Structural position:
- Domain Type: Fn3
- Aligned Position: 98
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 15824 |
Fn3-2 |
67 | None | 0.1875 | None | 0.948 | N | 0.384 | 0.273 | 0.513280433867 | gnomAD-4.0.0 | 4.78054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.726E-06 | 1.43349E-05 | 0 |
| E/K | 15925 |
Fn3-3 |
67 | None | 0.0799 | None | None | N | 0.101 | 0.088 | 0.0762999501168 | gnomAD-4.0.0 | 7.15785E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.24996E-07 | 0 | 0 |
| V/A | 16120 |
Fn3-4 |
66 | rs745999025 |
0.2043 | -1.528 | None | N | 0.091 | 0.135 | 0.330069100803 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | 16120 |
Fn3-4 |
66 | rs745999025 |
0.2043 | -1.528 | None | N | 0.091 | 0.135 | 0.330069100803 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 16120 |
Fn3-4 |
66 | rs745999025 |
0.2043 | -1.528 | None | N | 0.091 | 0.135 | 0.330069100803 | gnomAD-4.0.0 | 5.07592E-06 | None | None | None | None | N | None | 6.99423E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20507E-06 | 0 | 0 |
| E/K | 16220 |
Fn3-5 |
66 | rs2057034942 |
0.1951 | None | 0.006 | N | 0.091 | 0.166 | 0.253726318573 | gnomAD-4.0.0 | 1.63263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92759E-06 | 0 | 0 |
| T/I | 16516 |
Fn3-7 |
67 | rs1373830216 |
0.2969 | None | 0.006 | N | 0.179 | 0.19 | 0.243972157842 | 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 |
| T/I | 16516 |
Fn3-7 |
67 | rs1373830216 |
0.2969 | None | 0.006 | N | 0.179 | 0.19 | 0.243972157842 | gnomAD-4.0.0 | 4.97044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78994E-06 | 0 | 0 |
| M/I | 16616 |
Fn3-8 |
66 | rs2056601622 |
0.5121 | None | 0.985 | N | 0.454 | 0.335 | 0.48300943003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/I | 16616 |
Fn3-8 |
66 | rs2056601622 |
0.5121 | None | 0.985 | N | 0.454 | 0.335 | 0.48300943003 | gnomAD-4.0.0 | 6.5825E-06 | None | None | None | None | N | None | 2.41534E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/L | 16616 |
Fn3-8 |
66 | rs1284104551 |
0.178 | -0.318 | 0.927 | N | 0.243 | 0.342 | 0.443797312901 | 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 |
| M/L | 16616 |
Fn3-8 |
66 | rs1284104551 |
0.178 | -0.318 | 0.927 | N | 0.243 | 0.342 | 0.443797312901 | gnomAD-4.0.0 | 1.59378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| M/T | 16616 |
Fn3-8 |
66 | rs1428945132 |
0.3005 | -0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| M/T | 16616 |
Fn3-8 |
66 | rs1428945132 |
0.3005 | -0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | 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 |
| M/T | 16616 |
Fn3-8 |
66 | rs1428945132 |
0.3005 | -0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | gnomAD-4.0.0 | 2.03049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41018E-06 | 0 | 0 |
| I/F | 16817 |
Fn3-10 |
67 | rs2056387870 |
0.3616 | None | 1.0 | N | 0.641 | 0.253 | 0.448597761117 | gnomAD-4.0.0 | 3.18618E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72298E-06 | 0 | 0 |
| V/A | 16919 |
Fn3-11 |
68 | rs757845759 |
0.2367 | None | 0.977 | N | 0.414 | 0.233 | 0.465038187318 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| V/F | 16919 |
Fn3-11 |
68 | rs2056315018 |
0.2021 | None | 0.993 | N | 0.745 | 0.295 | 0.511677802314 | gnomAD-4.0.0 | 1.36905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79955E-06 | 0 | 0 |
| I/L | 17112 |
Fn3-12 |
66 | None | 0.1777 | None | 0.993 | N | 0.259 | 0.27 | 0.545825192673 | gnomAD-4.0.0 | 6.84859E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00357E-07 | 0 | 0 |
| I/T | 17112 |
Fn3-12 |
66 | rs776500262 |
0.8154 | -0.785 | 1.0 | N | 0.597 | 0.402 | 0.613098244845 | 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 |
| I/T | 17112 |
Fn3-12 |
66 | rs776500262 |
0.8154 | -0.785 | 1.0 | N | 0.597 | 0.402 | 0.613098244845 | gnomAD-4.0.0 | 4.79143E-06 | None | None | None | None | N | None | 5.98516E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79957E-06 | 3.47883E-05 | 0 |
| E/Q | 17213 |
Fn3-13 |
67 | None | 0.1163 | None | 0.92 | N | 0.427 | 0.178 | 0.329282125956 | gnomAD-4.0.0 | 8.21406E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.0798E-05 | 0 | 0 |
| I/M | 17436 |
Fn3-14 |
68 | None | 0.0971 | None | 0.983 | N | 0.469 | 0.245 | 0.382087116544 | gnomAD-4.0.0 | 6.84743E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99891E-07 | 0 | 0 |
| I/T | 17436 |
Fn3-14 |
68 | rs774439701 |
0.1348 | -0.855 | 0.025 | N | 0.25 | 0.228 | 0.37550373646 | 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 | 17436 |
Fn3-14 |
68 | rs774439701 |
0.1348 | -0.855 | 0.025 | N | 0.25 | 0.228 | 0.37550373646 | gnomAD-4.0.0 | 9.58649E-06 | None | None | None | None | N | None | 2.99365E-05 | 0 | None | 0 | 7.60803E-05 | None | 0 | 0 | 2.69968E-06 | 8.11971E-05 | 0 |
| I/V | 17436 |
Fn3-14 |
68 | None | 0.1131 | None | 0.426 | N | 0.304 | 0.18 | 0.347438807231 | gnomAD-4.0.0 | 1.59418E-06 | None | None | None | None | N | None | 0 | 2.29064E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 17535 |
Fn3-15 |
66 | None | 0.1841 | None | 0.992 | N | 0.403 | 0.23 | 0.346315397577 | gnomAD-4.0.0 | 1.59531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88658E-05 | 0 | 0 | 0 | 0 |
| R/L | 17635 |
Fn3-16 |
67 | rs773522736 |
0.3849 | 0.423 | 1.0 | N | 0.595 | 0.357 | 0.481172606772 | 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 |
| R/L | 17635 |
Fn3-16 |
67 | rs773522736 |
0.3849 | 0.423 | 1.0 | N | 0.595 | 0.357 | 0.481172606772 | 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 |
| R/Q | 17635 |
Fn3-16 |
67 | rs773522736 |
0.1719 | -0.056 | 1.0 | N | 0.703 | 0.316 | 0.243398259712 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/Q | 17635 |
Fn3-16 |
67 | rs773522736 |
0.1719 | -0.056 | 1.0 | N | 0.703 | 0.316 | 0.243398259712 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | 17635 |
Fn3-16 |
67 | rs773522736 |
0.1719 | -0.056 | 1.0 | N | 0.703 | 0.316 | 0.243398259712 | gnomAD-4.0.0 | 8.05993E-06 | None | None | None | None | N | None | 4.00716E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63156E-06 | 0 | 1.60236E-05 |
| L/V | 17828 |
Fn3-17 |
65 | None | 0.1406 | None | None | N | 0.12 | 0.044 | 0.0986583533028 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/G | 17928 |
Fn3-18 |
67 | None | 0.1926 | None | 0.669 | N | 0.355 | 0.221 | 0.219573609325 | 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/N | 18132 |
Fn3-19 |
68 | rs769730131 |
0.2027 | -0.535 | 0.642 | N | 0.385 | 0.183 | 0.644471222209 | gnomAD-2.1.1 | 6.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.42E-05 | None | 0 | None | 0 | 0 | 0 |
| I/N | 18132 |
Fn3-19 |
68 | rs769730131 |
0.2027 | -0.535 | 0.642 | N | 0.385 | 0.183 | 0.644471222209 | gnomAD-4.0.0 | 2.09592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.00625E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 18132 |
Fn3-19 |
68 | None | 0.2319 | None | 0.01 | N | 0.107 | 0.149 | 0.53600533864 | gnomAD-4.0.0 | 4.19184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.00625E-05 | None | 0 | 0 | 3.64631E-06 | 0 | 0 |
| L/P | 18237 |
Fn3-20 |
72 | rs201412693 |
0.4574 | -0.639 | 0.013 | N | 0.341 | 0.09 | None | gnomAD-2.1.1 | 6.42972E-04 | None | None | None | None | N | None | 2.06937E-04 | 6.22242E-04 | None | 0 | 0 | None | 0 | None | 1.19942E-04 | 1.12554E-03 | 8.42933E-04 |
| L/P | 18237 |
Fn3-20 |
72 | rs201412693 |
0.4574 | -0.639 | 0.013 | N | 0.341 | 0.09 | None | gnomAD-3.1.2 | 6.12076E-04 | None | None | None | None | N | None | 2.41464E-04 | 4.59619E-04 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 1.08926E-03 | 0 | 4.78469E-04 |
| L/P | 18237 |
Fn3-20 |
72 | rs201412693 |
0.4574 | -0.639 | 0.013 | N | 0.341 | 0.09 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 4E-03 | None | None | None | 0 | None |
| L/P | 18237 |
Fn3-20 |
72 | rs201412693 |
0.4574 | -0.639 | 0.013 | N | 0.341 | 0.09 | None |
Rees (2021)
| None |
CNM
|
comp het with D32441Ffs*1, W35453* | None | None | N | Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro (Tm 17 degrees lower than WT) | None | None | None | None | None | None | None | None | None | None | None |
| L/P | 18237 |
Fn3-20 |
72 | rs201412693 |
0.4574 | -0.639 | 0.013 | N | 0.341 | 0.09 | None | gnomAD-4.0.0 | 9.12083E-04 | None | None | None | None | N | None | 1.73449E-04 | 4.83704E-04 | None | 0 | 0 | None | 1.09358E-04 | 1.65344E-04 | 1.1746E-03 | 1.09868E-05 | 5.60592E-04 |
| L/R | 18237 |
Fn3-20 |
72 | rs201412693 |
0.276 | 0.001 | 0.007 | N | 0.32 | 0.129 | 0.554235320232 | 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 |
| L/R | 18237 |
Fn3-20 |
72 | rs201412693 |
0.276 | 0.001 | 0.007 | N | 0.32 | 0.129 | 0.554235320232 | gnomAD-4.0.0 | 1.1638E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52988E-05 | 0 | 0 |
| L/P | 18544 |
Fn3-22 |
66 | None | 0.5585 | None | 0.859 | N | 0.644 | 0.464 | 0.713293215259 | gnomAD-4.0.0 | 4.78141E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.36353E-05 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 18544 |
Fn3-22 |
66 | rs924109444 |
0.0971 | None | 0.004 | N | 0.138 | 0.074 | 0.19670166235 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 3.28947E-03 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | 18544 |
Fn3-22 |
66 | rs924109444 |
0.0971 | None | 0.004 | N | 0.138 | 0.074 | 0.19670166235 | gnomAD-4.0.0 | 1.97384E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | 18650 |
Fn3-23 |
72 | rs1459999072 |
0.0833 | None | 0.005 | N | 0.219 | 0.052 | 0.124217242631 | 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 | 18650 |
Fn3-23 |
72 | rs1459999072 |
0.0833 | None | 0.005 | N | 0.219 | 0.052 | 0.124217242631 | gnomAD-4.0.0 | 1.24003E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23454E-05 | None | 0 | 0 | 8.47952E-07 | 0 | 0 |
| V/E | 18650 |
Fn3-23 |
72 | rs1459999072 |
0.1098 | None | 0.012 | N | 0.319 | 0.06 | 0.180583059064 | gnomAD-4.0.0 | 6.84505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65722E-05 |
| L/P | 18850 |
Fn3-24 |
67 | None | 0.7537 | None | 0.989 | N | 0.415 | 0.324 | 0.663006186912 | gnomAD-4.0.0 | 1.75332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.74752E-05 | 0 |
| I/T | 18954 |
Fn3-25 |
71 | rs1411922083 |
0.1529 | -0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | 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 |
| I/T | 18954 |
Fn3-25 |
71 | rs1411922083 |
0.1529 | -0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | 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/T | 18954 |
Fn3-25 |
71 | rs1411922083 |
0.1529 | -0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | gnomAD-4.0.0 | 4.33902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93453E-06 | 0 | 0 |
| I/T | 19249 |
Fn3-27 |
67 | rs2051354883 |
0.1388 | None | 0.051 | N | 0.182 | 0.172 | 0.451407941134 | gnomAD-4.0.0 | 1.63883E-06 | None | None | None | None | N | None | 0 | 2.43072E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | 19249 |
Fn3-27 |
67 | None | 0.0847 | None | 0.454 | N | 0.304 | 0.092 | 0.399449838166 | gnomAD-4.0.0 | 3.2748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93701E-06 | 1.49799E-05 | 0 |
| L/I | 19645 |
Fn3-30 |
67 | None | 0.1258 | None | 0.464 | N | 0.35 | 0.178 | 0.241664281697 | gnomAD-4.0.0 | 6.84357E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99611E-07 | 0 | 0 |
| R/Q | 19748 |
Fn3-31 |
69 | rs142791877 |
0.0812 | -0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 3.91E-05 | 0 |
| R/Q | 19748 |
Fn3-31 |
69 | rs142791877 |
0.0812 | -0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94553E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | 19748 |
Fn3-31 |
69 | rs142791877 |
0.0812 | -0.074 | 0.806 | N | 0.175 | 0.196 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/Q | 19748 |
Fn3-31 |
69 | rs142791877 |
0.0812 | -0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-4.0.0 | 1.92142E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46628E-05 | None | 0 | 0 | 2.11942E-05 | 4.39309E-05 | 0 |
| R/W | 19748 |
Fn3-31 |
69 | rs780429608 |
0.1399 | -0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 1.24008E-04 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 1.56E-05 | 0 |
| R/W | 19748 |
Fn3-31 |
69 | rs780429608 |
0.1399 | -0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | N | None | 2.17339E-04 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/W | 19748 |
Fn3-31 |
69 | rs780429608 |
0.1399 | -0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-4.0.0 | 1.48761E-05 | None | None | None | None | N | None | 2.00369E-04 | 0 | None | 0 | 4.46409E-05 | None | 0 | 0 | 5.08653E-06 | 0 | 1.60138E-05 |
| Q/R | 20237 |
Fn3-34 |
67 | None | 0.1255 | None | 0.549 | N | 0.447 | 0.166 | 0.148003135375 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85977E-06 | 0 | 0 |
| Y/C | 20336 |
Fn3-35 |
66 | rs1471127612 |
0.1202 | 0.09 | 0.999 | N | 0.609 | 0.323 | 0.410469974859 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.44828E-03 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | 20336 |
Fn3-35 |
66 | rs1471127612 |
0.1202 | 0.09 | 0.999 | N | 0.609 | 0.323 | 0.410469974859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | 20336 |
Fn3-35 |
66 | rs1471127612 |
0.1202 | 0.09 | 0.999 | N | 0.609 | 0.323 | 0.410469974859 | gnomAD-4.0.0 | 6.57488E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | 20438 |
Fn3-36 |
68 | rs756962314 |
0.18 | -0.4 | 0.016 | N | 0.229 | 0.16 | 0.403328974453 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| I/N | 20438 |
Fn3-36 |
68 | rs756962314 |
0.18 | -0.4 | 0.016 | N | 0.229 | 0.16 | 0.403328974453 | gnomAD-4.0.0 | 6.86211E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 20438 |
Fn3-36 |
68 | rs756962314 |
0.0804 | -0.901 | 0.028 | N | 0.121 | 0.199 | None | gnomAD-2.1.1 | 2.05E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 6.85E-05 | None | 0 | 1.81E-05 | 0 |
| I/T | 20438 |
Fn3-36 |
68 | rs756962314 |
0.0804 | -0.901 | 0.028 | N | 0.121 | 0.199 | None | gnomAD-4.0.0 | 8.92074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.57959E-05 | None | 0 | 0 | 3.60305E-06 | 7.05318E-05 | 0 |
| L/S | 20633 |
Fn3-37 |
65 | rs1227248928 |
0.3331 | -3.39 | 0.549 | N | 0.599 | 0.153 | 0.634365452782 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| L/S | 20633 |
Fn3-37 |
65 | rs1227248928 |
0.3331 | -3.39 | 0.549 | N | 0.599 | 0.153 | 0.634365452782 | gnomAD-4.0.0 | 6.15877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09623E-06 | 0 | 0 |
| V/I | 20734 |
Fn3-38 |
67 | None | 0.0692 | None | 0.022 | N | 0.093 | 0.167 | 0.330331372229 | 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 | 20929 |
Fn3-39 |
66 | rs794729471 |
0.3526 | -0.701 | 0.961 | N | 0.485 | 0.301 | 0.573582730237 | 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 |
| I/T | 20929 |
Fn3-39 |
66 | rs794729471 |
0.3526 | -0.701 | 0.961 | N | 0.485 | 0.301 | 0.573582730237 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 20929 |
Fn3-39 |
66 | rs794729471 |
0.3526 | -0.701 | 0.961 | N | 0.485 | 0.301 | 0.573582730237 | gnomAD-4.0.0 | 3.72063E-06 | None | None | None | None | N | None | 2.67187E-05 | 0 | None | 3.37929E-05 | 0 | None | 0 | 0 | 2.54361E-06 | 0 | 0 |
| L/F | 21029 |
Fn3-40 |
67 | None | 0.1575 | None | 0.001 | N | 0.06 | 0.087 | 0.246773566709 | gnomAD-4.0.0 | 1.60851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88058E-06 | 0 | 0 |
| L/P | 21029 |
Fn3-40 |
67 | None | 0.6808 | None | 0.912 | N | 0.399 | 0.282 | 0.71646297227 | gnomAD-4.0.0 | 1.37496E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80349E-06 | 0 | 0 |
| D/E | 21136 |
Fn3-41 |
73 | rs1047829961 |
0.1374 | None | 0.014 | N | 0.238 | 0.07 | 0.124217242631 | gnomAD-4.0.0 | 6.8466E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99794E-07 | 0 | 0 |
| D/G | 21136 |
Fn3-41 |
73 | rs773075736 |
0.1695 | -1.083 | 0.822 | D | 0.519 | 0.288 | 0.233785782151 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| D/G | 21136 |
Fn3-41 |
73 | rs773075736 |
0.1695 | -1.083 | 0.822 | D | 0.519 | 0.288 | 0.233785782151 | gnomAD-4.0.0 | 4.78097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58458E-06 | 0 | 0 |
| D/N | 21136 |
Fn3-41 |
73 | rs762901628 |
0.0987 | -1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| D/N | 21136 |
Fn3-41 |
73 | rs762901628 |
0.0987 | -1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| D/N | 21136 |
Fn3-41 |
73 | rs762901628 |
0.0987 | -1.26 | 0.942 | N | 0.511 | 0.22 | 0.226586394389 | gnomAD-4.0.0 | 1.24021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56372E-05 | 0 | 8.47929E-07 | 0 | 0 |
| V/A | 21331 |
Fn3-42 |
66 | rs756494781 |
0.253 | None | 0.003 | N | 0.077 | 0.087 | 0.363751660372 | 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 | 21331 |
Fn3-42 |
66 | rs756494781 |
0.253 | None | 0.003 | N | 0.077 | 0.087 | 0.363751660372 | gnomAD-4.0.0 | 5.57917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63052E-06 | 0 | 0 |
| V/G | 21331 |
Fn3-42 |
66 | rs756494781 |
0.3054 | -1.655 | 0.521 | N | 0.388 | 0.297 | 0.589755004127 | 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/G | 21331 |
Fn3-42 |
66 | rs756494781 |
0.3054 | -1.655 | 0.521 | N | 0.388 | 0.297 | 0.589755004127 | gnomAD-4.0.0 | 2.05318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99679E-07 | 2.31889E-05 | 0 |
| K/R | 21432 |
Fn3-43 |
67 | rs1297397587 |
0.0882 | -0.02 | 0.998 | N | 0.505 | 0.255 | 0.47558534428 | 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 |
| K/R | 21432 |
Fn3-43 |
67 | rs1297397587 |
0.0882 | -0.02 | 0.998 | N | 0.505 | 0.255 | 0.47558534428 | 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 |
| K/R | 21432 |
Fn3-43 |
67 | rs1297397587 |
0.0882 | -0.02 | 0.998 | N | 0.505 | 0.255 | 0.47558534428 | gnomAD-4.0.0 | 7.43908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32657E-06 | 0 | 1.602E-05 |
| I/N | 21625 |
Fn3-44 |
67 | None | 0.1583 | None | 0.81 | N | 0.446 | 0.189 | 0.633365762502 | gnomAD-4.0.0 | 2.05297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69882E-06 | 0 | 0 |
| I/T | 21625 |
Fn3-44 |
67 | rs1318752166 |
0.1402 | -0.867 | 0.007 | N | 0.134 | 0.11 | 0.475192790171 | 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 |
| I/T | 21625 |
Fn3-44 |
67 | rs1318752166 |
0.1402 | -0.867 | 0.007 | N | 0.134 | 0.11 | 0.475192790171 | gnomAD-4.0.0 | 6.84322E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15955E-05 | 0 |
| V/A | 21725 |
Fn3-45 |
67 | rs543828787 |
0.2375 | -1.257 | 0.334 | N | 0.357 | 0.223 | 0.545173277474 | gnomAD-2.1.1 | 1.20937E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81033E-04 | None | 0 | 0 | 0 |
| V/A | 21725 |
Fn3-45 |
67 | rs543828787 |
0.2375 | -1.257 | 0.334 | N | 0.357 | 0.223 | 0.545173277474 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.28844E-04 | 0 |
| V/A | 21725 |
Fn3-45 |
67 | rs543828787 |
0.2375 | -1.257 | 0.334 | N | 0.357 | 0.223 | 0.545173277474 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/A | 21725 |
Fn3-45 |
67 | rs543828787 |
0.2375 | -1.257 | 0.334 | N | 0.357 | 0.223 | 0.545173277474 | gnomAD-4.0.0 | 6.07453E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.88598E-04 | 1.2809E-04 |
| V/I | 21725 |
Fn3-45 |
67 | rs368716894 |
0.0785 | -0.395 | 0.002 | N | 0.104 | 0.085 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.49E-05 | 0 |
| V/I | 21725 |
Fn3-45 |
67 | rs368716894 |
0.0785 | -0.395 | 0.002 | N | 0.104 | 0.085 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/I | 21725 |
Fn3-45 |
67 | rs368716894 |
0.0785 | -0.395 | 0.002 | N | 0.104 | 0.085 | None | gnomAD-4.0.0 | 7.19086E-05 | None | None | None | None | N | None | 2.67051E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.98701E-05 | 0 | 1.28135E-04 |
| V/L | 21725 |
Fn3-45 |
67 | rs368716894 |
0.1722 | None | 0.036 | N | 0.231 | 0.05 | 0.211220785272 | gnomAD-4.0.0 | 3.4221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49844E-06 | 0 | 0 |
| I/L | 22021 |
Fn3-47 |
66 | rs1423136139 |
0.2274 | None | 0.003 | N | 0.121 | 0.207 | 0.243398259712 | 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/L | 22021 |
Fn3-47 |
66 | rs1423136139 |
0.2274 | None | 0.003 | N | 0.121 | 0.207 | 0.243398259712 | gnomAD-4.0.0 | 1.86014E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54377E-06 | 0 | 0 |
| I/M | 22021 |
Fn3-47 |
66 | None | 0.2432 | None | 0.901 | N | 0.509 | 0.27 | 0.290222751274 | gnomAD-4.0.0 | 4.10746E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.8006E-05 | 1.65782E-05 |
| I/T | 22021 |
Fn3-47 |
66 | rs774090305 |
0.7 | -1.238 | 0.722 | N | 0.505 | 0.351 | 0.469415673434 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | 22021 |
Fn3-47 |
66 | rs774090305 |
0.7 | -1.238 | 0.722 | N | 0.505 | 0.351 | 0.469415673434 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | 22021 |
Fn3-47 |
66 | rs774090305 |
0.7 | -1.238 | 0.722 | N | 0.505 | 0.351 | 0.469415673434 | gnomAD-4.0.0 | 6.5786E-06 | None | None | None | None | N | None | 2.41523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | 22121 |
Fn3-48 |
67 | rs1369743485 |
0.2309 | -0.145 | 0.001 | N | 0.158 | 0.211 | 0.221734844693 | 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 |
| Q/R | 22121 |
Fn3-48 |
67 | rs1369743485 |
0.1379 | None | 0.662 | N | 0.227 | 0.128 | 0.183819452728 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| Q/R | 22121 |
Fn3-48 |
67 | rs1369743485 |
0.1379 | None | 0.662 | N | 0.227 | 0.128 | 0.183819452728 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| M/I | 22223 |
Fn3-49 |
68 | rs1049450842 |
0.182 | -0.087 | None | N | 0.113 | 0.114 | 0.16115917748 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/I | 22223 |
Fn3-49 |
68 | rs1049450842 |
0.182 | -0.087 | None | N | 0.113 | 0.114 | 0.16115917748 | gnomAD-4.0.0 | 4.10796E-06 | None | None | None | None | N | None | 0 | 6.71501E-05 | None | 0 | 0 | None | 0 | 0 | 2.69967E-06 | 0 | 0 |
| M/K | 22223 |
Fn3-49 |
68 | rs752794705 |
0.1357 | 0.484 | 0.055 | N | 0.299 | 0.201 | 0.336892272479 | 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 |
| M/K | 22223 |
Fn3-49 |
68 | rs752794705 |
0.1357 | 0.484 | 0.055 | N | 0.299 | 0.201 | 0.336892272479 | gnomAD-4.0.0 | 3.42324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49942E-06 | 0 | 0 |
| M/L | 22223 |
Fn3-49 |
68 | None | 0.0982 | None | None | N | 0.099 | 0.07 | 0.246773566709 | gnomAD-4.0.0 | 3.60102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93757E-06 | 0 | 0 |
| M/T | 22223 |
Fn3-49 |
68 | rs752794705 |
0.1203 | 0.001 | None | N | 0.106 | 0.155 | 0.497214377195 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| M/T | 22223 |
Fn3-49 |
68 | rs752794705 |
0.1203 | 0.001 | None | N | 0.106 | 0.155 | 0.497214377195 | 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 |
| M/T | 22223 |
Fn3-49 |
68 | rs752794705 |
0.1203 | 0.001 | None | N | 0.106 | 0.155 | 0.497214377195 | gnomAD-4.0.0 | 6.20091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48015E-06 | 0 | 0 |
| E/D | 22419 |
Fn3-50 |
66 | None | 0.2463 | None | 0.722 | N | 0.455 | 0.124 | 0.132336055621 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| E/Q | 22419 |
Fn3-50 |
66 | rs1460379508 |
0.208 | -0.314 | 0.949 | N | 0.526 | 0.248 | 0.231231049324 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/Q | 22419 |
Fn3-50 |
66 | rs1460379508 |
0.208 | -0.314 | 0.949 | N | 0.526 | 0.248 | 0.231231049324 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-05 |
| T/I | 22514 |
Fn3-51 |
64 | rs544847834 |
0.0775 | -0.294 | None | N | 0.158 | 0.055 | 0.0551355673512 | 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 |
| T/I | 22514 |
Fn3-51 |
64 | rs544847834 |
0.0775 | -0.294 | None | N | 0.158 | 0.055 | 0.0551355673512 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.88048E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | 22514 |
Fn3-51 |
64 | rs544847834 |
0.0775 | -0.294 | None | N | 0.158 | 0.055 | 0.0551355673512 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| T/I | 22514 |
Fn3-51 |
64 | rs544847834 |
0.0775 | -0.294 | None | N | 0.158 | 0.055 | 0.0551355673512 | gnomAD-4.0.0 | 4.33885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11657E-04 | None | 0 | 0 | 0 | 0 | 3.20225E-05 |
| T/S | 22514 |
Fn3-51 |
64 | rs561270636 |
0.1006 | -1.001 | None | N | 0.133 | 0.057 | 0.0482279557977 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/S | 22514 |
Fn3-51 |
64 | rs561270636 |
0.1006 | -1.001 | None | N | 0.133 | 0.057 | 0.0482279557977 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/S | 22514 |
Fn3-51 |
64 | rs561270636 |
0.1006 | -1.001 | None | N | 0.133 | 0.057 | 0.0482279557977 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| T/S | 22514 |
Fn3-51 |
64 | rs561270636 |
0.1006 | -1.001 | None | N | 0.133 | 0.057 | 0.0482279557977 | gnomAD-4.0.0 | 3.09914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49004E-05 | 0 |
| H/Q | 22709 |
Fn3-52 |
67 | None | 0.1643 | None | 0.045 | N | 0.183 | 0.145 | 0.117506650769 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77685E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 22809 |
Fn3-53 |
67 | None | 0.1276 | None | 0.904 | N | 0.421 | 0.156 | 0.176091768786 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| I/T | 23105 |
Fn3-55 |
66 | rs1430095779 |
0.9771 | -1.181 | 0.967 | N | 0.532 | 0.378 | 0.629443713816 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| S/C | 23500 |
Fn3-58 |
66 | rs774745687 |
0.1026 | None | 0.78 | N | 0.351 | 0.208 | 0.341696514166 | gnomAD-4.0.0 | 3.1837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7186E-06 | 0 | 0 |
| S/T | 23500 |
Fn3-58 |
66 | None | 0.0611 | None | None | N | 0.065 | 0.068 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| T/A | 23596 |
Fn3-59 |
65 | rs574577289 |
0.0771 | -1.039 | 0.081 | N | 0.273 | 0.089 | 0.15556083564 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | 23596 |
Fn3-59 |
65 | rs574577289 |
0.0771 | -1.039 | 0.081 | N | 0.273 | 0.089 | 0.15556083564 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 23596 |
Fn3-59 |
65 | rs574577289 |
0.0771 | -1.039 | 0.081 | N | 0.273 | 0.089 | 0.15556083564 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | 23596 |
Fn3-59 |
65 | rs574577289 |
0.0771 | -1.039 | 0.081 | N | 0.273 | 0.089 | 0.15556083564 | gnomAD-4.0.0 | 6.56728E-06 | None | None | None | None | N | None | 2.40512E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | 23990 |
Fn3-62 |
67 | rs540800852 |
0.2395 | -0.487 | 0.934 | N | 0.391 | 0.205 | 0.446410834509 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/R | 23990 |
Fn3-62 |
67 | rs540800852 |
0.2395 | -0.487 | 0.934 | N | 0.391 | 0.205 | 0.446410834509 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02462E-05 |
| L/F | 24188 |
Fn3-63 |
67 | None | 0.6498 | None | 0.998 | N | 0.688 | 0.253 | 0.354822389136 | gnomAD-4.0.0 | 2.97461E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.78089E-06 | 0 | 0 |
| T/A | 24288 |
Fn3-64 |
67 | None | 0.0969 | None | 0.958 | N | 0.36 | 0.175 | 0.191931220699 | gnomAD-4.0.0 | 1.61366E-06 | None | None | None | None | N | None | 5.73526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | 24288 |
Fn3-64 |
67 | rs878997916 |
0.2484 | None | 0.994 | N | 0.668 | 0.406 | 0.482061804652 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | 24288 |
Fn3-64 |
67 | rs878997916 |
0.2484 | None | 0.994 | N | 0.668 | 0.406 | 0.482061804652 | gnomAD-4.0.0 | 1.86923E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.431E-05 | 0 | None | 0 | 0 | 1.7021E-06 | 0 | 0 |
| T/A | 24390 |
Fn3-65 |
68 | rs182491843 |
0.0695 | -1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-2.1.1 | 6.23866E-04 | None | None | None | None | N | None | 6.53649E-03 | 3.97276E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.86E-06 | 1.41084E-04 |
| T/A | 24390 |
Fn3-65 |
68 | rs182491843 |
0.0695 | -1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-3.1.2 | 1.86709E-03 | None | None | None | None | N | None | 6.48975E-03 | 7.20272E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.91205E-03 |
| T/A | 24390 |
Fn3-65 |
68 | rs182491843 |
0.0695 | -1.169 | 0.005 | N | 0.21 | 0.033 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | 24390 |
Fn3-65 |
68 | rs182491843 |
0.0695 | -1.169 | 0.005 | N | 0.21 | 0.033 | None | gnomAD-4.0.0 | 3.60152E-04 | None | None | None | None | N | None | 6.85151E-03 | 5.16908E-04 | None | 0 | 0 | None | 0 | 3.3036E-04 | 8.47801E-07 | 2.1965E-05 | 4.96508E-04 |
| T/K | 24390 |
Fn3-65 |
68 | rs1060500583 |
0.0587 | None | None | N | 0.091 | 0.101 | 0.0401082797425 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| I/F | 24680 |
Fn3-67 |
65 | rs1381899333 |
0.1769 | None | 0.981 | N | 0.341 | 0.223 | 0.611199080189 | 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 |
| I/F | 24680 |
Fn3-67 |
65 | rs1381899333 |
0.1769 | None | 0.981 | N | 0.341 | 0.223 | 0.611199080189 | gnomAD-4.0.0 | 3.0451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61493E-06 | 0 | 0 |
| E/A | 24974 |
Fn3-69 |
67 | rs933954403 |
0.233 | None | 0.22 | D | 0.507 | 0.18 | None | gnomAD-4.0.0 | 3.18354E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-06 | 0 | 3.02517E-05 |
| E/K | 24974 |
Fn3-69 |
67 | rs372061666 |
0.285 | 0.333 | 0.22 | N | 0.513 | 0.127 | None | 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 |
| E/K | 24974 |
Fn3-69 |
67 | rs372061666 |
0.285 | 0.333 | 0.22 | N | 0.513 | 0.127 | 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 |
| E/K | 24974 |
Fn3-69 |
67 | rs372061666 |
0.285 | 0.333 | 0.22 | N | 0.513 | 0.127 | None | gnomAD-4.0.0 | 2.56302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78776E-06 | 0 | 0 |
| V/A | 25072 |
Fn3-70 |
67 | rs1707961422 |
0.1336 | None | None | N | 0.082 | 0.126 | 0.238096912614 | gnomAD-4.0.0 | 2.73714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 2.31868E-05 | 0 |
| I/L | 25370 |
Fn3-72 |
67 | rs751411453 |
0.0527 | -0.609 | None | N | 0.097 | 0.094 | 0.0716867268079 | 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 |
| I/L | 25370 |
Fn3-72 |
67 | rs751411453 |
0.0527 | -0.609 | None | N | 0.097 | 0.094 | 0.0716867268079 | gnomAD-4.0.0 | 1.59254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| I/T | 25370 |
Fn3-72 |
67 | rs764131874 |
0.0758 | -0.995 | 0.117 | N | 0.355 | 0.14 | 0.504113619024 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | 25370 |
Fn3-72 |
67 | rs764131874 |
0.0758 | -0.995 | 0.117 | N | 0.355 | 0.14 | 0.504113619024 | gnomAD-4.0.0 | 6.84439E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52461E-05 | None | 0 | 0 | 7.19721E-06 | 0 | 1.65695E-05 |
| T/I | 25762 |
Fn3-75 |
65 | None | 0.1193 | None | 0.669 | N | 0.341 | 0.237 | 0.286848849266 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/N | 25762 |
Fn3-75 |
65 | None | 0.1169 | None | 0.966 | N | 0.356 | 0.24 | 0.284150004643 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| T/P | 25762 |
Fn3-75 |
65 | rs1387446421 |
0.1734 | -0.835 | 0.966 | N | 0.391 | 0.339 | 0.326345978581 | 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 |
| T/P | 25762 |
Fn3-75 |
65 | rs1387446421 |
0.1734 | -0.835 | 0.966 | N | 0.391 | 0.339 | 0.326345978581 | gnomAD-4.0.0 | 6.84492E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52245E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 25762 |
Fn3-75 |
65 | None | 0.1042 | None | 0.454 | N | 0.339 | 0.083 | 0.117506650769 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69884E-06 | 0 | 0 |
| T/I | 26154 |
Fn3-78 |
67 | rs745461908 |
0.1443 | -0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 8.52E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | 26154 |
Fn3-78 |
67 | rs745461908 |
0.1443 | -0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | 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 |
| T/I | 26154 |
Fn3-78 |
67 | rs745461908 |
0.1443 | -0.261 | 0.014 | N | 0.213 | 0.122 | 0.239901079897 | gnomAD-4.0.0 | 2.4809E-06 | None | None | None | None | N | None | 0 | 5.00768E-05 | None | 0 | 0 | None | 0 | 0 | 8.48186E-07 | 0 | 0 |
| T/P | 26154 |
Fn3-78 |
67 | rs1286984854 |
0.4149 | -0.737 | 0.99 | N | 0.496 | 0.389 | 0.372268306217 | 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 |
| T/P | 26154 |
Fn3-78 |
67 | rs1286984854 |
0.4149 | -0.737 | 0.99 | N | 0.496 | 0.389 | 0.372268306217 | gnomAD-4.0.0 | 1.59459E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86467E-06 | 0 | 0 |
| L/F | 26352 |
Fn3-79 |
67 | None | 0.8568 | None | 0.988 | N | 0.661 | 0.203 | 0.532890898078 | 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 |
| L/S | 26352 |
Fn3-79 |
67 | rs753271373 |
0.9792 | -1.115 | 0.994 | N | 0.689 | 0.549 | 0.750802705713 | 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 |
| L/S | 26352 |
Fn3-79 |
67 | rs753271373 |
0.9792 | -1.115 | 0.994 | N | 0.689 | 0.549 | 0.750802705713 | gnomAD-4.0.0 | 3.18344E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7187E-06 | 0 | 0 |
| T/K | 26452 |
Fn3-80 |
67 | rs375061238 |
0.4455 | None | 0.999 | N | 0.592 | 0.503 | None | 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 |
| T/K | 26452 |
Fn3-80 |
67 | rs375061238 |
0.4455 | None | 0.999 | N | 0.592 | 0.503 | None | gnomAD-4.0.0 | 6.57618E-06 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 26748 |
Fn3-82 |
66 | None | 0.0671 | None | None | N | 0.126 | 0.099 | 0.181679512989 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| T/R | 26748 |
Fn3-82 |
66 | None | 0.225 | None | 0.188 | N | 0.328 | 0.163 | 0.247322355667 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| K/Q | 27038 |
Fn3-84 |
67 | rs1705165045 |
0.1484 | None | 0.036 | N | 0.273 | 0.151 | 0.136095386433 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69879E-06 | 0 | 0 |
| K/R | 27038 |
Fn3-84 |
67 | None | 0.0963 | None | 0.004 | N | 0.27 | 0.132 | 0.17948927462 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | 27138 |
Fn3-85 |
67 | None | 0.2083 | None | 0.901 | N | 0.479 | 0.221 | 0.224531998449 | gnomAD-4.0.0 | 2.05333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69883E-06 | 0 | 0 |
| D/Y | 27138 |
Fn3-85 |
67 | rs1336363874 |
0.1802 | None | 0.018 | N | 0.354 | 0.278 | 0.435590266561 | gnomAD-4.0.0 | 6.84443E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
| V/L | 27236 |
Fn3-86 |
67 | rs763018145 |
0.2063 | -0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.31105E-04 | None | 0 | 0 | 0 |
| V/L | 27236 |
Fn3-86 |
67 | rs763018145 |
0.2063 | -0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06954E-04 | 0 |
| V/L | 27236 |
Fn3-86 |
67 | rs763018145 |
0.2063 | -0.522 | 0.309 | N | 0.301 | 0.163 | 0.279370189704 | gnomAD-4.0.0 | 9.30021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47877E-07 | 1.53745E-04 | 0 |
| L/I | 27435 |
Fn3-87 |
67 | rs1060500432 |
0.2182 | None | 0.979 | N | 0.459 | 0.253 | 0.379193981924 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/A | 27535 |
Fn3-88 |
67 | rs775733174 |
0.0861 | -0.978 | 0.822 | N | 0.437 | 0.185 | 0.239901079897 | 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 |
| T/A | 27535 |
Fn3-88 |
67 | rs775733174 |
0.0861 | -0.978 | 0.822 | N | 0.437 | 0.185 | 0.239901079897 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 1.15934E-05 | 0 |
| T/I | 27535 |
Fn3-88 |
67 | None | 0.118 | None | 0.89 | N | 0.509 | 0.258 | 0.325533332567 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| K/N | 27637 |
Fn3-89 |
68 | rs755617634 |
0.361 | -0.173 | 0.935 | N | 0.437 | 0.258 | 0.158396225186 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.07692E-04 | None | 0 | None | 0 | 0 | 0 |
| K/N | 27637 |
Fn3-89 |
68 | rs755617634 |
0.361 | -0.173 | 0.935 | N | 0.437 | 0.258 | 0.158396225186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | 27637 |
Fn3-89 |
68 | rs755617634 |
0.361 | -0.173 | 0.935 | N | 0.437 | 0.258 | 0.158396225186 | gnomAD-4.0.0 | 5.12483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.70026E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | 27637 |
Fn3-89 |
68 | None | 0.1251 | None | 0.967 | N | 0.449 | 0.517 | 0.347659731818 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 2.625E-06 | 0 | 0 |
| Q/P | 27831 |
Fn3-90 |
66 | rs758772714 |
0.1791 | -0.299 | 0.895 | N | 0.52 | 0.315 | 0.314716216878 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.14E-06 | 0 |
| Q/P | 27831 |
Fn3-90 |
66 | rs758772714 |
0.1791 | -0.299 | 0.895 | N | 0.52 | 0.315 | 0.314716216878 | gnomAD-4.0.0 | 3.4467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60911E-06 | 0 | 1.66973E-05 |
| Q/R | 27831 |
Fn3-90 |
66 | rs758772714 |
0.1576 | 0.07 | 0.41 | N | 0.469 | 0.163 | 0.185906805712 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.14E-06 | 0 |
| Q/R | 27831 |
Fn3-90 |
66 | rs758772714 |
0.1576 | 0.07 | 0.41 | N | 0.469 | 0.163 | 0.185906805712 | gnomAD-4.0.0 | 3.4467E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.51139E-06 | 0 | 0 |
| T/P | 27927 |
Fn3-91 |
65 | rs1164046049 |
0.1869 | None | 0.896 | N | 0.389 | 0.241 | 0.259761712551 | 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 |
| T/P | 27927 |
Fn3-91 |
65 | rs1164046049 |
0.1869 | None | 0.896 | N | 0.389 | 0.241 | 0.259761712551 | gnomAD-4.0.0 | 3.10396E-06 | None | None | None | None | N | None | 6.68861E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 27927 |
Fn3-91 |
65 | rs1271253201 |
0.1043 | -0.552 | 0.007 | N | 0.116 | 0.068 | 0.134241683229 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.36E-05 | None | 0 | 0 | 0 |
| T/S | 27927 |
Fn3-91 |
65 | rs1271253201 |
0.1043 | -0.552 | 0.007 | N | 0.116 | 0.068 | 0.134241683229 | gnomAD-4.0.0 | 4.79454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86658E-06 | 2.89051E-05 | 0 |
| T/I | 28120 |
Fn3-92 |
66 | None | 0.104 | None | None | N | 0.109 | 0.112 | 0.0762999501168 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79902E-06 | 0 | 0 |
| T/K | 28120 |
Fn3-92 |
66 | rs1261670625 |
0.1615 | -0.448 | 0.055 | N | 0.421 | 0.111 | 0.0762999501168 | 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 |
| T/K | 28120 |
Fn3-92 |
66 | rs1261670625 |
0.1615 | -0.448 | 0.055 | N | 0.421 | 0.111 | 0.0762999501168 | gnomAD-4.0.0 | 2.60035E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.41813E-05 | 0 | 0 |
| D/G | 28220 |
Fn3-93 |
67 | None | 0.2218 | None | 0.815 | N | 0.398 | 0.285 | 0.302793454619 | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 0 | 0 |
| D/H | 28220 |
Fn3-93 |
67 | rs538385596 |
0.2535 | 0.184 | 0.939 | N | 0.467 | 0.318 | 0.316198179892 | 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 |
| D/H | 28220 |
Fn3-93 |
67 | rs538385596 |
0.2535 | 0.184 | 0.939 | N | 0.467 | 0.318 | 0.316198179892 | 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 |
| D/H | 28220 |
Fn3-93 |
67 | rs538385596 |
0.2535 | 0.184 | 0.939 | N | 0.467 | 0.318 | 0.316198179892 | gnomAD-4.0.0 | 1.85912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54285E-06 | 0 | 0 |
| D/N | 28220 |
Fn3-93 |
67 | rs538385596 |
0.1289 | -0.203 | 0.684 | N | 0.426 | 0.194 | 0.268660756437 | 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 |
| D/N | 28220 |
Fn3-93 |
67 | rs538385596 |
0.1289 | -0.203 | 0.684 | N | 0.426 | 0.194 | 0.268660756437 | 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 |
| D/N | 28220 |
Fn3-93 |
67 | rs538385596 |
0.1289 | -0.203 | 0.684 | N | 0.426 | 0.194 | 0.268660756437 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/N | 28220 |
Fn3-93 |
67 | rs538385596 |
0.1289 | -0.203 | 0.684 | N | 0.426 | 0.194 | 0.268660756437 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| L/F | 28516 |
Fn3-95 |
67 | rs13026702 |
0.3416 | None | 0.998 | N | 0.708 | 0.378 | 0.489036454283 | 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 |
| L/F | 28516 |
Fn3-95 |
67 | rs13026702 |
0.3416 | None | 0.998 | N | 0.708 | 0.378 | 0.489036454283 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| R/L | 28616 |
Fn3-96 |
67 | rs373942982 |
0.4023 | None | 0.913 | N | 0.515 | 0.342 | 0.517104213562 | 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 |
| R/L | 28616 |
Fn3-96 |
67 | rs373942982 |
0.4023 | None | 0.913 | N | 0.515 | 0.342 | 0.517104213562 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | 28616 |
Fn3-96 |
67 | rs373942982 |
0.1649 | 0.038 | 0.997 | N | 0.564 | 0.315 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.68E-05 | 0 |
| R/Q | 28616 |
Fn3-96 |
67 | rs373942982 |
0.1649 | 0.038 | 0.997 | N | 0.564 | 0.315 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/Q | 28616 |
Fn3-96 |
67 | rs373942982 |
0.1649 | 0.038 | 0.997 | N | 0.564 | 0.315 | None | gnomAD-4.0.0 | 2.23096E-05 | None | None | None | None | N | None | 4.00502E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37334E-05 | 1.09789E-05 | 6.40451E-05 |
| R/W | 28616 |
Fn3-96 |
67 | rs754025981 |
0.2311 | -0.541 | 0.999 | N | 0.619 | 0.471 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 5.13E-05 | None | 3.27E-05 | None | 0 | 1.56E-05 | 0 |
| R/W | 28616 |
Fn3-96 |
67 | rs754025981 |
0.2311 | -0.541 | 0.999 | N | 0.619 | 0.471 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07555E-04 | 0 |
| R/W | 28616 |
Fn3-96 |
67 | rs754025981 |
0.2311 | -0.541 | 0.999 | N | 0.619 | 0.471 | None | gnomAD-4.0.0 | 3.53241E-05 | None | None | None | None | N | None | 4.00555E-05 | 3.33511E-05 | None | 0 | 6.68807E-05 | None | 0 | 0 | 3.81426E-05 | 2.19597E-05 | 3.20236E-05 |
| T/I | 28716 |
Fn3-97 |
66 | rs949189486 |
0.0936 | None | 0.805 | N | 0.464 | 0.2 | 0.354396617058 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | 28716 |
Fn3-97 |
66 | rs949189486 |
0.0936 | None | 0.805 | N | 0.464 | 0.2 | 0.354396617058 | gnomAD-4.0.0 | 4.33768E-06 | None | None | None | None | N | None | 1.33276E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08555E-06 | 0 | 0 |
| T/K | 28716 |
Fn3-97 |
66 | None | 0.1523 | None | 0.805 | N | 0.477 | 0.235 | 0.335414705075 | gnomAD-4.0.0 | 2.05269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69836E-06 | 0 | 0 |
| R/T | 29006 |
Fn3-99 |
65 | rs1355128934 |
0.1514 | -0.331 | 0.822 | N | 0.589 | 0.274 | 0.293502639404 | 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 |
| R/T | 29006 |
Fn3-99 |
65 | rs1355128934 |
0.1514 | -0.331 | 0.822 | N | 0.589 | 0.274 | 0.293502639404 | gnomAD-4.0.0 | 6.36529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29849E-05 | 3.02444E-05 |
| S/G | 29303 |
Fn3-101 |
67 | rs72648231 |
0.1133 | -0.938 | 0.948 | N | 0.391 | 0.189 | 0.259761712551 | 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/G | 29303 |
Fn3-101 |
67 | rs72648231 |
0.1133 | -0.938 | 0.948 | N | 0.391 | 0.189 | 0.259761712551 |
Begay (2015)
| None |
DCM
|
het; co-inherited with LMNA mutant c.936G>A | None | None | N | WGS prioritisation; filtering with ANNOVAR; co-segregates within 2-generation family (n = 2, 2 affected (total 2)); LMNA variant also observed | None | None | None | None | None | None | None | None | None | None | None |
| S/G | 29303 |
Fn3-101 |
67 | rs72648231 |
0.1133 | -0.938 | 0.948 | N | 0.391 | 0.189 | 0.259761712551 | gnomAD-4.0.0 | 7.68472E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4355E-05 | 0 | 0 |
| S/I | 29303 |
Fn3-101 |
67 | rs1190785295 |
0.2 | -0.142 | 0.999 | N | 0.678 | 0.341 | 0.589843679045 | 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 |
| S/I | 29303 |
Fn3-101 |
67 | rs1190785295 |
0.2 | -0.142 | 0.999 | N | 0.678 | 0.341 | 0.589843679045 | 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 | 29303 |
Fn3-101 |
67 | rs1190785295 |
0.2 | -0.142 | 0.999 | N | 0.678 | 0.341 | 0.589843679045 | gnomAD-4.0.0 | 6.40425E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19625E-05 | 0 | 0 |
| T/I | 29401 |
Fn3-102 |
67 | None | 0.1524 | None | 0.004 | N | 0.281 | 0.109 | 0.252162846088 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 0 | 0 |
| T/N | 29401 |
Fn3-102 |
67 | None | 0.123 | None | 0.015 | N | 0.234 | 0.099 | 0.224531998449 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 0 | 0 |
| I/M | 29599 |
Fn3-103 |
67 | rs771722266 |
0.3609 | -0.582 | 1.0 | N | 0.609 | 0.256 | 0.386395597597 | 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 |
| I/M | 29599 |
Fn3-103 |
67 | rs771722266 |
0.3609 | -0.582 | 1.0 | N | 0.609 | 0.256 | 0.386395597597 | gnomAD-4.0.0 | 9.5787E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2592E-05 | 0 | 0 |
| I/T | 29599 |
Fn3-103 |
67 | None | 0.9387 | None | 1.0 | N | 0.57 | 0.38 | 0.641834116846 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79886E-06 | 1.15934E-05 | 0 |
| T/A | 29699 |
Fn3-104 |
67 | None | 0.0727 | None | 0.201 | N | 0.351 | 0.103 | 0.12205267543 | gnomAD-4.0.0 | 6.84309E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 0 | 0 |
| S/L | 29998 |
Fn3-106 |
66 | rs376543931 |
0.0809 | -0.222 | 0.999 | N | 0.535 | 0.317 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.26E-05 | 0 |
| S/L | 29998 |
Fn3-106 |
66 | rs376543931 |
0.0809 | -0.222 | 0.999 | N | 0.535 | 0.317 | 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 |
| S/L | 29998 |
Fn3-106 |
66 | rs376543931 |
0.0809 | -0.222 | 0.999 | N | 0.535 | 0.317 | None | gnomAD-4.0.0 | 1.73531E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28853E-05 | 0 | 1.60097E-05 |
| K/T | 30094 |
Fn3-107 |
65 | None | 0.2104 | None | 0.967 | N | 0.582 | 0.315 | 0.394079506076 | 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/G | 30290 |
Fn3-108 |
67 | None | 0.3006 | None | 0.967 | N | 0.602 | 0.5 | 0.827830861967 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85977E-06 | 0 | 0 |
| V/E | 30390 |
Fn3-109 |
67 | rs779492740 |
0.3218 | -0.247 | 0.106 | N | 0.387 | 0.28 | 0.572487460518 | 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/E | 30390 |
Fn3-109 |
67 | rs779492740 |
0.3218 | -0.247 | 0.106 | N | 0.387 | 0.28 | 0.572487460518 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 30390 |
Fn3-109 |
67 | None | 0.061 | None | None | N | 0.077 | 0.053 | 0.154104182512 | 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 |
| S/G | 30487 |
Fn3-110 |
66 | rs1487384647 |
0.1161 | -1.266 | 0.071 | D | 0.136 | 0.123 | 0.184867976434 | 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 |
| S/G | 30487 |
Fn3-110 |
66 | rs1487384647 |
0.1161 | -1.266 | 0.071 | D | 0.136 | 0.123 | 0.184867976434 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88388E-05 | 0 | 0 | 0 | 0 |
| T/R | 30786 |
Fn3-112 |
68 | None | 0.1976 | None | 0.667 | N | 0.576 | 0.122 | 0.21737058555 | 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 |
| A/P | 31081 |
Fn3-114 |
66 | rs754037471 |
0.1975 | -0.583 | 0.106 | N | 0.442 | 0.102 | 0.162503812791 | 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 |
| A/P | 31081 |
Fn3-114 |
66 | rs754037471 |
0.1975 | -0.583 | 0.106 | N | 0.442 | 0.102 | 0.162503812791 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| A/T | 31081 |
Fn3-114 |
66 | None | 0.0659 | None | None | N | 0.082 | 0.106 | 0.0611884634855 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| A/V | 31081 |
Fn3-114 |
66 | rs1032232850 |
0.0759 | -0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | N | None | 0 | 3.18711E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.31675E-04 |
| A/V | 31081 |
Fn3-114 |
66 | rs1032232850 |
0.0759 | -0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62089E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 31081 |
Fn3-114 |
66 | rs1032232850 |
0.0759 | -0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-4.0.0 | 2.69029E-05 | None | None | None | None | N | None | 0 | 3.22034E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.68764E-05 |
| V/F | 31177 |
Fn3-115 |
65 | None | 0.1485 | None | 0.81 | N | 0.38 | 0.123 | 0.301789629655 | gnomAD-4.0.0 | 6.84177E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| V/I | 31177 |
Fn3-115 |
65 | rs769528066 |
0.0726 | -0.364 | 0.004 | N | 0.132 | 0.117 | 0.0986583533028 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | 31474 |
Fn3-117 |
67 | rs1401860835 |
0.2397 | -1.051 | 0.429 | N | 0.387 | 0.239 | 0.540016403455 | 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 | 31474 |
Fn3-117 |
67 | rs1401860835 |
0.2397 | -1.051 | 0.429 | N | 0.387 | 0.239 | 0.540016403455 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 31474 |
Fn3-117 |
67 | rs1410759884 |
0.0871 | -0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | 31474 |
Fn3-117 |
67 | rs1410759884 |
0.0871 | -0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | 31474 |
Fn3-117 |
67 | rs1410759884 |
0.0871 | -0.283 | 0.002 | N | 0.155 | 0.094 | 0.336155897331 | gnomAD-4.0.0 | 3.84307E-06 | None | None | None | None | N | None | 5.0734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/R | 31874 |
Fn3-120 |
68 | rs1405952396 |
0.1648 | 0.704 | 0.784 | N | 0.437 | 0.35 | 0.526437037968 | 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 |
| M/T | 31874 |
Fn3-120 |
68 | None | 0.1218 | None | 0.784 | N | 0.376 | 0.303 | 0.659202117215 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85968E-06 | 0 | 0 |
| V/A | 32170 |
Fn3-122 |
66 | rs1157303589 |
0.0949 | -1.104 | 0.005 | N | 0.167 | 0.075 | 0.385084120042 | 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 | 32170 |
Fn3-122 |
66 | rs1157303589 |
0.0949 | -1.104 | 0.005 | N | 0.167 | 0.075 | 0.385084120042 | 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/A | 32170 |
Fn3-122 |
66 | rs1157303589 |
0.0949 | -1.104 | 0.005 | N | 0.167 | 0.075 | 0.385084120042 | gnomAD-4.0.0 | 6.40539E-06 | None | None | None | None | N | None | 3.38226E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17879E-06 | 0 | 0 |
| V/I | 32170 |
Fn3-122 |
66 | None | 0.0738 | None | None | N | 0.076 | 0.079 | 0.243972157842 | gnomAD-4.0.0 | 6.8425E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-07 | 0 | 0 |
| V/L | 32170 |
Fn3-122 |
66 | rs1380085253 |
0.1029 | -0.392 | None | N | 0.076 | 0.055 | 0.21737058555 | 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 | 32170 |
Fn3-122 |
66 | rs1380085253 |
0.1029 | -0.392 | None | N | 0.076 | 0.055 | 0.21737058555 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79898E-06 | 0 | 0 |
| N/H | 32268 |
Fn3-123 |
67 | None | 0.0911 | None | 0.996 | N | 0.371 | 0.343 | 0.283371740733 | gnomAD-4.0.0 | 2.40067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62503E-06 | 0 | 0 |
| N/S | 32268 |
Fn3-123 |
67 | rs769680688 |
0.0833 | -0.447 | 0.704 | N | 0.322 | 0.119 | 0.166414681773 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.44E-05 | 0 |
| N/S | 32268 |
Fn3-123 |
67 | rs769680688 |
0.0833 | -0.447 | 0.704 | N | 0.322 | 0.119 | 0.166414681773 | gnomAD-4.0.0 | 2.53185E-05 | None | None | None | None | N | None | 2.98864E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14855E-05 | 0 | 1.65689E-05 |
| T/A | 32465 |
Fn3-124 |
67 | rs753202914 |
0.0869 | -0.837 | 0.012 | N | 0.246 | 0.122 | 0.137902524267 | 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 |
| T/A | 32465 |
Fn3-124 |
67 | rs753202914 |
0.0869 | -0.837 | 0.012 | N | 0.246 | 0.122 | 0.137902524267 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | 32465 |
Fn3-124 |
67 | None | 0.0885 | None | None | N | 0.167 | 0.118 | 0.104622674875 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/S | 32465 |
Fn3-124 |
67 | None | 0.117 | None | 0.002 | N | 0.123 | 0.096 | 0.0482279557977 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/A | 32565 |
Fn3-125 |
67 | rs1232892938 |
0.0923 | -1.11 | 0.002 | N | 0.19 | 0.098 | 0.162503812791 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.37E-05 | None | 0 | 0 | 0 |
| T/A | 32565 |
Fn3-125 |
67 | rs1232892938 |
0.0923 | -1.11 | 0.002 | N | 0.19 | 0.098 | 0.162503812791 | gnomAD-4.0.0 | 6.39939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.80333E-05 | 0 |
| P/L | 32666 |
Fn3-126 |
67 | rs1031941089 |
0.3023 | -0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.45995E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | 32666 |
Fn3-126 |
67 | rs1031941089 |
0.3023 | -0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | 32666 |
Fn3-126 |
67 | rs1031941089 |
0.3023 | -0.649 | 1.0 | N | 0.742 | 0.415 | 0.624694708293 | gnomAD-4.0.0 | 2.56208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.84801E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | 32666 |
Fn3-126 |
67 | rs1031941089 |
0.579 | None | 1.0 | N | 0.749 | 0.426 | 0.426202426774 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | 32666 |
Fn3-126 |
67 | None | 0.3432 | None | 1.0 | N | 0.732 | 0.353 | 0.389750110748 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| V/A | 32963 |
Fn3-128 |
68 | rs762929989 |
0.5115 | -0.966 | 0.948 | N | 0.358 | 0.241 | 0.605642446472 | 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/A | 32963 |
Fn3-128 |
68 | rs762929989 |
0.5115 | -0.966 | 0.948 | N | 0.358 | 0.241 | 0.605642446472 | gnomAD-4.0.0 | 1.32035E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44375E-05 | 0 | 0 |
| V/I | 32963 |
Fn3-128 |
68 | rs745608832 |
0.0989 | None | 0.198 | N | 0.163 | 0.187 | 0.352910780287 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99505E-07 | 0 | 1.65678E-05 |
| T/I | 33357 |
Fn3-130 |
68 | None | 0.1507 | None | 0.026 | N | 0.229 | 0.148 | 0.220303561663 | gnomAD-4.0.0 | 6.84498E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16074E-05 | 0 |
| T/K | 33357 |
Fn3-130 |
68 | None | 0.1967 | None | 0.968 | N | 0.521 | 0.203 | 0.284539287134 | gnomAD-4.0.0 | 6.16048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09705E-06 | 0 | 0 |
| I/T | 33458 |
Fn3-131 |
67 | rs72648283 |
0.1389 | -1.445 | 0.37 | N | 0.241 | 0.224 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| I/T | 33458 |
Fn3-131 |
67 | rs72648283 |
0.1389 | -1.445 | 0.37 | N | 0.241 | 0.224 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| I/T | 33458 |
Fn3-131 |
67 | rs72648283 |
0.1389 | -1.445 | 0.37 | N | 0.241 | 0.224 | None | gnomAD-4.0.0 | 8.67593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32361E-06 | 3.29395E-05 | 0 |
| I/V | 33458 |
Fn3-131 |
67 | rs2154137413 |
0.098 | None | 0.887 | N | 0.297 | 0.134 | 0.414798848334 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 0 | 0 |
| F/C | 33753 |
Fn3-132 |
65 | None | 0.852 | None | 1.0 | N | 0.671 | 0.542 | 0.680116873462 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 8.99428E-07 | 0 | 0 |
| F/S | 33753 |
Fn3-132 |
65 | rs764462637 |
0.8395 | -0.975 | 1.0 | N | 0.657 | 0.53 | 0.60538619643 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.32E-05 | 0 |
| F/S | 33753 |
Fn3-132 |
65 | rs764462637 |
0.8395 | -0.975 | 1.0 | N | 0.657 | 0.53 | 0.60538619643 | gnomAD-4.0.0 | 9.57847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07931E-05 | 0 | 3.31268E-05 |
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.