Structural position:

  • Domain Type: Fn3
  • Aligned Position: 125
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand G

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
N/H 15748 Fn3-1 92 rs368988689 0.071 -0.234 0.162 N 0.285 0.126 None gnomAD-2.1.1 1.79E-05 None None None None N None 2.06902E-04 0 None 0 0 None 0 None 0 0 0
N/H 15748 Fn3-1 92 rs368988689 0.071 -0.234 0.162 N 0.285 0.126 None gnomAD-3.1.2 8.56E-05 None None None None N None 2.89715E-04 0 0 0 0 None 0 0 0 0 4.78927E-04
N/H 15748 Fn3-1 92 rs368988689 0.071 -0.234 0.162 N 0.285 0.126 None gnomAD-4.0.0 1.55027E-05 None None None None N None 2.80689E-04 0 None 0 0 None 0 0 8.48064E-07 0 4.80831E-05
N/S 15748 Fn3-1 92 None 0.0615 None None N 0.052 0.103 0.0611884634855 gnomAD-4.0.0 2.05384E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69963E-06 0 0
G/D 15950 Fn3-3 92 rs1289743625 0.6977 -0.32 1.0 N 0.881 0.346 0.176091768786 gnomAD-2.1.1 7.35E-06 None None None None N None 4.22E-05 2.91E-05 None 0 0 None 0 None 0 0 0
G/D 15950 Fn3-3 92 rs1289743625 0.6977 -0.32 1.0 N 0.881 0.346 0.176091768786 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
G/D 15950 Fn3-3 92 rs1289743625 0.6977 -0.32 1.0 N 0.881 0.346 0.176091768786 gnomAD-4.0.0 2.58056E-06 None None None None N None 1.69848E-05 1.71462E-05 None 0 0 None 0 0 0 0 0
G/S 15950 Fn3-3 92 None 0.3995 None 1.0 N 0.829 0.36 0.16115917748 gnomAD-4.0.0 1.6053E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.45146E-05 0
D/G 16641 Fn3-8 91 None 0.3795 None 0.996 N 0.811 0.423 0.439339381091 gnomAD-4.0.0 1.2004E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31256E-06 0 0
D/E 16741 Fn3-9 91 rs372658275 0.537 None 0.999 N 0.503 0.159 0.258283824007 gnomAD-3.1.2 1.97E-05 None None None None I None 4.83E-05 6.55E-05 0 0 0 None 0 0 0 0 0
D/E 16741 Fn3-9 91 rs372658275 0.537 None 0.999 N 0.503 0.159 0.258283824007 gnomAD-4.0.0 3.10078E-06 None None None None I None 4.00866E-05 1.66911E-05 None 0 0 None 0 0 0 0 1.60292E-05
E/K 16842 Fn3-10 92 None 0.3485 None 0.799 N 0.571 0.221 0.292062946507 gnomAD-4.0.0 1.59391E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86229E-06 0 0
E/G 16944 Fn3-11 93 rs758389457 0.2077 -0.204 0.999 N 0.673 0.391 0.489728331402 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/G 16944 Fn3-11 93 rs758389457 0.2077 -0.204 0.999 N 0.673 0.391 0.489728331402 gnomAD-4.0.0 1.59333E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
N/K 17137 Fn3-12 91 rs751177363 0.5383 0.518 0.999 N 0.762 0.279 0.221019684889 gnomAD-2.1.1 7.16E-06 None None None None N None 8.28E-05 0 None 0 0 None 0 None 0 0 0
N/K 17137 Fn3-12 91 rs751177363 0.5383 0.518 0.999 N 0.762 0.279 0.221019684889 gnomAD-3.1.2 2.63E-05 None None None None N None 9.66E-05 0 0 0 0 None 0 0 0 0 0
N/K 17137 Fn3-12 91 rs751177363 0.5383 0.518 0.999 N 0.762 0.279 0.221019684889 gnomAD-4.0.0 6.41355E-06 None None None None N None 8.46998E-05 0 None 0 0 None 0 0 0 0 0
P/A 17238 Fn3-13 92 rs773035917 0.0819 -0.254 0.996 N 0.771 0.285 0.185906805712 gnomAD-2.1.1 4.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.11E-06 0
P/A 17238 Fn3-13 92 rs773035917 0.0819 -0.254 0.996 N 0.771 0.285 0.185906805712 gnomAD-4.0.0 3.44476E-06 None None None None N None 0 0 None 0 0 None 0 3.49895E-04 9.04801E-07 1.17827E-05 1.66923E-05
P/S 17238 Fn3-13 92 rs773035917 0.1272 -0.276 1.0 N 0.833 0.28 0.202086224978 gnomAD-2.1.1 6.2E-05 None None None None N None 0 0 None 0 0 None 0 None 4.08E-05 1.27738E-04 0
P/S 17238 Fn3-13 92 rs773035917 0.1272 -0.276 1.0 N 0.833 0.28 0.202086224978 gnomAD-3.1.2 1.11892E-04 None None None None N None 0 0 0 2.88351E-04 0 None 1.88573E-04 0 2.06101E-04 0 0
P/S 17238 Fn3-13 92 rs773035917 0.1272 -0.276 1.0 N 0.833 0.28 0.202086224978 gnomAD-4.0.0 5.11409E-05 None None None None N None 0 0 None 3.44021E-05 0 None 1.41376E-04 0 5.96687E-05 0 3.22601E-05
P/T 17238 Fn3-13 92 None 0.1201 -0.314 0.999 N 0.8 0.287 0.310458034454 gnomAD-2.1.1 4.12E-06 None None None None N None 0 2.93E-05 None 0 0 None 0 None 0 0 0
D/G 17560 Fn3-15 91 None 0.3301 None 0.991 N 0.771 0.412 0.303781844768 gnomAD-4.0.0 1.61662E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.07163E-05
D/H 17560 Fn3-15 91 None 0.4119 None 1.0 N 0.853 0.411 0.355658859761 gnomAD-4.0.0 6.88993E-07 None None None None N None 0 0 None 0 2.54699E-05 None 0 0 0 0 0
D/V 17560 Fn3-15 91 rs954068043 0.1969 None 0.998 N 0.871 0.401 0.435699915968 gnomAD-3.1.2 1.32E-05 None None None None N None 0 1.31096E-04 0 0 0 None 0 0 0 0 0
D/V 17560 Fn3-15 91 rs954068043 0.1969 None 0.998 N 0.871 0.401 0.435699915968 gnomAD-4.0.0 5.19085E-06 None None None None N None 0 6.90369E-05 None 0 0 None 0 0 0 0 0
N/D 17953 Fn3-18 92 None 0.5188 None 0.006 N 0.241 0.187 0.171388866994 gnomAD-4.0.0 6.87557E-07 None None None None N None 0 2.25734E-05 None 0 0 None 0 0 0 0 0
N/K 17953 Fn3-18 92 rs769210939 0.8574 -0.233 0.651 N 0.417 0.08 0.0954503805726 gnomAD-2.1.1 2.86E-05 None None None None N None 0 0 None 0 3.95212E-04 None 0 None 0 0 0
N/K 17953 Fn3-18 92 rs769210939 0.8574 -0.233 0.651 N 0.417 0.08 0.0954503805726 gnomAD-4.0.0 4.12561E-06 None None None None N None 0 0 None 0 1.52122E-04 None 0 0 0 0 0
N/S 17953 Fn3-18 92 rs2054557053 0.1541 None 0.278 N 0.443 0.144 0.168933306366 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
N/Y 17953 Fn3-18 92 None 0.4618 None 0.976 N 0.562 0.323 0.447410926215 gnomAD-4.0.0 6.87557E-07 None None None None N None 0 0 None 0 0 None 0 0 9.02915E-07 0 0
D/H 18156 Fn3-19 92 None 0.2886 None 0.895 N 0.566 0.292 0.289474373501 gnomAD-4.0.0 1.6119E-06 None None None None N None 0 2.32245E-05 None 0 0 None 0 0 0 0 0
D/G 18262 Fn3-20 97 None 0.2527 None 0.991 N 0.78 0.326 0.326881540566 gnomAD-4.0.0 1.6019E-06 None None None None N None 0 0 None 0 2.78676E-05 None 0 0 0 0 0
G/A 18365 Fn3-21 94 rs2053664873 0.0711 None 0.001 N 0.248 0.105 0.132336055621 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/R 18365 Fn3-21 94 rs779878917 0.1444 -0.121 0.624 N 0.791 0.094 0.574230370252 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
G/R 18365 Fn3-21 94 rs779878917 0.1444 -0.121 0.624 N 0.791 0.094 0.574230370252 gnomAD-4.0.0 4.78037E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58639E-06 0 0
Q/P 18569 Fn3-22 91 None 0.5501 None 0.915 N 0.495 0.26 0.256283259241 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/C 18675 Fn3-23 97 rs1478453765 0.7115 -0.721 1.0 N 0.855 0.384 0.745503425957 gnomAD-2.1.1 6.38E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.29719E-04 0
G/C 18675 Fn3-23 97 rs1478453765 0.7115 -0.721 1.0 N 0.855 0.384 0.745503425957 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 5.89E-05 0 0
G/C 18675 Fn3-23 97 rs1478453765 0.7115 -0.721 1.0 N 0.855 0.384 0.745503425957 gnomAD-4.0.0 2.63186E-05 None None None None N None 0 0 None 0 0 None 0 0 5.88599E-05 0 0
E/D 18874 Fn3-24 91 None 0.1084 None 0.007 N 0.347 0.05 0.198526703765 gnomAD-4.0.0 1.47445E-06 None None None None N None 0 0 None 0 0 None 0 0 1.87813E-06 0 0
E/K 18874 Fn3-24 91 rs781465190 0.1037 -0.156 0.518 N 0.441 0.12 0.260735089382 gnomAD-2.1.1 5.87E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.18E-05 0
E/K 18874 Fn3-24 91 rs781465190 0.1037 -0.156 0.518 N 0.441 0.12 0.260735089382 gnomAD-4.0.0 7.38197E-07 None None None None N None 0 0 None 0 0 None 0 0 9.39894E-07 0 0
E/Q 18874 Fn3-24 91 None 0.1183 None 0.062 N 0.295 0.098 0.237489013734 gnomAD-4.0.0 7.38197E-07 None None None None N None 0 0 None 0 0 None 0 0 9.39894E-07 0 0
D/E 18979 Fn3-25 96 rs761214924 0.1601 -0.097 0.999 N 0.51 0.194 0.136095386433 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
D/H 18979 Fn3-25 96 None 0.544 None 1.0 N 0.713 0.335 0.311387274539 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 19079 Fn3-26 92 rs1160274836 0.1294 0.137 0.883 N 0.589 0.246 0.324161360171 gnomAD-4.0.0 1.5924E-06 None None None None N None 0 2.28885E-05 None 0 0 None 0 0 0 0 0
D/V 19079 Fn3-26 92 None 0.3776 None 0.883 N 0.713 0.325 0.40528724903 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
E/K 19274 Fn3-27 92 rs1410177303 0.0828 None None N 0.035 0.135 0.0401082797425 gnomAD-4.0.0 1.41807E-06 None None None None I None 0 0 None 0 0 None 0 0 1.84462E-06 0 0
K/R 19375 Fn3-28 92 rs374594411 0.1412 0.113 0.997 N 0.675 0.205 None gnomAD-2.1.1 2.61E-05 None None None None N None 8.33E-05 0 None 0 0 None 0 None 0 4.03E-05 0
K/R 19375 Fn3-28 92 rs374594411 0.1412 0.113 0.997 N 0.675 0.205 None gnomAD-3.1.2 3.95E-05 None None None None N None 0 0 0 0 0 None 0 0 8.83E-05 0 0
K/R 19375 Fn3-28 92 rs374594411 0.1412 0.113 0.997 N 0.675 0.205 None gnomAD-4.0.0 1.75368E-05 None None None None N None 2.6992E-05 0 None 0 0 None 0 1.66389E-04 2.04808E-05 0 1.61996E-05
D/N 19569 Fn3-29 91 rs397517638 0.0962 0.353 0.915 N 0.499 0.203 0.330069100803 gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 8.96E-06 0
D/N 19569 Fn3-29 91 rs397517638 0.0962 0.353 0.915 N 0.499 0.203 0.330069100803 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
D/N 19569 Fn3-29 91 rs397517638 0.0962 0.353 0.915 N 0.499 0.203 0.330069100803 gnomAD-4.0.0 1.86072E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69579E-06 1.10135E-05 0
K/N 19670 Fn3-30 92 rs2050621372 0.3908 None 0.999 N 0.726 0.145 0.197625483188 gnomAD-4.0.0 1.59217E-06 None None None None N None 0 0 None 4.76917E-05 0 None 0 0 0 0 0
E/A 19773 Fn3-31 94 None 0.1244 None 0.877 N 0.586 0.351 0.3571064206 gnomAD-4.0.0 6.84345E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99585E-07 0 0
E/G 19773 Fn3-31 94 rs371719028 0.1174 -0.092 0.877 N 0.455 0.261 None gnomAD-2.1.1 2.21626E-04 None None None None I None 2.56241E-03 0 None 0 0 None 0 None 0 0 0
E/G 19773 Fn3-31 94 rs371719028 0.1174 -0.092 0.877 N 0.455 0.261 None gnomAD-3.1.2 7.23275E-04 None None None None I None 2.58192E-03 1.96567E-04 0 0 0 None 0 0 0 0 0
E/G 19773 Fn3-31 94 rs371719028 0.1174 -0.092 0.877 N 0.455 0.261 None 1000 genomes 5.99042E-04 None None None None I None 2.3E-03 0 None None 0 0 None None None 0 None
E/G 19773 Fn3-31 94 rs371719028 0.1174 -0.092 0.877 N 0.455 0.261 None gnomAD-4.0.0 1.19619E-04 None None None None I None 2.46621E-03 5.00167E-05 None 0 0 None 0 0 0 0 8.00384E-05
K/E 19967 Fn3-32 91 rs780485428 0.1608 -0.091 0.682 N 0.428 0.25 0.241078983079 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
K/E 19967 Fn3-32 91 rs780485428 0.1608 -0.091 0.682 N 0.428 0.25 0.241078983079 gnomAD-4.0.0 4.79194E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29788E-06 0 0
I/L 20065 Fn3-33 89 None 0.1188 None 0.001 N 0.117 0.118 0.369867359543 gnomAD-4.0.0 1.5923E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86008E-06 0 0
D/E 20361 Fn3-35 91 rs1250284752 0.1725 0.01 0.999 N 0.591 0.163 0.17948927462 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
D/E 20361 Fn3-35 91 rs1250284752 0.1725 0.01 0.999 N 0.591 0.163 0.17948927462 gnomAD-4.0.0 1.59259E-06 None None None None N None 0 2.28791E-05 None 0 0 None 0 0 0 0 0
E/K 20759 Fn3-38 92 rs562680371 0.3823 0.736 0.842 N 0.422 0.217 0.313210971179 gnomAD-2.1.1 5.08061E-04 None None None None N None 8.27E-05 0 None 0 0 None 4.57696E-03 None 0 0 0
E/K 20759 Fn3-38 92 rs562680371 0.3823 0.736 0.842 N 0.422 0.217 0.313210971179 gnomAD-3.1.2 2.23608E-04 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 6.63075E-03 4.78469E-04
E/K 20759 Fn3-38 92 rs562680371 0.3823 0.736 0.842 N 0.422 0.217 0.313210971179 1000 genomes 1.19808E-03 None None None None N None 0 0 None None 0 0 None None None 6.1E-03 None
E/K 20759 Fn3-38 92 rs562680371 0.3823 0.736 0.842 N 0.422 0.217 0.313210971179 gnomAD-4.0.0 2.64661E-04 None None None None N None 2.66631E-05 0 None 0 0 None 0 1.6518E-04 8.47725E-07 4.44723E-03 2.88138E-04
R/G 21054 Fn3-40 92 rs746070034 0.2311 -0.063 0.457 N 0.463 0.204 0.26547132957 gnomAD-2.1.1 5.27E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.1E-05 0
R/G 21054 Fn3-40 92 rs746070034 0.2311 -0.063 0.457 N 0.463 0.204 0.26547132957 gnomAD-4.0.0 1.44203E-05 None None None None I None 0 0 None 0 0 None 0 0 1.85452E-05 0 0
R/K 21054 Fn3-40 92 rs1164637816 0.0702 0.112 0.003 N 0.42 0.043 0.165133752707 gnomAD-2.1.1 2.11E-05 None None None None I None 0 0 None 0 0 None 2.46366E-04 None 0 0 0
R/K 21054 Fn3-40 92 rs1164637816 0.0702 0.112 0.003 N 0.42 0.043 0.165133752707 gnomAD-4.0.0 5.05051E-06 None None None None I None 0 0 None 0 0 None 0 0 0 9.89371E-05 0
E/G 21161 Fn3-41 98 rs765979598 0.0987 None 0.189 N 0.527 0.109 0.221734844693 gnomAD-4.0.0 1.37998E-06 None None None None N None 0 0 None 0 0 None 0 0 9.05618E-07 0 1.6714E-05
E/K 21161 Fn3-41 98 rs753274370 0.1779 0.718 0.189 N 0.609 0.146 None gnomAD-2.1.1 1.13E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.49E-05 0
E/K 21161 Fn3-41 98 rs753274370 0.1779 0.718 0.189 N 0.609 0.146 None gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
E/K 21161 Fn3-41 98 rs753274370 0.1779 0.718 0.189 N 0.609 0.146 None gnomAD-4.0.0 2.99388E-05 None None None None N None 0 0 None 0 0 None 0 0 3.66393E-05 0 8.05932E-05
K/N 21356 Fn3-42 91 None 0.3016 None 0.883 N 0.621 0.116 0.199424873507 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 7.32654E-05
G/E 21457 Fn3-43 92 rs2049025749 0.3946 None 1.0 N 0.851 0.383 0.409124616982 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/R 21457 Fn3-43 92 None 0.69 None 1.0 N 0.806 0.39 0.53099781502 gnomAD-4.0.0 1.59274E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86157E-06 0 0
E/A 21750 Fn3-45 92 rs761034547 0.1743 0.185 0.799 N 0.579 0.229 0.300110245524 gnomAD-2.1.1 4.24E-06 None None None None N None 0 0 None 0 0 None 3.58E-05 None 0 0 0
E/A 21750 Fn3-45 92 rs761034547 0.1743 0.185 0.799 N 0.579 0.229 0.300110245524 gnomAD-4.0.0 1.64996E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.49522E-05 0
E/K 21750 Fn3-45 92 None 0.2844 None 0.799 N 0.617 0.234 0.278143212241 gnomAD-4.0.0 6.59988E-06 None None None None N None 0 0 None 0 0 None 0 0 8.92692E-06 1.4958E-05 0
D/N 21850 Fn3-46 94 rs2048279657 0.1593 None 0.954 N 0.789 0.277 0.326881540566 gnomAD-4.0.0 1.60414E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44781E-05 0
D/V 21850 Fn3-46 94 rs372750796 0.2705 0.447 0.954 N 0.837 0.351 None gnomAD-2.1.1 8.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.8E-05 0
D/V 21850 Fn3-46 94 rs372750796 0.2705 0.447 0.954 N 0.837 0.351 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
D/V 21850 Fn3-46 94 rs372750796 0.2705 0.447 0.954 N 0.837 0.351 None gnomAD-4.0.0 2.48629E-06 None None None None N None 0 0 None 0 0 None 0 0 3.3987E-06 0 0
K/E 22146 Fn3-48 92 rs2047865333 0.1335 None 0.688 N 0.498 0.228 0.198526703765 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/E 22146 Fn3-48 92 rs2047865333 0.1335 None 0.688 N 0.498 0.228 0.198526703765 gnomAD-4.0.0 6.57333E-06 None None None None I None 2.4122E-05 0 None 0 0 None 0 0 0 0 0
D/E 22248 Fn3-49 93 rs2047745662 0.13 None None N 0.124 0.102 0.107399877778 gnomAD-4.0.0 1.61291E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.05998E-05
D/E 22444 Fn3-50 91 None 0.1376 None 0.919 N 0.441 0.17 0.297031009988 gnomAD-4.0.0 6.84463E-07 None None None None N None 0 0 None 3.83024E-05 0 None 0 0 0 0 0
E/Q 22834 Fn3-53 92 rs557161476 0.1319 0.385 0.999 N 0.618 0.188 0.222439326576 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.93274E-04 None 0 0 0 0 0
E/Q 22834 Fn3-53 92 rs557161476 0.1319 0.385 0.999 N 0.618 0.188 0.222439326576 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 1E-03 0 None None None 0 None
E/Q 22834 Fn3-53 92 rs557161476 0.1319 0.385 0.999 N 0.618 0.188 0.222439326576 gnomAD-4.0.0 2.56394E-06 None None None None I None 0 0 None 0 4.86642E-05 None 0 0 0 0 0
E/K 22933 Fn3-54 93 None 0.1161 None 0.058 N 0.321 0.185 0.321951552304 gnomAD-4.0.0 1.59698E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86566E-06 0 0
E/G 23129 Fn3-55 90 rs755308234 0.1123 0.006 None N 0.222 0.168 0.310458034454 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
E/G 23129 Fn3-55 90 rs755308234 0.1123 0.006 None N 0.222 0.168 0.310458034454 gnomAD-4.0.0 1.36883E-05 None None None None N None 0 0 None 0 0 None 0 0 1.79941E-05 0 0
E/K 23129 Fn3-55 90 rs1394354671 0.1016 0.666 0.181 N 0.387 0.274 0.290590437066 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
E/K 23129 Fn3-55 90 rs1394354671 0.1016 0.666 0.181 N 0.387 0.274 0.290590437066 gnomAD-4.0.0 1.59245E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43386E-05 0
D/H 23332 Fn3-57 93 None 0.1691 None 0.087 N 0.288 0.062 0.132336055621 gnomAD-4.0.0 1.36872E-06 None None None None I None 2.98918E-05 0 None 0 0 None 0 0 8.99607E-07 0 0
E/G 23525 Fn3-58 91 rs1709774465 0.1747 None 0.521 N 0.522 0.334 0.391775403332 gnomAD-4.0.0 1.59151E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85914E-06 0 0
D/V 24016 Fn3-62 93 rs1709212928 0.1655 None 0.966 N 0.673 0.182 0.414539908741 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
D/V 24016 Fn3-62 93 rs1709212928 0.1655 None 0.966 N 0.673 0.182 0.414539908741 gnomAD-4.0.0 2.47932E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39109E-06 0 0
E/G 24212 Fn3-63 91 rs1708983044 0.0994 None 0.501 N 0.578 0.27 0.308904156042 gnomAD-4.0.0 5.8205E-06 None None None None N None 0 0 None 0 8.71283E-05 None 0 0 0 0 0
P/L 24313 Fn3-64 92 None 0.08 None 0.986 N 0.739 0.244 0.504848970537 gnomAD-4.0.0 6.1816E-06 None None None None N None 0 0 None 0 0 None 0 0 8.11946E-06 0 0
P/T 24313 Fn3-64 92 rs1306961227 0.0782 -0.847 0.986 N 0.781 0.345 0.347879110917 gnomAD-2.1.1 3.19E-05 None None None None N None 0 1.17924E-03 None 0 0 None 0 None 0 0 0
P/T 24313 Fn3-64 92 rs1306961227 0.0782 -0.847 0.986 N 0.781 0.345 0.347879110917 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
P/T 24313 Fn3-64 92 rs1306961227 0.0782 -0.847 0.986 N 0.781 0.345 0.347879110917 gnomAD-4.0.0 6.57575E-06 None None None None N None 0 6.55136E-05 None 0 0 None 0 0 0 0 0
G/A 24415 Fn3-65 93 rs776473891 0.2342 0.018 0.981 N 0.603 0.363 0.35139820857 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
G/A 24415 Fn3-65 93 rs776473891 0.2342 0.018 0.981 N 0.603 0.363 0.35139820857 gnomAD-4.0.0 1.36873E-06 None None None None N None 0 2.23694E-05 None 0 0 None 0 0 8.99588E-07 0 0
G/R 24415 Fn3-65 93 rs761774167 0.65 -0.351 0.995 N 0.817 0.416 0.465891899173 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
G/R 24415 Fn3-65 93 rs761774167 0.65 -0.351 0.995 N 0.817 0.416 0.465891899173 gnomAD-4.0.0 1.59215E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85953E-06 0 0
E/D 24609 Fn3-66 91 rs754097967 0.0732 0.024 None N 0.22 0.064 0.185906805712 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
E/D 24609 Fn3-66 91 rs754097967 0.0732 0.024 None N 0.22 0.064 0.185906805712 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93573E-04 None 0 0 0 0 0
E/D 24609 Fn3-66 91 rs754097967 0.0732 0.024 None N 0.22 0.064 0.185906805712 gnomAD-4.0.0 6.57376E-06 None None None None N None 0 0 None 0 1.93573E-04 None 0 0 0 0 0
E/K 24609 Fn3-66 91 rs55762754 0.2636 0.693 0.519 N 0.605 0.234 0.327686398923 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 8.92E-06 0
E/K 24609 Fn3-66 91 rs55762754 0.2636 0.693 0.519 N 0.605 0.234 0.327686398923 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93573E-04 None 0 0 0 0 0
E/K 24609 Fn3-66 91 rs55762754 0.2636 0.693 0.519 N 0.605 0.234 0.327686398923 gnomAD-4.0.0 1.86143E-06 None None None None N None 0 0 None 0 2.23684E-05 None 0 0 1.69765E-06 0 0
E/Q 24609 Fn3-66 91 rs55762754 0.1874 0.351 0.846 N 0.66 0.209 None gnomAD-2.1.1 3.33679E-03 None None None None N None 3.30743E-04 1.21924E-03 None 5.81734E-04 0 None 2.61746E-04 None 1.30187E-02 3.99837E-03 4.50958E-03
E/Q 24609 Fn3-66 91 rs55762754 0.1874 0.351 0.846 N 0.66 0.209 None gnomAD-3.1.2 3.02413E-03 None None None None N None 5.30837E-04 7.8637E-04 1.09649E-03 8.64553E-04 0 None 1.23329E-02 0 4.13223E-03 8.285E-04 2.87081E-03
E/Q 24609 Fn3-66 91 rs55762754 0.1874 0.351 0.846 N 0.66 0.209 None 1000 genomes 1.59744E-03 None None None None N None 0 0 None None 0 8E-03 None None None 0 None
E/Q 24609 Fn3-66 91 rs55762754 0.1874 0.351 0.846 N 0.66 0.209 None gnomAD-4.0.0 2.94478E-03 None None None None N None 4.13355E-04 1.11756E-03 None 6.08643E-04 0 None 1.32229E-02 8.27267E-04 3.02862E-03 3.95491E-04 2.78945E-03
E/V 24609 Fn3-66 91 None 0.2062 None 0.718 N 0.725 0.384 0.344017737713 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/A 24705 Fn3-67 90 rs751622854 0.2502 None 0.236 N 0.424 0.212 0.415313616471 gnomAD-4.0.0 6.84428E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99611E-07 0 0
V/E 24705 Fn3-67 90 rs751622854 0.5019 -0.16 0.002 N 0.372 0.337 0.516938183928 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
V/E 24705 Fn3-67 90 rs751622854 0.5019 -0.16 0.002 N 0.372 0.337 0.516938183928 gnomAD-4.0.0 6.84428E-07 None None None None I None 0 0 None 0 2.53011E-05 None 0 0 0 0 0
V/M 24705 Fn3-67 90 rs755082167 0.1449 -0.647 0.17 N 0.406 0.127 0.377799810692 gnomAD-2.1.1 8.07E-06 None None None None I None 0 0 None 0 5.63E-05 None 0 None 0 8.92E-06 0
V/M 24705 Fn3-67 90 rs755082167 0.1449 -0.647 0.17 N 0.406 0.127 0.377799810692 gnomAD-4.0.0 1.36888E-06 None None None None I None 0 0 None 0 2.53011E-05 None 0 0 0 0 1.65733E-05
G/R 25098 Fn3-70 93 rs747022529 0.7009 0.114 0.995 N 0.881 0.348 0.197625483188 gnomAD-2.1.1 2.01E-05 None None None None N None 0 8.7E-05 None 0 0 None 0 None 0 1.78E-05 0
G/R 25098 Fn3-70 93 rs747022529 0.7009 0.114 0.995 N 0.881 0.348 0.197625483188 gnomAD-4.0.0 9.55052E-06 None None None None N None 0 6.86028E-05 None 0 0 None 0 0 8.5777E-06 0 0
E/G 25294 Fn3-71 91 None 0.0903 None 0.682 N 0.619 0.172 0.314716216878 gnomAD-4.0.0 1.59206E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85928E-06 0 0
E/Q 25294 Fn3-71 91 None 0.0942 None 0.682 N 0.582 0.147 0.180583059064 gnomAD-4.0.0 1.59206E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85928E-06 0 0
A/V 25395 Fn3-72 92 rs1311650365 0.0699 None None N 0.125 0.109 0.198526703765 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
A/V 25395 Fn3-72 92 rs1311650365 0.0699 None None N 0.125 0.109 0.198526703765 gnomAD-4.0.0 6.578E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47132E-05 0 0
D/G 25691 Fn3-74 91 rs1296651230 0.169 -0.162 0.682 N 0.525 0.322 0.19670166235 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
D/G 25691 Fn3-74 91 rs1296651230 0.169 -0.162 0.682 N 0.525 0.322 0.19670166235 gnomAD-4.0.0 1.5923E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85982E-06 0 0
V/F 25787 Fn3-75 90 None 0.225 None 0.981 N 0.439 0.193 0.655950369022 gnomAD-4.0.0 6.84622E-07 None None None None I None 0 2.23814E-05 None 0 0 None 0 0 0 0 0
V/L 25787 Fn3-75 90 rs988340792 0.2305 None 0.203 N 0.343 0.118 0.230578612272 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/L 25787 Fn3-75 90 rs988340792 0.2305 None 0.203 N 0.343 0.118 0.230578612272 gnomAD-4.0.0 5.58049E-06 None None None None I None 0 0 None 0 0 None 0 0 7.63157E-06 0 0
E/D 26081 Fn3-77 92 rs768895653 0.1365 0.021 0.997 N 0.537 0.11 0.104622674875 gnomAD-2.1.1 8.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
E/D 26081 Fn3-77 92 rs768895653 0.1365 0.021 0.997 N 0.537 0.11 0.104622674875 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/D 26081 Fn3-77 92 rs768895653 0.1365 0.021 0.997 N 0.537 0.11 0.104622674875 gnomAD-4.0.0 1.30155E-05 None None None None I None 0 0 None 0 0 None 0 0 1.6107E-05 0 3.20318E-05
G/E 26180 Fn3-78 93 None 0.7288 None 0.465 N 0.669 0.348 0.257292322809 gnomAD-4.0.0 1.59751E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87033E-06 0 0
G/R 26180 Fn3-78 93 rs774781891 0.796 -0.128 0.995 N 0.835 0.271 0.427713192076 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
G/R 26180 Fn3-78 93 rs774781891 0.796 -0.128 0.995 N 0.835 0.271 0.427713192076 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/R 26180 Fn3-78 93 rs774781891 0.796 -0.128 0.995 N 0.835 0.271 0.427713192076 gnomAD-4.0.0 6.20683E-06 None None None None N None 0 0 None 0 0 None 0 3.29164E-04 5.94079E-06 0 1.6039E-05
A/E 26376 Fn3-79 91 rs397517714 0.1183 None 0.002 N 0.605 0.21 0.278968121808 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
A/E 26376 Fn3-79 91 rs397517714 0.1183 None 0.002 N 0.605 0.21 0.278968121808 gnomAD-4.0.0 1.23957E-06 None None None None N None 0 0 None 0 0 None 0 0 1.6954E-06 0 0
A/G 26376 Fn3-79 91 None 0.1126 None 0.361 N 0.659 0.032 0.222439326576 gnomAD-4.0.0 6.8427E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99546E-07 0 0
A/V 26376 Fn3-79 91 rs397517714 0.0733 0.37 0.001 N 0.269 0.09 0.305086939656 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
A/V 26376 Fn3-79 91 rs397517714 0.0733 0.37 0.001 N 0.269 0.09 0.305086939656 gnomAD-4.0.0 1.16326E-05 None None None None N None 0 0 None 0 0 None 0 0 1.52923E-05 0 0
V/I 26477 Fn3-80 92 rs1706005880 0.0705 None None N 0.103 0.081 0.282179105231 gnomAD-4.0.0 4.10615E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39726E-06 0 0
G/D 26579 Fn3-81 93 None 0.2715 None 0.176 N 0.59 0.179 0.143124449307 gnomAD-4.0.0 6.84322E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99535E-07 0 0
D/E 26773 Fn3-82 91 rs1036715959 0.1054 None 0.012 N 0.155 0.061 0.176091768786 gnomAD-4.0.0 6.84267E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99556E-07 0 0
D/N 26773 Fn3-82 91 None 0.1014 None 0.682 N 0.605 0.154 0.218845423259 gnomAD-4.0.0 6.84268E-07 None None None None I None 0 0 None 0 2.51927E-05 None 0 0 0 0 0
D/Y 26773 Fn3-82 91 None 0.2442 None 0.979 N 0.78 0.388 0.491248951702 gnomAD-4.0.0 6.84268E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99557E-07 0 0
V/A 26869 Fn3-83 90 None 0.3579 None None N 0.053 0.201 0.464183351471 gnomAD-4.0.0 6.00162E-06 None None None None I None 0 0 None 0 0 None 0 0 6.56252E-06 0 0
V/I 26869 Fn3-83 90 None 0.0823 None None N 0.067 0.136 0.517709844387 gnomAD-4.0.0 1.59183E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85941E-06 0 0
V/I 27560 Fn3-88 92 rs937165329 0.0669 -0.055 0.001 N 0.081 0.076 None 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
V/I 27560 Fn3-88 92 rs937165329 0.0669 -0.055 0.001 N 0.081 0.076 None gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
V/I 27560 Fn3-88 92 rs937165329 0.0669 -0.055 0.001 N 0.081 0.076 None gnomAD-4.0.0 1.97293E-05 None None None None N None 7.23938E-05 0 None 0 0 None 0 0 0 0 0
V/L 27560 Fn3-88 92 rs937165329 0.0871 None 0.001 N 0.096 0.095 0.186928172975 gnomAD-4.0.0 1.59146E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02462E-05
G/D 27662 Fn3-89 93 rs1704305205 0.2546 None 0.999 N 0.708 0.361 0.27132560031 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/R 27662 Fn3-89 93 None 0.4228 None 0.999 N 0.819 0.43 0.63454643552 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
E/K 28245 Fn3-93 92 rs1481882166 0.2386 None 0.191 N 0.552 0.209 0.239901079897 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
G/R 28344 Fn3-94 93 rs757065143 0.7552 -0.146 0.995 N 0.835 0.318 0.643776053401 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
G/R 28344 Fn3-94 93 rs757065143 0.7552 -0.146 0.995 N 0.835 0.318 0.643776053401 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/R 28344 Fn3-94 93 rs757065143 0.7552 -0.146 0.995 N 0.835 0.318 0.643776053401 gnomAD-4.0.0 6.57307E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47011E-05 0 0
P/R 28641 Fn3-96 92 None 0.1523 None 0.981 N 0.583 0.393 None gnomAD-4.0.0 1.59126E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85825E-06 0 0
D/N 28741 Fn3-97 91 rs1167302737 0.1106 0.474 0.986 N 0.737 0.229 0.216624796971 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
D/N 28741 Fn3-97 91 rs1167302737 0.1106 0.474 0.986 N 0.737 0.229 0.216624796971 gnomAD-4.0.0 1.59169E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
G/A 29427 Fn3-102 93 rs1188741659 0.5292 -0.298 0.853 N 0.62 0.263 0.228597637076 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
G/A 29427 Fn3-102 93 rs1188741659 0.5292 -0.298 0.853 N 0.62 0.263 0.228597637076 gnomAD-4.0.0 6.84265E-07 None None None None N None 0 0 None 0 2.52321E-05 None 0 0 0 0 0
G/E 29427 Fn3-102 93 rs1188741659 0.8415 None 0.953 N 0.819 0.41 0.346544149963 gnomAD-4.0.0 6.84265E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99444E-06 0 0
D/E 29623 Fn3-103 91 rs753493628 0.0818 0.027 None N 0.097 0.045 0.0482279557977 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
D/E 29623 Fn3-103 91 rs753493628 0.0818 0.027 None N 0.097 0.045 0.0482279557977 gnomAD-4.0.0 4.77591E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57604E-06 0 0
D/G 29623 Fn3-103 91 None 0.1012 None None N 0.131 0.169 0.168933306366 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 2.41313E-04 0 0 0
E/D 29724 Fn3-104 92 None 0.0621 None None N 0.198 0.051 0.124217242631 gnomAD-4.0.0 1.61543E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88017E-06 0 0
E/K 29724 Fn3-104 92 rs370918981 0.1326 -0.087 0.058 N 0.529 0.131 None gnomAD-2.1.1 1.47E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.38E-05 1.43885E-04
E/K 29724 Fn3-104 92 rs370918981 0.1326 -0.087 0.058 N 0.529 0.131 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.78011E-04
E/K 29724 Fn3-104 92 rs370918981 0.1326 -0.087 0.058 N 0.529 0.131 None gnomAD-4.0.0 1.68287E-05 None None None None N None 0 0 None 0 0 None 0 0 2.12378E-05 0 3.2175E-05
E/V 29826 Fn3-105 93 rs1345868585 0.1779 0.313 0.993 N 0.507 0.356 0.527709697666 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
E/V 29826 Fn3-105 93 rs1345868585 0.1779 0.313 0.993 N 0.507 0.356 0.527709697666 gnomAD-4.0.0 1.59277E-06 None None None None N None 0 2.28896E-05 None 0 0 None 0 0 0 0 0
E/K 30023 Fn3-106 91 None 0.1851 None 0.191 N 0.499 0.205 0.263140351381 gnomAD-4.0.0 1.59128E-06 None None None None N None 5.65227E-05 0 None 0 0 None 0 0 0 0 0
G/R 30118 Fn3-107 89 None 0.8652 None 0.981 N 0.609 0.356 0.720588202531 gnomAD-4.0.0 2.73687E-06 None None None None N None 8.96218E-05 0 None 0 0 None 0 1.7343E-04 0 0 0
K/N 30415 Fn3-109 92 None 0.5639 None 0.999 N 0.831 0.166 0.154104182512 gnomAD-4.0.0 1.39005E-06 None None None None I None 0 0 None 0 0 None 0 0 1.81873E-06 0 0
G/D 30513 Fn3-110 92 rs748076186 0.7624 0.422 1.0 N 0.735 0.321 0.265010934533 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 1.11982E-04 None 0 None 0 8.93E-06 0
G/D 30513 Fn3-110 92 rs748076186 0.7624 0.422 1.0 N 0.735 0.321 0.265010934533 gnomAD-4.0.0 6.84536E-06 None None None None N None 0 0 None 0 5.04923E-05 None 0 0 7.19747E-06 0 0
D/A 30709 Fn3-111 91 rs757178111 0.1091 0.241 0.518 N 0.528 0.2 0.31501682445 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/A 30709 Fn3-111 91 rs757178111 0.1091 0.241 0.518 N 0.528 0.2 0.31501682445 gnomAD-4.0.0 1.59256E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43357E-05 0
D/E 30709 Fn3-111 91 None 0.0938 None 0.007 N 0.217 0.073 0.0551355673512 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/S 30912 Fn3-113 92 rs1698262497 0.0863 None 0.068 N 0.107 0.135 0.0716867268079 gnomAD-4.0.0 3.18261E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71595E-06 0 0
S/F 31202 Fn3-115 90 rs868211733 0.2954 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
S/F 31202 Fn3-115 90 rs868211733 0.2954 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
S/F 31202 Fn3-115 90 rs868211733 0.2954 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-4.0.0 1.97195E-05 None None None None N None 7.23938E-05 0 None 0 0 None 0 0 0 0 0
R/I 31499 Fn3-117 92 None 0.5141 None 0.999 N 0.779 0.404 0.375861065471 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
G/D 31601 Fn3-118 96 rs1411032573 0.6933 -0.053 0.803 N 0.648 0.357 0.276482976112 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
G/D 31601 Fn3-118 96 rs1411032573 0.6933 -0.053 0.803 N 0.648 0.357 0.276482976112 gnomAD-4.0.0 1.59554E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43419E-05 0
G/S 31601 Fn3-118 96 rs768216139 0.3268 -0.485 0.999 N 0.832 0.326 0.286848849266 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
G/S 31601 Fn3-118 96 rs768216139 0.3268 -0.485 0.999 N 0.832 0.326 0.286848849266 gnomAD-4.0.0 1.59523E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43373E-05 0
E/K 31797 Fn3-119 90 rs1381214987 0.1037 None 0.1 N 0.546 0.137 0.192905019026 gnomAD-4.0.0 6.84261E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99533E-07 0 0
E/Q 31797 Fn3-119 90 rs1381214987 0.103 0.339 0.002 N 0.361 0.105 0.124217242631 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
E/Q 31797 Fn3-119 90 rs1381214987 0.103 0.339 0.002 N 0.361 0.105 0.124217242631 gnomAD-4.0.0 1.36852E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79907E-06 0 0
E/V 31797 Fn3-119 90 rs1183343848 0.1285 0.393 0.437 N 0.586 0.157 0.482283251092 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
E/V 31797 Fn3-119 90 rs1183343848 0.1285 0.393 0.437 N 0.586 0.157 0.482283251092 gnomAD-4.0.0 4.7745E-06 None None None None N None 0 2.28676E-05 None 0 0 None 0 0 2.85881E-06 0 3.0248E-05
N/S 31899 Fn3-120 93 None 0.0633 None 0.07 N 0.281 0.084 0.104622674875 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/P 32293 Fn3-123 92 rs200555813 0.1491 -0.014 0.999 N 0.735 0.38 None gnomAD-4.0.0 9.65802E-06 None None None None N None 0 0 None 0 0 None 0 0 1.26939E-05 0 0
K/N 32590 Fn3-125 92 None 0.3447 None 0.501 N 0.415 0.051 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/A 32886 Fn3-127 92 None 0.1269 None 0.799 N 0.547 0.119 0.229924730088 gnomAD-4.0.0 6.84682E-07 None None None None N None 2.99061E-05 0 None 0 0 None 0 0 0 0 0
E/G 32886 Fn3-127 92 rs1337530273 0.128 -0.506 0.012 N 0.525 0.155 0.227934060464 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
E/G 32886 Fn3-127 92 rs1337530273 0.128 -0.506 0.012 N 0.525 0.155 0.227934060464 gnomAD-4.0.0 1.36936E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80036E-06 0 0
E/K 32886 Fn3-127 92 rs767866367 0.121 0.425 0.799 N 0.507 0.14 0.221019684889 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
E/K 32886 Fn3-127 92 rs767866367 0.121 0.425 0.799 N 0.507 0.14 0.221019684889 gnomAD-4.0.0 1.59413E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43299E-05 0
E/D 32988 Fn3-128 93 rs1358375083 0.0899 None 0.058 N 0.277 0.035 0.107399877778 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/D 32988 Fn3-128 93 rs1358375083 0.0899 None 0.058 N 0.277 0.035 0.107399877778 gnomAD-4.0.0 6.57108E-06 None None None None I None 2.41324E-05 0 None 0 0 None 0 0 0 0 0
M/I 33089 Fn3-129 92 None 0.3183 None 0.016 N 0.391 0.08 0.492611691308 gnomAD-4.0.0 1.59438E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43715E-05 0
M/T 33089 Fn3-129 92 rs1445903275 0.1436 0.63 0.181 N 0.355 0.13 0.535054060289 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.96E-06 0
M/T 33089 Fn3-129 92 rs1445903275 0.1436 0.63 0.181 N 0.355 0.13 0.535054060289 gnomAD-4.0.0 1.59358E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02737E-05
M/V 33089 Fn3-129 92 rs1181148072 0.0786 0.456 None N 0.163 0.122 0.402614778071 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 1.00523E-04 0 None 0 None 0 0 0
M/V 33089 Fn3-129 92 rs1181148072 0.0786 0.456 None N 0.163 0.122 0.402614778071 gnomAD-4.0.0 4.78004E-06 None None None None I None 0 0 None 4.7824E-05 0 None 0 0 5.72279E-06 0 0
S/L 33382 Fn3-130 93 rs1212699230 0.3058 0.068 0.999 N 0.647 0.389 0.634587441147 gnomAD-2.1.1 4.04E-06 None None None None I None 6.49E-05 0 None 0 0 None 0 None 0 0 0
S/L 33382 Fn3-130 93 rs1212699230 0.3058 0.068 0.999 N 0.647 0.389 0.634587441147 gnomAD-4.0.0 6.84559E-07 None None None None I None 2.99025E-05 0 None 0 0 None 0 0 0 0 0
E/D 33483 Fn3-131 92 rs762690616 0.0936 -0.059 0.001 N 0.093 0.092 0.12205267543 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 9.81E-05 None 0 8.88E-06 0
E/D 33483 Fn3-131 92 rs762690616 0.0936 -0.059 0.001 N 0.093 0.092 0.12205267543 gnomAD-4.0.0 1.84754E-05 None None None None N None 2.98811E-05 0 None 0 0 None 0 0 1.52914E-05 9.27665E-05 1.65695E-05
E/K 33483 Fn3-131 92 rs368321767 0.144 None 0.335 N 0.399 0.193 0.218112801441 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 33483 Fn3-131 92 rs368321767 0.144 None 0.335 N 0.399 0.193 0.218112801441 gnomAD-4.0.0 6.57117E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
E/Q 33483 Fn3-131 92 rs368321767 0.1522 0.335 0.013 N 0.235 0.065 None gnomAD-2.1.1 1.92966E-04 None None None None N None 0 5.67E-05 None 0 0 None 9.82E-05 None 4E-05 3.5951E-04 2.81532E-04
E/Q 33483 Fn3-131 92 rs368321767 0.1522 0.335 0.013 N 0.235 0.065 None gnomAD-3.1.2 1.7085E-04 None None None None N None 2.41E-05 0 0 0 0 None 0 0 3.52765E-04 0 4.78011E-04
E/Q 33483 Fn3-131 92 rs368321767 0.1522 0.335 0.013 N 0.235 0.065 None gnomAD-4.0.0 3.03677E-04 None None None None N None 4.00491E-05 5.00317E-05 None 0 0 None 6.25489E-05 0 3.89064E-04 5.49016E-05 2.56221E-04
E/K 33778 Fn3-132 90 None 0.1634 None 0.345 N 0.558 0.209 0.325263233342 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0

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