Structural position:

  • Domain Type: Fn3
  • Aligned Position: 119
  • 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 15742 Fn3-1 86 rs1209372495 0.2005 -0.488 0.98 D 0.636 0.311 0.420199648628 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
E/G 15742 Fn3-1 86 rs1209372495 0.2005 -0.488 0.98 D 0.636 0.311 0.420199648628 gnomAD-4.0.0 1.59321E-06 None None None None I None 0 2.2876E-05 None 0 0 None 0 0 0 0 0
E/K 15742 Fn3-1 86 rs1233336228 0.1288 0.684 0.98 N 0.601 0.255 0.339316883193 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
E/K 15742 Fn3-1 86 rs1233336228 0.1288 0.684 0.98 N 0.601 0.255 0.339316883193 gnomAD-4.0.0 4.77969E-06 None None None None I None 0 0 None 0 0 None 0 0 8.58674E-06 0 0
D/N 15944 Fn3-3 86 None 0.1825 None 0.999 N 0.741 0.277 0.277317399466 gnomAD-4.0.0 1.614E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.46361E-05 0
D/V 15944 Fn3-3 86 rs1442512599 0.3037 0.007 0.999 N 0.779 0.521 0.59676212909 gnomAD-4.0.0 1.61302E-06 None None None None I None 0 0 None 4.81047E-05 0 None 0 0 0 0 0
D/Y 15944 Fn3-3 86 None 0.3411 None 1.0 D 0.782 0.399 0.647688206944 gnomAD-4.0.0 1.614E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.46361E-05 0
E/D 16435 Fn3-6 85 rs1407270484 0.0899 None 0.906 N 0.407 0.142 0.283371740733 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
E/D 16435 Fn3-6 85 rs1407270484 0.0899 None 0.906 N 0.407 0.142 0.283371740733 gnomAD-4.0.0 2.03037E-06 None None None None N None 0 6.16599E-05 None 0 0 None 0 0 1.20507E-06 0 0
E/K 16435 Fn3-6 85 rs886044255 0.2479 None 0.92 N 0.432 0.288 0.276482976112 gnomAD-4.0.0 3.42356E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49919E-06 0 0
K/I 16535 Fn3-7 86 rs975321413 0.6046 None 0.994 D 0.732 0.541 0.629195211289 gnomAD-4.0.0 1.37035E-06 None None None None I None 0 0 None 0 0 None 0 0 1.80024E-06 0 0
K/Q 16535 Fn3-7 86 None 0.3075 None 0.988 N 0.73 0.263 0.210429274316 gnomAD-4.0.0 2.0555E-06 None None None None I None 0 0 None 0 0 None 0 0 2.70035E-06 0 0
E/D 16635 Fn3-8 85 None 0.1115 None 0.434 N 0.272 0.15 0.185906805712 gnomAD-4.0.0 1.59427E-06 None None None None N None 0 0 None 0 2.79408E-05 None 0 0 0 0 0
D/E 16735 Fn3-9 85 None 0.1983 None 0.248 N 0.168 0.089 0.137902524267 gnomAD-4.0.0 6.84702E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99883E-07 0 0
D/N 16735 Fn3-9 85 rs773927256 0.1968 -0.258 0.996 N 0.652 0.224 0.223847106136 gnomAD-2.1.1 8.07E-06 None None None None I None 0 2.91E-05 None 0 5.65E-05 None 0 None 0 0 0
D/N 16735 Fn3-9 85 rs773927256 0.1968 -0.258 0.996 N 0.652 0.224 0.223847106136 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07814E-04 0
D/N 16735 Fn3-9 85 rs773927256 0.1968 -0.258 0.996 N 0.652 0.224 0.223847106136 gnomAD-4.0.0 1.41157E-05 None None None None I None 0 3.3942E-05 None 0 0 None 0 0 9.58598E-06 5.36567E-05 2.85079E-05
E/D 16938 Fn3-11 87 rs779893350 0.0675 -0.342 0.006 N 0.205 0.046 0.0611884634855 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
E/D 16938 Fn3-11 87 rs779893350 0.0675 -0.342 0.006 N 0.205 0.046 0.0611884634855 gnomAD-4.0.0 1.59317E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86139E-06 0 0
E/K 16938 Fn3-11 87 rs72677250 0.234 0.315 0.963 N 0.592 0.244 0.355865052028 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
E/K 16938 Fn3-11 87 rs72677250 0.234 0.315 0.963 N 0.592 0.244 0.355865052028 gnomAD-4.0.0 1.23223E-05 None None None None I None 0 2.23794E-05 None 3.83083E-05 0 None 0 0 1.16973E-05 3.47891E-05 0
E/Q 16938 Fn3-11 87 rs72677250 0.1931 -0.084 0.976 N 0.655 0.248 0.280987212366 gnomAD-2.1.1 2.87E-05 None None None None I None 0 2.83E-05 None 0 0 None 0 None 0 5.5E-05 0
E/Q 16938 Fn3-11 87 rs72677250 0.1931 -0.084 0.976 N 0.655 0.248 0.280987212366 gnomAD-3.1.2 2.63E-05 None None None None I None 0 6.55E-05 0 0 0 None 0 0 4.42E-05 0 0
E/Q 16938 Fn3-11 87 rs72677250 0.1931 -0.084 0.976 N 0.655 0.248 0.280987212366 gnomAD-4.0.0 1.61216E-05 None None None None I None 0 1.66828E-05 None 0 0 None 0 0 2.1199E-05 0 0
E/K 17232 Fn3-13 86 rs765280689 0.4029 0.013 0.565 N 0.598 0.157 0.231231049324 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 5.59E-05 None 0 None 0 0 0
E/K 17232 Fn3-13 86 rs765280689 0.4029 0.013 0.565 N 0.598 0.157 0.231231049324 gnomAD-4.0.0 6.85872E-07 None None None None I None 0 0 None 0 2.52564E-05 None 0 0 0 0 0
E/V 17232 Fn3-13 86 None 0.4225 None 0.901 N 0.653 0.309 0.434497104326 gnomAD-4.0.0 1.59989E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87829E-06 0 0
P/A 17455 Fn3-14 87 rs757257344 0.0973 -1.357 0.37 N 0.413 0.201 0.272205846399 gnomAD-2.1.1 4.07E-06 None None None None I None 0 2.92E-05 None 0 0 None 0 None 0 0 0
P/A 17455 Fn3-14 87 rs757257344 0.0973 -1.357 0.37 N 0.413 0.201 0.272205846399 gnomAD-4.0.0 1.59575E-06 None None None None I None 0 2.29368E-05 None 0 0 None 0 0 0 0 0
P/L 17455 Fn3-14 87 rs1489703004 0.1039 -0.719 0.994 N 0.72 0.363 0.603927275247 gnomAD-2.1.1 4.07E-06 None None None None I None 0 0 None 0 0 None 0 None 0 9.01E-06 0
P/L 17455 Fn3-14 87 rs1489703004 0.1039 -0.719 0.994 N 0.72 0.363 0.603927275247 gnomAD-4.0.0 4.11029E-06 None None None None I None 0 0 None 0 0 None 0 3.47826E-04 3.60046E-06 0 0
K/N 17554 Fn3-15 85 rs758615635 0.285 0.244 1.0 N 0.746 0.317 0.267755039894 gnomAD-2.1.1 4.15E-06 None None None None I None 0 0 None 0 0 None 3.45E-05 None 0 0 0
K/N 17554 Fn3-15 85 rs758615635 0.285 0.244 1.0 N 0.746 0.317 0.267755039894 gnomAD-4.0.0 1.61373E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.45926E-05 0
P/L 17654 Fn3-16 86 rs762800771 0.0842 -0.361 0.985 N 0.518 0.333 None gnomAD-2.1.1 2.82E-05 None None None None N None 0 0 None 0 1.6852E-04 None 1.30727E-04 None 0 0 0
P/L 17654 Fn3-16 86 rs762800771 0.0842 -0.361 0.985 N 0.518 0.333 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 1.96902E-04 0 0 0 None 0 0 0 0 0
P/L 17654 Fn3-16 86 rs762800771 0.0842 -0.361 0.985 N 0.518 0.333 None gnomAD-4.0.0 1.17806E-05 None None None None N None 0 5.00584E-05 None 0 8.94895E-05 None 0 0 5.9356E-06 5.49052E-05 0
P/R 17654 Fn3-16 86 rs762800771 0.1635 0.071 0.99 N 0.507 0.409 0.451504584351 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14732E-04 0 None 0 0 None 0 None 0 0 0
P/R 17654 Fn3-16 86 rs762800771 0.1635 0.071 0.99 N 0.507 0.409 0.451504584351 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
P/R 17654 Fn3-16 86 rs762800771 0.1635 0.071 0.99 N 0.507 0.409 0.451504584351 gnomAD-4.0.0 6.58172E-06 None None None None N None 2.41499E-05 0 None 0 0 None 0 0 0 0 0
E/K 17947 Fn3-18 86 rs1445321949 0.2759 0.848 0.928 N 0.649 0.277 0.264547087235 gnomAD-2.1.1 8.1E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.79E-05 0
E/K 17947 Fn3-18 86 rs1445321949 0.2759 0.848 0.928 N 0.649 0.277 0.264547087235 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
E/K 17947 Fn3-18 86 rs1445321949 0.2759 0.848 0.928 N 0.649 0.277 0.264547087235 gnomAD-4.0.0 1.98681E-05 None None None None I None 0 0 None 0 0 None 0 0 2.63147E-05 0 1.60457E-05
D/G 18151 Fn3-19 87 None 0.2552 None 0.996 N 0.723 0.357 0.352910780287 gnomAD-4.0.0 6.93126E-07 None None None None N None 0 0 None 0 0 None 0 0 9.08031E-07 0 0
P/L 18563 Fn3-22 85 rs1188505019 0.1051 None 0.709 N 0.724 0.284 0.615969100344 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
P/L 18563 Fn3-22 85 rs1188505019 0.1051 None 0.709 N 0.724 0.284 0.615969100344 gnomAD-4.0.0 3.12233E-06 None None None None N None 4.02145E-05 0 None 0 0 None 0 0 0 0 3.23144E-05
K/E 18669 Fn3-23 91 rs749362468 0.3494 0.2 0.334 N 0.534 0.17 0.201204373187 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
K/E 18669 Fn3-23 91 rs749362468 0.3494 0.2 0.334 N 0.534 0.17 0.201204373187 gnomAD-4.0.0 1.36911E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.31986E-05 0
K/N 18669 Fn3-23 91 None 0.6096 None 0.549 N 0.565 0.133 0.0954503805726 gnomAD-4.0.0 1.59328E-06 None None None None I None 0 0 None 0 0 None 0 2.41896E-04 0 0 0
E/K 18869 Fn3-24 86 None 0.1719 None 0.891 N 0.473 0.193 0.343101102393 gnomAD-4.0.0 3.68E-06 None None None None N None 0 0 None 0 0 None 0 0 3.75148E-06 1.53619E-05 0
P/Q 19268 Fn3-27 86 None 0.2687 None 1.0 N 0.829 0.439 0.524998368707 gnomAD-4.0.0 1.71411E-06 None None None None N None 0 0 None 0 0 None 0 0 3.07324E-06 0 0
K/E 19369 Fn3-28 86 rs759447234 0.7784 None 0.999 N 0.696 0.395 0.259761712551 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
K/E 19369 Fn3-28 86 rs759447234 0.7784 None 0.999 N 0.696 0.395 0.259761712551 gnomAD-4.0.0 1.43457E-05 None None None None I None 0 1.70045E-05 None 0 0 None 0 0 1.53291E-05 0 6.45557E-05
D/E 19564 Fn3-29 86 rs1236959839 0.1703 -0.475 0.17 N 0.268 0.092 0.101711395817 gnomAD-2.1.1 3.19E-05 None None None None I None 0 0 None 0 6.52742E-04 None 0 None 0 0 0
D/E 19564 Fn3-29 86 rs1236959839 0.1703 -0.475 0.17 N 0.268 0.092 0.101711395817 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.93874E-04 None 0 0 0 0 0
D/E 19564 Fn3-29 86 rs1236959839 0.1703 -0.475 0.17 N 0.268 0.092 0.101711395817 gnomAD-4.0.0 6.08982E-06 None None None None I None 0 0 None 0 2.27583E-04 None 0 0 4.81979E-06 0 0
D/N 19564 Fn3-29 86 rs182400450 0.1482 -0.81 0.046 N 0.231 0.174 None gnomAD-2.1.1 4.05E-06 None None None None I None 6.47E-05 0 None 0 0 None 0 None 0 0 0
D/N 19564 Fn3-29 86 rs182400450 0.1482 -0.81 0.046 N 0.231 0.174 None gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/N 19564 Fn3-29 86 rs182400450 0.1482 -0.81 0.046 N 0.231 0.174 None 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
D/N 19564 Fn3-29 86 rs182400450 0.1482 -0.81 0.046 N 0.231 0.174 None gnomAD-4.0.0 6.56961E-06 None None None None I None 2.40512E-05 0 None 0 0 None 0 0 0 0 0
D/Y 19564 Fn3-29 86 None 0.3291 None 0.999 N 0.772 0.305 0.36256342048 gnomAD-4.0.0 3.18728E-06 None None None None I None 0 0 None 0 0 None 0 2.41896E-04 2.86053E-06 0 0
D/E 19664 Fn3-30 86 rs769129424 0.153 -0.078 0.002 N 0.315 0.097 0.0401082797425 gnomAD-2.1.1 2.15E-05 None None None None I None 0 0 None 0 0 None 0 None 0 4.7E-05 0
D/E 19664 Fn3-30 86 rs769129424 0.153 -0.078 0.002 N 0.315 0.097 0.0401082797425 gnomAD-3.1.2 1.97E-05 None None None None I None 0 6.55E-05 0 0 0 None 0 0 2.94E-05 0 0
D/E 19664 Fn3-30 86 rs769129424 0.153 -0.078 0.002 N 0.315 0.097 0.0401082797425 gnomAD-4.0.0 2.2934E-05 None None None None I None 0 1.66789E-05 None 0 0 None 0 1.64636E-04 2.79752E-05 0 3.20318E-05
D/N 19664 Fn3-30 86 rs921886474 0.1276 None 0.004 N 0.321 0.114 0.221019684889 gnomAD-4.0.0 6.84362E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65711E-05
D/E 19767 Fn3-31 88 rs2050519675 0.1065 None 0.003 N 0.155 0.066 0.0297737177859 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/E 19767 Fn3-31 88 rs2050519675 0.1065 None 0.003 N 0.155 0.066 0.0297737177859 gnomAD-4.0.0 2.4792E-06 None None None None I None 0 0 None 0 0 None 0 0 3.39085E-06 0 0
D/N 19767 Fn3-31 88 rs1559606296 0.1314 None 0.018 N 0.273 0.117 0.159798565429 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.65837E-04
D/N 19767 Fn3-31 88 rs1559606296 0.1314 None 0.018 N 0.273 0.117 0.159798565429 gnomAD-4.0.0 1.59191E-06 None None None None I None 0 0 None 0 0 None 0 2.41546E-04 0 0 0
P/T 19961 Fn3-32 85 None 0.1158 None 0.051 D 0.256 0.196 0.244539031024 gnomAD-4.0.0 1.59297E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43386E-05 0
L/H 20060 Fn3-33 84 rs143364796 0.2104 -0.253 0.928 N 0.523 0.265 None 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
L/H 20060 Fn3-33 84 rs143364796 0.2104 -0.253 0.928 N 0.523 0.265 None gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 5.82524E-04 None 0 0 0 0 0
L/H 20060 Fn3-33 84 rs143364796 0.2104 -0.253 0.928 N 0.523 0.265 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 1E-03 0 None None None 0 None
L/H 20060 Fn3-33 84 rs143364796 0.2104 -0.253 0.928 N 0.523 0.265 None gnomAD-4.0.0 1.48747E-05 None None None None I None 0 1.66678E-05 None 0 5.13301E-04 None 0 0 0 0 0
L/I 20060 Fn3-33 84 rs756818819 0.1071 -0.293 0.001 N 0.209 0.1 0.281780670237 gnomAD-2.1.1 1.21E-05 None None None None I None 0 0 None 0 0 None 0 None 0 2.67E-05 0
L/I 20060 Fn3-33 84 rs756818819 0.1071 -0.293 0.001 N 0.209 0.1 0.281780670237 gnomAD-4.0.0 1.59199E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85981E-06 0 0
P/L 20256 Fn3-34 86 rs1314557712 0.0859 None 0.101 N 0.513 0.21 0.490701487448 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
P/L 20256 Fn3-34 86 rs1314557712 0.0859 None 0.101 N 0.513 0.21 0.490701487448 gnomAD-4.0.0 6.57843E-06 None None None None N None 2.41429E-05 0 None 0 0 None 0 0 0 0 0
E/A 20457 Fn3-36 87 rs541930965 0.2544 -0.475 0.067 N 0.422 0.251 0.268660756437 gnomAD-2.1.1 3.69E-05 None None None None I None 0 0 None 0 0 None 3.71747E-04 None 0 0 0
E/A 20457 Fn3-36 87 rs541930965 0.2544 -0.475 0.067 N 0.422 0.251 0.268660756437 gnomAD-3.1.2 1.32E-05 None None None None I None 0 0 0 0 0 None 0 0 0 4.14594E-04 0
E/A 20457 Fn3-36 87 rs541930965 0.2544 -0.475 0.067 N 0.422 0.251 0.268660756437 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 0 None None None 1E-03 None
E/A 20457 Fn3-36 87 rs541930965 0.2544 -0.475 0.067 N 0.422 0.251 0.268660756437 gnomAD-4.0.0 1.3328E-05 None None None None I None 0 0 None 0 0 None 0 0 0 2.53961E-04 0
E/K 20457 Fn3-36 87 None 0.3297 None 0.958 N 0.584 0.295 0.300110245524 gnomAD-4.0.0 2.10783E-06 None None None None I None 0 0 None 0 0 None 0 0 2.74246E-06 0 0
D/E 20753 Fn3-38 86 None 0.1287 None 0.78 N 0.467 0.115 0.226586394389 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/N 20753 Fn3-38 86 rs879217628 0.0812 None 0.026 N 0.251 0.144 None gnomAD-4.0.0 1.59209E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85905E-06 0 0
D/V 20753 Fn3-38 86 None 0.2084 None 0.896 N 0.668 0.222 0.351830644314 gnomAD-4.0.0 1.59207E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
P/L 20948 Fn3-39 85 rs1203416439 0.1035 -0.565 1.0 N 0.823 0.423 0.711200643742 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
P/L 20948 Fn3-39 85 rs1203416439 0.1035 -0.565 1.0 N 0.823 0.423 0.711200643742 gnomAD-4.0.0 1.77949E-05 None None None None N None 0 0 None 0 0 None 0 0 2.33891E-05 0 0
P/S 20948 Fn3-39 85 None 0.1609 None 1.0 N 0.815 0.392 0.393471546983 gnomAD-4.0.0 6.84434E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15955E-05 0
R/C 21155 Fn3-41 92 rs374727686 0.1825 -0.147 1.0 N 0.775 0.393 None gnomAD-2.1.1 2.95E-05 None None None None I None 0 8.7E-05 None 0 5.34E-05 None 6.69E-05 None 0 1.62E-05 0
R/C 21155 Fn3-41 92 rs374727686 0.1825 -0.147 1.0 N 0.775 0.393 None gnomAD-3.1.2 4.61E-05 None None None None I None 0 6.56E-05 0 0 0 None 0 0 5.89E-05 4.14422E-04 0
R/C 21155 Fn3-41 92 rs374727686 0.1825 -0.147 1.0 N 0.775 0.393 None gnomAD-4.0.0 3.54365E-05 None None None None I None 0 6.73514E-05 None 0 0 None 0 0 3.22829E-05 1.32582E-04 4.8185E-05
R/H 21155 Fn3-41 92 rs373169150 0.1036 -1.036 1.0 N 0.765 0.352 None gnomAD-2.1.1 4.8E-05 None None None None I None 8.53E-05 0 None 0 1.07043E-04 None 3.35E-05 None 0 6.51E-05 0
R/H 21155 Fn3-41 92 rs373169150 0.1036 -1.036 1.0 N 0.765 0.352 None gnomAD-3.1.2 5.26E-05 None None None None I None 0 6.56E-05 0 0 0 None 0 0 1.03005E-04 0 0
R/H 21155 Fn3-41 92 rs373169150 0.1036 -1.036 1.0 N 0.765 0.352 None gnomAD-4.0.0 6.03448E-05 None None None None I None 2.67401E-05 5.05834E-05 None 0 1.35068E-04 None 1.56986E-05 1.6518E-04 6.63112E-05 2.21268E-05 6.42921E-05
R/L 21155 Fn3-41 92 None 0.1948 None 1.0 N 0.682 0.501 0.491863012465 gnomAD-4.0.0 6.87085E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16885E-05 0
V/F 21350 Fn3-42 85 None 0.177 None 0.999 D 0.753 0.284 0.661631946462 gnomAD-4.0.0 4.79076E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29795E-06 0 0
V/I 21350 Fn3-42 85 rs772377673 0.0664 -0.354 0.993 D 0.504 0.231 0.581883730242 gnomAD-2.1.1 2.81E-05 None None None None N None 0 2.9E-05 None 0 5.57E-05 None 1.30727E-04 None 0 0 1.65673E-04
V/I 21350 Fn3-42 85 rs772377673 0.0664 -0.354 0.993 D 0.504 0.231 0.581883730242 gnomAD-4.0.0 1.02659E-05 None None None None N None 8.97559E-05 2.23664E-05 None 0 5.04032E-05 None 0 0 3.59883E-06 3.4785E-05 3.31455E-05
L/F 21451 Fn3-43 86 rs1576014111 0.2181 None 0.004 N 0.277 0.114 0.429203605099 gnomAD-4.0.0 6.84458E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99769E-07 0 0
E/K 21644 Fn3-44 86 None 0.1394 None 0.961 N 0.602 0.265 0.294206760003 gnomAD-4.0.0 2.053E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69884E-06 0 0
D/N 22040 Fn3-47 85 rs560375322 0.1933 -0.777 0.999 N 0.685 0.33 0.309839678437 gnomAD-2.1.1 1.64E-05 None None None None N None 0 0 None 0 0 None 1.36911E-04 None 0 0 0
D/N 22040 Fn3-47 85 rs560375322 0.1933 -0.777 0.999 N 0.685 0.33 0.309839678437 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 1.94099E-04 None 0 0 0 2.08247E-04 0
D/N 22040 Fn3-47 85 rs560375322 0.1933 -0.777 0.999 N 0.685 0.33 0.309839678437 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
D/N 22040 Fn3-47 85 rs560375322 0.1933 -0.777 0.999 N 0.685 0.33 0.309839678437 gnomAD-4.0.0 1.49546E-05 None None None None N None 0 0 None 0 1.34541E-04 None 0 0 1.02117E-05 4.46788E-05 3.22227E-05
D/Y 22040 Fn3-47 85 None 0.4667 None 1.0 N 0.808 0.447 0.481321013822 gnomAD-4.0.0 2.06504E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80642E-06 0 1.66783E-05
D/H 22242 Fn3-49 87 None 0.4789 None 0.99 N 0.624 0.343 0.264081493735 gnomAD-4.0.0 1.59891E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87467E-06 0 0
D/N 22242 Fn3-49 87 None 0.1965 None 0.904 N 0.632 0.275 0.221019684889 gnomAD-4.0.0 1.59891E-06 None None None None I None 0 0 None 0 0 None 0 0 2.87467E-06 0 0
D/E 22438 Fn3-50 85 rs911744113 0.1184 None 0.011 N 0.203 0.077 0.0806252709748 gnomAD-4.0.0 3.18504E-06 None None None None I None 0 2.28718E-05 None 0 0 None 0 0 2.86028E-06 0 0
D/N 22438 Fn3-50 85 rs755558410 0.1601 -0.61 0.892 N 0.628 0.275 0.33440975612 gnomAD-2.1.1 8.06E-06 None None None None I None 0 0 None 0 0 None 6.54E-05 None 0 0 0
D/N 22438 Fn3-50 85 rs755558410 0.1601 -0.61 0.892 N 0.628 0.275 0.33440975612 gnomAD-4.0.0 1.36887E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.31932E-05 0
D/Y 22438 Fn3-50 85 None 0.2595 None 0.994 N 0.726 0.468 0.333651784274 gnomAD-4.0.0 6.84436E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99669E-07 0 0
T/I 22533 Fn3-51 83 rs2047233269 0.0793 None 0.939 N 0.533 0.286 0.350524144436 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 22828 Fn3-53 86 None 0.2189 None 0.999 N 0.741 0.255 0.280987212366 gnomAD-4.0.0 1.59267E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86062E-06 0 0
E/Q 23124 Fn3-55 85 None 0.175 None 0.904 N 0.623 0.218 0.314716216878 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
P/L 23224 Fn3-56 86 rs762758398 0.0776 -0.318 0.007 N 0.419 0.209 0.429203605099 gnomAD-2.1.1 8.06E-06 None None None None I None 0 2.9E-05 None 0 5.58E-05 None 0 None 0 0 0
P/L 23224 Fn3-56 86 rs762758398 0.0776 -0.318 0.007 N 0.419 0.209 0.429203605099 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
P/L 23224 Fn3-56 86 rs762758398 0.0776 -0.318 0.007 N 0.419 0.209 0.429203605099 gnomAD-4.0.0 3.0989E-06 None None None None I None 0 3.33378E-05 None 0 0 None 0 0 2.54313E-06 0 0
E/K 23326 Fn3-57 87 None 0.2125 None 0.958 D 0.667 0.293 0.332133492242 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/K 23519 Fn3-58 85 rs1267057579 0.2745 0.57 0.822 N 0.637 0.245 0.371344866733 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
E/K 23519 Fn3-58 85 rs1267057579 0.2745 0.57 0.822 N 0.637 0.245 0.371344866733 gnomAD-4.0.0 2.05277E-06 None None None None I None 0 0 None 0 2.51978E-05 None 0 0 1.7991E-06 0 0
A/T 23615 Fn3-59 84 rs574614034 0.0769 -0.858 0.491 N 0.363 0.186 0.20549828249 gnomAD-2.1.1 7.16E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
A/T 23615 Fn3-59 84 rs574614034 0.0769 -0.858 0.491 N 0.363 0.186 0.20549828249 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
A/T 23615 Fn3-59 84 rs574614034 0.0769 -0.858 0.491 N 0.363 0.186 0.20549828249 gnomAD-4.0.0 2.47953E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54326E-06 1.09827E-05 0
A/V 23615 Fn3-59 84 None 0.0888 None 0.166 N 0.372 0.097 0.283761946502 gnomAD-4.0.0 2.40068E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62504E-06 0 0
P/S 23811 Fn3-60 86 None 0.1713 None 1.0 N 0.795 0.436 0.385578977469 gnomAD-4.0.0 1.36878E-06 None None None None N None 2.98918E-05 0 None 0 0 None 0 0 0 1.16025E-05 0
K/E 23911 Fn3-61 86 rs763131148 0.3999 0.441 0.977 N 0.627 0.281 0.317667799068 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
K/E 23911 Fn3-61 86 rs763131148 0.3999 0.441 0.977 N 0.627 0.281 0.317667799068 gnomAD-3.1.2 3.29E-05 None None None None I None 0 0 0 0 0 None 0 0 7.35E-05 0 0
K/E 23911 Fn3-61 86 rs763131148 0.3999 0.441 0.977 N 0.627 0.281 0.317667799068 gnomAD-4.0.0 3.03697E-05 None None None None I None 0 0 None 0 0 None 0 0 3.98429E-05 0 3.20277E-05
K/Q 23911 Fn3-61 86 None 0.2169 None 0.993 N 0.726 0.306 0.229924730088 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/Q 23911 Fn3-61 86 None 0.2169 None 0.993 N 0.726 0.306 0.229924730088 gnomAD-4.0.0 6.57307E-06 None None None None I None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
K/R 23911 Fn3-61 86 rs570788965 0.1004 0.005 0.235 N 0.327 0.149 0.21737058555 gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 3.86847E-04 None 0 0 0 0 0
K/R 23911 Fn3-61 86 rs570788965 0.1004 0.005 0.235 N 0.327 0.149 0.21737058555 1000 genomes 3.99361E-04 None None None None I None 0 0 None None 2E-03 0 None None None 0 None
K/R 23911 Fn3-61 86 rs570788965 0.1004 0.005 0.235 N 0.327 0.149 0.21737058555 gnomAD-4.0.0 3.84378E-06 None None None None I None 0 0 None 0 7.27979E-05 None 0 0 0 0 0
P/Q 24010 Fn3-62 87 None 0.0773 None 0.003 N 0.215 0.116 0.255777322467 gnomAD-4.0.0 6.84288E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65667E-05
P/T 24010 Fn3-62 87 None 0.0837 None 0.183 N 0.428 0.085 0.242825505644 gnomAD-4.0.0 6.84281E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65667E-05
A/T 24307 Fn3-64 86 rs774999975 0.069 -0.7 0.003 N 0.307 0.06 0.15556083564 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
A/T 24307 Fn3-64 86 rs774999975 0.069 -0.7 0.003 N 0.307 0.06 0.15556083564 gnomAD-4.0.0 6.57454E-06 None None None None I None 0 0 None 0 0 None 0 0 1.4705E-05 0 0
E/Q 24409 Fn3-65 87 rs762601217 0.288 -0.413 1.0 N 0.658 0.323 0.265929055128 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.63E-05 None 0 None 0 0 0
E/Q 24409 Fn3-65 87 rs762601217 0.288 -0.413 1.0 N 0.658 0.323 0.265929055128 gnomAD-4.0.0 1.59221E-06 None None None None I None 0 0 None 0 2.78396E-05 None 0 0 0 0 0
E/K 25092 Fn3-70 87 rs397517700 0.0849 0.332 0.016 N 0.162 0.159 None gnomAD-2.1.1 1.79E-05 None None None None N None 1.65317E-04 0 None 0 0 None 0 None 0 0 1.4041E-04
E/K 25092 Fn3-70 87 rs397517700 0.0849 0.332 0.016 N 0.162 0.159 None gnomAD-3.1.2 2.63E-05 None None None None N None 9.65E-05 0 0 0 0 None 0 0 0 0 0
E/K 25092 Fn3-70 87 rs397517700 0.0849 0.332 0.016 N 0.162 0.159 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
E/K 25092 Fn3-70 87 rs397517700 0.0849 0.332 0.016 N 0.162 0.159 None gnomAD-4.0.0 6.81722E-06 None None None None N None 1.19987E-04 0 None 0 0 None 0 0 0 0 3.20184E-05
E/G 25289 Fn3-71 86 None 0.4365 None 0.988 N 0.675 0.352 0.367425347029 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/D 25389 Fn3-72 86 rs371435213 0.0957 -0.039 0.447 N 0.431 0.115 0.297031009988 gnomAD-2.1.1 4.05E-06 None None None None I None 6.47E-05 0 None 0 0 None 0 None 0 0 0
E/D 25389 Fn3-72 86 rs371435213 0.0957 -0.039 0.447 N 0.431 0.115 0.297031009988 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
E/D 25389 Fn3-72 86 rs371435213 0.0957 -0.039 0.447 N 0.431 0.115 0.297031009988 gnomAD-4.0.0 6.57834E-06 None None None None I None 2.41359E-05 0 None 0 0 None 0 0 0 0 0
E/G 25389 Fn3-72 86 None 0.1225 None 0.491 N 0.464 0.209 0.303453137403 gnomAD-4.0.0 1.59487E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86535E-06 0 0
E/K 25389 Fn3-72 86 None 0.0859 None 0.005 N 0.151 0.113 0.229924730088 gnomAD-4.0.0 1.59537E-06 None None None None I None 0 0 None 0 0 None 0 0 2.8662E-06 0 0
L/F 25685 Fn3-74 85 rs1707149968 0.1344 None 0.755 N 0.64 0.216 0.513958542087 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.79386E-04
L/F 25685 Fn3-74 85 rs1707149968 0.1344 None 0.755 N 0.64 0.216 0.513958542087 gnomAD-4.0.0 2.47948E-06 None None None None I None 2.67101E-05 0 None 0 0 None 0 0 0 0 3.20359E-05
D/H 25781 Fn3-75 84 None 0.4866 None 1.0 N 0.634 0.418 0.322786055943 gnomAD-4.0.0 5.47656E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29856E-06 0 1.6575E-05
D/N 25781 Fn3-75 84 None 0.1704 None 1.0 N 0.634 0.338 0.294561560033 gnomAD-4.0.0 2.05371E-06 None None None None N None 0 0 None 0 2.52576E-05 None 0 0 8.99794E-07 0 1.6575E-05
D/V 25781 Fn3-75 84 rs1338611870 0.2479 0.19 1.0 N 0.692 0.568 0.630778293416 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.95E-06 0
D/V 25781 Fn3-75 84 rs1338611870 0.2479 0.19 1.0 N 0.692 0.568 0.630778293416 gnomAD-4.0.0 1.59291E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8608E-06 0 0
K/I 26075 Fn3-77 86 rs776380915 0.5149 0.521 0.991 N 0.729 0.419 0.482646159919 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
K/I 26075 Fn3-77 86 rs776380915 0.5149 0.521 0.991 N 0.729 0.419 0.482646159919 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/I 26075 Fn3-77 86 rs776380915 0.5149 0.521 0.991 N 0.729 0.419 0.482646159919 gnomAD-4.0.0 6.57592E-06 None None None None I None 2.41348E-05 0 None 0 0 None 0 0 0 0 0
K/E 26174 Fn3-78 87 rs1157744481 0.139 None 0.046 N 0.368 0.205 0.171388866994 gnomAD-4.0.0 3.19164E-06 None None None None I None 5.66829E-05 0 None 0 2.78118E-05 None 0 0 0 0 0
E/G 26471 Fn3-80 86 None 0.1561 None 0.92 N 0.509 0.341 0.363158594168 gnomAD-4.0.0 1.59201E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02572E-05
E/K 26471 Fn3-80 86 None 0.1181 None 0.704 D 0.441 0.204 0.264547087235 gnomAD-4.0.0 3.60099E-06 None None None None I None 0 0 None 0 0 None 0 0 3.93751E-06 0 0
E/G 26573 Fn3-81 87 None 0.4789 None 0.988 N 0.743 0.515 0.524741657026 gnomAD-4.0.0 6.84334E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99533E-07 0 0
V/I 26767 Fn3-82 85 rs1559345492 0.065 None 0.166 N 0.415 0.066 0.369495900351 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
V/I 26767 Fn3-82 85 rs1559345492 0.065 None 0.166 N 0.415 0.066 0.369495900351 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/I 26767 Fn3-82 85 rs1559345492 0.065 None 0.166 N 0.415 0.066 0.369495900351 gnomAD-4.0.0 1.8593E-06 None None None None I None 0 0 None 0 0 None 0 0 2.5431E-06 0 0
V/L 26767 Fn3-82 85 None 0.0946 None 0.003 N 0.179 0.068 0.340273420219 gnomAD-4.0.0 6.84277E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15937E-05 0
D/E 26863 Fn3-83 84 rs1424768327 0.1665 -0.249 0.4 N 0.355 0.071 0.146414634003 gnomAD-2.1.1 6.37E-05 None None None None I None 2.29516E-04 0 None 0 0 None 0 None 0 0 0
D/E 26863 Fn3-83 84 rs1424768327 0.1665 -0.249 0.4 N 0.355 0.071 0.146414634003 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
D/E 26863 Fn3-83 84 rs1424768327 0.1665 -0.249 0.4 N 0.355 0.071 0.146414634003 gnomAD-4.0.0 1.31515E-05 None None None None I None 4.82625E-05 0 None 0 0 None 0 0 0 0 0
D/G 26863 Fn3-83 84 rs1340374023 0.3971 -0.633 0.998 N 0.721 0.471 0.297718772494 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
D/G 26863 Fn3-83 84 rs1340374023 0.3971 -0.633 0.998 N 0.721 0.471 0.297718772494 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/G 26863 Fn3-83 84 rs1340374023 0.3971 -0.633 0.998 N 0.721 0.471 0.297718772494 gnomAD-4.0.0 2.56293E-06 None None None None I None 3.38352E-05 0 None 0 0 None 0 0 0 0 0
D/N 26863 Fn3-83 84 rs776528193 0.1773 -0.154 1.0 N 0.733 0.324 0.335164054921 gnomAD-2.1.1 2.01E-05 None None None None I None 0 0 None 0 0 None 9.81E-05 None 0 1.77E-05 0
D/N 26863 Fn3-83 84 rs776528193 0.1773 -0.154 1.0 N 0.733 0.324 0.335164054921 gnomAD-4.0.0 8.21162E-06 None None None None I None 0 0 None 0 0 None 0 1.73732E-04 7.19657E-06 3.47907E-05 0
A/D 27057 Fn3-84 86 rs1705146813 0.1752 None 0.007 N 0.488 0.048 0.257786959452 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.30993E-04 0 0 0 None 0 0 0 0 0
A/D 27057 Fn3-84 86 rs1705146813 0.1752 None 0.007 N 0.488 0.048 0.257786959452 gnomAD-4.0.0 1.31494E-05 None None None None N None 0 1.30993E-04 None 0 0 None 0 0 0 0 0
A/T 27057 Fn3-84 86 None 0.0709 None None N 0.069 0.095 0.0482279557977 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/N 27157 Fn3-85 86 None 0.7161 None 0.007 N 0.246 0.077 0.0986583533028 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/G 27256 Fn3-86 87 rs748963818 0.1439 -0.812 0.521 N 0.554 0.207 0.376393476264 gnomAD-2.1.1 4.43E-05 None None None None N None 0 0 None 0 0 None 3.59477E-04 None 0 0 0
E/G 27256 Fn3-86 87 rs748963818 0.1439 -0.812 0.521 N 0.554 0.207 0.376393476264 gnomAD-4.0.0 1.09481E-05 None None None None N None 0 0 None 0 0 None 0 0 8.99484E-07 1.73897E-04 0
E/K 27454 Fn3-87 86 rs1704595513 0.2978 None 0.581 N 0.629 0.309 0.293502639404 gnomAD-4.0.0 1.59137E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85851E-06 0 0
E/K 27554 Fn3-88 86 None 0.0951 None 0.012 N 0.11 0.14 0.229264304666 gnomAD-4.0.0 1.36848E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79898E-06 0 0
E/Q 27554 Fn3-88 86 None 0.1017 None 0.028 N 0.228 0.089 0.158396225186 gnomAD-4.0.0 6.8424E-07 None None None None I None 2.98793E-05 0 None 0 0 None 0 0 0 0 0
E/G 27656 Fn3-89 87 None 0.4164 None 0.988 N 0.647 0.507 0.449669948863 gnomAD-4.0.0 1.59139E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85869E-06 0 0
E/K 27656 Fn3-89 87 rs1001344341 0.3136 None 0.067 N 0.342 0.211 None gnomAD-4.0.0 2.05272E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69853E-06 0 0
D/N 27946 Fn3-91 84 rs1360228493 0.1575 None 1.0 N 0.628 0.39 0.368369118721 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85802E-04 None 0 0 0 0 0
D/N 27946 Fn3-91 84 rs1360228493 0.1575 None 1.0 N 0.628 0.39 0.368369118721 gnomAD-4.0.0 3.84475E-06 None None None None N None 0 0 None 0 4.85555E-05 None 0 0 2.39367E-06 0 0
K/I 28239 Fn3-93 86 None 0.5887 None 0.939 N 0.547 0.354 0.489449420884 gnomAD-4.0.0 1.36842E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79892E-06 0 0
K/R 28239 Fn3-93 86 None 0.1012 None 0.684 N 0.581 0.132 0.28798054836 gnomAD-4.0.0 6.84211E-07 None None None None I None 0 0 None 0 0 None 0 0 8.9946E-07 0 0
E/D 28338 Fn3-94 87 None 0.1161 None 0.801 N 0.327 0.137 0.187945064343 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85798E-06 0 0
E/D 28535 Fn3-95 86 None 0.1221 None 0.979 N 0.474 0.196 0.324161360171 gnomAD-4.0.0 6.84478E-07 None None None None N None 0 0 None 0 0 None 1.87695E-05 0 0 0 0
E/K 28535 Fn3-95 86 rs538803059 0.1587 -0.009 0.958 N 0.546 0.287 None gnomAD-2.1.1 8.08E-06 None None None None N None 6.47E-05 0 None 0 0 None 3.28E-05 None 0 0 0
E/K 28535 Fn3-95 86 rs538803059 0.1587 -0.009 0.958 N 0.546 0.287 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
E/K 28535 Fn3-95 86 rs538803059 0.1587 -0.009 0.958 N 0.546 0.287 None gnomAD-4.0.0 2.56405E-06 None None None None N None 1.69182E-05 0 None 0 0 None 0 0 0 1.34088E-05 0
E/Q 28535 Fn3-95 86 None 0.155 None 0.994 N 0.682 0.316 0.29527378943 gnomAD-4.0.0 1.59256E-06 None None None None N None 0 0 None 0 2.78211E-05 None 0 0 0 0 0
L/I 28635 Fn3-96 86 rs2154158514 0.0846 None 0.801 N 0.501 0.126 0.422762650823 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
L/I 28635 Fn3-96 86 rs2154158514 0.0846 None 0.801 N 0.501 0.126 0.422762650823 gnomAD-4.0.0 6.56823E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47016E-05 0 0
D/E 28735 Fn3-97 85 None 0.1129 None 0.006 N 0.099 0.038 0.0806252709748 gnomAD-4.0.0 6.84249E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99476E-07 0 0
D/N 28735 Fn3-97 85 rs1703015531 0.1559 None 0.822 N 0.574 0.217 0.215109475489 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/N 28735 Fn3-97 85 rs1703015531 0.1559 None 0.822 N 0.574 0.217 0.215109475489 gnomAD-4.0.0 6.57108E-06 None None None None I None 2.4122E-05 0 None 0 0 None 0 0 0 0 0
I/K 28929 Fn3-98 85 rs778373815 0.181 None 0.014 N 0.413 0.06 0.216624796971 gnomAD-4.0.0 1.20035E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31253E-06 0 0
I/V 28929 Fn3-98 85 None 0.0559 None None N 0.108 0.054 0.132336055621 gnomAD-4.0.0 1.32036E-05 None None None None N None 0 0 None 0 0 None 0 0 1.44376E-05 0 0
D/H 29025 Fn3-99 84 rs1702323691 0.3113 None 1.0 N 0.705 0.368 0.307648195649 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/H 29025 Fn3-99 84 rs1702323691 0.3113 None 1.0 N 0.705 0.368 0.307648195649 gnomAD-4.0.0 2.56268E-06 None None None None I None 3.38238E-05 0 None 0 0 None 0 0 0 0 0
D/H 29222 Fn3-100 86 rs1421442862 0.3905 -0.808 1.0 N 0.641 0.297 0.245101548738 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.64E-05 0 0
D/H 29222 Fn3-100 86 rs1421442862 0.3905 -0.808 1.0 N 0.641 0.297 0.245101548738 gnomAD-4.0.0 1.59104E-06 None None None None N None 0 0 None 0 0 None 1.88232E-05 0 0 0 0
N/H 29421 Fn3-102 87 None 0.1184 None 0.999 N 0.549 0.262 0.273938319068 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/K 29618 Fn3-103 86 rs879222602 0.1235 -0.058 0.426 N 0.493 0.23 None gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.99E-06 0
E/K 29618 Fn3-103 86 rs879222602 0.1235 -0.058 0.426 N 0.493 0.23 None gnomAD-4.0.0 1.98497E-05 None None None None N None 2.98757E-05 0 None 0 2.52985E-05 None 0 0 2.33889E-05 0 1.65793E-05
P/A 29718 Fn3-104 86 rs765594600 0.0965 -1.442 0.998 N 0.678 0.317 0.297718772494 gnomAD-2.1.1 4.08E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.95E-06 0
P/A 29718 Fn3-104 86 rs765594600 0.0965 -1.442 0.998 N 0.678 0.317 0.297718772494 gnomAD-4.0.0 1.44141E-05 None None None None I None 0 0 None 0 0 None 0 0 1.8904E-05 0 0
P/R 29718 Fn3-104 86 None 0.2289 None 0.999 N 0.796 0.36 0.525102498511 gnomAD-4.0.0 3.20749E-06 None None None None I None 0 0 None 0 0 None 0 0 5.73207E-06 0 0
P/S 29718 Fn3-104 86 rs765594600 0.1633 None 0.996 N 0.688 0.312 0.319686207203 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
P/S 29718 Fn3-104 86 rs765594600 0.1633 None 0.996 N 0.688 0.312 0.319686207203 gnomAD-4.0.0 6.57117E-06 None None None None I None 0 0 None 0 0 None 0 0 1.46972E-05 0 0
E/K 29820 Fn3-105 87 rs1700193837 0.1232 None 0.984 N 0.535 0.299 0.417334834585 gnomAD-4.0.0 2.0528E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69858E-06 0 0
E/D 30017 Fn3-106 85 rs558277631 0.1467 -0.397 0.054 N 0.171 0.129 0.0846915920261 gnomAD-2.1.1 1.21E-05 None None None None I None 0 0 None 0 1.67579E-04 None 0 None 0 0 0
E/D 30017 Fn3-106 85 rs558277631 0.1467 -0.397 0.054 N 0.171 0.129 0.0846915920261 gnomAD-3.1.2 2.63E-05 None None None None I None 0 0 0 0 7.70119E-04 None 0 0 0 0 0
E/D 30017 Fn3-106 85 rs558277631 0.1467 -0.397 0.054 N 0.171 0.129 0.0846915920261 1000 genomes 3.99361E-04 None None None None I None 0 0 None None 2E-03 0 None None None 0 None
E/D 30017 Fn3-106 85 rs558277631 0.1467 -0.397 0.054 N 0.171 0.129 0.0846915920261 gnomAD-4.0.0 4.95723E-06 None None None None I None 0 0 None 0 1.78412E-04 None 0 0 0 0 0
E/K 30017 Fn3-106 85 rs1559211738 0.2517 None 0.978 N 0.606 0.32 0.356897458496 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
E/K 30017 Fn3-106 85 rs1559211738 0.2517 None 0.978 N 0.606 0.32 0.356897458496 gnomAD-4.0.0 1.5913E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85807E-06 0 0
D/G 30113 Fn3-107 84 rs1699857670 0.2589 None 1.0 N 0.727 0.392 0.288727942641 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
D/G 30113 Fn3-107 84 rs1699857670 0.2589 None 1.0 N 0.727 0.392 0.288727942641 gnomAD-4.0.0 6.57246E-06 None None None None I None 2.41255E-05 0 None 0 0 None 0 0 0 0 0
D/N 30113 Fn3-107 84 rs1186226559 0.1206 None 1.0 N 0.695 0.317 0.294918367191 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/N 30113 Fn3-107 84 rs1186226559 0.1206 None 1.0 N 0.695 0.317 0.294918367191 gnomAD-4.0.0 4.05979E-06 None None None None I None 0 0 None 0 0 None 0 0 4.81978E-06 0 0
Q/K 30309 Fn3-108 86 rs990620732 0.0866 None 0.003 N 0.184 0.069 0.0551355673512 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
Q/K 30309 Fn3-108 86 rs990620732 0.0866 None 0.003 N 0.184 0.069 0.0551355673512 gnomAD-4.0.0 6.57704E-06 None None None None N None 2.41453E-05 0 None 0 0 None 0 0 0 0 0
P/L 30507 Fn3-110 86 rs774107448 0.1405 -0.707 1.0 N 0.83 0.396 0.683250482097 gnomAD-2.1.1 2.02E-05 None None None None N None 0 5.82E-05 None 0 0 None 0 None 0 2.67E-05 0
P/L 30507 Fn3-110 86 rs774107448 0.1405 -0.707 1.0 N 0.83 0.396 0.683250482097 gnomAD-3.1.2 1.32E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 4.78927E-04
P/L 30507 Fn3-110 86 rs774107448 0.1405 -0.707 1.0 N 0.83 0.396 0.683250482097 gnomAD-4.0.0 1.61183E-05 None None None None N None 8.0156E-05 6.67245E-05 None 0 0 None 0 1.64528E-04 1.18687E-05 0 1.60195E-05
P/T 30507 Fn3-110 86 None 0.1944 None 1.0 N 0.822 0.38 0.455909487837 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
R/G 30704 Fn3-111 86 rs1170214077 0.297 -0.474 0.669 N 0.563 0.186 0.378847511475 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.66058E-04
R/G 30704 Fn3-111 86 rs1170214077 0.297 -0.474 0.669 N 0.563 0.186 0.378847511475 gnomAD-4.0.0 6.84263E-07 None None None None I None 0 2.23614E-05 None 0 0 None 0 0 0 0 0
R/W 30704 Fn3-111 86 None 0.1783 None 0.997 N 0.679 0.37 0.403752378121 gnomAD-4.0.0 2.73705E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59817E-06 0 0
P/S 30805 Fn3-112 87 rs1698365968 0.1636 None 0.698 N 0.691 0.291 0.272639205421 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
P/S 30805 Fn3-112 87 rs1698365968 0.1636 None 0.698 N 0.691 0.291 0.272639205421 gnomAD-4.0.0 6.57289E-06 None None None None I None 0 0 None 0 0 None 0 0 1.46985E-05 0 0
D/E 30906 Fn3-113 86 rs749379446 0.0729 0.103 0.001 N 0.233 0.079 0.0986583533028 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
D/E 30906 Fn3-113 86 rs749379446 0.0729 0.103 0.001 N 0.233 0.079 0.0986583533028 gnomAD-4.0.0 1.36837E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79886E-06 0 0
D/G 30906 Fn3-113 86 None 0.1254 None 0.334 N 0.621 0.304 0.198526703765 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
D/N 30906 Fn3-113 86 rs534881266 0.0835 0.583 0.739 N 0.63 0.223 None gnomAD-2.1.1 5E-05 None None None None I None 0 8.48E-05 None 0 3.07692E-04 None 0 None 0 2.34E-05 2.80741E-04
D/N 30906 Fn3-113 86 rs534881266 0.0835 0.583 0.739 N 0.63 0.223 None gnomAD-3.1.2 3.94E-05 None None None None I None 2.41E-05 6.55E-05 0 0 1.93125E-04 None 0 0 2.94E-05 2.07125E-04 0
D/N 30906 Fn3-113 86 rs534881266 0.0835 0.583 0.739 N 0.63 0.223 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 0 None None None 1E-03 None
D/N 30906 Fn3-113 86 rs534881266 0.0835 0.583 0.739 N 0.63 0.223 None gnomAD-4.0.0 4.15152E-05 None None None None I None 1.33255E-05 8.33167E-05 None 0 4.45911E-05 None 0 0 4.74643E-05 1.09796E-05 3.20113E-05
E/K 31100 Fn3-114 85 None 0.2509 None 0.999 N 0.677 0.384 0.351830644314 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
V/A 31792 Fn3-119 85 None 0.1381 None 0.998 N 0.545 0.246 0.516659694907 gnomAD-4.0.0 6.84225E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99496E-07 0 0
V/G 31792 Fn3-119 85 rs767359045 0.1794 -1.386 1.0 N 0.799 0.505 0.735492212333 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
V/G 31792 Fn3-119 85 rs767359045 0.1794 -1.386 1.0 N 0.799 0.505 0.735492212333 gnomAD-4.0.0 1.36845E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79899E-06 0 0
V/M 31792 Fn3-119 85 rs994348588 0.1133 -0.49 0.999 N 0.737 0.176 0.476598743245 gnomAD-2.1.1 8.05E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 8.9E-06 0
V/M 31792 Fn3-119 85 rs994348588 0.1133 -0.49 0.999 N 0.737 0.176 0.476598743245 gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
V/M 31792 Fn3-119 85 rs994348588 0.1133 -0.49 0.999 N 0.737 0.176 0.476598743245 gnomAD-4.0.0 5.57713E-06 None None None None N None 5.33917E-05 1.66672E-05 None 0 0 None 0 0 3.39044E-06 0 0
E/K 31893 Fn3-120 87 rs1241275942 0.1141 0.531 0.704 N 0.484 0.222 0.353974658523 gnomAD-2.1.1 4.07E-06 None None None None I None 0 0 None 0 0 None 0 None 0 9.02E-06 0
E/K 31893 Fn3-120 87 rs1241275942 0.1141 0.531 0.704 N 0.484 0.222 0.353974658523 gnomAD-4.0.0 3.23073E-06 None None None None I None 0 0 None 0 2.78987E-05 None 0 0 2.91688E-06 0 0
E/K 31995 Fn3-121 87 rs776682000 0.1678 0.549 0.739 N 0.673 0.285 0.305086939656 gnomAD-2.1.1 2.01E-05 None None None None I None 0 0 None 0 0 None 9.81E-05 None 0 1.78E-05 0
E/K 31995 Fn3-121 87 rs776682000 0.1678 0.549 0.739 N 0.673 0.285 0.305086939656 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
E/K 31995 Fn3-121 87 rs776682000 0.1678 0.549 0.739 N 0.673 0.285 0.305086939656 gnomAD-4.0.0 1.67326E-05 None None None None I None 0 0 None 0 0 None 0 0 1.35622E-05 1.09789E-04 1.60128E-05
E/V 32189 Fn3-122 85 rs1002475776 0.3159 None 1.0 N 0.773 0.513 0.448891444097 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/V 32189 Fn3-122 85 rs1002475776 0.3159 None 1.0 N 0.773 0.513 0.448891444097 gnomAD-4.0.0 8.05583E-06 None None None None I None 0 0 None 0 0 None 0 0 1.10187E-05 0 0
E/K 32287 Fn3-123 86 None 0.208 None 0.999 N 0.682 0.4 0.355865052028 gnomAD-4.0.0 1.60118E-06 None None None None I None 0 0 None 0 0 None 0 0 2.88309E-06 0 0
S/C 32484 Fn3-124 86 None 0.1393 None 1.0 N 0.697 0.358 0.294561560033 gnomAD-4.0.0 1.3699E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.32807E-05 0
S/F 32484 Fn3-124 86 rs1462608160 0.2988 None 0.994 N 0.705 0.317 0.442977140156 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
S/F 32484 Fn3-124 86 rs1462608160 0.2988 None 0.994 N 0.705 0.317 0.442977140156 gnomAD-4.0.0 1.24063E-06 None None None None I None 0 0 None 0 0 None 0 0 1.69617E-06 0 0
E/G 32685 Fn3-126 86 rs762387276 0.2559 -0.162 1.0 N 0.706 0.533 0.499921029546 gnomAD-2.1.1 2.43E-05 None None None None I None 0 0 None 0 2.22643E-04 None 0 None 4.69E-05 8.93E-06 0
E/G 32685 Fn3-126 86 rs762387276 0.2559 -0.162 1.0 N 0.706 0.533 0.499921029546 gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 3.85356E-04 None 9.42E-05 0 0 0 0
E/G 32685 Fn3-126 86 rs762387276 0.2559 -0.162 1.0 N 0.706 0.533 0.499921029546 gnomAD-4.0.0 1.67248E-05 None None None None I None 0 0 None 0 1.69903E-04 None 9.4307E-05 0 0 0 0
E/K 32685 Fn3-126 86 None 0.1583 None 0.999 N 0.69 0.376 0.381071309025 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 32880 Fn3-127 86 None 0.0857 None 0.006 N 0.211 0.044 0.171388866994 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/Q 32982 Fn3-128 87 None 0.2541 None 1.0 N 0.687 0.297 0.317958651998 gnomAD-4.0.0 1.59312E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43345E-05 0
D/E 33376 Fn3-130 87 rs1691887188 0.1212 None None N 0.161 0.04 0.0297737177859 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.78927E-04
D/E 33376 Fn3-130 87 rs1691887188 0.1212 None None N 0.161 0.04 0.0297737177859 gnomAD-4.0.0 6.84438E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16074E-05 0
D/H 33376 Fn3-130 87 None 0.3576 None 0.295 N 0.494 0.137 0.177238962908 gnomAD-4.0.0 6.84445E-07 None None None None I None 2.98954E-05 0 None 0 0 None 0 0 0 0 0
D/N 33376 Fn3-130 87 None 0.1304 None None N 0.185 0.103 0.158396225186 gnomAD-4.0.0 6.84445E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65722E-05
D/Y 33376 Fn3-130 87 None 0.3339 None 0.56 N 0.455 0.22 0.495038369364 gnomAD-4.0.0 6.84445E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16082E-05 0
E/Q 33477 Fn3-131 86 rs794729556 0.197 None 0.997 N 0.669 0.227 0.273070737957 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
E/Q 33477 Fn3-131 86 rs794729556 0.197 None 0.997 N 0.669 0.227 0.273070737957 gnomAD-4.0.0 6.57022E-06 None None None None I None 2.41196E-05 0 None 0 0 None 0 0 0 0 0
K/E 33772 Fn3-132 84 rs1362410602 0.1555 None 0.028 N 0.409 0.151 0.193865811164 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
K/E 33772 Fn3-132 84 rs1362410602 0.1555 None 0.028 N 0.409 0.151 0.193865811164 gnomAD-4.0.0 2.56176E-06 None None None None N None 0 0 None 0 0 None 0 0 2.39262E-06 1.33994E-05 0
K/N 33772 Fn3-132 84 rs1255240121 0.3247 None 0.315 N 0.459 0.107 0.156986980423 gnomAD-4.0.0 3.18225E-06 None None None None N None 0 0 None 0 5.54508E-05 None 0 0 0 0 0

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