Structural position:
- Domain Type: Ig
- Aligned Position: 25
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | 21 |
Ig-1 |
16 | rs1211610408 |
0.1437 | -0.311 | 0.966 | N | 0.425 | 0.291 | 0.533179623451 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.542(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/T | 21 |
Ig-1 |
16 | rs1211610408 |
0.1437 | -0.311 | 0.966 | N | 0.425 | 0.291 | 0.533179623451 | gnomAD-4.0.0 | 6.84119E-07 | None | None | None | -0.542(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 0 |
| S/T | 119 |
Ig-2 |
16 | rs371981798 |
0.2879 | -0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-2.1.1 | 4E-06 | None | None | None | -0.443(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | 119 |
Ig-2 |
16 | rs371981798 |
0.2879 | -0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.443(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 119 |
Ig-2 |
16 | rs371981798 |
0.2879 | -0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-4.0.0 | 2.48068E-06 | None | None | None | -0.443(TCAP) | N | None | 2.67023E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48171E-07 | 0 | 1.60143E-05 |
| E/D | 958 |
Ig-3 |
16 | None | 0.4275 | None | 0.999 | N | 0.413 | 0.368 | 0.315903272564 | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31256E-06 | 0 | 0 |
| G/W | 1097 |
Ig-4 |
16 | None | 0.5472 | None | 1.0 | N | 0.756 | 0.41 | 0.571625278582 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| M/I | 1306 |
Ig-5 |
16 | rs2092551024 |
0.5532 | None | 0.351 | N | 0.231 | 0.183 | 0.301789629655 | gnomAD-4.0.0 | 1.20045E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/K | 1306 |
Ig-5 |
16 | rs1410771859 |
0.361 | 0.523 | 0.002 | N | 0.135 | 0.233 | 0.358340041657 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| M/K | 1306 |
Ig-5 |
16 | rs1410771859 |
0.361 | 0.523 | 0.002 | N | 0.135 | 0.233 | 0.358340041657 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85732E-06 | 0 | 0 |
| M/L | 1306 |
Ig-5 |
16 | rs1480447156 |
0.2001 | 0.103 | 0.047 | N | 0.228 | 0.238 | 0.386234084001 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| M/L | 1306 |
Ig-5 |
16 | rs1480447156 |
0.2001 | 0.103 | 0.047 | N | 0.228 | 0.238 | 0.386234084001 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85724E-06 | 0 | 0 |
| S/F | 1571 |
Ig-7 |
16 | None | 0.1921 | None | 0.002 | N | 0.333 | 0.2 | 0.275641507738 | gnomAD-4.0.0 | 6.84106E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99316E-07 | 0 | 0 |
| S/Y | 1571 |
Ig-7 |
16 | None | 0.1839 | None | 0.272 | N | 0.472 | 0.194 | 0.292423486923 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79863E-06 | 0 | 0 |
| G/E | 1718 |
Ig-8 |
16 | rs1421424286 |
0.9161 | -0.871 | 1.0 | N | 0.793 | 0.607 | 0.603850281814 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | 1718 |
Ig-8 |
16 | rs1421424286 |
0.9161 | -0.871 | 1.0 | N | 0.793 | 0.607 | 0.603850281814 | gnomAD-4.0.0 | 1.5907E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | 1718 |
Ig-8 |
16 | None | 0.942 | None | 1.0 | N | 0.794 | 0.597 | 0.770447311172 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| E/K | 1856 |
Ig-9 |
16 | rs1315454944 |
0.7708 | None | 0.896 | N | 0.383 | 0.191 | 0.156986980423 | 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 | 1856 |
Ig-9 |
16 | rs1315454944 |
0.7708 | None | 0.896 | N | 0.383 | 0.191 | 0.156986980423 | gnomAD-4.0.0 | 1.05332E-05 | None | None | None | None | N | None | 1.33483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35593E-05 | 0 | 0 |
| D/Y | 2189 |
Ig-11 |
16 | rs1252868552 |
0.5209 | -0.573 | 1.0 | N | 0.791 | 0.55 | 0.355034743287 | 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 |
| Y/F | 2282 |
Ig-12 |
16 | None | 0.0509 | None | None | N | 0.157 | 0.057 | 0.101711395817 | gnomAD-4.0.0 | 6.84216E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| Y/H | 2282 |
Ig-12 |
16 | rs727503691 |
0.2759 | None | 0.484 | N | 0.33 | 0.148 | None | 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 |
| Y/H | 2282 |
Ig-12 |
16 | rs727503691 |
0.2759 | None | 0.484 | N | 0.33 | 0.148 | None | gnomAD-4.0.0 | 2.47906E-06 | None | None | None | None | N | None | 4.00374E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-07 | 0 | 0 |
| Y/S | 2282 |
Ig-12 |
16 | rs754307416 |
0.2283 | -1.211 | 0.211 | N | 0.295 | 0.146 | 0.239305524855 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/S | 2282 |
Ig-12 |
16 | rs754307416 |
0.2283 | -1.211 | 0.211 | N | 0.295 | 0.146 | 0.239305524855 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| Y/S | 2282 |
Ig-12 |
16 | rs754307416 |
0.2283 | -1.211 | 0.211 | N | 0.295 | 0.146 | 0.239305524855 | gnomAD-4.0.0 | 4.33773E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.6442E-04 | 1.69499E-06 | 2.19578E-05 | 3.20082E-05 |
| D/E | 2371 |
Ig-13 |
16 | None | 0.6669 | None | 1.0 | N | 0.463 | 0.383 | 0.421674004627 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-06 | 0 | 0 |
| D/G | 2371 |
Ig-13 |
16 | None | 0.8421 | None | 1.0 | D | 0.711 | 0.691 | 0.622692979393 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 5.65419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 2460 |
Ig-14 |
16 | None | 0.1571 | None | 0.919 | N | 0.42 | 0.199 | 0.195762928549 | gnomAD-4.0.0 | 1.59071E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85673E-06 | 0 | 0 |
| Q/H | 2548 |
Ig-15 |
16 | None | 0.5625 | None | 0.999 | N | 0.371 | 0.242 | 0.124217242631 | 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 |
| Q/R | 2548 |
Ig-15 |
16 | rs2091804454 |
0.218 | None | 0.98 | N | 0.414 | 0.301 | 0.12205267543 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| Q/R | 2635 |
Ig-16 |
15 | rs773524537 |
0.3234 | 0.254 | 0.997 | N | 0.458 | 0.381 | 0.0806252709748 | gnomAD-4.0.0 | 1.59093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85749E-06 | 0 | 0 |
| Q/K | 2722 |
Ig-17 |
16 | None | 0.1228 | None | 0.997 | D | 0.446 | 0.688 | 0.450733807028 | 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 |
| Q/P | 2722 |
Ig-17 |
16 | None | 0.8848 | None | 0.999 | D | 0.587 | 0.849 | 0.714752477654 | gnomAD-4.0.0 | 6.84147E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 0 | 0 |
| Q/R | 2722 |
Ig-17 |
16 | rs752069599 |
0.1589 | 0.282 | 0.997 | D | 0.495 | 0.81 | 0.460438652622 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| A/G | 2810 |
Ig-18 |
16 | rs1431193511 |
0.1448 | -1.23 | 0.002 | N | 0.135 | 0.142 | 0.15556083564 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | 2810 |
Ig-18 |
16 | rs1431193511 |
0.1448 | -1.23 | 0.002 | N | 0.135 | 0.142 | 0.15556083564 | gnomAD-4.0.0 | 3.18097E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76554E-05 | 0 | None | 0 | 0 | 2.85649E-06 | 0 | 0 |
| A/V | 2810 |
Ig-18 |
16 | None | 0.1775 | None | 0.379 | N | 0.437 | 0.187 | 0.306695030598 | gnomAD-4.0.0 | 3.18097E-06 | None | None | None | None | N | None | 0 | 4.57268E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | 2984 |
Ig-20 |
16 | rs2090998347 |
0.6939 | None | 1.0 | D | 0.663 | 0.393 | 0.202086224978 | 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 | 2984 |
Ig-20 |
16 | rs2090998347 |
0.6939 | None | 1.0 | D | 0.663 | 0.393 | 0.202086224978 | gnomAD-4.0.0 | 3.09815E-06 | None | None | None | None | N | None | 1.33518E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38982E-06 | 0 | 0 |
| D/Y | 2984 |
Ig-20 |
16 | rs2090998347 |
0.9264 | None | 1.0 | D | 0.774 | 0.631 | 0.54626238531 | gnomAD-4.0.0 | 4.10473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39582E-06 | 0 | 0 |
| Q/K | 3162 |
Ig-22 |
16 | None | 0.1884 | None | 0.99 | N | 0.435 | 0.314 | 0.101711395817 | gnomAD-4.0.0 | 6.00442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.2524E-06 | 0 | 3.66542E-05 |
| Q/R | 3162 |
Ig-22 |
16 | rs727503681 |
0.2528 | 0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-2.1.1 | 3.03519E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.0393E-03 | None | 3.27E-05 | None | 0 | 8.85E-06 | 0 |
| Q/R | 3162 |
Ig-22 |
16 | rs727503681 |
0.2528 | 0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.34615E-03 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | 3162 |
Ig-22 |
16 | rs727503681 |
0.2528 | 0.014 | 0.98 | N | 0.446 | 0.245 | None | gnomAD-4.0.0 | 8.7387E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.01084E-03 | None | 0 | 0 | 2.543E-06 | 1.09798E-05 | 3.20143E-05 |
| K/E | 3254 |
Ig-23 |
16 | None | 0.2928 | None | 0.767 | N | 0.272 | 0.274 | 0.304108284078 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | 3254 |
Ig-23 |
16 | rs766499138 |
0.4132 | -0.456 | 0.999 | N | 0.589 | 0.585 | 0.514358602855 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/H | 3360 |
Ig-24 |
16 | None | 0.1764 | None | None | N | 0.24 | 0.112 | 0.151104730317 | gnomAD-4.0.0 | 6.84092E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99324E-07 | 0 | 0 |
| Q/K | 3360 |
Ig-24 |
16 | rs1259534996 |
0.0797 | None | 0.012 | N | 0.245 | 0.123 | 0.199424873507 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | 3360 |
Ig-24 |
16 | rs1259534996 |
0.0797 | None | 0.012 | N | 0.245 | 0.123 | 0.199424873507 | gnomAD-4.0.0 | 1.31427E-05 | None | None | None | None | N | None | 4.82625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | 3480 |
Ig-25 |
16 | rs267599081 |
0.2836 | -0.53 | None | None | None | 0.171 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/D | 3480 |
Ig-25 |
16 | rs267599081 |
0.2836 | -0.53 | None | None | None | 0.171 | None | gnomAD-4.0.0 | 2.05275E-06 | None | None | None | None | I | None | 0 | 4.47207E-05 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 0 | 0 |
| E/V | 3480 |
Ig-25 |
16 | rs1023713962 |
0.7136 | -0.275 | None | None | None | 0.194 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| E/V | 3480 |
Ig-25 |
16 | rs1023713962 |
0.7136 | -0.275 | None | None | None | 0.194 | None | gnomAD-4.0.0 | 1.77899E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33873E-05 | 0 | 0 |
| D/E | 3675 |
Ig-26 |
16 | rs1046292255 |
0.3439 | None | None | None | None | 0.056 | None | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| D/G | 3835 |
Ig-27 |
16 | rs1453631686 |
0.2532 | -0.69 | 0.989 | N | 0.518 | 0.386 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| D/Y | 3835 |
Ig-27 |
16 | rs1303962639 |
0.244 | 0.088 | 1.0 | N | 0.707 | 0.351 | None | 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 |
| D/Y | 3835 |
Ig-27 |
16 | rs1303962639 |
0.244 | 0.088 | 1.0 | N | 0.707 | 0.351 | None | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | 4621 |
Ig-29 |
16 | None | 0.1138 | None | 0.003 | N | 0.163 | 0.089 | 0.226586394389 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 0 | 0 |
| H/Y | 4715 |
Ig-30 |
16 | rs376855980 |
0.2345 | 0.984 | 0.969 | N | 0.295 | 0.179 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/Q | 4810 |
Ig-31 |
16 | rs367630668 |
0.2009 | -0.452 | 0.957 | N | 0.307 | 0.212 | 0.0401082797425 | gnomAD-2.1.1 | 6.82E-05 | None | None | None | None | I | None | 8.28E-05 | 3.69654E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 5.64972E-04 |
| K/Q | 4810 |
Ig-31 |
16 | rs367630668 |
0.2009 | -0.452 | 0.957 | N | 0.307 | 0.212 | 0.0401082797425 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 7.24E-05 | 1.96515E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | 4810 |
Ig-31 |
16 | rs367630668 |
0.2009 | -0.452 | 0.957 | N | 0.307 | 0.212 | 0.0401082797425 | gnomAD-4.0.0 | 1.67492E-05 | None | None | None | None | I | None | 4.00716E-05 | 3.8414E-04 | None | 0 | 0 | None | 0 | 0 | 8.48355E-07 | 0 | 0 |
| K/R | 4810 |
Ig-31 |
16 | rs375443901 |
0.1058 | -0.374 | 0.996 | N | 0.471 | 0.211 | 0.0297737177859 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | 4810 |
Ig-31 |
16 | rs375443901 |
0.1058 | -0.374 | 0.996 | N | 0.471 | 0.211 | 0.0297737177859 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | 4810 |
Ig-31 |
16 | rs375443901 |
0.1058 | -0.374 | 0.996 | N | 0.471 | 0.211 | 0.0297737177859 | gnomAD-4.0.0 | 7.70323E-06 | None | None | None | None | I | None | 1.01537E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | 4903 |
Ig-32 |
16 | rs1060500444 |
0.4319 | None | 0.028 | N | 0.12 | 0.118 | 0.124217242631 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | 4903 |
Ig-32 |
16 | None | 0.0819 | None | 0.912 | N | 0.259 | 0.116 | 0.241664281697 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 0 |
| K/T | 4903 |
Ig-32 |
16 | None | 0.2422 | None | 0.064 | N | 0.219 | 0.156 | 0.166414681773 | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 0 |
| E/D | 4997 |
Ig-33 |
17 | None | 0.1595 | None | 0.006 | N | 0.153 | 0.083 | 0.101711395817 | gnomAD-4.0.0 | 1.60003E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79049E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | 4997 |
Ig-33 |
17 | rs775749900 |
0.3185 | -1.037 | 0.002 | N | 0.176 | 0.138 | 0.235664433957 | gnomAD-2.1.1 | 2.08E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.66456E-04 | None | 0 | 0 | 0 |
| E/G | 4997 |
Ig-33 |
17 | rs775749900 |
0.3185 | -1.037 | 0.002 | N | 0.176 | 0.138 | 0.235664433957 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| E/G | 4997 |
Ig-33 |
17 | rs775749900 |
0.3185 | -1.037 | 0.002 | N | 0.176 | 0.138 | 0.235664433957 | gnomAD-4.0.0 | 1.05588E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.87353E-04 | 0 |
| T/A | 5090 |
Ig-34 |
16 | rs905162172 |
0.0646 | -1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-2.1.1 | 9.55E-05 | None | None | None | None | N | None | 3.44274E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | 5090 |
Ig-34 |
16 | rs905162172 |
0.0646 | -1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 5090 |
Ig-34 |
16 | rs905162172 |
0.0646 | -1.021 | None | N | 0.138 | 0.086 | 0.151104730317 | gnomAD-4.0.0 | 2.62816E-05 | None | None | None | None | N | None | 9.64878E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | 5090 |
Ig-34 |
16 | None | 0.2338 | None | 0.012 | N | 0.409 | 0.168 | 0.512021964565 | gnomAD-4.0.0 | 6.88867E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04172E-07 | 0 | 0 |
| T/K | 5090 |
Ig-34 |
16 | rs750622009 |
0.1846 | -0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.55E-05 | None | 0 | 0 | 0 |
| T/K | 5090 |
Ig-34 |
16 | rs750622009 |
0.1846 | -0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | 5090 |
Ig-34 |
16 | rs750622009 |
0.1846 | -0.427 | 0.055 | N | 0.413 | 0.157 | 0.448000600372 | gnomAD-4.0.0 | 1.2469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23434E-05 | None | 0 | 0 | 0 | 1.11957E-05 | 0 |
| D/N | 5276 |
Ig-36 |
16 | rs769246267 |
0.1947 | 0.592 | 0.993 | N | 0.719 | 0.226 | 0.158396225186 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| D/N | 5276 |
Ig-36 |
16 | rs769246267 |
0.1947 | 0.592 | 0.993 | N | 0.719 | 0.226 | 0.158396225186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | 5276 |
Ig-36 |
16 | rs769246267 |
0.1947 | 0.592 | 0.993 | N | 0.719 | 0.226 | 0.158396225186 | gnomAD-4.0.0 | 2.47888E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39055E-06 | 0 | 0 |
| D/V | 5559 |
Ig-39 |
17 | rs1394384005 |
0.1487 | None | 0.966 | N | 0.463 | 0.237 | 0.488548280593 | gnomAD-4.0.0 | 6.37093E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.10926E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/A | 5838 |
Ig-42 |
16 | rs772883729 |
0.5062 | -0.359 | 1.0 | N | 0.763 | 0.523 | None | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88281E-05 | 0 | 0 | 0 | 0 |
| D/E | 5838 |
Ig-42 |
16 | None | 0.3831 | None | 1.0 | N | 0.407 | 0.223 | 0.165133752707 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/Y | 5934 |
Ig-43 |
16 | None | 0.3449 | None | 1.0 | N | 0.771 | 0.432 | 0.594113984522 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | 6307 |
Ig-47 |
16 | rs758691112 |
0.0802 | -0.426 | 0.012 | N | 0.209 | 0.092 | 0.0482279557977 | gnomAD-2.1.1 | 2.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.14268E-04 | None | 0 | None | 0 | 0 | 0 |
| S/T | 6307 |
Ig-47 |
16 | rs758691112 |
0.0802 | -0.426 | 0.012 | N | 0.209 | 0.092 | 0.0482279557977 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 6307 |
Ig-47 |
16 | rs758691112 |
0.0802 | -0.426 | 0.012 | N | 0.209 | 0.092 | 0.0482279557977 | gnomAD-4.0.0 | 2.58073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.8714E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | 6400 |
Ig-48 |
16 | rs753234087 |
0.2682 | -0.781 | 0.767 | N | 0.311 | 0.054 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| D/E | 6400 |
Ig-48 |
16 | rs753234087 |
0.2682 | -0.781 | 0.767 | N | 0.311 | 0.054 | 0.144782658237 | gnomAD-4.0.0 | 1.59866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43488E-05 | 0 |
| D/V | 6400 |
Ig-48 |
16 | None | 0.3449 | None | 0.999 | N | 0.77 | 0.571 | 0.481616744073 | 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/Y | 6400 |
Ig-48 |
16 | rs2079819482 |
0.2697 | None | 1.0 | N | 0.791 | 0.404 | 0.564094393547 | 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 |
| D/Y | 6400 |
Ig-48 |
16 | rs2079819482 |
0.2697 | None | 1.0 | N | 0.791 | 0.404 | 0.564094393547 | gnomAD-4.0.0 | 1.86303E-06 | None | None | None | None | N | None | 2.67144E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.49596E-07 | 0 | 0 |
| S/F | 6496 |
Ig-49 |
16 | rs376604816 |
0.206 | -1.158 | 0.949 | N | 0.467 | 0.509 | None | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 1.81E-05 | 0 |
| S/F | 6496 |
Ig-49 |
16 | rs376604816 |
0.206 | -1.158 | 0.949 | N | 0.467 | 0.509 | None | gnomAD-4.0.0 | 7.53771E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.0551E-05 | None | 0 | 0 | 8.10037E-06 | 0 | 0 |
| S/C | 6589 |
Ig-50 |
16 | rs1206769574 |
0.2076 | -0.79 | 0.999 | N | 0.345 | 0.332 | 0.321108458156 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/C | 6589 |
Ig-50 |
16 | rs1206769574 |
0.2076 | -0.79 | 0.999 | N | 0.345 | 0.332 | 0.321108458156 | gnomAD-4.0.0 | 6.84978E-07 | None | None | None | None | N | None | 2.99365E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | 6589 |
Ig-50 |
16 | None | 0.338 | None | 0.996 | N | 0.428 | 0.386 | 0.504907739247 | gnomAD-4.0.0 | 6.84978E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00182E-07 | 0 | 0 |
| D/E | 6683 |
Ig-51 |
17 | None | 0.1649 | None | 0.619 | N | 0.259 | 0.083 | 0.198526703765 | gnomAD-4.0.0 | 1.5972E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86847E-06 | 0 | 0 |
| A/T | 6776 |
Ig-52 |
16 | rs886055295 |
0.0633 | None | None | N | 0.12 | 0.11 | 0.0551355673512 | gnomAD-4.0.0 | 4.83792E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.53021E-06 | 0 | 3.34706E-05 |
| A/V | 6776 |
Ig-52 |
16 | rs200031306 |
0.1075 | -0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | gnomAD-2.1.1 | 1.67E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.65E-05 | 0 |
| A/V | 6776 |
Ig-52 |
16 | rs200031306 |
0.1075 | -0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | 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 |
| A/V | 6776 |
Ig-52 |
16 | rs200031306 |
0.1075 | -0.672 | None | N | 0.193 | 0.12 | 0.329540904979 | gnomAD-4.0.0 | 2.8147E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.84086E-05 | 0 | 0 |
| E/K | 6869 |
Ig-53 |
16 | rs746830456 |
0.0851 | 0.645 | 0.379 | N | 0.369 | 0.116 | 0.166414681773 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 1.68577E-04 |
| E/K | 6869 |
Ig-53 |
16 | rs746830456 |
0.0851 | 0.645 | 0.379 | N | 0.369 | 0.116 | 0.166414681773 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 6869 |
Ig-53 |
16 | rs746830456 |
0.0851 | 0.645 | 0.379 | N | 0.369 | 0.116 | 0.166414681773 | gnomAD-4.0.0 | 7.45328E-06 | None | None | None | None | I | None | 1.33804E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48915E-06 | 1.10725E-05 | 0 |
| E/Q | 6869 |
Ig-53 |
16 | rs746830456 |
0.0939 | None | 0.099 | N | 0.343 | 0.079 | 0.0846915920261 | gnomAD-4.0.0 | 6.85897E-07 | None | None | None | None | I | None | 3.00192E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 6963 |
Ig-54 |
16 | None | 0.2299 | None | 0.549 | N | 0.356 | 0.231 | 0.199424873507 | gnomAD-4.0.0 | 6.86362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02346E-07 | 0 | 0 |
| E/Q | 6963 |
Ig-54 |
16 | None | 0.178 | None | 0.712 | N | 0.411 | 0.215 | 0.130388298395 | gnomAD-4.0.0 | 6.86362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02346E-07 | 0 | 0 |
| A/T | 7059 |
Ig-55 |
16 | rs755126766 |
0.0616 | -0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | 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 |
| A/T | 7059 |
Ig-55 |
16 | rs755126766 |
0.0616 | -0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | 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 |
| A/T | 7059 |
Ig-55 |
16 | rs755126766 |
0.0616 | -0.428 | None | N | 0.102 | 0.064 | 0.0297737177859 | gnomAD-4.0.0 | 4.95901E-06 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93447E-06 | 0 | 0 |
| A/V | 7059 |
Ig-55 |
16 | rs2078912559 |
0.0994 | None | 0.012 | N | 0.311 | 0.127 | 0.28492961333 | gnomAD-4.0.0 | 6.36904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11056E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | 7245 |
Ig-57 |
16 | None | 0.2098 | None | 0.001 | N | 0.222 | 0.094 | 0.177238962908 | 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/N | 7338 |
Ig-58 |
16 | rs773799312 |
0.1034 | 0.118 | 0.801 | N | 0.397 | 0.146 | 0.128392430309 | gnomAD-2.1.1 | 2.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.37952E-04 | None | 0 | None | 0 | 0 | 0 |
| D/N | 7338 |
Ig-58 |
16 | rs773799312 |
0.1034 | 0.118 | 0.801 | N | 0.397 | 0.146 | 0.128392430309 | gnomAD-4.0.0 | 1.43404E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.50153E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | 7338 |
Ig-58 |
16 | rs770976572 |
0.2636 | 0.119 | 0.669 | N | 0.423 | 0.255 | 0.453588565359 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/V | 7338 |
Ig-58 |
16 | rs770976572 |
0.2636 | 0.119 | 0.669 | N | 0.423 | 0.255 | 0.453588565359 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 7624 |
Ig-61 |
17 | rs2078297140 |
0.1735 | None | 0.518 | N | 0.24 | 0.11 | 0.167679373172 | 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 | 7624 |
Ig-61 |
17 | rs2078297140 |
0.1735 | None | 0.518 | N | 0.24 | 0.11 | 0.167679373172 | gnomAD-4.0.0 | 2.57533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.821E-06 | 0 | 0 |
| D/G | 7810 |
Ig-63 |
16 | rs375392021 |
0.1395 | -0.193 | 0.324 | N | 0.365 | 0.187 | 0.110078149338 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/H | 7810 |
Ig-63 |
16 | rs2078129851 |
0.1974 | None | 0.773 | N | 0.331 | 0.252 | 0.163833314356 | gnomAD-4.0.0 | 3.18334E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71798E-06 | 0 | 0 |
| D/V | 7810 |
Ig-63 |
16 | rs375392021 |
0.1944 | 0.227 | 0.324 | N | 0.413 | 0.245 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 2.48221E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | 7810 |
Ig-63 |
16 | rs375392021 |
0.1944 | 0.227 | 0.324 | N | 0.413 | 0.245 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 1.6887E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | 7810 |
Ig-63 |
16 | rs375392021 |
0.1944 | 0.227 | 0.324 | N | 0.413 | 0.245 | None | gnomAD-4.0.0 | 9.13472E-06 | None | None | None | None | I | None | 1.57238E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | 7810 |
Ig-63 |
16 | None | 0.2137 | None | 0.912 | N | 0.371 | 0.265 | 0.423480098753 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | 7810 |
Ig-63 |
16 | None | 0.2137 | None | 0.912 | N | 0.371 | 0.265 | 0.423480098753 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 8000 |
Ig-65 |
16 | None | 0.2678 | None | 0.106 | N | 0.464 | 0.032 | 0.112648838833 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99531E-07 | 0 | 0 |
| A/S | 8000 |
Ig-65 |
16 | rs2077990712 |
0.0637 | None | None | N | 0.099 | 0.049 | 0.0401082797425 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99531E-07 | 0 | 0 |
| A/T | 8000 |
Ig-65 |
16 | None | 0.0607 | None | None | N | 0.15 | 0.025 | 0.0611884634855 | gnomAD-4.0.0 | 4.78977E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39719E-06 | 0 | 1.65656E-05 |
| M/T | 8093 |
Ig-66 |
16 | rs773993718 |
0.085 | 0.088 | None | N | 0.164 | 0.084 | 0.136095386433 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| M/T | 8093 |
Ig-66 |
16 | rs773993718 |
0.085 | 0.088 | None | N | 0.164 | 0.084 | 0.136095386433 | gnomAD-4.0.0 | 1.59434E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 0 | 0 | 0 |
| A/P | 8658 |
Ig-72 |
16 | rs1182186384 |
0.4949 | -0.579 | 0.427 | N | 0.478 | 0.086 | 0.12205267543 | 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 |
| A/P | 8658 |
Ig-72 |
16 | rs1182186384 |
0.4949 | -0.579 | 0.427 | N | 0.478 | 0.086 | 0.12205267543 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69873E-06 | 0 | 0 |
| A/V | 8658 |
Ig-72 |
16 | None | 0.0902 | None | 0.002 | N | 0.161 | 0.064 | 0.181679512989 | gnomAD-4.0.0 | 3.18338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71834E-06 | 0 | 0 |
| T/S | 9034 |
Ig-76 |
16 | rs2076876830 |
0.0849 | None | None | N | 0.123 | 0.05 | 0.0401082797425 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 9034 |
Ig-76 |
16 | rs2076876830 |
0.0849 | None | None | N | 0.123 | 0.05 | 0.0401082797425 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | 9220 |
Ig-78 |
16 | rs758435347 |
0.1038 | 0.432 | 0.991 | N | 0.456 | 0.236 | 0.151104730317 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/N | 9220 |
Ig-78 |
16 | rs758435347 |
0.1038 | 0.432 | 0.991 | N | 0.456 | 0.236 | 0.151104730317 | gnomAD-4.0.0 | 4.78952E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29641E-06 | 0 | 0 |
| D/V | 9220 |
Ig-78 |
16 | None | 0.2569 | None | 0.982 | N | 0.632 | 0.45 | 0.465721554213 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| L/P | 9316 |
Ig-79 |
16 | None | 0.7214 | None | 0.996 | N | 0.393 | 0.237 | 0.733431072442 | gnomAD-4.0.0 | 6.84352E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99622E-07 | 0 | 0 |
| L/R | 9316 |
Ig-79 |
16 | rs78643968 |
0.107 | 0.015 | 0.92 | N | 0.353 | 0.207 | None | gnomAD-2.1.1 | 1.35641E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.89452E-03 | None | 0 | None | 0 | 0 | 1.40489E-04 |
| L/R | 9316 |
Ig-79 |
16 | rs78643968 |
0.107 | 0.015 | 0.92 | N | 0.353 | 0.207 | None | gnomAD-3.1.2 | 3.28E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 9.61538E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | 9316 |
Ig-79 |
16 | rs78643968 |
0.107 | 0.015 | 0.92 | N | 0.353 | 0.207 | None | gnomAD-4.0.0 | 2.04514E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.90669E-04 | None | 0 | 0 | 0 | 0 | 3.20133E-05 |
| E/G | 9412 |
Ig-80 |
16 | rs766534072 |
0.1199 | -0.641 | 0.549 | None | 0.395 | 0.2 | 0.280181792013 | 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/G | 9412 |
Ig-80 |
16 | rs766534072 |
0.1199 | -0.641 | 0.549 | None | 0.395 | 0.2 | 0.280181792013 | gnomAD-4.0.0 | 1.36834E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99436E-07 | 1.15937E-05 | 0 |
| T/A | 9713 |
Ig-83 |
16 | rs763317642 |
0.1821 | None | 0.022 | None | 0.151 | 0.114 | 0.166414681773 | 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 |
| N/T | 9915 |
Ig-84 |
16 | None | 0.133 | None | 0.012 | None | 0.27 | 0.11 | 0.158396225186 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/P | 13702 |
Ig-87 |
19 | rs72650078 |
0.5141 | -0.375 | 0.999 | D | 0.647 | 0.463 | 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/P | 13702 |
Ig-87 |
19 | rs72650078 |
0.5141 | -0.375 | 0.999 | D | 0.647 | 0.463 | None |
Begay (2015)
Zuo (2021)
| None |
DCM
|
het | None | None | N | WGS prioritisation; filtering with ANNOVAR; co-segregates within 2-generation family (n = 2, 2 affected (total 3)); moderate destabilisation of domain (SM-AFM) | None | None | None | None | None | None | None | None | None | None | None |
| S/P | 13702 |
Ig-87 |
19 | rs72650078 |
0.5141 | -0.375 | 0.999 | D | 0.647 | 0.463 | None | gnomAD-4.0.0 | 6.40861E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19705E-05 | 0 | 0 |
| Q/R | 13796 |
Ig-88 |
17 | rs1165418882 |
0.4727 | 0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | 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 |
| Q/R | 13796 |
Ig-88 |
17 | rs1165418882 |
0.4727 | 0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | 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 |
| Q/R | 13796 |
Ig-88 |
17 | rs1165418882 |
0.4727 | 0.144 | 0.997 | N | 0.506 | 0.362 | 0.195762928549 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| G/A | 13889 |
Ig-89 |
14 | rs1029116705 |
0.3486 | None | None | N | 0.15 | 0.106 | 0.0846915920261 | gnomAD-4.0.0 | 3.45193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73913E-04 | 1.80995E-06 | 1.18881E-05 | 1.66856E-05 |
| G/E | 13889 |
Ig-89 |
14 | rs1029116705 |
0.7209 | -1.447 | 0.001 | N | 0.364 | 0.1 | 0.187945064343 | gnomAD-2.1.1 | 4.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.83E-06 | 0 |
| G/E | 13889 |
Ig-89 |
14 | rs1029116705 |
0.7209 | -1.447 | 0.001 | N | 0.364 | 0.1 | 0.187945064343 | gnomAD-4.0.0 | 6.90386E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04976E-07 | 0 | 0 |
| R/Q | 14069 |
Ig-91 |
16 | rs544852574 |
0.1362 | -0.088 | 0.985 | N | 0.419 | 0.267 | 0.146414634003 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/Q | 14069 |
Ig-91 |
16 | rs544852574 |
0.1362 | -0.088 | 0.985 | N | 0.419 | 0.267 | 0.146414634003 | 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 |
| R/Q | 14069 |
Ig-91 |
16 | rs544852574 |
0.1362 | -0.088 | 0.985 | N | 0.419 | 0.267 | 0.146414634003 | gnomAD-4.0.0 | 8.67833E-06 | None | None | None | None | N | None | 5.34316E-05 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 6.78251E-06 | 1.09827E-05 | 0 |
| E/G | 14157 |
Ig-92 |
16 | None | 0.1254 | None | None | N | 0.256 | 0.1 | 0.219573609325 | 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 |
| E/K | 14157 |
Ig-92 |
16 | rs1207534553 |
0.1267 | None | 0.001 | N | 0.155 | 0.105 | 0.0666544352282 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.027E-05 |
| D/E | 14246 |
Ig-93 |
16 | None | 0.2692 | None | 0.928 | N | 0.439 | 0.104 | 0.134241683229 | gnomAD-4.0.0 | 1.36946E-06 | None | None | None | None | N | None | 2.99115E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9993E-07 | 0 | 0 |
| E/D | 14334 |
Ig-94 |
16 | rs794729237 |
0.3991 | None | 0.997 | N | 0.558 | 0.22 | 0.213573922156 | gnomAD-4.0.0 | 3.42194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47464E-04 | 8.99651E-07 | 2.31938E-05 | 0 |
| E/Q | 14334 |
Ig-94 |
16 | rs776325338 |
0.3243 | -0.127 | 0.999 | N | 0.661 | 0.341 | 0.18995819373 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 1.40726E-04 |
| E/Q | 14334 |
Ig-94 |
16 | rs776325338 |
0.3243 | -0.127 | 0.999 | N | 0.661 | 0.341 | 0.18995819373 | 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 |
| E/Q | 14334 |
Ig-94 |
16 | rs776325338 |
0.3243 | -0.127 | 0.999 | N | 0.661 | 0.341 | 0.18995819373 | gnomAD-4.0.0 | 3.4713E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.66293E-05 | 0 | 1.60185E-05 |
| D/E | 14423 |
Ig-95 |
16 | None | 0.4913 | None | 1.0 | N | 0.449 | 0.379 | 0.413761986042 | gnomAD-4.0.0 | 6.00357E-06 | None | None | None | None | N | None | 6.33794E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25165E-06 | 0 | 0 |
| D/G | 14423 |
Ig-95 |
16 | rs1251576869 |
0.4452 | -0.767 | 1.0 | D | 0.72 | 0.581 | 0.584551062954 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| D/G | 14423 |
Ig-95 |
16 | rs1251576869 |
0.4452 | -0.767 | 1.0 | D | 0.72 | 0.581 | 0.584551062954 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85989E-06 | 0 | 0 |
| D/H | 14423 |
Ig-95 |
16 | rs960364848 |
0.8576 | -0.717 | 1.0 | D | 0.747 | 0.43 | 0.610363733556 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| D/H | 14423 |
Ig-95 |
16 | rs960364848 |
0.8576 | -0.717 | 1.0 | D | 0.747 | 0.43 | 0.610363733556 | gnomAD-4.0.0 | 1.59249E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8599E-06 | 0 | 0 |
| E/A | 14512 |
Ig-96 |
16 | None | 0.2924 | None | 0.999 | D | 0.659 | 0.675 | 0.742546504806 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/D | 14512 |
Ig-96 |
16 | rs776208084 |
0.2694 | -0.501 | 0.999 | D | 0.478 | 0.495 | 0.356281029322 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.51E-05 | None | 0 | 0 | 0 |
| E/D | 14512 |
Ig-96 |
16 | rs776208084 |
0.2694 | -0.501 | 0.999 | D | 0.478 | 0.495 | 0.356281029322 | gnomAD-4.0.0 | 1.61477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.47354E-05 | 0 |
| D/E | 14601 |
Ig-97 |
16 | rs748236664 |
0.1709 | -0.259 | 0.002 | N | 0.282 | 0.032 | 0.0482279557977 | 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 |
| D/E | 14601 |
Ig-97 |
16 | rs748236664 |
0.1709 | -0.259 | 0.002 | N | 0.282 | 0.032 | 0.0482279557977 | gnomAD-4.0.0 | 1.59455E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86149E-06 | 0 | 0 |
| E/G | 14690 |
Ig-98 |
16 | None | 0.4559 | None | 0.986 | N | 0.682 | 0.352 | 0.288352970974 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78164E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 14690 |
Ig-98 |
16 | None | 0.5318 | None | 0.952 | N | 0.585 | 0.331 | 0.21737058555 | gnomAD-4.0.0 | 1.59245E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86025E-06 | 0 | 0 |
| E/A | 14779 |
Ig-99 |
15 | None | 0.4366 | None | 0.999 | N | 0.642 | 0.483 | 0.319114376414 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| E/K | 14779 |
Ig-99 |
15 | rs1262894259 |
0.4143 | None | 0.999 | N | 0.612 | 0.435 | 0.24896430686 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 14779 |
Ig-99 |
15 | rs1262894259 |
0.4143 | None | 0.999 | N | 0.612 | 0.435 | 0.24896430686 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 6.54279E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | 14779 |
Ig-99 |
15 | rs1262894259 |
0.3168 | None | 1.0 | N | 0.653 | 0.294 | 0.148003135375 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79962E-06 | 0 | 0 |
| E/D | 14957 |
Ig-101 |
16 | rs1489415457 |
0.1688 | -0.689 | 0.946 | N | 0.432 | 0.185 | 0.313518423057 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | I | None | 0 | 2.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/D | 14957 |
Ig-101 |
16 | rs1489415457 |
0.1688 | -0.689 | 0.946 | N | 0.432 | 0.185 | 0.313518423057 | gnomAD-4.0.0 | 1.60617E-06 | None | None | None | None | I | None | 0 | 2.31342E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | 14957 |
Ig-101 |
16 | rs796961766 |
0.2677 | -0.967 | 0.811 | N | 0.49 | 0.18 | 0.283761946502 | gnomAD-2.1.1 | 8.28E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.82E-05 | 0 |
| E/G | 14957 |
Ig-101 |
16 | rs796961766 |
0.2677 | -0.967 | 0.811 | N | 0.49 | 0.18 | 0.283761946502 | gnomAD-4.0.0 | 2.95411E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60657E-05 | 0 | 4.99484E-05 |
| D/E | 15046 |
Ig-102 |
16 | None | 0.2477 | None | 0.117 | N | 0.315 | 0.197 | 0.26169431596 | 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 |
| D/G | 15046 |
Ig-102 |
16 | rs754204056 |
0.2517 | -0.847 | 0.977 | D | 0.675 | 0.64 | 0.507213507908 | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61746E-04 | None | 0 | 0 | 0 |
| D/G | 15046 |
Ig-102 |
16 | rs754204056 |
0.2517 | -0.847 | 0.977 | D | 0.675 | 0.64 | 0.507213507908 | gnomAD-4.0.0 | 1.43819E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32013E-04 | 1.65937E-05 |
| Q/E | 15223 |
Ig-104 |
16 | None | 0.0887 | None | 0.201 | N | 0.429 | 0.062 | 0.0986583533028 | gnomAD-4.0.0 | 6.84776E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73913E-04 | 0 | 0 | 0 |
| Q/H | 15223 |
Ig-104 |
16 | rs1261811728 |
0.4232 | -0.792 | 0.896 | N | 0.361 | 0.17 | 0.151104730317 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| Q/H | 15223 |
Ig-104 |
16 | rs1261811728 |
0.4232 | -0.792 | 0.896 | N | 0.361 | 0.17 | 0.151104730317 | gnomAD-4.0.0 | 6.84763E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87455E-05 | 0 | 0 | 0 | 0 |
| D/N | 15406 |
Ig-106 |
16 | rs2058075487 |
0.2558 | None | 0.989 | N | 0.443 | 0.446 | 0.447901950027 | gnomAD-4.0.0 | 2.8165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.75031E-06 | 0 | 1.71086E-05 |
| A/D | 15495 |
Ig-107 |
16 | rs376839162 |
0.2849 | -1.533 | 0.117 | N | 0.418 | 0.366 | 0.687600149419 | 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 |
| A/D | 15495 |
Ig-107 |
16 | rs376839162 |
0.2849 | -1.533 | 0.117 | N | 0.418 | 0.366 | 0.687600149419 | gnomAD-4.0.0 | 2.05469E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70027E-06 | 0 | 0 |
| A/T | 15495 |
Ig-107 |
16 | rs537428006 |
0.0784 | -1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-2.1.1 | 1.05152E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.52235E-04 | None | 0 | 0 | 0 |
| A/T | 15495 |
Ig-107 |
16 | rs537428006 |
0.0784 | -1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| A/T | 15495 |
Ig-107 |
16 | rs537428006 |
0.0784 | -1.17 | None | N | 0.121 | 0.167 | 0.212008924253 | gnomAD-4.0.0 | 5.335E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64908E-04 | 8.48245E-07 | 8.6838E-04 | 8.01616E-05 |
| K/N | 15583 |
Ig-108 |
16 | rs1460478978 |
0.384 | 0.207 | 0.22 | N | 0.419 | 0.115 | 0.0716867268079 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.60502E-04 | None | 0 | None | 0 | 0 | 0 |
| K/N | 15583 |
Ig-108 |
16 | rs1460478978 |
0.384 | 0.207 | 0.22 | N | 0.419 | 0.115 | 0.0716867268079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94856E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | 15583 |
Ig-108 |
16 | rs1460478978 |
0.384 | 0.207 | 0.22 | N | 0.419 | 0.115 | 0.0716867268079 | gnomAD-4.0.0 | 6.58302E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.94856E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 16274 |
Ig-110 |
13 | None | 0.1315 | None | 0.948 | N | 0.442 | 0.231 | 0.198526703765 | 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/N | 16274 |
Ig-110 |
13 | rs1576463553 |
0.1744 | None | 0.997 | N | 0.568 | 0.231 | 0.222439326576 | gnomAD-4.0.0 | 1.59486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03232E-05 |
| T/P | 16274 |
Ig-110 |
13 | rs564109979 |
0.9198 | -0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | 16274 |
Ig-110 |
13 | rs564109979 |
0.9198 | -0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | 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/P | 16274 |
Ig-110 |
13 | rs564109979 |
0.9198 | -0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/P | 16274 |
Ig-110 |
13 | rs564109979 |
0.9198 | -0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 16970 |
Ig-111 |
16 | rs1351961700 |
0.2294 | 0.049 | 0.955 | N | 0.459 | 0.259 | 0.208000267992 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/E | 17263 |
Ig-112 |
13 | rs768268605 |
0.1213 | None | None | N | 0.141 | 0.033 | 0.0716867268079 | gnomAD-4.0.0 | 6.84725E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99975E-07 | 0 | 0 |
| D/H | 17263 |
Ig-112 |
13 | None | 0.2589 | None | 0.427 | N | 0.421 | 0.083 | 0.170165803431 | gnomAD-4.0.0 | 9.60257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05E-05 | 0 | 0 |
| D/N | 17263 |
Ig-112 |
13 | None | 0.1079 | None | 0.001 | N | 0.325 | 0.078 | 0.136095386433 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| K/E | 17688 |
Ig-113 |
12 | rs201675016 |
0.1442 | 0.056 | None | N | 0.101 | 0.073 | None | gnomAD-4.0.0 | 9.23365E-04 | None | None | None | None | N | None | 0 | 4.57561E-05 | None | 0 | 2.77994E-05 | None | 9.57504E-03 | 0 | 8.29785E-05 | 0 | 1.36629E-03 |
| E/K | 17982 |
Ig-114 |
15 | rs1270287250 |
0.3632 | 0.114 | 0.885 | N | 0.381 | 0.198 | 0.260735089382 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | 17982 |
Ig-114 |
15 | rs1270287250 |
0.3632 | 0.114 | 0.885 | N | 0.381 | 0.198 | 0.260735089382 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 17982 |
Ig-114 |
15 | rs1270287250 |
0.3632 | 0.114 | 0.885 | N | 0.381 | 0.198 | 0.260735089382 | gnomAD-4.0.0 | 3.04585E-06 | None | None | None | None | N | None | 3.49846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2051E-06 | 0 | 0 |
| T/N | 18700 |
Ig-116 |
13 | None | 0.1136 | None | 0.996 | N | 0.365 | 0.183 | 0.192905019026 | gnomAD-4.0.0 | 6.8795E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.18413E-05 | 0 |
| T/S | 18700 |
Ig-116 |
13 | rs1265206285 |
0.0993 | -0.573 | 0.959 | N | 0.391 | 0.177 | 0.0716867268079 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| T/S | 18700 |
Ig-116 |
13 | rs1265206285 |
0.0993 | -0.573 | 0.959 | N | 0.391 | 0.177 | 0.0716867268079 | gnomAD-4.0.0 | 2.06385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80382E-06 | 0 | 1.66633E-05 |
| G/E | 19108 |
Ig-117 |
14 | rs774910035 |
0.5629 | -1.71 | 0.999 | N | 0.739 | 0.365 | 0.356484672536 | 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 |
| G/E | 19108 |
Ig-117 |
14 | rs774910035 |
0.5629 | -1.71 | 0.999 | N | 0.739 | 0.365 | 0.356484672536 | gnomAD-4.0.0 | 2.53246E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.23868E-05 | 1.15961E-05 | 0 |
| D/A | 19802 |
Ig-119 |
13 | rs747743986 |
0.286 | -0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 1.66334E-04 |
| D/A | 19802 |
Ig-119 |
13 | rs747743986 |
0.286 | -0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| D/A | 19802 |
Ig-119 |
13 | rs747743986 |
0.286 | -0.569 | 0.454 | N | 0.343 | 0.204 | 0.256283259241 | gnomAD-4.0.0 | 4.95857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.68707E-05 | 1.60133E-05 |
| D/N | 19802 |
Ig-119 |
13 | rs771426226 |
0.1332 | -0.447 | 0.012 | N | 0.287 | 0.133 | 0.112648838833 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/N | 19802 |
Ig-119 |
13 | rs771426226 |
0.1332 | -0.447 | 0.012 | N | 0.287 | 0.133 | 0.112648838833 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-06 | 0 | 0 |
| T/A | 20094 |
Ig-120 |
15 | None | 0.1073 | None | 0.489 | N | 0.443 | 0.168 | 0.183819452728 | gnomAD-4.0.0 | 2.07046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80729E-06 | 0 | 1.67073E-05 |
| T/S | 20094 |
Ig-120 |
15 | rs772591561 |
0.1073 | -0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-2.1.1 | 2.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.12663E-04 | None | 0 | None | 0 | 0 | 0 |
| T/S | 20094 |
Ig-120 |
15 | rs772591561 |
0.1073 | -0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | 20094 |
Ig-120 |
15 | rs772591561 |
0.1073 | -0.384 | 0.058 | N | 0.24 | 0.18 | 0.0716867268079 | gnomAD-4.0.0 | 5.62147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.78835E-04 | None | 0 | 0 | 0 | 0 | 1.61441E-05 |
| Q/K | 20492 |
Ig-121 |
14 | rs2154184267 |
0.1965 | None | 0.826 | N | 0.345 | 0.313 | 0.208000267992 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| Q/K | 20492 |
Ig-121 |
14 | rs2154184267 |
0.1965 | None | 0.826 | N | 0.345 | 0.313 | 0.208000267992 | gnomAD-4.0.0 | 3.15482E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.69607E-04 | 3.43116E-06 | 0 | 0 |
| D/E | 20785 |
Ig-122 |
17 | rs766020138 |
0.1445 | -0.531 | 0.001 | N | 0.157 | 0.069 | 0.0138822411134 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/E | 20785 |
Ig-122 |
17 | rs766020138 |
0.1445 | -0.531 | 0.001 | N | 0.157 | 0.069 | 0.0138822411134 | gnomAD-4.0.0 | 2.73738E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59826E-06 | 0 | 0 |
| D/Y | 20785 |
Ig-122 |
17 | None | 0.5559 | None | 0.957 | N | 0.573 | 0.345 | 0.446310458034 | gnomAD-4.0.0 | 6.8434E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99557E-07 | 0 | 0 |
| C/G | 21190 |
Ig-123 |
14 | rs779738957 |
0.3259 | -1.006 | 1.0 | N | 0.754 | 0.486 | 0.668689390126 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| C/G | 21190 |
Ig-123 |
14 | rs779738957 |
0.3259 | -1.006 | 1.0 | N | 0.754 | 0.486 | 0.668689390126 | gnomAD-4.0.0 | 3.18873E-06 | None | None | None | None | I | None | 0 | 2.29106E-05 | None | 0 | 0 | None | 0 | 0 | 2.86293E-06 | 0 | 0 |
| K/E | 21482 |
Ig-124 |
14 | rs113935908 |
0.2118 | None | 0.454 | N | 0.469 | 0.084 | 0.165133752707 | gnomAD-4.0.0 | 2.74144E-06 | None | None | None | None | N | None | 3.00788E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80082E-06 | 0 | 1.65948E-05 |
| K/N | 21482 |
Ig-124 |
14 | rs1232234781 |
0.4171 | -0.266 | 0.801 | N | 0.377 | 0.141 | 0.149567049428 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| K/N | 21482 |
Ig-124 |
14 | rs1232234781 |
0.4171 | -0.266 | 0.801 | N | 0.377 | 0.141 | 0.149567049428 | gnomAD-4.0.0 | 1.59755E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86783E-06 | 0 | 0 |
| V/A | 22277 |
Ig-126 |
13 | rs768860754 |
0.2606 | -1.226 | 0.63 | N | 0.454 | 0.134 | 0.367992661779 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| D/A | 22962 |
Ig-128 |
13 | None | 0.2343 | None | 0.124 | N | 0.526 | 0.216 | 0.224531998449 | gnomAD-4.0.0 | 1.61509E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90897E-06 | 0 | 0 |
| D/Y | 22962 |
Ig-128 |
13 | None | 0.38 | None | 0.859 | N | 0.597 | 0.353 | 0.455081427078 | gnomAD-4.0.0 | 6.88569E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0435E-07 | 0 | 0 |
| L/F | 23360 |
Ig-129 |
16 | None | 0.183 | None | 0.007 | N | 0.19 | 0.075 | 0.27855597813 | gnomAD-4.0.0 | 6.84307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09625E-06 | 0 | 1.65684E-05 |
| E/K | 24045 |
Ig-131 |
17 | rs1406753487 |
0.2075 | 0.307 | 0.892 | N | 0.497 | 0.274 | 0.288352970974 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| E/K | 24045 |
Ig-131 |
17 | rs1406753487 |
0.2075 | 0.307 | 0.892 | N | 0.497 | 0.274 | 0.288352970974 | gnomAD-4.0.0 | 2.73756E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31911E-05 | 3.31433E-05 |
| C/R | 24444 |
Ig-132 |
14 | None | 0.5272 | None | 0.521 | N | 0.553 | 0.288 | 0.541557034822 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-06 | 0 | 0 |
| C/S | 24444 |
Ig-132 |
14 | rs760672834 |
0.1397 | -0.801 | 0.034 | N | 0.147 | 0.245 | 0.278143212241 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| E/G | 24731 |
Ig-133 |
16 | rs76565211 |
0.2373 | -0.218 | 0.822 | N | 0.49 | 0.282 | None | gnomAD-4.0.0 | 3.18789E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.79435E-05 | 0 | 0 | 0 | 0 |
| E/K | 24731 |
Ig-133 |
16 | rs186780326 |
0.1788 | 0.903 | 0.822 | N | 0.436 | 0.311 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | 24731 |
Ig-133 |
16 | rs186780326 |
0.1788 | 0.903 | 0.822 | N | 0.436 | 0.311 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | 24731 |
Ig-133 |
16 | rs186780326 |
0.1788 | 0.903 | 0.822 | N | 0.436 | 0.311 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| E/K | 24731 |
Ig-133 |
16 | rs186780326 |
0.1788 | 0.903 | 0.822 | N | 0.436 | 0.311 | None | gnomAD-4.0.0 | 4.33916E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 8.94694E-05 | None | 0 | 0 | 0 | 0 | 4.80446E-05 |
| E/G | 25127 |
Ig-134 |
17 | rs768944134 |
0.1809 | -1.107 | 0.892 | N | 0.519 | 0.376 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | 25127 |
Ig-134 |
17 | rs768944134 |
0.1809 | -1.107 | 0.892 | N | 0.519 | 0.376 | 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 |
| E/G | 25127 |
Ig-134 |
17 | rs768944134 |
0.1809 | -1.107 | 0.892 | N | 0.519 | 0.376 | None | gnomAD-4.0.0 | 2.0301E-06 | None | None | None | None | N | None | 3.49565E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | 25526 |
Ig-135 |
13 | None | 0.0924 | None | 0.309 | N | 0.46 | 0.078 | 0.0954503805726 | gnomAD-4.0.0 | 6.8455E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52768E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | 25526 |
Ig-135 |
13 | rs369344156 |
0.4166 | -0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| G/D | 25526 |
Ig-135 |
13 | rs369344156 |
0.4166 | -0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/D | 25526 |
Ig-135 |
13 | rs369344156 |
0.4166 | -0.696 | 0.521 | N | 0.404 | 0.186 | None | gnomAD-4.0.0 | 1.92212E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28912E-05 | 0 | 6.41005E-05 |
| G/S | 25526 |
Ig-135 |
13 | rs1246585720 |
0.0837 | -0.686 | 0.078 | N | 0.231 | 0.13 | 0.0806252709748 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | 25526 |
Ig-135 |
13 | rs1246585720 |
0.0837 | -0.686 | 0.078 | N | 0.231 | 0.13 | 0.0806252709748 | gnomAD-4.0.0 | 1.59277E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43386E-05 | 0 |
| G/V | 25526 |
Ig-135 |
13 | None | 0.1545 | None | 0.884 | N | 0.455 | 0.277 | 0.526232973257 | gnomAD-4.0.0 | 6.8455E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16066E-05 | 0 |
| E/D | 26895 |
Ig-139 |
16 | None | 0.0967 | None | 0.981 | N | 0.421 | 0.249 | 0.296679040009 | gnomAD-4.0.0 | 2.05321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69876E-06 | 0 | 0 |
| E/K | 26895 |
Ig-139 |
16 | None | 0.1161 | None | 0.996 | N | 0.458 | 0.294 | 0.28492961333 | gnomAD-4.0.0 | 3.422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49797E-06 | 0 | 0 |
| E/G | 27291 |
Ig-140 |
14 | rs1197029579 |
0.2217 | None | 0.822 | N | 0.464 | 0.305 | 0.294206760003 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | 27291 |
Ig-140 |
14 | None | 0.1666 | None | 0.822 | N | 0.398 | 0.272 | 0.188950314367 | gnomAD-4.0.0 | 2.05333E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-06 | 1.15931E-05 | 0 |
| E/D | 28373 |
Ig-143 |
16 | rs770787056 |
0.1212 | -0.192 | 0.006 | N | 0.198 | 0.071 | 0.0401082797425 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.48E-05 | 0 |
| E/D | 28373 |
Ig-143 |
16 | rs770787056 |
0.1212 | -0.192 | 0.006 | N | 0.198 | 0.071 | 0.0401082797425 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/D | 28373 |
Ig-143 |
16 | rs770787056 |
0.1212 | -0.192 | 0.006 | N | 0.198 | 0.071 | 0.0401082797425 | gnomAD-4.0.0 | 1.7971E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28853E-05 | 1.09791E-05 | 1.60108E-05 |
| A/T | 28770 |
Ig-144 |
16 | rs752764932 |
0.0652 | -0.707 | None | N | 0.156 | 0.106 | 0.0138822411134 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/T | 28770 |
Ig-144 |
16 | rs752764932 |
0.0652 | -0.707 | None | N | 0.156 | 0.106 | 0.0138822411134 | gnomAD-4.0.0 | 3.19942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86033E-06 | 1.43567E-05 | 0 |
| T/I | 29456 |
Ig-146 |
13 | rs1468721085 |
0.2433 | -0.529 | 0.934 | N | 0.358 | 0.273 | 0.265929055128 | 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 | 29456 |
Ig-146 |
13 | rs1468721085 |
0.2433 | -0.529 | 0.934 | N | 0.358 | 0.273 | 0.265929055128 | gnomAD-4.0.0 | 1.85916E-06 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69523E-06 | 0 | 0 |
| T/R | 29456 |
Ig-146 |
13 | rs1468721085 |
0.223 | None | 0.966 | N | 0.378 | 0.375 | 0.284539287134 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79895E-06 | 0 | 0 |
| H/Q | 30147 |
Ig-148 |
16 | rs72648242 |
0.2149 | 0.526 | 0.062 | N | 0.129 | 0.071 | 0.117506650769 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | I | None | 0 | 1.16381E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | 30147 |
Ig-148 |
16 | rs72648242 |
0.2149 | 0.526 | 0.062 | N | 0.129 | 0.071 | 0.117506650769 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/Q | 30147 |
Ig-148 |
16 | rs72648242 |
0.2149 | 0.526 | 0.062 | N | 0.129 | 0.071 | 0.117506650769 | gnomAD-4.0.0 | 1.28951E-05 | None | None | None | None | I | None | 0 | 1.52864E-04 | None | 0 | 0 | None | 0 | 0 | 2.41611E-06 | 0 | 0 |
| H/Y | 30147 |
Ig-148 |
16 | None | 0.1789 | None | 0.012 | N | 0.177 | 0.132 | 0.137902524267 | gnomAD-4.0.0 | 1.60242E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88672E-06 | 0 | 0 |
| E/D | 30542 |
Ig-149 |
11 | rs761453557 |
0.0731 | None | 0.001 | N | 0.196 | 0.035 | 0.0482279557977 | gnomAD-4.0.0 | 6.84292E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99569E-07 | 0 | 0 |
| E/K | 30542 |
Ig-149 |
11 | rs1276009602 |
0.2751 | 0.405 | 0.201 | N | 0.403 | 0.258 | 0.282575091529 | 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 |
| E/K | 30542 |
Ig-149 |
11 | rs1276009602 |
0.2751 | 0.405 | 0.201 | N | 0.403 | 0.258 | 0.282575091529 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-06 | 0 | 0 |
| E/V | 30542 |
Ig-149 |
11 | None | 0.3072 | None | 0.638 | N | 0.584 | 0.4 | 0.542363599239 | 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 |
| A/D | 30941 |
Ig-150 |
15 | rs768960050 |
0.2855 | -0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/D | 30941 |
Ig-150 |
15 | rs768960050 |
0.2855 | -0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | 30941 |
Ig-150 |
15 | rs768960050 |
0.2855 | -0.497 | 0.317 | N | 0.413 | 0.174 | 0.32471235697 | gnomAD-4.0.0 | 3.72075E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08564E-06 | 0 | 0 |
| A/G | 30941 |
Ig-150 |
15 | None | 0.1089 | None | None | N | 0.197 | 0.076 | 0.104622674875 | gnomAD-4.0.0 | 6.84735E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| A/T | 30941 |
Ig-150 |
15 | rs777150584 |
0.0811 | -0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| A/T | 30941 |
Ig-150 |
15 | rs777150584 |
0.0811 | -0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | 30941 |
Ig-150 |
15 | rs777150584 |
0.0811 | -0.576 | 0.062 | N | 0.367 | 0.062 | 0.137902524267 | gnomAD-4.0.0 | 1.61232E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64474E-04 | 1.86472E-05 | 2.19558E-05 | 1.60123E-05 |
| S/N | 31231 |
Ig-151 |
14 | rs1060500565 |
0.1016 | None | 0.001 | N | 0.184 | 0.068 | 0.0482279557977 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| S/F | 31631 |
Ig-152 |
11 | rs765646839 |
0.3967 | -1.272 | 1.0 | N | 0.741 | 0.455 | 0.609617904835 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| S/F | 31631 |
Ig-152 |
11 | rs765646839 |
0.3967 | -1.272 | 1.0 | N | 0.741 | 0.455 | 0.609617904835 | gnomAD-4.0.0 | 3.18303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77562E-05 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| A/D | 32030 |
Ig-153 |
14 | rs781660295 |
0.3989 | None | 0.096 | N | 0.518 | 0.151 | 0.286465849087 | 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 |
| A/D | 32030 |
Ig-153 |
14 | rs781660295 |
0.3989 | None | 0.096 | N | 0.518 | 0.151 | 0.286465849087 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| A/V | 32030 |
Ig-153 |
14 | rs781660295 |
0.1636 | -0.55 | 0.001 | N | 0.171 | 0.123 | 0.202949470691 | 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 |
| A/V | 32030 |
Ig-153 |
14 | rs781660295 |
0.1636 | -0.55 | 0.001 | N | 0.171 | 0.123 | 0.202949470691 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | 32322 |
Ig-154 |
16 | rs1187427678 |
0.3268 | -0.107 | 0.549 | N | 0.475 | 0.126 | 0.18995819373 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| R/T | 32322 |
Ig-154 |
16 | rs1187427678 |
0.3268 | -0.107 | 0.549 | N | 0.475 | 0.126 | 0.18995819373 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/T | 32322 |
Ig-154 |
16 | rs1187427678 |
0.3268 | -0.107 | 0.549 | N | 0.475 | 0.126 | 0.18995819373 | gnomAD-4.0.0 | 4.33847E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93431E-06 | 0 | 0 |
| G/D | 32720 |
Ig-155 |
13 | None | 0.6334 | None | 1.0 | N | 0.776 | 0.429 | 0.148003135375 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/C | 33212 |
Ig-157 |
10 | None | 0.1866 | None | 0.997 | N | 0.365 | 0.333 | 0.354396617058 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/P | 33212 |
Ig-157 |
10 | rs1692192706 |
0.9426 | None | 0.969 | N | 0.369 | 0.291 | 0.218845423259 | 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/P | 33212 |
Ig-157 |
10 | rs1692192706 |
0.9426 | None | 0.969 | N | 0.369 | 0.291 | 0.218845423259 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| S/N | 33511 |
Ig-158 |
16 | None | 0.3089 | None | 0.219 | N | 0.516 | 0.21 | 0.289847578895 | 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 |
| S/R | 33511 |
Ig-158 |
16 | None | 0.9481 | None | 0.985 | N | 0.41 | 0.489 | 0.394837016283 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-06 | 0 | 0 |
| E/Q | 33611 |
Ig-159 |
16 | rs769704328 |
0.5072 | -0.271 | 0.992 | N | 0.593 | 0.255 | 0.231873229951 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| E/V | 33611 |
Ig-159 |
16 | rs2154136906 |
0.8651 | None | 0.994 | N | 0.707 | 0.447 | 0.303781844768 | gnomAD-4.0.0 | 1.59318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| G/E | 34151 |
Ig-160 |
15 | None | 0.1932 | None | 0.995 | N | 0.655 | 0.238 | 0.292062946507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | 34151 |
Ig-160 |
15 | rs191522469 |
0.2578 | -0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| G/R | 34151 |
Ig-160 |
15 | rs191522469 |
0.2578 | -0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.0289E-04 | 0 | 0 |
| G/R | 34151 |
Ig-160 |
15 | rs191522469 |
0.2578 | -0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/R | 34151 |
Ig-160 |
15 | rs191522469 |
0.2578 | -0.638 | 0.999 | N | 0.712 | 0.368 | 0.395441342475 | gnomAD-4.0.0 | 5.32871E-05 | None | None | None | None | N | None | 1.33316E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20428E-05 | 0 | 0 |
| Q/P | 34378 |
Ig-162 |
16 | rs779618819 |
0.9419 | 0.215 | 0.985 | D | 0.391 | 0.676 | 0.512825096792 | 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 |
| Q/P | 34378 |
Ig-162 |
16 | rs779618819 |
0.9419 | 0.215 | 0.985 | D | 0.391 | 0.676 | 0.512825096792 | gnomAD-4.0.0 | 6.36967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14452E-05 | 0 | 0 |
| Q/R | 34378 |
Ig-162 |
16 | rs779618819 |
0.2438 | 0.498 | 0.912 | N | 0.23 | 0.411 | 0.234412748748 | 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 |
| Q/R | 34378 |
Ig-162 |
16 | rs779618819 |
0.2438 | 0.498 | 0.912 | N | 0.23 | 0.411 | 0.234412748748 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8613E-06 | 0 | 0 |
| E/K | 35144 |
Ig-164 |
16 | rs568472002 |
0.2294 | 0.761 | 0.963 | N | 0.475 | 0.236 | 0.263612267334 | gnomAD-2.1.1 | 5.7E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 4.24809E-04 | None | 0 | 1.56E-05 | 0 |
| E/K | 35144 |
Ig-164 |
16 | rs568472002 |
0.2294 | 0.761 | 0.963 | N | 0.475 | 0.236 | 0.263612267334 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| E/K | 35144 |
Ig-164 |
16 | rs568472002 |
0.2294 | 0.761 | 0.963 | N | 0.475 | 0.236 | 0.263612267334 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| E/K | 35144 |
Ig-164 |
16 | rs568472002 |
0.2294 | 0.761 | 0.963 | N | 0.475 | 0.236 | 0.263612267334 | gnomAD-4.0.0 | 3.03598E-05 | None | None | None | None | N | None | 2.66581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78033E-06 | 4.17225E-04 | 1.60031E-05 |
| S/G | 35435 |
Ig-166 |
16 | rs1159073681 |
0.0814 | -0.871 | None | N | 0.119 | 0.076 | 0.0401082797425 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| S/G | 35435 |
Ig-166 |
16 | rs1159073681 |
0.0814 | -0.871 | None | N | 0.119 | 0.076 | 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 |
| S/I | 35435 |
Ig-166 |
16 | rs1423928961 |
0.1569 | None | 0.083 | N | 0.508 | 0.05 | 0.124217242631 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | 35435 |
Ig-166 |
16 | rs1423928961 |
0.1569 | None | 0.083 | N | 0.508 | 0.05 | 0.124217242631 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | 35435 |
Ig-166 |
16 | None | 0.1078 | None | None | N | 0.203 | 0.041 | 0.0138822411134 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| S/R | 35435 |
Ig-166 |
16 | rs1688529172 |
0.3501 | None | 0.153 | N | 0.449 | 0.091 | 0.0297737177859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | 35435 |
Ig-166 |
16 | rs1688529172 |
0.3501 | None | 0.153 | N | 0.449 | 0.091 | 0.0297737177859 | gnomAD-4.0.0 | 2.02978E-06 | None | None | None | None | N | None | 3.4943E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | 35435 |
Ig-166 |
16 | rs1423928961 |
0.082 | -0.317 | None | N | 0.119 | 0.032 | 0.0138822411134 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/T | 35435 |
Ig-166 |
16 | rs1423928961 |
0.082 | -0.317 | None | N | 0.119 | 0.032 | 0.0138822411134 | gnomAD-4.0.0 | 7.52637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89426E-06 | 0 | 0 |
| Q/E | 35622 |
Ig-167 |
16 | rs748846449 |
0.0719 | -0.489 | 0.992 | N | 0.393 | 0.246 | 0.162503812791 | 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 |
| Q/E | 35622 |
Ig-167 |
16 | rs748846449 |
0.0719 | -0.489 | 0.992 | N | 0.393 | 0.246 | 0.162503812791 | gnomAD-4.0.0 | 1.59089E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-06 | 0 | 0 |
| Q/L | 35717 |
Ig-168 |
16 | None | 0.4106 | None | 0.997 | N | 0.509 | 0.509 | 0.433823933641 | 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 |
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.