Structural position:

  • Domain Type: Fn3
  • Aligned Position: 6
  • 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
R/C 15662 Fn3-1 6 rs762723635 0.1378 -0.574 1.0 D 0.554 0.286 0.347879110917 gnomAD-2.1.1 1.08E-05 None None None None N None 4.14E-05 0 None 0 0 None 0 None 0 1.57E-05 0
R/C 15662 Fn3-1 6 rs762723635 0.1378 -0.574 1.0 D 0.554 0.286 0.347879110917 gnomAD-3.1.2 2.63E-05 None None None None N None 7.25E-05 6.57E-05 0 0 0 None 0 0 0 0 0
R/C 15662 Fn3-1 6 rs762723635 0.1378 -0.574 1.0 D 0.554 0.286 0.347879110917 gnomAD-4.0.0 8.68395E-06 None None None None N None 8.02332E-05 1.67146E-05 None 0 0 None 0 0 5.93706E-06 0 0
R/H 15662 Fn3-1 6 rs1457971549 0.1329 -1.46 0.998 N 0.451 0.294 0.387850303812 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
R/H 15662 Fn3-1 6 rs1457971549 0.1329 -1.46 0.998 N 0.451 0.294 0.387850303812 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.31251E-04 0 0 0 None 0 0 0 2.07125E-04 0
R/H 15662 Fn3-1 6 rs1457971549 0.1329 -1.46 0.998 N 0.451 0.294 0.387850303812 gnomAD-4.0.0 6.2026E-06 None None None None N None 0 3.34247E-05 None 0 4.48129E-05 None 1.56265E-05 0 3.39253E-06 1.09871E-05 0
R/S 15662 Fn3-1 6 None 0.3773 None 0.967 N 0.429 0.202 0.337135696972 gnomAD-4.0.0 6.84798E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99981E-07 0 0
L/V 15763 Fn3-2 6 None 0.0763 None 0.969 N 0.5 0.163 0.298745278005 gnomAD-4.0.0 1.59467E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86331E-06 0 0
L/W 15763 Fn3-2 6 rs2154209220 0.2375 None 0.999 N 0.791 0.274 0.62360313169 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 15864 Fn3-3 6 rs1553709304 0.0649 None None N 0.116 0.039 0.156986980423 gnomAD-4.0.0 1.65486E-06 None None None None N None 0 0 None 0 0 None 0 0 2.91596E-06 0 0
K/E 16060 Fn3-4 6 rs2057387280 0.218 None 0.124 N 0.544 0.17 0.278143212241 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
E/K 16160 Fn3-5 6 rs1314919427 0.3305 -0.897 0.999 N 0.637 0.37 0.447803500395 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.35E-05 0
E/K 16160 Fn3-5 6 rs1314919427 0.3305 -0.897 0.999 N 0.637 0.37 0.447803500395 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
E/K 16160 Fn3-5 6 rs1314919427 0.3305 -0.897 0.999 N 0.637 0.37 0.447803500395 gnomAD-4.0.0 4.96271E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93844E-06 0 1.60339E-05
T/A 16455 Fn3-7 6 rs374543277 0.1078 -0.706 0.954 N 0.603 0.197 None gnomAD-2.1.1 4.72E-05 None None None None N None 0 0 None 0 0 None 3.4E-05 None 0 9.49E-05 0
T/A 16455 Fn3-7 6 rs374543277 0.1078 -0.706 0.954 N 0.603 0.197 None gnomAD-3.1.2 8.56E-05 None None None None N None 0 6.57E-05 0 0 0 None 0 0 1.61936E-04 2.07555E-04 0
T/A 16455 Fn3-7 6 rs374543277 0.1078 -0.706 0.954 N 0.603 0.197 None gnomAD-4.0.0 1.10704E-04 None None None None N None 0 1.6868E-05 None 0 0 None 0 0 1.45298E-04 4.43941E-05 3.21781E-05
T/S 16455 Fn3-7 6 rs1189196149 0.1154 -0.775 0.98 N 0.59 0.178 0.233150807113 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9E-06 0
T/S 16455 Fn3-7 6 rs1189196149 0.1154 -0.775 0.98 N 0.59 0.178 0.233150807113 gnomAD-4.0.0 1.60486E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88032E-06 0 0
G/E 16556 Fn3-8 6 rs866384387 0.6784 -1.784 1.0 N 0.819 0.435 0.40017627803 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
G/E 16556 Fn3-8 6 rs866384387 0.6784 -1.784 1.0 N 0.819 0.435 0.40017627803 gnomAD-4.0.0 4.10807E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.79952E-05 1.65881E-05
G/R 16556 Fn3-8 6 rs1193616870 0.7535 -1.054 1.0 D 0.802 0.482 0.534668972696 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.63E-05 None 0 None 0 0 0
G/R 16556 Fn3-8 6 rs1193616870 0.7535 -1.054 1.0 D 0.802 0.482 0.534668972696 gnomAD-4.0.0 1.59383E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86257E-06 0 0
R/C 16656 Fn3-9 6 rs1030093239 0.4269 -0.258 0.252 D 0.517 0.268 0.514866526686 gnomAD-2.1.1 7.35E-06 None None None None N None 4.21E-05 0 None 0 0 None 0 None 0 8.13E-06 0
R/C 16656 Fn3-9 6 rs1030093239 0.4269 -0.258 0.252 D 0.517 0.268 0.514866526686 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 2.0816E-04 0
R/C 16656 Fn3-9 6 rs1030093239 0.4269 -0.258 0.252 D 0.517 0.268 0.514866526686 gnomAD-4.0.0 1.11796E-05 None None None None N None 1.33976E-05 0 None 0 0 None 0 0 1.01805E-05 4.42165E-05 1.60539E-05
R/H 16656 Fn3-9 6 rs373799076 0.2806 -1.201 1.0 D 0.647 0.382 None gnomAD-2.1.1 3.32E-05 None None None None N None 0 2.95E-05 None 0 2.85812E-04 None 0 None 0 1.86E-05 0
R/H 16656 Fn3-9 6 rs373799076 0.2806 -1.201 1.0 D 0.647 0.382 None gnomAD-3.1.2 6.61E-06 None None None None N None 2.43E-05 0 0 0 0 None 0 0 0 0 0
R/H 16656 Fn3-9 6 rs373799076 0.2806 -1.201 1.0 D 0.647 0.382 None gnomAD-4.0.0 3.04448E-05 None None None None N None 2.68039E-05 3.35762E-05 None 0 4.49762E-05 None 0 0 3.47887E-05 1.10735E-05 1.60498E-05
R/L 16656 Fn3-9 6 rs373799076 0.5086 None 0.913 N 0.707 0.306 0.552656131934 gnomAD-4.0.0 6.17284E-06 None None None None N None 0 0 None 0 0 None 0 0 8.10304E-06 0 0
R/S 16656 Fn3-9 6 rs1030093239 0.7893 -0.465 0.954 N 0.719 0.332 0.394536629495 gnomAD-2.1.1 8.3E-06 None None None None N None 0 0 None 0 0 None 6.71E-05 None 0 0 0
R/S 16656 Fn3-9 6 rs1030093239 0.7893 -0.465 0.954 N 0.719 0.332 0.394536629495 gnomAD-4.0.0 5.48543E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80046E-06 5.83703E-05 1.66091E-05
K/E 17052 Fn3-12 6 rs1451084974 0.3012 None 0.124 N 0.549 0.136 0.250579442822 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 0 9.5511E-04
K/E 17052 Fn3-12 6 rs1451084974 0.3012 None 0.124 N 0.549 0.136 0.250579442822 gnomAD-4.0.0 1.31536E-05 None None None None N None 0 0 None 0 0 None 0 0 0 0 9.5511E-04
V/A 17152 Fn3-13 6 None 0.2711 None 0.645 N 0.582 0.179 0.318540980066 gnomAD-4.0.0 1.59519E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86421E-06 0 0
V/I 17152 Fn3-13 6 rs1553692607 0.077 None 0.006 N 0.277 0.05 0.146414634003 gnomAD-4.0.0 2.05508E-06 None None None None N None 0 0 None 0 5.05382E-05 None 0 0 9.001E-07 0 0
D/E 17475 Fn3-15 6 rs1176767614 0.1301 -0.538 0.003 N 0.097 0.03 0.223146558224 gnomAD-2.1.1 4.35E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.77936E-04
D/E 17475 Fn3-15 6 rs1176767614 0.1301 -0.538 0.003 N 0.097 0.03 0.223146558224 gnomAD-4.0.0 1.62648E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.07409E-05
P/A 17574 Fn3-16 6 rs759901950 0.7242 -2.137 1.0 N 0.825 0.351 0.438593652726 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9E-06 0
P/S 17574 Fn3-16 6 rs759901950 0.9496 -2.878 1.0 N 0.835 0.372 0.444202592202 gnomAD-2.1.1 8.12E-06 None None None None N None 6.49E-05 0 None 0 0 None 0 None 0 9E-06 0
P/S 17574 Fn3-16 6 rs759901950 0.9496 -2.878 1.0 N 0.835 0.372 0.444202592202 gnomAD-4.0.0 3.18914E-06 None None None None N None 5.67344E-05 0 None 0 0 None 0 0 2.86308E-06 0 0
L/V 17769 Fn3-17 6 rs759317677 0.086 -1.504 0.001 N 0.224 0.052 0.17948927462 gnomAD-2.1.1 2.02E-05 None None None None N None 0 0 None 0 0 None 1.63773E-04 None 0 0 0
L/V 17769 Fn3-17 6 rs759317677 0.086 -1.504 0.001 N 0.224 0.052 0.17948927462 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
L/V 17769 Fn3-17 6 rs759317677 0.086 -1.504 0.001 N 0.224 0.052 0.17948927462 gnomAD-4.0.0 1.30233E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.08819E-04 3.20636E-05
G/R 18171 Fn3-20 6 rs751216891 0.3919 -1.01 0.964 N 0.773 0.209 0.494232246516 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
G/R 18171 Fn3-20 6 rs751216891 0.3919 -1.01 0.964 N 0.773 0.209 0.494232246516 gnomAD-4.0.0 3.42444E-06 None None None None N None 0 0 None 0 0 None 0 0 4.50055E-06 0 0
I/V 18584 Fn3-23 6 rs760979964 0.0727 -0.922 0.267 N 0.272 0.195 0.259272394797 gnomAD-2.1.1 5.29E-06 None None None None N None 0 0 None 0 6.42E-05 None 0 None 0 0 0
I/V 18584 Fn3-23 6 rs760979964 0.0727 -0.922 0.267 N 0.272 0.195 0.259272394797 gnomAD-4.0.0 5.03976E-06 None None None None N None 0 0 None 0 5.13294E-05 None 0 0 4.62974E-06 0 0
V/A 18789 Fn3-24 6 rs377635048 0.0867 -1.595 0.565 N 0.615 0.07 None gnomAD-2.1.1 8.85E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.85E-05 0
V/A 18789 Fn3-24 6 rs377635048 0.0867 -1.595 0.565 N 0.615 0.07 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.36E-05 0 0
V/A 18789 Fn3-24 6 rs377635048 0.0867 -1.595 0.565 N 0.615 0.07 None gnomAD-4.0.0 8.40602E-06 None None None None N None 0 0 None 0 0 None 0 0 1.13104E-05 0 0
V/G 18789 Fn3-24 6 None 0.1456 None 0.901 N 0.735 0.222 0.520963378925 gnomAD-4.0.0 7.17141E-07 None None None None N None 0 0 None 0 0 None 0 0 9.24712E-07 0 0
V/M 18789 Fn3-24 6 None 0.1205 None 0.901 N 0.622 0.178 0.27855597813 gnomAD-4.0.0 7.17812E-07 None None None None N None 0 0 None 0 0 None 0 1.83554E-04 0 0 0
G/R 19188 Fn3-27 6 None 0.3312 None 0.413 N 0.365 0.242 0.393623145366 gnomAD-4.0.0 6.89016E-07 None None None None N None 0 0 None 0 0 None 0 0 9.03271E-07 0 0
G/V 19188 Fn3-27 6 None 0.2861 None 0.993 N 0.788 0.447 0.522129480193 gnomAD-4.0.0 1.61777E-06 None None None None N None 0 2.36619E-05 None 0 0 None 0 0 0 0 0
E/A 19289 Fn3-28 6 None 0.3952 None 0.999 N 0.682 0.363 0.59128977468 gnomAD-4.0.0 1.6007E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87581E-06 0 0
E/K 19289 Fn3-28 6 rs1031046164 0.4668 None 0.999 D 0.573 0.385 0.573099714865 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/K 19289 Fn3-28 6 rs1031046164 0.4668 None 0.999 D 0.573 0.385 0.573099714865 gnomAD-4.0.0 6.57652E-06 None None None None N None 2.41359E-05 0 None 0 0 None 0 0 0 0 0
D/H 19584 Fn3-30 6 rs765734391 0.2697 -0.651 0.484 N 0.56 0.193 0.323615622048 gnomAD-4.0.0 1.59858E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86275E-06 0 0
D/Y 19584 Fn3-30 6 rs765734391 0.2364 -0.059 0.741 N 0.605 0.213 0.317378411342 gnomAD-2.1.1 8.13E-06 None None None None N None 0 0 None 0 0 None 6.77E-05 None 0 0 0
D/Y 19584 Fn3-30 6 rs765734391 0.2364 -0.059 0.741 N 0.605 0.213 0.317378411342 gnomAD-4.0.0 3.19718E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.918E-05 0
R/T 19882 Fn3-32 6 rs1309373929 0.1518 -0.247 0.98 N 0.548 0.295 0.418344901717 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.1E-06 0
R/T 19882 Fn3-32 6 rs1309373929 0.1518 -0.247 0.98 N 0.548 0.295 0.418344901717 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
R/T 19882 Fn3-32 6 rs1309373929 0.1518 -0.247 0.98 N 0.548 0.295 0.418344901717 gnomAD-4.0.0 2.56972E-06 None None None None N None 1.69405E-05 0 None 0 0 None 0 0 2.39771E-06 0 0
T/A 20176 Fn3-34 6 None 0.0783 None 0.826 N 0.437 0.124 0.181679512989 gnomAD-4.0.0 1.59199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85969E-06 0 0
I/T 20376 Fn3-36 6 rs1366424798 0.4357 -1.759 0.978 N 0.69 0.348 0.370608029945 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 0 0
I/T 20376 Fn3-36 6 rs1366424798 0.4357 -1.759 0.978 N 0.69 0.348 0.370608029945 gnomAD-4.0.0 7.96813E-06 None None None None N None 0 0 None 0 0 None 0 0 0 7.1804E-05 0
I/V 20376 Fn3-36 6 None 0.0808 None 0.198 N 0.203 0.123 0.21279746466 gnomAD-4.0.0 1.5936E-06 None None None None N None 0 2.29106E-05 None 0 0 None 0 0 0 0 0
Q/R 20574 Fn3-37 6 rs1176666570 0.1239 -0.435 0.99 N 0.589 0.327 0.227934060464 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
E/A 20673 Fn3-38 6 rs2049807287 0.6691 None 0.999 N 0.751 0.307 0.475034548194 gnomAD-4.0.0 1.59178E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85943E-06 0 0
E/K 20673 Fn3-38 6 rs2049807795 0.6793 None 0.999 N 0.654 0.344 0.46289702323 gnomAD-4.0.0 1.36862E-06 None None None None N None 0 0 None 0 0 None 0 1.73732E-04 8.99586E-07 0 0
T/A 21069 Fn3-41 6 None 0.0732 None 0.061 N 0.125 0.114 0.110078149338 gnomAD-4.0.0 7.00326E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.70016E-05
R/G 21371 Fn3-43 6 rs748901968 0.5913 None 0.549 N 0.577 0.221 0.498323335527 gnomAD-3.1.2 1.97E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 2.94E-05 0 0
R/G 21371 Fn3-43 6 rs748901968 0.5913 None 0.549 N 0.577 0.221 0.498323335527 gnomAD-4.0.0 1.30258E-05 None None None None N None 0 1.67246E-05 None 0 0 None 0 0 1.52657E-05 0 3.20554E-05
R/S 21371 Fn3-43 6 rs2049074403 0.8482 None 0.379 N 0.557 0.18 0.286465849087 gnomAD-4.0.0 1.59492E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43997E-05 0
R/T 21371 Fn3-43 6 None 0.6945 None 0.549 N 0.586 0.217 0.409398589964 gnomAD-4.0.0 1.59501E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86339E-06 0 0
Q/L 21564 Fn3-44 6 None 0.1588 None 0.801 N 0.468 0.193 0.323886383625 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
K/R 21664 Fn3-45 6 rs376637538 0.0758 None 0.003 N 0.235 0.094 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/R 21664 Fn3-45 6 rs376637538 0.0758 None 0.003 N 0.235 0.094 None gnomAD-4.0.0 6.57436E-06 None None None None N None 2.41324E-05 0 None 0 0 None 0 0 0 0 0
G/R 21762 Fn3-46 6 rs772939753 0.8037 -0.957 1.0 N 0.821 0.431 0.624040304256 gnomAD-2.1.1 1.93E-05 None None None None N None 0 1.36064E-04 None 0 0 None 0 None 0 0 0
A/T 21961 Fn3-47 6 rs778340197 0.1134 -1.07 0.892 N 0.593 0.176 0.224531998449 gnomAD-2.1.1 4.09E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 0 0
A/T 21961 Fn3-47 6 rs778340197 0.1134 -1.07 0.892 N 0.593 0.176 0.224531998449 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
A/T 21961 Fn3-47 6 rs778340197 0.1134 -1.07 0.892 N 0.593 0.176 0.224531998449 gnomAD-4.0.0 6.57756E-06 None None None None N None 0 6.55566E-05 None 0 0 None 0 0 0 0 0
D/G 22060 Fn3-48 6 rs777203619 0.3285 None 0.989 N 0.591 0.447 None gnomAD-3.1.2 1.32E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
D/G 22060 Fn3-48 6 rs777203619 0.3285 None 0.989 N 0.591 0.447 None gnomAD-4.0.0 1.7985E-05 None None None None N None 1.33654E-05 0 None 0 0 None 0 0 2.37413E-05 0 0
D/Y 22060 Fn3-48 6 rs1201131904 0.3969 None 1.0 N 0.747 0.418 0.498767733754 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
D/Y 22060 Fn3-48 6 rs1201131904 0.3969 None 1.0 N 0.747 0.418 0.498767733754 gnomAD-4.0.0 6.57877E-06 None None None None N None 0 6.56254E-05 None 0 0 None 0 0 0 0 0
A/T 22161 Fn3-49 6 rs886038883 0.2081 None 0.056 N 0.273 0.184 0.115124310173 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/I 22359 Fn3-50 6 rs2303838 0.0813 -0.544 0.003 N 0.171 0.029 None gnomAD-2.1.1 2.40208E-01 None None None None N None 3.3412E-01 1.92856E-01 None 2.35072E-01 6.10084E-01 None 3.26264E-01 None 1.71405E-01 1.74205E-01 2.1685E-01
V/I 22359 Fn3-50 6 rs2303838 0.0813 -0.544 0.003 N 0.171 0.029 None gnomAD-3.1.2 2.45014E-01 None None None None N None 3.35173E-01 2.00052E-01 4.85619E-01 2.36736E-01 6.13512E-01 None 1.81913E-01 2.05696E-01 1.74161E-01 3.28002E-01 2.33014E-01
V/I 22359 Fn3-50 6 rs2303838 0.0813 -0.544 0.003 N 0.171 0.029 None 1000 genomes 3.51238E-01 None None None None N None 3.434E-01 2.147E-01 None None 6.31E-01 1.849E-01 None None None 3.415E-01 None
V/I 22359 Fn3-50 6 rs2303838 0.0813 -0.544 0.003 N 0.171 0.029 None gnomAD-4.0.0 2.02234E-01 None None None None N None 3.36518E-01 1.97103E-01 None 2.36169E-01 6.14035E-01 None 1.71923E-01 2.5091E-01 1.68169E-01 3.23843E-01 2.24165E-01
V/M 22456 Fn3-51 6 rs2047288544 0.1243 None 0.934 N 0.477 0.125 0.309839678437 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.96696E-04 0 0 0 None 0 0 0 0 0
V/M 22456 Fn3-51 6 rs2047288544 0.1243 None 0.934 N 0.477 0.125 0.309839678437 gnomAD-4.0.0 1.97275E-05 None None None None N None 0 1.96696E-04 None 0 0 None 0 0 0 0 0
T/N 22648 Fn3-52 6 None 0.1564 None 0.998 N 0.692 0.233 0.283761946502 gnomAD-4.0.0 1.71096E-05 None None None None N None 0 0 None 0 0 None 0 0 2.24906E-05 0 0
P/L 22748 Fn3-53 6 rs780062324 0.0887 -0.81 0.961 N 0.606 0.318 0.491044626064 gnomAD-2.1.1 1.63E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.59E-05 0
P/L 22748 Fn3-53 6 rs780062324 0.0887 -0.81 0.961 N 0.606 0.318 0.491044626064 gnomAD-4.0.0 2.12469E-05 None None None None N None 0 0 None 0 0 None 1.87448E-05 0 2.61045E-05 1.16978E-05 0
P/R 22748 Fn3-53 6 None 0.2287 None 0.994 N 0.635 0.358 0.375326005269 gnomAD-4.0.0 6.85384E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00155E-07 0 0
G/A 22846 Fn3-54 6 rs757698964 0.4444 -0.414 1.0 N 0.616 0.457 None gnomAD-2.1.1 4.5E-06 None None None None N None 6.64E-05 0 None 0 0 None 0 None 0 0 0
G/A 22846 Fn3-54 6 rs757698964 0.4444 -0.414 1.0 N 0.616 0.457 None gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/A 22846 Fn3-54 6 rs757698964 0.4444 -0.414 1.0 N 0.616 0.457 None gnomAD-4.0.0 6.57575E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
G/S 23045 Fn3-55 6 rs762347167 0.2699 -0.912 1.0 N 0.747 0.381 0.307016933798 gnomAD-2.1.1 4.04E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
G/S 23045 Fn3-55 6 rs762347167 0.2699 -0.912 1.0 N 0.747 0.381 0.307016933798 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
G/S 23045 Fn3-55 6 rs762347167 0.2699 -0.912 1.0 N 0.747 0.381 0.307016933798 gnomAD-4.0.0 2.56508E-06 None None None None N None 3.38776E-05 0 None 0 0 None 0 0 0 0 0
D/V 23537 Fn3-59 6 rs1193472633 0.1657 0.213 0.638 N 0.759 0.288 0.504968073517 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
T/S 23731 Fn3-60 6 None 0.1075 None 0.549 N 0.543 0.13 0.156986980423 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
G/C 23831 Fn3-61 6 rs1200630554 0.4431 -0.456 1.0 D 0.769 0.567 0.757097561137 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
G/C 23831 Fn3-61 6 rs1200630554 0.4431 -0.456 1.0 D 0.769 0.567 0.757097561137 gnomAD-4.0.0 6.84588E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9979E-07 0 0
G/V 23831 Fn3-61 6 rs746618179 0.6178 0.108 1.0 N 0.803 0.549 0.751024834577 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
G/V 23831 Fn3-61 6 rs746618179 0.6178 0.108 1.0 N 0.803 0.549 0.751024834577 gnomAD-4.0.0 4.78022E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72354E-06 0 3.02755E-05
G/R 23929 Fn3-62 6 rs969302991 0.5338 -0.924 1.0 N 0.836 0.475 0.620070164782 gnomAD-2.1.1 1.21E-05 None None None None N None 0 2.9E-05 None 0 0 None 0 None 4.64E-05 8.89E-06 0
G/R 23929 Fn3-62 6 rs969302991 0.5338 -0.924 1.0 N 0.836 0.475 0.620070164782 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
G/R 23929 Fn3-62 6 rs969302991 0.5338 -0.924 1.0 N 0.836 0.475 0.620070164782 gnomAD-4.0.0 3.03713E-05 None None None None N None 0 5.003E-05 None 0 0 None 3.12539E-05 0 3.72991E-05 0 0
E/K 24127 Fn3-63 6 rs149763294 0.1086 -0.979 0.999 N 0.632 0.311 None gnomAD-2.1.1 4.89425E-04 None None None None N None 1.8046E-03 9.08147E-04 None 1.564E-03 0 None 0 None 4.22E-05 2.93526E-04 7.75675E-04
E/K 24127 Fn3-63 6 rs149763294 0.1086 -0.979 0.999 N 0.632 0.311 None gnomAD-3.1.2 8.2849E-04 None None None None N None 1.8826E-03 1.31044E-03 0 1.72911E-03 0 None 0 0 3.08878E-04 0 4.78469E-04
E/K 24127 Fn3-63 6 rs149763294 0.1086 -0.979 0.999 N 0.632 0.311 None 1000 genomes 9.98403E-04 None None None None N None 1.5E-03 2.9E-03 None None 0 1E-03 None None None 0 None
E/K 24127 Fn3-63 6 rs149763294 0.1086 -0.979 0.999 N 0.632 0.311 None gnomAD-4.0.0 2.84901E-04 None None None None N None 1.80633E-03 9.49078E-04 None 1.47726E-03 0 None 0 1.19007E-03 1.56915E-04 0 5.72625E-04
K/Q 24227 Fn3-64 6 rs1333523637 0.1038 -0.396 0.016 N 0.19 0.064 0.219573609325 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.49E-05 0
K/Q 24227 Fn3-64 6 rs1333523637 0.1038 -0.396 0.016 N 0.19 0.064 0.219573609325 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
K/Q 24227 Fn3-64 6 rs1333523637 0.1038 -0.396 0.016 N 0.19 0.064 0.219573609325 gnomAD-4.0.0 2.92786E-06 None None None None N None 0 0 None 0 0 None 0 0 5.35272E-06 0 0
Q/E 24524 Fn3-66 6 None 0.1226 None 0.979 N 0.554 0.224 0.341460817117 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
Q/K 24524 Fn3-66 6 rs753429609 0.0888 None 0.991 N 0.596 0.316 0.353125101423 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
G/R 24621 Fn3-67 6 rs776476061 0.5588 -1.114 1.0 N 0.784 0.336 0.5732715451 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 5.61E-05 None 3.27E-05 None 0 0 0
G/R 24621 Fn3-67 6 rs776476061 0.5588 -1.114 1.0 N 0.784 0.336 0.5732715451 Huang (2021) None Other comp het with Y4418* None None N Genetic analysis of NMD patients; variant prioritisation; no validation None None None None None None None None None None None
G/R 24621 Fn3-67 6 rs776476061 0.5588 -1.114 1.0 N 0.784 0.336 0.5732715451 gnomAD-4.0.0 7.5294E-06 None None None None N None 0 0 None 0 2.52666E-05 None 0 0 0 1.04408E-04 1.65739E-05
T/A 24813 Fn3-68 6 rs750126076 0.0815 -0.695 0.004 N 0.29 0.087 0.143124449307 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
T/A 24813 Fn3-68 6 rs750126076 0.0815 -0.695 0.004 N 0.29 0.087 0.143124449307 gnomAD-4.0.0 3.42161E-06 None None None None N None 0 0 None 0 0 None 1.8735E-05 0 0 4.63779E-05 0
T/I 24813 Fn3-68 6 None 0.1194 None 0.81 N 0.63 0.167 0.24896430686 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
T/N 24813 Fn3-68 6 rs1559405404 0.1383 None 0.549 N 0.563 0.124 0.20549828249 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
T/P 24813 Fn3-68 6 rs750126076 0.4454 -0.16 0.896 N 0.629 0.233 0.263612267334 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
T/P 24813 Fn3-68 6 rs750126076 0.4454 -0.16 0.896 N 0.629 0.233 0.263612267334 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 9.41E-05 0 0 0 0
T/P 24813 Fn3-68 6 rs750126076 0.4454 -0.16 0.896 N 0.629 0.233 0.263612267334 gnomAD-4.0.0 9.91699E-06 None None None None N None 0 0 None 0 0 None 1.56245E-05 0 1.27161E-05 0 0
G/A 25011 Fn3-70 6 None 0.3794 None 1.0 N 0.647 0.387 0.374255764437 gnomAD-4.0.0 1.59192E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
G/E 25011 Fn3-70 6 rs1267255162 0.6354 -1.867 1.0 N 0.871 0.448 0.542007956216 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.97E-05 0 None 0 None 0 0 0
G/E 25011 Fn3-70 6 rs1267255162 0.6354 -1.867 1.0 N 0.871 0.448 0.542007956216 gnomAD-4.0.0 3.18384E-06 None None None None N None 0 0 None 9.53652E-05 0 None 0 0 0 0 0
G/R 25011 Fn3-70 6 rs1448093257 0.7878 -1.087 1.0 N 0.858 0.489 0.686066944425 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
G/R 25011 Fn3-70 6 rs1448093257 0.7878 -1.087 1.0 N 0.858 0.489 0.686066944425 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
G/R 25011 Fn3-70 6 rs1448093257 0.7878 -1.087 1.0 N 0.858 0.489 0.686066944425 gnomAD-4.0.0 6.57505E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
E/K 25209 Fn3-71 6 rs773767237 0.1851 -0.765 0.008 N 0.405 0.127 0.176091768786 gnomAD-2.1.1 1.21E-05 None None None None N None 0 5.81E-05 None 9.97E-05 0 None 0 None 0 0 0
E/K 25209 Fn3-71 6 rs773767237 0.1851 -0.765 0.008 N 0.405 0.127 0.176091768786 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 4.78927E-04
E/K 25209 Fn3-71 6 rs773767237 0.1851 -0.765 0.008 N 0.405 0.127 0.176091768786 gnomAD-4.0.0 1.15378E-05 None None None None N None 0 1.01778E-04 None 0 0 None 0 0 0 0 8.53922E-05
N/D 25410 Fn3-73 6 rs749561648 0.309 -0.545 0.981 N 0.509 0.211 0.36893422563 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
N/D 25410 Fn3-73 6 rs749561648 0.309 -0.545 0.981 N 0.509 0.211 0.36893422563 gnomAD-4.0.0 1.16341E-05 None None None None N None 0 0 None 0 0 None 0 0 1.52929E-05 0 0
N/I 25410 Fn3-73 6 rs397517706 0.1386 0.353 0.056 N 0.559 0.246 0.592484638094 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
N/I 25410 Fn3-73 6 rs397517706 0.1386 0.353 0.056 N 0.559 0.246 0.592484638094 gnomAD-4.0.0 4.77622E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.29984E-05 0
N/K 25410 Fn3-73 6 None 0.4466 None 0.983 N 0.661 0.258 0.263140351381 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
V/A 25606 Fn3-74 6 rs1343757002 0.1131 None None N 0.082 0.059 0.208000267992 gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
V/A 25606 Fn3-74 6 rs1343757002 0.1131 None None N 0.082 0.059 0.208000267992 gnomAD-4.0.0 1.31465E-05 None None None None N None 4.82509E-05 0 None 0 0 None 0 0 0 0 0
V/I 25606 Fn3-74 6 rs794729501 0.0699 -0.745 None N 0.121 0.051 0.234412748748 gnomAD-2.1.1 4.03E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
V/I 25606 Fn3-74 6 rs794729501 0.0699 -0.745 None N 0.121 0.051 0.234412748748 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 6.56E-05 0 0 0 None 0 0 0 0 0
V/I 25606 Fn3-74 6 rs794729501 0.0699 -0.745 None N 0.121 0.051 0.234412748748 gnomAD-4.0.0 7.44128E-06 None None None None N None 1.06852E-04 1.6695E-05 None 0 2.22936E-05 None 0 0 1.69604E-06 0 0
V/L 25606 Fn3-74 6 rs794729501 0.1025 -0.749 0.002 N 0.313 0.04 0.110078149338 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 0 0
V/L 25606 Fn3-74 6 rs794729501 0.1025 -0.749 0.002 N 0.313 0.04 0.110078149338 gnomAD-4.0.0 6.84686E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16239E-05 0
G/R 25703 Fn3-75 6 None 0.6271 None 0.931 N 0.688 0.169 0.445007932271 gnomAD-4.0.0 1.36884E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79928E-06 0 0
K/E 25895 Fn3-76 6 rs1706799678 0.0959 None 0.042 N 0.405 0.055 0.166414681773 gnomAD-4.0.0 1.59231E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85969E-06 0 0
K/T 25895 Fn3-76 6 rs751395038 0.0719 -1.207 None N 0.293 0.078 0.171388866994 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
K/T 25895 Fn3-76 6 rs751395038 0.0719 -1.207 None N 0.293 0.078 0.171388866994 gnomAD-4.0.0 3.18459E-06 None None None None N None 0 2.28822E-05 None 0 0 None 0 0 2.85971E-06 0 0
G/C 25995 Fn3-77 6 None 0.7131 None 1.0 D 0.814 0.443 0.748405412012 gnomAD-4.0.0 1.59181E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85935E-06 0 0
G/D 25995 Fn3-77 6 rs745801476 0.9313 -1.267 0.45 N 0.529 0.292 0.230578612272 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
G/D 25995 Fn3-77 6 rs745801476 0.9313 -1.267 0.45 N 0.529 0.292 0.230578612272 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
G/D 25995 Fn3-77 6 rs745801476 0.9313 -1.267 0.45 N 0.529 0.292 0.230578612272 gnomAD-4.0.0 6.57877E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47132E-05 0 0
G/S 25995 Fn3-77 6 None 0.2435 None 0.997 N 0.693 0.327 0.233150807113 gnomAD-4.0.0 1.59181E-06 None None None None N None 0 2.28676E-05 None 0 0 None 0 0 0 0 0
G/V 25995 Fn3-77 6 rs745801476 0.8512 0.01 0.999 N 0.829 0.458 0.653206263661 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
G/V 25995 Fn3-77 6 rs745801476 0.8512 0.01 0.999 N 0.829 0.458 0.653206263661 gnomAD-4.0.0 1.36863E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99575E-07 1.15939E-05 0
G/R 26093 Fn3-78 6 rs757813739 0.8547 -0.679 1.0 N 0.795 0.492 0.491996647052 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 9.95E-05 0 None 0 None 0 8.88E-06 0
G/R 26093 Fn3-78 6 rs757813739 0.8547 -0.679 1.0 N 0.795 0.492 0.491996647052 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
G/R 26093 Fn3-78 6 rs757813739 0.8547 -0.679 1.0 N 0.795 0.492 0.491996647052 gnomAD-4.0.0 6.19836E-06 None None None None N None 0 0 None 3.37929E-05 0 None 0 0 7.62978E-06 0 0
G/A 26785 Fn3-83 6 None 0.2035 None 0.996 N 0.692 0.395 0.284539287134 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
G/R 26785 Fn3-83 6 None 0.4549 None 1.0 N 0.89 0.47 0.445007932271 gnomAD-4.0.0 4.10571E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39745E-06 0 0
V/A 26977 Fn3-84 6 rs774769114 0.0813 -1.566 0.012 N 0.54 0.045 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
V/A 26977 Fn3-84 6 rs774769114 0.0813 -1.566 0.012 N 0.54 0.045 None gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
V/A 26977 Fn3-84 6 rs774769114 0.0813 -1.566 0.012 N 0.54 0.045 None gnomAD-4.0.0 3.71874E-06 None None None None N None 4.00513E-05 0 None 0 0 None 0 0 2.54307E-06 0 0
V/F 26977 Fn3-84 6 None 0.1753 None 0.295 D 0.619 0.076 0.424549175451 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/G 26977 Fn3-84 6 rs774769114 0.124 None 0.055 N 0.643 0.109 0.414539908741 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 1.47E-05 0 0
V/G 26977 Fn3-84 6 rs774769114 0.124 None 0.055 N 0.643 0.109 0.414539908741 gnomAD-4.0.0 2.47916E-06 None None None None N None 0 1.66789E-05 None 0 0 None 0 0 1.69538E-06 0 1.60159E-05
V/I 26977 Fn3-84 6 None 0.0797 None 0.029 N 0.573 0.021 0.18995819373 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
G/E 27077 Fn3-85 6 rs866460539 0.92 -1.595 1.0 N 0.793 0.456 0.443592365053 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
G/E 27077 Fn3-85 6 rs866460539 0.92 -1.595 1.0 N 0.793 0.456 0.443592365053 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
G/E 27077 Fn3-85 6 rs866460539 0.92 -1.595 1.0 N 0.793 0.456 0.443592365053 gnomAD-4.0.0 2.03002E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40991E-06 0 0
G/R 27077 Fn3-85 6 rs878898668 0.9206 -1.013 1.0 N 0.779 0.503 0.617691798299 gnomAD-2.1.1 1.62E-05 None None None None N None 1.94099E-04 2.92E-05 None 0 0 None 0 None 0 0 0
G/R 27077 Fn3-85 6 rs878898668 0.9206 -1.013 1.0 N 0.779 0.503 0.617691798299 gnomAD-3.1.2 3.29E-05 None None None None N None 9.65E-05 0 0 0 0 None 0 0 1.47E-05 0 0
G/R 27077 Fn3-85 6 rs878898668 0.9206 -1.013 1.0 N 0.779 0.503 0.617691798299 gnomAD-4.0.0 1.41165E-05 None None None None N None 1.35598E-04 1.69993E-05 None 0 0 None 0 0 4.79136E-06 0 0
G/V 27077 Fn3-85 6 None 0.8527 None 1.0 N 0.799 0.498 0.591405023974 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
G/A 27175 Fn3-86 6 None 0.4138 None 1.0 N 0.61 0.393 0.408853032482 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
G/D 27175 Fn3-86 6 rs1704984751 0.7062 None 1.0 N 0.752 0.467 0.431931272081 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78927E-04
G/D 27175 Fn3-86 6 rs1704984751 0.7062 None 1.0 N 0.752 0.467 0.431931272081 gnomAD-4.0.0 6.57471E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78927E-04
G/S 27175 Fn3-86 6 rs749305586 0.2235 -1.074 1.0 N 0.651 0.369 0.367612772649 gnomAD-2.1.1 1.21E-05 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 1.78E-05 0
G/S 27175 Fn3-86 6 rs749305586 0.2235 -1.074 1.0 N 0.651 0.369 0.367612772649 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
G/S 27175 Fn3-86 6 rs749305586 0.2235 -1.074 1.0 N 0.651 0.369 0.367612772649 gnomAD-4.0.0 8.05774E-06 None None None None N None 0 5.00367E-05 None 0 0 None 0 0 7.62914E-06 0 1.60159E-05
S/L 27474 Fn3-88 6 rs781507920 0.1162 None 0.97 N 0.739 0.291 0.470237251169 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
S/G 27575 Fn3-89 6 rs763068189 0.0732 -0.789 0.334 N 0.428 0.154 0.230578612272 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
S/G 27575 Fn3-89 6 rs763068189 0.0732 -0.789 0.334 N 0.428 0.154 0.230578612272 gnomAD-4.0.0 3.18304E-06 None None None None N None 0 2.28718E-05 None 0 0 None 0 0 2.85845E-06 0 0
G/R 27868 Fn3-91 6 None 0.4862 None 0.999 D 0.863 0.291 0.474722520063 gnomAD-4.0.0 6.85767E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00328E-07 0 0
G/D 28060 Fn3-92 6 rs758626435 0.4435 -1.546 0.822 N 0.757 0.267 0.320256813643 gnomAD-2.1.1 7.16E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
G/D 28060 Fn3-92 6 rs758626435 0.4435 -1.546 0.822 N 0.757 0.267 0.320256813643 gnomAD-3.1.2 3.94E-05 None None None None N None 1.44823E-04 0 0 0 0 None 0 0 0 0 0
G/D 28060 Fn3-92 6 rs758626435 0.4435 -1.546 0.822 N 0.757 0.267 0.320256813643 gnomAD-4.0.0 1.02573E-05 None None None None N None 1.18447E-04 0 None 0 0 None 0 0 2.3952E-06 0 0
T/A 28555 Fn3-96 6 None 0.0639 None 0.78 N 0.588 0.156 0.198526703765 gnomAD-4.0.0 1.59219E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85894E-06 0 0
T/K 28555 Fn3-96 6 None 0.0933 None 0.137 N 0.34 0.155 0.229924730088 gnomAD-4.0.0 6.8437E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99536E-07 0 0
T/M 28555 Fn3-96 6 rs778254289 0.0898 0.019 1.0 N 0.692 0.279 0.347879110917 gnomAD-2.1.1 2.02E-05 None None None None N None 0 0 None 0 5.61E-05 None 9.82E-05 None 0 8.91E-06 0
T/M 28555 Fn3-96 6 rs778254289 0.0898 0.019 1.0 N 0.692 0.279 0.347879110917 gnomAD-4.0.0 9.58118E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19629E-06 5.79912E-05 1.65706E-05
S/F 28656 Fn3-97 6 rs1703122719 0.3522 None 0.939 N 0.631 0.342 0.638346370533 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
S/F 28656 Fn3-97 6 rs1703122719 0.3522 None 0.939 N 0.631 0.342 0.638346370533 gnomAD-4.0.0 6.57471E-06 None None None None N None 0 6.55308E-05 None 0 0 None 0 0 0 0 0
S/T 28656 Fn3-97 6 None 0.1 None 0.003 N 0.098 0.036 0.117506650769 gnomAD-4.0.0 2.05273E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69854E-06 0 0
T/N 28850 Fn3-98 6 rs377049333 0.0817 None 0.007 N 0.275 0.105 None 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
T/A 29142 Fn3-100 6 rs1196119784 0.0668 None 0.019 N 0.361 0.072 0.137902524267 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14784E-04 0 None 0 0 None 0 None 0 0 0
T/A 29142 Fn3-100 6 rs1196119784 0.0668 None 0.019 N 0.361 0.072 0.137902524267 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 1.92753E-04 None 0 0 0 0 0
T/A 29142 Fn3-100 6 rs1196119784 0.0668 None 0.019 N 0.361 0.072 0.137902524267 gnomAD-4.0.0 4.05955E-06 None None None None N None 1.74691E-05 0 None 0 1.13404E-04 None 0 0 2.40978E-06 0 0
S/T 29242 Fn3-101 6 rs1416855828 0.2913 None 0.999 N 0.557 0.216 0.225902525712 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
S/T 29242 Fn3-101 6 rs1416855828 0.2913 None 0.999 N 0.557 0.216 0.225902525712 gnomAD-4.0.0 2.02983E-06 None None None None N None 1.74679E-05 0 None 0 0 None 0 0 1.20492E-06 0 0
G/A 29538 Fn3-103 6 rs1206917206 0.0658 -0.241 0.001 N 0.273 0.082 0.0846915920261 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
G/C 29538 Fn3-103 6 None 0.1093 None 0.928 N 0.705 0.194 0.425851741357 gnomAD-4.0.0 1.59139E-06 None None None None N None 0 0 None 0 2.773E-05 None 0 0 0 0 0
G/S 29538 Fn3-103 6 None 0.0758 None 0.001 N 0.446 0.038 0.0482279557977 gnomAD-4.0.0 3.18279E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71615E-06 0 0
G/S 29638 Fn3-104 6 rs1328502977 0.0712 -1.022 None N 0.287 0.059 0.0551355673512 gnomAD-2.1.1 4.28E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.42E-06 0
G/S 29638 Fn3-104 6 rs1328502977 0.0712 -1.022 None N 0.287 0.059 0.0551355673512 gnomAD-4.0.0 1.38067E-06 None None None None N None 0 2.35239E-05 None 0 0 None 0 0 9.03592E-07 0 0
A/P 29739 Fn3-105 6 rs1700259287 0.5704 None 0.891 N 0.559 0.183 0.178374595973 gnomAD-4.0.0 1.63036E-06 None None None None N None 0 2.3406E-05 None 0 0 None 0 0 0 0 0
A/S 29739 Fn3-105 6 None 0.0785 None 0.062 N 0.148 0.072 0.0482279557977 gnomAD-4.0.0 1.63036E-06 None None None None N None 0 0 None 0 0 None 0 0 2.92879E-06 0 0
R/C 30035 Fn3-107 6 rs397517747 0.1854 -0.293 0.999 N 0.603 0.371 None gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 1.11607E-04 None 0 None 0 0 0
R/C 30035 Fn3-107 6 rs397517747 0.1854 -0.293 0.999 N 0.603 0.371 None gnomAD-4.0.0 6.84189E-06 None None None None N None 0 0 None 0 2.52054E-05 None 0 0 7.19555E-06 1.15934E-05 0
R/H 30035 Fn3-107 6 rs199895320 0.1139 -1.235 0.998 N 0.536 0.281 None gnomAD-2.1.1 3.57E-05 None None None None N None 0 0 None 0 0 None 0 None 0 7.8E-05 0
R/H 30035 Fn3-107 6 rs199895320 0.1139 -1.235 0.998 N 0.536 0.281 None gnomAD-3.1.2 9.86E-05 None None None None N None 9.65E-05 6.55E-05 0 0 0 None 0 0 1.32298E-04 2.07297E-04 0
R/H 30035 Fn3-107 6 rs199895320 0.1139 -1.235 0.998 N 0.536 0.281 None gnomAD-4.0.0 4.83313E-05 None None None None N None 5.33021E-05 1.66656E-05 None 0 0 None 0 1.65071E-04 5.76358E-05 3.29395E-05 1.60031E-05
K/E 30229 Fn3-108 6 rs1311556437 0.1452 -0.223 0.986 N 0.524 0.201 0.402899589544 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
K/E 30229 Fn3-108 6 rs1311556437 0.1452 -0.223 0.986 N 0.524 0.201 0.402899589544 gnomAD-4.0.0 6.15936E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19672E-06 0 1.65711E-05
G/R 30329 Fn3-109 6 rs1178018014 0.6095 -1.042 1.0 N 0.907 0.441 0.60359086051 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
G/R 30329 Fn3-109 6 rs1178018014 0.6095 -1.042 1.0 N 0.907 0.441 0.60359086051 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 7.32654E-05
V/A 30624 Fn3-111 6 rs886055231 0.067 None 0.139 N 0.269 0.061 0.233785782151 gnomAD-4.0.0 2.81307E-06 None None None None N None 0 7.78291E-05 None 0 0 None 0 0 9.14608E-07 0 0
V/I 30624 Fn3-111 6 rs1474057900 0.0775 None 0.425 N 0.315 0.114 0.227260227426 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/I 30624 Fn3-111 6 rs1474057900 0.0775 None 0.425 N 0.315 0.114 0.227260227426 gnomAD-4.0.0 6.57151E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
G/D 30724 Fn3-112 6 None 0.3795 None 1.0 N 0.742 0.432 0.297031009988 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
G/R 30724 Fn3-112 6 rs370928582 0.4592 -0.914 1.0 N 0.795 0.458 None gnomAD-2.1.1 1.82E-05 None None None None N None 2.07348E-04 0 None 0 0 None 0 None 0 0 0
G/R 30724 Fn3-112 6 rs370928582 0.4592 -0.914 1.0 N 0.795 0.458 None gnomAD-3.1.2 1.18321E-04 None None None None N None 4.34447E-04 0 0 0 0 None 0 0 0 0 0
G/R 30724 Fn3-112 6 rs370928582 0.4592 -0.914 1.0 N 0.795 0.458 None gnomAD-4.0.0 1.55823E-05 None None None None N None 3.08725E-04 0 None 0 0 None 0 0 1.70414E-06 0 0
G/S 30724 Fn3-112 6 rs370928582 0.1249 -1.16 1.0 N 0.669 0.374 0.234412748748 gnomAD-2.1.1 4.1E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.07E-06 0
G/S 30724 Fn3-112 6 rs370928582 0.1249 -1.16 1.0 N 0.669 0.374 0.234412748748 gnomAD-4.0.0 1.17059E-05 None None None None N None 0 0 None 0 0 None 0 0 1.53765E-05 0 0
T/I 30826 Fn3-113 6 None 0.1337 None 0.317 N 0.586 0.109 0.247322355667 gnomAD-4.0.0 3.18242E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71592E-06 0 0
G/C 31021 Fn3-114 6 None 0.2976 None 1.0 N 0.793 0.456 0.604839314244 gnomAD-4.0.0 3.18222E-06 None None None None N None 0 0 None 0 5.54539E-05 None 0 0 0 0 0
G/D 31021 Fn3-114 6 rs1283096478 0.7585 -1.699 1.0 N 0.838 0.346 0.338110398507 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
G/D 31021 Fn3-114 6 rs1283096478 0.7585 -1.699 1.0 N 0.838 0.346 0.338110398507 gnomAD-4.0.0 1.59111E-06 None None None None N None 0 0 None 0 2.77285E-05 None 0 0 0 0 0
R/G 31118 Fn3-115 6 rs761397221 0.2051 None 0.117 N 0.517 0.242 0.202949470691 gnomAD-4.0.0 2.73674E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69832E-06 0 1.65651E-05
R/K 31118 Fn3-115 6 rs763830779 0.0681 -0.139 None N 0.124 0.07 0.110078149338 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
R/K 31118 Fn3-115 6 rs763830779 0.0681 -0.139 None N 0.124 0.07 0.110078149338 gnomAD-4.0.0 1.59113E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
R/S 31118 Fn3-115 6 rs2154147269 0.4556 None 0.027 N 0.518 0.11 0.0716867268079 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07039E-04 0
R/S 31118 Fn3-115 6 rs2154147269 0.4556 None 0.027 N 0.518 0.11 0.0716867268079 gnomAD-4.0.0 2.56178E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.6801E-05 0
T/A 31413 Fn3-117 6 rs1361033922 0.0748 -0.794 0.64 N 0.494 0.163 0.233785782151 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 3.32E-05 None 0 0 0
T/A 31413 Fn3-117 6 rs1361033922 0.0748 -0.794 0.64 N 0.494 0.163 0.233785782151 gnomAD-4.0.0 2.7443E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.65864E-05 0
G/D 31511 Fn3-118 6 None 0.7887 None 1.0 N 0.818 0.429 0.446010312102 gnomAD-4.0.0 1.66789E-06 None None None None N None 0 0 None 0 2.80568E-05 None 0 0 0 0 0
G/S 31812 Fn3-120 6 rs754416007 0.1473 -1.28 1.0 N 0.665 0.328 0.310458034454 gnomAD-2.1.1 1.61E-05 None None None None N None 6.46E-05 5.8E-05 None 0 0 None 0 None 0 8.89E-06 0
G/S 31812 Fn3-120 6 rs754416007 0.1473 -1.28 1.0 N 0.665 0.328 0.310458034454 gnomAD-4.0.0 1.64306E-05 None None None None N None 5.98444E-05 4.47868E-05 None 0 0 None 0 0 1.61992E-05 1.16001E-05 1.65744E-05
T/I 32404 Fn3-124 6 rs752957686 0.1017 0.243 None N 0.295 0.107 0.132336055621 gnomAD-2.1.1 4.08E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.02E-06 0
T/I 32404 Fn3-124 6 rs752957686 0.1017 0.243 None N 0.295 0.107 0.132336055621 gnomAD-4.0.0 2.75297E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61901E-06 0 0
E/K 32504 Fn3-125 6 rs768612570 0.1174 -0.359 0.117 N 0.393 0.141 0.264081493735 gnomAD-2.1.1 1.65E-05 None None None None N None 0 0 None 0 0 None 1.00827E-04 None 0 9.12E-06 0
E/K 32504 Fn3-125 6 rs768612570 0.1174 -0.359 0.117 N 0.393 0.141 0.264081493735 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.13565E-04 0
E/K 32504 Fn3-125 6 rs768612570 0.1174 -0.359 0.117 N 0.393 0.141 0.264081493735 gnomAD-4.0.0 1.28914E-05 None None None None N None 0 0 None 0 0 None 0 0 2.40974E-06 1.21898E-04 0
E/K 32800 Fn3-127 6 None 0.2674 None 0.992 N 0.651 0.295 0.319686207203 gnomAD-4.0.0 1.08029E-05 None None None None N None 0 0 None 0 0 None 0 0 1.18125E-05 0 0
S/G 32901 Fn3-128 6 None 0.0853 None 0.805 N 0.475 0.182 0.229264304666 gnomAD-4.0.0 6.84378E-07 None None None None N None 0 0 None 0 2.51965E-05 None 0 0 0 0 0
S/I 32901 Fn3-128 6 None 0.1639 None 0.983 N 0.778 0.266 0.358340041657 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
S/R 32901 Fn3-128 6 rs1450732956 0.6754 -0.475 0.967 N 0.732 0.264 0.31501682445 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
S/R 32901 Fn3-128 6 rs1450732956 0.6754 -0.475 0.967 N 0.732 0.264 0.31501682445 gnomAD-4.0.0 6.84378E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99703E-07 0 0
G/E 33003 Fn3-129 6 rs775787996 0.4722 -2.11 1.0 N 0.877 0.391 0.458734620958 gnomAD-2.1.1 4.08E-06 None None None None N None 0 0 None 0 0 None 3.37E-05 None 0 0 0
G/E 33003 Fn3-129 6 rs775787996 0.4722 -2.11 1.0 N 0.877 0.391 0.458734620958 gnomAD-4.0.0 1.37369E-06 None None None None N None 0 0 None 0 0 None 0 0 9.0198E-07 1.17222E-05 0
G/A 33397 Fn3-131 6 None 0.1533 None 0.001 N 0.154 0.081 0.149567049428 gnomAD-4.0.0 7.44605E-07 None None None None N None 0 0 None 0 0 None 0 0 9.44194E-07 0 0
G/D 33397 Fn3-131 6 rs1356361274 0.3181 None 0.324 N 0.541 0.122 0.178374595973 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
G/D 33397 Fn3-131 6 rs1356361274 0.3181 None 0.324 N 0.541 0.122 0.178374595973 gnomAD-4.0.0 1.33768E-06 None None None None N None 0 0 None 0 0 None 0 0 1.77444E-06 0 0
G/S 33397 Fn3-131 6 None 0.1193 None 0.001 N 0.321 0.047 0.12205267543 gnomAD-4.0.0 1.48799E-06 None None None None N None 0 0 None 0 0 None 0 0 1.88726E-06 0 0
R/K 33694 Fn3-132 6 rs747732590 0.0972 -0.321 0.048 N 0.202 0.146 0.264547087235 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
R/K 33694 Fn3-132 6 rs747732590 0.0972 -0.321 0.048 N 0.202 0.146 0.264547087235 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
R/K 33694 Fn3-132 6 rs747732590 0.0972 -0.321 0.048 N 0.202 0.146 0.264547087235 gnomAD-4.0.0 5.12394E-06 None None None None N None 1.69125E-05 0 None 0 0 None 0 0 4.78556E-06 0 2.84398E-05
R/T 33694 Fn3-132 6 rs747732590 0.2559 None 0.993 N 0.715 0.288 0.568072681961 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
R/T 33694 Fn3-132 6 rs747732590 0.2559 None 0.993 N 0.715 0.288 0.568072681961 gnomAD-4.0.0 6.57065E-06 None None None None N None 0 6.54707E-05 None 0 0 None 0 0 0 0 0

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.