Structural position:
- Domain Type: Fn3
- Aligned Position: 118
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 15741 |
Fn3-1 |
85 | rs779498799 |
0.5415 | -0.691 | 1.0 | D | 0.691 | 0.635 | 0.461323234107 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/A | 15741 |
Fn3-1 |
85 | rs779498799 |
0.5415 | -0.691 | 1.0 | D | 0.691 | 0.635 | 0.461323234107 | gnomAD-4.0.0 | 6.3728E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-05 | None | 0 | 0 | 0 | 4.30034E-05 | 0 |
| S/G | 16238 |
Fn3-5 |
84 | rs2057023163 |
0.1236 | None | 0.104 | N | 0.437 | 0.086 | 0.152612264143 | gnomAD-4.0.0 | 2.09737E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7403E-06 | 0 | 0 |
| G/A | 16434 |
Fn3-6 |
84 | None | 0.7306 | None | 1.0 | D | 0.693 | 0.62 | 0.463586170655 | 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 | 16434 |
Fn3-6 |
84 | rs775667867 |
0.9567 | -0.943 | 1.0 | D | 0.845 | 0.545 | 0.752200549989 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | 16434 |
Fn3-6 |
84 | rs775667867 |
0.995 | None | 1.0 | D | 0.912 | 0.513 | 0.704045212085 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.84E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | 16434 |
Fn3-6 |
84 | rs775667867 |
0.995 | None | 1.0 | D | 0.912 | 0.513 | 0.704045212085 | gnomAD-4.0.0 | 1.31752E-05 | None | None | None | None | N | None | 4.83536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | 16634 |
Fn3-8 |
84 | rs2056591982 |
0.2114 | None | 0.999 | N | 0.752 | 0.289 | 0.243972157842 | gnomAD-4.0.0 | 1.59424E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86248E-06 | 0 | 0 |
| S/N | 16634 |
Fn3-8 |
84 | None | 0.9474 | None | 0.999 | D | 0.742 | 0.347 | 0.414930877219 | gnomAD-4.0.0 | 1.59424E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43439E-05 | 0 |
| S/G | 16734 |
Fn3-9 |
84 | rs1227059346 |
0.1821 | None | 0.104 | N | 0.461 | 0.102 | 0.0762999501168 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | 16734 |
Fn3-9 |
84 | rs1227059346 |
0.1821 | None | 0.104 | N | 0.461 | 0.102 | 0.0762999501168 | gnomAD-4.0.0 | 6.5825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47206E-05 | 0 | 0 |
| G/A | 16835 |
Fn3-10 |
85 | None | 0.9191 | None | 1.0 | D | 0.699 | 0.668 | 0.481172606772 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43509E-05 | 0 |
| G/S | 16835 |
Fn3-10 |
85 | None | 0.8803 | None | 1.0 | N | 0.815 | 0.466 | 0.350746614512 | 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/R | 16937 |
Fn3-11 |
86 | rs780845171 |
0.9986 | -1.036 | 1.0 | D | 0.791 | 0.435 | 0.306695030598 | 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 |
| S/R | 16937 |
Fn3-11 |
86 | rs780845171 |
0.9986 | -1.036 | 1.0 | D | 0.791 | 0.435 | 0.306695030598 | gnomAD-4.0.0 | 6.16119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.2773E-05 | 1.65799E-05 |
| G/E | 17130 |
Fn3-12 |
84 | None | 0.9849 | None | 1.0 | D | 0.905 | 0.768 | 0.658024896457 | 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 | 17130 |
Fn3-12 |
84 | None | 0.9865 | None | 1.0 | D | 0.911 | 0.761 | 0.780977608258 | 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/N | 17231 |
Fn3-13 |
85 | rs944587802 |
0.9778 | None | 0.334 | D | 0.73 | 0.345 | 0.342865806769 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94704E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 17231 |
Fn3-13 |
85 | rs944587802 |
0.9778 | None | 0.334 | D | 0.73 | 0.345 | 0.342865806769 | gnomAD-4.0.0 | 4.06015E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.14233E-04 | None | 0 | 0 | 2.41009E-06 | 0 | 3.40044E-05 |
| S/T | 17231 |
Fn3-13 |
85 | rs944587802 |
0.8487 | None | 0.334 | D | 0.706 | 0.374 | 0.332386209738 | 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/D | 17454 |
Fn3-14 |
86 | None | 0.9946 | None | 1.0 | D | 0.849 | 0.834 | 0.529561333529 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| G/E | 17553 |
Fn3-15 |
84 | rs746747781 |
0.9933 | -1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | gnomAD-2.1.1 | 8.29E-06 | None | None | None | None | N | None | 1.32345E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | 17553 |
Fn3-15 |
84 | rs746747781 |
0.9933 | -1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | 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 |
| G/E | 17553 |
Fn3-15 |
84 | rs746747781 |
0.9933 | -1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | gnomAD-4.0.0 | 1.86856E-06 | None | None | None | None | N | None | 4.02015E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | 17653 |
Fn3-16 |
85 | rs2055283494 |
0.9877 | None | 1.0 | N | 0.911 | 0.567 | 0.595244198341 | 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 |
| G/E | 17653 |
Fn3-16 |
85 | rs2055283494 |
0.9877 | None | 1.0 | N | 0.911 | 0.567 | 0.595244198341 | gnomAD-4.0.0 | 2.0303E-06 | None | None | None | None | N | None | 1.74807E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40252E-05 |
| G/R | 17653 |
Fn3-16 |
85 | rs766366983 |
0.9928 | -0.877 | 1.0 | N | 0.919 | 0.619 | 0.692127427503 | 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 |
| G/R | 17653 |
Fn3-16 |
85 | rs766366983 |
0.9928 | -0.877 | 1.0 | N | 0.919 | 0.619 | 0.692127427503 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| G/C | 17846 |
Fn3-17 |
83 | rs1559733949 |
0.9813 | None | 1.0 | D | 0.863 | 0.779 | 0.585109566412 | gnomAD-4.0.0 | 1.37003E-06 | None | None | None | None | N | None | 5.99449E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | 17846 |
Fn3-17 |
83 | rs1296371746 |
0.9968 | -1.556 | 1.0 | D | 0.856 | 0.777 | 0.509996732195 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | 17846 |
Fn3-17 |
83 | rs1296371746 |
0.9968 | -1.556 | 1.0 | D | 0.856 | 0.777 | 0.509996732195 | gnomAD-4.0.0 | 1.59548E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78164E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | 17846 |
Fn3-17 |
83 | rs1559733949 |
0.7763 | None | 1.0 | N | 0.805 | 0.596 | 0.353125101423 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | 17846 |
Fn3-17 |
83 | rs1559733949 |
0.7763 | None | 1.0 | N | 0.805 | 0.596 | 0.353125101423 | gnomAD-4.0.0 | 6.85015E-07 | None | None | None | None | N | None | 2.99724E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 17946 |
Fn3-18 |
85 | rs1283273656 |
0.9507 | -1.462 | 0.999 | D | 0.737 | 0.341 | 0.366659145958 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | 17946 |
Fn3-18 |
85 | rs1283273656 |
0.7937 | -1.044 | 0.999 | N | 0.737 | 0.373 | 0.350307294319 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12461E-04 | None | 0 | None | 0 | 0 | 0 |
| S/T | 17946 |
Fn3-18 |
85 | rs1283273656 |
0.7937 | -1.044 | 0.999 | N | 0.737 | 0.373 | 0.350307294319 | gnomAD-4.0.0 | 1.59761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78598E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | 18255 |
Fn3-20 |
90 | None | 0.8624 | None | 0.969 | D | 0.699 | 0.585 | 0.442567846599 | gnomAD-4.0.0 | 6.85044E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00398E-07 | 0 | 0 |
| G/S | 18255 |
Fn3-20 |
90 | rs762872466 |
0.5984 | -1.332 | 0.996 | N | 0.842 | 0.457 | 0.321108458156 | 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 |
| G/S | 18255 |
Fn3-20 |
90 | rs762872466 |
0.5984 | -1.332 | 0.996 | N | 0.842 | 0.457 | 0.321108458156 | gnomAD-4.0.0 | 1.59559E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86733E-06 | 0 | 0 |
| S/F | 18358 |
Fn3-21 |
87 | None | 0.9906 | None | 1.0 | N | 0.923 | 0.509 | 0.66541518217 | gnomAD-4.0.0 | 1.59326E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86172E-06 | 0 | 0 |
| G/D | 18562 |
Fn3-22 |
84 | None | 0.9959 | None | 1.0 | D | 0.868 | 0.759 | 0.528614029291 | gnomAD-4.0.0 | 1.37787E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80884E-06 | 0 | 0 |
| S/R | 18668 |
Fn3-23 |
90 | None | 0.9976 | None | 1.0 | N | 0.87 | 0.53 | 0.389126455913 | 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 |
| G/A | 18972 |
Fn3-25 |
89 | rs755417012 |
0.8423 | -0.397 | 1.0 | D | 0.709 | 0.652 | 0.509228182784 | 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 |
| G/A | 18972 |
Fn3-25 |
89 | rs755417012 |
0.8423 | -0.397 | 1.0 | D | 0.709 | 0.652 | 0.509228182784 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | 19072 |
Fn3-26 |
85 | None | 0.9866 | None | 1.0 | N | 0.935 | 0.585 | 0.760441356224 | 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/D | 19368 |
Fn3-28 |
85 | rs772445847 |
0.9943 | -2.075 | 1.0 | D | 0.838 | 0.574 | 0.525716358561 | gnomAD-4.0.0 | 1.61572E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90165E-06 | 0 | 0 |
| S/N | 19563 |
Fn3-29 |
85 | rs759628569 |
0.9697 | -1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.95E-06 | 0 |
| S/N | 19563 |
Fn3-29 |
85 | rs759628569 |
0.9697 | -1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/N | 19563 |
Fn3-29 |
85 | rs759628569 |
0.9697 | -1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-4.0.0 | 1.79818E-05 | None | None | None | None | N | None | 0 | 1.66962E-05 | None | 0 | 0 | None | 0 | 0 | 2.20433E-05 | 1.09876E-05 | 1.60241E-05 |
| G/E | 19663 |
Fn3-30 |
85 | None | 0.9891 | None | 1.0 | D | 0.939 | 0.592 | 0.610882576163 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| G/C | 19960 |
Fn3-32 |
84 | None | 0.8849 | None | 0.999 | D | 0.824 | 0.546 | 0.778462375712 | gnomAD-4.0.0 | 6.84536E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99661E-07 | 0 | 0 |
| G/R | 20059 |
Fn3-33 |
83 | rs778467153 |
0.9773 | None | 0.497 | N | 0.799 | 0.333 | 0.376216005999 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 0 |
| G/S | 20059 |
Fn3-33 |
83 | None | 0.0796 | -1.179 | None | N | 0.441 | 0.217 | 0.0297737177859 | 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/S | 20059 |
Fn3-33 |
83 | None | 0.0796 | -1.179 | None | N | 0.441 | 0.217 | 0.0297737177859 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 0 |
| G/S | 20255 |
Fn3-34 |
85 | rs1248970109 |
0.443 | -1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | 20255 |
Fn3-34 |
85 | rs1248970109 |
0.443 | -1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | 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/S | 20255 |
Fn3-34 |
85 | rs1248970109 |
0.443 | -1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | gnomAD-4.0.0 | 2.56367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.4273E-05 | None | 0 | 0 | 2.39451E-06 | 0 | 0 |
| G/S | 20456 |
Fn3-36 |
86 | rs756873840 |
0.3846 | -1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-2.1.1 | 1.83E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.95E-05 | 1.89394E-04 |
| G/S | 20456 |
Fn3-36 |
86 | rs756873840 |
0.3846 | -1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | 20456 |
Fn3-36 |
86 | rs756873840 |
0.3846 | -1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-4.0.0 | 2.15646E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9252E-05 | 0 | 0 |
| G/R | 20651 |
Fn3-37 |
83 | rs1488229576 |
0.9982 | -0.704 | 1.0 | D | 0.906 | 0.621 | 0.674012052925 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | 21047 |
Fn3-40 |
85 | None | 0.9887 | None | 1.0 | D | 0.91 | 0.592 | 0.553955064939 | gnomAD-4.0.0 | 1.75548E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.09853E-06 | 0 | 0 |
| S/R | 21450 |
Fn3-43 |
85 | None | 0.9988 | None | 0.991 | N | 0.759 | 0.459 | 0.371718192555 | 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 |
| S/T | 21450 |
Fn3-43 |
85 | None | 0.905 | None | 0.969 | D | 0.711 | 0.396 | 0.335910606209 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 0 | 0 |
| S/T | 21743 |
Fn3-45 |
85 | None | 0.8589 | None | 0.98 | N | 0.742 | 0.345 | 0.309530620856 | gnomAD-4.0.0 | 6.89624E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06193E-07 | 0 | 0 |
| S/G | 21843 |
Fn3-46 |
87 | None | 0.4931 | None | 0.999 | N | 0.737 | 0.286 | 0.227260227426 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56252E-06 | 0 | 0 |
| S/N | 21843 |
Fn3-46 |
87 | rs2154179160 |
0.9784 | None | 0.999 | D | 0.725 | 0.398 | 0.391470661076 | gnomAD-4.0.0 | 1.59594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03361E-05 |
| S/R | 21843 |
Fn3-46 |
87 | None | 0.9987 | None | 1.0 | N | 0.865 | 0.519 | 0.458917189328 | gnomAD-4.0.0 | 6.8508E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00155E-07 | 0 | 0 |
| G/D | 22139 |
Fn3-48 |
85 | rs1559507734 |
0.9922 | None | 1.0 | D | 0.875 | 0.717 | 0.569670436194 | gnomAD-4.0.0 | 8.21329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9968E-06 | 0 | 3.31488E-05 |
| G/R | 22139 |
Fn3-48 |
85 | rs774227311 |
0.9951 | -0.97 | 1.0 | N | 0.921 | 0.727 | 0.563655836063 | 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 |
| G/R | 22139 |
Fn3-48 |
85 | rs774227311 |
0.9951 | -0.97 | 1.0 | N | 0.921 | 0.727 | 0.563655836063 | gnomAD-4.0.0 | 2.05331E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69903E-06 | 0 | 0 |
| S/R | 22241 |
Fn3-49 |
86 | rs778956602 |
0.9984 | -0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 8.95E-06 | 0 |
| S/R | 22241 |
Fn3-49 |
86 | rs778956602 |
0.9984 | -0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | 22241 |
Fn3-49 |
86 | rs778956602 |
0.9984 | -0.679 | 0.97 | N | 0.773 | 0.424 | 0.312608672186 | gnomAD-4.0.0 | 8.69015E-06 | None | None | None | None | N | None | 1.33419E-05 | 0 | None | 0 | 6.72073E-05 | None | 0 | 0 | 5.94273E-06 | 1.09999E-05 | 3.20904E-05 |
| G/A | 22437 |
Fn3-50 |
84 | None | 0.9008 | None | 1.0 | D | 0.695 | 0.751 | 0.458554320643 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| G/D | 22437 |
Fn3-50 |
84 | None | 0.996 | None | 1.0 | D | 0.877 | 0.771 | 0.526232973257 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| G/R | 22437 |
Fn3-50 |
84 | rs794727434 |
0.9968 | -0.934 | 1.0 | D | 0.911 | 0.773 | 0.52468985305 | 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 |
| G/R | 22437 |
Fn3-50 |
84 | rs794727434 |
0.9968 | -0.934 | 1.0 | D | 0.911 | 0.773 | 0.52468985305 | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88487E-05 | 0 | 0 | 0 | 0 |
| G/S | 22437 |
Fn3-50 |
84 | rs794727434 |
0.7291 | -1.112 | 1.0 | N | 0.807 | 0.598 | 0.349870743963 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | 22437 |
Fn3-50 |
84 | rs794727434 |
0.7291 | -1.112 | 1.0 | N | 0.807 | 0.598 | 0.349870743963 | gnomAD-4.0.0 | 2.56412E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.43049E-05 | None | 0 | 0 | 0 | 0 | 2.84592E-05 |
| G/V | 22727 |
Fn3-52 |
85 | rs2047052144 |
0.9626 | None | 1.0 | D | 0.906 | 0.591 | 0.752597319067 | 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 |
| G/V | 22727 |
Fn3-52 |
85 | rs2047052144 |
0.9626 | None | 1.0 | D | 0.906 | 0.591 | 0.752597319067 | gnomAD-4.0.0 | 6.57756E-06 | None | None | None | None | N | None | 0 | 6.55308E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | 22827 |
Fn3-53 |
85 | rs781403843 |
0.2725 | -1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | I | None | 0 | 2.03004E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | 22827 |
Fn3-53 |
85 | rs781403843 |
0.2725 | -1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | 22827 |
Fn3-53 |
85 | rs781403843 |
0.2725 | -1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-4.0.0 | 9.29906E-06 | None | None | None | None | I | None | 0 | 1.50085E-04 | None | 0 | 0 | None | 0 | 4.93908E-04 | 0 | 1.09837E-05 | 3.20359E-05 |
| S/N | 22926 |
Fn3-54 |
86 | rs958609992 |
0.9841 | None | 0.822 | D | 0.759 | 0.324 | 0.256793551483 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99696E-07 | 1.16117E-05 | 0 |
| S/R | 22926 |
Fn3-54 |
86 | rs753624630 |
0.9989 | -0.821 | 0.942 | D | 0.815 | 0.422 | 0.352262096564 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | 22926 |
Fn3-54 |
86 | rs753624630 |
0.9989 | -0.821 | 0.942 | D | 0.815 | 0.422 | 0.352262096564 | gnomAD-4.0.0 | 3.18609E-06 | None | None | None | None | N | None | 0 | 4.57792E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | 23223 |
Fn3-56 |
85 | None | 0.9468 | None | 1.0 | D | 0.875 | 0.6 | 0.85179336191 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69867E-06 | 0 | 0 |
| G/R | 23325 |
Fn3-57 |
86 | rs371871513 |
0.9889 | -0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | 23325 |
Fn3-57 |
86 | rs371871513 |
0.9889 | -0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | 23325 |
Fn3-57 |
86 | rs371871513 |
0.9889 | -0.856 | 0.997 | D | 0.919 | 0.58 | 0.681910643822 | gnomAD-4.0.0 | 3.84632E-06 | None | None | None | None | I | None | 5.07546E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | 23325 |
Fn3-57 |
86 | None | 0.9891 | None | 0.997 | D | 0.915 | 0.582 | 0.773170903684 | gnomAD-4.0.0 | 1.59281E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43484E-05 | 0 |
| G/A | 23518 |
Fn3-58 |
84 | None | 0.8464 | None | 1.0 | D | 0.703 | 0.737 | 0.454426139905 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8591E-06 | 0 | 0 |
| S/G | 23614 |
Fn3-59 |
83 | None | 0.2197 | None | 0.099 | N | 0.443 | 0.142 | 0.0920862733494 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 23614 |
Fn3-59 |
83 | None | 0.9671 | None | 0.841 | D | 0.716 | 0.306 | 0.301455362545 | gnomAD-4.0.0 | 2.0531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69871E-06 | 0 | 0 |
| S/T | 23614 |
Fn3-59 |
83 | rs1237254642 |
0.8332 | -1.05 | 0.636 | D | 0.702 | 0.371 | 0.253726318573 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/T | 23614 |
Fn3-59 |
83 | rs1237254642 |
0.8332 | -1.05 | 0.636 | D | 0.702 | 0.371 | 0.253726318573 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 0 | 0 |
| G/V | 23810 |
Fn3-60 |
85 | None | 0.9881 | None | 1.0 | D | 0.927 | 0.77 | 0.738310842359 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43423E-05 | 0 |
| S/N | 23910 |
Fn3-61 |
85 | rs1060500509 |
0.9073 | -1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | 23910 |
Fn3-61 |
85 | rs1060500509 |
0.9073 | -1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| S/N | 23910 |
Fn3-61 |
85 | rs1060500509 |
0.9073 | -1.392 | 0.334 | D | 0.736 | 0.369 | 0.21279746466 | gnomAD-4.0.0 | 2.4792E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.38203E-05 | 0 | None | 0 | 1.64582E-04 | 0 | 0 | 3.20277E-05 |
| S/N | 24009 |
Fn3-62 |
86 | rs188711353 |
0.9744 | -1.221 | 0.999 | D | 0.709 | 0.296 | 0.353125101423 | 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 |
| S/N | 24009 |
Fn3-62 |
86 | rs188711353 |
0.9744 | -1.221 | 0.999 | D | 0.709 | 0.296 | 0.353125101423 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| S/T | 24009 |
Fn3-62 |
86 | rs188711353 |
0.7576 | -0.721 | 0.999 | D | 0.703 | 0.313 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/T | 24009 |
Fn3-62 |
86 | rs188711353 |
0.7576 | -0.721 | 0.999 | D | 0.703 | 0.313 | None | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 5.65803E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 24306 |
Fn3-64 |
85 | rs762318997 |
0.7136 | -1.109 | 0.969 | N | 0.711 | 0.379 | 0.26169431596 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.05E-06 | 0 |
| S/T | 24306 |
Fn3-64 |
85 | rs762318997 |
0.7136 | -1.109 | 0.969 | N | 0.711 | 0.379 | 0.26169431596 | gnomAD-4.0.0 | 1.60921E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8938E-06 | 0 | 0 |
| G/R | 24408 |
Fn3-65 |
86 | rs1386903866 |
0.9917 | None | 1.0 | D | 0.929 | 0.61 | 0.766891864429 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| G/R | 24602 |
Fn3-66 |
84 | rs758124616 |
0.9989 | -1.007 | 1.0 | D | 0.958 | 0.655 | 0.761929420907 | 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 |
| G/R | 24602 |
Fn3-66 |
84 | rs758124616 |
0.9989 | -1.007 | 1.0 | D | 0.958 | 0.655 | 0.761929420907 | gnomAD-4.0.0 | 1.59648E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8715E-06 | 0 | 0 |
| S/I | 24698 |
Fn3-67 |
83 | rs769515743 |
0.9979 | -0.117 | 1.0 | D | 0.911 | 0.525 | 0.782365095754 | 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 |
| S/I | 24698 |
Fn3-67 |
83 | rs769515743 |
0.9979 | -0.117 | 1.0 | D | 0.911 | 0.525 | 0.782365095754 | gnomAD-4.0.0 | 3.18486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71935E-06 | 0 | 0 |
| S/N | 24698 |
Fn3-67 |
83 | rs769515743 |
0.989 | -1.4 | 0.998 | D | 0.733 | 0.417 | 0.330331372229 | 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 |
| S/N | 24698 |
Fn3-67 |
83 | rs769515743 |
0.989 | -1.4 | 0.998 | D | 0.733 | 0.417 | 0.330331372229 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85968E-06 | 0 | 0 |
| S/R | 24892 |
Fn3-68 |
85 | None | 0.9986 | None | 0.983 | D | 0.795 | 0.483 | 0.343101102393 | gnomAD-4.0.0 | 6.84352E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 0 | 0 |
| S/T | 24892 |
Fn3-68 |
85 | rs1190621446 |
0.8404 | -1.085 | 0.944 | D | 0.707 | 0.369 | 0.368183359018 | 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 |
| S/T | 24892 |
Fn3-68 |
85 | rs1190621446 |
0.8404 | -1.085 | 0.944 | D | 0.707 | 0.369 | 0.368183359018 | gnomAD-4.0.0 | 3.18406E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71893E-06 | 0 | 0 |
| S/G | 25091 |
Fn3-70 |
86 | rs886609420 |
0.3671 | -1.655 | 0.892 | N | 0.689 | 0.238 | 0.141422826196 | 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 |
| S/G | 25091 |
Fn3-70 |
86 | rs886609420 |
0.3671 | -1.655 | 0.892 | N | 0.689 | 0.238 | 0.141422826196 | 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 |
| S/G | 25091 |
Fn3-70 |
86 | rs886609420 |
0.3671 | -1.655 | 0.892 | N | 0.689 | 0.238 | 0.141422826196 | gnomAD-4.0.0 | 3.71881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08636E-06 | 0 | 0 |
| G/D | 25288 |
Fn3-71 |
85 | None | 0.9896 | None | 1.0 | D | 0.899 | 0.712 | 0.537080035296 | 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 |
| S/R | 25388 |
Fn3-72 |
85 | rs1707543874 |
0.9963 | None | 0.939 | N | 0.781 | 0.411 | 0.301455362545 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66354E-05 |
| S/T | 25388 |
Fn3-72 |
85 | None | 0.718 | None | 0.815 | N | 0.7 | 0.385 | 0.317958651998 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| S/N | 25780 |
Fn3-75 |
83 | rs555798738 |
0.9781 | -1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | 25780 |
Fn3-75 |
83 | rs555798738 |
0.9781 | -1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | 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 |
| S/N | 25780 |
Fn3-75 |
83 | rs555798738 |
0.9781 | -1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | 25780 |
Fn3-75 |
83 | rs555798738 |
0.9781 | -1.54 | 0.998 | D | 0.74 | 0.353 | 0.469333501611 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | 26074 |
Fn3-77 |
85 | None | 0.99 | None | 1.0 | D | 0.882 | 0.805 | 0.56903317303 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| G/S | 26074 |
Fn3-77 |
85 | None | 0.2385 | None | 1.0 | N | 0.816 | 0.597 | 0.368183359018 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | 26074 |
Fn3-77 |
85 | None | 0.9903 | None | 1.0 | D | 0.898 | 0.819 | 0.74841305917 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| S/R | 26173 |
Fn3-78 |
86 | rs771241552 |
0.999 | -0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 0 |
| S/R | 26173 |
Fn3-78 |
86 | rs771241552 |
0.999 | -0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | 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 |
| S/R | 26173 |
Fn3-78 |
86 | rs771241552 |
0.999 | -0.923 | 1.0 | D | 0.863 | 0.523 | 0.309530620856 | gnomAD-4.0.0 | 5.58303E-05 | None | None | None | None | N | None | 2.67065E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.296E-05 | 0 | 3.20626E-05 |
| G/A | 26370 |
Fn3-79 |
85 | None | 0.8053 | None | 1.0 | D | 0.7 | 0.709 | 0.453307948783 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99551E-07 | 0 | 0 |
| G/E | 26370 |
Fn3-79 |
85 | rs727505061 |
0.9972 | None | 1.0 | D | 0.933 | 0.805 | 0.72796072516 | gnomAD-4.0.0 | 4.10562E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.3973E-06 | 0 | 0 |
| G/A | 26572 |
Fn3-81 |
86 | None | 0.6438 | None | 0.983 | N | 0.696 | 0.531 | 0.281381271821 | gnomAD-4.0.0 | 3.18391E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86558E-05 | 0 |
| G/A | 26766 |
Fn3-82 |
84 | rs753017013 |
0.8101 | -0.617 | 1.0 | D | 0.697 | 0.804 | 0.511735687887 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67038E-04 | None | 0 | None | 0 | 0 | 0 |
| G/A | 26766 |
Fn3-82 |
84 | rs753017013 |
0.8101 | -0.617 | 1.0 | D | 0.697 | 0.804 | 0.511735687887 | gnomAD-4.0.0 | 6.84276E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 26862 |
Fn3-83 |
83 | rs929588706 |
0.9396 | -1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | 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 |
| S/N | 26862 |
Fn3-83 |
83 | rs929588706 |
0.9396 | -1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| S/N | 26862 |
Fn3-83 |
83 | rs929588706 |
0.9396 | -1.472 | 0.998 | D | 0.738 | 0.425 | 0.3571064206 | gnomAD-4.0.0 | 2.47919E-06 | None | None | None | None | N | None | 0 | 3.33489E-05 | None | 0 | 0 | None | 0 | 0 | 8.47718E-07 | 0 | 1.60154E-05 |
| S/R | 26862 |
Fn3-83 |
83 | None | 0.9971 | None | 1.0 | D | 0.848 | 0.722 | 0.246773566709 | gnomAD-4.0.0 | 6.84288E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99569E-07 | 0 | 0 |
| S/N | 27056 |
Fn3-84 |
85 | None | 0.9334 | None | 0.722 | D | 0.758 | 0.394 | 0.255777322467 | gnomAD-4.0.0 | 6.85037E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00105E-07 | 0 | 0 |
| S/R | 27056 |
Fn3-84 |
85 | None | 0.9972 | None | 0.901 | D | 0.782 | 0.374 | 0.243398259712 | gnomAD-4.0.0 | 6.84945E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00028E-07 | 0 | 0 |
| G/D | 27156 |
Fn3-85 |
85 | None | 0.991 | None | 0.988 | D | 0.825 | 0.629 | 0.474248596982 | gnomAD-4.0.0 | 4.77582E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29935E-05 | 0 |
| S/R | 27255 |
Fn3-86 |
86 | None | 0.9983 | None | 1.0 | D | 0.833 | 0.546 | 0.405700215632 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65662E-05 |
| G/E | 27453 |
Fn3-87 |
85 | rs1036707578 |
0.9909 | -2.165 | 1.0 | D | 0.927 | 0.691 | 0.592827455569 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| G/E | 27453 |
Fn3-87 |
85 | rs1036707578 |
0.9909 | -2.165 | 1.0 | D | 0.927 | 0.691 | 0.592827455569 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 0 | 0 | 0 |
| G/A | 27553 |
Fn3-88 |
85 | rs753766297 |
0.5999 | -0.871 | 0.983 | D | 0.687 | 0.64 | 0.37550373646 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | 27553 |
Fn3-88 |
85 | rs753766297 |
0.5999 | -0.871 | 0.983 | D | 0.687 | 0.64 | 0.37550373646 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52258E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | 27553 |
Fn3-88 |
85 | None | 0.9807 | None | 0.995 | D | 0.893 | 0.68 | 0.662413160851 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99484E-07 | 0 | 0 |
| G/C | 27655 |
Fn3-89 |
86 | None | 0.9471 | None | 1.0 | D | 0.859 | 0.793 | 0.798117879876 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87266E-05 | 0 | 0 | 0 | 0 |
| G/D | 27655 |
Fn3-89 |
86 | rs373745130 |
0.9866 | -1.753 | 1.0 | D | 0.863 | 0.779 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| G/D | 27655 |
Fn3-89 |
86 | rs373745130 |
0.9866 | -1.753 | 1.0 | D | 0.863 | 0.779 | None | 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 |
| G/D | 27655 |
Fn3-89 |
86 | rs373745130 |
0.9866 | -1.753 | 1.0 | D | 0.863 | 0.779 | None | gnomAD-4.0.0 | 1.23946E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35625E-05 | 0 | 4.80354E-05 |
| G/S | 27655 |
Fn3-89 |
86 | None | 0.3419 | None | 1.0 | N | 0.808 | 0.57 | 0.236890367714 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| G/A | 27849 |
Fn3-90 |
84 | None | 0.855 | None | 1.0 | D | 0.703 | 0.822 | 0.501685917333 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | 27849 |
Fn3-90 |
84 | rs1704096127 |
0.9979 | None | 1.0 | D | 0.906 | 0.83 | 0.830013694033 | gnomAD-4.0.0 | 1.37108E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00278E-07 | 0 | 1.65937E-05 |
| G/V | 27849 |
Fn3-90 |
84 | None | 0.9941 | None | 1.0 | D | 0.89 | 0.807 | 0.90823639256 |
Rees (2021)
| None |
MmD
|
comp het with R21201* | None | None | I | Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded; cannot be re-folded | None | None | None | None | None | None | None | None | None | None | None |
| S/R | 27945 |
Fn3-91 |
83 | None | 0.997 | None | 1.0 | D | 0.781 | 0.505 | 0.455173453901 | gnomAD-4.0.0 | 2.73762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59824E-06 | 0 | 0 |
| S/N | 28138 |
Fn3-92 |
84 | rs975160153 |
0.8809 | -1.365 | 0.999 | D | 0.743 | 0.359 | 0.391000631824 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | 28138 |
Fn3-92 |
84 | rs975160153 |
0.8809 | -1.365 | 0.999 | D | 0.743 | 0.359 | 0.391000631824 | gnomAD-4.0.0 | 4.79356E-06 | None | None | None | None | N | None | 0 | 4.58863E-05 | None | 0 | 0 | None | 0 | 0 | 2.87147E-06 | 0 | 0 |
| S/C | 28337 |
Fn3-94 |
86 | None | 0.8041 | None | 1.0 | D | 0.811 | 0.571 | 0.519514513453 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 0 | 0 |
| S/G | 28337 |
Fn3-94 |
86 | rs1703494767 |
0.357 | None | 0.999 | N | 0.569 | 0.27 | 0.252681307341 | 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/G | 28337 |
Fn3-94 |
86 | rs1703494767 |
0.357 | None | 0.999 | N | 0.569 | 0.27 | 0.252681307341 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | 28337 |
Fn3-94 |
86 | None | 0.9928 | None | 1.0 | D | 0.815 | 0.527 | 0.619976913611 | gnomAD-4.0.0 | 2.73678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59776E-06 | 0 | 0 |
| S/T | 28337 |
Fn3-94 |
86 | None | 0.7165 | None | 0.999 | D | 0.552 | 0.389 | 0.433157607263 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 0 | 0 |
| G/S | 28534 |
Fn3-95 |
85 | None | 0.254 | None | 1.0 | N | 0.817 | 0.436 | 0.330589388543 | gnomAD-4.0.0 | 2.73782E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59847E-06 | 0 | 0 |
| G/A | 28928 |
Fn3-98 |
84 | rs767722495 |
0.7585 | None | 1.0 | D | 0.695 | 0.653 | 0.451599300725 | 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 |
| G/A | 28928 |
Fn3-98 |
84 | rs767722495 |
0.7585 | None | 1.0 | D | 0.695 | 0.653 | 0.451599300725 | gnomAD-4.0.0 | 2.4827E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39489E-06 | 0 | 0 |
| G/D | 28928 |
Fn3-98 |
84 | rs767722495 |
0.9916 | -1.495 | 1.0 | D | 0.867 | 0.734 | 0.541466613703 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/D | 28928 |
Fn3-98 |
84 | rs767722495 |
0.9916 | -1.495 | 1.0 | D | 0.867 | 0.734 | 0.541466613703 | gnomAD-4.0.0 | 4.79789E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30511E-06 | 0 | 0 |
| G/S | 28928 |
Fn3-98 |
84 | rs775579177 |
0.5175 | -1.122 | 1.0 | N | 0.807 | 0.513 | 0.308904156042 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | 28928 |
Fn3-98 |
84 | rs775579177 |
0.5175 | -1.122 | 1.0 | N | 0.807 | 0.513 | 0.308904156042 | gnomAD-4.0.0 | 4.7998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5537E-05 | None | 0 | 0 | 0 | 1.44613E-05 | 0 |
| S/G | 29221 |
Fn3-100 |
85 | None | 0.1672 | None | 0.999 | N | 0.617 | 0.445 | 0.178374595973 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-06 | 0 | 0 |
| S/N | 29221 |
Fn3-100 |
85 | None | 0.9789 | None | 0.999 | D | 0.639 | 0.507 | 0.364730456448 | 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/N | 29420 |
Fn3-102 |
86 | rs1415733680 |
0.9793 | None | 0.999 | D | 0.741 | 0.352 | 0.39619538035 | 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 |
| S/N | 29420 |
Fn3-102 |
86 | rs1415733680 |
0.9793 | None | 0.999 | D | 0.741 | 0.352 | 0.39619538035 | gnomAD-4.0.0 | 3.84324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17827E-06 | 0 | 0 |
| S/R | 29420 |
Fn3-102 |
86 | rs1312502975 |
0.9986 | None | 1.0 | D | 0.868 | 0.564 | 0.367992661779 | 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 |
| S/R | 29420 |
Fn3-102 |
86 | rs1312502975 |
0.9986 | None | 1.0 | D | 0.868 | 0.564 | 0.367992661779 | gnomAD-4.0.0 | 3.84325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1782E-06 | 0 | 0 |
| G/D | 29717 |
Fn3-104 |
85 | None | 0.9937 | None | 1.0 | D | 0.87 | 0.732 | 0.5864806356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | 29717 |
Fn3-104 |
85 | rs751391249 |
0.9978 | -0.761 | 1.0 | D | 0.899 | 0.758 | 0.837458232417 | gnomAD-2.1.1 | 2.45E-05 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 1.66168E-04 | None | 0 | 0 | 0 |
| G/R | 29717 |
Fn3-104 |
85 | rs751391249 |
0.9978 | -0.761 | 1.0 | D | 0.899 | 0.758 | 0.837458232417 | gnomAD-4.0.0 | 6.17602E-06 | None | None | None | None | I | None | 0 | 2.25012E-05 | None | 0 | 0 | None | 0 | 0 | 1.80039E-06 | 6.99382E-05 | 0 |
| S/C | 30308 |
Fn3-108 |
85 | None | 0.7886 | None | 1.0 | D | 0.873 | 0.672 | 0.579396798201 | gnomAD-4.0.0 | 1.59636E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87216E-06 | 0 | 0 |
| S/N | 30308 |
Fn3-108 |
85 | rs747482598 |
0.9689 | -1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-2.1.1 | 6.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.57487E-04 | None | 0 | 0 | 0 |
| S/N | 30308 |
Fn3-108 |
85 | rs747482598 |
0.9689 | -1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.22407E-04 | 0 |
| S/N | 30308 |
Fn3-108 |
85 | rs747482598 |
0.9689 | -1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-4.0.0 | 2.54413E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.39618E-04 | 1.60318E-05 |
| S/R | 30308 |
Fn3-108 |
85 | rs755569117 |
0.9988 | -0.941 | 1.0 | D | 0.879 | 0.641 | 0.420939154896 | 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 |
| S/G | 30408 |
Fn3-109 |
85 | None | 0.1021 | None | 0.999 | N | 0.745 | 0.279 | 0.154104182512 | 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/R | 30408 |
Fn3-109 |
85 | None | 0.9975 | None | 1.0 | D | 0.859 | 0.546 | 0.306053231325 | 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/C | 30506 |
Fn3-110 |
85 | None | 0.8788 | None | 1.0 | D | 0.876 | 0.565 | 0.564872276104 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 30506 |
Fn3-110 |
85 | rs1699224969 |
0.989 | None | 0.999 | D | 0.744 | 0.348 | 0.323342291347 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-06 | 0 | 0 |
| G/R | 30703 |
Fn3-111 |
85 | rs1418904114 |
0.9929 | -0.671 | 0.96 | D | 0.917 | 0.567 | 0.670013592873 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | 30703 |
Fn3-111 |
85 | rs1418904114 |
0.9929 | -0.671 | 0.96 | D | 0.917 | 0.567 | 0.670013592873 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | I | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | 30905 |
Fn3-113 |
85 | rs1698268798 |
0.9595 | None | 1.0 | D | 0.939 | 0.683 | 0.772147790219 | 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/V | 30905 |
Fn3-113 |
85 | rs1698268798 |
0.9595 | None | 1.0 | D | 0.939 | 0.683 | 0.772147790219 | gnomAD-4.0.0 | 2.56197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78549E-06 | 0 | 0 |
| G/S | 31099 |
Fn3-114 |
84 | rs2154147309 |
0.6147 | None | 1.0 | D | 0.798 | 0.303 | 0.176091768786 | 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/G | 31195 |
Fn3-115 |
83 | None | 0.1722 | None | 0.999 | N | 0.755 | 0.251 | 0.143124449307 | 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/N | 31195 |
Fn3-115 |
83 | None | 0.9787 | None | 0.999 | D | 0.739 | 0.353 | 0.343101102393 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 0 | 0 |
| S/T | 31195 |
Fn3-115 |
83 | None | 0.8608 | None | 0.999 | N | 0.742 | 0.404 | 0.30921473904 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 0 | 0 |
| S/G | 31392 |
Fn3-116 |
85 | rs1274136681 |
0.1764 | None | 0.104 | N | 0.458 | 0.157 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | 31392 |
Fn3-116 |
85 | rs1274136681 |
0.1764 | None | 0.104 | N | 0.458 | 0.157 | None | gnomAD-4.0.0 | 4.34563E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09334E-06 | 0 | 0 |
| S/I | 31392 |
Fn3-116 |
85 | None | 0.9977 | None | 0.999 | D | 0.833 | 0.464 | 0.792077528292 | gnomAD-4.0.0 | 1.59979E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0338E-05 |
| S/G | 31594 |
Fn3-118 |
89 | rs1697300791 |
0.2956 | None | 0.999 | N | 0.695 | 0.321 | 0.380223377699 | gnomAD-4.0.0 | 3.18357E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7188E-06 | 0 | 0 |
| S/I | 31594 |
Fn3-118 |
89 | rs1392690569 |
0.9972 | 0.313 | 1.0 | D | 0.767 | 0.52 | 0.693164089083 | 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 |
| S/I | 31594 |
Fn3-118 |
89 | rs1392690569 |
0.9972 | 0.313 | 1.0 | D | 0.767 | 0.52 | 0.693164089083 | gnomAD-4.0.0 | 6.84333E-07 | None | None | None | None | N | None | 0 | 2.23684E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | 31594 |
Fn3-118 |
89 | rs763418453 |
0.9989 | -0.705 | 1.0 | D | 0.728 | 0.58 | 0.486352402194 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67654E-04 | None | 0 | None | 0 | 0 | 0 |
| S/R | 31594 |
Fn3-118 |
89 | rs763418453 |
0.9989 | -0.705 | 1.0 | D | 0.728 | 0.58 | 0.486352402194 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04312E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 31594 |
Fn3-118 |
89 | None | 0.8413 | None | 0.999 | D | 0.67 | 0.442 | 0.455173453901 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79923E-06 | 0 | 0 |
| G/D | 31791 |
Fn3-119 |
84 | rs869320744 |
0.984 | -1.821 | 1.0 | D | 0.875 | 0.944 | 0.495038369364 |
Toro (2013)
Uruha (2015)
| None |
MFM
HMERF
|
het | None | None | N | WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | None | None | None | None | None | None | None | None | None | None |
| G/R | 31791 |
Fn3-119 |
84 | rs1696856005 |
0.9924 | -1.008 | 1.0 | D | 0.916 | 0.954 | 0.703283205912 |
Uruha (2015)
| None |
MFM
HMERF
|
het | None | None | N | Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | None | None | None | None | None | None | None | None | None | None |
| G/V | 31791 |
Fn3-119 |
84 | None | 0.9787 | -0.713 | 1.0 | D | 0.903 | 0.916 | 0.684650895497 |
Uruha (2015)
| None |
MFM
HMERF
|
het | None | None | N | Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF | None | None | None | None | None | None | None | None | None | None | None |
| S/G | 31892 |
Fn3-120 |
86 | None | 0.146 | None | 0.999 | N | 0.734 | 0.263 | 0.141422826196 | 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 |
| S/I | 31892 |
Fn3-120 |
86 | rs186675165 |
0.9947 | 0.267 | 1.0 | D | 0.911 | 0.508 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| S/I | 31892 |
Fn3-120 |
86 | rs186675165 |
0.9947 | 0.267 | 1.0 | D | 0.911 | 0.508 | None | 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 |
| S/I | 31892 |
Fn3-120 |
86 | rs186675165 |
0.9947 | 0.267 | 1.0 | D | 0.911 | 0.508 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/I | 31892 |
Fn3-120 |
86 | rs186675165 |
0.9947 | 0.267 | 1.0 | D | 0.911 | 0.508 | None | gnomAD-4.0.0 | 2.02959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40983E-06 | 0 | 0 |
| S/N | 31994 |
Fn3-121 |
86 | rs1317294203 |
0.8535 | -1.336 | 0.959 | D | 0.707 | 0.35 | 0.301122078929 | 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 | 31994 |
Fn3-121 |
86 | rs1317294203 |
0.8535 | -1.336 | 0.959 | D | 0.707 | 0.35 | 0.301122078929 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | 31994 |
Fn3-121 |
86 | rs761895710 |
0.9951 | -0.831 | 0.998 | N | 0.772 | 0.455 | 0.296329037015 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| S/R | 31994 |
Fn3-121 |
86 | rs761895710 |
0.9951 | -0.831 | 0.998 | N | 0.772 | 0.455 | 0.296329037015 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-07 | 1.15939E-05 | 0 |
| G/C | 32483 |
Fn3-124 |
85 | None | 0.9595 | None | 1.0 | D | 0.905 | 0.593 | 0.837764480019 | 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 |
| G/R | 32583 |
Fn3-125 |
85 | None | 0.9772 | None | 1.0 | D | 0.925 | 0.572 | 0.72327570688 | gnomAD-4.0.0 | 1.72322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.10451E-06 | 0 | 0 |
| G/W | 32583 |
Fn3-125 |
85 | None | 0.9821 | None | 1.0 | D | 0.873 | 0.583 | 0.70776508276 | gnomAD-4.0.0 | 1.72322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.94221E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | 32684 |
Fn3-126 |
85 | rs774041992 |
0.522 | -0.705 | 1.0 | D | 0.697 | 0.65 | None | 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/A | 32684 |
Fn3-126 |
85 | rs774041992 |
0.522 | -0.705 | 1.0 | D | 0.697 | 0.65 | None | 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/A | 32684 |
Fn3-126 |
85 | rs774041992 |
0.522 | -0.705 | 1.0 | D | 0.697 | 0.65 | None | gnomAD-4.0.0 | 2.6698E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.56709E-05 | 0 | 1.60472E-05 |
| G/D | 32684 |
Fn3-126 |
85 | rs774041992 |
0.9652 | -1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | 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/D | 32684 |
Fn3-126 |
85 | rs774041992 |
0.9652 | -1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | 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 | 4.77555E-04 |
| G/D | 32684 |
Fn3-126 |
85 | rs774041992 |
0.9652 | -1.791 | 1.0 | D | 0.87 | 0.662 | 0.539159600622 | gnomAD-4.0.0 | 3.7253E-06 | None | None | None | None | N | None | 0 | 1.66828E-05 | None | 0 | 0 | None | 0 | 0 | 2.54792E-06 | 0 | 3.20945E-05 |
| G/S | 32684 |
Fn3-126 |
85 | None | 0.2858 | None | 1.0 | N | 0.813 | 0.468 | 0.301122078929 | gnomAD-4.0.0 | 1.57701E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.0732E-05 | 0 | 0 |
| S/G | 32879 |
Fn3-127 |
85 | rs376395673 |
0.1516 | None | 0.999 | N | 0.752 | 0.322 | None | gnomAD-4.0.0 | 1.36842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79895E-06 | 0 | 0 |
| S/C | 32981 |
Fn3-128 |
86 | rs1316479565 |
0.8011 | -1.152 | 0.999 | D | 0.731 | 0.512 | 0.427596317008 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/C | 32981 |
Fn3-128 |
86 | rs1316479565 |
0.8011 | -1.152 | 0.999 | D | 0.731 | 0.512 | 0.427596317008 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02663E-05 |
| S/G | 32981 |
Fn3-128 |
86 | None | 0.1834 | None | 0.02 | N | 0.449 | 0.087 | 0.0884992946249 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| S/T | 33375 |
Fn3-130 |
86 | rs758043383 |
0.8072 | -1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.85E-05 | None | 0 | 0 | 0 |
| S/T | 33375 |
Fn3-130 |
86 | rs758043383 |
0.8072 | -1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 0 |
| S/T | 33375 |
Fn3-130 |
86 | rs758043383 |
0.8072 | -1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-4.0.0 | 6.19876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47746E-07 | 8.79411E-05 | 1.60164E-05 |
| S/C | 33771 |
Fn3-132 |
83 | None | 0.8601 | None | 1.0 | D | 0.849 | 0.664 | 0.677953048899 | gnomAD-4.0.0 | 2.73672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59772E-06 | 0 | 0 |
| S/R | 33771 |
Fn3-132 |
83 | None | 0.9987 | None | 1.0 | D | 0.859 | 0.634 | 0.50857664894 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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.