Structural position:

  • Domain Type: Fn3
  • Aligned Position: 66
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand C'

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
D/N 15806 Fn3-2 49 rs773892971 0.0922 -0.255 0.117 N 0.28 0.148 0.244539031024 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
D/N 15806 Fn3-2 49 rs773892971 0.0922 -0.255 0.117 N 0.28 0.148 0.244539031024 gnomAD-4.0.0 6.84583E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99897E-07 0 0
D/Y 15806 Fn3-2 49 rs773892971 0.2785 0.087 0.741 N 0.381 0.234 0.432826170204 gnomAD-2.1.1 1.21E-05 None None None None N None 0 2.9E-05 None 0 0 None 6.54E-05 None 0 0 0
D/Y 15806 Fn3-2 49 rs773892971 0.2785 0.087 0.741 N 0.381 0.234 0.432826170204 gnomAD-4.0.0 4.1075E-06 None None None None N None 0 2.23754E-05 None 0 2.52334E-05 None 0 0 8.99897E-07 3.47891E-05 0
I/F 15907 Fn3-3 49 None 0.1639 None 0.002 N 0.147 0.159 0.318540980066 gnomAD-4.0.0 4.88482E-06 None None None None I None 0 0 None 0 0 None 0 0 6.35601E-06 0 0
T/I 16103 Fn3-4 49 None 0.1732 None 0.001 N 0.167 0.103 0.258283824007 gnomAD-4.0.0 6.84876E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0021E-07 0 0
T/S 16103 Fn3-4 49 rs1411572700 0.1011 None 0.003 N 0.158 0.088 0.115124310173 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/S 16103 Fn3-4 49 rs1411572700 0.1011 None 0.003 N 0.158 0.088 0.115124310173 gnomAD-4.0.0 6.58553E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47271E-05 0 0
H/Q 16399 Fn3-6 49 rs550330154 0.1442 0.198 0.966 N 0.457 0.299 0.235038932564 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 3.92003E-04 None 0 0 0 0 0
H/Q 16399 Fn3-6 49 rs550330154 0.1442 0.198 0.966 N 0.457 0.299 0.235038932564 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
H/Q 16399 Fn3-6 49 rs550330154 0.1442 0.198 0.966 N 0.457 0.299 0.235038932564 gnomAD-4.0.0 3.10083E-06 None None None None N None 0 0 None 0 8.9815E-05 None 0 0 0 0 1.60236E-05
H/Y 16399 Fn3-6 49 rs1194172632 0.0967 1.411 0.051 N 0.163 0.185 0.18995819373 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
H/Y 16399 Fn3-6 49 rs1194172632 0.0967 1.411 0.051 N 0.163 0.185 0.18995819373 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07641E-04 0
H/Y 16399 Fn3-6 49 rs1194172632 0.0967 1.411 0.051 N 0.163 0.185 0.18995819373 gnomAD-4.0.0 6.41662E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.70367E-05 0
V/F 16498 Fn3-7 49 None 0.2348 None 0.968 N 0.574 0.277 0.632114719573 gnomAD-4.0.0 6.84703E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0004E-07 0 0
V/I 16498 Fn3-7 49 rs781046006 0.0692 -0.117 0.011 N 0.202 0.085 0.297031009988 gnomAD-4.0.0 1.36941E-06 None None None None N None 0 0 None 0 0 None 0 0 9.0004E-07 1.16031E-05 0
V/I 16599 Fn3-8 49 rs1553699620 0.0909 None 0.543 N 0.25 0.123 0.448399296293 gnomAD-4.0.0 2.73846E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59921E-06 0 0
Q/R 16699 Fn3-9 49 None 0.5678 None 0.997 N 0.583 0.443 0.194818534648 gnomAD-4.0.0 1.59381E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86198E-06 0 0
V/G 16799 Fn3-10 49 rs1222977459 0.63 -1.14 1.0 N 0.769 0.501 0.84546926263 gnomAD-2.1.1 6.38E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.29702E-04 0
V/G 16799 Fn3-10 49 rs1222977459 0.63 -1.14 1.0 N 0.769 0.501 0.84546926263 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
V/G 16799 Fn3-10 49 rs1222977459 0.63 -1.14 1.0 N 0.769 0.501 0.84546926263 gnomAD-4.0.0 3.04531E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61522E-06 0 0
M/I 16900 Fn3-11 49 None 0.5167 None 0.985 N 0.514 0.344 0.41921206133 gnomAD-4.0.0 6.84504E-07 None None None None I None 0 0 None 0 2.52423E-05 None 0 0 0 0 0
M/V 16900 Fn3-11 49 rs2056323047 0.1813 None 0.985 N 0.411 0.356 0.383256108077 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
M/V 16900 Fn3-11 49 rs2056323047 0.1813 None 0.985 N 0.411 0.356 0.383256108077 gnomAD-4.0.0 6.57929E-06 None None None None I None 2.41324E-05 0 None 0 0 None 0 0 0 0 0
I/K 17095 Fn3-12 49 rs878877393 0.8744 None 0.934 N 0.409 0.392 0.712297760019 gnomAD-4.0.0 6.00161E-06 None None None None I None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
I/T 17095 Fn3-12 49 None 0.577 None 0.051 N 0.253 0.207 0.590758969589 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 3.66327E-05
I/V 17095 Fn3-12 49 None 0.1706 None 0.022 N 0.117 0.057 0.346315397577 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
K/N 17195 Fn3-13 49 None 0.3777 None 0.801 N 0.259 0.128 0.168933306366 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
I/T 17419 Fn3-14 51 rs1162756483 0.1759 -1.05 0.012 N 0.306 0.087 0.678712887374 gnomAD-2.1.1 1.07E-05 None None None None I None 4.14E-05 0 None 0 0 None 0 None 0 1.56E-05 0
I/T 17419 Fn3-14 51 rs1162756483 0.1759 -1.05 0.012 N 0.306 0.087 0.678712887374 gnomAD-3.1.2 1.32E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
I/T 17419 Fn3-14 51 rs1162756483 0.1759 -1.05 0.012 N 0.306 0.087 0.678712887374 gnomAD-4.0.0 5.58129E-06 None None None None I None 2.67265E-05 0 None 0 2.24225E-05 None 0 0 5.08807E-06 0 0
S/P 17517 Fn3-15 48 None 0.9225 None 0.784 N 0.338 0.253 0.266843984389 gnomAD-4.0.0 4.78289E-06 None None None None I None 0 0 None 0 0 None 0 0 8.58767E-06 0 0
R/S 17812 Fn3-17 49 None 0.9787 None 1.0 N 0.653 0.307 0.338110398507 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/Q 17910 Fn3-18 49 rs966575531 0.1188 None 0.294 N 0.246 0.186 0.229264304666 gnomAD-4.0.0 2.10121E-06 None None None None N None 0 0 None 0 0 None 0 0 1.83163E-06 0 1.71697E-05
E/D 18115 Fn3-19 51 None 0.2305 None 0.996 N 0.497 0.132 0.185906805712 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-06 0 0
E/K 18115 Fn3-19 51 rs2054377809 0.3843 None 0.996 N 0.527 0.304 0.255777322467 gnomAD-4.0.0 1.59571E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86633E-06 0 0
T/I 18527 Fn3-22 49 rs1344009252 0.1912 0.134 0.211 N 0.262 0.164 0.252162846088 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.63E-05 None 0 None 0 0 0
T/I 18527 Fn3-22 49 rs1344009252 0.1912 0.134 0.211 N 0.262 0.164 0.252162846088 gnomAD-4.0.0 6.8458E-06 None None None None N None 2.9915E-05 0 None 0 2.27687E-04 None 0 0 0 0 0
R/S 18632 Fn3-23 54 rs563589789 0.4777 0.186 0.027 N 0.434 0.191 0.124217242631 gnomAD-2.1.1 4.03E-06 None None None None I None 6.47E-05 0 None 0 0 None 0 None 0 0 0
R/S 18632 Fn3-23 54 rs563589789 0.4777 0.186 0.027 N 0.434 0.191 0.124217242631 gnomAD-3.1.2 2.63E-05 None None None None I None 9.66E-05 0 0 0 0 None 0 0 0 0 0
R/S 18632 Fn3-23 54 rs563589789 0.4777 0.186 0.027 N 0.434 0.191 0.124217242631 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
R/S 18632 Fn3-23 54 rs563589789 0.4777 0.186 0.027 N 0.434 0.191 0.124217242631 gnomAD-4.0.0 2.6304E-05 None None None None I None 9.63438E-05 0 None 0 0 None 0 0 0 0 0
R/T 18632 Fn3-23 54 None 0.2326 None 0.117 N 0.445 0.165 0.193865811164 gnomAD-4.0.0 2.73784E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59899E-06 0 0
V/I 18833 Fn3-24 50 rs1553665072 0.0841 None 0.863 N 0.501 0.186 0.566593488784 gnomAD-4.0.0 1.6052E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.46054E-05 0
T/I 19232 Fn3-27 50 rs376457991 0.1986 0.102 1.0 N 0.743 0.398 0.550885202691 gnomAD-2.1.1 8.34E-06 None None None None I None 0 0 None 0 0 None 6.88E-05 None 0 0 0
T/I 19232 Fn3-27 50 rs376457991 0.1986 0.102 1.0 N 0.743 0.398 0.550885202691 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
T/I 19232 Fn3-27 50 rs376457991 0.1986 0.102 1.0 N 0.743 0.398 0.550885202691 gnomAD-4.0.0 4.35269E-06 None None None None I None 0 0 None 0 0 None 0 0 0 4.45434E-05 4.81433E-05
T/N 19232 Fn3-27 50 rs376457991 0.1784 -0.549 1.0 N 0.749 0.358 None gnomAD-2.1.1 4.17E-06 None None None None I None 6.79E-05 0 None 0 0 None 0 None 0 0 0
T/N 19232 Fn3-27 50 rs376457991 0.1784 -0.549 1.0 N 0.749 0.358 None gnomAD-3.1.2 6.58E-06 None None None None I None 2.42E-05 0 0 0 0 None 0 0 0 0 0
T/N 19232 Fn3-27 50 rs376457991 0.1784 -0.549 1.0 N 0.749 0.358 None gnomAD-4.0.0 1.24372E-06 None None None None I None 1.33672E-05 0 None 0 0 None 0 0 8.49404E-07 0 0
H/Q 19332 Fn3-28 49 rs762362185 0.0982 -0.235 0.642 N 0.381 0.152 0.190952846119 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
H/Q 19332 Fn3-28 49 rs762362185 0.0982 -0.235 0.642 N 0.381 0.152 0.190952846119 gnomAD-4.0.0 6.57661E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47085E-05 0 0
H/Y 19332 Fn3-28 49 rs770403940 0.1024 1.125 0.002 N 0.148 0.137 0.17948927462 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
H/Y 19332 Fn3-28 49 rs770403940 0.1024 1.125 0.002 N 0.148 0.137 0.17948927462 gnomAD-4.0.0 1.59214E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85995E-06 0 0
M/T 19528 Fn3-29 50 None 0.2961 None 0.324 N 0.352 0.265 0.710242159801 gnomAD-4.0.0 3.60097E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 2.625E-06 0 0
A/T 19626 Fn3-30 48 rs371278320 0.0852 -0.774 0.062 N 0.407 0.176 None gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.66E-05 0
A/T 19626 Fn3-30 48 rs371278320 0.0852 -0.774 0.062 N 0.407 0.176 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 5.88E-05 0 0
A/T 19626 Fn3-30 48 rs371278320 0.0852 -0.774 0.062 N 0.407 0.176 None gnomAD-4.0.0 3.34718E-05 None None None None N None 0 0 None 0 0 None 0 0 4.40839E-05 0 3.20184E-05
A/V 19626 Fn3-30 48 None 0.1083 None None N 0.106 0.09 0.198526703765 gnomAD-4.0.0 1.59203E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43316E-05 0
R/K 19728 Fn3-31 49 None 0.0611 None None N 0.175 0.119 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
S/L 19925 Fn3-32 49 rs2050346497 0.0585 None None N 0.153 0.233 0.521653710555 gnomAD-3.1.2 6.58E-06 None None None None I None 2.42E-05 0 0 0 0 None 0 0 0 0 0
S/L 19925 Fn3-32 49 rs2050346497 0.0585 None None N 0.153 0.233 0.521653710555 gnomAD-4.0.0 6.58354E-06 None None None None I None 2.41721E-05 0 None 0 0 None 0 0 0 0 0
G/A 20220 Fn3-34 50 rs1273167845 0.1145 -0.133 1.0 N 0.629 0.317 0.327686398923 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
G/A 20220 Fn3-34 50 rs1273167845 0.1145 -0.133 1.0 N 0.629 0.317 0.327686398923 gnomAD-4.0.0 6.84362E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99614E-07 0 0
G/D 20220 Fn3-34 50 None 0.3299 None 1.0 N 0.717 0.356 0.418467456957 gnomAD-4.0.0 6.84362E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99614E-07 0 0
G/R 20220 Fn3-34 50 rs1342105365 0.3844 -0.323 1.0 N 0.657 0.347 0.401042353794 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/R 20220 Fn3-34 50 rs1342105365 0.3844 -0.323 1.0 N 0.657 0.347 0.401042353794 gnomAD-4.0.0 1.5921E-06 None None None None N None 0 2.2877E-05 None 0 0 None 0 0 0 0 0
V/A 20318 Fn3-35 48 rs1559584844 0.3673 None 0.78 N 0.499 0.241 0.498065138572 gnomAD-4.0.0 9.60257E-06 None None None None N None 0 0 None 0 0 None 0 0 1.05E-05 0 0
V/L 20318 Fn3-35 48 rs373150402 0.2315 -0.147 0.437 N 0.341 0.191 0.31077124679 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
V/M 20318 Fn3-35 48 rs373150402 0.1628 -0.26 0.968 N 0.545 0.241 None gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
V/M 20318 Fn3-35 48 rs373150402 0.1628 -0.26 0.968 N 0.545 0.241 None gnomAD-4.0.0 1.37455E-06 None None None None N None 3.0003E-05 0 None 0 0 None 0 0 9.03429E-07 0 0
N/H 20419 Fn3-36 49 None 0.0922 None 0.295 N 0.24 0.133 0.0401082797425 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
N/K 20419 Fn3-36 49 None 0.1687 None None N 0.071 0.103 0.0666544352282 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
S/P 20617 Fn3-37 49 rs1243949460 0.9509 0.098 0.984 N 0.487 0.3 0.391775403332 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
S/P 20617 Fn3-37 49 rs1243949460 0.9509 0.098 0.984 N 0.487 0.3 0.391775403332 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93949E-04 None 0 0 0 0 0
S/P 20617 Fn3-37 49 rs1243949460 0.9509 0.098 0.984 N 0.487 0.3 0.391775403332 gnomAD-4.0.0 3.84534E-06 None None None None N None 0 0 None 0 4.86547E-05 None 0 0 0 1.3403E-05 0
E/A 20716 Fn3-38 49 rs794729243 0.3645 None 0.989 N 0.583 0.425 0.417460480802 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
E/A 20716 Fn3-38 49 rs794729243 0.3645 None 0.989 N 0.583 0.425 0.417460480802 gnomAD-4.0.0 1.85953E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69546E-06 0 1.60128E-05
E/K 20716 Fn3-38 49 None 0.3872 None 0.978 N 0.572 0.336 0.359357374593 gnomAD-4.0.0 5.47496E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19673E-06 0 0
E/Q 20716 Fn3-38 49 rs548071435 0.2007 -0.373 0.889 N 0.276 0.158 0.304760801415 gnomAD-2.1.1 8.08E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
E/Q 20716 Fn3-38 49 rs548071435 0.2007 -0.373 0.889 N 0.276 0.158 0.304760801415 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
E/Q 20716 Fn3-38 49 rs548071435 0.2007 -0.373 0.889 N 0.276 0.158 0.304760801415 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
E/Q 20716 Fn3-38 49 rs548071435 0.2007 -0.373 0.889 N 0.276 0.158 0.304760801415 gnomAD-4.0.0 2.47921E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39097E-06 0 0
S/F 20912 Fn3-39 49 rs2049657792 0.7789 None 0.991 N 0.688 0.405 0.721781199316 gnomAD-4.0.0 2.74014E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59928E-06 0 0
V/D 21011 Fn3-40 49 rs1553639384 0.5843 None 1.0 N 0.761 0.487 0.787965464792 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
V/F 21011 Fn3-40 49 rs758606539 0.1659 -0.681 1.0 N 0.702 0.379 0.710150875617 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
V/F 21011 Fn3-40 49 rs758606539 0.1659 -0.681 1.0 N 0.702 0.379 0.710150875617 gnomAD-4.0.0 1.59243E-06 None None None None N None 0 2.28739E-05 None 0 0 None 0 0 0 0 0
V/I 21011 Fn3-40 49 None 0.0732 -0.094 0.997 N 0.482 0.254 0.516106911764 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
V/L 21011 Fn3-40 49 rs758606539 0.1769 None 0.997 N 0.541 0.305 0.617063767924 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
V/L 21011 Fn3-40 49 rs758606539 0.1769 None 0.997 N 0.541 0.305 0.617063767924 gnomAD-4.0.0 2.56417E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78962E-06 0 0
K/E 21117 Fn3-41 54 rs1400590737 0.2034 0.43 0.999 N 0.623 0.398 0.380901646489 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
K/E 21117 Fn3-41 54 rs1400590737 0.2034 0.43 0.999 N 0.623 0.398 0.380901646489 gnomAD-4.0.0 1.59297E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43353E-05 0
K/Q 21117 Fn3-41 54 None 0.1184 None 1.0 N 0.674 0.378 0.223847106136 gnomAD-4.0.0 1.59297E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86128E-06 0 0
S/L 21314 Fn3-42 49 rs776468606 0.1055 -0.052 0.064 N 0.295 0.147 0.421060224861 gnomAD-2.1.1 8.07E-06 None None None None N None 1.29266E-04 0 None 0 0 None 0 None 0 0 0
S/L 21314 Fn3-42 49 rs776468606 0.1055 -0.052 0.064 N 0.295 0.147 0.421060224861 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
S/L 21314 Fn3-42 49 rs776468606 0.1055 -0.052 0.064 N 0.295 0.147 0.421060224861 gnomAD-4.0.0 6.19968E-06 None None None None N None 2.67322E-05 0 None 0 0 None 0 0 6.78262E-06 0 0
S/P 21314 Fn3-42 49 None 0.8813 None 0.055 N 0.319 0.212 0.241078983079 gnomAD-4.0.0 6.84442E-06 None None None None N None 0 0 None 0 0 None 0 0 8.09698E-06 0 1.65733E-05
T/I 21416 Fn3-43 51 None 0.1876 None 1.0 N 0.717 0.375 0.370789594751 gnomAD-4.0.0 1.59261E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43303E-05 0
V/I 21608 Fn3-44 50 None 0.0724 None 0.014 N 0.254 0.132 0.498323335527 gnomAD-4.0.0 1.59195E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85982E-06 0 0
V/E 21805 Fn3-46 49 None 0.2094 None None N 0.351 0.295 0.499535901811 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
V/I 21805 Fn3-46 49 None 0.0763 None None N 0.182 0.119 0.349204839081 gnomAD-4.0.0 1.597E-06 None None None None N None 0 0 None 0 0 None 0 2.41663E-04 0 0 0
A/D 22004 Fn3-47 49 rs1379206431 0.9644 -1.056 0.988 N 0.729 0.434 0.442672919754 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
A/D 22004 Fn3-47 49 rs1379206431 0.9644 -1.056 0.988 N 0.729 0.434 0.442672919754 gnomAD-4.0.0 1.59316E-06 None None None None N None 0 2.28864E-05 None 0 0 None 0 0 0 0 0
A/T 22004 Fn3-47 49 None 0.4194 None 0.919 N 0.635 0.29 0.244539031024 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/A 22103 Fn3-48 49 rs1351683543 0.0797 -0.619 0.003 N 0.103 0.078 0.110078149338 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
T/A 22103 Fn3-48 49 rs1351683543 0.0797 -0.619 0.003 N 0.103 0.078 0.110078149338 gnomAD-4.0.0 1.36876E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.319E-05 0
T/I 22103 Fn3-48 49 rs1283761812 0.1331 0.141 0.213 N 0.289 0.168 0.254761474806 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
T/I 22103 Fn3-48 49 rs1283761812 0.1331 0.141 0.213 N 0.289 0.168 0.254761474806 gnomAD-4.0.0 6.36896E-06 None None None None N None 0 0 None 0 0 None 0 0 1.1441E-05 0 0
T/N 22103 Fn3-48 49 None 0.1256 None 0.002 N 0.186 0.119 0.215869574891 gnomAD-4.0.0 1.59224E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86025E-06 0 0
V/A 22204 Fn3-49 49 None 0.2926 None 0.309 N 0.253 0.11 0.408307896497 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
V/M 22204 Fn3-49 49 rs376238023 0.1556 -0.284 0.164 N 0.159 0.074 None gnomAD-2.1.1 8.07E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
V/M 22204 Fn3-49 49 rs376238023 0.1556 -0.284 0.164 N 0.159 0.074 None 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
V/M 22204 Fn3-49 49 rs376238023 0.1556 -0.284 0.164 N 0.159 0.074 None gnomAD-4.0.0 5.39495E-05 None None None None I None 0 0 None 0 2.24044E-05 None 0 0 7.20787E-05 0 1.60282E-05
S/A 22402 Fn3-50 49 None 0.0947 None 0.472 N 0.308 0.112 0.184867976434 gnomAD-4.0.0 6.84377E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99682E-07 0 0
S/T 22402 Fn3-50 49 None 0.0998 None 0.012 N 0.119 0.093 0.165133752707 gnomAD-4.0.0 6.84377E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99682E-07 0 0
V/L 22692 Fn3-52 50 rs545399178 0.2632 -0.306 0.08 N 0.333 0.075 0.440915056915 gnomAD-2.1.1 1.61E-05 None None None None N None 6.46E-05 2.9E-05 None 0 0 None 0 None 0 8.89E-06 1.65782E-04
V/L 22692 Fn3-52 50 rs545399178 0.2632 -0.306 0.08 N 0.333 0.075 0.440915056915 gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 2.94E-05 0 0
V/L 22692 Fn3-52 50 rs545399178 0.2632 -0.306 0.08 N 0.333 0.075 0.440915056915 gnomAD-4.0.0 4.95922E-06 None None None None N None 2.67158E-05 0 None 0 0 None 0 0 5.08688E-06 0 0
V/M 22692 Fn3-52 50 rs545399178 0.1615 -0.245 0.81 N 0.417 0.224 None 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
V/M 22692 Fn3-52 50 rs545399178 0.1615 -0.245 0.81 N 0.417 0.224 None gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
V/M 22692 Fn3-52 50 rs545399178 0.1615 -0.245 0.81 N 0.417 0.224 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
V/M 22692 Fn3-52 50 rs545399178 0.1615 -0.245 0.81 N 0.417 0.224 None gnomAD-4.0.0 1.85957E-06 None None None None N None 4.00085E-05 0 None 0 0 None 0 0 0 0 0
K/R 22791 Fn3-53 49 rs774260031 0.1 -0.077 0.822 N 0.496 0.239 0.18995819373 gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.56E-05 0
K/R 22791 Fn3-53 49 rs774260031 0.1 -0.077 0.822 N 0.496 0.239 0.18995819373 gnomAD-4.0.0 2.19053E-05 None None None None I None 0 0 None 0 0 None 0 0 2.87924E-05 0 0
I/K 23288 Fn3-57 49 None 0.1113 None 0.024 N 0.301 0.119 0.486851695374 gnomAD-4.0.0 6.86314E-06 None None None None N None 0 0 None 0 0 None 0 0 9.0087E-06 0 0
I/M 23288 Fn3-57 49 rs368867993 0.0836 -0.423 0.002 N 0.163 0.048 None gnomAD-2.1.1 1.45944E-04 None None None None N None 9.17661E-04 3.76157E-04 None 0 0 None 0 None 0 3.2E-05 1.43472E-04
I/M 23288 Fn3-57 49 rs368867993 0.0836 -0.423 0.002 N 0.163 0.048 None gnomAD-3.1.2 2.49829E-04 None None None None N None 7.23903E-04 1.96541E-04 0 0 0 None 0 0 4.41E-05 0 9.56938E-04
I/M 23288 Fn3-57 49 rs368867993 0.0836 -0.423 0.002 N 0.163 0.048 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
I/M 23288 Fn3-57 49 rs368867993 0.0836 -0.423 0.002 N 0.163 0.048 None gnomAD-4.0.0 1.00045E-04 None None None None N None 6.5594E-04 4.21258E-04 None 0 0 None 0 8.29738E-04 5.8571E-05 0 2.08728E-04
I/R 23288 Fn3-57 49 None 0.1111 None 0.055 N 0.373 0.143 0.499281839539 gnomAD-4.0.0 6.86314E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0087E-07 0 0
I/T 23288 Fn3-57 49 rs373121875 0.1243 -1.03 None N 0.213 0.084 None 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
S/Y 23483 Fn3-58 49 None 0.342 None 0.932 N 0.383 0.408 0.581503058331 gnomAD-4.0.0 1.59171E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85904E-06 0 0
T/I 23580 Fn3-59 49 rs779765346 0.1395 None 0.003 N 0.209 0.102 0.242244723065 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/I 23580 Fn3-59 49 rs779765346 0.1395 None 0.003 N 0.209 0.102 0.242244723065 gnomAD-4.0.0 6.5741E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47059E-05 0 0
T/S 23580 Fn3-59 49 rs779765346 0.0975 -0.702 0.166 N 0.252 0.06 0.170165803431 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
T/S 23580 Fn3-59 49 rs779765346 0.0975 -0.702 0.166 N 0.252 0.06 0.170165803431 gnomAD-4.0.0 1.36861E-05 None None None None N None 0 0 None 0 0 None 0 0 1.61919E-05 0 3.31367E-05
V/L 23775 Fn3-60 50 rs377491708 0.1279 -0.219 0.041 N 0.187 0.035 None gnomAD-2.1.1 1.22E-05 None None None None I None 6.48E-05 0 None 0 0 None 0 None 0 1.8E-05 0
V/L 23775 Fn3-60 50 rs377491708 0.1279 -0.219 0.041 N 0.187 0.035 None gnomAD-4.0.0 1.09579E-05 None None None None I None 0 0 None 0 0 None 0 0 1.44018E-05 0 0
Q/E 23874 Fn3-61 49 None 0.117 None 0.78 N 0.443 0.179 0.165133752707 gnomAD-4.0.0 1.59168E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85941E-06 0 0
Q/H 23874 Fn3-61 49 rs779839196 0.2126 -0.688 0.995 N 0.523 0.28 0.195762928549 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
Q/H 23874 Fn3-61 49 rs779839196 0.2126 -0.688 0.995 N 0.523 0.28 0.195762928549 gnomAD-4.0.0 1.59166E-06 None None None None I None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
Q/R 23874 Fn3-61 49 None 0.2088 None 0.946 N 0.505 0.286 0.163833314356 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
L/P 23972 Fn3-62 49 None 0.9539 None 0.983 N 0.702 0.434 0.779625626859 gnomAD-4.0.0 1.59211E-06 None None None None N None 0 2.28686E-05 None 0 0 None 0 0 0 0 0
L/Q 23972 Fn3-62 49 None 0.212 None 0.983 N 0.679 0.396 0.685036625371 gnomAD-4.0.0 1.59211E-06 None None None None N None 0 0 None 0 2.78133E-05 None 0 0 0 0 0
T/I 24171 Fn3-63 50 rs1365291247 0.5398 None 0.998 N 0.691 0.419 0.44770609447 gnomAD-4.0.0 5.83419E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01046E-05 0 0
I/T 24270 Fn3-64 49 None 0.2493 None 0.062 N 0.349 0.226 0.532696708436 gnomAD-4.0.0 7.08956E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.31007E-05 0
Q/H 24371 Fn3-65 49 None 0.1146 None None N 0.114 0.078 0.130388298395 gnomAD-4.0.0 2.05351E-06 None None None None N None 0 0 None 0 0 None 0 0 2.6991E-06 0 0
Q/K 24371 Fn3-65 49 rs1319568037 0.0527 None None N 0.087 0.14 0.0551355673512 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
Q/K 24371 Fn3-65 49 rs1319568037 0.0527 None None N 0.087 0.14 0.0551355673512 gnomAD-4.0.0 1.23995E-05 None None None None N None 0 0 None 0 0 None 0 0 1.6957E-05 0 0
S/A 24567 Fn3-66 49 rs1415840930 0.0725 -0.441 0.086 N 0.199 0.092 0.126345400529 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
S/A 24567 Fn3-66 49 rs1415840930 0.0725 -0.441 0.086 N 0.199 0.092 0.126345400529 gnomAD-4.0.0 6.84665E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00041E-07 0 0
S/P 24567 Fn3-66 49 None 0.9713 None 0.999 N 0.737 0.281 0.303453137403 gnomAD-4.0.0 2.054E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.47947E-05 0
A/G 24664 Fn3-67 49 rs928815429 0.1421 None None N 0.117 0.124 0.180583059064 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/G 24664 Fn3-67 49 rs928815429 0.1421 None None N 0.117 0.124 0.180583059064 gnomAD-4.0.0 6.57531E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47072E-05 0 0
Q/K 24857 Fn3-68 50 rs766557412 0.1709 0.058 0.324 N 0.302 0.172 0.119812018005 gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 0 0 None 1.30864E-04 None 0 0 0
Q/K 24857 Fn3-68 50 rs766557412 0.1709 0.058 0.324 N 0.302 0.172 0.119812018005 gnomAD-4.0.0 6.15993E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99601E-07 9.27708E-05 0
Q/L 24857 Fn3-68 50 None 0.1483 None 0.324 N 0.346 0.205 0.445711490874 gnomAD-4.0.0 6.8443E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99591E-07 0 0
Q/R 24857 Fn3-68 50 rs763178333 0.2061 0.181 0.324 N 0.3 0.118 0.12205267543 gnomAD-2.1.1 8.09E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
Q/R 24857 Fn3-68 50 rs763178333 0.2061 0.181 0.324 N 0.3 0.118 0.12205267543 gnomAD-4.0.0 1.36886E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31927E-05 0
V/I 24956 Fn3-69 49 rs375784858 0.0777 -0.155 None N 0.161 0.068 None 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
V/I 24956 Fn3-69 49 rs375784858 0.0777 -0.155 None N 0.161 0.068 None gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
M/I 25054 Fn3-70 49 rs1410088991 0.5644 0.263 0.007 N 0.164 0.117 0.377097596864 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
T/R 25352 Fn3-72 49 rs1318162597 0.5426 -0.236 0.89 N 0.555 0.319 0.500931478032 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
T/R 25352 Fn3-72 49 rs1318162597 0.5426 -0.236 0.89 N 0.555 0.319 0.500931478032 gnomAD-4.0.0 4.7762E-06 None None None None I None 0 0 None 0 0 None 0 2.41779E-04 0 2.86582E-05 0
T/S 25352 Fn3-72 49 None 0.1603 None 0.058 N 0.288 0.133 0.107399877778 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/I 25453 Fn3-73 49 rs1272812744 0.0872 None 0.473 N 0.323 0.127 0.379193981924 gnomAD-4.0.0 4.79098E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29701E-06 0 0
T/K 25453 Fn3-73 49 rs1272812744 0.1315 None 0.006 N 0.172 0.151 0.357724736475 gnomAD-3.1.2 6.58E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
T/K 25453 Fn3-73 49 rs1272812744 0.1315 None 0.006 N 0.172 0.151 0.357724736475 gnomAD-4.0.0 1.85984E-06 None None None None N None 1.33604E-05 0 None 3.38021E-05 0 None 0 0 8.47745E-07 0 0
A/T 25649 Fn3-74 49 None 0.0943 None 0.805 N 0.447 0.11 0.207176502487 gnomAD-4.0.0 1.37102E-06 None None None None N None 3.00012E-05 0 None 0 0 None 0 0 9.0043E-07 0 0
S/L 25746 Fn3-75 49 None 0.1009 None 0.989 N 0.571 0.403 0.485991781493 gnomAD-4.0.0 6.84455E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99617E-07 0 0
S/P 25746 Fn3-75 49 None 0.8928 None 0.999 N 0.703 0.367 0.307016933798 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
D/A 25939 Fn3-76 50 rs397517712 0.152 -0.358 0.005 N 0.284 0.116 0.244539031024 gnomAD-2.1.1 2.14E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.91E-05 1.40726E-04
D/A 25939 Fn3-76 50 rs397517712 0.152 -0.358 0.005 N 0.284 0.116 0.244539031024 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
D/A 25939 Fn3-76 50 rs397517712 0.152 -0.358 0.005 N 0.284 0.116 0.244539031024 gnomAD-4.0.0 4.71075E-05 None None None None N None 1.33572E-05 0 None 0 0 None 0 0 6.18836E-05 0 3.20328E-05
D/E 25939 Fn3-76 50 None 0.0922 None None N 0.092 0.124 0.0297737177859 gnomAD-4.0.0 6.84336E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99573E-07 0 0
T/A 26038 Fn3-77 49 None 0.0925 None 0.919 N 0.512 0.232 0.17258766438 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
T/R 26038 Fn3-77 49 rs749204661 0.282 -0.094 0.994 N 0.717 0.392 0.535102873643 gnomAD-2.1.1 4.84E-05 None None None None N None 0 0 None 0 0 None 3.92285E-04 None 0 0 0
T/R 26038 Fn3-77 49 rs749204661 0.282 -0.094 0.994 N 0.717 0.392 0.535102873643 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.13907E-04 0
T/R 26038 Fn3-77 49 rs749204661 0.282 -0.094 0.994 N 0.717 0.392 0.535102873643 gnomAD-4.0.0 2.2936E-05 None None None None N None 0 0 None 0 0 None 0 0 0 4.06245E-04 0
M/I 26136 Fn3-78 49 None 0.6895 None 0.007 N 0.148 0.168 0.506432333661 gnomAD-4.0.0 1.59486E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02994E-05
M/T 26136 Fn3-78 49 rs1454726736 0.6158 0.042 0.684 N 0.321 0.4 0.659672427465 gnomAD-2.1.1 8.07E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 8.93E-06 0
M/T 26136 Fn3-78 49 rs1454726736 0.6158 0.042 0.684 N 0.321 0.4 0.659672427465 gnomAD-4.0.0 6.37853E-06 None None None None N None 1.13289E-04 0 None 0 0 None 0 0 5.73339E-06 0 0
T/I 26335 Fn3-79 50 None 0.7025 None 0.994 N 0.741 0.493 0.56369308836 gnomAD-4.0.0 1.59182E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02554E-05
T/S 26335 Fn3-79 50 None 0.4177 None 0.234 N 0.325 0.251 0.232513804876 gnomAD-4.0.0 3.18364E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.8659E-05 0
I/T 26434 Fn3-80 49 None 0.2393 None None N 0.181 0.156 0.536661227952 gnomAD-4.0.0 3.18402E-06 None None None None I None 0 0 None 0 2.77809E-05 None 0 0 2.85889E-06 0 0
A/D 26731 Fn3-82 49 rs1410996977 0.7451 None 0.884 N 0.451 0.312 0.487772906946 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
A/D 26731 Fn3-82 49 rs1410996977 0.7451 None 0.884 N 0.451 0.312 0.487772906946 gnomAD-4.0.0 6.57644E-06 None None None None N None 0 6.56168E-05 None 0 0 None 0 0 0 0 0
A/P 26731 Fn3-82 49 rs1451227084 0.9257 -0.173 0.939 D 0.439 0.3 0.302793454619 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
A/T 26731 Fn3-82 49 None 0.0779 None 0.028 N 0.249 0.098 0.141422826196 gnomAD-4.0.0 1.59163E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85909E-06 0 0
S/N 26828 Fn3-83 49 None 0.0814 None None N 0.177 0.072 0.152612264143 gnomAD-4.0.0 2.05283E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79913E-06 1.15937E-05 0
S/R 26828 Fn3-83 49 rs886055243 0.4537 None 0.171 N 0.449 0.157 0.0806252709748 gnomAD-4.0.0 4.77485E-06 None None None None N None 0 0 None 0 0 None 0 0 8.5776E-06 0 0
H/Y 27021 Fn3-84 50 None 0.101 None 0.065 N 0.269 0.073 0.215869574891 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
V/I 27120 Fn3-85 49 rs1015972053 0.0709 None None N 0.157 0.182 0.319402600006 gnomAD-4.0.0 7.53498E-06 None None None None N None 0 0 None 0 0 None 0 0 9.90129E-06 0 0
M/T 27218 Fn3-86 49 rs1332904652 0.5873 None 0.007 N 0.22 0.295 0.57631073843 gnomAD-4.0.0 2.40065E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62501E-06 0 0
T/I 27418 Fn3-87 50 rs750733161 0.4215 -0.024 0.919 N 0.597 0.356 0.394536629495 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
T/I 27418 Fn3-87 50 rs750733161 0.4215 -0.024 0.919 N 0.597 0.356 0.394536629495 gnomAD-4.0.0 2.73694E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59803E-06 0 0
T/S 27418 Fn3-87 50 None 0.3154 None 0.979 N 0.515 0.293 0.285698343383 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
T/I 27517 Fn3-88 49 rs1559321324 0.1352 None 0.032 N 0.257 0.133 0.202949470691 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
T/I 27517 Fn3-88 49 rs1559321324 0.1352 None 0.032 N 0.257 0.133 0.202949470691 gnomAD-4.0.0 1.36843E-06 None None None None N None 0 0 None 0 2.51991E-05 None 0 0 8.99484E-07 0 0
T/N 27517 Fn3-88 49 None 0.189 None 0.942 N 0.517 0.253 0.245660935333 gnomAD-4.0.0 2.73685E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59794E-06 0 0
A/D 27814 Fn3-90 49 rs769623982 0.8077 -0.069 0.884 N 0.41 0.366 0.568180043242 gnomAD-2.1.1 8.5E-06 None None None None N None 0 6.25E-05 None 0 0 None 0 None 0 0 0
A/D 27814 Fn3-90 49 rs769623982 0.8077 -0.069 0.884 N 0.41 0.366 0.568180043242 gnomAD-4.0.0 2.0775E-06 None None None None N None 0 4.79157E-05 None 0 0 None 0 0 0 1.21139E-05 0
A/G 27814 Fn3-90 49 None 0.2401 None 0.521 N 0.416 0.254 0.432716982437 gnomAD-4.0.0 6.92501E-07 None None None None N None 0 0 None 0 0 None 0 0 9.05287E-07 0 0
A/P 27814 Fn3-90 49 rs772828081 0.9367 -0.027 0.939 N 0.41 0.287 0.481616744073 gnomAD-2.1.1 8.5E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.84E-05 0
A/P 27814 Fn3-90 49 rs772828081 0.9367 -0.027 0.939 N 0.41 0.287 0.481616744073 gnomAD-4.0.0 4.1551E-06 None None None None N None 0 0 None 0 0 None 0 0 5.43179E-06 0 0
S/N 27911 Fn3-91 49 rs1704021353 0.1016 None 0.351 N 0.191 0.111 0.194818534648 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
S/N 27911 Fn3-91 49 rs1704021353 0.1016 None 0.351 N 0.191 0.111 0.194818534648 gnomAD-4.0.0 6.57168E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
H/Q 28103 Fn3-92 49 rs749278779 0.0892 0.145 None N 0.049 0.13 0.0401082797425 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
H/Q 28103 Fn3-92 49 rs749278779 0.0892 0.145 None N 0.049 0.13 0.0401082797425 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
H/Q 28103 Fn3-92 49 rs749278779 0.0892 0.145 None N 0.049 0.13 0.0401082797425 gnomAD-4.0.0 3.84412E-06 None None None None I None 0 5.08613E-05 None 0 0 None 0 0 0 0 0
S/P 28202 Fn3-93 49 None 0.8525 None 0.301 N 0.329 0.142 0.152612264143 gnomAD-4.0.0 1.5923E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02535E-05
S/T 28202 Fn3-93 49 rs747544266 0.0623 -0.057 None N 0.125 0.123 0.0551355673512 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 4.66E-05 0 0
L/P 28300 Fn3-94 49 rs1703551325 0.9645 None 0.998 N 0.779 0.462 0.76634211205 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
L/P 28300 Fn3-94 49 rs1703551325 0.9645 None 0.998 N 0.779 0.462 0.76634211205 gnomAD-4.0.0 6.57246E-06 None None None None N None 2.41324E-05 0 None 0 0 None 0 0 0 0 0
T/K 28499 Fn3-95 50 rs1703270570 0.2356 None 0.988 N 0.677 0.437 0.561103792788 gnomAD-4.0.0 6.84306E-07 None None None None I None 0 0 None 0 0 None 0 1.7337E-04 0 0 0
T/I 29186 Fn3-100 50 rs755409023 0.118 None None N 0.175 0.125 0.273938319068 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
T/I 29383 Fn3-102 49 rs2154155238 0.1533 None 0.062 N 0.297 0.166 0.292062946507 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
T/S 29383 Fn3-102 49 rs2154155238 0.1172 None 0.001 N 0.101 0.083 0.0762999501168 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
S/C 29582 Fn3-103 50 None 0.2549 None 1.0 N 0.679 0.383 0.583395719892 gnomAD-4.0.0 1.59102E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85776E-06 0 0
T/I 29782 Fn3-105 49 rs1400626224 0.0968 None 0.001 N 0.176 0.101 0.209622950755 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/I 29782 Fn3-105 49 rs1400626224 0.0968 None 0.001 N 0.176 0.101 0.209622950755 gnomAD-4.0.0 6.57281E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46998E-05 0 0
T/S 29782 Fn3-105 49 None 0.0986 None 0.09 N 0.301 0.077 0.104622674875 gnomAD-4.0.0 1.59114E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
S/P 29981 Fn3-106 49 rs1279876422 0.8836 -0.087 0.815 N 0.364 0.278 0.312306559268 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
S/P 29981 Fn3-106 49 rs1279876422 0.8836 -0.087 0.815 N 0.364 0.278 0.312306559268 gnomAD-4.0.0 3.18521E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71595E-06 0 0
K/N 30273 Fn3-108 50 rs1307577297 0.7887 None 1.0 N 0.729 0.323 0.228597637076 gnomAD-4.0.0 3.18286E-06 None None None None N None 0 0 None 0 0 None 0 0 5.7171E-06 0 0
V/M 30469 Fn3-110 48 None 0.0917 None 0.093 N 0.37 0.068 0.115124310173 gnomAD-4.0.0 3.18384E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8592E-06 1.43312E-05 0
A/T 30668 Fn3-111 50 None 0.1663 None 1.0 N 0.669 0.359 0.290962096972 gnomAD-4.0.0 1.59143E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85863E-06 0 0
V/A 30767 Fn3-112 49 rs1698403843 0.4902 None 0.999 D 0.619 0.313 0.666729369348 gnomAD-4.0.0 4.77318E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57358E-06 0 0
Q/H 31064 Fn3-114 49 None 0.2242 None 0.999 N 0.562 0.214 0.202949470691 gnomAD-4.0.0 2.16058E-05 None None None None N None 0 0 None 0 0 None 0 0 2.3625E-05 0 0
Q/P 31064 Fn3-114 49 None 0.6955 None 0.999 N 0.558 0.503 0.433600339574 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
V/M 31456 Fn3-117 49 rs1559156264 0.1466 None 0.983 N 0.527 0.27 0.571728244252 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.87E-06 0
V/M 31456 Fn3-117 49 rs1559156264 0.1466 None 0.983 N 0.527 0.27 0.571728244252 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
V/M 31456 Fn3-117 49 rs1559156264 0.1466 None 0.983 N 0.527 0.27 0.571728244252 gnomAD-4.0.0 2.56218E-06 None None None None I None 1.6913E-05 0 None 0 0 None 0 0 2.393E-06 0 0
T/I 31855 Fn3-120 49 rs1696674198 0.1651 None 1.0 N 0.782 0.446 0.426551566703 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/I 31855 Fn3-120 49 rs1696674198 0.1651 None 1.0 N 0.782 0.446 0.426551566703 gnomAD-4.0.0 2.56253E-06 None None None None N None 0 0 None 0 0 None 0 0 2.39344E-06 1.34009E-05 0
Y/H 31957 Fn3-121 49 rs1302879352 0.0935 -0.001 0.741 N 0.548 0.303 0.350964488264 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
Y/H 31957 Fn3-121 49 rs1302879352 0.0935 -0.001 0.741 N 0.548 0.303 0.350964488264 gnomAD-4.0.0 1.59135E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
K/Q 32153 Fn3-122 49 rs761414958 0.2065 -0.02 1.0 N 0.711 0.408 0.248417906384 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
K/Q 32153 Fn3-122 49 rs761414958 0.2065 -0.02 1.0 N 0.711 0.408 0.248417906384 gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 0 None 0 0 0 4.13565E-04 0
K/Q 32153 Fn3-122 49 rs761414958 0.2065 -0.02 1.0 N 0.711 0.408 0.248417906384 gnomAD-4.0.0 6.19788E-06 None None None None I None 0 0 None 0 0 None 0 0 8.4764E-07 9.88121E-05 0
K/T 32153 Fn3-122 49 None 0.3937 None 1.0 N 0.713 0.512 0.329540904979 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.92604E-04 None 0 0 0 0 0
K/T 32153 Fn3-122 49 None 0.3937 None 1.0 N 0.713 0.512 0.329540904979 gnomAD-4.0.0 6.5697E-06 None None None None I None 0 0 None 0 1.92604E-04 None 0 0 0 0 0
M/I 32250 Fn3-123 49 rs866570041 0.4012 None 0.27 N 0.289 0.14 0.480801007081 gnomAD-3.1.2 1.32E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
M/I 32250 Fn3-123 49 rs866570041 0.4012 None 0.27 N 0.289 0.14 0.480801007081 gnomAD-4.0.0 1.31515E-05 None None None None I None 2.41488E-05 0 None 0 0 None 0 0 1.47037E-05 0 0
V/I 32547 Fn3-125 49 rs1694457387 0.0732 None 0.012 N 0.195 0.099 0.327952845175 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/N 32648 Fn3-126 49 rs775309560 0.1563 -0.56 1.0 D 0.721 0.366 None gnomAD-2.1.1 8.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
T/N 32648 Fn3-126 49 rs775309560 0.1563 -0.56 1.0 D 0.721 0.366 None gnomAD-3.1.2 1.32E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 1.47E-05 0 0
T/N 32648 Fn3-126 49 rs775309560 0.1563 -0.56 1.0 D 0.721 0.366 None gnomAD-4.0.0 1.42537E-05 None None None None N None 4.00769E-05 1.66728E-05 None 0 0 None 0 0 1.52572E-05 0 1.60118E-05
T/P 32648 Fn3-126 49 rs762198397 0.7337 -0.298 1.0 N 0.721 0.525 0.500488203797 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
T/P 32648 Fn3-126 49 rs762198397 0.7337 -0.298 1.0 N 0.721 0.525 0.500488203797 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85824E-06 0 0
Y/C 32844 Fn3-127 50 None 0.2887 None 0.217 N 0.331 0.215 0.495773158881 gnomAD-4.0.0 3.18231E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85824E-06 1.43271E-05 0
Y/N 32844 Fn3-127 50 None 0.3024 None 0.999 N 0.635 0.477 0.624848976157 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/L 32945 Fn3-128 50 None 0.4237 None 0.997 N 0.545 0.32 0.418221603839 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 33046 Fn3-129 49 rs778078915 0.8168 -0.219 1.0 N 0.733 0.303 0.207176502487 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
K/N 33046 Fn3-129 49 rs778078915 0.8168 -0.219 1.0 N 0.733 0.303 0.207176502487 gnomAD-4.0.0 1.59134E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8585E-06 0 0
K/R 33046 Fn3-129 49 rs749815808 0.1036 None 0.999 N 0.611 0.355 0.349429436713 gnomAD-4.0.0 2.05265E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69846E-06 0 0
K/T 33046 Fn3-129 49 None 0.5841 None 1.0 N 0.717 0.529 0.344251166708 gnomAD-4.0.0 6.84216E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99488E-07 0 0
Q/K 33340 Fn3-130 51 rs558954116 0.1346 -0.385 0.001 N 0.108 0.164 0.101711395817 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 0 None 3.29E-05 None 0 3.57E-05 1.66389E-04
Q/K 33340 Fn3-130 51 rs558954116 0.1346 -0.385 0.001 N 0.108 0.164 0.101711395817 gnomAD-3.1.2 3.94E-05 None None None None N None 0 1.3101E-04 0 0 0 None 0 0 5.88E-05 0 0
Q/K 33340 Fn3-130 51 rs558954116 0.1346 -0.385 0.001 N 0.108 0.164 0.101711395817 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
Q/K 33340 Fn3-130 51 rs558954116 0.1346 -0.385 0.001 N 0.108 0.164 0.101711395817 gnomAD-4.0.0 1.23976E-05 None None None None N None 0 5.00668E-05 None 0 0 None 0 4.94886E-04 9.32561E-06 1.09926E-05 3.20246E-05
Q/P 33340 Fn3-130 51 rs1691940311 0.8386 None 0.523 N 0.336 0.368 0.273070737957 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
Q/P 33340 Fn3-130 51 rs1691940311 0.8386 None 0.523 N 0.336 0.368 0.273070737957 gnomAD-4.0.0 6.57229E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47011E-05 0 0
L/F 33737 Fn3-132 49 rs1690979679 0.3828 None 0.37 N 0.51 0.145 0.156986980423 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

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.