Structural position:

  • Domain Type: Fn3
  • Aligned Position: 27
  • 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
P/R 15681 Fn3-1 25 None 0.9914 None 1.0 D 0.879 0.651 0.601974941769 gnomAD-4.0.0 1.59397E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03141E-05
P/S 15681 Fn3-1 25 rs768557263 0.9679 -2.66 1.0 D 0.823 0.524 0.457013227636 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/S 15681 Fn3-1 25 rs768557263 0.9679 -2.66 1.0 D 0.823 0.524 0.457013227636 gnomAD-4.0.0 1.59396E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
P/T 15681 Fn3-1 25 None 0.9575 None 1.0 D 0.823 0.601 0.538974603628 gnomAD-4.0.0 1.59396E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86254E-06 0 0
P/S 15782 Fn3-2 25 rs749192459 0.9464 -2.463 1.0 D 0.865 0.623 0.555198480781 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.57E-05 0
P/S 15782 Fn3-2 25 rs749192459 0.9464 -2.463 1.0 D 0.865 0.623 0.555198480781 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.58E-05 0 0 0 None 0 0 1.47E-05 0 0
P/S 15782 Fn3-2 25 rs749192459 0.9464 -2.463 1.0 D 0.865 0.623 0.555198480781 gnomAD-4.0.0 9.30304E-06 None None None None N None 0 1.67101E-05 None 0 0 None 0 0 1.18734E-05 0 0
P/T 15782 Fn3-2 25 rs749192459 0.9311 None 1.0 D 0.861 0.699 0.633965432156 gnomAD-3.1.2 6.59E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
P/T 15782 Fn3-2 25 rs749192459 0.9311 None 1.0 D 0.861 0.699 0.633965432156 gnomAD-4.0.0 1.24041E-06 None None None None N None 1.33672E-05 0 None 0 0 None 0 0 8.48103E-07 0 0
P/H 15883 Fn3-3 25 None 0.9882 None 1.0 D 0.882 0.624 0.591878746342 gnomAD-4.0.0 6.92158E-07 None None None None N None 0 0 None 0 2.55245E-05 None 0 0 0 0 0
P/H 16079 Fn3-4 25 None 0.98 None 1.0 D 0.859 0.638 0.610832418033 gnomAD-4.0.0 6.84724E-07 None None None None N None 0 2.23894E-05 None 0 0 None 0 0 0 0 0
P/R 16079 Fn3-4 25 None 0.981 None 1.0 D 0.875 0.662 0.600262279454 gnomAD-4.0.0 6.84724E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00009E-07 0 0
P/S 16079 Fn3-4 25 rs760271431 0.794 -2.296 1.0 D 0.825 0.51 0.472741223727 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
P/S 16079 Fn3-4 25 rs760271431 0.794 -2.296 1.0 D 0.825 0.51 0.472741223727 gnomAD-4.0.0 4.78197E-06 None None None None N None 0 0 None 0 0 None 0 0 8.59102E-06 0 0
P/L 16375 Fn3-6 25 None 0.991 None 1.0 D 0.885 0.6 0.841995927497 gnomAD-4.0.0 2.73838E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59917E-06 0 0
P/Q 16375 Fn3-6 25 rs1256813746 0.9987 None 1.0 D 0.812 0.627 0.73734657789 gnomAD-4.0.0 2.05378E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69938E-06 0 0
P/R 16375 Fn3-6 25 rs1256813746 0.9982 -1.25 1.0 D 0.87 0.617 0.742486130394 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.63E-05 None 0 None 0 0 0
P/R 16375 Fn3-6 25 rs1256813746 0.9982 -1.25 1.0 D 0.87 0.617 0.742486130394 gnomAD-4.0.0 6.84594E-07 None None None None N None 0 0 None 0 2.53075E-05 None 0 0 0 0 0
P/S 16375 Fn3-6 25 rs1424436024 0.9939 -2.254 1.0 D 0.833 0.525 0.482209950775 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
P/L 16474 Fn3-7 25 rs750487328 0.9897 -0.682 1.0 D 0.901 0.599 0.899019198802 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
P/L 16474 Fn3-7 25 rs750487328 0.9897 -0.682 1.0 D 0.901 0.599 0.899019198802 gnomAD-4.0.0 6.84901E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00067E-07 0 0
P/R 16474 Fn3-7 25 None 0.9967 None 1.0 D 0.894 0.598 0.844308500322 gnomAD-4.0.0 2.0547E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.32574E-05 1.65843E-05
P/S 16474 Fn3-7 25 rs763053848 0.9934 -2.16 1.0 D 0.869 0.534 0.616015083648 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 0 0
P/S 16474 Fn3-7 25 rs763053848 0.9934 -2.16 1.0 D 0.869 0.534 0.616015083648 gnomAD-4.0.0 5.47929E-06 None None None None N None 0 0 None 0 0 None 0 0 0 9.30189E-05 0
P/T 16474 Fn3-7 25 rs763053848 0.9876 -2.019 1.0 D 0.868 0.559 0.794095434645 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
P/T 16474 Fn3-7 25 rs763053848 0.9876 -2.019 1.0 D 0.868 0.559 0.794095434645 gnomAD-4.0.0 6.84911E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0008E-07 0 0
P/A 16575 Fn3-8 25 None 0.9076 None 1.0 D 0.817 0.68 0.393775345888 gnomAD-4.0.0 6.8461E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1598E-05 0
P/L 16575 Fn3-8 25 None 0.9819 None 1.0 D 0.9 0.724 0.794075965502 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
P/S 16575 Fn3-8 25 None 0.9863 None 1.0 D 0.841 0.62 0.364141725642 gnomAD-4.0.0 6.8461E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99831E-07 0 0
P/A 16775 Fn3-10 25 None 0.9461 None 1.0 D 0.817 0.457 0.473538153929 gnomAD-4.0.0 6.8507E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00145E-07 0 0
P/L 16775 Fn3-10 25 rs1331633157 0.9925 -0.643 1.0 D 0.894 0.489 0.695940529277 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.68011E-04
P/L 16775 Fn3-10 25 rs1331633157 0.9925 -0.643 1.0 D 0.894 0.489 0.695940529277 gnomAD-4.0.0 3.19195E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86505E-06 0 3.03435E-05
P/T 16775 Fn3-10 25 None 0.9922 None 1.0 D 0.843 0.464 0.52628473709 gnomAD-4.0.0 6.8507E-07 None None None None N None 0 0 None 0 2.54065E-05 None 0 0 0 0 0
P/A 17071 Fn3-12 25 None 0.8667 None 1.0 D 0.808 0.632 0.484691182572 gnomAD-4.0.0 2.73829E-06 None None None None N None 0 0 None 0 2.525E-05 None 0 0 2.6996E-06 0 0
P/L 17071 Fn3-12 25 None 0.9776 None 1.0 D 0.888 0.639 0.722483493429 gnomAD-4.0.0 1.59324E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4334E-05 0
P/L 17171 Fn3-13 25 rs770226870 0.9934 -0.768 1.0 D 0.893 0.685 0.910375148093 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
P/L 17171 Fn3-13 25 rs770226870 0.9934 -0.768 1.0 D 0.893 0.685 0.910375148093 gnomAD-4.0.0 3.18577E-06 None None None None N None 0 0 None 0 5.5534E-05 None 0 0 0 0 0
P/S 17171 Fn3-13 25 rs773302755 0.9928 -2.79 1.0 D 0.851 0.662 0.674262823506 gnomAD-2.1.1 1.21E-05 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 8.91E-06 0
P/S 17171 Fn3-13 25 rs773302755 0.9928 -2.79 1.0 D 0.851 0.662 0.674262823506 gnomAD-4.0.0 5.47608E-06 None None None None N None 0 6.71081E-05 None 0 0 None 0 0 4.49901E-06 0 0
P/L 17393 Fn3-14 25 rs1470469789 0.9836 None 1.0 D 0.89 0.706 0.723066985631 gnomAD-4.0.0 1.59431E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02902E-05
P/S 17393 Fn3-14 25 rs1481856511 0.9863 None 1.0 N 0.844 0.611 0.424194796918 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/S 17393 Fn3-14 25 rs1481856511 0.9863 None 1.0 N 0.844 0.611 0.424194796918 gnomAD-4.0.0 6.58198E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47236E-05 0 0
P/Q 17788 Fn3-17 25 rs1456305922 0.9979 -1.865 1.0 D 0.82 0.593 0.542587012665 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/Q 17788 Fn3-17 25 rs1456305922 0.9979 -1.865 1.0 D 0.82 0.593 0.542587012665 gnomAD-4.0.0 3.18626E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86714E-05 0
P/S 18089 Fn3-19 25 None 0.9858 None 1.0 N 0.837 0.642 0.367803931526 gnomAD-4.0.0 1.59408E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43439E-05 0
P/L 18603 Fn3-23 25 rs531760043 0.9832 -0.599 0.996 D 0.889 0.651 0.873394877099 gnomAD-2.1.1 2.09E-05 None None None None N None 0 0 None 0 0 None 3.49E-05 None 0 3.7E-05 0
P/L 18603 Fn3-23 25 rs531760043 0.9832 -0.599 0.996 D 0.889 0.651 0.873394877099 gnomAD-4.0.0 9.64776E-06 None None None None N None 0 2.2853E-05 None 0 0 None 0 0 9.94259E-06 2.36423E-05 0
P/S 18603 Fn3-23 25 None 0.9775 None 0.284 D 0.56 0.524 0.362361684037 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
P/H 18809 Fn3-24 26 None 0.9966 None 1.0 D 0.888 0.594 0.61690119055 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
P/S 18809 Fn3-24 26 None 0.979 None 1.0 N 0.863 0.489 0.45235992198 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/T 18809 Fn3-24 26 None 0.9739 None 1.0 N 0.859 0.543 0.546131560702 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
P/R 18908 Fn3-25 25 rs1364724756 0.9951 None 1.0 D 0.887 0.609 0.656961720716 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
P/R 18908 Fn3-25 25 rs1364724756 0.9951 None 1.0 D 0.887 0.609 0.656961720716 gnomAD-4.0.0 2.03044E-06 None None None None N None 1.74978E-05 0 None 0 0 None 0 0 1.20501E-06 0 0
P/L 19012 Fn3-26 25 rs777291480 0.9632 -0.234 1.0 D 0.901 0.535 0.820922146493 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
P/L 19012 Fn3-26 25 rs777291480 0.9632 -0.234 1.0 D 0.901 0.535 0.820922146493 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
P/L 19012 Fn3-26 25 rs777291480 0.9632 -0.234 1.0 D 0.901 0.535 0.820922146493 gnomAD-4.0.0 1.24346E-06 None None None None N None 1.34311E-05 0 None 0 2.24135E-05 None 0 0 0 0 0
P/Q 19012 Fn3-26 25 None 0.9938 -1.74 1.0 D 0.828 0.586 0.715663011305 gnomAD-2.1.1 1.09E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.58E-05 1.42735E-04
P/Q 19012 Fn3-26 25 None 0.9938 -1.74 1.0 D 0.828 0.586 0.715663011305 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
P/Q 19012 Fn3-26 25 None 0.9938 -1.74 1.0 D 0.828 0.586 0.715663011305 gnomAD-4.0.0 8.70425E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01817E-05 0 3.21182E-05
P/R 19012 Fn3-26 25 rs777291480 0.9918 -1.379 1.0 N 0.894 0.568 0.715137123678 gnomAD-2.1.1 1.64E-05 None None None None N None 0 3.01E-05 None 0 1.15287E-04 None 0 None 0 8.98E-06 0
P/R 19012 Fn3-26 25 rs777291480 0.9918 -1.379 1.0 N 0.894 0.568 0.715137123678 gnomAD-4.0.0 9.61228E-06 None None None None N None 0 1.14884E-04 None 0 1.01358E-04 None 0 0 1.80079E-06 1.18315E-05 3.32325E-05
P/S 19012 Fn3-26 25 None 0.971 None 1.0 N 0.842 0.472 0.445811967706 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
P/L 19308 Fn3-28 25 rs745457069 0.9923 -0.902 1.0 D 0.907 0.534 0.739637433589 gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 0 None 0 None 1.20019E-04 7.83E-06 0
P/L 19308 Fn3-28 25 rs745457069 0.9923 -0.902 1.0 D 0.907 0.534 0.739637433589 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
P/L 19308 Fn3-28 25 rs745457069 0.9923 -0.902 1.0 D 0.907 0.534 0.739637433589 gnomAD-4.0.0 1.2822E-05 None None None None N None 0 0 None 0 0 None 6.27806E-05 0 1.43704E-05 0 0
P/L 19504 Fn3-29 26 rs1454300536 0.951 -0.755 1.0 D 0.892 0.616 0.805501000142 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
P/L 19504 Fn3-29 26 rs1454300536 0.951 -0.755 1.0 D 0.892 0.616 0.805501000142 gnomAD-4.0.0 6.84479E-07 None None None None N None 0 2.23964E-05 None 0 0 None 0 0 0 0 0
P/R 19504 Fn3-29 26 None 0.992 None 1.0 D 0.882 0.635 0.678699861113 gnomAD-4.0.0 6.84479E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99591E-07 0 0
P/L 20001 Fn3-33 25 rs727505345 0.9801 -0.495 1.0 D 0.911 0.543 None gnomAD-2.1.1 2.5E-05 None None None None N None 4.13E-05 0 None 0 1.55167E-04 None 0 None 0 2.35E-05 0
P/L 20001 Fn3-33 25 rs727505345 0.9801 -0.495 1.0 D 0.911 0.543 None gnomAD-3.1.2 5.26E-05 None None None None N None 7.24E-05 0 0 0 1.94401E-04 None 0 0 5.88E-05 0 0
P/L 20001 Fn3-33 25 rs727505345 0.9801 -0.495 1.0 D 0.911 0.543 None gnomAD-4.0.0 1.5498E-05 None None None None N None 5.34231E-05 0 None 0 2.23764E-05 None 1.56289E-05 0 1.52598E-05 0 1.60164E-05
P/T 20001 Fn3-33 25 None 0.9714 None 1.0 D 0.871 0.546 0.621672535409 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
P/H 20196 Fn3-34 26 None 0.9942 None 1.0 D 0.874 0.492 0.594452868026 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/L 20295 Fn3-35 25 rs1208364622 0.9529 -0.701 1.0 D 0.921 0.604 0.832200640711 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
P/L 20295 Fn3-35 25 rs1208364622 0.9529 -0.701 1.0 D 0.921 0.604 0.832200640711 gnomAD-4.0.0 1.60757E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4353E-05 0
P/R 20295 Fn3-35 25 rs1208364622 0.9912 -1.296 1.0 D 0.911 0.547 0.688032785875 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.97E-05 0 None 0 None 0 0 0
P/R 20295 Fn3-35 25 rs1208364622 0.9912 -1.296 1.0 D 0.911 0.547 0.688032785875 gnomAD-4.0.0 1.60757E-06 None None None None N None 0 0 None 4.78194E-05 0 None 0 0 0 0 0
P/S 20295 Fn3-35 25 None 0.9378 None 1.0 D 0.896 0.551 0.594565568268 gnomAD-4.0.0 6.87263E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16109E-05 0
P/T 20295 Fn3-35 25 None 0.9509 None 1.0 D 0.898 0.574 0.64273826783 gnomAD-4.0.0 6.87263E-07 None None None None N None 0 0 None 0 2.5382E-05 None 0 0 0 0 0
P/T 20692 Fn3-38 25 None 0.9911 None 1.0 D 0.849 0.574 0.755504624012 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85933E-06 0 0
P/Q 21088 Fn3-41 25 None 0.9948 None 1.0 D 0.815 0.653 0.718298551108 gnomAD-4.0.0 1.59881E-06 None None None None N None 0 0 None 0 0 None 1.88423E-05 0 0 0 0
P/S 21290 Fn3-42 25 rs986183406 0.9225 -2.095 1.0 N 0.827 0.484 0.45553875121 gnomAD-2.1.1 1.44E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.16E-05 0
P/S 21290 Fn3-42 25 rs986183406 0.9225 -2.095 1.0 N 0.827 0.484 0.45553875121 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.42E-05 0 0
P/S 21290 Fn3-42 25 rs986183406 0.9225 -2.095 1.0 N 0.827 0.484 0.45553875121 gnomAD-4.0.0 8.06213E-06 None None None None N None 0 0 None 0 0 None 0 0 1.10235E-05 0 0
P/A 21390 Fn3-43 25 None 0.9462 None 1.0 D 0.813 0.586 0.581184446821 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 1.94099E-04 0 None 0 0 0 0 0
P/L 21390 Fn3-43 25 rs763262121 0.9912 -0.718 1.0 D 0.898 0.575 0.813234845967 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.34E-05 0
P/L 21390 Fn3-43 25 rs763262121 0.9912 -0.718 1.0 D 0.898 0.575 0.813234845967 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.78469E-04
P/L 21390 Fn3-43 25 rs763262121 0.9912 -0.718 1.0 D 0.898 0.575 0.813234845967 gnomAD-4.0.0 1.28225E-05 None None None None N None 0 0 None 0 0 None 0 0 2.15597E-05 0 2.84738E-05
P/S 21584 Fn3-44 26 rs762924797 0.9916 -2.994 0.988 N 0.802 0.463 0.51372946856 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/S 21584 Fn3-44 26 rs762924797 0.9916 -2.994 0.988 N 0.802 0.463 0.51372946856 gnomAD-4.0.0 1.59223E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
P/T 21584 Fn3-44 26 rs762924797 0.9928 None 0.988 D 0.793 0.494 0.602613489494 gnomAD-4.0.0 1.59223E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
P/L 21683 Fn3-45 25 rs1328998714 0.9747 None 1.0 D 0.907 0.553 0.81331731886 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
P/L 21683 Fn3-45 25 rs1328998714 0.9747 None 1.0 D 0.907 0.553 0.81331731886 gnomAD-4.0.0 1.2399E-06 None None None None N None 1.33622E-05 0 None 0 0 None 0 0 0 1.09815E-05 0
P/Q 21683 Fn3-45 25 rs1328998714 0.9931 None 1.0 D 0.859 0.548 0.669752846865 gnomAD-4.0.0 2.05332E-06 None None None None N None 0 0 None 0 0 None 0 3.47464E-04 8.99643E-07 0 0
P/T 21683 Fn3-45 25 rs528707403 0.9545 -2.085 1.0 D 0.866 0.541 0.650379344195 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.34E-05 0
P/T 21683 Fn3-45 25 rs528707403 0.9545 -2.085 1.0 D 0.866 0.541 0.650379344195 gnomAD-3.1.2 3.95E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 7.36E-05 0 0
P/T 21683 Fn3-45 25 rs528707403 0.9545 -2.085 1.0 D 0.866 0.541 0.650379344195 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
P/T 21683 Fn3-45 25 rs528707403 0.9545 -2.085 1.0 D 0.866 0.541 0.650379344195 gnomAD-4.0.0 1.35759E-04 None None None None N None 1.33429E-05 0 None 0 0 None 0 0 1.82278E-04 0 4.80446E-05
P/L 21980 Fn3-47 25 None 0.9859 None 1.0 D 0.893 0.677 0.894379702187 gnomAD-4.0.0 1.59316E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86169E-06 0 0
P/S 21980 Fn3-47 25 None 0.989 None 1.0 D 0.837 0.617 0.591083742983 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
P/L 22079 Fn3-48 25 rs1379026615 0.9809 None 1.0 D 0.91 0.601 0.733105195128 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
P/L 22079 Fn3-48 25 rs1379026615 0.9809 None 1.0 D 0.91 0.601 0.733105195128 gnomAD-4.0.0 6.41453E-06 None None None None N None 0 0 None 0 0 None 0 0 1.19724E-05 0 0
P/S 22079 Fn3-48 25 None 0.9857 None 1.0 N 0.873 0.489 0.459729313489 gnomAD-4.0.0 6.84686E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99656E-07 0 0
P/T 22180 Fn3-49 25 None 0.9832 None 1.0 D 0.851 0.746 0.635145041397 gnomAD-4.0.0 1.60199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87429E-06 0 0
P/Q 22668 Fn3-52 26 rs879160608 0.9949 -1.922 1.0 D 0.85 0.598 0.680344662427 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
P/Q 22668 Fn3-52 26 rs879160608 0.9949 -1.922 1.0 D 0.85 0.598 0.680344662427 gnomAD-4.0.0 1.36887E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7993E-06 0 0
P/L 22767 Fn3-53 25 rs775953148 0.9558 -0.757 1.0 D 0.923 0.746 0.893768029906 gnomAD-2.1.1 2.84E-05 None None None None N None 0 2.92E-05 None 0 0 None 0 None 4.66E-05 4.47E-05 0
P/L 22767 Fn3-53 25 rs775953148 0.9558 -0.757 1.0 D 0.923 0.746 0.893768029906 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
P/L 22767 Fn3-53 25 rs775953148 0.9558 -0.757 1.0 D 0.923 0.746 0.893768029906 gnomAD-4.0.0 3.16422E-05 None None None None N None 0 3.34303E-05 None 0 0 None 3.12832E-05 0 3.90163E-05 0 1.60364E-05
P/R 22767 Fn3-53 25 None 0.9889 None 1.0 D 0.914 0.794 0.814162761347 gnomAD-4.0.0 6.85012E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00075E-07 0 0
P/T 22767 Fn3-53 25 rs1358490975 0.909 -2.333 1.0 D 0.883 0.719 0.747345648389 gnomAD-2.1.1 8.1E-06 None None None None N None 0 0 None 0 0 None 0 None 9.31E-05 0 0
P/T 22767 Fn3-53 25 rs1358490975 0.909 -2.333 1.0 D 0.883 0.719 0.747345648389 gnomAD-4.0.0 1.5955E-06 None None None None N None 0 0 None 0 0 None 1.8843E-05 0 0 0 0
P/H 22865 Fn3-54 25 None 0.9962 None 1.0 D 0.87 0.651 0.710313493133 gnomAD-4.0.0 1.60057E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87446E-06 0 0
P/L 22865 Fn3-54 25 rs1327514162 0.9755 -0.726 1.0 D 0.892 0.7 0.831665419939 gnomAD-2.1.1 4.08E-06 None None None None N None 0 0 None 0 5.62E-05 None 0 None 0 0 0
P/L 22865 Fn3-54 25 rs1327514162 0.9755 -0.726 1.0 D 0.892 0.7 0.831665419939 gnomAD-4.0.0 6.40229E-06 None None None None N None 0 0 None 0 2.7852E-05 None 0 0 8.62337E-06 0 0
P/R 23264 Fn3-57 25 None 0.9939 None 1.0 D 0.867 0.736 0.713262185059 gnomAD-4.0.0 2.12756E-06 None None None None I None 0 0 None 0 0 None 0 0 2.74611E-06 0 0
P/L 23459 Fn3-58 25 rs776457502 0.9835 -0.247 1.0 D 0.887 0.694 0.659120768314 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
P/L 23459 Fn3-58 25 rs776457502 0.9835 -0.247 1.0 D 0.887 0.694 0.659120768314 gnomAD-4.0.0 4.79033E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29733E-06 0 0
P/A 23556 Fn3-59 25 rs750670403 0.8606 -2.154 1.0 D 0.81 0.651 0.520002024791 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
P/A 23556 Fn3-59 25 rs750670403 0.8606 -2.154 1.0 D 0.81 0.651 0.520002024791 gnomAD-4.0.0 6.84277E-07 None None None None N None 0 0 None 0 2.52143E-05 None 0 0 0 0 0
P/L 23556 Fn3-59 25 rs1230878552 0.9627 -0.721 1.0 D 0.903 0.665 0.802593093059 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/L 23556 Fn3-59 25 rs1230878552 0.9627 -0.721 1.0 D 0.903 0.665 0.802593093059 gnomAD-4.0.0 1.5916E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85899E-06 0 0
P/T 23556 Fn3-59 25 rs750670403 0.959 -2.341 1.0 D 0.83 0.691 0.580217753726 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 2.23214E-04 None 0 None 0 0 0
P/T 23556 Fn3-59 25 rs750670403 0.959 -2.341 1.0 D 0.83 0.691 0.580217753726 gnomAD-4.0.0 5.47422E-06 None None None None N None 0 0 None 0 2.01715E-04 None 0 0 0 0 0
P/A 23850 Fn3-61 25 rs996458558 0.7787 None 1.0 D 0.839 0.683 0.574465425021 gnomAD-4.0.0 4.7903E-06 None None None None N None 2.98846E-05 0 None 0 0 None 0 0 8.99588E-07 0 8.28473E-05
P/H 23948 Fn3-62 25 rs762929729 0.9927 -1.573 1.0 D 0.889 0.788 0.726553868879 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/H 23948 Fn3-62 25 rs762929729 0.9927 -1.573 1.0 D 0.889 0.788 0.726553868879 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85938E-06 0 0
P/L 23948 Fn3-62 25 None 0.9377 None 1.0 D 0.906 0.777 0.702054141035 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
P/T 23948 Fn3-62 25 None 0.9137 None 1.0 D 0.867 0.79 0.676191613372 gnomAD-4.0.0 1.59209E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85933E-06 0 0
P/L 24347 Fn3-65 25 rs762412998 0.9877 -0.238 1.0 D 0.899 0.522 0.713372316176 gnomAD-2.1.1 3.22E-05 None None None None N None 0 2.32113E-04 None 0 0 None 0 None 0 0 0
P/L 24347 Fn3-65 25 rs762412998 0.9877 -0.238 1.0 D 0.899 0.522 0.713372316176 gnomAD-4.0.0 9.55454E-06 None None None None N None 0 1.37237E-04 None 0 0 None 0 0 0 0 0
P/S 24347 Fn3-65 25 None 0.9918 None 1.0 N 0.86 0.491 0.411799315854 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 7.32654E-05
P/A 24543 Fn3-66 25 None 0.8944 None 1.0 D 0.817 0.517 0.53129368577 gnomAD-4.0.0 4.8013E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25002E-06 0 0
P/R 24543 Fn3-66 25 None 0.9979 None 1.0 D 0.888 0.577 0.597153157781 gnomAD-4.0.0 1.59221E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4334E-05 0
P/S 24543 Fn3-66 25 rs1277675236 0.9811 None 1.0 N 0.837 0.471 0.513560046879 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
P/S 24543 Fn3-66 25 rs1277675236 0.9811 None 1.0 N 0.837 0.471 0.513560046879 gnomAD-4.0.0 7.10529E-06 None None None None N None 0 0 None 0 0 None 0 0 8.43475E-06 0 0
P/T 24640 Fn3-67 25 None 0.9863 None 1.0 D 0.837 0.679 0.608446283964 gnomAD-4.0.0 1.59203E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85938E-06 0 0
P/R 24833 Fn3-68 26 None 0.9941 None 1.0 D 0.905 0.66 0.734463599337 gnomAD-4.0.0 1.3688E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99607E-07 1.1595E-05 0
P/S 24833 Fn3-68 26 rs1251877606 0.9771 None 1.0 N 0.871 0.556 0.455996456696 gnomAD-4.0.0 6.36918E-06 None None None None N None 0 0 None 0 5.56359E-05 None 0 0 5.71925E-06 0 0
P/A 24932 Fn3-69 25 rs878982463 0.8812 None 1.0 D 0.833 0.752 0.582924345863 gnomAD-4.0.0 1.77929E-05 None None None None N None 0 0 None 0 0 None 0 0 2.33898E-05 0 0
P/S 24932 Fn3-69 25 rs878982463 0.9748 None 1.0 D 0.858 0.688 0.561065777782 gnomAD-4.0.0 6.84341E-07 None None None None N None 0 0 None 0 2.52143E-05 None 0 0 0 0 0
P/L 25030 Fn3-70 25 None 0.9757 None 1.0 D 0.895 0.762 0.919050959195 gnomAD-4.0.0 6.84819E-07 None None None None N None 2.99133E-05 0 None 0 0 None 0 0 0 0 0
P/A 25229 Fn3-71 26 rs749230632 0.7507 -2.199 1.0 D 0.808 0.641 0.478068462777 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
P/A 25229 Fn3-71 26 rs749230632 0.7507 -2.199 1.0 D 0.808 0.641 0.478068462777 gnomAD-4.0.0 4.1066E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39759E-06 0 0
P/L 25229 Fn3-71 26 None 0.9249 None 1.0 D 0.875 0.664 0.585836789056 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
P/S 25229 Fn3-71 26 rs749230632 0.9454 None 1.0 N 0.817 0.544 0.442775082573 gnomAD-4.0.0 1.36887E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7992E-06 0 0
P/L 25328 Fn3-72 25 rs758581188 0.9655 -0.795 1.0 D 0.937 0.696 0.850381006097 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
P/L 25328 Fn3-72 25 rs758581188 0.9655 -0.795 1.0 D 0.937 0.696 0.850381006097 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
P/L 25328 Fn3-72 25 rs758581188 0.9655 -0.795 1.0 D 0.937 0.696 0.850381006097 gnomAD-4.0.0 3.84299E-05 None None None None N None 0 0 None 0 0 None 0 0 5.25597E-05 0 0
P/S 25328 Fn3-72 25 rs201776072 0.9803 -2.406 1.0 D 0.911 0.629 0.612736520223 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/S 25328 Fn3-72 25 rs201776072 0.9803 -2.406 1.0 D 0.911 0.629 0.612736520223 gnomAD-4.0.0 6.84309E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1595E-05 0
P/T 25328 Fn3-72 25 rs201776072 0.9743 -2.089 1.0 D 0.913 0.684 0.657750020267 gnomAD-2.1.1 8.06E-05 None None None None N None 0 5.80215E-04 None 0 0 None 0 None 0 0 0
P/T 25328 Fn3-72 25 rs201776072 0.9743 -2.089 1.0 D 0.913 0.684 0.657750020267 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
P/T 25328 Fn3-72 25 rs201776072 0.9743 -2.089 1.0 D 0.913 0.684 0.657750020267 gnomAD-4.0.0 1.36365E-05 None None None None N None 0 3.50198E-04 None 0 0 None 0 0 0 0 1.60159E-05
P/R 25429 Fn3-73 25 None 0.9972 None 1.0 D 0.901 0.696 0.86290857626 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
P/T 25429 Fn3-73 25 rs1707494273 0.982 None 1.0 D 0.869 0.696 0.815910387833 gnomAD-4.0.0 1.59191E-06 None None None None N None 0 0 None 0 2.77593E-05 None 0 0 0 0 0
P/A 25722 Fn3-75 25 rs776432275 0.9089 -2.239 1.0 D 0.831 0.717 0.541015953236 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
P/A 25722 Fn3-75 25 rs776432275 0.9089 -2.239 1.0 D 0.831 0.717 0.541015953236 gnomAD-4.0.0 1.59205E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 0 0
P/T 25722 Fn3-75 25 None 0.9808 -2.472 1.0 D 0.863 0.768 0.601816880433 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
P/T 25722 Fn3-75 25 None 0.9808 -2.472 1.0 D 0.863 0.768 0.601816880433 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/T 25722 Fn3-75 25 None 0.9808 -2.472 1.0 D 0.863 0.768 0.601816880433 gnomAD-4.0.0 6.5786E-06 None None None None N None 2.41453E-05 0 None 0 0 None 0 0 0 0 0
P/L 26014 Fn3-77 25 rs766846103 0.974 -0.934 1.0 D 0.875 0.737 0.916481694761 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
P/L 26014 Fn3-77 25 rs766846103 0.974 -0.934 1.0 D 0.875 0.737 0.916481694761 gnomAD-4.0.0 8.21237E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99594E-06 0 3.31433E-05
P/Q 26014 Fn3-77 25 rs766846103 0.9969 None 1.0 D 0.809 0.755 0.814192286201 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
P/Q 26014 Fn3-77 25 rs766846103 0.9969 None 1.0 D 0.809 0.755 0.814192286201 gnomAD-4.0.0 6.57739E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47115E-05 0 0
P/T 26014 Fn3-77 25 rs751646451 0.9736 -1.939 1.0 D 0.821 0.724 0.798483297613 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
P/T 26014 Fn3-77 25 rs751646451 0.9736 -1.939 1.0 D 0.821 0.724 0.798483297613 gnomAD-4.0.0 1.59201E-06 None None None None N None 0 0 None 0 2.77716E-05 None 0 0 0 0 0
P/R 26112 Fn3-78 25 None 0.9966 None 1.0 D 0.887 0.764 0.879588553196 gnomAD-4.0.0 1.59192E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85958E-06 0 0
P/T 26112 Fn3-78 25 None 0.979 None 1.0 D 0.85 0.737 0.835049036447 gnomAD-4.0.0 1.36864E-06 None None None None N None 2.99007E-05 0 None 0 0 None 0 0 0 1.1595E-05 0
P/L 26311 Fn3-79 26 None 0.9713 None 1.0 D 0.903 0.714 0.831421814805 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
P/S 26311 Fn3-79 26 rs888575364 0.9747 -2.493 1.0 N 0.856 0.589 0.44307954383 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
P/S 26311 Fn3-79 26 rs888575364 0.9747 -2.493 1.0 N 0.856 0.589 0.44307954383 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
P/S 26311 Fn3-79 26 rs888575364 0.9747 -2.493 1.0 N 0.856 0.589 0.44307954383 gnomAD-4.0.0 4.342E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93756E-06 0 0
P/R 26410 Fn3-80 25 None 0.9975 None 1.0 D 0.889 0.736 0.669250944419 gnomAD-4.0.0 1.59173E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02554E-05
P/S 26410 Fn3-80 25 None 0.9903 None 1.0 D 0.861 0.68 0.581534369529 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
P/L 26511 Fn3-81 25 rs1298988924 0.9752 -0.6 1.0 D 0.897 0.766 0.91646365068 gnomAD-2.1.1 7.17E-06 None None None None N None 0 0 None 0 1.02512E-04 None 0 None 0 0 0
P/L 26511 Fn3-81 25 rs1298988924 0.9752 -0.6 1.0 D 0.897 0.766 0.91646365068 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93349E-04 None 0 0 0 0 0
P/L 26511 Fn3-81 25 rs1298988924 0.9752 -0.6 1.0 D 0.897 0.766 0.91646365068 gnomAD-4.0.0 1.24042E-06 None None None None N None 0 0 None 0 4.45831E-05 None 0 0 0 0 0
P/L 26707 Fn3-82 25 None 0.9714 None 1.0 D 0.872 0.7 0.769475359402 gnomAD-4.0.0 1.59183E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85948E-06 0 0
P/T 26707 Fn3-82 25 None 0.9635 None 1.0 D 0.819 0.703 None gnomAD-4.0.0 1.59184E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85954E-06 0 0
P/R 26804 Fn3-83 25 rs1299301898 0.994 -1.24 1.0 D 0.883 0.762 0.664580999671 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
P/R 26804 Fn3-83 25 rs1299301898 0.994 -1.24 1.0 D 0.883 0.762 0.664580999671 gnomAD-4.0.0 1.59166E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 0 0
P/T 26804 Fn3-83 25 None 0.9614 None 1.0 D 0.834 0.738 0.604738496201 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
P/S 27394 Fn3-87 26 None 0.938 None 1.0 D 0.857 0.48 0.57803241275 gnomAD-4.0.0 3.18284E-06 None None None None N None 5.65675E-05 0 None 0 0 None 1.88232E-05 0 0 0 0
P/T 27394 Fn3-87 26 None 0.9308 None 1.0 D 0.855 0.5 0.631643887469 gnomAD-4.0.0 3.18284E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71732E-06 0 0
P/S 27790 Fn3-90 25 rs1427845923 0.9718 -2.489 1.0 N 0.822 0.628 0.463157528383 gnomAD-2.1.1 8.07E-06 None None None None N None 0 2.91E-05 None 0 0 None 3.27E-05 None 0 0 0
P/S 27790 Fn3-90 25 rs1427845923 0.9718 -2.489 1.0 N 0.822 0.628 0.463157528383 gnomAD-4.0.0 4.79146E-06 None None None None N None 2.99133E-05 2.23854E-05 None 0 0 None 0 0 3.59859E-06 1.15999E-05 0
P/Q 27887 Fn3-91 25 rs751121559 0.9937 -2.153 1.0 D 0.843 0.681 None gnomAD-2.1.1 7.15E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.56E-05 0
P/Q 27887 Fn3-91 25 rs751121559 0.9937 -2.153 1.0 D 0.843 0.681 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/Q 27887 Fn3-91 25 rs751121559 0.9937 -2.153 1.0 D 0.843 0.681 None gnomAD-4.0.0 6.19908E-06 None None None None N None 0 1.66845E-05 None 0 0 None 0 0 7.62967E-06 0 0
P/T 28178 Fn3-93 25 None 0.9776 None 1.0 D 0.855 0.711 0.77169317571 gnomAD-4.0.0 1.36906E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7994E-06 0 0
P/L 28276 Fn3-94 25 None 0.9613 None 1.0 D 0.916 0.692 0.729455935219 gnomAD-4.0.0 1.59123E-06 None None None None N None 5.65483E-05 0 None 0 0 None 0 0 0 0 0
P/L 28475 Fn3-95 26 None 0.7363 None 0.978 D 0.881 0.562 0.891450760401 gnomAD-4.0.0 2.73718E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59787E-06 0 0
P/S 28574 Fn3-96 25 None 0.9466 None 0.568 N 0.553 0.466 0.304108284078 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-05
P/L 28675 Fn3-97 25 rs766419568 0.9749 -0.744 1.0 D 0.885 0.554 0.87202896623 gnomAD-2.1.1 2.15E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.72E-05 0
P/L 28675 Fn3-97 25 rs766419568 0.9749 -0.744 1.0 D 0.885 0.554 0.87202896623 gnomAD-3.1.2 3.95E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 7.35E-05 0 0
P/L 28675 Fn3-97 25 rs766419568 0.9749 -0.744 1.0 D 0.885 0.554 0.87202896623 gnomAD-4.0.0 6.25936E-05 None None None None N None 0 0 None 0 0 None 0 0 8.4764E-05 1.09806E-05 0
P/Q 28675 Fn3-97 25 rs766419568 0.9922 -2.028 1.0 D 0.811 0.557 0.697046195919 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14837E-04 0 None 0 0 None 0 None 0 0 0
P/Q 28675 Fn3-97 25 rs766419568 0.9922 -2.028 1.0 D 0.811 0.557 0.697046195919 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
P/Q 28675 Fn3-97 25 rs766419568 0.9922 -2.028 1.0 D 0.811 0.557 0.697046195919 gnomAD-4.0.0 6.58042E-06 None None None None N None 2.41558E-05 0 None 0 0 None 0 0 0 0 0
P/R 28869 Fn3-98 25 None 0.9908 None 1.0 D 0.881 0.62 0.703389443201 gnomAD-4.0.0 1.59134E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02425E-05
P/S 28869 Fn3-98 25 rs1702825954 0.9448 None 1.0 N 0.839 0.505 0.417586769301 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
P/S 28869 Fn3-98 25 rs1702825954 0.9448 None 1.0 N 0.839 0.505 0.417586769301 gnomAD-4.0.0 6.57229E-06 None None None None N None 2.41348E-05 0 None 0 0 None 0 0 0 0 0
P/A 28966 Fn3-99 25 None 0.8537 None 1.0 D 0.825 0.692 0.622259118589 gnomAD-4.0.0 1.59145E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8582E-06 0 0
P/S 28966 Fn3-99 25 rs1216201291 0.9723 -2.679 1.0 D 0.855 0.637 0.584086171949 gnomAD-2.1.1 1.61E-05 None None None None N None 0 1.16056E-04 None 0 0 None 0 None 0 0 0
P/S 28966 Fn3-99 25 rs1216201291 0.9723 -2.679 1.0 D 0.855 0.637 0.584086171949 gnomAD-4.0.0 6.3658E-06 None None None None N None 0 9.14578E-05 None 0 0 None 0 0 0 0 0
P/R 29162 Fn3-100 26 rs1396243813 0.9893 None 1.0 D 0.893 0.71 0.582670042736 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
P/R 29162 Fn3-100 26 rs1396243813 0.9893 None 1.0 D 0.893 0.71 0.582670042736 gnomAD-4.0.0 2.56203E-06 None None None None N None 1.6913E-05 0 None 0 2.42354E-05 None 0 0 0 0 0
P/T 29162 Fn3-100 26 None 0.9567 None 1.0 D 0.85 0.621 0.530655398971 gnomAD-4.0.0 2.7368E-06 None None None None N None 0 0 None 0 0 None 1.8754E-05 0 2.69828E-06 0 0
P/T 29261 Fn3-101 25 None 0.9601 None 1.0 D 0.855 0.697 0.796983491231 gnomAD-4.0.0 1.59108E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
P/L 29558 Fn3-103 26 rs1438123245 0.8256 -0.677 1.0 D 0.897 0.597 0.737052393128 gnomAD-2.1.1 7.14E-06 None None None None N None 8.26E-05 0 None 0 0 None 0 None 0 0 0
P/L 29558 Fn3-103 26 rs1438123245 0.8256 -0.677 1.0 D 0.897 0.597 0.737052393128 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
P/L 29558 Fn3-103 26 rs1438123245 0.8256 -0.677 1.0 D 0.897 0.597 0.737052393128 gnomAD-4.0.0 3.84273E-06 None None None None N None 5.0734E-05 0 None 0 0 None 0 0 0 0 0
P/T 29657 Fn3-104 25 rs1700388515 0.9679 None 1.0 D 0.847 0.669 0.610467662648 gnomAD-4.0.0 6.84252E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99471E-07 0 0
P/T 29957 Fn3-106 25 rs1164517962 0.98 -2.12 0.978 D 0.811 0.642 0.631129199617 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
P/T 29957 Fn3-106 25 rs1164517962 0.98 -2.12 0.978 D 0.811 0.642 0.631129199617 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
P/T 29957 Fn3-106 25 rs1164517962 0.98 -2.12 0.978 D 0.811 0.642 0.631129199617 gnomAD-4.0.0 1.92349E-05 None None None None N None 0 0 None 0 0 None 0 0 2.62765E-05 0 0
P/L 30054 Fn3-107 25 rs767891763 0.9797 -0.759 1.0 D 0.903 0.571 0.740784487212 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
P/L 30054 Fn3-107 25 rs767891763 0.9797 -0.759 1.0 D 0.903 0.571 0.740784487212 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
P/L 30054 Fn3-107 25 rs767891763 0.9797 -0.759 1.0 D 0.903 0.571 0.740784487212 gnomAD-4.0.0 1.9209E-05 None None None None N None 1.33454E-05 0 None 0 0 None 0 0 2.54271E-05 0 0
P/R 30054 Fn3-107 25 None 0.9945 None 1.0 D 0.893 0.622 0.563173181975 gnomAD-4.0.0 6.84169E-07 None None None None N None 0 2.23604E-05 None 0 0 None 0 0 0 0 0
P/A 30249 Fn3-108 26 rs751971702 0.8383 -1.821 1.0 D 0.787 0.69 0.593798965771 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
P/A 30249 Fn3-108 26 rs751971702 0.8383 -1.821 1.0 D 0.787 0.69 0.593798965771 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
P/A 30249 Fn3-108 26 rs751971702 0.8383 -1.821 1.0 D 0.787 0.69 0.593798965771 gnomAD-4.0.0 1.8593E-06 None None None None N None 1.33615E-05 0 None 0 0 None 0 0 1.69523E-06 0 0
P/S 30249 Fn3-108 26 None 0.9723 None 1.0 D 0.803 0.628 0.582356428975 gnomAD-4.0.0 6.84209E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15966E-05 0
P/L 30348 Fn3-109 25 rs1465887824 0.8771 -0.583 1.0 D 0.887 0.631 0.841468654952 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
P/L 30348 Fn3-109 25 rs1465887824 0.8771 -0.583 1.0 D 0.887 0.631 0.841468654952 gnomAD-4.0.0 3.18218E-06 None None None None N None 0 0 None 0 0 None 1.88239E-05 0 2.85793E-06 0 0
P/S 30348 Fn3-109 25 rs746285549 0.8205 -1.871 1.0 N 0.823 0.632 0.427940940899 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
P/S 30348 Fn3-109 25 rs746285549 0.8205 -1.871 1.0 N 0.823 0.632 0.427940940899 gnomAD-4.0.0 6.84183E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99449E-07 0 0
P/T 30348 Fn3-109 25 None 0.8253 None 1.0 D 0.818 0.701 0.651931416193 gnomAD-4.0.0 2.05255E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69835E-06 0 0
P/L 30446 Fn3-110 25 rs1699285500 0.979 None 1.0 D 0.9 0.612 0.87861949169 gnomAD-4.0.0 1.09491E-05 None None None None N None 0 0 None 0 0 None 0 0 1.25939E-05 0 3.31367E-05
P/R 30743 Fn3-112 25 rs771621337 0.995 -0.906 1.0 D 0.908 0.731 0.829251667788 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/R 30743 Fn3-112 25 rs771621337 0.995 -0.906 1.0 D 0.908 0.731 0.829251667788 gnomAD-4.0.0 3.18291E-06 None None None None N None 0 0 None 0 0 None 0 2.41313E-04 2.85843E-06 0 0
P/L 30845 Fn3-113 25 rs776489830 0.9408 -0.68 1.0 D 0.896 0.836 0.916646520119 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
P/L 30845 Fn3-113 25 rs776489830 0.9408 -0.68 1.0 D 0.896 0.836 0.916646520119 gnomAD-4.0.0 3.0984E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23786E-06 0 0
P/S 30845 Fn3-113 25 rs1314867474 0.9405 None 1.0 D 0.864 0.797 0.664918217258 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
P/S 30845 Fn3-113 25 rs1314867474 0.9405 None 1.0 D 0.864 0.797 0.664918217258 gnomAD-4.0.0 6.57479E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47016E-05 0 0
P/T 31137 Fn3-115 25 None 0.968 None 0.998 D 0.785 0.709 0.572452295634 gnomAD-4.0.0 3.42089E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49722E-06 0 0
P/L 31333 Fn3-116 26 None 0.8921 None 1.0 D 0.909 0.519 0.665058716224 gnomAD-4.0.0 1.5911E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85804E-06 0 0
P/S 31333 Fn3-116 26 None 0.8946 None 1.0 N 0.857 0.449 0.421674004627 gnomAD-4.0.0 3.1822E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85804E-06 1.43271E-05 0
P/L 31432 Fn3-117 25 rs759415579 0.9763 -0.488 1.0 D 0.898 0.62 0.904311493753 gnomAD-2.1.1 3.22E-05 None None None None N None 0 0 None 0 0 None 2.61472E-04 None 0 0 0
P/L 31432 Fn3-117 25 rs759415579 0.9763 -0.488 1.0 D 0.898 0.62 0.904311493753 gnomAD-4.0.0 1.43685E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.31879E-04 1.65662E-05
P/L 31732 Fn3-119 25 rs753334568 0.9061 -0.671 1.0 D 0.888 0.727 0.908895312635 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 1.78E-05 0
P/L 31732 Fn3-119 25 rs753334568 0.9061 -0.671 1.0 D 0.888 0.727 0.908895312635 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
P/L 31732 Fn3-119 25 rs753334568 0.9061 -0.671 1.0 D 0.888 0.727 0.908895312635 Vasli (2012) Pfeffer (2013) Palmio (2013) Hedberg (2014) Yue (2015) Rees (2021) Sano (2022) None CM HMERF hom / comp het with R34091W None None N Incomplete penetrance, more severe when homozygous; Found in genetic analysis of TTN in 30 CM patients (homozygous); genetic analysis of genes in 127 undiagnosed patients (likely MFM); WES/WGS prioritisation in 12 HMERF families; genetic analysis in single NMD patient (heterozygous); genetic analysis of CN patient (sporadic) and unaffected carrier (brother); Domain unfolded in vitro (Tm 17 degrees lower than WT) None None None None None None None None None None None
P/L 31732 Fn3-119 25 rs753334568 0.9061 -0.671 1.0 D 0.888 0.727 0.908895312635 gnomAD-4.0.0 9.29582E-06 None None None None N None 0 1.66706E-05 None 0 0 None 0 0 1.01715E-05 1.09786E-05 1.60123E-05
P/R 31732 Fn3-119 25 None 0.9881 None 1.0 D 0.879 0.764 0.817229753402 gnomAD-4.0.0 6.84245E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15937E-05 0
P/A 31933 Fn3-121 25 None 0.7881 None 1.0 D 0.831 0.552 0.656232129661 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
P/S 32226 Fn3-123 25 rs1060500595 0.9219 None 1.0 D 0.823 0.697 0.5343833383 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/S 32226 Fn3-123 25 rs1060500595 0.9219 None 1.0 D 0.823 0.697 0.5343833383 gnomAD-4.0.0 6.57531E-06 None None None None N None 2.41371E-05 0 None 0 0 None 0 0 0 0 0
P/T 32226 Fn3-123 25 rs1060500595 0.9088 -2.142 1.0 D 0.821 0.74 0.606135397127 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
P/T 32226 Fn3-123 25 rs1060500595 0.9088 -2.142 1.0 D 0.821 0.74 0.606135397127 gnomAD-4.0.0 1.59112E-06 None None None None N None 0 0 None 0 2.77269E-05 None 0 0 0 0 0
P/R 32424 Fn3-124 26 None 0.9863 None 0.085 D 0.683 0.657 0.679066282414 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
P/Q 32523 Fn3-125 25 None 0.9613 None 1.0 D 0.817 0.685 0.6697384959 gnomAD-4.0.0 1.36895E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79939E-06 0 0
P/R 32523 Fn3-125 25 rs1406600321 0.962 -1.254 1.0 D 0.874 0.694 0.7057210436 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
P/R 32523 Fn3-125 25 rs1406600321 0.962 -1.254 1.0 D 0.874 0.694 0.7057210436 gnomAD-4.0.0 6.84473E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99696E-07 0 0
P/S 32820 Fn3-127 26 rs769919302 0.9035 -1.948 1.0 D 0.833 0.651 0.651299431776 gnomAD-2.1.1 1.21E-05 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 1.78E-05 0
P/S 32820 Fn3-127 26 rs769919302 0.9035 -1.948 1.0 D 0.833 0.651 0.651299431776 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
P/S 32820 Fn3-127 26 rs769919302 0.9035 -1.948 1.0 D 0.833 0.651 0.651299431776 gnomAD-4.0.0 8.9673E-06 None None None None N None 1.69193E-05 0 None 0 0 None 0 0 1.43576E-05 0 0
P/L 33022 Fn3-129 25 rs987137780 0.964 -0.77 1.0 D 0.921 0.621 0.806718744816 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
P/L 33022 Fn3-129 25 rs987137780 0.964 -0.77 1.0 D 0.921 0.621 0.806718744816 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
P/L 33022 Fn3-129 25 rs987137780 0.964 -0.77 1.0 D 0.921 0.621 0.806718744816 gnomAD-4.0.0 6.19783E-06 None None None None N None 0 0 None 0 0 None 0 0 8.47673E-06 0 0
P/T 33022 Fn3-129 25 rs779645034 0.9401 -2.023 1.0 D 0.858 0.624 0.628675003835 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
P/T 33022 Fn3-129 25 rs779645034 0.9401 -2.023 1.0 D 0.858 0.624 0.628675003835 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
P/T 33022 Fn3-129 25 rs779645034 0.9401 -2.023 1.0 D 0.858 0.624 0.628675003835 gnomAD-4.0.0 1.23958E-06 None None None None N None 1.33586E-05 0 None 0 0 None 0 0 0 1.09808E-05 0
P/T 33315 Fn3-130 26 rs1401105733 0.9577 -2.039 0.998 D 0.803 0.529 0.51230852224 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
P/T 33315 Fn3-130 26 rs1401105733 0.9577 -2.039 0.998 D 0.803 0.529 0.51230852224 gnomAD-4.0.0 1.5916E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
P/S 33416 Fn3-131 25 None 0.8862 None 1.0 D 0.849 0.634 0.576080139486 gnomAD-4.0.0 1.73458E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.70103E-05 0
P/T 33416 Fn3-131 25 rs1691567099 0.8602 None 1.0 D 0.846 0.686 0.627645487632 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
P/A 33713 Fn3-132 25 None 0.6966 None 0.04 N 0.508 0.589 0.309530620856 gnomAD-4.0.0 6.84208E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9945E-07 0 0
P/L 33713 Fn3-132 25 rs1317049640 0.9501 -0.771 0.997 D 0.872 0.677 0.767357779069 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
P/L 33713 Fn3-132 25 rs1317049640 0.9501 -0.771 0.997 D 0.872 0.677 0.767357779069 gnomAD-4.0.0 2.0526E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69834E-06 0 0
P/S 33713 Fn3-132 25 None 0.9482 None 0.988 N 0.765 0.637 0.438383285633 gnomAD-4.0.0 6.84208E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9945E-07 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.