Structural position:

  • Domain Type: Fn3
  • Aligned Position: 83
  • 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
E/G 15712 Fn3-1 56 None 0.1639 None 0.22 N 0.509 0.168 0.282575091529 gnomAD-4.0.0 2.73843E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59955E-06 0 0
E/K 15814 Fn3-2 57 rs769902441 0.1003 0.522 0.183 N 0.178 0.165 0.253726318573 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
E/K 15814 Fn3-2 57 rs769902441 0.1003 0.522 0.183 N 0.178 0.165 0.253726318573 gnomAD-4.0.0 3.18681E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72577E-06 0 0
P/L 15915 Fn3-3 57 None 0.2508 None 1.0 N 0.693 0.434 0.61503831477 gnomAD-4.0.0 6.99811E-07 None None None None I None 0 0 None 0 0 None 0 0 9.10016E-07 0 0
P/T 15915 Fn3-3 57 None 0.1431 None 1.0 N 0.727 0.366 0.353974658523 gnomAD-4.0.0 1.67857E-06 None None None None I None 0 0 None 0 0 None 0 0 2.96725E-06 0 0
T/S 16110 Fn3-4 56 None 0.0857 None 0.002 N 0.086 0.109 0.101711395817 gnomAD-4.0.0 1.59685E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86773E-06 0 0
A/T 16210 Fn3-5 56 rs751399759 0.0665 -0.807 0.024 N 0.204 0.067 0.0401082797425 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
A/T 16210 Fn3-5 56 rs751399759 0.0665 -0.807 0.024 N 0.204 0.067 0.0401082797425 gnomAD-4.0.0 1.59463E-06 None None None None N None 0 0 None 0 2.78396E-05 None 0 0 0 0 0
K/R 16406 Fn3-6 56 None 0.1057 None 0.999 N 0.587 0.284 0.413635276047 gnomAD-4.0.0 1.59385E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86184E-06 0 0
K/R 16506 Fn3-7 57 rs1206461113 0.1014 0.197 0.001 N 0.223 0.064 0.1749357433 gnomAD-2.1.1 7.15E-06 None None None None I None 4.14E-05 2.83E-05 None 0 0 None 0 None 0 0 0
K/R 16506 Fn3-7 57 rs1206461113 0.1014 0.197 0.001 N 0.223 0.064 0.1749357433 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
K/R 16506 Fn3-7 57 rs1206461113 0.1014 0.197 0.001 N 0.223 0.064 0.1749357433 gnomAD-4.0.0 2.56686E-06 None None None None I None 1.69451E-05 1.69589E-05 None 0 0 None 0 0 0 0 0
P/S 16606 Fn3-8 56 rs540303634 0.1335 -0.487 0.817 N 0.286 0.197 0.176091768786 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 3.39213E-04 None 0 None 0 0 0
P/S 16606 Fn3-8 56 rs540303634 0.1335 -0.487 0.817 N 0.286 0.197 0.176091768786 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 7.81555E-04 None 0 0 0 0 0
P/S 16606 Fn3-8 56 rs540303634 0.1335 -0.487 0.817 N 0.286 0.197 0.176091768786 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
P/S 16606 Fn3-8 56 rs540303634 0.1335 -0.487 0.817 N 0.286 0.197 0.176091768786 gnomAD-4.0.0 2.97672E-05 None None None None N None 0 0 None 0 1.0771E-03 None 0 0 0 0 0
K/E 16706 Fn3-9 56 None 0.6158 None 0.999 N 0.638 0.407 0.358540694251 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
K/R 16706 Fn3-9 56 rs879111780 0.1275 0.142 0.999 N 0.583 0.324 0.300784259202 gnomAD-2.1.1 7.18E-06 None None None None N None 0 2.84E-05 None 0 0 None 0 None 0 0 1.41243E-04
K/R 16706 Fn3-9 56 rs879111780 0.1275 0.142 0.999 N 0.583 0.324 0.300784259202 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
K/R 16706 Fn3-9 56 rs879111780 0.1275 0.142 0.999 N 0.583 0.324 0.300784259202 gnomAD-4.0.0 6.41578E-06 None None None None N None 0 3.39547E-05 None 0 0 None 0 0 7.18845E-06 0 0
N/D 17102 Fn3-12 56 rs1184311554 0.2244 0.496 0.026 N 0.212 0.12 0.201204373187 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
N/D 17102 Fn3-12 56 rs1184311554 0.2244 0.496 0.026 N 0.212 0.12 0.201204373187 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
N/D 17102 Fn3-12 56 rs1184311554 0.2244 0.496 0.026 N 0.212 0.12 0.201204373187 gnomAD-4.0.0 3.84719E-06 None None None None I None 0 0 None 0 0 None 0 0 7.18742E-06 0 0
N/K 17102 Fn3-12 56 rs1290588810 0.4977 0.385 0.103 N 0.299 0.092 0.0884992946249 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
N/K 17102 Fn3-12 56 rs1290588810 0.4977 0.385 0.103 N 0.299 0.092 0.0884992946249 gnomAD-4.0.0 2.73795E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59917E-06 0 0
P/S 17203 Fn3-13 57 rs1559763601 0.4894 None 1.0 N 0.747 0.419 0.347879110917 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
R/T 17426 Fn3-14 58 None 0.5522 None 0.967 N 0.605 0.336 0.32980341726 gnomAD-4.0.0 1.59378E-06 None None None None I None 0 0 None 0 0 None 0 0 2.862E-06 0 0
E/D 17818 Fn3-17 55 rs1055155891 0.1148 None 0.001 N 0.134 0.059 0.0297737177859 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/D 17818 Fn3-17 55 rs1055155891 0.1148 None 0.001 N 0.134 0.059 0.0297737177859 gnomAD-4.0.0 6.57964E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47184E-05 0 0
P/A 17918 Fn3-18 57 rs763660329 0.0683 -0.62 0.698 N 0.546 0.23 0.192905019026 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
P/A 17918 Fn3-18 57 rs763660329 0.0683 -0.62 0.698 N 0.546 0.23 0.192905019026 gnomAD-4.0.0 3.18832E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72928E-06 0 0
V/I 18122 Fn3-19 58 rs563319285 0.0806 -0.249 0.122 N 0.16 0.08 0.231231049324 gnomAD-2.1.1 3.64E-05 None None None None I None 0 0 None 0 0 None 2.97895E-04 None 0 0 0
V/I 18122 Fn3-19 58 rs563319285 0.0806 -0.249 0.122 N 0.16 0.08 0.231231049324 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
V/I 18122 Fn3-19 58 rs563319285 0.0806 -0.249 0.122 N 0.16 0.08 0.231231049324 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 0 None None None 1E-03 None
V/I 18122 Fn3-19 58 rs563319285 0.0806 -0.249 0.122 N 0.16 0.08 0.231231049324 gnomAD-4.0.0 1.86266E-05 None None None None I None 0 0 None 0 0 None 0 0 0 3.0918E-04 3.20924E-05
K/N 18227 Fn3-20 62 rs371332455 0.5135 -0.025 1.0 N 0.745 0.277 0.233785782151 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
K/N 18227 Fn3-20 62 rs371332455 0.5135 -0.025 1.0 N 0.745 0.277 0.233785782151 gnomAD-4.0.0 1.59306E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86239E-06 0 0
K/R 18840 Fn3-24 57 rs757205392 0.0845 -0.192 0.999 N 0.511 0.171 0.366277470483 gnomAD-2.1.1 4.29E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.31E-06 0
K/T 18840 Fn3-24 57 rs757205392 0.1417 -0.248 1.0 N 0.633 0.28 0.298056030225 gnomAD-2.1.1 4.29E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.31E-06 0
K/T 18840 Fn3-24 57 rs757205392 0.1417 -0.248 1.0 N 0.633 0.28 0.298056030225 gnomAD-4.0.0 1.63469E-06 None None None None N None 0 0 None 0 0 None 0 0 2.90335E-06 0 0
K/E 18940 Fn3-25 57 None 0.3331 None 0.722 N 0.603 0.132 0.186928172975 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/N 18940 Fn3-25 57 None 0.6316 None 0.722 N 0.597 0.135 0.112648838833 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
T/A 19239 Fn3-27 57 None 0.1572 None 0.999 N 0.475 0.318 0.266843984389 gnomAD-4.0.0 6.87783E-07 None None None None I None 0 0 None 0 0 None 0 0 9.02426E-07 0 0
T/I 19239 Fn3-27 57 rs2051363006 0.4533 None 1.0 N 0.638 0.46 0.510407551169 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07383E-04 0
T/I 19239 Fn3-27 57 rs2051363006 0.4533 None 1.0 N 0.638 0.46 0.510407551169 gnomAD-4.0.0 1.24546E-06 None None None None I None 0 0 None 0 0 None 0 0 8.50303E-07 1.11864E-05 0
L/H 19340 Fn3-28 57 rs777213118 0.2208 -0.369 0.976 N 0.662 0.43 0.817808388354 gnomAD-2.1.1 7.14E-06 None None None None N None 4.13E-05 0 None 0 0 None 0 None 0 7.81E-06 0
L/H 19340 Fn3-28 57 rs777213118 0.2208 -0.369 0.976 N 0.662 0.43 0.817808388354 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
L/H 19340 Fn3-28 57 rs777213118 0.2208 -0.369 0.976 N 0.662 0.43 0.817808388354 gnomAD-4.0.0 1.11575E-05 None None None None N None 1.33526E-05 0 None 0 0 None 0 0 1.44121E-05 0 0
P/R 19635 Fn3-30 57 None 0.344 None 1.0 N 0.811 0.41 0.459192005304 gnomAD-4.0.0 1.59202E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
P/L 19738 Fn3-31 59 rs879199918 0.1044 None 0.999 N 0.717 0.404 None gnomAD-4.0.0 4.77509E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57814E-06 0 0
K/T 19932 Fn3-32 56 None 0.5721 None 1.0 N 0.661 0.395 0.378322506985 gnomAD-4.0.0 1.36903E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.15958E-05 1.65766E-05
T/A 20031 Fn3-33 55 rs771797161 0.0683 -0.347 0.005 N 0.113 0.059 0.128392430309 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
T/A 20031 Fn3-33 55 rs771797161 0.0683 -0.347 0.005 N 0.113 0.059 0.128392430309 gnomAD-4.0.0 4.79044E-06 None None None None N None 2.99025E-05 2.23754E-05 None 0 0 None 0 0 2.69879E-06 0 3.31356E-05
T/K 20031 Fn3-33 55 rs1172877818 0.0833 -0.109 None N 0.097 0.084 0.130388298395 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
T/K 20031 Fn3-33 55 rs1172877818 0.0833 -0.109 None N 0.097 0.084 0.130388298395 gnomAD-4.0.0 1.59204E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85963E-06 0 0
S/G 20227 Fn3-34 57 None 0.081 None 0.201 N 0.266 0.095 0.192905019026 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
S/N 20227 Fn3-34 57 None 0.1248 None 0.004 N 0.097 0.066 0.166414681773 gnomAD-4.0.0 3.18394E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71938E-06 0 0
S/R 20227 Fn3-34 57 None 0.4536 None 0.81 N 0.367 0.196 0.213573922156 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
A/T 20326 Fn3-35 56 rs370995867 0.0661 -0.682 0.001 N 0.107 0.088 None gnomAD-2.1.1 1.21494E-04 None None None None I None 1.29349E-04 5.54324E-04 None 0 0 None 0 None 0 6.25E-05 3.35458E-04
A/T 20326 Fn3-35 56 rs370995867 0.0661 -0.682 0.001 N 0.107 0.088 None gnomAD-3.1.2 7.24E-05 None None None None I None 0 1.96747E-04 0 0 0 None 0 0 1.02996E-04 0 4.78011E-04
A/T 20326 Fn3-35 56 rs370995867 0.0661 -0.682 0.001 N 0.107 0.088 None gnomAD-4.0.0 5.90111E-05 None None None None I None 1.33676E-05 4.68274E-04 None 0 0 None 0 0 5.01153E-05 0 1.12352E-04
A/V 20326 Fn3-35 56 rs878985429 0.0834 -0.065 None N 0.107 0.13 None gnomAD-2.1.1 3.19E-05 None None None None I None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
A/V 20326 Fn3-35 56 rs878985429 0.0834 -0.065 None N 0.107 0.13 None gnomAD-3.1.2 1.32E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
A/V 20326 Fn3-35 56 rs878985429 0.0834 -0.065 None N 0.107 0.13 None gnomAD-4.0.0 3.8596E-06 None None None None I None 5.08113E-05 0 None 0 0 None 0 0 0 0 0
R/K 20428 Fn3-36 58 rs1158402913 0.1113 0.068 0.001 N 0.177 0.092 0.0806252709748 gnomAD-2.1.1 3.19E-05 None None None None I None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
R/K 20428 Fn3-36 58 rs1158402913 0.1113 0.068 0.001 N 0.177 0.092 0.0806252709748 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
R/K 20428 Fn3-36 58 rs1158402913 0.1113 0.068 0.001 N 0.177 0.092 0.0806252709748 gnomAD-4.0.0 2.03012E-06 None None None None I None 1.74752E-05 0 None 0 0 None 0 0 1.20498E-06 0 0
L/S 20919 Fn3-39 56 rs756059826 0.2727 -0.385 0.966 N 0.399 0.32 0.713529394019 gnomAD-2.1.1 8.1E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
L/S 20919 Fn3-39 56 rs756059826 0.2727 -0.385 0.966 N 0.399 0.32 0.713529394019 gnomAD-4.0.0 1.59424E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86107E-06 0 0
L/W 20919 Fn3-39 56 None 0.3791 None 0.028 N 0.359 0.176 0.670941187113 gnomAD-4.0.0 1.59424E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86107E-06 0 0
V/I 21126 Fn3-41 63 rs2049411703 0.0716 None None N 0.167 0.037 0.295623431141 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
V/I 21126 Fn3-41 63 rs2049411703 0.0716 None None N 0.167 0.037 0.295623431141 gnomAD-4.0.0 2.03014E-06 None None None None I None 1.74727E-05 0 None 0 0 None 0 0 1.20501E-06 0 0
K/N 21422 Fn3-43 57 rs758963173 0.7647 None 1.0 N 0.782 0.259 0.258779203287 gnomAD-4.0.0 4.10669E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39842E-06 0 0
K/R 21422 Fn3-43 57 None 0.1071 None 0.999 N 0.631 0.303 0.410071178582 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/I 21615 Fn3-44 57 None 0.4215 None 1.0 N 0.647 0.428 0.461934685604 gnomAD-4.0.0 3.60097E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 3.66327E-05
R/L 21715 Fn3-45 57 rs368450785 0.3669 0.31 0.996 N 0.493 0.386 None gnomAD-2.1.1 6.8E-05 None None None None N None 4.14E-05 2.83E-05 None 0 0 None 0 None 0 1.25374E-04 1.40528E-04
R/L 21715 Fn3-45 57 rs368450785 0.3669 0.31 0.996 N 0.493 0.386 None gnomAD-3.1.2 5.26E-05 None None None None N None 7.25E-05 6.56E-05 0 0 0 None 0 0 5.88E-05 0 0
R/L 21715 Fn3-45 57 rs368450785 0.3669 0.31 0.996 N 0.493 0.386 None gnomAD-4.0.0 8.05896E-05 None None None None N None 4.00844E-05 1.33458E-04 None 0 0 None 3.12471E-05 0 9.41074E-05 0 9.612E-05
R/Q 21715 Fn3-45 57 rs368450785 0.1648 -0.033 0.999 N 0.554 0.292 0.207176502487 gnomAD-2.1.1 4.83E-05 None None None None N None 0 0 None 0 0 None 1.9613E-04 None 0 3.57E-05 3.31785E-04
R/Q 21715 Fn3-45 57 rs368450785 0.1648 -0.033 0.999 N 0.554 0.292 0.207176502487 gnomAD-3.1.2 3.29E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 1.47E-05 6.22148E-04 0
R/Q 21715 Fn3-45 57 rs368450785 0.1648 -0.033 0.999 N 0.554 0.292 0.207176502487 gnomAD-4.0.0 4.02948E-05 None None None None N None 1.33615E-05 1.66822E-05 None 0 0 None 0 0 3.6456E-05 1.86715E-04 4.806E-05
R/W 21715 Fn3-45 57 rs766522121 0.3083 -0.413 1.0 N 0.678 0.425 0.398727352345 gnomAD-2.1.1 2.15E-05 None None None None N None 4.13E-05 0 None 9.69E-05 1.54623E-04 None 3.27E-05 None 0 0 0
R/W 21715 Fn3-45 57 rs766522121 0.3083 -0.413 1.0 N 0.678 0.425 0.398727352345 gnomAD-3.1.2 5.26E-05 None None None None N None 1.68968E-04 0 0 0 0 None 0 0 1.47E-05 0 0
R/W 21715 Fn3-45 57 rs766522121 0.3083 -0.413 1.0 N 0.678 0.425 0.398727352345 gnomAD-4.0.0 2.47961E-05 None None None None N None 1.46929E-04 0 None 3.37998E-05 1.11692E-04 None 0 0 1.3565E-05 4.393E-05 4.80538E-05
P/H 22011 Fn3-47 56 None 0.2768 None 0.002 N 0.229 0.259 0.24896430686 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
P/S 22011 Fn3-47 56 rs758402332 0.1499 -0.667 0.351 N 0.306 0.279 0.233150807113 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
P/S 22011 Fn3-47 56 rs758402332 0.1499 -0.667 0.351 N 0.306 0.279 0.233150807113 gnomAD-4.0.0 3.18631E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72246E-06 0 0
I/K 22111 Fn3-48 57 rs374614550 0.5284 -0.136 0.884 N 0.409 0.372 0.759901358487 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
I/K 22111 Fn3-48 57 rs374614550 0.5284 -0.136 0.884 N 0.409 0.372 0.759901358487 gnomAD-4.0.0 1.095E-05 None None None None I None 0 0 None 0 0 None 0 0 1.43948E-05 0 0
I/T 22111 Fn3-48 57 rs374614550 0.1034 -0.517 0.684 N 0.42 0.232 None gnomAD-4.0.0 4.10624E-06 None None None None I None 0 0 None 0 2.52054E-05 None 0 0 4.49839E-06 0 0
I/V 22111 Fn3-48 57 rs1453348748 0.0835 -0.212 0.164 N 0.323 0.079 0.469660041277 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
I/V 22111 Fn3-48 57 rs1453348748 0.0835 -0.212 0.164 N 0.323 0.079 0.469660041277 gnomAD-4.0.0 1.59211E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86031E-06 0 0
S/C 22409 Fn3-50 56 None 0.132 None None N 0.14 0.321 0.317084106153 gnomAD-4.0.0 1.5922E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
S/F 22409 Fn3-50 56 rs1296710770 0.2637 -0.812 0.56 N 0.302 0.272 0.520427616228 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
S/F 22409 Fn3-50 56 rs1296710770 0.2637 -0.812 0.56 N 0.302 0.272 0.520427616228 gnomAD-4.0.0 7.96102E-06 None None None None N None 0 0 None 1.90803E-04 0 None 0 0 0 0 3.027E-05
Q/H 22699 Fn3-52 57 rs727504520 0.4069 0.14 0.97 N 0.555 0.259 0.350524144436 gnomAD-2.1.1 5.72E-05 None None None None N None 0 2.83E-05 None 6.76852E-04 0 None 0 None 0 6.26E-05 0
Q/H 22699 Fn3-52 57 rs727504520 0.4069 0.14 0.97 N 0.555 0.259 0.350524144436 gnomAD-3.1.2 7.9E-05 None None None None N None 0 2.62329E-04 0 2.88184E-04 0 None 0 0 1.02974E-04 0 0
Q/H 22699 Fn3-52 57 rs727504520 0.4069 0.14 0.97 N 0.555 0.259 0.350524144436 gnomAD-4.0.0 1.41962E-04 None None None None N None 1.33608E-05 6.67267E-05 None 6.08273E-04 0 None 0 0 1.69565E-04 0 9.61076E-05
Q/P 22699 Fn3-52 57 None 0.1495 None 0.97 N 0.522 0.551 0.305410167561 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/M 22799 Fn3-53 57 rs760928333 0.3492 -0.036 1.0 N 0.745 0.331 0.469907520169 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
R/M 22799 Fn3-53 57 rs760928333 0.3492 -0.036 1.0 N 0.745 0.331 0.469907520169 gnomAD-4.0.0 6.84436E-06 None None None None I None 0 0 None 0 0 None 0 0 8.99706E-06 0 0
P/S 22897 Fn3-54 57 rs749642221 0.1089 -0.842 0.101 N 0.265 0.125 0.173771789658 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
P/S 22897 Fn3-54 57 rs749642221 0.1089 -0.842 0.101 N 0.265 0.125 0.173771789658 gnomAD-4.0.0 1.36876E-06 None None None None I None 2.989E-05 0 None 0 0 None 0 0 8.99607E-07 0 0
Q/H 23095 Fn3-55 56 None 0.1266 None 0.693 N 0.261 0.117 0.156986980423 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 1.01626E-03 None 0 0 None 0 0 0 0 0
R/G 23297 Fn3-57 58 rs779474257 0.4401 -0.244 0.822 N 0.467 0.291 0.355450299083 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.98E-06 0
R/G 23297 Fn3-57 58 rs779474257 0.4401 -0.244 0.822 N 0.467 0.291 0.355450299083 gnomAD-4.0.0 2.05418E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69949E-06 0 0
H/D 23490 Fn3-58 56 rs1397554911 0.2254 None 0.255 N 0.209 0.218 0.154104182512 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
H/D 23490 Fn3-58 56 rs1397554911 0.2254 None 0.255 N 0.209 0.218 0.154104182512 gnomAD-4.0.0 3.84475E-06 None None None None N None 1.69291E-05 0 None 0 0 None 0 0 2.39383E-06 0 2.84511E-05
I/T 23782 Fn3-60 57 rs1444831145 0.7651 -0.615 1.0 N 0.595 0.442 0.592827455569 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.97E-06 0
I/T 23782 Fn3-60 57 rs1444831145 0.7651 -0.615 1.0 N 0.595 0.442 0.592827455569 gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 0 None 0 0 2.94E-05 0 0
I/T 23782 Fn3-60 57 rs1444831145 0.7651 -0.615 1.0 N 0.595 0.442 0.592827455569 gnomAD-4.0.0 1.11651E-05 None None None None I None 0 0 None 0 0 None 0 0 1.44199E-05 0 1.60308E-05
I/V 23782 Fn3-60 57 rs2154171775 0.2517 None 0.993 N 0.311 0.242 0.512249151391 gnomAD-4.0.0 1.59504E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43662E-05 0
P/A 23882 Fn3-61 57 None 0.0595 None 0.001 N 0.143 0.13 0.152612264143 gnomAD-4.0.0 1.36852E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79913E-06 0 0
P/R 23882 Fn3-61 57 rs1709373981 0.1288 None 0.491 N 0.441 0.208 0.282179105231 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
P/R 23882 Fn3-61 57 rs1709373981 0.1288 None 0.491 N 0.441 0.208 0.282179105231 gnomAD-4.0.0 6.5754E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47072E-05 0 0
P/S 23882 Fn3-61 57 None 0.0799 None 0.005 N 0.161 0.125 0.141422826196 gnomAD-4.0.0 2.05279E-06 None None None None I None 0 0 None 0 0 None 0 0 2.6987E-06 0 0
Q/H 24178 Fn3-63 57 None 0.1774 None 0.979 N 0.396 0.208 0.219573609325 gnomAD-4.0.0 7.42763E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.80623E-05
T/I 24278 Fn3-64 57 None 0.2119 None 0.988 N 0.699 0.376 0.378674557249 gnomAD-4.0.0 6.99078E-07 None None None None N None 0 0 None 0 0 None 0 0 9.12241E-07 0 0
K/E 24380 Fn3-65 58 None 0.1929 0.407 0.801 N 0.467 0.15 0.18274738541 gnomAD-4.0.0 2.73793E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.63897E-05 0
H/L 24574 Fn3-66 56 rs754917150 0.0957 1.178 0.399 N 0.377 0.217 0.368369118721 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
A/G 24864 Fn3-68 57 None 0.6494 None 0.979 N 0.534 0.286 0.32980341726 gnomAD-4.0.0 1.5924E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.027E-05
A/T 24864 Fn3-68 57 rs1216441388 0.5647 -0.421 0.958 N 0.586 0.21 0.292787519742 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
A/T 24864 Fn3-68 57 rs1216441388 0.5647 -0.421 0.958 N 0.586 0.21 0.292787519742 gnomAD-4.0.0 1.59248E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85958E-06 0 0
P/L 24964 Fn3-69 57 rs72646899 0.0767 -0.212 0.698 N 0.521 0.252 None gnomAD-2.1.1 3.18071E-04 None None None None N None 3.39039E-03 1.6975E-04 None 0 0 None 0 None 0 0 1.40449E-04
P/L 24964 Fn3-69 57 rs72646899 0.0767 -0.212 0.698 N 0.521 0.252 None gnomAD-3.1.2 8.81254E-04 None None None None N None 3.13873E-03 1.96825E-04 0 0 0 None 0 0 0 0 4.78011E-04
P/L 24964 Fn3-69 57 rs72646899 0.0767 -0.212 0.698 N 0.521 0.252 None 1000 genomes 1.19808E-03 None None None None N None 4.5E-03 0 None None 0 0 None None None 0 None
P/L 24964 Fn3-69 57 rs72646899 0.0767 -0.212 0.698 N 0.521 0.252 None gnomAD-4.0.0 1.80976E-04 None None None None N None 3.52084E-03 2.16768E-04 None 0 0 None 0 1.65125E-04 8.47723E-07 0 2.08107E-04
I/S 25062 Fn3-70 57 None 0.2211 None 0.379 N 0.394 0.183 0.661538273795 gnomAD-4.0.0 6.84288E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99572E-07 0 0
I/T 25062 Fn3-70 57 rs1010492126 0.1023 -0.354 0.016 N 0.233 0.143 0.453214075403 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
I/T 25062 Fn3-70 57 rs1010492126 0.1023 -0.354 0.016 N 0.233 0.143 0.453214075403 gnomAD-4.0.0 2.05286E-06 None None None None I None 0 0 None 0 0 None 0 0 8.99572E-07 2.31879E-05 0
Q/H 25260 Fn3-71 57 rs1707726034 0.2184 None 0.99 N 0.564 0.312 0.214338557667 gnomAD-4.0.0 8.21322E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89547E-06 0 1.65728E-05
Q/R 25260 Fn3-71 57 None 0.1051 None 0.904 N 0.523 0.275 0.201204373187 gnomAD-4.0.0 1.36887E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79919E-06 0 0
G/E 25360 Fn3-72 57 rs1158176682 0.3424 None 0.521 N 0.425 0.121 0.250039746154 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
G/E 25360 Fn3-72 57 rs1158176682 0.3424 None 0.521 N 0.425 0.121 0.250039746154 gnomAD-4.0.0 6.57583E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47115E-05 0 0
G/R 25360 Fn3-72 57 None 0.3698 None 0.792 N 0.427 0.178 0.373537453441 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
H/R 25656 Fn3-74 56 rs755172663 0.1459 -0.098 0.571 N 0.261 0.195 None gnomAD-2.1.1 1.79E-05 None None None None N None 8.27E-05 2.83E-05 None 0 5.13E-05 None 0 None 0 7.83E-06 0
H/R 25656 Fn3-74 56 rs755172663 0.1459 -0.098 0.571 N 0.261 0.195 None gnomAD-3.1.2 1.97E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 1.47E-05 0 0
H/R 25656 Fn3-74 56 rs755172663 0.1459 -0.098 0.571 N 0.261 0.195 None gnomAD-4.0.0 1.02555E-05 None None None None N None 5.07597E-05 1.69612E-05 None 0 4.8499E-05 None 0 0 4.78923E-06 0 0
H/Y 25656 Fn3-74 56 rs781451643 0.1117 1.203 0.92 N 0.331 0.184 None gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 3.34001E-04 None 0 None 0 0 0
H/Y 25656 Fn3-74 56 rs781451643 0.1117 1.203 0.92 N 0.331 0.184 None gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 3.86698E-04 None 0 0 0 0 0
H/Y 25656 Fn3-74 56 rs781451643 0.1117 1.203 0.92 N 0.331 0.184 None gnomAD-4.0.0 5.08354E-05 None None None None N None 0 0 None 0 1.78309E-03 None 0 0 0 0 3.20379E-05
A/T 25946 Fn3-76 57 rs1559369489 0.5448 None 1.0 N 0.656 0.261 0.299427821978 gnomAD-4.0.0 4.79048E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39763E-06 1.15939E-05 0
A/V 25946 Fn3-76 57 rs1706728801 0.5397 None 1.0 N 0.589 0.329 0.534239989213 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
A/V 25946 Fn3-76 57 rs1706728801 0.5397 None 1.0 N 0.589 0.329 0.534239989213 gnomAD-4.0.0 6.57644E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78011E-04
H/N 26046 Fn3-77 57 rs747097682 0.0723 -0.336 0.285 N 0.169 0.363 0.180583059064 gnomAD-2.1.1 3.63E-05 None None None None I None 0 2.32194E-04 None 0 0 None 0 None 4.65E-05 0 0
H/N 26046 Fn3-77 57 rs747097682 0.0723 -0.336 0.285 N 0.169 0.363 0.180583059064 gnomAD-3.1.2 6.58E-06 None None None None I None 0 6.56E-05 0 0 0 None 0 0 0 0 0
H/N 26046 Fn3-77 57 rs747097682 0.0723 -0.336 0.285 N 0.169 0.363 0.180583059064 gnomAD-4.0.0 1.28176E-05 None None None None I None 0 1.69601E-04 None 0 0 None 0 0 0 0 0
H/R 26046 Fn3-77 57 rs780141110 0.0621 -0.58 0.166 N 0.161 0.13 None gnomAD-2.1.1 7.16E-06 None None None None I None 8.27E-05 0 None 0 0 None 0 None 0 0 0
H/R 26046 Fn3-77 57 rs780141110 0.0621 -0.58 0.166 N 0.161 0.13 None gnomAD-3.1.2 1.31E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
H/R 26046 Fn3-77 57 rs780141110 0.0621 -0.58 0.166 N 0.161 0.13 None gnomAD-4.0.0 3.04495E-06 None None None None I None 3.4943E-05 0 None 0 0 None 0 0 1.20496E-06 0 0
H/Y 26046 Fn3-77 57 rs747097682 0.0934 1.071 0.856 N 0.224 0.354 0.257292322809 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
H/Y 26046 Fn3-77 57 rs747097682 0.0934 1.071 0.856 N 0.224 0.354 0.257292322809 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
H/Y 26046 Fn3-77 57 rs747097682 0.0934 1.071 0.856 N 0.224 0.354 0.257292322809 gnomAD-4.0.0 3.84526E-06 None None None None I None 0 1.69601E-05 None 0 0 None 0 0 2.39415E-06 1.34037E-05 0
I/M 26144 Fn3-78 57 rs759786276 0.0841 -0.359 0.772 N 0.408 0.11 None gnomAD-2.1.1 8.08E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 8.94E-06 0
I/M 26144 Fn3-78 57 rs759786276 0.0841 -0.359 0.772 N 0.408 0.11 None gnomAD-3.1.2 1.32E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
I/M 26144 Fn3-78 57 rs759786276 0.0841 -0.359 0.772 N 0.408 0.11 None gnomAD-4.0.0 3.72256E-06 None None None None I None 6.66773E-05 0 None 0 0 None 0 0 8.48679E-07 0 0
I/N 26144 Fn3-78 57 None 0.3479 None 0.772 N 0.414 0.126 0.437527004654 gnomAD-4.0.0 6.85105E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16031E-05 0
I/T 26144 Fn3-78 57 rs183015944 0.097 -0.651 0.001 N 0.144 0.106 None gnomAD-2.1.1 1.69715E-04 None None None None I None 1.29282E-04 3.48918E-04 None 0 1.11932E-04 None 6.88254E-04 None 4.67E-05 2.68E-05 1.67001E-04
I/T 26144 Fn3-78 57 rs183015944 0.097 -0.651 0.001 N 0.144 0.106 None gnomAD-3.1.2 5.92E-05 None None None None I None 1.20621E-04 0 0 0 0 None 9.42E-05 0 2.94E-05 2.07211E-04 0
I/T 26144 Fn3-78 57 rs183015944 0.097 -0.651 0.001 N 0.144 0.106 None 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
I/T 26144 Fn3-78 57 rs183015944 0.097 -0.651 0.001 N 0.144 0.106 None gnomAD-4.0.0 6.20404E-05 None None None None I None 9.33308E-05 2.00214E-04 None 0 6.70541E-05 None 4.69395E-05 0 1.7822E-05 5.71391E-04 3.20492E-05
V/E 26342 Fn3-79 57 None 0.1991 None 0.983 N 0.547 0.449 0.572556545866 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
T/I 26442 Fn3-80 57 rs1288656149 0.3186 0.028 0.994 N 0.684 0.51 0.509762279564 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
T/I 26442 Fn3-80 57 rs1288656149 0.3186 0.028 0.994 N 0.684 0.51 0.509762279564 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.06868E-04 0
T/I 26442 Fn3-80 57 rs1288656149 0.3186 0.028 0.994 N 0.684 0.51 0.509762279564 gnomAD-4.0.0 2.56379E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.67996E-05 0
T/R 26442 Fn3-80 57 None 0.3699 None 0.994 N 0.684 0.457 0.584086171949 gnomAD-4.0.0 1.59234E-06 None None None None I None 0 0 None 0 2.77747E-05 None 0 0 0 0 0
R/K 26544 Fn3-81 58 rs1008452641 0.0725 0.006 None N 0.184 0.12 0.110078149338 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
R/K 26544 Fn3-81 58 rs1008452641 0.0725 0.006 None N 0.184 0.12 0.110078149338 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
R/K 26544 Fn3-81 58 rs1008452641 0.0725 0.006 None N 0.184 0.12 0.110078149338 gnomAD-4.0.0 3.09919E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54306E-06 2.19563E-05 0
R/S 26544 Fn3-81 58 rs1309466474 0.2976 -0.244 0.002 N 0.285 0.074 0.167679373172 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
R/S 26544 Fn3-81 58 rs1309466474 0.2976 -0.244 0.002 N 0.285 0.074 0.167679373172 gnomAD-4.0.0 1.59189E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85883E-06 0 0
K/E 26834 Fn3-83 55 None 0.6027 None 0.992 N 0.627 0.402 0.289474373501 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
A/P 27028 Fn3-84 57 rs1356707489 0.7921 -0.048 0.994 N 0.709 0.403 0.378674557249 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
A/P 27028 Fn3-84 57 rs1356707489 0.7921 -0.048 0.994 N 0.709 0.403 0.378674557249 gnomAD-4.0.0 6.36639E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14361E-05 0 0
A/V 27028 Fn3-84 57 None 0.5195 None 0.958 N 0.627 0.33 0.47737504017 gnomAD-4.0.0 1.59164E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85897E-06 0 0
Q/R 27425 Fn3-87 57 rs1302788050 0.0967 0.387 0.211 N 0.459 0.17 0.130388298395 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
Q/R 27425 Fn3-87 57 rs1302788050 0.0967 0.387 0.211 N 0.459 0.17 0.130388298395 gnomAD-4.0.0 6.36547E-06 None None None None N None 0 9.14578E-05 None 0 0 None 0 0 0 0 0
T/M 27525 Fn3-88 57 rs1321989289 0.0959 -0.135 0.999 N 0.353 0.308 0.600746198033 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
T/M 27525 Fn3-88 57 rs1321989289 0.0959 -0.135 0.999 N 0.353 0.308 0.600746198033 gnomAD-4.0.0 4.78947E-06 None None None None N None 0 0 None 0 5.04007E-05 None 0 0 3.59791E-06 0 1.65656E-05
Q/H 27627 Fn3-89 58 rs878939366 0.1578 None 0.009 N 0.19 0.083 0.190952846119 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 27627 Fn3-89 58 None 0.0934 0.385 0.016 N 0.171 0.239 0.156986980423 gnomAD-2.1.1 1.79E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.92E-05 0
Q/K 27627 Fn3-89 58 None 0.0934 0.385 0.016 N 0.171 0.239 0.156986980423 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
Q/K 27627 Fn3-89 58 None 0.0934 0.385 0.016 N 0.171 0.239 0.156986980423 gnomAD-4.0.0 3.71847E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08595E-06 0 0
T/A 27821 Fn3-90 56 rs1704127036 0.0718 None 0.165 N 0.275 0.103 0.176091768786 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
T/A 27821 Fn3-90 56 rs1704127036 0.0718 None 0.165 N 0.275 0.103 0.176091768786 gnomAD-4.0.0 6.57298E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47007E-05 0 0
T/S 27821 Fn3-90 56 None 0.0807 None 0.492 N 0.267 0.122 0.152612264143 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
K/E 27917 Fn3-91 55 rs1363288051 0.6794 0.085 0.777 N 0.563 0.218 0.250579442822 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 3.35E-05 None 0 0 0
K/E 27917 Fn3-91 55 rs1363288051 0.6794 0.085 0.777 N 0.563 0.218 0.250579442822 gnomAD-4.0.0 2.05588E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80019E-06 1.16724E-05 0
K/N 27917 Fn3-91 55 rs746705899 0.7704 None 0.976 N 0.675 0.251 0.194818534648 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/N 27917 Fn3-91 55 rs746705899 0.7704 None 0.976 N 0.675 0.251 0.194818534648 gnomAD-4.0.0 1.24129E-06 None None None None N None 1.33704E-05 0 None 0 0 None 0 0 8.48215E-07 0 0
A/S 28110 Fn3-92 56 None 0.1576 None 0.944 N 0.418 0.2 0.275215494804 gnomAD-4.0.0 1.36858E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79901E-06 0 0
A/T 28110 Fn3-92 56 None 0.2082 None 0.892 N 0.446 0.195 0.278968121808 gnomAD-4.0.0 6.84288E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99504E-07 0 0
Q/K 28308 Fn3-94 57 rs794729516 0.1075 0.384 0.117 N 0.411 0.179 0.107399877778 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
Q/K 28308 Fn3-94 57 rs794729516 0.1075 0.384 0.117 N 0.411 0.179 0.107399877778 gnomAD-4.0.0 1.09496E-05 None None None None I None 0 0 None 0 0 None 0 0 1.43912E-05 0 0
Q/P 28308 Fn3-94 57 rs201674674 0.067 0.294 None N 0.205 0.116 None gnomAD-2.1.1 2.03909E-04 None None None None I None 4.13E-05 1.98222E-04 None 0 0 None 0 None 4.02E-05 3.60264E-04 2.81215E-04
Q/P 28308 Fn3-94 57 rs201674674 0.067 0.294 None N 0.205 0.116 None gnomAD-3.1.2 2.23446E-04 None None None None I None 1.20645E-04 6.55E-05 0 0 0 None 9.41E-05 0 3.82252E-04 0 4.78011E-04
Q/P 28308 Fn3-94 57 rs201674674 0.067 0.294 None N 0.205 0.116 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
Q/P 28308 Fn3-94 57 rs201674674 0.067 0.294 None N 0.205 0.116 None gnomAD-4.0.0 2.60909E-04 None None None None I None 6.66365E-05 2E-04 None 0 0 None 4.6991E-05 8.2481E-04 3.2124E-04 1.09801E-05 2.56115E-04
Q/H 28506 Fn3-95 57 rs1387892169 0.1566 0.143 0.196 N 0.275 0.039 0.154104182512 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
Q/H 28506 Fn3-95 57 rs1387892169 0.1566 0.143 0.196 N 0.275 0.039 0.154104182512 gnomAD-4.0.0 6.84319E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65711E-05
Q/K 28506 Fn3-95 57 rs201272728 0.0629 0.424 None N 0.085 0.065 None gnomAD-2.1.1 4.47859E-04 None None None None N None 7.44971E-04 1.75687E-03 None 0 0 None 0 None 0 2.90593E-04 1.12803E-03
Q/K 28506 Fn3-95 57 rs201272728 0.0629 0.424 None N 0.085 0.065 None gnomAD-3.1.2 4.6681E-04 None None None None N None 7.24428E-04 1.57253E-03 0 0 0 None 0 3.16456E-03 1.32326E-04 0 3.34288E-03
Q/K 28506 Fn3-95 57 rs201272728 0.0629 0.424 None N 0.085 0.065 None 1000 genomes 3.99361E-04 None None None None N None 8E-04 0 None None 0 1E-03 None None None 0 None
Q/K 28506 Fn3-95 57 rs201272728 0.0629 0.424 None N 0.085 0.065 None gnomAD-4.0.0 2.82616E-04 None None None None N None 6.79982E-04 1.53364E-03 None 0 0 None 0 2.64026E-03 1.98344E-04 0 1.00855E-03
Y/C 28606 Fn3-96 57 rs748945937 0.128 0.144 0.986 N 0.644 0.307 0.411133732114 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.65837E-04
Y/F 28606 Fn3-96 57 rs748945937 0.1223 -0.004 0.008 N 0.263 0.086 0.197625483188 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
Y/F 28606 Fn3-96 57 rs748945937 0.1223 -0.004 0.008 N 0.263 0.086 0.197625483188 gnomAD-4.0.0 3.1826E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86549E-05 0
Y/H 28606 Fn3-96 57 rs757029350 0.2295 0.35 0.983 N 0.602 0.255 0.285698343383 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
Y/H 28606 Fn3-96 57 rs757029350 0.2295 0.35 0.983 N 0.602 0.255 0.285698343383 gnomAD-4.0.0 6.36507E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14327E-05 0 0
R/Q 28706 Fn3-97 56 rs199788826 0.1062 -0.025 0.271 N 0.447 0.08 None gnomAD-2.1.1 7.46049E-04 None None None None N None 0 1.1325E-04 None 0 1.03018E-04 None 3.56349E-03 None 2.95811E-03 9.46E-05 9.87028E-04
R/Q 28706 Fn3-97 56 rs199788826 0.1062 -0.025 0.271 N 0.447 0.08 None gnomAD-3.1.2 3.41826E-04 None None None None N None 4.83E-05 0 0 0 0 None 2.35671E-03 0 8.82E-05 3.93538E-03 0
R/Q 28706 Fn3-97 56 rs199788826 0.1062 -0.025 0.271 N 0.447 0.08 None 1000 genomes 7.98722E-04 None None None None N None 0 0 None None 0 0 None None None 4.1E-03 None
R/Q 28706 Fn3-97 56 rs199788826 0.1062 -0.025 0.271 N 0.447 0.08 None gnomAD-4.0.0 3.61281E-04 None None None None N None 3.99797E-05 6.668E-05 None 0 4.46588E-05 None 2.75146E-03 8.25083E-04 3.81422E-05 3.51347E-03 4.48172E-04
N/K 28900 Fn3-98 56 rs727504793 0.2731 0.452 None N 0.101 0.146 0.0884992946249 gnomAD-4.0.0 2.05275E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69857E-06 0 0
A/G 29193 Fn3-100 57 rs1185795292 0.3644 -0.741 1.0 N 0.527 0.346 0.296329037015 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 9.94E-05 0 None 0 None 0 0 0
A/G 29193 Fn3-100 57 rs1185795292 0.3644 -0.741 1.0 N 0.527 0.346 0.296329037015 gnomAD-4.0.0 1.59107E-06 None None None None N None 0 0 None 4.76644E-05 0 None 0 0 0 0 0
A/T 29193 Fn3-100 57 rs780827964 0.229 -0.72 1.0 N 0.672 0.251 0.260249123532 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
A/T 29193 Fn3-100 57 rs780827964 0.229 -0.72 1.0 N 0.672 0.251 0.260249123532 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
A/T 29193 Fn3-100 57 rs780827964 0.229 -0.72 1.0 N 0.672 0.251 0.260249123532 gnomAD-4.0.0 5.07456E-06 None None None None N None 0 0 None 0 0 None 0 0 6.02452E-06 0 0
R/C 29293 Fn3-101 57 rs191482653 0.1887 -0.197 1.0 N 0.797 0.464 None gnomAD-2.1.1 1.92691E-03 None None None None I None 0 0 None 0 2.60379E-02 None 1.63388E-04 None 0 1.63983E-04 8.41515E-04
R/C 29293 Fn3-101 57 rs191482653 0.1887 -0.197 1.0 N 0.797 0.464 None gnomAD-3.1.2 7.49389E-04 None None None None I None 2.41E-05 6.55E-05 0 0 2.04633E-02 None 9.43E-05 0 4.41E-05 2.06868E-04 4.78469E-04
R/C 29293 Fn3-101 57 rs191482653 0.1887 -0.197 1.0 N 0.797 0.464 None 1000 genomes 3.19489E-03 None None None None I None 0 0 None None 1.59E-02 0 None None None 0 None
R/C 29293 Fn3-101 57 rs191482653 0.1887 -0.197 1.0 N 0.797 0.464 None Sasaki (2020) None Other comp het with A9980T, A19938T None None I Genetic analysis of 2 siblings with asymmetric facial and limb weakness; variant prioritisation; no validation None None None None None None None None None None None
R/C 29293 Fn3-101 57 rs191482653 0.1887 -0.197 1.0 N 0.797 0.464 None gnomAD-4.0.0 6.71047E-04 None None None None I None 2.66546E-05 1.66644E-05 None 0 1.87703E-02 None 3.1249E-05 3.30033E-04 8.89942E-05 2.08589E-04 1.76051E-03
R/H 29293 Fn3-101 57 rs202001776 0.1109 -0.539 1.0 N 0.778 0.376 None gnomAD-2.1.1 7.14E-05 None None None None I None 4.95991E-04 5.65E-05 None 0 0 None 9.8E-05 None 0 2.34E-05 0
R/H 29293 Fn3-101 57 rs202001776 0.1109 -0.539 1.0 N 0.778 0.376 None gnomAD-3.1.2 1.57752E-04 None None None None I None 4.82532E-04 1.30976E-04 0 0 0 None 0 0 1.47E-05 2.07211E-04 0
R/H 29293 Fn3-101 57 rs202001776 0.1109 -0.539 1.0 N 0.778 0.376 None gnomAD-4.0.0 3.90384E-05 None None None None I None 3.60356E-04 6.66733E-05 None 0 0 None 0 0 1.52562E-05 1.20768E-04 4.80277E-05
T/S 29391 Fn3-102 57 rs771850921 0.1003 -1.009 0.002 N 0.159 0.084 0.0482279557977 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
T/S 29391 Fn3-102 57 rs771850921 0.1003 -1.009 0.002 N 0.159 0.084 0.0482279557977 gnomAD-4.0.0 1.36844E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79889E-06 0 0
E/K 29589 Fn3-103 57 rs773486662 0.1205 0.483 0.852 N 0.251 0.251 0.241664281697 gnomAD-2.1.1 4.02E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
E/K 29589 Fn3-103 57 rs773486662 0.1205 0.483 0.852 N 0.251 0.251 0.241664281697 gnomAD-4.0.0 2.0525E-06 None None None None I None 5.97443E-05 0 None 0 2.52016E-05 None 0 0 0 0 0
E/Q 29589 Fn3-103 57 rs773486662 0.1221 0.044 0.31 N 0.147 0.151 0.247872288689 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
E/Q 29589 Fn3-103 57 rs773486662 0.1221 0.044 0.31 N 0.147 0.151 0.247872288689 gnomAD-4.0.0 6.84166E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15931E-05 0
R/C 29689 Fn3-104 57 rs781635476 0.2684 -0.111 1.0 N 0.747 0.384 0.591526896791 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
R/C 29689 Fn3-104 57 rs781635476 0.2684 -0.111 1.0 N 0.747 0.384 0.591526896791 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
R/C 29689 Fn3-104 57 rs781635476 0.2684 -0.111 1.0 N 0.747 0.384 0.591526896791 gnomAD-4.0.0 1.42536E-05 None None None None N None 2.67001E-05 5.00217E-05 None 0 2.22866E-05 None 0 0 1.27138E-05 0 3.20236E-05
R/G 29689 Fn3-104 57 rs781635476 0.3523 None 1.0 N 0.645 0.345 0.475971816791 gnomAD-4.0.0 6.8422E-07 None None None None N None 0 0 None 0 2.51927E-05 None 0 0 0 0 0
R/H 29689 Fn3-104 57 rs368634670 0.1606 -0.57 1.0 N 0.791 0.304 None gnomAD-2.1.1 3.57E-05 None None None None N None 1.65358E-04 2.83E-05 None 0 0 None 0 None 0 3.91E-05 0
R/H 29689 Fn3-104 57 rs368634670 0.1606 -0.57 1.0 N 0.791 0.304 None gnomAD-3.1.2 1.11732E-04 None None None None N None 2.89645E-04 0 0 0 0 None 0 0 7.35E-05 0 0
R/H 29689 Fn3-104 57 rs368634670 0.1606 -0.57 1.0 N 0.791 0.304 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
R/H 29689 Fn3-104 57 rs368634670 0.1606 -0.57 1.0 N 0.791 0.304 None gnomAD-4.0.0 4.39954E-05 None None None None N None 1.99936E-04 3.33289E-05 None 0 0 None 0 0 4.49223E-05 1.09796E-05 0
R/S 29791 Fn3-105 58 None 0.5562 None 0.98 N 0.589 0.291 0.253205268125 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
R/T 29791 Fn3-105 58 rs1360436599 0.2839 -0.062 0.99 N 0.582 0.376 0.418095516054 gnomAD-2.1.1 4.02E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
R/T 29791 Fn3-105 58 rs1360436599 0.2839 -0.062 0.99 N 0.582 0.376 0.418095516054 gnomAD-4.0.0 3.18227E-06 None None None None I None 0 4.57247E-05 None 0 0 None 0 0 0 0 0
S/A 29988 Fn3-106 56 rs1291865715 0.0739 -0.256 0.001 N 0.099 0.072 0.16115917748 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
S/A 29988 Fn3-106 56 rs1291865715 0.0739 -0.256 0.001 N 0.099 0.072 0.16115917748 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
S/A 29988 Fn3-106 56 rs1291865715 0.0739 -0.256 0.001 N 0.099 0.072 0.16115917748 gnomAD-4.0.0 6.57644E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47063E-05 0 0
S/F 29988 Fn3-106 56 rs1313004711 0.1711 -1.025 0.317 N 0.331 0.272 0.416454006429 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
S/F 29988 Fn3-106 56 rs1313004711 0.1711 -1.025 0.317 N 0.331 0.272 0.416454006429 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.92604E-04 None 0 0 0 0 0
S/F 29988 Fn3-106 56 rs1313004711 0.1711 -1.025 0.317 N 0.331 0.272 0.416454006429 gnomAD-4.0.0 6.57566E-06 None None None None N None 0 0 None 0 1.92604E-04 None 0 0 0 0 0
K/E 30084 Fn3-107 55 rs376597164 0.5008 0.404 0.992 N 0.598 0.333 0.343334270461 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 2.78707E-04 None 0 None 0 0 0
K/E 30084 Fn3-107 55 rs376597164 0.5008 0.404 0.992 N 0.598 0.333 0.343334270461 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92753E-04 None 0 0 0 0 0
K/E 30084 Fn3-107 55 rs376597164 0.5008 0.404 0.992 N 0.598 0.333 0.343334270461 gnomAD-4.0.0 3.71754E-06 None None None None N None 0 0 None 0 1.11478E-04 None 0 0 0 0 1.60031E-05
K/Q 30084 Fn3-107 55 rs376597164 0.2977 0.208 0.998 N 0.727 0.341 None gnomAD-2.1.1 7.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.56E-05 0
K/Q 30084 Fn3-107 55 rs376597164 0.2977 0.208 0.998 N 0.727 0.341 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
K/Q 30084 Fn3-107 55 rs376597164 0.2977 0.208 0.998 N 0.727 0.341 None gnomAD-4.0.0 2.23069E-05 None None None None N None 0 0 None 0 0 None 0 0 3.05122E-05 0 0
K/T 30084 Fn3-107 55 rs752585224 0.513 0.017 0.999 N 0.68 0.353 0.370608029945 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
A/S 30280 Fn3-108 57 rs752021114 0.1195 -0.79 0.016 N 0.127 0.049 0.206339911435 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
A/S 30280 Fn3-108 57 rs752021114 0.1195 -0.79 0.016 N 0.127 0.049 0.206339911435 gnomAD-4.0.0 1.59152E-06 None None None None N None 0 0 None 0 2.77346E-05 None 0 0 0 0 0
A/T 30280 Fn3-108 57 None 0.1153 None 0.004 N 0.158 0.059 0.224531998449 gnomAD-4.0.0 1.59152E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85855E-06 0 0
A/V 30280 Fn3-108 57 rs868306395 0.1451 None 0.007 N 0.07 0.103 0.297718772494 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
S/N 30477 Fn3-110 56 None 0.1253 None 0.822 N 0.482 0.139 0.255270683199 gnomAD-4.0.0 6.84373E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15974E-05 0
S/T 30477 Fn3-110 56 rs1699253758 0.0666 None 0.014 N 0.199 0.092 0.183819452728 gnomAD-4.0.0 6.84373E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99593E-07 0 0
E/A 30675 Fn3-111 57 rs765085883 0.1267 0.037 0.41 N 0.61 0.222 0.322510055762 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.87E-06 0
E/A 30675 Fn3-111 57 rs765085883 0.1267 0.037 0.41 N 0.61 0.222 0.322510055762 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
E/A 30675 Fn3-111 57 rs765085883 0.1267 0.037 0.41 N 0.61 0.222 0.322510055762 gnomAD-4.0.0 3.09843E-06 None None None None I None 0 0 None 0 0 None 0 0 4.23806E-06 0 0
E/K 30675 Fn3-111 57 None 0.1037 None 0.41 N 0.579 0.186 0.263612267334 gnomAD-4.0.0 1.59138E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85847E-06 0 0
S/A 30776 Fn3-112 58 None 0.0624 None None N 0.121 0.06 0.0954503805726 gnomAD-4.0.0 1.59101E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85776E-06 0 0
V/M 30877 Fn3-113 57 None 0.0995 None 0.81 N 0.508 0.163 0.254244900254 gnomAD-4.0.0 3.18218E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85786E-06 1.43279E-05 0
T/A 31071 Fn3-114 56 rs1321544592 0.072 -0.168 None N 0.075 0.093 0.170165803431 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
T/A 31071 Fn3-114 56 rs1321544592 0.072 -0.168 None N 0.075 0.093 0.170165803431 gnomAD-4.0.0 1.59114E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85804E-06 0 0
T/I 31071 Fn3-114 56 rs780080115 0.1134 None None D 0.156 0.156 None 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/R 31364 Fn3-116 57 rs377256863 0.1027 -0.026 0.999 N 0.559 0.297 None gnomAD-2.1.1 4.83E-05 None None None None N None 0 3.19211E-04 None 0 0 None 0 None 0 0 1.66113E-04
K/R 31364 Fn3-116 57 rs377256863 0.1027 -0.026 0.999 N 0.559 0.297 None gnomAD-3.1.2 5.91E-05 None None None None N None 0 5.23766E-04 0 0 0 None 0 0 1.47E-05 0 0
K/R 31364 Fn3-116 57 rs377256863 0.1027 -0.026 0.999 N 0.559 0.297 None gnomAD-4.0.0 2.30591E-05 None None None None N None 0 2.88136E-04 None 0 0 None 0 0 2.39293E-06 0 0
S/P 31565 Fn3-118 60 None 0.1092 None 0.998 N 0.659 0.301 0.238705975628 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 1.01626E-03 None 0 0 None 0 0 0 0 0
S/Y 31565 Fn3-118 60 rs1354829063 0.3525 -0.562 0.998 N 0.693 0.384 0.697601327402 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.92E-06 0
S/Y 31565 Fn3-118 60 rs1354829063 0.3525 -0.562 0.998 N 0.693 0.384 0.697601327402 gnomAD-4.0.0 1.09474E-05 None None None None I None 0 0 None 0 0 None 0 0 1.43917E-05 0 0
P/L 31763 Fn3-119 56 None 0.0836 None None N 0.181 0.084 0.396494342077 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
P/S 31763 Fn3-119 56 None 0.0826 None 0.012 N 0.271 0.184 0.144782658237 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
Y/C 31864 Fn3-120 58 None 0.1308 None 1.0 N 0.799 0.552 0.581377893825 gnomAD-4.0.0 5.47409E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59822E-06 3.47826E-05 1.65684E-05
Y/F 31864 Fn3-120 58 None 0.1224 None 0.999 N 0.575 0.42 0.417081434665 gnomAD-4.0.0 6.84261E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99556E-07 0 0
Y/H 31864 Fn3-120 58 None 0.1908 None 1.0 N 0.733 0.462 0.417208245017 gnomAD-4.0.0 3.18308E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85914E-06 0 3.0248E-05
R/I 31966 Fn3-121 58 rs772097745 0.2928 0.336 0.947 N 0.613 0.299 0.51469891142 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 4.64E-05 0 0
R/I 31966 Fn3-121 58 rs772097745 0.2928 0.336 0.947 N 0.613 0.299 0.51469891142 gnomAD-4.0.0 1.59138E-06 None None None None I None 0 0 None 0 0 None 1.88274E-05 0 0 0 0
R/K 31966 Fn3-121 58 None 0.0923 0.091 0.028 N 0.206 0.197 0.149567049428 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
R/K 31966 Fn3-121 58 None 0.0923 0.091 0.028 N 0.206 0.197 0.149567049428 gnomAD-4.0.0 7.95692E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85863E-06 5.73099E-05 0
R/T 31966 Fn3-121 58 rs772097745 0.2438 0.005 0.028 N 0.268 0.212 0.356690202451 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
R/T 31966 Fn3-121 58 rs772097745 0.2438 0.005 0.028 N 0.268 0.212 0.356690202451 gnomAD-4.0.0 1.59138E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
K/N 32656 Fn3-126 57 None 0.6206 None 1.0 N 0.707 0.327 0.185906805712 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
R/Q 32851 Fn3-127 57 rs775915301 0.1031 -0.051 0.91 N 0.251 0.193 0.146414634003 gnomAD-2.1.1 5.71E-05 None None None None N None 4.13E-05 3.39309E-04 None 0 1.02407E-04 None 3.27E-05 None 0 0 0
R/Q 32851 Fn3-127 57 rs775915301 0.1031 -0.051 0.91 N 0.251 0.193 0.146414634003 gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.31096E-04 0 0 0 None 0 0 1.47E-05 0 0
R/Q 32851 Fn3-127 57 rs775915301 0.1031 -0.051 0.91 N 0.251 0.193 0.146414634003 gnomAD-4.0.0 2.29295E-05 None None None None N None 1.33568E-05 3.0011E-04 None 0 4.45692E-05 None 0 0 1.18666E-05 1.09789E-05 1.60108E-05
T/A 32953 Fn3-128 58 rs1179770836 0.1263 -0.944 0.999 N 0.431 0.406 0.321951552304 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
T/A 32953 Fn3-128 58 rs1179770836 0.1263 -0.944 0.999 N 0.431 0.406 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
T/A 32953 Fn3-128 58 rs1179770836 0.1263 -0.944 0.999 N 0.431 0.406 0.321951552304 gnomAD-4.0.0 7.43657E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01718E-05 0 0
T/I 32953 Fn3-128 58 None 0.4027 None 1.0 N 0.685 0.443 0.619116397592 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
K/Q 33054 Fn3-129 57 rs1553507202 0.1574 None 0.957 N 0.281 0.171 0.315314060047 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/Q 33054 Fn3-129 57 rs1553507202 0.1574 None 0.957 N 0.281 0.171 0.315314060047 gnomAD-4.0.0 6.5722E-06 None None None None N None 2.41359E-05 0 None 0 0 None 0 0 0 0 0
S/P 33347 Fn3-130 58 rs1575319690 0.2172 None 0.949 N 0.645 0.304 0.27479166964 gnomAD-4.0.0 3.60097E-06 None None None None I None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
R/P 33448 Fn3-131 57 rs1315622743 0.4267 None 0.996 N 0.63 0.345 0.313210971179 gnomAD-4.0.0 2.7372E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59811E-06 0 0
R/Q 33448 Fn3-131 57 rs1315622743 0.1201 None 0.983 N 0.496 0.149 0.119812018005 gnomAD-4.0.0 9.58021E-06 None None None None N None 0 0 None 0 0 None 0 0 1.16939E-05 1.15947E-05 0
R/L 33743 Fn3-132 55 None 0.3736 None 0.901 N 0.525 0.272 0.483374165343 gnomAD-4.0.0 6.84183E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99425E-07 0 0
R/Q 33743 Fn3-132 55 rs746547856 0.1394 0.259 0.996 N 0.537 0.274 0.17258766438 gnomAD-2.1.1 7.13E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
R/Q 33743 Fn3-132 55 rs746547856 0.1394 0.259 0.996 N 0.537 0.274 0.17258766438 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 1.92382E-04 None 0 0 0 0 0
R/Q 33743 Fn3-132 55 rs746547856 0.1394 0.259 0.996 N 0.537 0.274 0.17258766438 gnomAD-4.0.0 1.1154E-05 None None None None N None 1.33486E-05 0 None 0 4.45474E-05 None 0 0 1.01708E-05 0 4.80292E-05

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.