Structural position:
- Domain Type: Fn3
- Aligned Position: 108
- Secondary Structure Element: e
- Secondary Structure Region: β-strand F
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | 15732 |
Fn3-1 |
76 | rs747351553 |
0.9344 | -1.381 | 1.0 | D | 0.777 | 0.646 | 0.751926697435 | 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 |
| V/E | 15833 |
Fn3-2 |
76 | rs758495958 |
0.9958 | -3.313 | 0.996 | D | 0.88 | 0.893 | 0.906140027571 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66058E-04 |
| V/E | 15833 |
Fn3-2 |
76 | rs758495958 |
0.9958 | -3.313 | 0.996 | D | 0.88 | 0.893 | 0.906140027571 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.58E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | 15833 |
Fn3-2 |
76 | rs758495958 |
0.9958 | -3.313 | 0.996 | D | 0.88 | 0.893 | 0.906140027571 | gnomAD-4.0.0 | 5.13286E-06 | None | None | None | None | N | None | 0 | 5.09338E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85128E-05 |
| V/M | 15833 |
Fn3-2 |
76 | None | 0.8666 | None | 0.978 | D | 0.825 | 0.642 | 0.704055910078 | 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/I | 16129 |
Fn3-4 |
75 | rs756510403 |
0.1365 | -0.888 | 0.997 | N | 0.612 | 0.433 | 0.78358005052 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 16129 |
Fn3-4 |
75 | rs756510403 |
0.1365 | -0.888 | 0.997 | N | 0.612 | 0.433 | 0.78358005052 | 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 |
| V/I | 16129 |
Fn3-4 |
75 | rs756510403 |
0.1365 | -0.888 | 0.997 | N | 0.612 | 0.433 | 0.78358005052 | gnomAD-4.0.0 | 2.56674E-06 | None | None | None | None | N | None | 3.3896E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 16229 |
Fn3-5 |
75 | None | 0.9175 | None | 0.999 | D | 0.637 | 0.536 | 0.764336710106 | gnomAD-4.0.0 | 6.94107E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.2036E-05 | 0 |
| V/M | 16229 |
Fn3-5 |
75 | rs758130661 |
0.949 | -1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-2.1.1 | 2.8E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.25E-05 | 0 |
| V/M | 16229 |
Fn3-5 |
75 | rs758130661 |
0.949 | -1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| V/M | 16229 |
Fn3-5 |
75 | rs758130661 |
0.949 | -1.294 | 1.0 | D | 0.767 | 0.559 | None | gnomAD-4.0.0 | 4.70943E-05 | None | None | None | None | N | None | 4.02307E-05 | 0 | None | 0 | 1.82058E-04 | None | 0 | 0 | 5.30635E-05 | 1.13758E-05 | 1.62106E-05 |
| V/A | 16425 |
Fn3-6 |
75 | None | 0.838 | None | 0.999 | D | 0.657 | 0.689 | 0.810761783182 | gnomAD-4.0.0 | 2.05409E-06 | None | None | None | None | N | None | 2.99258E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99821E-07 | 1.15982E-05 | 0 |
| V/A | 16525 |
Fn3-7 |
76 | rs1159979005 |
0.9101 | -2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 16525 |
Fn3-7 |
76 | rs1159979005 |
0.9101 | -2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 16525 |
Fn3-7 |
76 | rs1159979005 |
0.9101 | -2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-4.0.0 | 2.56954E-06 | None | None | None | None | N | None | 0 | 0 | None | 8.19672E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 16525 |
Fn3-7 |
76 | rs753821979 |
0.8969 | -0.609 | 0.997 | D | 0.68 | 0.64 | 0.745025147408 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| V/L | 16525 |
Fn3-7 |
76 | rs753821979 |
0.8969 | -0.609 | 0.997 | D | 0.68 | 0.64 | 0.745025147408 | gnomAD-4.0.0 | 1.5967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44363E-05 | 0 |
| V/G | 16625 |
Fn3-8 |
75 | None | 0.9416 | None | 1.0 | D | 0.891 | 0.903 | 0.90093157036 | 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 | 16826 |
Fn3-10 |
76 | None | 0.8713 | None | 0.997 | D | 0.697 | 0.575 | 0.733398536896 | gnomAD-4.0.0 | 4.10712E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39861E-06 | 0 | 0 |
| V/A | 16928 |
Fn3-11 |
77 | rs772461854 |
0.8489 | -2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 1.68577E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | 16928 |
Fn3-11 |
77 | rs772461854 |
0.8489 | -2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.90016E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 16928 |
Fn3-11 |
77 | rs772461854 |
0.8489 | -2.735 | 0.999 | D | 0.639 | 0.769 | 0.803072696312 | gnomAD-4.0.0 | 4.96015E-06 | None | None | None | None | N | None | 0 | 1.66811E-05 | None | 0 | 1.56754E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | 17222 |
Fn3-13 |
76 | None | 0.9979 | None | 0.942 | D | 0.802 | 0.747 | 0.826887190631 | gnomAD-4.0.0 | 3.18682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76634E-05 | 0 | 0 | 0 | 0 |
| V/G | 17222 |
Fn3-13 |
76 | rs1014056487 |
0.9613 | -3.597 | 0.698 | D | 0.813 | 0.719 | 0.777313054034 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 0 | 0 |
| V/G | 17222 |
Fn3-13 |
76 | rs1014056487 |
0.9613 | -3.597 | 0.698 | D | 0.813 | 0.719 | 0.777313054034 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| V/G | 17222 |
Fn3-13 |
76 | rs1014056487 |
0.9613 | -3.597 | 0.698 | D | 0.813 | 0.719 | 0.777313054034 | gnomAD-4.0.0 | 2.56573E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.13853E-05 | 0 | 0 | 0 | 0 |
| V/M | 17222 |
Fn3-13 |
76 | None | 0.969 | None | 0.99 | D | 0.646 | 0.631 | 0.729886986044 | 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/I | 17445 |
Fn3-14 |
77 | rs1323206460 |
0.1394 | -1.098 | 0.997 | N | 0.649 | 0.372 | 0.737662299136 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| V/I | 17445 |
Fn3-14 |
77 | rs1323206460 |
0.1394 | -1.098 | 0.997 | N | 0.649 | 0.372 | 0.737662299136 | gnomAD-4.0.0 | 1.91776E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.52013E-05 | 0 | 0 |
| V/G | 17644 |
Fn3-16 |
76 | rs1490004465 |
0.9322 | -3.279 | 1.0 | D | 0.873 | 0.857 | 0.895584942453 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| V/G | 17644 |
Fn3-16 |
76 | rs1490004465 |
0.9322 | -3.279 | 1.0 | D | 0.873 | 0.857 | 0.895584942453 | gnomAD-4.0.0 | 3.18555E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56545E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | 17937 |
Fn3-18 |
76 | rs1559723150 |
0.9979 | None | 0.966 | D | 0.839 | 0.761 | 0.901659094074 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66611E-04 |
| V/D | 17937 |
Fn3-18 |
76 | rs1559723150 |
0.9979 | None | 0.966 | D | 0.839 | 0.761 | 0.901659094074 | gnomAD-4.0.0 | 1.59467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03232E-05 |
| V/F | 18141 |
Fn3-19 |
77 | None | 0.9404 | None | 0.982 | D | 0.783 | 0.55 | 0.826369311445 | gnomAD-4.0.0 | 1.42257E-06 | None | None | None | None | N | None | 0 | 2.58318E-05 | None | 4.34028E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 18141 |
Fn3-19 |
77 | rs527461961 |
0.1101 | None | 0.046 | N | 0.258 | 0.237 | 0.51028768548 | gnomAD-4.0.0 | 4.979E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.4659E-06 | 0 | 0 |
| V/G | 18349 |
Fn3-21 |
78 | rs772880269 |
0.9117 | -3.586 | 0.999 | D | 0.825 | 0.88 | 0.910249762803 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| V/G | 18349 |
Fn3-21 |
78 | rs772880269 |
0.9117 | -3.586 | 0.999 | D | 0.825 | 0.88 | 0.910249762803 | gnomAD-4.0.0 | 2.05371E-06 | None | None | None | None | N | None | 0 | 2.23904E-05 | None | 0 | 0 | None | 0 | 0 | 8.998E-07 | 0 | 1.65782E-05 |
| V/L | 18553 |
Fn3-22 |
75 | rs1249794224 |
0.809 | -1.399 | 0.997 | N | 0.653 | 0.555 | 0.643501137068 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | 18553 |
Fn3-22 |
75 | rs1249794224 |
0.809 | -1.399 | 0.997 | N | 0.653 | 0.555 | 0.643501137068 | gnomAD-4.0.0 | 6.85663E-07 | None | None | None | None | N | None | 0 | 2.24477E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 18553 |
Fn3-22 |
75 | None | 0.9108 | None | 1.0 | D | 0.78 | 0.594 | 0.677202884781 | gnomAD-4.0.0 | 6.85663E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53447E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 18659 |
Fn3-23 |
81 | None | 0.1725 | None | 0.767 | N | 0.331 | 0.301 | 0.549460442827 | 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 |
| I/V | 18859 |
Fn3-24 |
76 | None | 0.08 | None | 0.003 | N | 0.155 | 0.08 | 0.17258766438 | gnomAD-4.0.0 | 1.83678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.92463E-05 | 0 |
| V/I | 19063 |
Fn3-26 |
76 | None | 0.1235 | None | 0.997 | N | 0.606 | 0.394 | 0.731997862569 | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77809E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | 19258 |
Fn3-27 |
76 | rs1467911072 |
0.7822 | -1.963 | 0.982 | N | 0.587 | 0.498 | 0.563873649602 | gnomAD-2.1.1 | 1.51E-05 | None | None | None | None | N | None | 0 | 1.03605E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | 19258 |
Fn3-27 |
76 | rs1467911072 |
0.7822 | -1.963 | 0.982 | N | 0.587 | 0.498 | 0.563873649602 | gnomAD-4.0.0 | 5.03846E-06 | None | None | None | None | N | None | 0 | 7.71446E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | 19258 |
Fn3-27 |
76 | None | 0.3139 | None | 0.58 | N | 0.251 | 0.126 | 0.419713421852 | gnomAD-4.0.0 | 1.67949E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.01383E-06 | 0 | 0 |
| I/T | 19258 |
Fn3-27 |
76 | rs1360164741 |
0.7828 | -3.438 | 0.939 | N | 0.699 | 0.486 | 0.6965871858 | gnomAD-2.1.1 | 5.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.19E-05 | 0 |
| I/T | 19258 |
Fn3-27 |
76 | rs1360164741 |
0.7828 | -3.438 | 0.939 | N | 0.699 | 0.486 | 0.6965871858 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| I/T | 19258 |
Fn3-27 |
76 | rs1360164741 |
0.7828 | -3.438 | 0.939 | N | 0.699 | 0.486 | 0.6965871858 | gnomAD-4.0.0 | 5.06282E-06 | None | None | None | None | N | None | 0 | 3.63082E-05 | None | 0 | 0 | None | 0 | 0 | 2.58297E-06 | 0 | 4.89412E-05 |
| I/L | 19554 |
Fn3-29 |
76 | rs879139698 |
0.4717 | None | 0.993 | N | 0.343 | 0.379 | 0.631849437455 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 19554 |
Fn3-29 |
76 | rs974431132 |
0.977 | -3.572 | 1.0 | N | 0.785 | 0.524 | 0.798160069708 | 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 |
| I/T | 19554 |
Fn3-29 |
76 | rs974431132 |
0.977 | -3.572 | 1.0 | N | 0.785 | 0.524 | 0.798160069708 | gnomAD-4.0.0 | 3.18593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86664E-05 | 0 |
| V/I | 19654 |
Fn3-30 |
76 | None | 0.1314 | None | 0.997 | N | 0.658 | 0.453 | 0.684766686716 | gnomAD-4.0.0 | 3.18396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8664E-05 | 0 |
| V/A | 19757 |
Fn3-31 |
78 | rs574316788 |
0.8982 | -2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 19757 |
Fn3-31 |
78 | rs574316788 |
0.8982 | -2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96747E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 19757 |
Fn3-31 |
78 | rs574316788 |
0.8982 | -2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | 19757 |
Fn3-31 |
78 | rs574316788 |
0.8982 | -2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-4.0.0 | 8.05774E-06 | None | None | None | None | N | None | 1.33419E-05 | 2.00093E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 19951 |
Fn3-32 |
75 | rs1576116840 |
0.1201 | None | 0.996 | D | 0.504 | 0.403 | 0.715633265667 | gnomAD-4.0.0 | 3.18576E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72014E-06 | 0 | 0 |
| V/D | 20345 |
Fn3-35 |
75 | None | 0.994 | None | 0.991 | D | 0.889 | 0.724 | 0.790947836327 | 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 |
| I/T | 20447 |
Fn3-36 |
77 | None | 0.9851 | None | 0.961 | N | 0.564 | 0.501 | 0.716551085193 | gnomAD-4.0.0 | 6.92752E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05938E-07 | 0 | 0 |
| V/L | 20642 |
Fn3-37 |
74 | None | 0.8674 | None | 0.997 | D | 0.655 | 0.596 | 0.790187556284 | gnomAD-4.0.0 | 1.59177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 0 | 0 | 0 |
| V/A | 20743 |
Fn3-38 |
76 | rs762990827 |
0.9342 | -3.047 | 0.999 | D | 0.657 | 0.7 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | 20743 |
Fn3-38 |
76 | rs762990827 |
0.9342 | -3.047 | 0.999 | D | 0.657 | 0.7 | None | gnomAD-4.0.0 | 1.85975E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5432E-06 | 0 | 0 |
| V/D | 20938 |
Fn3-39 |
75 | None | 0.9991 | None | 0.928 | D | 0.899 | 0.765 | 0.86557087108 | gnomAD-4.0.0 | 1.59295E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | 21038 |
Fn3-40 |
76 | rs886042629 |
0.9658 | -1.38 | 1.0 | D | 0.797 | 0.544 | 0.834540731262 | gnomAD-2.1.1 | 4.45E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.1E-05 | None | 0 | 0 | 0 |
| V/F | 21038 |
Fn3-40 |
76 | rs886042629 |
0.9658 | -1.38 | 1.0 | D | 0.797 | 0.544 | 0.834540731262 | gnomAD-4.0.0 | 1.67142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.57351E-05 | 0 |
| V/L | 21038 |
Fn3-40 |
76 | None | 0.8218 | None | 0.997 | N | 0.684 | 0.572 | 0.712609426866 | gnomAD-4.0.0 | 1.67142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.15457E-05 |
| V/A | 21145 |
Fn3-41 |
82 | None | 0.6722 | None | 0.999 | D | 0.636 | 0.809 | 0.797878369283 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/L | 21145 |
Fn3-41 |
82 | None | 0.6152 | None | 0.997 | N | 0.654 | 0.657 | 0.706577926717 | gnomAD-4.0.0 | 6.85038E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00079E-07 | 0 | 0 |
| V/M | 21145 |
Fn3-41 |
82 | rs768769006 |
0.7365 | -1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| V/M | 21145 |
Fn3-41 |
82 | rs768769006 |
0.7365 | -1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/M | 21145 |
Fn3-41 |
82 | rs768769006 |
0.7365 | -1.184 | 1.0 | D | 0.808 | 0.735 | 0.74921544876 | gnomAD-4.0.0 | 3.10217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48197E-07 | 3.30106E-05 | 1.60344E-05 |
| V/A | 21340 |
Fn3-42 |
75 | rs2049206770 |
0.8679 | None | 0.999 | D | 0.64 | 0.758 | 0.828767969993 | gnomAD-4.0.0 | 1.59222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86048E-06 | 0 | 0 |
| V/I | 21634 |
Fn3-44 |
76 | rs1191272248 |
0.1263 | None | 0.997 | N | 0.557 | 0.318 | 0.637113853397 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 21634 |
Fn3-44 |
76 | rs1191272248 |
0.1263 | None | 0.997 | N | 0.557 | 0.318 | 0.637113853397 | gnomAD-4.0.0 | 2.56327E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.42648E-05 | None | 0 | 0 | 2.39418E-06 | 0 | 0 |
| I/M | 21734 |
Fn3-45 |
76 | rs765344234 |
0.4779 | -2.035 | 0.994 | N | 0.616 | 0.378 | 0.492267288202 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| I/M | 21734 |
Fn3-45 |
76 | rs765344234 |
0.4779 | -2.035 | 0.994 | N | 0.616 | 0.378 | 0.492267288202 | 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 |
| I/M | 21734 |
Fn3-45 |
76 | rs765344234 |
0.4779 | -2.035 | 0.994 | N | 0.616 | 0.378 | 0.492267288202 | gnomAD-4.0.0 | 2.4807E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39288E-06 | 0 | 0 |
| A/G | 21834 |
Fn3-46 |
78 | None | 0.5048 | None | 0.993 | N | 0.573 | 0.339 | 0.332133492242 | gnomAD-4.0.0 | 6.84853E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99912E-07 | 0 | 0 |
| A/T | 21834 |
Fn3-46 |
78 | rs374874879 |
0.2174 | -1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/T | 21834 |
Fn3-46 |
78 | rs374874879 |
0.2174 | -1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 21834 |
Fn3-46 |
78 | rs374874879 |
0.2174 | -1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-4.0.0 | 1.4266E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78089E-05 | 0 | 3.20729E-05 |
| A/V | 21834 |
Fn3-46 |
78 | rs878949081 |
0.0852 | -0.519 | 0.122 | N | 0.373 | 0.287 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | 21834 |
Fn3-46 |
78 | rs878949081 |
0.0852 | -0.519 | 0.122 | N | 0.373 | 0.287 | None | gnomAD-4.0.0 | 4.79397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29938E-06 | 0 | 0 |
| V/I | 22130 |
Fn3-48 |
76 | rs1227757855 |
0.1552 | None | 0.997 | N | 0.572 | 0.483 | 0.694280915357 | gnomAD-4.0.0 | 1.36881E-06 | None | None | None | None | N | None | 2.9915E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65728E-05 |
| V/L | 22130 |
Fn3-48 |
76 | rs1227757855 |
0.8532 | -0.09 | 0.997 | N | 0.676 | 0.653 | 0.756346533954 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11907E-04 | None | 0 | None | 0 | 2.67E-05 | 1.65893E-04 |
| V/L | 22130 |
Fn3-48 |
76 | rs1227757855 |
0.8532 | -0.09 | 0.997 | N | 0.676 | 0.653 | 0.756346533954 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | 22130 |
Fn3-48 |
76 | rs1227757855 |
0.8532 | -0.09 | 0.997 | N | 0.676 | 0.653 | 0.756346533954 | gnomAD-4.0.0 | 1.36375E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56362E-04 | None | 0 | 0 | 1.01737E-05 | 0 | 4.80523E-05 |
| V/A | 22232 |
Fn3-49 |
77 | None | 0.9354 | None | 0.939 | D | 0.625 | 0.774 | 0.766354235103 | gnomAD-4.0.0 | 1.59395E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78629E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | 22232 |
Fn3-49 |
77 | rs2047754989 |
0.9947 | -3.064 | 0.997 | D | 0.877 | 0.945 | 0.896239366562 |
Chauveau (2013)
Rees (2021)
| None |
MmD-HD
|
comp het with N34020Tfs*9 | None | None | N | Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro and cannot be re-folded; Also found in WES prioritisation in 23 families with congenital CM; comp het with N34020fs; recessive inheritance (n = 1, 1 affected (total 2)) | None | None | None | None | None | None | None | None | None | None | None |
| V/L | 22232 |
Fn3-49 |
77 | rs979149024 |
0.807 | None | 0.76 | N | 0.54 | 0.416 | 0.590315534784 | 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 |
| V/L | 22428 |
Fn3-50 |
75 | rs794729483 |
0.8745 | -0.87 | 0.034 | D | 0.547 | 0.371 | 0.489104616352 | 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 |
| V/L | 22428 |
Fn3-50 |
75 | rs794729483 |
0.8745 | -0.87 | 0.034 | D | 0.547 | 0.371 | 0.489104616352 | 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 | 22428 |
Fn3-50 |
75 | rs794729483 |
0.8745 | -0.87 | 0.034 | D | 0.547 | 0.371 | 0.489104616352 | gnomAD-4.0.0 | 8.67838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18692E-05 | 0 | 0 |
| V/G | 22523 |
Fn3-51 |
73 | rs1274914285 |
0.8835 | -3.267 | 1.0 | D | 0.891 | 0.831 | 0.94499076129 | 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 |
| V/F | 22718 |
Fn3-52 |
76 | None | 0.8989 | None | 0.993 | D | 0.836 | 0.709 | 0.845016314037 | gnomAD-4.0.0 | 6.84412E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99692E-07 | 0 | 0 |
| V/I | 22718 |
Fn3-52 |
76 | None | 0.0969 | None | 0.117 | N | 0.316 | 0.229 | 0.534239989213 | gnomAD-4.0.0 | 3.42206E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49846E-06 | 0 | 0 |
| V/I | 22818 |
Fn3-53 |
76 | None | 0.1211 | None | 0.767 | N | 0.348 | 0.418 | 0.655682557923 | gnomAD-4.0.0 | 1.5925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-05 |
| V/L | 22818 |
Fn3-53 |
76 | None | 0.6419 | None | 0.981 | N | 0.635 | 0.565 | 0.81868435926 | gnomAD-4.0.0 | 1.5925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86041E-06 | 0 | 0 |
| I/T | 22916 |
Fn3-54 |
76 | None | 0.92 | None | 0.201 | N | 0.634 | 0.587 | 0.606545613963 | 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 |
| V/D | 23114 |
Fn3-55 |
75 | None | 0.9975 | None | 0.983 | D | 0.901 | 0.842 | 0.924821572837 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 0 | 0 |
| V/I | 23214 |
Fn3-56 |
76 | rs1213856899 |
0.1345 | -0.631 | 0.997 | D | 0.626 | 0.403 | 0.756004659829 | 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 |
| V/I | 23214 |
Fn3-56 |
76 | rs1213856899 |
0.1345 | -0.631 | 0.997 | D | 0.626 | 0.403 | 0.756004659829 | gnomAD-4.0.0 | 1.20032E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 0 | 0 |
| V/E | 23509 |
Fn3-58 |
75 | rs926271333 |
0.9973 | None | 1.0 | D | 0.875 | 0.873 | 0.905623151949 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | 23509 |
Fn3-58 |
75 | rs926271333 |
0.9657 | None | 1.0 | D | 0.891 | 0.864 | 0.921624639312 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99548E-07 | 0 | 0 |
| V/L | 23605 |
Fn3-59 |
74 | rs368325616 |
0.7707 | None | 0.853 | D | 0.381 | 0.506 | 0.739614512186 | gnomAD-4.0.0 | 1.98455E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.51875E-05 | 0 | 1.65678E-05 |
| V/M | 23605 |
Fn3-59 |
74 | None | 0.8528 | None | 0.999 | D | 0.652 | 0.606 | 0.826566672349 | gnomAD-4.0.0 | 6.84329E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99554E-07 | 0 | 0 |
| V/M | 23901 |
Fn3-61 |
76 | None | 0.6339 | None | 0.994 | D | 0.698 | 0.745 | 0.73031271798 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79915E-06 | 0 | 0 |
| V/I | 24197 |
Fn3-63 |
76 | None | 0.0895 | None | 0.046 | N | 0.281 | 0.267 | 0.603037435086 | gnomAD-4.0.0 | 3.90683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.2244E-05 | 0 |
| V/I | 24593 |
Fn3-66 |
75 | None | 0.1168 | None | 0.29 | N | 0.189 | 0.35 | 0.581280949539 | gnomAD-4.0.0 | 1.59448E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| I/T | 24883 |
Fn3-68 |
76 | rs1191756557 |
0.9467 | -3.492 | 0.892 | N | 0.671 | 0.556 | 0.696609645563 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | 24883 |
Fn3-68 |
76 | rs1191756557 |
0.9467 | -3.492 | 0.892 | N | 0.671 | 0.556 | 0.696609645563 | gnomAD-4.0.0 | 2.05317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52793E-05 | None | 0 | 0 | 8.99606E-07 | 0 | 1.65728E-05 |
| V/A | 24983 |
Fn3-69 |
76 | rs530334283 |
0.666 | -2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 3.23081E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 24983 |
Fn3-69 |
76 | rs530334283 |
0.666 | -2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.26E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 24983 |
Fn3-69 |
76 | rs530334283 |
0.666 | -2.495 | 0.543 | D | 0.326 | 0.725 | 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/A | 24983 |
Fn3-69 |
76 | rs530334283 |
0.666 | -2.495 | 0.543 | D | 0.326 | 0.725 | None | gnomAD-4.0.0 | 4.95895E-06 | None | None | None | None | N | None | 9.34455E-05 | 1.6675E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 25081 |
Fn3-70 |
76 | None | 0.0996 | None | 0.067 | D | 0.327 | 0.248 | 0.326881540566 | gnomAD-4.0.0 | 3.18346E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71873E-06 | 0 | 0 |
| I/M | 25279 |
Fn3-71 |
76 | rs897348852 |
0.4126 | None | 0.497 | N | 0.615 | 0.271 | 0.626877219219 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| I/M | 25279 |
Fn3-71 |
76 | rs897348852 |
0.4126 | None | 0.497 | N | 0.615 | 0.271 | 0.626877219219 | 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 |
| I/M | 25279 |
Fn3-71 |
76 | rs897348852 |
0.4126 | None | 0.497 | N | 0.615 | 0.271 | 0.626877219219 | gnomAD-4.0.0 | 6.57488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-05 | 0 | 0 |
| I/T | 25279 |
Fn3-71 |
76 | rs748074844 |
0.9493 | -3.603 | 0.124 | N | 0.53 | 0.475 | 0.730295777819 | 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 |
| I/T | 25279 |
Fn3-71 |
76 | rs748074844 |
0.9493 | -3.603 | 0.124 | N | 0.53 | 0.475 | 0.730295777819 | gnomAD-4.0.0 | 1.59226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| V/I | 25379 |
Fn3-72 |
76 | None | 0.1101 | None | 0.997 | N | 0.657 | 0.414 | 0.774835214283 | 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 |
| I/V | 25481 |
Fn3-73 |
77 | rs1324632548 |
0.0844 | None | 0.002 | N | 0.211 | 0.056 | 0.232513804876 | 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 |
| I/V | 25481 |
Fn3-73 |
77 | rs1324632548 |
0.0844 | None | 0.002 | N | 0.211 | 0.056 | 0.232513804876 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4708E-05 | 0 | 0 |
| V/I | 25675 |
Fn3-74 |
75 | None | 0.0981 | None | 0.18 | D | 0.314 | 0.243 | 0.582797214371 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 0 | 0 |
| V/A | 25771 |
Fn3-75 |
74 | None | 0.9127 | None | 1.0 | D | 0.639 | 0.795 | 0.809015641971 | gnomAD-4.0.0 | 6.84433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99599E-07 | 0 | 0 |
| V/G | 25771 |
Fn3-75 |
74 | rs1184590631 |
0.9704 | -3.718 | 1.0 | D | 0.88 | 0.841 | 0.952205082084 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/G | 25771 |
Fn3-75 |
74 | rs1184590631 |
0.9704 | -3.718 | 1.0 | D | 0.88 | 0.841 | 0.952205082084 | gnomAD-4.0.0 | 6.84433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52372E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 26065 |
Fn3-77 |
76 | None | 0.725 | None | 0.999 | D | 0.665 | 0.813 | 0.811439811116 | gnomAD-4.0.0 | 2.05289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47842E-05 | 0 |
| V/G | 26065 |
Fn3-77 |
76 | rs931947649 |
0.8905 | -3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/G | 26065 |
Fn3-77 |
76 | rs931947649 |
0.8905 | -3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | 26065 |
Fn3-77 |
76 | rs931947649 |
0.8905 | -3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-4.0.0 | 3.71928E-06 | None | None | None | None | N | None | 0 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 2.54329E-06 | 0 | 3.2039E-05 |
| V/M | 26065 |
Fn3-77 |
76 | rs1371536406 |
0.8964 | -1.466 | 1.0 | D | 0.807 | 0.684 | 0.810432915247 | 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 |
| V/M | 26065 |
Fn3-77 |
76 | rs1371536406 |
0.8964 | -1.466 | 1.0 | D | 0.807 | 0.684 | 0.810432915247 | gnomAD-4.0.0 | 4.7901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39748E-06 | 1.1595E-05 | 0 |
| V/L | 26163 |
Fn3-78 |
76 | rs1428745841 |
0.8197 | -0.886 | 0.981 | D | 0.687 | 0.521 | 0.595418376915 | 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 |
| V/L | 26163 |
Fn3-78 |
76 | rs1428745841 |
0.8197 | -0.886 | 0.981 | D | 0.687 | 0.521 | 0.595418376915 | gnomAD-4.0.0 | 1.59481E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86538E-06 | 0 | 0 |
| I/M | 26361 |
Fn3-79 |
76 | rs776297490 |
0.4257 | -2.316 | 0.782 | N | 0.603 | 0.362 | 0.53832913131 | 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 |
| I/M | 26361 |
Fn3-79 |
76 | rs776297490 |
0.4257 | -2.316 | 0.782 | N | 0.603 | 0.362 | 0.53832913131 | gnomAD-4.0.0 | 1.16326E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52925E-05 | 0 | 0 |
| V/A | 26461 |
Fn3-80 |
76 | rs1351446352 |
0.6289 | -2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/A | 26461 |
Fn3-80 |
76 | rs1351446352 |
0.6289 | -2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | 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/A | 26461 |
Fn3-80 |
76 | rs1351446352 |
0.6289 | -2.676 | 0.939 | D | 0.564 | 0.739 | 0.693223118719 | gnomAD-4.0.0 | 6.57808E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| V/I | 26461 |
Fn3-80 |
76 | None | 0.115 | None | 0.76 | D | 0.512 | 0.248 | 0.458013479912 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/A | 26757 |
Fn3-82 |
75 | rs1705638495 |
0.9186 | None | 1.0 | D | 0.656 | 0.798 | 0.79650408869 | 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/D | 26757 |
Fn3-82 |
75 | None | 0.9994 | None | 1.0 | D | 0.89 | 0.866 | 0.907724474544 | 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/L | 26757 |
Fn3-82 |
75 | rs1170675568 |
0.7788 | -1.076 | 0.97 | D | 0.602 | 0.571 | 0.68145362076 | 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 |
| V/L | 26757 |
Fn3-82 |
75 | rs1170675568 |
0.7788 | -1.076 | 0.97 | D | 0.602 | 0.571 | 0.68145362076 | gnomAD-4.0.0 | 2.73706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69867E-06 | 0 | 1.65695E-05 |
| V/L | 27245 |
Fn3-86 |
76 | rs777316227 |
0.841 | -0.81 | 0.997 | N | 0.696 | 0.507 | 0.7647777765 | 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 |
| V/L | 27245 |
Fn3-86 |
76 | rs777316227 |
0.841 | -0.81 | 0.997 | N | 0.696 | 0.507 | 0.7647777765 | gnomAD-4.0.0 | 1.02648E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34925E-05 | 0 | 0 |
| V/A | 27444 |
Fn3-87 |
76 | None | 0.822 | None | 0.939 | D | 0.598 | 0.737 | 0.847812062804 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85837E-06 | 0 | 0 |
| I/V | 27646 |
Fn3-89 |
77 | None | 0.1028 | None | 0.011 | N | 0.202 | 0.064 | 0.313210971179 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85865E-06 | 0 | 0 |
| V/A | 27840 |
Fn3-90 |
75 | rs752446232 |
0.9401 | -2.999 | 1.0 | D | 0.623 | 0.837 | 0.818476300364 | gnomAD-2.1.1 | 2.04E-05 | None | None | None | None | N | None | 0 | 1.47955E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 27840 |
Fn3-90 |
75 | rs752446232 |
0.9401 | -2.999 | 1.0 | D | 0.623 | 0.837 | 0.818476300364 | gnomAD-4.0.0 | 9.60344E-06 | None | None | None | None | N | None | 0 | 1.39121E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 27840 |
Fn3-90 |
75 | None | 0.1061 | None | 0.998 | D | 0.597 | 0.422 | 0.708727380244 | 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 |
| V/A | 27936 |
Fn3-91 |
74 | rs774435769 |
0.8168 | -2.854 | 0.998 | D | 0.686 | 0.757 | 0.797850590631 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.3113E-04 | None | 0 | 0 | 0 |
| V/A | 27936 |
Fn3-91 |
74 | rs774435769 |
0.8168 | -2.854 | 0.998 | D | 0.686 | 0.757 | 0.797850590631 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| V/A | 27936 |
Fn3-91 |
74 | rs774435769 |
0.8168 | -2.854 | 0.998 | D | 0.686 | 0.757 | 0.797850590631 | gnomAD-4.0.0 | 1.66807E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.74938E-04 | 0 |
| V/I | 27936 |
Fn3-91 |
74 | rs1703970661 |
0.1063 | None | 0.729 | N | 0.339 | 0.274 | 0.65404562455 | gnomAD-4.0.0 | 5.47831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19804E-06 | 0 | 0 |
| V/D | 28129 |
Fn3-92 |
75 | None | 0.9967 | None | 0.995 | D | 0.883 | 0.785 | 0.925069995079 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| V/F | 28129 |
Fn3-92 |
75 | rs752974639 |
0.8359 | -1.667 | 0.968 | D | 0.699 | 0.546 | 0.850827110383 | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | N | None | 4.14E-05 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 0 | 6.27E-05 | 0 |
| V/F | 28129 |
Fn3-92 |
75 | rs752974639 |
0.8359 | -1.667 | 0.968 | D | 0.699 | 0.546 | 0.850827110383 | gnomAD-3.1.2 | 3.28E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.77555E-04 |
| V/F | 28129 |
Fn3-92 |
75 | rs752974639 |
0.8359 | -1.667 | 0.968 | D | 0.699 | 0.546 | 0.850827110383 | gnomAD-4.0.0 | 7.06613E-05 | None | None | None | None | N | None | 2.67058E-05 | 1.50105E-04 | None | 0 | 0 | None | 0 | 0 | 7.79906E-05 | 0 | 1.76152E-04 |
| V/A | 28229 |
Fn3-93 |
76 | None | 0.6201 | None | 0.999 | D | 0.675 | 0.784 | 0.796204263899 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/I | 28229 |
Fn3-93 |
76 | rs747518737 |
0.1389 | -0.52 | 0.997 | N | 0.643 | 0.447 | 0.726824630456 | 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/I | 28229 |
Fn3-93 |
76 | rs747518737 |
0.1389 | -0.52 | 0.997 | N | 0.643 | 0.447 | 0.726824630456 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 28327 |
Fn3-94 |
76 | None | 0.1125 | None | 0.37 | N | 0.234 | 0.238 | 0.534814951121 | 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/I | 28525 |
Fn3-95 |
76 | None | 0.1105 | None | 0.997 | N | 0.639 | 0.448 | 0.765028627367 | gnomAD-4.0.0 | 1.59253E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| V/I | 28625 |
Fn3-96 |
76 | None | 0.1078 | None | 0.997 | N | 0.643 | 0.425 | 0.723563167763 | 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 |
| V/I | 28725 |
Fn3-97 |
75 | None | 0.0913 | None | 0.014 | N | 0.237 | 0.172 | 0.581056753333 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 5.65355E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 28725 |
Fn3-97 |
75 | rs1216305497 |
0.7306 | -0.629 | 0.247 | N | 0.527 | 0.524 | 0.565281569661 | 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 |
| V/L | 28725 |
Fn3-97 |
75 | rs1216305497 |
0.7306 | -0.629 | 0.247 | N | 0.527 | 0.524 | 0.565281569661 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/I | 28919 |
Fn3-98 |
75 | None | 0.0857 | None | 0.18 | N | 0.31 | 0.175 | 0.430808444494 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-06 | 0 | 0 |
| V/A | 29015 |
Fn3-99 |
74 | None | 0.8396 | None | 1.0 | D | 0.667 | 0.819 | 0.806032788725 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| V/L | 29015 |
Fn3-99 |
74 | rs1665318547 |
0.7469 | None | 0.995 | N | 0.677 | 0.593 | 0.717325816558 | 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 |
| V/L | 29015 |
Fn3-99 |
74 | rs1665318547 |
0.7469 | None | 0.995 | N | 0.677 | 0.593 | 0.717325816558 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 29015 |
Fn3-99 |
74 | rs1665318547 |
0.8464 | None | 1.0 | D | 0.766 | 0.621 | 0.769067109552 | gnomAD-4.0.0 | 2.18955E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87823E-05 | 0 | 0 |
| I/M | 29212 |
Fn3-100 |
76 | None | 0.4139 | None | 0.995 | N | 0.65 | 0.535 | 0.579560680208 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-06 | 0 | 0 |
| I/V | 29212 |
Fn3-100 |
76 | None | 0.1063 | None | 0.878 | N | 0.271 | 0.192 | 0.277730125212 | 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/E | 29312 |
Fn3-101 |
76 | rs1436898678 |
0.9944 | -3.064 | 0.973 | D | 0.862 | 0.837 | 0.87712895824 | 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/E | 29312 |
Fn3-101 |
76 | rs1436898678 |
0.9944 | -3.064 | 0.973 | D | 0.862 | 0.837 | 0.87712895824 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85775E-06 | 0 | 0 |
| V/M | 29312 |
Fn3-101 |
76 | rs751754225 |
0.8462 | -1.305 | 0.946 | D | 0.811 | 0.661 | 0.675724534598 | 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/M | 29312 |
Fn3-101 |
76 | rs751754225 |
0.8462 | -1.305 | 0.946 | D | 0.811 | 0.661 | 0.675724534598 | gnomAD-4.0.0 | 3.18203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71553E-06 | 0 | 0 |
| V/A | 29410 |
Fn3-102 |
76 | None | 0.7877 | None | 0.999 | D | 0.669 | 0.798 | 0.803732359025 | 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/G | 29708 |
Fn3-104 |
76 | None | 0.8853 | None | 0.964 | D | 0.816 | 0.761 | 0.906977160548 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 29708 |
Fn3-104 |
76 | None | 0.8111 | None | 0.863 | D | 0.597 | 0.587 | 0.815628326125 | 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/I | 29810 |
Fn3-105 |
77 | rs745716789 |
0.0992 | -0.864 | 0.997 | D | 0.65 | 0.377 | 0.746583782714 | 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 |
| V/I | 29810 |
Fn3-105 |
77 | rs745716789 |
0.0992 | -0.864 | 0.997 | D | 0.65 | 0.377 | 0.746583782714 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/A | 30007 |
Fn3-106 |
75 | None | 0.927 | None | 0.999 | D | 0.624 | 0.803 | 0.815397466254 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/L | 30299 |
Fn3-108 |
76 | rs774161568 |
0.6783 | -0.737 | 0.76 | N | 0.526 | 0.537 | 0.540288329166 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.05212E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | 30299 |
Fn3-108 |
76 | rs774161568 |
0.6783 | -0.737 | 0.76 | N | 0.526 | 0.537 | 0.540288329166 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.861E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | 30299 |
Fn3-108 |
76 | rs774161568 |
0.6783 | -0.737 | 0.76 | N | 0.526 | 0.537 | 0.540288329166 | gnomAD-4.0.0 | 6.4142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.21324E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 30399 |
Fn3-109 |
76 | rs368264432 |
0.4764 | None | 0.999 | D | 0.619 | 0.819 | None | 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 |
| I/V | 30496 |
Fn3-110 |
75 | None | 0.0638 | None | None | N | 0.209 | 0.088 | 0.247322355667 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8594E-06 | 0 | 0 |
| V/I | 30694 |
Fn3-111 |
76 | rs1301174075 |
0.0684 | -0.891 | None | D | 0.185 | 0.191 | 0.440288351245 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/A | 30795 |
Fn3-112 |
77 | rs1415270216 |
0.6932 | -2.597 | 0.928 | D | 0.692 | 0.782 | 0.788476339101 | 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/A | 30795 |
Fn3-112 |
77 | rs1415270216 |
0.6932 | -2.597 | 0.928 | D | 0.692 | 0.782 | 0.788476339101 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 8.99421E-07 | 0 | 0 |
| V/I | 30795 |
Fn3-112 |
77 | rs369025866 |
0.1308 | -0.701 | 0.039 | N | 0.322 | 0.267 | 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 |
| V/I | 30795 |
Fn3-112 |
77 | rs369025866 |
0.1308 | -0.701 | 0.039 | N | 0.322 | 0.267 | 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 |
| V/I | 30795 |
Fn3-112 |
77 | rs369025866 |
0.1308 | -0.701 | 0.039 | N | 0.322 | 0.267 | None | gnomAD-4.0.0 | 9.29489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27134E-05 | 0 | 0 |
| V/L | 30795 |
Fn3-112 |
77 | rs369025866 |
0.7563 | None | 0.476 | N | 0.646 | 0.568 | 0.657895878264 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/L | 30795 |
Fn3-112 |
77 | rs369025866 |
0.7563 | None | 0.476 | N | 0.646 | 0.568 | 0.657895878264 | gnomAD-4.0.0 | 1.23932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09786E-05 | 1.60108E-05 |
| V/I | 31090 |
Fn3-114 |
75 | rs886044086 |
0.096 | -0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 31090 |
Fn3-114 |
75 | rs886044086 |
0.096 | -0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | 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 |
| V/I | 31090 |
Fn3-114 |
75 | rs886044086 |
0.096 | -0.83 | 0.981 | D | 0.567 | 0.38 | 0.706703231723 | gnomAD-4.0.0 | 6.57212E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 31383 |
Fn3-116 |
76 | rs1336482759 |
0.0876 | None | 0.016 | D | 0.336 | 0.224 | 0.417971555824 | 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 |
| V/I | 31383 |
Fn3-116 |
76 | rs1336482759 |
0.0876 | None | 0.016 | D | 0.336 | 0.224 | 0.417971555824 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46964E-05 | 0 | 0 |
| V/A | 31584 |
Fn3-118 |
79 | rs1224689157 |
0.8508 | -2.893 | 0.928 | D | 0.675 | 0.671 | 0.753032484505 | 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/A | 31584 |
Fn3-118 |
79 | rs1224689157 |
0.8508 | -2.893 | 0.928 | D | 0.675 | 0.671 | 0.753032484505 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 31584 |
Fn3-118 |
79 | None | 0.8871 | None | 0.978 | D | 0.846 | 0.594 | 0.597040176542 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8586E-06 | 0 | 0 |
| V/L | 31782 |
Fn3-119 |
75 | rs377076423 |
0.5354 | -1.282 | 0.117 | D | 0.303 | 0.545 | 0.647671066071 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11396E-04 | None | 0 | None | 0 | 0 | 0 |
| V/L | 31782 |
Fn3-119 |
75 | rs377076423 |
0.5354 | -1.282 | 0.117 | D | 0.303 | 0.545 | 0.647671066071 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.03905E-05 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| V/M | 31782 |
Fn3-119 |
75 | rs377076423 |
0.676 | -1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23967E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | 31782 |
Fn3-119 |
75 | rs377076423 |
0.676 | -1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 31782 |
Fn3-119 |
75 | rs377076423 |
0.676 | -1.749 | 0.993 | D | 0.723 | 0.669 | None | gnomAD-4.0.0 | 3.09833E-06 | None | None | None | None | N | None | 6.67361E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 31883 |
Fn3-120 |
77 | rs72648262 |
0.8589 | -1.54 | 1.0 | D | 0.835 | 0.648 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| V/M | 31883 |
Fn3-120 |
77 | rs72648262 |
0.8589 | -1.54 | 1.0 | D | 0.835 | 0.648 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 4.78469E-04 |
| V/M | 31883 |
Fn3-120 |
77 | rs72648262 |
0.8589 | -1.54 | 1.0 | D | 0.835 | 0.648 | None | gnomAD-4.0.0 | 2.43639E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.51671E-04 | 3.83511E-05 | 0 | 2.84463E-05 |
| V/D | 31985 |
Fn3-121 |
77 | rs1242003251 |
0.9977 | -3.324 | 1.0 | D | 0.907 | 0.802 | 0.914900559549 | 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 |
| V/D | 31985 |
Fn3-121 |
77 | rs1242003251 |
0.9977 | -3.324 | 1.0 | D | 0.907 | 0.802 | 0.914900559549 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| V/I | 31985 |
Fn3-121 |
77 | rs373484878 |
0.1062 | -0.743 | 0.997 | D | 0.624 | 0.402 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 31985 |
Fn3-121 |
77 | rs373484878 |
0.1062 | -0.743 | 0.997 | D | 0.624 | 0.402 | None | gnomAD-4.0.0 | 4.05982E-06 | None | None | None | None | N | None | 6.9891E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | 32179 |
Fn3-122 |
75 | rs727505082 |
0.8354 | -1.519 | 1.0 | D | 0.763 | 0.728 | 0.747598145101 | 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 |
| V/M | 32179 |
Fn3-122 |
75 | rs727505082 |
0.8354 | -1.519 | 1.0 | D | 0.763 | 0.728 | 0.747598145101 | gnomAD-4.0.0 | 1.02636E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34922E-05 | 0 | 0 |
| I/V | 32277 |
Fn3-123 |
76 | rs2154143314 |
0.0729 | None | None | N | 0.135 | 0.105 | 0.237489013734 | gnomAD-4.0.0 | 7.96582E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.16538E-05 | 0 |
| V/M | 32474 |
Fn3-124 |
76 | rs763649965 |
0.8317 | -1.457 | 0.942 | D | 0.626 | 0.678 | 0.710806825143 | 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 |
| V/M | 32474 |
Fn3-124 |
76 | rs763649965 |
0.8317 | -1.457 | 0.942 | D | 0.626 | 0.678 | 0.710806825143 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85964E-06 | 0 | 0 |
| V/F | 32574 |
Fn3-125 |
76 | None | 0.8639 | None | 0.782 | D | 0.721 | 0.667 | 0.72613263291 | gnomAD-4.0.0 | 6.92741E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.67543E-05 |
| V/I | 32675 |
Fn3-126 |
76 | rs576274929 |
0.0866 | -0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-2.1.1 | 5.63E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 9.78E-05 | 0 |
| V/I | 32675 |
Fn3-126 |
76 | rs576274929 |
0.0866 | -0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 1.96309E-04 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | 32675 |
Fn3-126 |
76 | rs576274929 |
0.0866 | -0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | 32675 |
Fn3-126 |
76 | rs576274929 |
0.0866 | -0.888 | 0.075 | N | 0.249 | 0.115 | 0.430351802785 | gnomAD-4.0.0 | 2.04529E-05 | None | None | None | None | N | None | 2.66567E-05 | 6.66467E-05 | None | 0 | 2.22846E-05 | None | 0 | 0 | 1.78047E-05 | 3.29475E-05 | 3.20092E-05 |
| V/L | 32675 |
Fn3-126 |
76 | None | 0.5333 | None | 0.036 | N | 0.317 | 0.331 | 0.420447328233 | gnomAD-4.0.0 | 6.84384E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99726E-07 | 0 | 0 |
| I/T | 32972 |
Fn3-128 |
77 | None | 0.9464 | None | 0.896 | D | 0.531 | 0.448 | 0.706878895572 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85871E-06 | 0 | 0 |
| I/V | 32972 |
Fn3-128 |
77 | None | 0.0983 | None | 0.004 | N | 0.23 | 0.082 | 0.167679373172 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79902E-06 | 0 | 0 |
| V/A | 33073 |
Fn3-129 |
76 | None | 0.7773 | None | 0.994 | D | 0.589 | 0.781 | 0.771421751781 | gnomAD-4.0.0 | 3.18287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71723E-06 | 0 | 0 |
| V/F | 33366 |
Fn3-130 |
77 | None | 0.9716 | None | 1.0 | D | 0.83 | 0.845 | 0.90526506023 | gnomAD-4.0.0 | 6.84472E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99653E-07 | 0 | 0 |
| V/I | 33366 |
Fn3-130 |
77 | rs55675869 |
0.147 | -0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-2.1.1 | 2.76972E-02 | None | None | None | None | N | None | 4.81009E-03 | 3.32632E-02 | None | 1.49341E-02 | 6.60076E-02 | None | 6.61271E-03 | None | 6.40224E-02 | 2.35469E-02 | 2.87892E-02 |
| V/I | 33366 |
Fn3-130 |
77 | rs55675869 |
0.147 | -0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-3.1.2 | 2.15954E-02 | None | None | None | None | N | None | 4.48842E-03 | 2.16737E-02 | 3.07018E-02 | 1.95853E-02 | 6.38996E-02 | None | 6.16877E-02 | 6.32911E-03 | 2.35337E-02 | 8.90269E-03 | 1.95985E-02 |
| V/I | 33366 |
Fn3-130 |
77 | rs55675869 |
0.147 | -0.56 | 0.997 | N | 0.605 | 0.31 | None | 1000 genomes | 2.31629E-02 | None | None | None | None | N | None | 8E-04 | 2.45E-02 | None | None | 6.25E-02 | 2.78E-02 | None | None | None | 7.2E-03 | None |
| V/I | 33366 |
Fn3-130 |
77 | rs55675869 |
0.147 | -0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-4.0.0 | 2.36062E-02 | None | None | None | None | N | None | 4.29276E-03 | 2.92046E-02 | None | 1.52744E-02 | 6.39807E-02 | None | 6.25782E-02 | 1.0066E-02 | 2.24961E-02 | 7.29052E-03 | 2.24165E-02 |
| V/G | 33467 |
Fn3-131 |
76 | rs200166942 |
0.8607 | -3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-2.1.1 | 3.07187E-04 | None | None | None | None | N | None | 1.24028E-04 | 1.7001E-04 | None | 6.76721E-04 | 0 | None | 0 | None | 0 | 5.39197E-04 | 1.40726E-04 |
| V/G | 33467 |
Fn3-131 |
76 | rs200166942 |
0.8607 | -3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-3.1.2 | 4.40129E-04 | None | None | None | None | N | None | 7.24E-05 | 8.50674E-04 | 0 | 5.76037E-04 | 0 | None | 0 | 0 | 6.90831E-04 | 0 | 9.56023E-04 |
| V/G | 33467 |
Fn3-131 |
76 | rs200166942 |
0.8607 | -3.643 | 1.0 | D | 0.867 | 0.861 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| V/G | 33467 |
Fn3-131 |
76 | rs200166942 |
0.8607 | -3.643 | 1.0 | D | 0.867 | 0.861 | None | gnomAD-4.0.0 | 5.33519E-04 | None | None | None | None | N | None | 3.99744E-05 | 3.49965E-04 | None | 7.76975E-04 | 0 | None | 0 | 6.59848E-04 | 6.59437E-04 | 0 | 5.12197E-04 |
| V/L | 33467 |
Fn3-131 |
76 | None | 0.7948 | None | 0.997 | N | 0.703 | 0.647 | 0.648148160414 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 33762 |
Fn3-132 |
74 | rs1385559568 |
0.1216 | None | 0.003 | N | 0.203 | 0.151 | 0.433047596574 | 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 |
| V/I | 33762 |
Fn3-132 |
74 | rs1385559568 |
0.1216 | None | 0.003 | N | 0.203 | 0.151 | 0.433047596574 | gnomAD-4.0.0 | 2.47863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39026E-06 | 0 | 0 |
| V/L | 33762 |
Fn3-132 |
74 | rs1385559568 |
0.8 | None | 0.001 | N | 0.321 | 0.311 | 0.532359089423 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79886E-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.