Structural position:

  • Domain Type: Fn3
  • Aligned Position: 111
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand F

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
R/G 15735 Fn3-1 79 rs780694414 0.6698 -1.931 0.722 N 0.669 0.231 0.411401001288 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.59E-05 None 0 None 0 0 0
R/G 15735 Fn3-1 79 rs780694414 0.6698 -1.931 0.722 N 0.669 0.231 0.411401001288 gnomAD-4.0.0 1.59317E-06 None None None None I None 0 0 None 0 2.77701E-05 None 0 0 0 0 0
Q/R 15836 Fn3-2 79 rs1309017744 0.1963 -0.172 0.001 N 0.17 0.219 0.0986583533028 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.92E-06 0
Q/R 15836 Fn3-2 79 rs1309017744 0.1963 -0.172 0.001 N 0.17 0.219 0.0986583533028 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
Q/R 15836 Fn3-2 79 rs1309017744 0.1963 -0.172 0.001 N 0.17 0.219 0.0986583533028 gnomAD-4.0.0 7.44171E-06 None None None None I None 0 0 None 0 0 None 0 0 9.32921E-06 0 1.60308E-05
R/C 16132 Fn3-4 78 rs2303830 0.0977 -1.403 None N 0.355 0.111 None gnomAD-2.1.1 1.60964E-04 None None None None N None 8.28E-05 2.83E-05 None 0 1.75547E-03 None 0 None 1.19923E-04 7.83E-06 5.62905E-04
R/C 16132 Fn3-4 78 rs2303830 0.0977 -1.403 None N 0.355 0.111 None gnomAD-3.1.2 2.43674E-04 None None None None N None 7.25E-05 0 0 0 6.04053E-03 None 9.43E-05 0 2.95E-05 0 0
R/C 16132 Fn3-4 78 rs2303830 0.0977 -1.403 None N 0.355 0.111 None 1000 genomes 5.99042E-04 None None None None N None 0 0 None None 3E-03 0 None None None 0 None
R/C 16132 Fn3-4 78 rs2303830 0.0977 -1.403 None N 0.355 0.111 None gnomAD-4.0.0 3.15067E-04 None None None None N None 5.34174E-05 0 None 0 1.08229E-02 None 9.37559E-05 0 5.0894E-06 0 1.28197E-04
R/H 16132 Fn3-4 78 rs397517593 0.1135 -1.778 0.877 N 0.517 0.217 0.252162846088 gnomAD-2.1.1 5.37E-05 None None None None N None 8.28E-05 1.41667E-04 None 0 5.16E-05 None 9.81E-05 None 0 3.13E-05 0
R/H 16132 Fn3-4 78 rs397517593 0.1135 -1.778 0.877 N 0.517 0.217 0.252162846088 gnomAD-3.1.2 1.98E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
R/H 16132 Fn3-4 78 rs397517593 0.1135 -1.778 0.877 N 0.517 0.217 0.252162846088 gnomAD-4.0.0 5.21002E-05 None None None None N None 2.40674E-04 1.00177E-04 None 0 2.23484E-05 None 0 8.24266E-04 2.20538E-05 2.30739E-04 1.12208E-04
E/K 16528 Fn3-7 79 None 0.8895 None 0.999 N 0.485 0.396 0.349204839081 gnomAD-4.0.0 6.85133E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00126E-07 0 0
V/A 16628 Fn3-8 78 rs764958038 0.3807 -2.227 0.998 N 0.435 0.432 0.613699239204 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
V/M 16628 Fn3-8 78 None 0.1907 None 0.999 D 0.679 0.361 0.589963725375 gnomAD-4.0.0 1.36943E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7997E-06 0 0
E/D 16829 Fn3-10 79 rs777736610 0.8718 -1.696 0.834 D 0.387 0.239 0.349647731962 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
V/D 16931 Fn3-11 80 rs2056308510 0.9563 None 0.012 D 0.523 0.418 0.74241836975 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.31096E-04 0 0 0 None 0 0 0 0 4.78469E-04
V/D 16931 Fn3-11 80 rs2056308510 0.9563 None 0.012 D 0.523 0.418 0.74241836975 gnomAD-4.0.0 5.13007E-06 None None None None N None 1.69268E-05 3.39294E-05 None 0 0 None 0 0 0 0 2.84835E-05
V/I 16931 Fn3-11 80 None 0.0848 None 0.022 N 0.141 0.138 0.508934680445 gnomAD-4.0.0 6.84563E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99782E-07 0 0
V/L 16931 Fn3-11 80 None 0.3809 None 0.454 N 0.407 0.207 0.454426139905 gnomAD-4.0.0 2.05369E-06 None None None None N None 0 0 None 0 7.5884E-05 None 0 0 0 0 0
E/D 17225 Fn3-13 79 None 0.9171 None 0.999 N 0.483 0.363 0.357724736475 gnomAD-4.0.0 6.84727E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00071E-07 0 0
E/Q 17225 Fn3-13 79 rs2154198655 0.3988 None 1.0 N 0.629 0.247 0.335414705075 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 3.16456E-03 0 0 0
E/Q 17225 Fn3-13 79 rs2154198655 0.3988 None 1.0 N 0.629 0.247 0.335414705075 gnomAD-4.0.0 6.57704E-06 None None None None I None 0 0 None 0 0 None 0 3.40136E-03 0 0 0
E/A 17448 Fn3-14 80 None 0.7127 None 0.999 N 0.676 0.497 0.348101942276 gnomAD-4.0.0 3.60097E-06 None None None None I None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
E/K 17448 Fn3-14 80 rs749894582 0.7733 -1.076 0.999 N 0.539 0.401 0.298403945805 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.99E-06 0
E/K 17448 Fn3-14 80 rs749894582 0.7733 -1.076 0.999 N 0.539 0.401 0.298403945805 gnomAD-4.0.0 4.10979E-06 None None None None I None 0 0 None 0 0 None 0 0 5.40047E-06 0 0
E/Q 17448 Fn3-14 80 rs749894582 0.3799 -1.137 1.0 N 0.623 0.219 0.255777322467 gnomAD-2.1.1 4.06E-06 None None None None I None 0 2.92E-05 None 0 0 None 0 None 0 0 0
E/Q 17448 Fn3-14 80 rs749894582 0.3799 -1.137 1.0 N 0.623 0.219 0.255777322467 gnomAD-4.0.0 6.84965E-07 None None None None I None 0 2.24195E-05 None 0 0 None 0 0 0 0 0
E/A 17547 Fn3-15 78 None 0.6245 None 0.999 N 0.637 0.492 0.390374949789 gnomAD-4.0.0 4.12132E-06 None None None None N None 0 0 None 0 0 None 0 0 4.51E-06 0 1.66467E-05
E/G 17547 Fn3-15 78 rs2055401286 0.8511 None 1.0 N 0.736 0.549 0.469415673434 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
E/G 17547 Fn3-15 78 rs2055401286 0.8511 None 1.0 N 0.736 0.549 0.469415673434 gnomAD-4.0.0 6.57748E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
E/K 17547 Fn3-15 78 None 0.6335 None 0.999 N 0.479 0.416 0.352262096564 gnomAD-4.0.0 2.74811E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70641E-06 0 1.66461E-05
V/D 17647 Fn3-16 79 None 0.8488 None 0.963 N 0.641 0.45 0.847466415278 gnomAD-4.0.0 1.59277E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86105E-06 0 0
V/I 17647 Fn3-16 79 rs2055289563 0.0895 None 0.002 N 0.173 0.057 0.448891444097 gnomAD-4.0.0 3.42244E-06 None None None None N None 2.99204E-05 0 None 0 0 None 0 0 2.69925E-06 0 1.65772E-05
K/N 17840 Fn3-17 77 rs769761717 0.9386 -0.983 0.999 N 0.63 0.295 0.266385636622 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.92E-06 0
K/N 17840 Fn3-17 77 rs769761717 0.9386 -0.983 0.999 N 0.63 0.295 0.266385636622 gnomAD-4.0.0 6.84859E-07 None None None None I None 0 0 None 0 0 None 0 0 8.9996E-07 0 0
V/A 17940 Fn3-18 79 None 0.4 None 0.116 N 0.181 0.214 0.477606743035 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/I 17940 Fn3-18 79 None 0.073 None 0.828 N 0.543 0.133 0.482936932564 gnomAD-4.0.0 1.59576E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86664E-06 0 0
V/A 18144 Fn3-19 80 None 0.3764 None 0.826 N 0.447 0.245 0.566992445632 gnomAD-4.0.0 1.41282E-06 None None None None N None 0 0 None 0 0 None 0 0 1.83983E-06 0 0
V/M 18144 Fn3-19 80 rs758363721 0.2371 -1.085 0.996 D 0.532 0.317 0.605049500696 gnomAD-2.1.1 9.25E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.99E-05 0
V/M 18144 Fn3-19 80 rs758363721 0.2371 -1.085 0.996 D 0.532 0.317 0.605049500696 gnomAD-4.0.0 3.4305E-06 None None None None N None 0 0 None 0 0 None 0 0 3.07307E-06 1.6176E-05 0
V/I 18352 Fn3-21 81 rs769334194 0.0802 -0.648 0.997 N 0.479 0.237 None gnomAD-2.1.1 2.82E-05 None None None None N None 0 1.74297E-04 None 0 0 None 0 None 0 8.91E-06 0
V/I 18352 Fn3-21 81 rs769334194 0.0802 -0.648 0.997 N 0.479 0.237 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 1.96876E-04 0 0 0 None 0 0 2.94E-05 0 0
V/I 18352 Fn3-21 81 rs769334194 0.0802 -0.648 0.997 N 0.479 0.237 None gnomAD-4.0.0 2.18026E-05 None None None None N None 0 1.69727E-04 None 0 0 None 0 0 1.67692E-05 0 0
E/K 18556 Fn3-22 78 None 0.1993 None 0.865 N 0.466 0.27 0.265929055128 gnomAD-4.0.0 3.20575E-06 None None None None N None 0 0 None 0 0 None 0 0 5.76356E-06 0 0
V/L 18662 Fn3-23 84 rs746969341 0.4771 -0.548 0.987 N 0.52 0.253 0.52730433808 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
V/L 18662 Fn3-23 84 rs746969341 0.4771 -0.548 0.987 N 0.52 0.253 0.52730433808 gnomAD-4.0.0 2.56482E-06 None None None None N None 0 1.6963E-05 None 0 0 None 0 0 0 0 2.84738E-05
Q/H 18862 Fn3-24 79 None 0.7678 None 0.667 N 0.563 0.224 0.263140351381 gnomAD-4.0.0 7.30315E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.77217E-05
I/M 18966 Fn3-25 83 rs749403840 0.1646 -0.761 0.677 N 0.357 0.158 0.630611982783 gnomAD-2.1.1 8.06E-06 None None None None I None 0 0 None 0 0 None 6.54E-05 None 0 0 0
I/M 18966 Fn3-25 83 rs749403840 0.1646 -0.761 0.677 N 0.357 0.158 0.630611982783 gnomAD-4.0.0 1.59215E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43328E-05 0
V/A 19066 Fn3-26 79 rs537440385 0.2891 -2.023 0.334 N 0.453 0.316 0.546908861191 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
V/A 19066 Fn3-26 79 rs537440385 0.2891 -2.023 0.334 N 0.453 0.316 0.546908861191 gnomAD-3.1.2 2.63E-05 None None None None N None 0 2.6202E-04 0 0 0 None 0 0 0 0 0
V/A 19066 Fn3-26 79 rs537440385 0.2891 -2.023 0.334 N 0.453 0.316 0.546908861191 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
V/A 19066 Fn3-26 79 rs537440385 0.2891 -2.023 0.334 N 0.453 0.316 0.546908861191 gnomAD-4.0.0 5.57823E-06 None None None None N None 0 1.33387E-04 None 0 0 None 0 0 0 0 1.60082E-05
V/I 19066 Fn3-26 79 rs1308704992 0.0706 -0.566 0.002 N 0.214 0.094 0.437100570223 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
V/I 19066 Fn3-26 79 rs1308704992 0.0706 -0.566 0.002 N 0.214 0.094 0.437100570223 gnomAD-4.0.0 1.59209E-06 None None None None N None 0 2.28791E-05 None 0 0 None 0 0 0 0 0
E/A 19261 Fn3-27 79 rs1454108057 0.6207 None 0.999 N 0.612 0.472 0.358744678677 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
E/D 19261 Fn3-27 79 None 0.9326 None 0.999 N 0.465 0.293 0.331365685468 gnomAD-4.0.0 1.40367E-06 None None None None I None 0 0 None 0 0 None 0 0 1.83211E-06 0 0
E/K 19261 Fn3-27 79 rs200311184 0.6449 -0.531 0.999 N 0.475 0.395 None gnomAD-2.1.1 5.11E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.21E-05 0
E/K 19261 Fn3-27 79 rs200311184 0.6449 -0.531 0.999 N 0.475 0.395 None gnomAD-4.0.0 1.68943E-06 None None None None I None 0 0 None 0 0 None 0 0 3.03174E-06 0 0
V/F 19362 Fn3-28 79 rs878854321 0.4427 -1.43 0.942 N 0.757 0.347 0.718557029062 gnomAD-2.1.1 4.08E-06 None None None None N None 0 2.95E-05 None 0 0 None 0 None 0 0 0
V/F 19362 Fn3-28 79 rs878854321 0.4427 -1.43 0.942 N 0.757 0.347 0.718557029062 gnomAD-4.0.0 6.86932E-07 None None None None N None 0 0 None 0 0 None 0 0 9.02026E-07 0 0
V/I 19362 Fn3-28 79 None 0.0926 None 0.014 N 0.373 0.138 0.465721554213 gnomAD-4.0.0 1.37386E-06 None None None None N None 0 0 None 0 0 None 0 0 9.02026E-07 1.17459E-05 0
E/K 19557 Fn3-29 79 None 0.5557 None 0.956 N 0.513 0.282 0.34854441366 gnomAD-4.0.0 2.40065E-06 None None None None I None 0 0 None 0 0 None 0 0 1.31251E-06 6.07533E-05 0
E/D 19657 Fn3-30 79 rs200728232 0.76 -1.487 0.977 N 0.409 0.308 0.407901774203 gnomAD-2.1.1 5.72E-05 None None None None I None 5.7856E-04 5.67E-05 None 0 0 None 0 None 0 0 0
E/D 19657 Fn3-30 79 rs200728232 0.76 -1.487 0.977 N 0.409 0.308 0.407901774203 gnomAD-3.1.2 1.51184E-04 None None None None I None 5.30734E-04 6.55E-05 0 0 0 None 0 0 0 0 0
E/D 19657 Fn3-30 79 rs200728232 0.76 -1.487 0.977 N 0.409 0.308 0.407901774203 gnomAD-4.0.0 2.91313E-05 None None None None I None 5.60703E-04 5.00367E-05 None 0 0 None 0 0 0 0 3.20277E-05
E/K 19657 Fn3-30 79 None 0.2914 None 0.955 N 0.419 0.273 0.369867359543 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/I 19760 Fn3-31 81 rs1207237676 0.0812 -0.824 0.997 D 0.478 0.335 0.636040160305 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
E/V 19954 Fn3-32 78 rs774004055 0.4732 0.484 0.999 N 0.777 0.475 0.441636318388 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
E/V 19954 Fn3-32 78 rs774004055 0.4732 0.484 0.999 N 0.777 0.475 0.441636318388 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
E/G 20053 Fn3-33 77 None 0.399 None 0.505 N 0.657 0.341 0.470810165807 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
E/A 20348 Fn3-35 78 rs754621313 0.4008 -1.125 0.999 N 0.662 0.405 0.371157983038 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.88E-06 0
E/G 20348 Fn3-35 78 None 0.5351 None 1.0 N 0.749 0.523 0.467247493403 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
A/S 20450 Fn3-36 80 None 0.1575 None 0.136 N 0.396 0.152 0.158396225186 gnomAD-4.0.0 1.6623E-06 None None None None N None 0 2.44451E-05 None 0 0 None 0 0 0 0 0
E/K 20941 Fn3-39 78 rs1480131306 0.6726 -1.049 0.999 N 0.537 0.399 0.37097340754 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
E/K 20941 Fn3-39 78 rs1480131306 0.6726 -1.049 0.999 N 0.537 0.399 0.37097340754 gnomAD-4.0.0 1.59284E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
Q/H 21148 Fn3-41 85 None 0.7364 None 0.999 N 0.665 0.356 0.215109475489 gnomAD-4.0.0 1.59737E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86707E-06 0 0
V/I 21343 Fn3-42 78 None 0.0966 None 0.987 D 0.495 0.284 0.649263682055 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 21343 Fn3-42 78 None 0.4957 None 0.973 N 0.458 0.315 0.599559242703 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-05
R/I 21444 Fn3-43 79 rs775693601 0.635 -0.524 1.0 N 0.825 0.39 0.659830528944 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.59E-05 None 0 None 0 0 0
R/I 21444 Fn3-43 79 rs775693601 0.635 -0.524 1.0 N 0.825 0.39 0.659830528944 gnomAD-4.0.0 1.59253E-06 None None None None I None 0 0 None 0 2.77793E-05 None 0 0 0 0 0
R/K 21444 Fn3-43 79 rs775693601 0.1392 -1.364 0.997 N 0.465 0.31 0.289474373501 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
R/K 21444 Fn3-43 79 rs775693601 0.1392 -1.364 0.997 N 0.465 0.31 0.289474373501 gnomAD-4.0.0 1.59253E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43308E-05 0
L/V 21737 Fn3-45 79 rs2048461875 0.0603 None 0.619 N 0.335 0.126 0.224531998449 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
R/W 21837 Fn3-46 81 rs2048289282 0.4102 None 0.828 N 0.589 0.369 0.446211707333 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/W 21837 Fn3-46 81 rs2048289282 0.4102 None 0.828 N 0.589 0.369 0.446211707333 gnomAD-4.0.0 6.57428E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47093E-05 0 0
E/D 22033 Fn3-47 78 rs768277403 0.9496 -1.395 0.998 N 0.413 0.294 0.250039746154 gnomAD-2.1.1 3.24E-05 None None None None I None 0 0 None 0 0 None 2.65869E-04 None 0 0 0
E/D 22033 Fn3-47 78 rs768277403 0.9496 -1.395 0.998 N 0.413 0.294 0.250039746154 gnomAD-4.0.0 1.30303E-05 None None None None I None 0 0 None 0 0 None 0 0 0 2.09952E-04 1.66107E-05
V/I 22235 Fn3-49 80 rs751354601 0.1092 -1.091 0.843 N 0.562 0.141 None gnomAD-2.1.1 1.07513E-04 None None None None N None 2.89591E-04 5.67E-05 None 0 1.03627E-04 None 2.29148E-04 None 0 9.42E-05 0
V/I 22235 Fn3-49 80 rs751354601 0.1092 -1.091 0.843 N 0.562 0.141 None gnomAD-3.1.2 1.11792E-04 None None None None N None 2.41383E-04 6.55E-05 0 0 0 None 0 0 8.83E-05 0 0
V/I 22235 Fn3-49 80 rs751354601 0.1092 -1.091 0.843 N 0.562 0.141 None gnomAD-4.0.0 9.55174E-05 None None None None N None 3.07347E-04 6.67401E-05 None 0 6.71321E-05 None 0 1.64799E-04 8.99072E-05 1.31862E-04 8.01693E-05
E/D 22526 Fn3-51 76 rs751993220 0.4604 -1.3 0.425 N 0.401 0.081 0.21279746466 gnomAD-2.1.1 1.61E-05 None None None None N None 0 1.15935E-04 None 0 0 None 0 None 0 0 0
E/D 22526 Fn3-51 76 rs751993220 0.4604 -1.3 0.425 N 0.401 0.081 0.21279746466 gnomAD-4.0.0 6.36831E-06 None None None None N None 0 9.14704E-05 None 0 0 None 0 0 0 0 0
E/K 22721 Fn3-52 79 rs374492812 0.7103 -0.531 1.0 N 0.537 0.368 None gnomAD-2.1.1 1.18E-04 None None None None N None 3.72055E-04 3.11509E-04 None 0 1.02902E-04 None 0 None 0 7.05E-05 2.81215E-04
E/K 22721 Fn3-52 79 rs374492812 0.7103 -0.531 1.0 N 0.537 0.368 None gnomAD-3.1.2 1.18393E-04 None None None None N None 3.13858E-04 0 0 0 0 None 9.42E-05 0 4.41E-05 0 4.79846E-04
E/K 22721 Fn3-52 79 rs374492812 0.7103 -0.531 1.0 N 0.537 0.368 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
E/K 22721 Fn3-52 79 rs374492812 0.7103 -0.531 1.0 N 0.537 0.368 None gnomAD-4.0.0 1.03525E-04 None None None None N None 2.13413E-04 1.83394E-04 None 0 2.23224E-05 None 9.37441E-05 1.65399E-04 1.05986E-04 1.0988E-05 9.60861E-05
I/N 22821 Fn3-53 79 rs773379003 0.6823 -1.657 0.999 N 0.731 0.543 0.786870034503 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
K/E 22919 Fn3-54 79 None 0.789 None 0.025 N 0.377 0.199 0.221734844693 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 23117 Fn3-55 78 None 0.3205 None 0.892 N 0.445 0.328 0.65945967189 gnomAD-4.0.0 1.59183E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85966E-06 0 0
V/G 23117 Fn3-55 78 rs968207606 0.5794 None 0.967 D 0.721 0.529 0.839645419952 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/G 23117 Fn3-55 78 rs968207606 0.5794 None 0.967 D 0.721 0.529 0.839645419952 gnomAD-4.0.0 2.56316E-06 None None None None I None 0 0 None 0 0 None 0 0 4.78831E-06 0 0
V/I 23117 Fn3-55 78 None 0.0771 None 0.873 N 0.483 0.307 0.643257150579 gnomAD-4.0.0 1.59185E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85966E-06 0 0
E/A 23217 Fn3-56 79 rs72646884 0.3243 -1.149 0.999 N 0.669 0.388 None gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
E/A 23217 Fn3-56 79 rs72646884 0.3243 -1.149 0.999 N 0.669 0.388 None gnomAD-4.0.0 6.84278E-06 None None None None I None 0 0 None 0 0 None 0 0 8.09594E-06 0 1.65689E-05
E/K 23217 Fn3-56 79 rs767473022 0.2951 -0.976 0.999 N 0.545 0.4 0.308278614506 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
E/K 23217 Fn3-56 79 rs767473022 0.2951 -0.976 0.999 N 0.545 0.4 0.308278614506 gnomAD-4.0.0 1.59168E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85912E-06 0 0
I/M 23319 Fn3-57 80 rs540840413 0.0757 -1.1 0.003 N 0.201 0.058 0.323886383625 gnomAD-2.1.1 5.73E-05 None None None None I None 0 0 None 0 0 None 4.26313E-04 None 0 2.35E-05 0
I/M 23319 Fn3-57 80 rs540840413 0.0757 -1.1 0.003 N 0.201 0.058 0.323886383625 gnomAD-3.1.2 3.29E-05 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 8.29531E-04 0
I/M 23319 Fn3-57 80 rs540840413 0.0757 -1.1 0.003 N 0.201 0.058 0.323886383625 1000 genomes 3.99361E-04 None None None None I None 0 0 None None 0 0 None None None 2E-03 None
I/M 23319 Fn3-57 80 rs540840413 0.0757 -1.1 0.003 N 0.201 0.058 0.323886383625 gnomAD-4.0.0 3.03769E-05 None None None None I None 0 0 None 0 0 None 0 0 7.6309E-06 4.17693E-04 3.20277E-05
I/V 23319 Fn3-57 80 rs753718401 0.059 -1.233 None N 0.145 0.071 0.139678290688 gnomAD-2.1.1 8.07E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
I/V 23319 Fn3-57 80 rs753718401 0.059 -1.233 None N 0.145 0.071 0.139678290688 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
E/D 23512 Fn3-58 78 None 0.9006 None 0.974 N 0.459 0.342 0.335910606209 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
E/G 23512 Fn3-58 78 None 0.7537 None 1.0 N 0.765 0.585 0.459906663326 gnomAD-4.0.0 1.59157E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85914E-06 0 0
E/K 23512 Fn3-58 78 rs752696466 0.5762 -0.669 0.998 N 0.538 0.388 0.315609569513 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
E/K 23512 Fn3-58 78 rs752696466 0.5762 -0.669 0.998 N 0.538 0.388 0.315609569513 gnomAD-4.0.0 1.59154E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43299E-05 0
V/L 23608 Fn3-59 77 rs780081686 0.3229 None 0.656 N 0.503 0.237 0.52628473709 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 23608 Fn3-59 77 rs780081686 0.3229 None 0.656 N 0.503 0.237 0.52628473709 gnomAD-4.0.0 6.57289E-06 None None None None N None 0 6.5505E-05 None 0 0 None 0 0 0 0 0
V/M 23608 Fn3-59 77 rs780081686 0.1891 -1.015 0.99 N 0.528 0.332 0.570930671769 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/M 23608 Fn3-59 77 rs780081686 0.1891 -1.015 0.99 N 0.528 0.332 0.570930671769 gnomAD-4.0.0 3.18394E-06 None None None None N None 0 0 None 0 0 None 0 4.82859E-04 0 0 0
E/K 23904 Fn3-61 79 rs267599038 0.388 None 0.944 N 0.416 0.289 0.252162846088 gnomAD-4.0.0 3.18367E-06 None None None None I None 0 0 None 0 0 None 0 0 5.71866E-06 0 0
E/D 24300 Fn3-64 79 rs1222244205 0.7384 -1.718 0.999 N 0.479 0.373 0.208000267992 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
E/D 24300 Fn3-64 79 rs1222244205 0.7384 -1.718 0.999 N 0.479 0.373 0.208000267992 gnomAD-4.0.0 1.60856E-06 None None None None N None 0 0 None 0 2.78319E-05 None 0 0 0 0 0
M/I 24402 Fn3-65 80 rs868393238 0.1822 None 0.08 N 0.223 0.168 0.331619326243 gnomAD-4.0.0 9.58169E-06 None None None None I None 0 0 None 0 0 None 0 0 1.16948E-05 0 1.65739E-05
M/T 24402 Fn3-65 80 rs903200206 0.1529 None 0.002 N 0.173 0.318 0.597040176542 gnomAD-3.1.2 6.58E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
M/T 24402 Fn3-65 80 rs903200206 0.1529 None 0.002 N 0.173 0.318 0.597040176542 gnomAD-4.0.0 6.57514E-06 None None None None I None 2.41324E-05 0 None 0 0 None 0 0 0 0 0
E/A 24596 Fn3-66 78 None 0.5187 None 0.997 N 0.676 0.472 0.362758974969 gnomAD-4.0.0 1.59586E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86979E-06 0 0
E/K 24596 Fn3-66 78 rs758107705 0.6642 None 0.998 N 0.543 0.36 0.385249989106 gnomAD-4.0.0 2.74019E-06 None None None None N None 0 0 None 0 0 None 0 0 3.60236E-06 0 0
E/K 24886 Fn3-68 79 rs1239424185 0.7838 -0.507 0.999 N 0.462 0.38 0.326616659874 gnomAD-4.0.0 1.36875E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7992E-06 0 0
E/Q 24886 Fn3-68 79 None 0.4158 None 1.0 N 0.573 0.252 0.278143212241 gnomAD-4.0.0 1.36875E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7992E-06 0 0
E/D 24986 Fn3-69 79 None 0.8386 None 0.822 N 0.407 0.172 0.168933306366 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
R/G 25084 Fn3-70 79 None 0.7659 None 0.855 D 0.609 0.318 0.521970134296 gnomAD-4.0.0 6.84311E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99588E-07 0 0
R/Q 25084 Fn3-70 79 rs794729496 0.1786 -1.023 0.989 N 0.624 0.276 0.149567049428 gnomAD-2.1.1 3.93E-05 None None None None I None 4.13E-05 0 None 0 0 None 3.27E-05 None 2.39789E-04 2.35E-05 0
R/Q 25084 Fn3-70 79 rs794729496 0.1786 -1.023 0.989 N 0.624 0.276 0.149567049428 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/Q 25084 Fn3-70 79 rs794729496 0.1786 -1.023 0.989 N 0.624 0.276 0.149567049428 gnomAD-4.0.0 1.79743E-05 None None None None I None 1.33547E-05 0 None 0 2.23075E-05 None 1.40594E-04 0 1.2716E-05 2.19597E-05 1.60143E-05
V/A 25282 Fn3-71 79 rs1230534095 0.3498 -2.216 0.892 N 0.481 0.291 0.661236301376 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/A 25282 Fn3-71 79 rs1230534095 0.3498 -2.216 0.892 N 0.481 0.291 0.661236301376 gnomAD-4.0.0 1.59221E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43283E-05 0
V/I 25282 Fn3-71 79 rs751776506 0.114 -0.741 0.873 D 0.509 0.243 0.634904748024 gnomAD-2.1.1 8.07E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.79E-05 0
V/I 25282 Fn3-71 79 rs751776506 0.114 -0.741 0.873 D 0.509 0.243 0.634904748024 gnomAD-4.0.0 4.77675E-06 None None None None I None 0 0 None 0 0 None 0 0 8.57819E-06 0 0
V/L 25282 Fn3-71 79 rs751776506 0.4784 -0.745 0.773 N 0.5 0.334 0.645151217129 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/L 25282 Fn3-71 79 rs751776506 0.4784 -0.745 0.773 N 0.5 0.334 0.645151217129 gnomAD-4.0.0 1.59225E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
I/T 25484 Fn3-73 80 rs1349741599 0.2009 None 0.124 N 0.501 0.253 0.552451585512 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 25774 Fn3-75 77 rs56340968 0.0714 -0.772 0.099 N 0.385 0.055 0.342865806769 gnomAD-2.1.1 1.79E-05 None None None None N None 1.2408E-04 0 None 0 0 None 0 None 0 1.57E-05 0
V/I 25774 Fn3-75 77 rs56340968 0.0714 -0.772 0.099 N 0.385 0.055 0.342865806769 gnomAD-3.1.2 2.63E-05 None None None None N None 9.65E-05 0 0 0 0 None 0 0 0 0 0
V/I 25774 Fn3-75 77 rs56340968 0.0714 -0.772 0.099 N 0.385 0.055 0.342865806769 gnomAD-4.0.0 4.95942E-06 None None None None N None 8.01239E-05 0 None 0 0 None 0 0 1.69555E-06 0 0
V/L 25774 Fn3-75 77 rs56340968 0.2195 None 0.63 N 0.407 0.186 0.359151904892 gnomAD-4.0.0 2.05333E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79925E-06 0 1.65717E-05
E/K 25968 Fn3-76 79 rs756933390 0.4354 -0.181 1.0 N 0.548 0.327 None gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 1.67168E-04 None 0 None 0 8.88E-06 0
E/K 25968 Fn3-76 79 rs756933390 0.4354 -0.181 1.0 N 0.548 0.327 None gnomAD-4.0.0 1.98445E-05 None None None None I None 0 0 None 0 7.56048E-05 None 0 0 2.33892E-05 0 0
V/A 26364 Fn3-79 79 rs746511599 0.4658 -2.012 0.892 N 0.489 0.339 0.566629817802 gnomAD-2.1.1 1.79E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.91E-05 0
V/A 26364 Fn3-79 79 rs746511599 0.4658 -2.012 0.892 N 0.489 0.339 0.566629817802 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/A 26364 Fn3-79 79 rs746511599 0.4658 -2.012 0.892 N 0.489 0.339 0.566629817802 gnomAD-4.0.0 1.15324E-05 None None None None N None 0 0 None 0 0 None 0 0 2.15438E-05 0 0
E/A 26464 Fn3-80 79 rs766335027 0.75 -1.384 0.999 N 0.663 0.558 0.362960570912 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
E/A 26464 Fn3-80 79 rs766335027 0.75 -1.384 0.999 N 0.663 0.558 0.362960570912 gnomAD-4.0.0 3.18427E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71785E-06 0 0
E/D 26464 Fn3-80 79 None 0.8296 None 0.999 N 0.476 0.299 0.350088858571 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
E/G 26464 Fn3-80 79 rs766335027 0.8761 -1.897 1.0 N 0.753 0.541 0.450248222533 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
E/G 26464 Fn3-80 79 rs766335027 0.8761 -1.897 1.0 N 0.753 0.541 0.450248222533 gnomAD-4.0.0 4.7764E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.29861E-05 0
L/I 26566 Fn3-81 80 None 0.0693 None 0.006 N 0.186 0.074 0.236890367714 gnomAD-4.0.0 1.36872E-06 None None None None I None 0 0 None 0 0 None 1.8814E-05 0 8.9952E-07 0 0
L/P 26566 Fn3-81 80 None 0.9597 None 0.99 N 0.773 0.533 0.843610822603 gnomAD-4.0.0 3.24087E-05 None None None None I None 0 0 None 0 0 None 0 0 3.4125E-05 0 3.66327E-05
E/D 26760 Fn3-82 78 rs778292712 0.7628 -1.34 0.974 D 0.46 0.404 0.20549828249 gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 0 None 9.8E-05 None 0 8.89E-06 0
E/D 26760 Fn3-82 78 rs778292712 0.7628 -1.34 0.974 D 0.46 0.404 0.20549828249 gnomAD-4.0.0 5.47418E-06 None None None None I None 5.97872E-05 0 None 0 0 None 0 0 1.79912E-06 3.4781E-05 1.65706E-05
Y/N 26856 Fn3-83 77 rs773473233 0.2215 -1.419 0.81 N 0.617 0.398 0.465975295344 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
E/G 27050 Fn3-84 79 rs938840239 0.7297 -0.536 1.0 D 0.779 0.615 0.489658423131 gnomAD-2.1.1 4.05E-06 None None None None I None 6.48E-05 0 None 0 0 None 0 None 0 0 0
E/G 27050 Fn3-84 79 rs938840239 0.7297 -0.536 1.0 D 0.779 0.615 0.489658423131 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
E/G 27050 Fn3-84 79 rs938840239 0.7297 -0.536 1.0 D 0.779 0.615 0.489658423131 gnomAD-4.0.0 2.56751E-06 None None None None I None 3.39167E-05 0 None 0 0 None 0 0 0 0 0
E/K 27150 Fn3-85 79 rs1466718214 0.4883 -0.979 0.999 N 0.55 0.406 0.378498632473 gnomAD-2.1.1 8.06E-06 None None None None I None 0 0 None 0 0 None 6.54E-05 None 0 0 0
E/K 27150 Fn3-85 79 rs1466718214 0.4883 -0.979 0.999 N 0.55 0.406 0.378498632473 gnomAD-4.0.0 3.18416E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.8659E-05 0
R/I 27248 Fn3-86 79 None 0.672 None 0.991 N 0.769 0.42 0.461323234107 gnomAD-4.0.0 7.95872E-06 None None None None N None 0 0 None 0 0 None 0 0 1.42921E-05 0 0
V/M 27447 Fn3-87 79 rs758840788 0.2749 -0.864 0.994 N 0.654 0.425 0.668599470789 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
V/M 27447 Fn3-87 79 rs758840788 0.2749 -0.864 0.994 N 0.654 0.425 0.668599470789 gnomAD-4.0.0 4.77417E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.29849E-05 0
E/K 27547 Fn3-88 79 rs779874042 0.1411 -0.475 0.999 N 0.516 0.416 0.33440975612 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 1.63399E-04 None 0 0 0
E/K 27547 Fn3-88 79 rs779874042 0.1411 -0.475 0.999 N 0.516 0.416 0.33440975612 gnomAD-4.0.0 1.02633E-05 None None None None N None 0 0 None 0 0 None 0 0 0 1.73901E-04 0
E/D 28232 Fn3-93 79 rs397517730 0.9301 -1.599 0.822 N 0.481 0.279 0.231873229951 gnomAD-2.1.1 2.49471E-04 None None None None I None 0 0 None 0 0 None 1.99333E-03 None 0 0 1.65837E-04
E/D 28232 Fn3-93 79 rs397517730 0.9301 -1.599 0.822 N 0.481 0.279 0.231873229951 gnomAD-3.1.2 5.92E-05 None None None None I None 4.82E-05 0 0 0 0 None 0 0 0 1.44748E-03 0
E/D 28232 Fn3-93 79 rs397517730 0.9301 -1.599 0.822 N 0.481 0.279 0.231873229951 1000 genomes 7.98722E-04 None None None None I None 0 0 None None 0 0 None None None 4.1E-03 None
E/D 28232 Fn3-93 79 rs397517730 0.9301 -1.599 0.822 N 0.481 0.279 0.231873229951 gnomAD-4.0.0 1.14634E-04 None None None None I None 3.99765E-05 0 None 0 0 None 0 3.30033E-04 8.47619E-07 1.86633E-03 1.44037E-04
V/I 28528 Fn3-95 79 rs753861250 0.0953 -0.489 0.873 D 0.545 0.263 0.600533121316 gnomAD-2.1.1 8.09E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
V/I 28528 Fn3-95 79 rs753861250 0.0953 -0.489 0.873 D 0.545 0.263 0.600533121316 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.31044E-04 0 0 0 None 0 0 0 0 0
V/I 28528 Fn3-95 79 rs753861250 0.0953 -0.489 0.873 D 0.545 0.263 0.600533121316 gnomAD-4.0.0 5.12769E-06 None None None None N None 0 3.39236E-05 None 0 0 None 0 0 4.78719E-06 0 0
V/L 28728 Fn3-97 78 rs759990422 0.0976 -0.689 None N 0.18 0.142 0.139678290688 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
V/L 28728 Fn3-97 78 rs759990422 0.0976 -0.689 None N 0.18 0.142 0.139678290688 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/L 28728 Fn3-97 78 rs759990422 0.0976 -0.689 None N 0.18 0.142 0.139678290688 gnomAD-4.0.0 2.47875E-06 None None None None I None 0 0 None 0 0 None 0 0 3.39037E-06 0 0
E/Q 28922 Fn3-98 78 rs1178384540 0.1809 -0.572 0.988 N 0.604 0.174 0.218845423259 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
E/Q 28922 Fn3-98 78 rs1178384540 0.1809 -0.572 0.988 N 0.604 0.174 0.218845423259 gnomAD-4.0.0 2.73807E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59915E-06 0 0
E/K 29018 Fn3-99 77 None 0.1402 None 0.992 N 0.469 0.365 0.286848849266 gnomAD-4.0.0 4.7898E-06 None None None None I None 0 0 None 0 2.52538E-05 None 0 0 4.49729E-06 0 1.65678E-05
E/Q 29315 Fn3-101 79 None 0.2232 None 1.0 N 0.639 0.334 0.279776271856 gnomAD-4.0.0 1.59107E-06 None None None None I None 5.65163E-05 0 None 0 0 None 0 0 0 0 0
E/V 29315 Fn3-101 79 None 0.3508 None 1.0 N 0.831 0.516 0.379366414296 gnomAD-4.0.0 1.59105E-06 None None None None I None 0 0 None 0 2.77485E-05 None 0 0 0 0 0
V/L 29611 Fn3-103 79 rs79299277 0.6566 -0.691 0.999 N 0.526 0.391 0.617224619168 gnomAD-2.1.1 4.05E-06 None None None None N None 6.49E-05 0 None 0 0 None 0 None 0 0 0
V/L 29611 Fn3-103 79 rs79299277 0.6566 -0.691 0.999 N 0.526 0.391 0.617224619168 gnomAD-3.1.2 2.63E-05 None None None None N None 9.66E-05 0 0 0 0 None 0 0 0 0 0
V/L 29611 Fn3-103 79 rs79299277 0.6566 -0.691 0.999 N 0.526 0.391 0.617224619168 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/L 29611 Fn3-103 79 rs79299277 0.6566 -0.691 0.999 N 0.526 0.391 0.617224619168 gnomAD-4.0.0 6.19849E-06 None None None None N None 1.33319E-04 0 None 0 0 None 0 0 0 0 0
V/M 29611 Fn3-103 79 rs79299277 0.301 -0.836 1.0 N 0.654 0.415 0.638307893888 gnomAD-2.1.1 1.62E-05 None None None None N None 1.29769E-04 0 None 0 0 None 0 None 0 1.79E-05 0
V/M 29611 Fn3-103 79 rs79299277 0.301 -0.836 1.0 N 0.654 0.415 0.638307893888 gnomAD-3.1.2 3.29E-05 None None None None N None 1.20744E-04 0 0 0 0 None 0 0 0 0 0
V/M 29611 Fn3-103 79 rs79299277 0.301 -0.836 1.0 N 0.654 0.415 0.638307893888 gnomAD-4.0.0 2.78953E-05 None None None None N None 8.01218E-05 0 None 0 0 None 0 0 2.7126E-05 1.09861E-05 9.61169E-05
V/I 29711 Fn3-104 79 None 0.0662 None None N 0.18 0.097 0.263140351381 gnomAD-4.0.0 1.59482E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43509E-05 0
V/L 29813 Fn3-105 80 None 0.1623 None 0.001 N 0.263 0.071 0.339555952218 gnomAD-4.0.0 1.59116E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85807E-06 0 0
E/A 30010 Fn3-106 78 None 0.3446 None 0.201 N 0.521 0.185 0.276065633971 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
E/D 30010 Fn3-106 78 rs1481370261 0.8168 None 0.504 N 0.403 0.19 0.209622950755 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
E/D 30010 Fn3-106 78 rs1481370261 0.8168 None 0.504 N 0.403 0.19 0.209622950755 gnomAD-4.0.0 6.57091E-06 None None None None I None 0 6.54879E-05 None 0 0 None 0 0 0 0 0
K/E 30106 Fn3-107 77 None 0.3207 None 0.124 N 0.453 0.15 0.211220785272 gnomAD-4.0.0 1.59127E-06 None None None None I None 0 0 None 0 2.77577E-05 None 0 0 0 0 0
E/K 30302 Fn3-108 79 rs1553538924 0.7125 None 0.999 N 0.591 0.363 0.362758974969 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
E/K 30402 Fn3-109 79 None 0.2178 None 0.984 N 0.488 0.318 0.317084106153 gnomAD-4.0.0 1.59549E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86697E-06 0 0
E/Q 30798 Fn3-112 80 None 0.1409 None 1.0 N 0.627 0.276 0.238705975628 gnomAD-4.0.0 1.59115E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85781E-06 0 0
I/T 30899 Fn3-113 79 rs373727636 0.2139 -2.124 0.062 N 0.547 0.3 None gnomAD-2.1.1 2.2483E-04 None None None None I None 0 0 None 9.66E-05 0 None 0 None 0 4.76309E-04 1.40489E-04
I/T 30899 Fn3-113 79 rs373727636 0.2139 -2.124 0.062 N 0.547 0.3 None gnomAD-3.1.2 1.70826E-04 None None None None I None 4.82E-05 0 0 2.88018E-04 0 None 0 0 3.23377E-04 0 4.77555E-04
I/T 30899 Fn3-113 79 rs373727636 0.2139 -2.124 0.062 N 0.547 0.3 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
I/T 30899 Fn3-113 79 rs373727636 0.2139 -2.124 0.062 N 0.547 0.3 None gnomAD-4.0.0 2.15622E-04 None None None None I None 2.66454E-05 0 None 3.37838E-05 0 None 0 1.64962E-04 2.83089E-04 0 1.60041E-04
E/A 31386 Fn3-116 79 rs772833696 0.8139 -0.741 0.999 N 0.707 0.369 0.403328974453 gnomAD-2.1.1 8.15E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.81E-05 0
E/A 31386 Fn3-116 79 rs772833696 0.8139 -0.741 0.999 N 0.707 0.369 0.403328974453 gnomAD-4.0.0 6.16433E-06 None None None None I None 0 0 None 0 0 None 0 0 8.10104E-06 0 0
E/G 31386 Fn3-116 79 None 0.9082 None 1.0 D 0.773 0.49 0.598035270499 gnomAD-4.0.0 1.36985E-06 None None None None I None 0 0 None 0 0 None 0 0 1.80023E-06 0 0
V/I 31785 Fn3-119 78 rs755742174 0.1195 -0.744 0.767 N 0.322 0.187 0.53906709209 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 31785 Fn3-119 78 rs755742174 0.1195 -0.744 0.767 N 0.322 0.187 0.53906709209 gnomAD-4.0.0 8.21039E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99473E-06 1.15931E-05 1.65662E-05
V/M 31988 Fn3-121 80 rs756469423 0.1148 -0.822 0.988 N 0.633 0.329 0.485275477626 gnomAD-2.1.1 4.29E-05 None None None None N None 4.13E-05 0 None 0 1.02554E-04 None 1.30727E-04 None 0 3.91E-05 0
V/M 31988 Fn3-121 80 rs756469423 0.1148 -0.822 0.988 N 0.633 0.329 0.485275477626 gnomAD-3.1.2 5.26E-05 None None None None N None 7.24E-05 1.30924E-04 0 0 3.84911E-04 None 0 0 1.47E-05 0 0
V/M 31988 Fn3-121 80 rs756469423 0.1148 -0.822 0.988 N 0.633 0.329 0.485275477626 gnomAD-4.0.0 4.09004E-05 None None None None N None 8.00918E-05 3.33378E-05 None 0 6.6836E-05 None 0 0 3.64488E-05 1.20762E-04 1.60123E-05
E/G 32182 Fn3-122 78 rs1311963909 0.7482 -1.137 1.0 N 0.77 0.59 0.461759001683 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
E/G 32182 Fn3-122 78 rs1311963909 0.7482 -1.137 1.0 N 0.77 0.59 0.461759001683 gnomAD-4.0.0 5.47381E-06 None None None None I None 0 0 None 0 0 None 0 0 7.19581E-06 0 0
E/K 32182 Fn3-122 78 None 0.6814 None 0.998 N 0.552 0.378 0.366659145958 gnomAD-4.0.0 2.05275E-06 None None None None I None 0 0 None 0 2.52169E-05 None 0 0 8.99504E-07 0 1.65695E-05
T/I 32477 Fn3-124 79 None 0.3298 None 0.921 N 0.525 0.323 0.403609169532 gnomAD-4.0.0 2.05347E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69898E-06 0 0
I/N 32577 Fn3-125 79 rs1369862487 0.6238 -1.347 0.916 N 0.809 0.509 0.770098793453 gnomAD-2.1.1 4.72E-06 None None None None I None 0 3.32E-05 None 0 0 None 0 None 0 0 0
I/N 32577 Fn3-125 79 rs1369862487 0.6238 -1.347 0.916 N 0.809 0.509 0.770098793453 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
I/N 32577 Fn3-125 79 rs1369862487 0.6238 -1.347 0.916 N 0.809 0.509 0.770098793453 gnomAD-4.0.0 2.65293E-06 None None None None I None 0 3.61063E-05 None 0 0 None 0 0 0 0 0
I/S 32577 Fn3-125 79 rs1369862487 0.5869 -2.126 0.638 N 0.688 0.451 0.696367886986 gnomAD-2.1.1 4.72E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.09E-05 0
C/G 32678 Fn3-126 79 rs368160975 0.5513 -1.764 0.999 N 0.701 0.463 None 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
C/S 32678 Fn3-126 79 None 0.4882 None 0.99 N 0.632 0.474 0.642663040669 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
E/K 32873 Fn3-127 79 rs1575354700 0.6819 None 0.999 N 0.541 0.455 0.335661160332 gnomAD-4.0.0 3.42099E-06 None None None None N None 0 0 None 0 1.25964E-04 None 0 0 0 0 0
Q/L 32975 Fn3-128 80 rs776743138 0.356 -0.081 0.135 N 0.413 0.219 None gnomAD-2.1.1 4.02E-05 None None None None N None 0 0 None 0 0 None 0 None 4.65E-05 7.12E-05 1.65948E-04
Q/L 32975 Fn3-128 80 rs776743138 0.356 -0.081 0.135 N 0.413 0.219 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
Q/L 32975 Fn3-128 80 rs776743138 0.356 -0.081 0.135 N 0.413 0.219 None gnomAD-4.0.0 2.7267E-05 None None None None N None 0 0 None 0 0 None 1.56196E-05 0 3.3906E-05 0 4.804E-05
E/D 33076 Fn3-129 79 rs1304767671 0.8483 -1.351 0.999 N 0.466 0.242 0.340510301474 gnomAD-2.1.1 3.18E-05 None None None None N None 0 1.18203E-03 None 0 0 None 0 None 0 0 0
E/D 33076 Fn3-129 79 rs1304767671 0.8483 -1.351 0.999 N 0.466 0.242 0.340510301474 gnomAD-3.1.2 1.31E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 4.77555E-04
E/D 33076 Fn3-129 79 rs1304767671 0.8483 -1.351 0.999 N 0.466 0.242 0.340510301474 gnomAD-4.0.0 9.13418E-06 None None None None N None 0 6.15385E-05 None 0 0 None 0 0 7.22949E-06 0 6.80457E-05
E/K 33076 Fn3-129 79 rs1281110554 0.7814 -0.418 0.999 N 0.484 0.389 0.329020015101 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
E/K 33076 Fn3-129 79 rs1281110554 0.7814 -0.418 0.999 N 0.484 0.389 0.329020015101 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
E/K 33076 Fn3-129 79 rs1281110554 0.7814 -0.418 0.999 N 0.484 0.389 0.329020015101 gnomAD-4.0.0 2.56247E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.34027E-05 2.84463E-05
E/D 33470 Fn3-131 79 None 0.5812 None 0.999 N 0.489 0.342 0.442977140156 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
E/K 33470 Fn3-131 79 None 0.3807 None 0.999 N 0.583 0.391 0.3349148499 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
E/D 33765 Fn3-132 77 None 0.8986 None 0.994 N 0.459 0.295 0.316198179892 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

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.