Structural position:

  • Domain Type: Fn3
  • Aligned Position: 88
  • 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
S/R 15713 Fn3-1 57 rs1576516161 0.4525 None 0.968 N 0.59 0.295 0.229924730088 gnomAD-4.0.0 1.59341E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86243E-06 0 0
D/N 15815 Fn3-2 58 rs1429370972 0.1092 -0.423 0.822 N 0.489 0.282 0.227260227426 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
D/N 15815 Fn3-2 58 rs1429370972 0.1092 -0.423 0.822 N 0.489 0.282 0.227260227426 gnomAD-4.0.0 4.10762E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39953E-06 0 0
D/E 16111 Fn3-4 57 None 0.1791 None 0.014 N 0.251 0.058 0.0666544352282 gnomAD-4.0.0 1.59582E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43575E-05 0
D/N 16111 Fn3-4 57 rs769898196 0.1134 -0.307 0.032 N 0.215 0.13 0.143124449307 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.74E-05 None 0 0 None 0 None 0 0 0
D/N 16111 Fn3-4 57 rs769898196 0.1134 -0.307 0.032 N 0.215 0.13 0.143124449307 gnomAD-4.0.0 3.42542E-06 None None None None N None 0 6.72706E-05 None 0 0 None 0 0 1.80062E-06 0 0
D/Y 16407 Fn3-6 57 None 0.2643 None 0.989 D 0.441 0.326 0.570648228706 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
D/E 16507 Fn3-7 58 None 0.3836 None 1.0 N 0.411 0.229 0.281780670237 gnomAD-4.0.0 1.20034E-06 None None None None I None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
D/Y 16507 Fn3-7 58 None 0.6834 None 1.0 N 0.687 0.458 0.529011059296 gnomAD-4.0.0 6.84825E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00121E-07 0 0
T/I 16607 Fn3-8 57 rs747514142 0.2404 0.142 0.007 N 0.188 0.18 0.257786959452 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
T/I 16607 Fn3-8 57 rs747514142 0.2404 0.142 0.007 N 0.188 0.18 0.257786959452 gnomAD-4.0.0 3.18758E-06 None None None None N None 0 0 None 0 2.79158E-05 None 0 0 2.8619E-06 0 0
D/N 16707 Fn3-9 57 rs1158553720 0.2951 -0.557 0.999 N 0.657 0.223 0.256793551483 gnomAD-2.1.1 3.19E-05 None None None None I None 0 0 None 0 6.61376E-04 None 0 None 0 0 0
D/N 16707 Fn3-9 57 rs1158553720 0.2951 -0.557 0.999 N 0.657 0.223 0.256793551483 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 1.95313E-04 None 0 0 0 0 0
D/N 16707 Fn3-9 57 rs1158553720 0.2951 -0.557 0.999 N 0.657 0.223 0.256793551483 gnomAD-4.0.0 4.34139E-06 None None None None I None 0 0 None 0 8.97787E-05 None 0 0 2.54401E-06 0 0
D/N 16808 Fn3-10 58 None 0.1504 None 0.999 N 0.66 0.291 0.394837016283 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
D/E 16909 Fn3-11 58 None 0.1607 None 0.198 N 0.217 0.064 0.1749357433 gnomAD-4.0.0 1.59293E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86149E-06 0 0
D/H 16909 Fn3-11 58 rs2056319066 0.5304 None 1.0 N 0.681 0.359 0.350524144436 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 2.88184E-04 0 None 0 0 0 0 0
D/H 16909 Fn3-11 58 rs2056319066 0.5304 None 1.0 N 0.681 0.359 0.350524144436 gnomAD-4.0.0 3.84757E-06 None None None None I None 0 0 None 1.2278E-04 0 None 0 0 0 0 0
K/E 17103 Fn3-12 57 rs769721025 0.362 -0.009 0.977 N 0.445 0.273 0.236278675362 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
K/E 17103 Fn3-12 57 rs769721025 0.362 -0.009 0.977 N 0.445 0.273 0.236278675362 gnomAD-4.0.0 3.18555E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72315E-06 0 0
K/R 17103 Fn3-12 57 rs761668415 0.0928 -0.186 0.235 N 0.235 0.072 0.24896430686 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
K/R 17103 Fn3-12 57 rs761668415 0.0928 -0.186 0.235 N 0.235 0.072 0.24896430686 gnomAD-4.0.0 1.59277E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
I/V 17204 Fn3-13 58 rs1383602491 0.0667 -0.64 None N 0.107 0.061 0.319402600006 gnomAD-3.1.2 6.59E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/V 17204 Fn3-13 58 rs1383602491 0.0667 -0.64 None N 0.107 0.061 0.319402600006 gnomAD-4.0.0 1.8601E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54395E-06 0 0
H/R 17427 Fn3-14 59 rs1387146828 0.143 -0.517 0.029 N 0.253 0.179 0.245101548738 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
H/R 17427 Fn3-14 59 rs1387146828 0.143 -0.517 0.029 N 0.253 0.179 0.245101548738 gnomAD-4.0.0 1.59384E-06 None None None None I None 0 2.28969E-05 None 0 0 None 0 0 0 0 0
A/T 17526 Fn3-15 57 rs1313172755 0.0627 -0.727 0.012 N 0.259 0.042 0.143124449307 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
A/T 17526 Fn3-15 57 rs1313172755 0.0627 -0.727 0.012 N 0.259 0.042 0.143124449307 gnomAD-4.0.0 3.18894E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86993E-05 0
V/I 17626 Fn3-16 58 None 0.0816 None None N 0.159 0.156 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
T/A 17919 Fn3-18 58 rs199605903 0.0643 -0.517 0.042 N 0.243 0.239 0.115124310173 gnomAD-2.1.1 7.15E-06 None None None None N None 0 2.83E-05 None 0 0 None 0 None 0 7.83E-06 0
T/A 17919 Fn3-18 58 rs199605903 0.0643 -0.517 0.042 N 0.243 0.239 0.115124310173 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
T/A 17919 Fn3-18 58 rs199605903 0.0643 -0.517 0.042 N 0.243 0.239 0.115124310173 gnomAD-4.0.0 1.73665E-05 None None None None N None 0 1.66884E-05 None 0 0 None 0 0 2.03579E-05 0 4.80785E-05
T/I 17919 Fn3-18 58 rs1192046645 0.1602 0.018 0.096 N 0.407 0.236 0.1749357433 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
T/I 17919 Fn3-18 58 rs1192046645 0.1602 0.018 0.096 N 0.407 0.236 0.1749357433 gnomAD-4.0.0 6.58345E-06 None None None None N None 2.41581E-05 0 None 0 0 None 0 0 0 0 0
T/N 17919 Fn3-18 58 rs1192046645 0.0728 None None N 0.14 0.207 0.126345400529 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
T/N 17919 Fn3-18 58 rs1192046645 0.0728 None None N 0.14 0.207 0.126345400529 gnomAD-4.0.0 2.03044E-06 None None None None N None 0 0 None 0 0 None 0 0 2.41017E-06 0 0
T/S 17919 Fn3-18 58 None 0.0725 None 0.042 N 0.286 0.206 0.101711395817 gnomAD-4.0.0 6.84742E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00096E-07 0 0
E/Q 18123 Fn3-19 59 None 0.296 None 0.638 N 0.533 0.234 0.184867976434 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/D 18228 Fn3-20 63 rs2154194670 0.4319 None 0.946 N 0.754 0.369 0.270447802918 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
G/D 18228 Fn3-20 63 rs2154194670 0.4319 None 0.946 N 0.754 0.369 0.270447802918 gnomAD-4.0.0 6.57592E-06 None None None None I None 2.40639E-05 0 None 0 0 None 0 0 0 0 0
T/I 18331 Fn3-21 60 rs2053691447 0.2034 None 0.497 N 0.675 0.254 0.499218193508 gnomAD-4.0.0 1.59343E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86207E-06 0 0
S/C 18535 Fn3-22 57 rs770105954 0.1448 -0.425 0.999 N 0.556 0.363 0.344945010812 gnomAD-2.1.1 8.06E-06 None None None None N None 0 5.81E-05 None 0 0 None 0 None 0 0 0
S/C 18535 Fn3-22 57 rs770105954 0.1448 -0.425 0.999 N 0.556 0.363 0.344945010812 gnomAD-4.0.0 3.18668E-06 None None None None N None 0 4.57917E-05 None 0 0 None 0 0 0 0 0
E/K 18641 Fn3-23 63 None 0.1907 None 0.581 N 0.577 0.182 0.284539287134 gnomAD-4.0.0 6.84482E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15982E-05 0
E/K 18841 Fn3-24 58 rs376621189 0.1898 0.242 0.998 N 0.558 0.378 None gnomAD-2.1.1 4.3E-06 None None None None N None 6.57E-05 0 None 0 0 None 0 None 0 0 0
E/K 18841 Fn3-24 58 rs376621189 0.1898 0.242 0.998 N 0.558 0.378 None gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
E/K 18841 Fn3-24 58 rs376621189 0.1898 0.242 0.998 N 0.558 0.378 None gnomAD-4.0.0 2.50656E-06 None None None None N None 5.41052E-05 0 None 0 0 None 0 0 0 0 0
G/S 18945 Fn3-25 62 None 0.56 None 1.0 N 0.602 0.413 0.321393169273 gnomAD-4.0.0 1.59226E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
G/R 19045 Fn3-26 58 rs900912009 0.7963 -0.277 1.0 N 0.762 0.417 0.559961094632 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 1.98965E-04 0 None 0 None 0 0 0
G/R 19045 Fn3-26 58 rs900912009 0.7963 -0.277 1.0 N 0.762 0.417 0.559961094632 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/R 19045 Fn3-26 58 rs900912009 0.7963 -0.277 1.0 N 0.762 0.417 0.559961094632 gnomAD-4.0.0 1.53893E-05 None None None None N None 5.06928E-05 0 None 1.6372E-04 0 None 0 0 7.18497E-06 0 5.68731E-05
G/V 19045 Fn3-26 58 rs1410477544 0.4433 0.429 1.0 N 0.789 0.455 0.665216195492 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
G/V 19045 Fn3-26 58 rs1410477544 0.4433 0.429 1.0 N 0.789 0.455 0.665216195492 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/V 19045 Fn3-26 58 rs1410477544 0.4433 0.429 1.0 N 0.789 0.455 0.665216195492 gnomAD-4.0.0 2.56519E-06 None None None None N None 0 3.39236E-05 None 0 0 None 0 0 0 0 0
R/Q 19240 Fn3-27 58 rs535940583 0.2467 0.108 1.0 N 0.699 0.35 0.21279746466 gnomAD-2.1.1 4.25E-05 None None None None I None 0 0 None 0 0 None 3.51247E-04 None 0 0 0
R/Q 19240 Fn3-27 58 rs535940583 0.2467 0.108 1.0 N 0.699 0.35 0.21279746466 gnomAD-3.1.2 3.95E-05 None None None None I None 0 0 0 0 0 None 0 0 5.88E-05 4.15282E-04 0
R/Q 19240 Fn3-27 58 rs535940583 0.2467 0.108 1.0 N 0.699 0.35 0.21279746466 1000 genomes 5.99042E-04 None None None None I None 0 0 None None 0 1E-03 None None None 2E-03 None
R/Q 19240 Fn3-27 58 rs535940583 0.2467 0.108 1.0 N 0.699 0.35 0.21279746466 gnomAD-4.0.0 2.49257E-05 None None None None I None 0 0 None 0 0 None 0 0 1.02092E-05 2.91565E-04 3.21585E-05
S/N 19341 Fn3-28 58 rs536645864 0.0788 -0.141 None N 0.083 0.114 None gnomAD-2.1.1 7.64E-05 None None None None N None 0 0 None 0 0 None 5.88543E-04 None 0 8.88E-06 0
S/N 19341 Fn3-28 58 rs536645864 0.0788 -0.141 None N 0.083 0.114 None gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 2.07125E-04 0
S/N 19341 Fn3-28 58 rs536645864 0.0788 -0.141 None N 0.083 0.114 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
S/N 19341 Fn3-28 58 rs536645864 0.0788 -0.141 None N 0.083 0.114 None gnomAD-4.0.0 4.71078E-05 None None None None N None 0 0 None 0 0 None 0 1.65235E-04 1.01735E-05 6.15101E-04 1.12061E-04
K/E 19536 Fn3-29 58 None 0.2531 None 0.961 N 0.459 0.266 0.33340067248 gnomAD-4.0.0 3.18421E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86607E-05 0
Y/C 19636 Fn3-30 58 None 0.0898 None 0.873 N 0.563 0.224 0.462374447365 gnomAD-4.0.0 1.592E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85964E-06 0 0
Y/H 19636 Fn3-30 58 None 0.0963 None 0.001 N 0.227 0.089 0.149567049428 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31253E-06 0 0
E/A 19739 Fn3-31 60 None 0.1268 None 0.565 N 0.546 0.195 0.264081493735 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
N/D 20032 Fn3-33 56 rs1230376061 0.0842 None None N 0.083 0.1 0.0846915920261 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
N/D 20032 Fn3-33 56 rs1230376061 0.0842 None None N 0.083 0.1 0.0846915920261 gnomAD-4.0.0 3.09934E-06 None None None None N None 0 5.00484E-05 None 0 0 None 0 0 1.69554E-06 0 0
N/I 20032 Fn3-33 56 None 0.1914 None None N 0.156 0.252 0.36355261348 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 20228 Fn3-34 58 None 0.0785 None 0.27 N 0.281 0.064 0.238705975628 gnomAD-4.0.0 1.592E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85984E-06 0 0
D/E 20327 Fn3-35 57 None 0.1722 None 0.619 N 0.277 0.057 0.212008924253 gnomAD-4.0.0 6.85362E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00705E-07 0 0
K/E 20625 Fn3-37 57 rs2049837055 0.411 None 0.193 N 0.459 0.205 0.229924730088 gnomAD-4.0.0 1.36869E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79918E-06 0 0
T/I 20920 Fn3-39 57 rs752337479 0.1266 0.14 None N 0.181 0.101 0.250579442822 gnomAD-2.1.1 3.19E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.48E-05 0
T/I 20920 Fn3-39 57 rs752337479 0.1266 0.14 None N 0.181 0.101 0.250579442822 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
T/I 20920 Fn3-39 57 rs752337479 0.1266 0.14 None N 0.181 0.101 0.250579442822 gnomAD-4.0.0 3.10116E-06 None None None None I None 0 0 None 0 0 None 0 0 4.2396E-06 0 0
T/K 20920 Fn3-39 57 None 0.1711 None 0.117 N 0.357 0.126 0.259272394797 gnomAD-4.0.0 6.84797E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65826E-05
R/C 21127 Fn3-41 64 rs751590336 0.1404 -0.467 0.985 N 0.293 0.303 0.536240654335 gnomAD-2.1.1 1.08E-05 None None None None I None 0 2.83E-05 None 0 0 None 0 None 0 1.57E-05 0
R/C 21127 Fn3-41 64 rs751590336 0.1404 -0.467 0.985 N 0.293 0.303 0.536240654335 gnomAD-4.0.0 7.52999E-06 None None None None I None 0 2.23794E-05 None 3.82995E-05 0 None 0 0 8.09781E-06 0 0
R/H 21127 Fn3-41 64 rs201226615 0.0995 -1.034 0.004 N 0.133 0.154 0.158396225186 gnomAD-2.1.1 1.21E-05 None None None None I None 0 2.9E-05 None 0 0 None 0 None 4.65E-05 0 1.66223E-04
R/H 21127 Fn3-41 64 rs201226615 0.0995 -1.034 0.004 N 0.133 0.154 0.158396225186 gnomAD-3.1.2 1.32E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
R/H 21127 Fn3-41 64 rs201226615 0.0995 -1.034 0.004 N 0.133 0.154 0.158396225186 gnomAD-4.0.0 1.11597E-05 None None None None I None 2.66759E-05 1.66783E-05 None 0 4.47908E-05 None 1.56333E-05 0 6.78336E-06 1.09832E-05 4.804E-05
R/L 21127 Fn3-41 64 rs201226615 0.168 None 0.001 N 0.127 0.232 0.388010793773 gnomAD-4.0.0 2.05363E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79953E-06 0 1.65739E-05
D/Y 21423 Fn3-43 58 rs761820626 0.484 0.603 1.0 N 0.655 0.407 0.635861425549 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.59E-05 None 0 None 0 0 0
D/Y 21423 Fn3-43 58 rs761820626 0.484 0.603 1.0 N 0.655 0.407 0.635861425549 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 1.94175E-04 None 0 0 0 0 0
D/Y 21423 Fn3-43 58 rs761820626 0.484 0.603 1.0 N 0.655 0.407 0.635861425549 gnomAD-4.0.0 1.23989E-06 None None None None I None 0 0 None 0 2.23334E-05 None 0 0 8.47877E-07 0 0
K/E 21616 Fn3-44 58 rs761445537 0.674 0.39 0.999 N 0.557 0.391 0.268660756437 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 4.64E-05 8.91E-06 0
K/E 21616 Fn3-44 58 rs761445537 0.674 0.39 0.999 N 0.557 0.391 0.268660756437 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
K/E 21616 Fn3-44 58 rs761445537 0.674 0.39 0.999 N 0.557 0.391 0.268660756437 gnomAD-4.0.0 8.97105E-06 None None None None I None 0 0 None 0 0 None 1.56858E-05 0 1.19715E-05 0 2.8456E-05
S/L 21716 Fn3-45 58 rs13021201 0.1922 0.1 0.669 N 0.344 0.36 None gnomAD-2.1.1 2.45023E-02 None None None None N None 7.73303E-03 1.4949E-02 None 1.55009E-02 0 None 1.77159E-02 None 1.09539E-02 3.92778E-02 2.06577E-02
S/L 21716 Fn3-45 58 rs13021201 0.1922 0.1 0.669 N 0.344 0.36 None gnomAD-3.1.2 2.32567E-02 None None None None N None 8.05985E-03 1.05532E-02 5.48246E-03 1.35447E-02 1.9425E-04 None 7.91408E-03 6.32911E-03 4.09899E-02 1.65769E-02 1.72084E-02
S/L 21716 Fn3-45 58 rs13021201 0.1922 0.1 0.669 N 0.344 0.36 None 1000 genomes 1.07827E-02 None None None None N None 0 1.01E-02 None None 0 3.68E-02 None None None 1.02E-02 None
S/L 21716 Fn3-45 58 rs13021201 0.1922 0.1 0.669 N 0.344 0.36 None gnomAD-4.0.0 3.66102E-02 None None None None N None 7.22667E-03 1.34883E-02 None 1.51085E-02 1.11692E-04 None 1.25609E-02 5.61241E-03 4.47323E-02 1.88924E-02 3.09968E-02
Q/L 21816 Fn3-46 60 None 0.0959 None 0.001 N 0.223 0.202 0.420447328233 gnomAD-4.0.0 6.84874E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99954E-07 0 0
I/T 22012 Fn3-47 57 rs1356992317 0.1849 None 0.016 N 0.174 0.237 0.37479162749 gnomAD-4.0.0 1.59313E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86121E-06 0 0
E/Q 22112 Fn3-48 58 None 0.5128 None 0.946 N 0.465 0.17 0.212008924253 gnomAD-4.0.0 1.59214E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
K/Q 22410 Fn3-50 57 rs773410270 0.3442 -0.054 0.983 N 0.609 0.348 0.237489013734 gnomAD-4.0.0 3.1843E-06 None None None None N None 0 0 None 0 5.55031E-05 None 0 0 0 0 0
K/T 22410 Fn3-50 57 rs1559493839 0.5214 None 0.967 N 0.61 0.369 0.373897652646 gnomAD-4.0.0 1.59215E-06 None None None None N None 0 2.28707E-05 None 0 0 None 0 0 0 0 0
S/R 22505 Fn3-51 55 None 0.377 None 0.175 N 0.26 0.216 0.233785782151 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
K/E 22700 Fn3-52 58 rs1401253287 0.5453 0.174 0.999 N 0.572 0.385 0.290590437066 gnomAD-2.1.1 7.15E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.56E-05 0
K/E 22700 Fn3-52 58 rs1401253287 0.5453 0.174 0.999 N 0.572 0.385 0.290590437066 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
K/E 22700 Fn3-52 58 rs1401253287 0.5453 0.174 0.999 N 0.572 0.385 0.290590437066 gnomAD-4.0.0 4.33928E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93473E-06 0 0
M/R 22800 Fn3-53 58 None 0.2369 None 0.873 N 0.378 0.373 0.565865824572 gnomAD-4.0.0 1.3692E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79994E-06 0 0
M/T 22800 Fn3-53 58 rs751870146 0.2075 -0.048 0.285 N 0.333 0.304 0.636921891668 gnomAD-2.1.1 8.06E-06 None None None None I None 0 0 None 0 1.11707E-04 None 0 None 0 0 0
M/T 22800 Fn3-53 58 rs751870146 0.2075 -0.048 0.285 N 0.333 0.304 0.636921891668 gnomAD-3.1.2 1.32E-05 None None None None I None 0 0 0 0 3.86847E-04 None 0 0 0 0 0
M/T 22800 Fn3-53 58 rs751870146 0.2075 -0.048 0.285 N 0.333 0.304 0.636921891668 gnomAD-4.0.0 1.86008E-06 None None None None I None 0 0 None 0 4.46449E-05 None 0 0 8.48038E-07 0 0
E/K 22898 Fn3-54 58 rs1416793414 0.1771 None 0.024 N 0.315 0.133 0.181679512989 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
E/K 22898 Fn3-54 58 rs1416793414 0.1771 None 0.024 N 0.315 0.133 0.181679512989 gnomAD-4.0.0 6.57471E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 4.78011E-04
E/Q 22898 Fn3-54 58 rs1416793414 0.1482 -0.103 0.055 N 0.327 0.112 0.170165803431 gnomAD-2.1.1 3.19E-05 None None None None I None 0 1.18203E-03 None 0 0 None 0 None 0 0 0
E/Q 22898 Fn3-54 58 rs1416793414 0.1482 -0.103 0.055 N 0.327 0.112 0.170165803431 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/Q 22898 Fn3-54 58 rs1416793414 0.1482 -0.103 0.055 N 0.327 0.112 0.170165803431 gnomAD-4.0.0 6.57471E-06 None None None None I None 0 6.54793E-05 None 0 0 None 0 0 0 0 0
S/F 23096 Fn3-55 57 rs775422985 0.1583 -1.089 0.295 N 0.375 0.161 0.598985906569 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 3.34747E-04 None 0 None 0 0 0
S/F 23096 Fn3-55 57 rs775422985 0.1583 -1.089 0.295 N 0.375 0.161 0.598985906569 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.94024E-04 None 0 0 0 0 0
S/F 23096 Fn3-55 57 rs775422985 0.1583 -1.089 0.295 N 0.375 0.161 0.598985906569 gnomAD-4.0.0 1.61145E-05 None None None None N None 0 0 None 0 5.80202E-04 None 0 0 0 0 0
S/P 23096 Fn3-55 57 None 0.4471 None None N 0.205 0.17 0.0401082797425 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
D/E 23196 Fn3-56 58 None 0.3908 None 0.979 N 0.456 0.175 0.170165803431 gnomAD-4.0.0 1.59161E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85922E-06 0 0
D/N 23196 Fn3-56 58 rs1162141375 0.3513 -0.243 0.999 N 0.665 0.29 0.219573609325 gnomAD-2.1.1 8.04E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 8.89E-06 0
D/N 23196 Fn3-56 58 rs1162141375 0.3513 -0.243 0.999 N 0.665 0.29 0.219573609325 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/N 23196 Fn3-56 58 rs1162141375 0.3513 -0.243 0.999 N 0.665 0.29 0.219573609325 gnomAD-4.0.0 6.81733E-06 None None None None N None 1.33351E-05 3.33378E-05 None 0 0 None 0 0 4.23865E-06 2.19631E-05 1.60092E-05
G/R 23587 Fn3-59 56 None 0.4328 None 0.055 N 0.365 0.137 0.317084106153 gnomAD-4.0.0 2.7372E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59816E-06 0 0
R/C 23783 Fn3-60 58 rs754516257 0.7628 -0.353 1.0 N 0.747 0.457 None gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 8.98E-06 0
R/C 23783 Fn3-60 58 rs754516257 0.7628 -0.353 1.0 N 0.747 0.457 None gnomAD-4.0.0 4.10991E-06 None None None None N None 2.98972E-05 0 None 0 2.52781E-05 None 0 0 2.70074E-06 1.16214E-05 0
R/H 23783 Fn3-60 58 rs145504744 0.5622 -0.872 1.0 N 0.765 0.402 None gnomAD-2.1.1 4.32E-05 None None None None N None 0 0 None 0 0 None 3.63156E-04 None 0 7.89E-06 0
R/H 23783 Fn3-60 58 rs145504744 0.5622 -0.872 1.0 N 0.765 0.402 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
R/H 23783 Fn3-60 58 rs145504744 0.5622 -0.872 1.0 N 0.765 0.402 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
R/H 23783 Fn3-60 58 rs145504744 0.5622 -0.872 1.0 N 0.765 0.402 None gnomAD-4.0.0 3.28931E-05 None None None None N None 1.33376E-05 0 None 0 0 None 0 0 1.35796E-05 3.85556E-04 1.6039E-05
R/P 23783 Fn3-60 58 rs145504744 0.9904 None 1.0 N 0.697 0.501 0.514587094315 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
R/P 23783 Fn3-60 58 rs145504744 0.9904 None 1.0 N 0.697 0.501 0.514587094315 gnomAD-4.0.0 6.57635E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47076E-05 0 0
G/S 23883 Fn3-61 58 None 0.1332 None 0.997 N 0.675 0.453 0.267755039894 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
E/D 23981 Fn3-62 58 rs1559434457 0.1232 None 0.999 N 0.445 0.191 0.222439326576 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.93E-06 0
E/D 23981 Fn3-62 58 rs1559434457 0.1232 None 0.999 N 0.445 0.191 0.222439326576 gnomAD-4.0.0 1.59188E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85923E-06 0 0
E/Q 23981 Fn3-62 58 rs794729246 0.2039 None 1.0 N 0.598 0.24 0.290590437066 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/Q 23981 Fn3-62 58 rs794729246 0.2039 None 1.0 N 0.598 0.24 0.290590437066 gnomAD-4.0.0 6.57436E-06 None None None None I None 0 6.55394E-05 None 0 0 None 0 0 0 0 0
V/I 24179 Fn3-63 58 rs1400549364 0.0943 -0.338 None N 0.117 0.057 0.12205267543 gnomAD-2.1.1 1E-05 None None None None I None 0 0 None 0 0 None 0 None 0 2.01E-05 0
V/I 24179 Fn3-63 58 rs1400549364 0.0943 -0.338 None N 0.117 0.057 0.12205267543 gnomAD-3.1.2 1.32E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
V/I 24179 Fn3-63 58 rs1400549364 0.0943 -0.338 None N 0.117 0.057 0.12205267543 gnomAD-4.0.0 6.67919E-06 None None None None I None 1.40252E-05 0 None 0 0 None 0 0 5.32982E-06 0 5.22612E-05
D/E 24279 Fn3-64 58 None 0.3565 None 1.0 N 0.411 0.288 0.156986980423 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
D/G 24279 Fn3-64 58 rs974475286 0.4832 -0.168 1.0 N 0.725 0.483 0.331365685468 gnomAD-2.1.1 8.84E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.9E-05 0
D/G 24279 Fn3-64 58 rs974475286 0.4832 -0.168 1.0 N 0.725 0.483 0.331365685468 gnomAD-4.0.0 5.00913E-06 None None None None N None 0 0 None 0 0 None 0 0 8.95255E-06 0 0
D/H 24279 Fn3-64 58 None 0.7324 None 1.0 N 0.663 0.431 0.365892764245 gnomAD-4.0.0 3.34E-06 None None None None N None 0 0 None 0 0 None 0 0 2.98408E-06 1.5466E-05 0
A/S 24381 Fn3-65 59 rs762504227 0.0897 -0.664 1.0 N 0.536 0.23 0.26547132957 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
A/S 24381 Fn3-65 59 rs762504227 0.0897 -0.664 1.0 N 0.536 0.23 0.26547132957 gnomAD-4.0.0 1.59288E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43369E-05 0
K/R 24575 Fn3-66 57 rs766059820 0.1046 -0.017 0.997 N 0.546 0.267 0.380901646489 gnomAD-2.1.1 8.05E-06 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 0
K/R 24575 Fn3-66 57 rs766059820 0.1046 -0.017 0.997 N 0.546 0.267 0.380901646489 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
K/R 24575 Fn3-66 57 rs766059820 0.1046 -0.017 0.997 N 0.546 0.267 0.380901646489 gnomAD-4.0.0 3.84676E-06 None None None None N None 0 5.08733E-05 None 0 0 None 0 0 0 0 0
V/A 24671 Fn3-67 56 None 0.1219 None 0.25 N 0.231 0.132 0.418344901717 gnomAD-4.0.0 1.59257E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86007E-06 0 0
V/I 24671 Fn3-67 56 rs1708427922 0.0826 None 0.001 N 0.131 0.112 0.391313282164 gnomAD-3.1.2 6.58E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
V/I 24671 Fn3-67 56 rs1708427922 0.0826 None 0.001 N 0.131 0.112 0.391313282164 gnomAD-4.0.0 9.9187E-06 None None None None I None 0 1.66778E-05 None 0 0 None 0 0 1.27167E-05 0 0
R/K 24865 Fn3-68 58 None 0.5725 None 0.773 N 0.481 0.238 0.230578612272 gnomAD-4.0.0 1.59248E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85959E-06 0 0
R/S 24865 Fn3-68 58 rs1261180608 0.9768 None 0.099 N 0.343 0.198 0.154104182512 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.94099E-04 None 0 0 0 0 0
R/S 24865 Fn3-68 58 rs1261180608 0.9768 None 0.099 N 0.343 0.198 0.154104182512 gnomAD-4.0.0 2.56425E-06 None None None None N None 0 0 None 0 4.87116E-05 None 0 0 0 0 0
Q/H 24965 Fn3-69 58 rs201512527 0.1352 -0.263 None N 0.106 0.114 0.134241683229 gnomAD-2.1.1 9.93489E-04 None None None None N None 0 7.63747E-04 None 1.63538E-02 0 None 0 None 0 5.71259E-04 1.2644E-03
Q/H 24965 Fn3-69 58 rs201512527 0.1352 -0.263 None N 0.106 0.114 0.134241683229 gnomAD-3.1.2 8.15285E-04 None None None None N None 1.20662E-04 5.90396E-04 0 1.78777E-02 0 None 0 0 6.3226E-04 0 2.39006E-03
Q/H 24965 Fn3-69 58 rs201512527 0.1352 -0.263 None N 0.106 0.114 0.134241683229 1000 genomes 3.99361E-04 None None None None N None 0 1.4E-03 None None 0 1E-03 None None None 0 None
Q/H 24965 Fn3-69 58 rs201512527 0.1352 -0.263 None N 0.106 0.114 0.134241683229 gnomAD-4.0.0 9.06086E-04 None None None None N None 1.06661E-04 7.83647E-04 None 1.67624E-02 0 None 0 0 6.76479E-04 0 1.80898E-03
Q/R 24965 Fn3-69 58 None 0.1157 None 0.024 N 0.122 0.102 0.154104182512 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
D/H 25063 Fn3-70 58 rs1707970781 0.3511 None 0.602 N 0.329 0.259 0.190952846119 gnomAD-4.0.0 1.59169E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85928E-06 0 0
K/Q 25657 Fn3-74 57 None 0.2226 None 0.897 N 0.531 0.197 0.1749357433 gnomAD-4.0.0 1.59245E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86031E-06 0 0
K/T 25657 Fn3-74 57 None 0.4209 None 0.978 N 0.552 0.287 0.309530620856 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.21507E-04 0
S/A 25753 Fn3-75 56 None 0.0772 None None N 0.08 0.066 0.0954503805726 gnomAD-4.0.0 3.60098E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93752E-06 0 0
S/Y 25753 Fn3-75 56 rs1286606791 0.1968 -0.402 0.912 N 0.377 0.26 0.528009843598 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
S/Y 25753 Fn3-75 56 rs1286606791 0.1968 -0.402 0.912 N 0.377 0.26 0.528009843598 gnomAD-4.0.0 2.73806E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59846E-06 0 0
R/G 25947 Fn3-76 58 rs369737926 0.9283 -0.153 0.892 N 0.571 0.332 None 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
R/G 25947 Fn3-76 58 rs369737926 0.9283 -0.153 0.892 N 0.571 0.332 None gnomAD-4.0.0 3.60098E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93752E-06 0 0
R/S 25947 Fn3-76 58 rs1706725757 0.9803 None 0.892 N 0.657 0.3 0.321951552304 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
R/S 25947 Fn3-76 58 rs1706725757 0.9803 None 0.892 N 0.657 0.3 0.321951552304 gnomAD-4.0.0 3.09903E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23858E-06 0 0
D/H 26047 Fn3-77 58 rs1315662301 0.335 None 0.942 D 0.652 0.279 0.285698343383 gnomAD-4.0.0 6.84331E-07 None None None None I None 0 2.23704E-05 None 0 0 None 0 0 0 0 0
D/N 26047 Fn3-77 58 rs1315662301 0.1008 -0.191 0.942 N 0.545 0.256 0.233785782151 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
D/N 26047 Fn3-77 58 rs1315662301 0.1008 -0.191 0.942 N 0.545 0.256 0.233785782151 gnomAD-4.0.0 2.73732E-06 None None None None I None 0 0 None 0 0 None 0 0 0 4.63811E-05 0
E/K 26145 Fn3-78 58 rs1405668603 0.4644 0.413 0.939 N 0.487 0.32 0.303781844768 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.95E-06 0
T/I 26343 Fn3-79 58 rs765936549 0.2031 0.131 0.934 N 0.42 0.444 0.419090007872 gnomAD-2.1.1 7.15E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
T/I 26343 Fn3-79 58 rs765936549 0.2031 0.131 0.934 N 0.42 0.444 0.419090007872 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
T/I 26343 Fn3-79 58 rs765936549 0.2031 0.131 0.934 N 0.42 0.444 0.419090007872 gnomAD-4.0.0 4.21473E-05 None None None None N None 0 1.66772E-05 None 0 0 None 0 0 5.67985E-05 0 0
V/A 26835 Fn3-83 56 rs1705503390 0.1082 None 0.009 N 0.102 0.125 0.394685799254 gnomAD-4.0.0 1.59161E-06 None None None None I None 0 0 None 0 2.77331E-05 None 0 0 0 0 0
D/E 27129 Fn3-85 58 None 0.1326 None 0.767 N 0.275 0.091 0.146414634003 gnomAD-4.0.0 6.84659E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99798E-07 0 0
D/H 27129 Fn3-85 58 rs778910088 0.3614 0.521 1.0 N 0.731 0.345 0.313518423057 gnomAD-2.1.1 8.12E-06 None None None None N None 0 5.85E-05 None 0 0 None 0 None 0 0 0
D/H 27129 Fn3-85 58 rs778910088 0.3614 0.521 1.0 N 0.731 0.345 0.313518423057 gnomAD-4.0.0 3.18747E-06 None None None None N None 0 4.5861E-05 None 0 0 None 0 0 0 0 0
A/D 27426 Fn3-87 58 rs774473418 0.3708 -1.459 0.967 N 0.675 0.47 0.555788435936 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
A/G 27426 Fn3-87 58 None 0.1317 None 0.805 N 0.401 0.351 0.388174495139 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
A/G 27426 Fn3-87 58 None 0.1317 None 0.805 N 0.401 0.351 0.388174495139 gnomAD-4.0.0 6.57471E-06 None None None None N None 0 6.55738E-05 None 0 0 None 0 0 0 0 0
A/V 27426 Fn3-87 58 rs774473418 0.1329 -0.02 0.892 N 0.453 0.324 0.44153150616 gnomAD-2.1.1 1.61E-05 None None None None N None 0 2.9E-05 None 0 0 None 0 None 9.28E-05 8.89E-06 0
A/V 27426 Fn3-87 58 rs774473418 0.1329 -0.02 0.892 N 0.453 0.324 0.44153150616 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 9.41E-05 0 0 0 0
A/V 27426 Fn3-87 58 rs774473418 0.1329 -0.02 0.892 N 0.453 0.324 0.44153150616 gnomAD-4.0.0 1.40937E-05 None None None None N None 0 5.08595E-05 None 0 0 None 1.09811E-04 0 2.3932E-06 0 0
G/R 27628 Fn3-89 59 rs773909467 0.3357 -0.312 0.984 N 0.689 0.281 0.456089687795 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
K/E 27822 Fn3-90 57 rs1269206431 0.5103 0.221 0.948 N 0.43 0.239 0.259272394797 gnomAD-2.1.1 4.3E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.27E-06 0
T/S 27918 Fn3-91 56 None 0.0857 None 0.309 N 0.309 0.106 0.168933306366 gnomAD-4.0.0 1.59739E-06 None None None None N None 0 0 None 0 0 None 0 0 2.865E-06 0 0
R/K 28111 Fn3-92 57 rs1060500463 0.3358 None 0.773 N 0.517 0.2 0.335910606209 gnomAD-4.0.0 3.1835E-06 None None None None N None 5.65675E-05 0 None 0 0 None 0 0 0 0 3.02499E-05
D/G 28211 Fn3-93 58 rs1168835158 0.1586 -0.424 0.338 N 0.417 0.217 0.185906805712 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
D/G 28211 Fn3-93 58 rs1168835158 0.1586 -0.424 0.338 N 0.417 0.217 0.185906805712 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
D/G 28211 Fn3-93 58 rs1168835158 0.1586 -0.424 0.338 N 0.417 0.217 0.185906805712 gnomAD-4.0.0 3.71838E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54293E-06 0 4.80323E-05
D/N 28211 Fn3-93 58 rs777440731 0.1064 -0.146 0.003 N 0.169 0.166 0.137902524267 gnomAD-2.1.1 1.07E-05 None None None None I None 0 0 None 0 1.54289E-04 None 0 None 0 0 0
D/N 28211 Fn3-93 58 rs777440731 0.1064 -0.146 0.003 N 0.169 0.166 0.137902524267 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.93349E-04 None 0 0 0 0 0
D/N 28211 Fn3-93 58 rs777440731 0.1064 -0.146 0.003 N 0.169 0.166 0.137902524267 gnomAD-4.0.0 6.57237E-06 None None None None I None 0 0 None 0 1.93349E-04 None 0 0 0 0 0
E/K 28309 Fn3-94 58 rs1383001734 0.321 0.134 0.994 N 0.431 0.371 0.340510301474 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
M/I 28507 Fn3-95 58 None 0.1685 None 0.001 N 0.165 0.031 0.0954503805726 gnomAD-4.0.0 6.84347E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99488E-07 0 0
M/V 28507 Fn3-95 58 rs750081245 0.0771 0.035 None N 0.062 0.091 0.239305524855 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.36E-05 0
M/V 28507 Fn3-95 58 rs750081245 0.0771 0.035 None N 0.062 0.091 0.239305524855 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
M/V 28507 Fn3-95 58 rs750081245 0.0771 0.035 None N 0.062 0.091 0.239305524855 gnomAD-4.0.0 5.12587E-06 None None None None N None 0 0 None 0 0 None 1.57178E-05 0 7.17899E-06 0 0
D/E 28607 Fn3-96 58 None 0.542 None 1.0 N 0.411 0.211 0.185906805712 gnomAD-4.0.0 1.5913E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85829E-06 0 0
D/H 28607 Fn3-96 58 rs879085011 0.7553 None 1.0 N 0.675 0.472 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
D/H 28607 Fn3-96 58 rs879085011 0.7553 None 1.0 N 0.675 0.472 None gnomAD-4.0.0 6.57333E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
G/E 28707 Fn3-97 57 rs754207859 0.2673 -0.463 0.684 N 0.338 0.239 None gnomAD-2.1.1 2.83E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.38E-05 1.66445E-04
G/E 28707 Fn3-97 57 rs754207859 0.2673 -0.463 0.684 N 0.338 0.239 None 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/E 28707 Fn3-97 57 rs754207859 0.2673 -0.463 0.684 N 0.338 0.239 None gnomAD-4.0.0 4.89609E-05 None None None None N None 0 0 None 0 0 None 0 0 6.61129E-05 0 1.60118E-05
R/C 28901 Fn3-98 57 rs757848764 0.1779 -0.06 1.0 N 0.73 0.335 0.613652031552 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 1.78E-05 0
R/C 28901 Fn3-98 57 rs757848764 0.1779 -0.06 1.0 N 0.73 0.335 0.613652031552 gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 4.78011E-04
R/C 28901 Fn3-98 57 rs757848764 0.1779 -0.06 1.0 N 0.73 0.335 0.613652031552 gnomAD-4.0.0 1.23951E-05 None None None None N None 4.0063E-05 1.66728E-05 None 0 8.91424E-05 None 0 0 6.78129E-06 1.09832E-05 4.80354E-05
R/G 28901 Fn3-98 57 rs757848764 0.2857 None 1.0 N 0.611 0.275 0.543299242062 gnomAD-4.0.0 6.84262E-07 None None None None N None 0 2.23614E-05 None 0 0 None 0 0 0 0 0
R/H 28901 Fn3-98 57 rs550229338 0.1029 -0.746 1.0 N 0.76 0.331 0.254761474806 gnomAD-2.1.1 5.23E-05 None None None None N None 0 2.9E-05 None 0 6.13908E-04 None 3.27E-05 None 0 0 0
R/H 28901 Fn3-98 57 rs550229338 0.1029 -0.746 1.0 N 0.76 0.331 0.254761474806 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 5.78258E-04 None 0 0 0 0 0
R/H 28901 Fn3-98 57 rs550229338 0.1029 -0.746 1.0 N 0.76 0.331 0.254761474806 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
R/H 28901 Fn3-98 57 rs550229338 0.1029 -0.746 1.0 N 0.76 0.331 0.254761474806 gnomAD-4.0.0 1.36333E-05 None None None None N None 0 1.66656E-05 None 3.37883E-05 2.8979E-04 None 0 0 3.39066E-06 1.09827E-05 3.20133E-05
S/L 28997 Fn3-99 56 rs751293680 0.0836 0.172 0.027 N 0.335 0.158 0.480123561213 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
S/L 28997 Fn3-99 56 rs751293680 0.0836 0.172 0.027 N 0.335 0.158 0.480123561213 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/L 28997 Fn3-99 56 rs751293680 0.0836 0.172 0.027 N 0.335 0.158 0.480123561213 gnomAD-4.0.0 3.84326E-06 None None None None N None 1.6913E-05 0 None 0 0 None 0 0 4.78563E-06 0 0
R/G 29194 Fn3-100 58 None 0.7579 None 1.0 N 0.609 0.408 0.558264529485 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/S 29194 Fn3-100 58 rs754456800 0.9318 0.114 1.0 N 0.689 0.358 0.310147130316 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/S 29194 Fn3-100 58 rs754456800 0.9318 0.114 1.0 N 0.689 0.358 0.310147130316 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
R/T 29194 Fn3-100 58 None 0.9028 None 1.0 N 0.679 0.427 0.433491693731 gnomAD-4.0.0 3.18207E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71566E-06 0 0
T/I 29294 Fn3-101 58 None 0.4969 None 0.988 N 0.417 0.344 0.510172456258 gnomAD-4.0.0 6.84156E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99418E-07 0 0
T/K 29294 Fn3-101 58 None 0.3429 None 0.92 N 0.41 0.337 0.442261297928 gnomAD-4.0.0 6.84156E-07 None None None None I None 0 0 None 3.82673E-05 0 None 0 0 0 0 0
E/K 29392 Fn3-102 58 rs1553551691 0.2127 None 0.978 N 0.533 0.351 0.338834610459 gnomAD-4.0.0 3.18261E-06 None None None None I None 5.65291E-05 0 None 0 0 None 0 0 2.85799E-06 0 0
E/D 29590 Fn3-103 58 rs879152203 0.0785 -0.316 0.002 N 0.125 0.069 0.154104182512 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
E/D 29590 Fn3-103 58 rs879152203 0.0785 -0.316 0.002 N 0.125 0.069 0.154104182512 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
E/D 29590 Fn3-103 58 rs879152203 0.0785 -0.316 0.002 N 0.125 0.069 0.154104182512 gnomAD-4.0.0 1.05347E-05 None None None None N None 0 0 None 0 0 None 0 0 1.44086E-05 0 0
E/Q 29590 Fn3-103 58 rs72648236 0.1587 -0.202 0.891 N 0.401 0.256 0.284150004643 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
E/Q 29590 Fn3-103 58 rs72648236 0.1587 -0.202 0.891 N 0.401 0.256 0.284150004643 Begay (2015) None DCM comp het with R14640C None None N WGS prioritisation; filtering with ANNOVAR; co-segregates within 2-generation family (n = 2, 2 affected (total 3)) None None None None None None None None None None None
E/Q 29590 Fn3-103 58 rs72648236 0.1587 -0.202 0.891 N 0.401 0.256 0.284150004643 gnomAD-4.0.0 1.59104E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85778E-06 0 0
D/N 29690 Fn3-104 58 rs1209113873 0.5704 -0.281 1.0 N 0.657 0.337 0.268660756437 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
D/N 29690 Fn3-104 58 rs1209113873 0.5704 -0.281 1.0 N 0.657 0.337 0.268660756437 gnomAD-4.0.0 1.36843E-06 None None None None N None 0 0 None 0 5.03854E-05 None 0 0 0 0 0
T/I 29792 Fn3-105 59 rs876658091 0.3599 0.096 0.999 N 0.723 0.381 0.421799068777 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.56E-05 1.40489E-04
T/I 29792 Fn3-105 59 rs876658091 0.3599 0.096 0.999 N 0.723 0.381 0.421799068777 gnomAD-3.1.2 3.29E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 5.88E-05 0 0
T/I 29792 Fn3-105 59 rs876658091 0.3599 0.096 0.999 N 0.723 0.381 0.421799068777 gnomAD-4.0.0 3.34628E-05 None None None None N None 1.33472E-05 0 None 0 0 None 0 0 3.98364E-05 0 9.60615E-05
S/G 29989 Fn3-106 57 rs1225946550 0.079 None None N 0.071 0.074 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
S/G 29989 Fn3-106 57 rs1225946550 0.079 None None N 0.071 0.074 None gnomAD-4.0.0 7.43666E-06 None None None None N None 0 0 None 0 0 None 0 0 9.32336E-06 0 1.60092E-05
S/T 29989 Fn3-106 57 None 0.0715 None 0.012 N 0.247 0.051 0.124217242631 gnomAD-4.0.0 1.59153E-06 None None None None N None 0 0 None 0 0 None 1.88743E-05 0 0 0 0
G/A 30381 Fn3-109 58 rs1411459280 0.1001 0.099 0.008 N 0.273 0.078 0.144782658237 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
G/A 30381 Fn3-109 58 rs1411459280 0.1001 0.099 0.008 N 0.273 0.078 0.144782658237 gnomAD-4.0.0 6.36462E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14324E-05 0 0
G/E 30381 Fn3-109 58 None 0.2065 None 0.722 N 0.553 0.215 0.263612267334 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43283E-05 0
G/R 30381 Fn3-109 58 rs779339354 0.2278 -0.304 0.901 N 0.621 0.211 0.389439708392 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
G/R 30381 Fn3-109 58 rs779339354 0.2278 -0.304 0.901 N 0.621 0.211 0.389439708392 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 2.77285E-05 None 0 0 0 0 0
E/D 30478 Fn3-110 57 rs373900294 0.0865 -0.411 0.016 N 0.227 0.032 0.141422826196 gnomAD-2.1.1 2.51E-05 None None None None I None 2.48283E-04 0 None 0 0 None 0 None 0 0 1.41004E-04
E/D 30478 Fn3-110 57 rs373900294 0.0865 -0.411 0.016 N 0.227 0.032 0.141422826196 gnomAD-3.1.2 1.05168E-04 None None None None I None 2.65508E-04 2.6202E-04 0 0 0 None 0 0 0 0 4.77555E-04
E/D 30478 Fn3-110 57 rs373900294 0.0865 -0.411 0.016 N 0.227 0.032 0.141422826196 gnomAD-4.0.0 1.42561E-05 None None None None I None 2.27018E-04 8.33806E-05 None 0 0 None 0 0 0 0 1.60133E-05
E/V 30478 Fn3-110 57 rs794729531 0.2853 0.288 0.973 N 0.765 0.473 0.481246930725 gnomAD-2.1.1 2.02E-05 None None None None I None 0 1.45307E-04 None 0 0 None 0 None 0 0 0
E/V 30478 Fn3-110 57 rs794729531 0.2853 0.288 0.973 N 0.765 0.473 0.481246930725 gnomAD-3.1.2 1.31E-05 None None None None I None 0 1.31079E-04 0 0 0 None 0 0 0 0 0
E/V 30478 Fn3-110 57 rs794729531 0.2853 0.288 0.973 N 0.765 0.473 0.481246930725 gnomAD-4.0.0 1.02532E-05 None None None None I None 0 1.35653E-04 None 0 0 None 0 0 0 0 0
A/G 30676 Fn3-111 58 rs1237501659 0.1067 -0.755 0.014 N 0.214 0.123 0.149567049428 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
A/G 30676 Fn3-111 58 rs1237501659 0.1067 -0.755 0.014 N 0.214 0.123 0.149567049428 gnomAD-4.0.0 6.40595E-06 None None None None N None 0 0 None 0 0 None 0 0 9.57268E-06 1.3403E-05 0
A/T 30676 Fn3-111 58 None 0.0728 None 0.698 N 0.485 0.174 0.170165803431 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/A 30777 Fn3-112 59 None 0.5336 None 0.928 N 0.687 0.397 0.338834610459 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
E/K 30777 Fn3-112 59 None 0.6616 None 0.928 N 0.559 0.306 0.306695030598 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/I 30878 Fn3-113 58 rs1279509755 0.3484 0.654 0.642 N 0.422 0.242 0.386882687439 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.65618E-04
R/C 31072 Fn3-114 57 rs368932767 0.4655 0.019 1.0 N 0.639 0.422 None gnomAD-2.1.1 5.37E-05 None None None None N None 4.14E-05 0 None 0 5.12E-05 None 0 None 7.99E-05 8.63E-05 0
R/C 31072 Fn3-114 57 rs368932767 0.4655 0.019 1.0 N 0.639 0.422 None gnomAD-3.1.2 1.05184E-04 None None None None N None 7.24E-05 6.55E-05 0 0 0 None 9.42E-05 0 1.61727E-04 0 0
R/C 31072 Fn3-114 57 rs368932767 0.4655 0.019 1.0 N 0.639 0.422 None gnomAD-4.0.0 1.14644E-04 None None None None N None 5.34017E-05 1.66711E-05 None 0 1.55971E-04 None 3.12529E-05 0 1.33921E-04 1.09796E-05 1.92111E-04
R/G 31072 Fn3-114 57 rs368932767 0.6424 -0.154 0.998 N 0.475 0.413 0.451882325854 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/G 31072 Fn3-114 57 rs368932767 0.6424 -0.154 0.998 N 0.475 0.413 0.451882325854 gnomAD-4.0.0 2.05257E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.47802E-05 0
R/H 31072 Fn3-114 57 rs141817409 0.2595 -0.69 0.783 N 0.297 0.265 None gnomAD-2.1.1 1.14448E-04 None None None None N None 9.51199E-04 1.97997E-04 None 0 0 None 0 None 4E-05 7.84E-06 0
R/H 31072 Fn3-114 57 rs141817409 0.2595 -0.69 0.783 N 0.297 0.265 None gnomAD-3.1.2 2.8928E-04 None None None None N None 9.41256E-04 6.55E-05 0 0 1.93125E-04 None 9.43E-05 0 2.94E-05 0 0
R/H 31072 Fn3-114 57 rs141817409 0.2595 -0.69 0.783 N 0.297 0.265 None 1000 genomes 7.98722E-04 None None None None N None 3E-03 0 None None 0 0 None None None 0 None
R/H 31072 Fn3-114 57 rs141817409 0.2595 -0.69 0.783 N 0.297 0.265 None gnomAD-4.0.0 7.74568E-05 None None None None N None 1.07957E-03 1.83284E-04 None 0 6.68688E-05 None 1.56299E-05 0 2.11902E-05 0 6.40184E-05
Q/H 31168 Fn3-115 56 None 0.1412 None 0.912 N 0.305 0.124 0.214338557667 gnomAD-4.0.0 1.59108E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
R/C 31365 Fn3-116 58 rs372593328 0.3113 -0.178 1.0 N 0.732 0.394 None gnomAD-2.1.1 2.15E-05 None None None None N None 1.65426E-04 0 None 0 0 None 0 None 0 1.57E-05 0
R/C 31365 Fn3-116 58 rs372593328 0.3113 -0.178 1.0 N 0.732 0.394 None gnomAD-3.1.2 3.29E-05 None None None None N None 9.66E-05 0 0 0 0 None 0 0 0 0 4.78011E-04
R/C 31365 Fn3-116 58 rs372593328 0.3113 -0.178 1.0 N 0.732 0.394 None gnomAD-4.0.0 1.23949E-05 None None None None N None 8.01239E-05 1.6675E-05 None 0 2.23075E-05 None 0 0 8.47626E-06 0 3.20256E-05
R/H 31365 Fn3-116 58 rs577262832 0.166 -0.69 1.0 N 0.778 0.346 0.377451072189 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 1.78E-05 1.66223E-04
R/H 31365 Fn3-116 58 rs577262832 0.166 -0.69 1.0 N 0.778 0.346 0.377451072189 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
R/H 31365 Fn3-116 58 rs577262832 0.166 -0.69 1.0 N 0.778 0.346 0.377451072189 gnomAD-4.0.0 3.40871E-05 None None None None N None 1.33558E-05 0 None 0 4.4615E-05 None 0 3.28839E-04 3.89905E-05 3.29417E-05 1.60138E-05
R/L 31365 Fn3-116 58 rs577262832 0.6048 0.618 1.0 N 0.594 0.361 0.391470661076 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
R/L 31365 Fn3-116 58 rs577262832 0.6048 0.618 1.0 N 0.594 0.361 0.391470661076 gnomAD-4.0.0 1.36852E-06 None None None None N None 0 2.23674E-05 None 0 0 None 0 0 8.99473E-07 0 0
E/K 31465 Fn3-117 58 rs752194452 0.248 0.288 0.977 N 0.598 0.386 0.286848849266 gnomAD-2.1.1 1.07E-05 None None None None I None 0 0 None 0 0 None 0 None 0 2.34E-05 0
E/K 31465 Fn3-117 58 rs752194452 0.248 0.288 0.977 N 0.598 0.386 0.286848849266 gnomAD-3.1.2 3.94E-05 None None None None I None 0 0 0 0 0 None 0 0 8.82E-05 0 0
E/K 31465 Fn3-117 58 rs752194452 0.248 0.288 0.977 N 0.598 0.386 0.286848849266 gnomAD-4.0.0 5.57718E-06 None None None None I None 0 0 None 0 0 None 0 0 5.9333E-06 2.19563E-05 0
E/Q 31465 Fn3-117 58 None 0.1485 None 0.997 N 0.637 0.299 0.218112801441 gnomAD-4.0.0 2.05261E-06 None None None None I None 0 0 None 0 2.51902E-05 None 1.87259E-05 0 8.99476E-07 0 0
D/E 31566 Fn3-118 61 rs72648253 0.1162 -0.069 None N 0.091 0.117 0.104622674875 gnomAD-2.1.1 3.62E-05 None None None None I None 0 2.31924E-04 None 0 0 None 0 None 0 0 1.65782E-04
D/E 31566 Fn3-118 61 rs72648253 0.1162 -0.069 None N 0.091 0.117 0.104622674875 gnomAD-4.0.0 1.27301E-05 None None None None I None 0 1.82916E-04 None 0 0 None 0 0 0 0 0
D/H 31566 Fn3-118 61 rs1697332587 0.5654 None 0.773 D 0.467 0.402 0.263612267334 gnomAD-4.0.0 2.73684E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69845E-06 0 1.65662E-05
D/N 31566 Fn3-118 61 None 0.1614 None 0.324 N 0.437 0.258 0.178374595973 gnomAD-4.0.0 1.36842E-06 None None None None I None 0 0 None 0 0 None 0 0 8.99484E-07 0 1.65662E-05
T/N 31764 Fn3-119 57 rs1357116939 0.1058 None 0.997 N 0.497 0.361 0.370789594751 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
T/S 31764 Fn3-119 57 rs1175551497 0.0846 -0.764 0.775 N 0.273 0.18 0.158396225186 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
T/S 31764 Fn3-119 57 rs1175551497 0.0846 -0.764 0.775 N 0.273 0.18 0.158396225186 gnomAD-4.0.0 1.36838E-06 None None None None N None 0 0 None 0 5.03931E-05 None 0 0 0 0 0
D/A 31865 Fn3-120 59 None 0.7246 None 1.0 N 0.753 0.487 0.499473279415 gnomAD-4.0.0 1.59155E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43283E-05 0
D/E 31865 Fn3-120 59 rs745843064 0.4963 -0.148 1.0 N 0.41 0.25 0.197625483188 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
D/H 31865 Fn3-120 59 rs1696661402 0.8546 None 1.0 N 0.732 0.475 0.35139820857 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07383E-04 0
D/H 31865 Fn3-120 59 rs1696661402 0.8546 None 1.0 N 0.732 0.475 0.35139820857 gnomAD-4.0.0 3.84385E-06 None None None None N None 0 0 None 0 0 None 0 0 2.3936E-06 2.68046E-05 0
K/T 32161 Fn3-122 57 None 0.685 None 1.0 N 0.653 0.466 0.369682402691 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
R/G 32456 Fn3-124 58 None 0.6508 None 1.0 N 0.645 0.286 0.470484629704 gnomAD-4.0.0 7.52681E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89463E-06 0 0
R/K 32456 Fn3-124 58 rs879169496 0.3012 None 0.997 N 0.523 0.346 None gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
R/S 32456 Fn3-124 58 rs771232040 0.8507 -0.118 1.0 N 0.723 0.372 0.242825505644 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
R/S 32456 Fn3-124 58 rs771232040 0.8507 -0.118 1.0 N 0.723 0.372 0.242825505644 gnomAD-4.0.0 1.36852E-06 None None None None N None 2.98846E-05 0 None 0 0 None 0 0 0 1.15934E-05 0
M/I 32556 Fn3-125 58 None 0.7223 None 0.985 N 0.487 0.321 0.683392867763 gnomAD-4.0.0 1.20033E-06 None None None None I None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
M/T 32556 Fn3-125 58 rs1257976666 0.3555 -0.863 0.994 N 0.526 0.49 0.7584815763 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.29E-05 None 0 0 0
M/T 32556 Fn3-125 58 rs1257976666 0.3555 -0.863 0.994 N 0.526 0.49 0.7584815763 gnomAD-4.0.0 1.59281E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.4362E-05 0
I/M 32657 Fn3-126 58 rs761994900 0.1361 None 0.817 N 0.315 0.094 0.355034743287 gnomAD-4.0.0 2.73675E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59786E-06 0 0
I/N 32657 Fn3-126 58 None 0.5046 None 0.999 N 0.679 0.44 0.81315104837 gnomAD-4.0.0 1.59115E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85822E-06 0 0
G/S 32852 Fn3-127 58 None 0.1383 None 0.001 N 0.221 0.187 0.128392430309 gnomAD-4.0.0 1.59117E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85825E-06 0 0
G/V 32852 Fn3-127 58 rs1693340480 0.3582 None 0.627 N 0.482 0.306 0.628842659243 gnomAD-4.0.0 1.59121E-06 None None None None N None 0 0 None 0 2.77254E-05 None 0 0 0 0 0
T/I 32954 Fn3-128 59 rs372126622 0.7877 0.08 1.0 N 0.693 0.432 None gnomAD-2.1.1 4.02E-05 None None None None N None 1.93523E-04 1.15949E-04 None 0 0 None 3.27E-05 None 0 1.78E-05 0
T/I 32954 Fn3-128 59 rs372126622 0.7877 0.08 1.0 N 0.693 0.432 None gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 2.94E-05 0 0
T/I 32954 Fn3-128 59 rs372126622 0.7877 0.08 1.0 N 0.693 0.432 None gnomAD-4.0.0 4.02813E-05 None None None None N None 2.6703E-05 6.66933E-05 None 0 0 None 0 0 4.83153E-05 2.19578E-05 0
V/A 33348 Fn3-130 59 rs957996377 0.1451 None 0.139 N 0.128 0.172 0.417460480802 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/A 33348 Fn3-130 59 rs957996377 0.1451 None 0.139 N 0.128 0.172 0.417460480802 gnomAD-4.0.0 3.84645E-06 None None None None I None 0 0 None 0 0 None 0 0 7.1836E-06 0 0
V/M 33348 Fn3-130 59 rs757184326 0.2001 -0.311 0.975 N 0.354 0.221 0.457741393631 gnomAD-2.1.1 1.62E-05 None None None None I None 0 0 None 0 0 None 1.31527E-04 None 0 0 0
V/M 33348 Fn3-130 59 rs757184326 0.2001 -0.311 0.975 N 0.354 0.221 0.457741393631 gnomAD-4.0.0 9.58358E-06 None None None None I None 0 2.24165E-05 None 0 0 None 0 0 0 1.50949E-04 0
E/A 33449 Fn3-131 58 rs1218969890 0.373 -1.049 0.992 N 0.571 0.482 0.422524665647 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
E/A 33449 Fn3-131 58 rs1218969890 0.373 -1.049 0.992 N 0.571 0.482 0.422524665647 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
E/A 33449 Fn3-131 58 rs1218969890 0.373 -1.049 0.992 N 0.571 0.482 0.422524665647 gnomAD-4.0.0 3.71835E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23816E-06 0 1.60118E-05
E/Q 33449 Fn3-131 58 None 0.3129 None 0.916 N 0.363 0.105 0.229264304666 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

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.