Structural position:
- Domain Type: Fn3
- Aligned Position: 24
- Secondary Structure Element: e
- Secondary Structure Region: β-strand B
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | 15678 |
Fn3-1 |
22 | None | 0.9894 | None | 0.025 | D | 0.688 | 0.685 | 0.82672435 | gnomAD-4.0.0 | 1.59404E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86257E-06 | 0 | 0 |
| W/C | 15779 |
Fn3-2 |
22 | None | 0.9982 | None | 1.0 | D | 0.821 | 0.825 | 0.8230967 | gnomAD-4.0.0 | 1.36939E-06 | None | None | None | None | N | None | 2.99383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65848E-05 |
| W/L | 15779 |
Fn3-2 |
22 | None | 0.9727 | None | 1.0 | D | 0.832 | 0.807 | 0.86350626 | 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 |
| W/R | 15779 |
Fn3-2 |
22 | rs1350573127 |
0.9993 | -2.147 | 1.0 | D | 0.899 | 0.918 | 0.8690053 | 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 |
| W/R | 15779 |
Fn3-2 |
22 | rs1350573127 |
0.9993 | -2.147 | 1.0 | D | 0.899 | 0.918 | 0.8690053 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 15779 |
Fn3-2 |
22 | rs1350573127 |
0.9993 | -2.147 | 1.0 | D | 0.899 | 0.918 | 0.8690053 | gnomAD-4.0.0 | 6.84686E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99905E-07 | 0 | 0 |
| W/R | 16176 |
Fn3-5 |
22 | rs752645675 |
0.9998 | -2.164 | 1.0 | D | 0.909 | 0.912 | 0.9041662 | 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 |
| W/R | 16176 |
Fn3-5 |
22 | rs752645675 |
0.9998 | -2.164 | 1.0 | D | 0.909 | 0.912 | 0.9041662 | gnomAD-4.0.0 | 3.18748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43398E-05 | 3.03049E-05 |
| W/C | 16471 |
Fn3-7 |
22 | rs202094100 |
0.9989 | -1.763 | 1.0 | D | 0.859 | 0.74 | 0.9065348 | gnomAD-2.1.1 | 3.877E-04 | None | None | None | None | N | None | 4.14E-05 | 1.4228E-04 | None | 9.74E-05 | 0 | None | 0 | None | 4.82664E-04 | 6.51481E-04 | 8.47218E-04 |
| W/C | 16471 |
Fn3-7 |
22 | rs202094100 |
0.9989 | -1.763 | 1.0 | D | 0.859 | 0.74 | 0.9065348 | gnomAD-3.1.2 | 3.75217E-04 | None | None | None | None | N | None | 9.66E-05 | 1.31354E-04 | 0 | 0 | 0 | None | 3.77003E-04 | 0 | 6.91868E-04 | 0 | 0 |
| W/C | 16471 |
Fn3-7 |
22 | rs202094100 |
0.9989 | -1.763 | 1.0 | D | 0.859 | 0.74 | 0.9065348 | gnomAD-4.0.0 | 6.85013E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00163E-07 | 0 | 0 |
| W/C | 16471 |
Fn3-7 |
22 | rs202094100 |
0.9989 | -1.763 | 1.0 | D | 0.859 | 0.74 | 0.9065348 |
Rees (2021)
| None |
MmD
|
comp het with R17337* | None | None | N | Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro (Tm 32 degrees lower than WT) | None | None | None | None | None | None | None | None | None | None | None |
| W/C | 16772 |
Fn3-10 |
22 | rs1433307898 |
0.9993 | -1.994 | 1.0 | D | 0.852 | 0.61 | 0.52956134 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.59631E-04 | None | 0 | None | 0 | 0 | 0 |
| W/R | 17068 |
Fn3-12 |
22 | rs2056011998 |
0.9998 | None | 1.0 | D | 0.912 | 0.874 | 0.8312836 | gnomAD-4.0.0 | 1.59329E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78133E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | 17068 |
Fn3-12 |
22 | None | 0.9986 | None | 1.0 | D | 0.888 | 0.865 | 0.8689413 | 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 |
| W/C | 17883 |
Fn3-18 |
22 | rs774663244 |
0.9993 | -2.181 | 1.0 | D | 0.839 | 0.875 | 0.8899971 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| W/C | 17883 |
Fn3-18 |
22 | rs774663244 |
0.9993 | -2.181 | 1.0 | D | 0.839 | 0.875 | 0.8899971 | gnomAD-4.0.0 | 1.59915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4393E-05 | 0 |
| W/R | 17883 |
Fn3-18 |
22 | None | 0.9998 | None | 1.0 | D | 0.907 | 0.92 | 0.9107007 | gnomAD-4.0.0 | 1.59817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87254E-06 | 0 | 0 |
| W/C | 18187 |
Fn3-20 |
22 | rs2054184713 |
0.9946 | None | 1.0 | D | 0.818 | 0.669 | 0.70762956 | 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 |
| W/C | 18187 |
Fn3-20 |
22 | rs2054184713 |
0.9946 | None | 1.0 | D | 0.818 | 0.669 | 0.70762956 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | 18187 |
Fn3-20 |
22 | rs796392077 |
0.9834 | -3.32 | 1.0 | D | 0.82 | 0.831 | 0.76537466 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/G | 18187 |
Fn3-20 |
22 | rs796392077 |
0.9834 | -3.32 | 1.0 | D | 0.82 | 0.831 | 0.76537466 | 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 |
| W/G | 18187 |
Fn3-20 |
22 | rs796392077 |
0.9834 | -3.32 | 1.0 | D | 0.82 | 0.831 | 0.76537466 | gnomAD-4.0.0 | 3.04529E-06 | None | None | None | None | N | None | 5.24347E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | 18806 |
Fn3-24 |
23 | rs1042225014 |
0.9949 | -1.201 | 0.997 | D | 0.838 | 0.799 | 0.6298015 | gnomAD-2.1.1 | 4.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.9E-05 | None | 0 | None | 0 | 0 | 0 |
| W/C | 18806 |
Fn3-24 |
23 | rs1042225014 |
0.9949 | -1.201 | 0.997 | D | 0.838 | 0.799 | 0.6298015 | gnomAD-4.0.0 | 1.63607E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.80065E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | 18806 |
Fn3-24 |
23 | None | 0.9704 | None | 0.822 | D | 0.847 | 0.822 | 0.8409166 | gnomAD-4.0.0 | 6.92739E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04593E-07 | 0 | 0 |
| W/R | 18905 |
Fn3-25 |
22 | rs1488040834 |
0.9997 | -2.048 | 1.0 | D | 0.893 | 0.772 | 0.93085665 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.11E-06 | 0 |
| W/R | 18905 |
Fn3-25 |
22 | rs1488040834 |
0.9997 | -2.048 | 1.0 | D | 0.893 | 0.772 | 0.93085665 | gnomAD-4.0.0 | 3.19706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73819E-06 | 0 | 0 |
| W/R | 19205 |
Fn3-27 |
23 | rs2154188330 |
0.9993 | None | 1.0 | D | 0.905 | 0.871 | 0.9281164 | gnomAD-4.0.0 | 3.43056E-06 | None | None | None | None | N | None | 2.99204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70241E-06 | 0 | 1.6603E-05 |
| W/S | 19205 |
Fn3-27 |
23 | rs772966626 |
0.9872 | -3.297 | 1.0 | D | 0.867 | 0.756 | 0.89238006 | gnomAD-4.0.0 | 6.86173E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17559E-05 | 0 |
| W/S | 19305 |
Fn3-28 |
22 | None | 0.9992 | None | 1.0 | D | 0.864 | 0.744 | 0.89935035 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99802E-07 | 0 | 1.65744E-05 |
| W/C | 19600 |
Fn3-30 |
22 | rs2050664676 |
0.9984 | None | 1.0 | D | 0.879 | 0.662 | 0.712387 | gnomAD-4.0.0 | 2.73762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 2.69885E-06 | 0 | 0 |
| W/C | 19898 |
Fn3-32 |
22 | rs750948166 |
0.9987 | -1.798 | 1.0 | D | 0.851 | 0.765 | 0.85438704 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| W/C | 19898 |
Fn3-32 |
22 | rs750948166 |
0.9987 | -1.798 | 1.0 | D | 0.851 | 0.765 | 0.85438704 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.15973E-04 | 0 |
| W/C | 19898 |
Fn3-32 |
22 | rs750948166 |
0.9987 | -1.798 | 1.0 | D | 0.851 | 0.765 | 0.85438704 | gnomAD-4.0.0 | 6.42084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39756E-06 | 5.37577E-05 | 0 |
| W/R | 19898 |
Fn3-32 |
22 | rs1415408093 |
0.9996 | -2.26 | 1.0 | D | 0.911 | 0.905 | 0.9038994 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | 19898 |
Fn3-32 |
22 | rs1415408093 |
0.9996 | -2.26 | 1.0 | D | 0.911 | 0.905 | 0.9038994 | 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 |
| W/R | 19898 |
Fn3-32 |
22 | rs1415408093 |
0.9996 | -2.26 | 1.0 | D | 0.911 | 0.905 | 0.9038994 | gnomAD-4.0.0 | 6.57557E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 20193 |
Fn3-34 |
23 | None | 0.999 | None | 1.0 | D | 0.904 | 0.88 | 0.9206777 | 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 |
| W/C | 20292 |
Fn3-35 |
22 | rs397517647 |
0.9946 | -1.865 | 1.0 | D | 0.849 | 0.732 | 0.84636503 | 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 |
| W/C | 20292 |
Fn3-35 |
22 | rs397517647 |
0.9946 | -1.865 | 1.0 | D | 0.849 | 0.732 | 0.84636503 | 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 |
| W/C | 20292 |
Fn3-35 |
22 | rs397517647 |
0.9946 | -1.865 | 1.0 | D | 0.849 | 0.732 | 0.84636503 | gnomAD-4.0.0 | 6.57713E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47085E-05 | 0 | 0 |
| W/R | 20292 |
Fn3-35 |
22 | rs748357485 |
0.9987 | -2.234 | 1.0 | D | 0.916 | 0.878 | 0.9280462 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 8.92E-06 | 0 |
| W/R | 20292 |
Fn3-35 |
22 | rs748357485 |
0.9987 | -2.234 | 1.0 | D | 0.916 | 0.878 | 0.9280462 | gnomAD-4.0.0 | 6.85888E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01786E-07 | 0 | 0 |
| W/S | 20292 |
Fn3-35 |
22 | rs781605494 |
0.9906 | -3.364 | 1.0 | D | 0.896 | 0.722 | 0.94278514 | 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 |
| W/S | 20292 |
Fn3-35 |
22 | rs781605494 |
0.9906 | -3.364 | 1.0 | D | 0.896 | 0.722 | 0.94278514 | gnomAD-4.0.0 | 3.20161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88291E-06 | 0 | 3.04044E-05 |
| W/G | 20392 |
Fn3-36 |
22 | rs778062181 |
0.9947 | -3.639 | 1.0 | D | 0.843 | 0.886 | 0.8222959 | gnomAD-2.1.1 | 6.47E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.26593E-04 | None | 0 | 0 | 0 |
| W/G | 20392 |
Fn3-36 |
22 | rs778062181 |
0.9947 | -3.639 | 1.0 | D | 0.843 | 0.886 | 0.8222959 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21118E-04 | 0 |
| W/G | 20392 |
Fn3-36 |
22 | rs778062181 |
0.9947 | -3.639 | 1.0 | D | 0.843 | 0.886 | 0.8222959 | gnomAD-4.0.0 | 2.97671E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.28157E-04 | 0 |
| W/G | 21085 |
Fn3-41 |
22 | None | 0.9768 | None | 1.0 | D | 0.825 | 0.831 | 0.6913405 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-06 | 0 | 0 |
| W/R | 21287 |
Fn3-42 |
22 | None | 0.999 | None | 1.0 | D | 0.928 | 0.857 | 0.8780253 | gnomAD-4.0.0 | 1.59661E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86553E-06 | 0 | 0 |
| W/C | 21387 |
Fn3-43 |
22 | None | 0.9982 | None | 1.0 | D | 0.808 | 0.76 | 0.893464 | gnomAD-4.0.0 | 1.59276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| W/R | 21581 |
Fn3-44 |
23 | rs1455212617 |
0.9996 | -2.244 | 1.0 | D | 0.898 | 0.781 | 0.9153941 | 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 |
| W/R | 21581 |
Fn3-44 |
23 | rs1455212617 |
0.9996 | -2.244 | 1.0 | D | 0.898 | 0.781 | 0.9153941 | gnomAD-4.0.0 | 1.11459E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71997E-06 | 7.16538E-05 | 0 |
| W/S | 21977 |
Fn3-47 |
22 | None | 0.9988 | None | 1.0 | D | 0.889 | 0.871 | 0.9532645 | gnomAD-4.0.0 | 6.84578E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99826E-07 | 0 | 0 |
| W/L | 22177 |
Fn3-49 |
22 | None | 0.9887 | None | 1.0 | D | 0.875 | 0.828 | 0.9310538 | gnomAD-4.0.0 | 1.60362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.89372E-05 | 0 | 0 | 0 | 0 |
| W/R | 22375 |
Fn3-50 |
22 | None | 0.9995 | None | 1.0 | D | 0.893 | 0.87 | 0.911218 | gnomAD-4.0.0 | 6.84437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99677E-07 | 0 | 0 |
| W/C | 23061 |
Fn3-55 |
22 | None | 0.9986 | None | 1.0 | D | 0.849 | 0.825 | 0.9068627 | gnomAD-4.0.0 | 2.05337E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69905E-06 | 0 | 0 |
| W/R | 23061 |
Fn3-55 |
22 | None | 0.9996 | None | 1.0 | D | 0.906 | 0.909 | 0.92852 | gnomAD-4.0.0 | 1.59258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86051E-06 | 0 | 0 |
| W/C | 23160 |
Fn3-56 |
22 | rs1428157842 |
0.9973 | -1.923 | 1.0 | D | 0.879 | 0.801 | 0.83314437 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | 23160 |
Fn3-56 |
22 | rs1428157842 |
0.9973 | -1.923 | 1.0 | D | 0.879 | 0.801 | 0.83314437 | 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 |
| W/C | 23160 |
Fn3-56 |
22 | rs1428157842 |
0.9973 | -1.923 | 1.0 | D | 0.879 | 0.801 | 0.83314437 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 2.41511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 23160 |
Fn3-56 |
22 | None | 0.9993 | None | 1.0 | D | 0.923 | 0.865 | 0.9110592 | 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 |
| W/G | 23553 |
Fn3-59 |
22 | None | 0.9817 | None | 1.0 | D | 0.851 | 0.813 | 0.86286837 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
| W/R | 23748 |
Fn3-60 |
23 | rs1319154983 |
0.9997 | -2.158 | 1.0 | D | 0.92 | 0.896 | 0.87852633 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.01E-06 | 0 |
| W/C | 23945 |
Fn3-62 |
22 | rs1217858818 |
0.9991 | -1.815 | 1.0 | D | 0.816 | 0.879 | 0.68165 | 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 |
| W/C | 23945 |
Fn3-62 |
22 | rs1217858818 |
0.9991 | -1.815 | 1.0 | D | 0.816 | 0.879 | 0.68165 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85928E-06 | 0 | 0 |
| W/R | 23945 |
Fn3-62 |
22 | rs553796385 |
0.9995 | -2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505515 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | 23945 |
Fn3-62 |
22 | rs553796385 |
0.9995 | -2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505515 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30804E-04 | None | 0 | 0 | 0 |
| W/R | 23945 |
Fn3-62 |
22 | rs553796385 |
0.9995 | -2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505515 | 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 |
| W/R | 23945 |
Fn3-62 |
22 | rs553796385 |
0.9995 | -2.075 | 1.0 | D | 0.88 | 0.871 | 0.92505515 | gnomAD-4.0.0 | 5.578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.88381E-05 | 0 |
| W/C | 24144 |
Fn3-63 |
23 | None | 0.9944 | None | 1.0 | D | 0.859 | 0.747 | 0.8134139 | 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 |
| W/R | 24144 |
Fn3-63 |
23 | rs554779387 |
0.999 | -2.315 | 1.0 | D | 0.909 | 0.873 | 0.9137603 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | 24144 |
Fn3-63 |
23 | rs554779387 |
0.999 | -2.315 | 1.0 | D | 0.909 | 0.873 | 0.9137603 | gnomAD-2.1.1 | 5.31E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.11E-05 | None | 0 | 0 | 0 |
| W/R | 24144 |
Fn3-63 |
23 | rs554779387 |
0.999 | -2.315 | 1.0 | D | 0.909 | 0.873 | 0.9137603 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| W/R | 24144 |
Fn3-63 |
23 | rs554779387 |
0.999 | -2.315 | 1.0 | D | 0.909 | 0.873 | 0.9137603 | gnomAD-4.0.0 | 1.82183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.20174E-06 | 0 | 0 |
| W/R | 24243 |
Fn3-64 |
22 | None | 0.9988 | None | 1.0 | D | 0.913 | 0.862 | 0.9324558 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/C | 24344 |
Fn3-65 |
22 | None | 0.9987 | None | 1.0 | D | 0.845 | 0.738 | 0.86254644 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-06 | 0 | 0 |
| W/L | 24344 |
Fn3-65 |
22 | None | 0.9928 | None | 1.0 | D | 0.86 | 0.711 | 0.9174293 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78242E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | 24540 |
Fn3-66 |
22 | rs564995755 |
0.9946 | -3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| W/G | 24540 |
Fn3-66 |
22 | rs564995755 |
0.9946 | -3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427 | 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 |
| W/G | 24540 |
Fn3-66 |
22 | rs564995755 |
0.9946 | -3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | 24540 |
Fn3-66 |
22 | rs564995755 |
0.9946 | -3.804 | 1.0 | D | 0.811 | 0.851 | 0.640427 | gnomAD-4.0.0 | 6.56918E-06 | None | None | None | None | N | None | 0 | 6.54365E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 24540 |
Fn3-66 |
22 | None | 0.9999 | None | 1.0 | D | 0.867 | 0.834 | 0.914327 | 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 |
| W/C | 24830 |
Fn3-68 |
23 | None | 0.9987 | None | 1.0 | D | 0.861 | 0.785 | 0.8707549 | 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 |
| W/R | 24929 |
Fn3-69 |
22 | None | 0.9996 | None | 0.994 | D | 0.905 | 0.845 | 0.8993035 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| W/C | 25325 |
Fn3-72 |
22 | rs746749916 |
0.9982 | -1.706 | 1.0 | D | 0.877 | 0.813 | 0.8626233 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30762E-04 | None | 0 | 0 | 0 |
| W/C | 25325 |
Fn3-72 |
22 | rs746749916 |
0.9982 | -1.706 | 1.0 | D | 0.877 | 0.813 | 0.8626233 | gnomAD-4.0.0 | 1.43262E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.28966E-04 | 0 |
| W/R | 25325 |
Fn3-72 |
22 | rs1707625464 |
0.9996 | None | 1.0 | D | 0.921 | 0.848 | 0.9453121 | gnomAD-4.0.0 | 1.3686E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99565E-07 | 0 | 1.65689E-05 |
| W/S | 25426 |
Fn3-73 |
22 | None | 0.9918 | None | 1.0 | D | 0.872 | 0.795 | 0.8656663 | gnomAD-4.0.0 | 1.59191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-05 |
| W/R | 25622 |
Fn3-74 |
22 | None | 0.9997 | None | 1.0 | D | 0.916 | 0.861 | 0.9058083 | 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 |
| W/C | 25719 |
Fn3-75 |
22 | rs1707088255 |
0.9991 | None | 1.0 | D | 0.847 | 0.858 | 0.8382898 | 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 |
| W/G | 25719 |
Fn3-75 |
22 | None | 0.9908 | None | 1.0 | D | 0.847 | 0.868 | 0.8706757 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15972E-05 | 0 |
| W/R | 25719 |
Fn3-75 |
22 | None | 0.9997 | None | 1.0 | D | 0.914 | 0.877 | 0.8978057 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 0 | 0 |
| W/C | 25912 |
Fn3-76 |
23 | rs759946219 |
0.9987 | -1.873 | 1.0 | D | 0.883 | 0.867 | 0.84764683 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | 25912 |
Fn3-76 |
23 | rs759946219 |
0.9987 | -1.873 | 1.0 | D | 0.883 | 0.867 | 0.84764683 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 2.28948E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | 26011 |
Fn3-77 |
22 | None | 0.9989 | None | 1.0 | D | 0.875 | 0.879 | 0.9036533 | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 0 |
| W/S | 26308 |
Fn3-79 |
23 | rs1201085993 |
0.9966 | -3.363 | 0.967 | D | 0.897 | 0.758 | 0.9367067 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| W/S | 26308 |
Fn3-79 |
23 | rs1201085993 |
0.9966 | -3.363 | 0.967 | D | 0.897 | 0.758 | 0.9367067 | gnomAD-4.0.0 | 1.59931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87285E-06 | 0 | 0 |
| W/R | 26407 |
Fn3-80 |
22 | rs1018970512 |
0.9995 | -2.26 | 1.0 | D | 0.903 | 0.92 | 0.9204127 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | N | None | 0 | 3.76943E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | 26407 |
Fn3-80 |
22 | rs1018970512 |
0.9995 | -2.26 | 1.0 | D | 0.903 | 0.92 | 0.9204127 | gnomAD-3.1.2 | 1.24882E-04 | None | None | None | None | N | None | 0 | 1.24606E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 26407 |
Fn3-80 |
22 | rs1018970512 |
0.9995 | -2.26 | 1.0 | D | 0.903 | 0.92 | 0.9204127 | gnomAD-4.0.0 | 4.10026E-05 | None | None | None | None | N | None | 0 | 5.42667E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | 26508 |
Fn3-81 |
22 | rs765149776 |
0.9959 | -1.41 | 1.0 | D | 0.837 | 0.854 | 0.90046436 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| W/C | 26508 |
Fn3-81 |
22 | rs765149776 |
0.9959 | -1.41 | 1.0 | D | 0.837 | 0.854 | 0.90046436 | gnomAD-4.0.0 | 1.59441E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
| W/L | 26704 |
Fn3-82 |
22 | rs780184497 |
0.9827 | -2.631 | 1.0 | D | 0.875 | 0.854 | 0.88135195 | 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 |
| W/L | 26704 |
Fn3-82 |
22 | rs780184497 |
0.9827 | -2.631 | 1.0 | D | 0.875 | 0.854 | 0.88135195 | gnomAD-4.0.0 | 1.59186E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-06 | 0 | 0 |
| W/R | 26801 |
Fn3-83 |
22 | None | 0.9994 | None | 1.0 | D | 0.892 | 0.839 | 0.8982589 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 0 | 0 |
| W/C | 27093 |
Fn3-85 |
22 | None | 0.9986 | None | 0.056 | D | 0.744 | 0.806 | 0.84250754 | 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 |
| W/L | 27093 |
Fn3-85 |
22 | rs758518537 |
0.9909 | -2.815 | 0.805 | D | 0.843 | 0.705 | 0.9403218 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| W/L | 27093 |
Fn3-85 |
22 | rs758518537 |
0.9909 | -2.815 | 0.805 | D | 0.843 | 0.705 | 0.9403218 | gnomAD-4.0.0 | 1.59282E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43538E-05 | 0 |
| W/C | 27191 |
Fn3-86 |
22 | rs267599035 |
0.9994 | None | 1.0 | D | 0.847 | 0.65 | 0.8956078 | 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 |
| W/R | 27391 |
Fn3-87 |
23 | rs778983249 |
0.9993 | -2.451 | 1.0 | D | 0.89 | 0.819 | 0.90659606 | 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 |
| W/R | 27391 |
Fn3-87 |
23 | rs778983249 |
0.9993 | -2.451 | 1.0 | D | 0.89 | 0.819 | 0.90659606 | gnomAD-4.0.0 | 4.78965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39703E-06 | 1.15939E-05 | 0 |
| W/R | 27490 |
Fn3-88 |
22 | rs757683923 |
0.999 | -2.348 | 1.0 | D | 0.913 | 0.809 | 0.9437192 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 8.87E-06 | 0 |
| W/R | 27490 |
Fn3-88 |
22 | rs757683923 |
0.999 | -2.348 | 1.0 | D | 0.913 | 0.809 | 0.9437192 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| W/R | 27490 |
Fn3-88 |
22 | rs757683923 |
0.999 | -2.348 | 1.0 | D | 0.913 | 0.809 | 0.9437192 | gnomAD-4.0.0 | 2.73679E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 8.99475E-07 | 1.15937E-05 | 1.65651E-05 |
| W/S | 27490 |
Fn3-88 |
22 | None | 0.9926 | None | 1.0 | D | 0.892 | 0.734 | 0.9600357 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85834E-06 | 0 | 0 |
| W/C | 28175 |
Fn3-93 |
22 | rs886042366 |
0.9975 | -1.887 | 1.0 | D | 0.842 | 0.774 | 0.78326976 | 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 |
| W/C | 28175 |
Fn3-93 |
22 | rs886042366 |
0.9975 | -1.887 | 1.0 | D | 0.842 | 0.774 | 0.78326976 | 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 |
| W/C | 28175 |
Fn3-93 |
22 | rs886042366 |
0.9975 | -1.887 | 1.0 | D | 0.842 | 0.774 | 0.78326976 | gnomAD-4.0.0 | 2.56478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78955E-06 | 0 | 0 |
| W/C | 28273 |
Fn3-94 |
22 | rs72648222 |
0.9987 | None | 1.0 | D | 0.823 | 0.862 | 0.71726036 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| W/R | 28571 |
Fn3-96 |
22 | None | 0.9978 | None | 0.982 | D | 0.88 | 0.83 | 0.8918447 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-05 |
| W/S | 28571 |
Fn3-96 |
22 | None | 0.9878 | None | 0.322 | D | 0.74 | 0.617 | 0.87175965 | gnomAD-4.0.0 | 6.84259E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52283E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | 28866 |
Fn3-98 |
22 | rs779438420 |
0.9961 | -3.301 | 1.0 | D | 0.896 | 0.804 | 0.95174956 | 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 |
| W/S | 28866 |
Fn3-98 |
22 | rs779438420 |
0.9961 | -3.301 | 1.0 | D | 0.896 | 0.804 | 0.95174956 | gnomAD-4.0.0 | 3.18275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71719E-06 | 0 | 0 |
| W/S | 29555 |
Fn3-103 |
23 | None | 0.9956 | None | 1.0 | D | 0.868 | 0.842 | 0.8991958 | 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 |
| W/C | 29755 |
Fn3-105 |
22 | None | 0.9972 | None | 1.0 | D | 0.87 | 0.857 | 0.88115615 | gnomAD-4.0.0 | 2.0534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79935E-06 | 0 | 1.65706E-05 |
| W/C | 30345 |
Fn3-109 |
22 | None | 0.9971 | None | 1.0 | D | 0.853 | 0.829 | 0.82621217 | 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 |
| W/R | 30345 |
Fn3-109 |
22 | None | 0.9994 | None | 1.0 | D | 0.912 | 0.869 | 0.9015945 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.7669E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 30443 |
Fn3-110 |
22 | rs1396920730 |
0.9998 | -2.362 | 1.0 | D | 0.919 | 0.925 | 0.86895114 | 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 |
| W/R | 30443 |
Fn3-110 |
22 | rs1396920730 |
0.9998 | -2.362 | 1.0 | D | 0.919 | 0.925 | 0.86895114 | gnomAD-4.0.0 | 3.18375E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86599E-05 | 0 |
| W/R | 30740 |
Fn3-112 |
22 | None | 0.9993 | None | 1.0 | D | 0.931 | 0.914 | 0.9365911 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| W/C | 30842 |
Fn3-113 |
22 | None | 0.9973 | None | 1.0 | D | 0.857 | 0.884 | 0.90233856 | 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 |
| W/G | 31330 |
Fn3-116 |
23 | None | 0.9831 | None | 1.0 | D | 0.847 | 0.903 | 0.7006084 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| W/S | 31330 |
Fn3-116 |
23 | rs879156764 |
0.9943 | None | 1.0 | D | 0.895 | 0.77 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | 31330 |
Fn3-116 |
23 | rs879156764 |
0.9943 | None | 1.0 | D | 0.895 | 0.77 | None | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | 31429 |
Fn3-117 |
22 | None | 0.9989 | None | 1.0 | D | 0.844 | 0.772 | 0.887747 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85858E-06 | 0 | 0 |
| W/R | 31429 |
Fn3-117 |
22 | None | 0.9997 | -1.936 | 1.0 | D | 0.913 | 0.861 | 0.90655375 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | 31429 |
Fn3-117 |
22 | None | 0.9997 | -1.936 | 1.0 | D | 0.913 | 0.861 | 0.90655375 |
Evila (2016)
| None |
TMD
|
comp het with R21209* | None | None | N | Genetic analysis of genes in 10 TMD families; co-segregation in 2-generation family (recessive inheritance, n = 3, 1 affected (total 5; disease state only where compound heterozygous for both W31429R and R21209*)); variant prioritisation; comp het with R21209* | None | None | None | None | None | None | None | None | None | None | None |
| W/L | 31527 |
Fn3-118 |
22 | rs758317232 |
0.9931 | -2.654 | 1.0 | D | 0.855 | 0.711 | 0.9402244 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| W/C | 31729 |
Fn3-119 |
22 | rs869320742 |
0.9937 | -1.772 | 1.0 | D | 0.865 | 0.956 | 0.905035 | gnomAD-4.0.0 | 6.1583E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09561E-06 | 0 | 0 |
| W/C | 31729 |
Fn3-119 |
22 | rs869320742 |
0.9937 | -1.772 | 1.0 | D | 0.865 | 0.956 | 0.905035 |
Palmio (2013)
Hedberg (2014)
Bugiardini (2018)
Palmio (2019)
| None |
HMERF
|
het | None | None | N | WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 2, 2 affected (total 4)); Genetic analysis of genes in 12 HMERF families (n = 4, 4 affected) | None | None | None | None | None | None | None | None | None | None | None |
| W/L | 31729 |
Fn3-119 |
22 | rs786205367 |
0.9589 | -2.41 | 1.0 | D | 0.851 | 0.903 | 0.9472085 |
Izumi (2013)
| None |
MFM
HMERF
|
het | None | None | N | Genetic analysis of single JP family; co-segregates within family (n = 5, 5 affected (total 10)); linkage analysis; not found in ethnic controls | None | None | None | None | None | None | None | None | None | None | None |
| W/R | 31729 |
Fn3-119 |
22 | rs869320741 |
0.999 | -2.066 | 1.0 | D | 0.917 | 0.934 | 0.922935 |
Palmio (2013)
Hedberg (2014)
Huang (2021)
| None |
HMERF
|
het | None | None | N | WES/WGS prioritisation in 12 HMERF families; dominant effect, unknown penetrance | None | None | None | None | None | None | None | None | None | None | None |
| W/C | 31930 |
Fn3-121 |
22 | None | 0.9978 | None | 1.0 | D | 0.865 | 0.644 | 0.8955146 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| W/C | 32126 |
Fn3-122 |
22 | rs794729542 |
0.9974 | None | 1.0 | D | 0.835 | 0.834 | 0.8202082 | gnomAD-4.0.0 | 6.8766E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6581E-05 |
| W/C | 32223 |
Fn3-123 |
22 | None | 0.9914 | None | 1.0 | D | 0.759 | 0.854 | 0.8209769 | 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 |
| W/C | 32421 |
Fn3-124 |
23 | None | 0.9979 | None | 1.0 | D | 0.842 | 0.743 | 0.90972286 | gnomAD-4.0.0 | 3.1876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77762E-05 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| W/L | 32520 |
Fn3-125 |
22 | rs1694490172 |
0.967 | None | 1.0 | D | 0.873 | 0.871 | 0.9340927 | gnomAD-4.0.0 | 2.73824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59904E-06 | 0 | 0 |
| W/C | 32918 |
Fn3-128 |
23 | rs1428429290 |
0.9987 | -1.538 | 1.0 | D | 0.792 | 0.627 | 0.8511094 | 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 |
| W/C | 33019 |
Fn3-129 |
22 | None | 0.9981 | None | 1.0 | D | 0.853 | 0.7 | 0.8266323 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 0 | 0 |
| W/R | 33413 |
Fn3-131 |
22 | None | 0.9995 | None | 1.0 | D | 0.897 | 0.888 | 0.92345905 | gnomAD-4.0.0 | 1.43003E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.84717E-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.