236 None 1.0 D 0.859 0.753 0.724769792947 gnomAD-4.0.0 1.86013E-06 None None None None N None 1.33608E-05 1.66861E-05 None 0 0 None 0 0 8.48073E-07 0 0
P/L 31913 Fn3-121 5 None 0.882 None 1.0 D 0.905 0.528 0.82205374523 gnomAD-4.0.0 1.61585E-06 None None None None N None 0 0 None 0 0 None 0 0 2.92422E-06 0 0
P/S 31913 Fn3-121 5 rs770922523 0.9561 -2.834 1.0 D 0.841 0.502 0.608471955132 gnomAD-2.1.1 7.18E-06 None None None None N None 4.13E-05 0 None 0 0 None 0 None 0 0 1.41363E-04
P/S 31913 Fn3-121 5 rs770922523 0.9561 -2.834 1.0 D 0.841 0.502 0.608471955132 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
P/S 31913 Fn3-121 5 rs770922523 0.9561 -2.834 1.0 D 0.841 0.502 0.608471955132 gnomAD-4.0.0 2.5935E-06 None None None None N None 1.69612E-05 0 None 0 0 None 0 0 2.43855E-06 0 0
P/S 32403 Fn3-124 5 None 0.9634 None 1.0 D 0.83 0.76 0.65196615958 gnomAD-4.0.0 1.20033E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
P/L 32503 Fn3-125 5 rs1393832431 0.8036 -0.623 1.0 D 0.896 0.74 0.861302271662 gnomAD-2.1.1 4.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.17E-06 0
P/L 32503 Fn3-125 5 rs1393832431 0.8036 -0.623 1.0 D 0.896 0.74 0.861302271662 gnomAD-4.0.0 1.60555E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88567E-06 0 0
P/S 32604 Fn3-126 5 None 0.9766 None 1.0 D 0.885 0.657 0.61510976853 gnomAD-4.0.0 2.4007E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62506E-06 0 0
P/L 32799 Fn3-127 5 None 0.7175 None 0.988 D 0.802 0.524 0.82415279977 gnomAD-4.0.0 1.59151E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 0 0
P/R 32900 Fn3-128 5 rs1348881134 0.9833 None 1.0 D 0.848 0.566 0.714309865771 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 2.88018E-04 0 None 0 0 0 0 0
P/R 32900 Fn3-128 5 rs1348881134 0.9833 None 1.0 D 0.848 0.566 0.714309865771 gnomAD-4.0.0 6.57186E-06 None None None None N None 0 0 None 2.88018E-04 0 None 0 0 0 0 0
P/S 32900 Fn3-128 5 rs1193416365 0.8369 -2.468 1.0 D 0.805 0.612 0.624848976157 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
P/S 32900 Fn3-128 5 rs1193416365 0.8369 -2.468 1.0 D 0.805 0.612 0.624848976157 gnomAD-4.0.0 1.59338E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86333E-06 0 0
P/S 33294 Fn3-130 5 None 0.9873 None 1.0 D 0.895 0.725 0.695033247173 gnomAD-4.0.0 6.92161E-07 None None None None I None 0 0 None 0 2.5391E-05 None 0 0 0 0 0
P/T 33294 Fn3-130 5 None 0.9577 None 1.0 D 0.881 0.742 0.833527091442 gnomAD-4.0.0 6.92161E-07 None None None None I None 0 0 None 0 0 None 0 0 9.08039E-07 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.