Structural position:

  • Domain Type: Ig
  • Aligned Position: 30
  • 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
F/V 25 Ig-1 20 None 0.7318 None 1.0 D 0.767 0.689 0.822178749166 gnomAD-4.0.0 2.40064E-06 None None None -0.667(TCAP) N None 0 0 None 0 0 None 0 0 0 6.07533E-05 3.66327E-05
L/F 123 Ig-2 20 rs890453511 0.5619 None 1.0 N 0.777 0.546 0.711221558017 gnomAD-4.0.0 2.05324E-06 None None None -0.484(TCAP) N None 0 0 None 0 0 None 0 0 2.69908E-06 0 0
L/W 962 Ig-3 20 None 0.9745 None 0.997 D 0.808 0.754 0.92973120882 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
F/S 1101 Ig-4 20 rs764124432 0.9986 -3.593 1.0 D 0.886 0.926 0.901273584984 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
F/S 1101 Ig-4 20 rs764124432 0.9986 -3.593 1.0 D 0.886 0.926 0.901273584984 gnomAD-4.0.0 1.59051E-06 None None None None N None 0 0 None 0 2.77377E-05 None 0 0 0 0 0
F/S 1476 Ig-6 20 None 0.9983 None 1.0 D 0.876 0.8 0.883368035574 gnomAD-4.0.0 1.59072E-06 None None None None N None 0 0 None 0 2.77377E-05 None 0 0 0 0 0
F/Y 1476 Ig-6 20 rs1480994603 0.8164 0.121 0.999 D 0.616 0.692 0.690180613628 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
F/Y 1476 Ig-6 20 rs1480994603 0.8164 0.121 0.999 D 0.616 0.692 0.690180613628 gnomAD-4.0.0 1.59072E-06 None None None None N None 0 0 None 0 2.77377E-05 None 0 0 0 0 0
M/I 1575 Ig-7 20 None 0.693 None 0.316 N 0.407 0.314 0.380901646489 gnomAD-4.0.0 1.5907E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85691E-06 0 0
F/L 2097 Ig-10 20 rs2092132864 0.9926 None 0.999 N 0.691 0.601 0.466230903105 gnomAD-4.0.0 1.36819E-06 None None None None N None 0 0 None 0 0 None 0 1.7337E-04 8.99302E-07 0 0
L/P 2375 Ig-13 20 rs954220478 0.9985 -1.623 1.0 D 0.897 0.873 0.923053473645 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 0
L/P 2375 Ig-13 20 rs954220478 0.9985 -1.623 1.0 D 0.897 0.873 0.923053473645 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
L/P 2375 Ig-13 20 rs954220478 0.9985 -1.623 1.0 D 0.897 0.873 0.923053473645 gnomAD-4.0.0 3.09795E-06 None None None None N None 1.33479E-05 0 None 0 0 None 0 0 3.38985E-06 0 0
L/V 2375 Ig-13 20 None 0.4133 None 0.996 D 0.66 0.543 0.700973683922 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
L/H 2464 Ig-14 20 None 0.9333 None 1.0 D 0.858 0.852 0.926469043632 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
F/L 2552 Ig-15 20 None 0.3902 None None N 0.291 0.171 0.0611884634855 gnomAD-4.0.0 1.59087E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85673E-06 0 0
F/S 2552 Ig-15 20 rs1308781409 0.9159 -3.233 0.667 D 0.852 0.815 0.848244197478 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
F/S 2552 Ig-15 20 rs1308781409 0.9159 -3.233 0.667 D 0.852 0.815 0.848244197478 gnomAD-4.0.0 1.59086E-06 None None None None N None 0 2.2876E-05 None 0 0 None 0 0 0 0 0
F/C 2639 Ig-16 19 rs794729580 0.9666 None 0.999 D 0.875 0.796 0.789584032943 gnomAD-4.0.0 2.05242E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69814E-06 0 0
F/S 2639 Ig-16 19 None 0.9939 None 0.984 D 0.833 0.827 0.805150415081 gnomAD-4.0.0 6.84139E-07 None None None None N None 0 0 None 0 2.52029E-05 None 0 0 0 0 0
F/L 2726 Ig-17 20 None 0.9671 None 0.999 N 0.682 0.731 0.473300991676 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
F/S 2988 Ig-20 20 None 0.9981 None 1.0 D 0.904 0.897 0.893135644064 gnomAD-4.0.0 2.05234E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79862E-06 0 1.6559E-05
F/C 3077 Ig-21 20 None 0.9979 None 1.0 D 0.889 0.916 0.887454508191 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
F/I 3258 Ig-23 20 None 0.8568 None 0.994 D 0.693 0.711 0.62097610211 gnomAD-4.0.0 1.59075E-06 None None None None N None 0 2.28666E-05 None 0 0 None 0 0 0 0 0
F/I 3484 Ig-25 20 rs1031005572 0.8742 -0.874 None None None 0.391 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
F/I 3484 Ig-25 20 rs1031005572 0.8742 -0.874 None None None 0.391 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
F/I 3484 Ig-25 20 rs1031005572 0.8742 -0.874 None None None 0.391 None gnomAD-4.0.0 6.57212E-06 None None None None N None 2.41371E-05 0 None 0 0 None 0 0 0 0 0
F/Y 3484 Ig-25 20 rs757971157 0.6992 -0.757 None None None 0.418 None 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
F/Y 3484 Ig-25 20 rs757971157 0.6992 -0.757 None None None 0.418 None gnomAD-4.0.0 3.18261E-06 None None None None N None 0 0 None 4.76599E-05 0 None 0 0 2.85861E-06 0 0
F/L 3957 Ig-28 20 None 0.9426 None 0.046 N 0.309 0.354 0.299086750705 gnomAD-4.0.0 3.18214E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71592E-06 0 0
F/C 4814 Ig-31 20 rs2081380830 0.9165 None 1.0 D 0.857 0.871 0.90976562344 gnomAD-4.0.0 1.36904E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79965E-06 0 0
F/S 4814 Ig-31 20 None 0.9851 None 0.999 D 0.809 0.865 0.903915487384 gnomAD-4.0.0 6.84519E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99823E-07 0 0
L/F 4907 Ig-32 20 None 0.1354 None 1.0 N 0.798 0.437 0.499793596984 gnomAD-4.0.0 6.84227E-07 None None None None N None 0 0 None 0 2.52207E-05 None 0 0 0 0 0
L/I 4907 Ig-32 20 rs2081327474 0.1221 None 0.999 D 0.591 0.48 0.498641525541 gnomAD-4.0.0 6.84227E-07 None None None None N None 0 0 None 0 2.52207E-05 None 0 0 0 0 0
L/P 4907 Ig-32 20 None 0.9843 None 1.0 D 0.905 0.842 0.907507965639 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
L/F 5001 Ig-33 21 None 0.1578 None 0.999 N 0.801 0.386 0.567678221081 gnomAD-4.0.0 4.78956E-06 None None None None N None 0 0 None 0 0 None 0 0 8.60072E-06 0 0
L/V 5001 Ig-33 21 rs774593495 0.2538 -1.294 0.992 D 0.701 0.54 0.68230992181 gnomAD-2.1.1 4.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.15E-06 0
L/F 5094 Ig-34 20 None 0.1948 None 1.0 D 0.781 0.47 0.772391555924 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
L/R 5094 Ig-34 20 None 0.966 None 1.0 D 0.903 0.877 0.922268766853 gnomAD-4.0.0 1.60397E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44953E-05 0
L/P 5187 Ig-35 20 None 0.9882 None 0.999 D 0.897 0.854 0.90282609855 gnomAD-4.0.0 6.84277E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9956E-07 0 0
L/Q 5187 Ig-35 20 None 0.8464 None 0.997 D 0.888 0.79 0.895693387583 gnomAD-4.0.0 6.84277E-07 None None None None N None 0 0 None 0 2.51978E-05 None 0 0 0 0 0
L/V 5280 Ig-36 20 rs879207679 0.1702 None 0.996 D 0.693 0.522 0.675152924593 gnomAD-4.0.0 1.59133E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85838E-06 0 0
L/M 5376 Ig-37 20 rs72648936 0.1055 -0.891 0.284 D 0.395 0.282 None gnomAD-2.1.1 5.01E-05 None None None None N None 8.27E-05 2.84E-05 None 0 0 None 0 None 8.03E-05 7.05E-05 0
L/M 5376 Ig-37 20 rs72648936 0.1055 -0.891 0.284 D 0.395 0.282 None gnomAD-3.1.2 7.55793E-04 None None None None N None 4.83E-05 0 1.11842E-01 0 0 None 9.42E-05 0 1.47007E-04 0 0
L/M 5376 Ig-37 20 rs72648936 0.1055 -0.891 0.284 D 0.395 0.282 None gnomAD-4.0.0 1.16544E-04 None None None None N None 2.66987E-05 1.6685E-05 None 0 2.23474E-05 None 4.68882E-05 0 6.5278E-05 0 3.20318E-05
L/P 5376 Ig-37 20 rs1560821110 0.9746 None 0.996 D 0.889 0.79 0.903425346708 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
L/P 5376 Ig-37 20 rs1560821110 0.9746 None 0.996 D 0.889 0.79 0.903425346708 gnomAD-4.0.0 6.57013E-06 None None None None N None 2.4115E-05 0 None 0 0 None 0 0 0 0 0
F/C 5749 Ig-41 20 None 0.9445 None 0.999 D 0.839 0.837 0.878891999469 gnomAD-4.0.0 1.59236E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85979E-06 0 0
F/L 5749 Ig-41 20 rs562519092 0.9091 -0.687 0.005 N 0.281 0.282 0.37953744168 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93125E-04 None 0 0 0 0 0
F/L 5749 Ig-41 20 rs562519092 0.9091 -0.687 0.005 N 0.281 0.282 0.37953744168 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
F/L 5749 Ig-41 20 rs562519092 0.9091 -0.687 0.005 N 0.281 0.282 0.37953744168 gnomAD-4.0.0 6.56797E-06 None None None None N None 0 0 None 0 1.93573E-04 None 0 0 0 0 0
L/F 5938 Ig-43 20 rs1217786152 0.3042 None 0.999 N 0.793 0.409 0.500050830518 gnomAD-4.0.0 1.20033E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
L/F 6031 Ig-44 20 rs775101958 0.0591 -1.647 0.001 N 0.278 0.215 0.432604763906 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 0 None 3.32E-05 None 0 0 0
L/F 6031 Ig-44 20 rs775101958 0.0591 -1.647 0.001 N 0.278 0.215 0.432604763906 gnomAD-4.0.0 1.59601E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4393E-05 0
L/I 6031 Ig-44 20 None 0.1402 None 0.201 D 0.624 0.209 0.486209434461 gnomAD-4.0.0 4.79587E-06 None None None None N None 0 0 None 0 0 None 0 0 6.30142E-06 0 0
F/L 6125 Ig-45 21 None 0.8183 None 0.999 N 0.699 0.493 0.264081493735 gnomAD-4.0.0 6.84338E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15945E-05 0
F/S 6125 Ig-45 21 rs375003845 0.9222 -2.898 1.0 D 0.862 0.872 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
F/S 6125 Ig-45 21 rs375003845 0.9222 -2.898 1.0 D 0.862 0.872 None gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
F/S 6125 Ig-45 21 rs375003845 0.9222 -2.898 1.0 D 0.862 0.872 None gnomAD-4.0.0 2.29329E-05 None None None None N None 4.00523E-05 0 None 0 0 None 0 0 2.88207E-05 0 0
L/R 6218 Ig-46 20 rs727505193 0.9528 -2.071 0.999 D 0.907 0.876 None gnomAD-2.1.1 1.43E-05 None None None None N None 1.65453E-04 0 None 0 0 None 0 None 0 0 0
L/R 6218 Ig-46 20 rs727505193 0.9528 -2.071 0.999 D 0.907 0.876 None gnomAD-3.1.2 4.6E-05 None None None None N None 1.44802E-04 6.56E-05 0 0 0 None 0 0 0 0 0
L/R 6218 Ig-46 20 rs727505193 0.9528 -2.071 0.999 D 0.907 0.876 None gnomAD-4.0.0 1.11563E-05 None None None None N None 2.1367E-04 1.66783E-05 None 0 0 None 0 0 0 0 1.60123E-05
L/S 6404 Ig-48 20 None 0.9657 None 0.999 D 0.867 0.819 0.917040579573 gnomAD-4.0.0 2.05425E-06 None None None None N None 0 0 None 0 0 None 0 0 2.7006E-06 0 0
M/V 6500 Ig-49 20 None 0.1761 None 0.007 N 0.389 0.32 0.42538462244 gnomAD-4.0.0 1.59478E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86192E-06 0 0
L/V 6687 Ig-51 21 rs2079507159 0.2023 None 0.977 D 0.689 0.626 0.524792858863 gnomAD-4.0.0 1.36953E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79988E-06 0 0
L/V 6967 Ig-54 20 None 0.2019 None 0.025 D 0.357 0.248 0.119812018005 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
F/Y 7156 Ig-56 20 None 0.5297 None 0.026 D 0.307 0.613 0.644949520829 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
L/V 7342 Ig-58 20 rs1243764269 0.1876 -0.962 0.992 D 0.687 0.564 0.622959606287 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 0 0
L/V 7342 Ig-58 20 rs1243764269 0.1876 -0.962 0.992 D 0.687 0.564 0.622959606287 gnomAD-4.0.0 4.77925E-06 None None None None N None 0 6.87096E-05 None 0 0 None 0 0 0 0 0
L/F 7438 Ig-59 20 rs371114946 0.0613 -1.634 0.002 N 0.297 0.321 None gnomAD-2.1.1 2.5E-05 None None None None N None 2.89424E-04 0 None 0 0 None 0 None 0 0 0
L/F 7438 Ig-59 20 rs371114946 0.0613 -1.634 0.002 N 0.297 0.321 None gnomAD-3.1.2 7.23E-05 None None None None N None 2.65457E-04 0 0 0 0 None 0 0 0 0 0
L/F 7438 Ig-59 20 rs371114946 0.0613 -1.634 0.002 N 0.297 0.321 None gnomAD-4.0.0 1.21799E-05 None None None None N None 2.0971E-04 0 None 0 0 None 0 0 0 0 0
F/C 7534 Ig-60 20 None 0.9787 None 1.0 D 0.853 0.731 0.880266280062 gnomAD-4.0.0 6.84951E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00127E-07 0 0
F/Y 7534 Ig-60 20 rs551521928 0.7759 -0.965 0.996 D 0.61 0.629 0.695696944214 gnomAD-2.1.1 8.49E-05 None None None None N None 0 0 None 0 0 None 6.9495E-04 None 0 0 0
F/Y 7534 Ig-60 20 rs551521928 0.7759 -0.965 0.996 D 0.61 0.629 0.695696944214 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 0 6.20347E-04 0
F/Y 7534 Ig-60 20 rs551521928 0.7759 -0.965 0.996 D 0.61 0.629 0.695696944214 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 0 0 None None None 2E-03 None
F/Y 7534 Ig-60 20 rs551521928 0.7759 -0.965 0.996 D 0.61 0.629 0.695696944214 gnomAD-4.0.0 2.29491E-05 None None None None N None 0 0 None 0 0 None 0 0 0 4.08001E-04 0
L/W 8004 Ig-65 20 rs1274821392 0.4278 -1.743 1.0 D 0.836 0.753 0.882730752339 gnomAD-2.1.1 2.01E-05 None None None None N None 0 1.44928E-04 None 0 0 None 0 None 0 0 0
L/W 8004 Ig-65 20 rs1274821392 0.4278 -1.743 1.0 D 0.836 0.753 0.882730752339 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.30959E-04 0 0 0 None 0 0 0 0 0
L/W 8004 Ig-65 20 rs1274821392 0.4278 -1.743 1.0 D 0.836 0.753 0.882730752339 gnomAD-4.0.0 8.96797E-06 None None None None N None 0 1.01685E-04 None 0 0 None 0 0 0 0 2.84446E-05
F/L 8097 Ig-66 20 rs762434465 0.8524 -0.555 0.989 N 0.667 0.484 0.539835882356 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
F/L 8097 Ig-66 20 rs762434465 0.8524 -0.555 0.989 N 0.667 0.484 0.539835882356 gnomAD-4.0.0 4.77797E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58035E-06 0 0
L/F 8283 Ig-68 20 rs1454021604 0.1026 None 0.429 D 0.333 0.465 0.328222422547 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
L/F 8283 Ig-68 20 rs1454021604 0.1026 None 0.429 D 0.333 0.465 0.328222422547 gnomAD-4.0.0 3.73346E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08646E-06 0 0
L/V 8283 Ig-68 20 rs1408912599 0.2984 None 0.959 D 0.663 0.64 0.738333703548 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
L/V 8283 Ig-68 20 rs1408912599 0.2984 None 0.959 D 0.663 0.64 0.738333703548 gnomAD-4.0.0 6.57151E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
F/S 8379 Ig-69 20 rs761873646 0.9892 -3.296 0.997 D 0.639 0.79 0.85668431153 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
F/I 8475 Ig-70 20 rs772111560 0.7258 None 0.088 N 0.561 0.401 0.286081765059 gnomAD-4.0.0 1.1633E-05 None None None None N None 0 0 None 0 0 None 0 0 1.34937E-05 0 3.31367E-05
L/R 8755 Ig-73 20 None 0.8308 None 0.99 D 0.819 0.761 0.89627696007 gnomAD-4.0.0 1.59232E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85969E-06 0 0
L/F 8849 Ig-74 20 None 0.1348 None 0.64 N 0.446 0.176 0.514866526686 gnomAD-4.0.0 1.20035E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31254E-06 0 0
L/W 8849 Ig-74 20 None 0.5144 None 1.0 D 0.867 0.764 0.893513305282 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
M/I 8945 Ig-75 20 rs778950787 0.5231 -0.47 0.047 N 0.451 0.204 0.404315859256 gnomAD-2.1.1 8.95E-06 None None None None N None 0 0 None 0 0 None 0 None 0 2.03E-05 0
M/I 8945 Ig-75 20 rs778950787 0.5231 -0.47 0.047 N 0.451 0.204 0.404315859256 gnomAD-4.0.0 1.62758E-06 None None None None N None 0 0 None 0 0 None 0 0 2.9217E-06 0 0
M/T 8945 Ig-75 20 None 0.767 None 0.351 N 0.617 0.476 0.830215370262 gnomAD-4.0.0 1.38266E-06 None None None None N None 0 0 None 0 0 None 0 0 9.06155E-07 0 1.66973E-05
M/V 8945 Ig-75 20 rs1300614225 0.2053 -0.985 0.047 N 0.434 0.209 0.412715890961 gnomAD-2.1.1 4.51E-06 None None None None N None 0 3.21E-05 None 0 0 None 0 None 0 0 0
M/V 8945 Ig-75 20 rs1300614225 0.2053 -0.985 0.047 N 0.434 0.209 0.412715890961 gnomAD-4.0.0 1.63025E-06 None None None None N None 0 2.4246E-05 None 0 0 None 0 0 0 0 0
F/V 9038 Ig-76 20 None 0.5593 None 0.248 D 0.559 0.687 0.79156486764 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
L/P 9224 Ig-78 20 None 0.9957 None 1.0 D 0.837 0.807 0.910524498493 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 0 None 0 0 None 0 2.41429E-04 0 0 0
F/S 9320 Ig-79 20 rs765897810 0.9813 -3.542 1.0 None 0.892 0.894 0.901043367394 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
F/S 9320 Ig-79 20 rs765897810 0.9813 -3.542 1.0 None 0.892 0.894 0.901043367394 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
F/S 9320 Ig-79 20 rs765897810 0.9813 -3.542 1.0 None 0.892 0.894 0.901043367394 gnomAD-4.0.0 5.12533E-06 None None None None N None 0 0 None 0 0 None 0 0 9.57336E-06 0 0
F/L 9416 Ig-80 20 None 0.8934 None None None 0.305 0.138 0.151104730317 gnomAD-4.0.0 6.84173E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99439E-07 0 0
F/S 9416 Ig-80 20 None 0.9801 None 0.211 None 0.8 0.712 0.82249240307 gnomAD-4.0.0 6.84174E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99442E-07 0 0
F/Y 9416 Ig-80 20 rs879120584 0.6096 -0.721 0.211 None 0.609 0.582 0.529311486226 gnomAD-2.1.1 7.14E-06 None None None None N None 0 0 None 0 0 None 0 None 0 7.81E-06 1.40371E-04
F/Y 9416 Ig-80 20 rs879120584 0.6096 -0.721 0.211 None 0.609 0.582 0.529311486226 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 6.55E-05 0 0 0 None 0 0 0 0 0
F/Y 9416 Ig-80 20 rs879120584 0.6096 -0.721 0.211 None 0.609 0.582 0.529311486226 gnomAD-4.0.0 6.19678E-06 None None None None N None 2.67008E-05 3.33433E-05 None 0 0 None 0 0 5.0855E-06 0 0
L/F 9513 Ig-81 21 rs143420988 0.4623 -1.227 0.151 None 0.372 0.23 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
L/F 9513 Ig-81 21 rs143420988 0.4623 -1.227 0.151 None 0.372 0.23 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
L/F 9513 Ig-81 21 rs143420988 0.4623 -1.227 0.151 None 0.372 0.23 None gnomAD-4.0.0 6.56616E-06 None None None None N None 2.40651E-05 0 None 0 0 None 0 0 0 0 0
F/S 9717 Ig-83 20 None 0.9994 None 1.0 None 0.881 0.764 0.904332106958 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
F/C 9919 Ig-84 20 None 0.9958 None 1.0 None 0.889 0.86 0.857050632475 gnomAD-4.0.0 6.8535E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99721E-07 0 0
F/L 9919 Ig-84 20 None 0.9947 None 0.999 None 0.657 0.551 0.591496729656 gnomAD-4.0.0 1.5976E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43501E-05 0
F/S 9919 Ig-84 20 None 0.9991 None 1.0 None 0.901 0.878 0.873855352421 gnomAD-4.0.0 6.8535E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99721E-07 0 0
M/R 10008 Ig-85 20 None 0.9577 None 0.784 None 0.633 0.597 0.712006405308 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
M/T 10008 Ig-85 20 None 0.9398 None 0.6 None 0.599 0.489 0.816296579346 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
M/V 10008 Ig-85 20 rs1553877757 0.2304 None 0.065 None 0.363 0.226 0.427024044652 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
M/V 10008 Ig-85 20 rs1553877757 0.2304 None 0.065 None 0.363 0.226 0.427024044652 gnomAD-4.0.0 3.04463E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61471E-06 0 0
F/S 10097 Ig-86 20 None 0.9998 None 0.999 None 0.867 0.878 0.869272637459 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
F/L 13706 Ig-87 23 rs748084644 0.9842 -1.259 0.999 N 0.657 0.58 0.482061804652 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
F/L 13706 Ig-87 23 rs748084644 0.9842 -1.259 0.999 N 0.657 0.58 0.482061804652 gnomAD-4.0.0 1.59207E-06 None None None None N None 0 2.28707E-05 None 0 0 None 0 0 0 0 0
L/S 13800 Ig-88 21 None 0.9962 None 0.998 D 0.888 0.482 0.705181888856 gnomAD-4.0.0 6.8496E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00174E-07 0 0
L/W 13800 Ig-88 21 rs2060414501 0.9634 None 1.0 D 0.839 0.455 0.700816104296 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
L/W 13800 Ig-88 21 rs2060414501 0.9634 None 1.0 D 0.839 0.455 0.700816104296 gnomAD-4.0.0 2.48176E-06 None None None None N None 1.33615E-05 0 None 0 0 None 1.56499E-05 0 1.6968E-06 0 0
F/L 14073 Ig-91 20 None 0.9612 None 0.999 N 0.654 0.544 0.438278051908 gnomAD-4.0.0 1.36878E-06 None None None None N None 0 0 None 0 0 None 0 0 1.7993E-06 0 0
F/S 14161 Ig-92 20 rs1270574681 0.9954 -3.577 1.0 D 0.897 0.884 0.899310573585 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 4.64E-05 0 0
F/S 14161 Ig-92 20 rs1270574681 0.9954 -3.577 1.0 D 0.897 0.884 0.899310573585 gnomAD-4.0.0 1.5922E-06 None None None None N None 0 0 None 0 0 None 1.88303E-05 0 0 0 0
F/S 14338 Ig-94 20 rs1277244282 0.9964 -3.634 0.999 D 0.881 0.494 0.59007929581 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
F/S 14338 Ig-94 20 rs1277244282 0.9964 -3.634 0.999 D 0.881 0.494 0.59007929581 gnomAD-4.0.0 1.59231E-06 None None None None N None 0 2.28728E-05 None 0 0 None 0 0 0 0 0
L/I 14605 Ig-97 20 rs1251970273 0.2136 -0.248 0.996 D 0.616 0.608 0.558147714631 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
L/I 14605 Ig-97 20 rs1251970273 0.2136 -0.248 0.996 D 0.616 0.608 0.558147714631 gnomAD-4.0.0 2.05409E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69921E-06 0 0
L/P 14605 Ig-97 20 None 0.9937 None 1.0 D 0.877 0.886 0.924476627806 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
F/L 14694 Ig-98 20 None 0.9891 None 0.997 N 0.595 0.508 0.144782658237 gnomAD-4.0.0 1.59233E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02682E-05
F/L 14783 Ig-99 19 None 0.9811 None 0.999 N 0.67 0.602 0.253726318573 gnomAD-4.0.0 6.84556E-07 None None None None N None 0 0 None 0 0 None 0 0 8.998E-07 0 0
L/M 14872 Ig-100 20 None 0.2898 None 0.983 D 0.699 0.454 0.487983534966 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
F/L 14961 Ig-101 20 None 0.965 None 0.046 N 0.319 0.238 0.231231049324 gnomAD-4.0.0 3.21237E-06 None None None None N None 0 0 None 4.82486E-05 0 None 0 0 0 0 3.0525E-05
F/S 14961 Ig-101 20 rs794729433 0.9968 None 0.991 D 0.851 0.863 0.889355318692 gnomAD-4.0.0 2.74784E-06 None None None None N None 0 0 None 0 0 None 0 0 3.60659E-06 0 0
F/L 15139 Ig-103 20 None 0.972 None 0.999 N 0.673 0.591 0.426318900417 gnomAD-4.0.0 1.59505E-06 None None None None N None 0 0 None 0 2.79392E-05 None 0 0 0 0 0
F/S 15139 Ig-103 20 rs1403204950 0.9988 None 1.0 D 0.892 0.771 None gnomAD-4.0.0 1.59503E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43476E-05 0
F/I 15321 Ig-105 20 None 0.7968 None 1.0 D 0.807 0.764 0.696206915315 gnomAD-4.0.0 4.11036E-06 None None None None N None 0 0 None 0 0 None 0 0 5.401E-06 0 0
F/L 15321 Ig-105 20 rs2058106190 0.9619 None 0.999 N 0.685 0.569 0.585140355757 gnomAD-4.0.0 6.8506E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00166E-07 0 0
F/S 15321 Ig-105 20 rs1344016534 0.9959 -2.71 1.0 D 0.903 0.859 0.880461734194 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
F/S 15321 Ig-105 20 rs1344016534 0.9959 -2.71 1.0 D 0.903 0.859 0.880461734194 gnomAD-4.0.0 1.37011E-06 None None None None N None 0 0 None 0 2.53177E-05 None 0 0 9.00156E-07 0 0
F/L 15410 Ig-106 20 rs1450114008 0.9774 None 0.014 N 0.337 0.382 0.388970301349 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.95E-05 0 0
F/L 15410 Ig-106 20 rs1450114008 0.9774 None 0.014 N 0.337 0.382 0.388970301349 gnomAD-4.0.0 1.31643E-05 None None None None N None 0 0 None 0 0 None 0 0 2.94516E-05 0 0
F/V 15499 Ig-107 20 None 0.9353 None 0.978 D 0.715 0.751 0.896460130579 gnomAD-4.0.0 1.5945E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86449E-06 0 0
M/I 15587 Ig-108 20 rs776451592 0.55 -0.37 0.985 N 0.685 0.357 0.584797538282 gnomAD-2.1.1 8.1E-06 None None None None N None 0 5.83E-05 None 0 0 None 0 None 0 0 0
M/I 15587 Ig-108 20 rs776451592 0.55 -0.37 0.985 N 0.685 0.357 0.584797538282 gnomAD-3.1.2 6.58E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
M/I 15587 Ig-108 20 rs776451592 0.55 -0.37 0.985 N 0.685 0.357 0.584797538282 gnomAD-4.0.0 1.24127E-06 None None None None N None 2.67508E-05 0 None 0 0 None 0 0 0 0 0
M/T 15587 Ig-108 20 None 0.8916 None 0.994 N 0.748 0.622 0.852084556051 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
M/V 15587 Ig-108 20 rs761595575 0.1478 -0.86 0.985 N 0.617 0.378 0.581977844477 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
M/V 15587 Ig-108 20 rs761595575 0.1478 -0.86 0.985 N 0.617 0.378 0.581977844477 gnomAD-4.0.0 3.42613E-06 None None None None N None 0 0 None 0 0 None 0 0 3.60085E-06 1.16098E-05 0
I/L 16974 Ig-111 20 rs768142416 0.1183 -0.621 0.031 N 0.241 0.123 0.289474373501 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
I/L 16974 Ig-111 20 rs768142416 0.1183 -0.621 0.031 N 0.241 0.123 0.289474373501 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
I/L 16974 Ig-111 20 rs768142416 0.1183 -0.621 0.031 N 0.241 0.123 0.289474373501 gnomAD-4.0.0 3.10063E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.49233E-05 0
I/V 16974 Ig-111 20 rs768142416 0.1342 -1.149 0.689 N 0.377 0.153 0.57026793815 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 1.99203E-04 0 None 0 None 0 8.92E-06 0
I/V 16974 Ig-111 20 rs768142416 0.1342 -1.149 0.689 N 0.377 0.153 0.57026793815 gnomAD-4.0.0 6.16198E-06 None None None None N None 0 0 None 2.29797E-04 0 None 0 0 1.79967E-06 0 1.65854E-05
L/F 17267 Ig-112 17 rs758364988 0.5349 -1.678 1.0 D 0.803 0.342 0.606442066225 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.71E-05 None 0 0 None 0 None 0 0 0
L/F 17267 Ig-112 17 rs758364988 0.5349 -1.678 1.0 D 0.803 0.342 0.606442066225 gnomAD-4.0.0 4.78184E-06 None None None None N None 0 6.86405E-05 None 0 0 None 0 0 0 0 0
I/V 17692 Ig-113 16 rs753698005 0.3558 -0.988 0.103 N 0.261 0.126 0.455357065977 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
I/T 17986 Ig-114 19 rs1200347706 0.981 -2.827 0.722 D 0.763 0.538 0.735826198445 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14863E-04 0 None 0 0 None 0 None 0 0 0
I/T 17986 Ig-114 19 rs1200347706 0.981 -2.827 0.722 D 0.763 0.538 0.735826198445 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
I/T 17986 Ig-114 19 rs1200347706 0.981 -2.827 0.722 D 0.763 0.538 0.735826198445 gnomAD-4.0.0 6.58597E-06 None None None None N None 2.41686E-05 0 None 0 0 None 0 0 0 0 0
I/V 17986 Ig-114 19 rs1293207173 0.1829 None 0.19 N 0.345 0.186 0.59827724986 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
I/V 17986 Ig-114 19 rs1293207173 0.1829 None 0.19 N 0.345 0.186 0.59827724986 gnomAD-4.0.0 6.58345E-06 None None None None N None 0 6.56685E-05 None 0 0 None 0 0 0 0 0
I/L 18704 Ig-116 17 rs2052786840 0.2 None 0.889 N 0.367 0.263 0.462982567029 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/L 18704 Ig-116 17 rs2052786840 0.2 None 0.889 N 0.367 0.263 0.462982567029 gnomAD-4.0.0 6.57644E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47128E-05 0 0
I/T 18704 Ig-116 17 rs2052786313 0.8749 None 0.994 N 0.749 0.591 0.755402541478 gnomAD-4.0.0 1.59836E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.44479E-05 0
I/V 18704 Ig-116 17 None 0.125 None 0.889 N 0.371 0.294 0.663861624897 gnomAD-4.0.0 3.19731E-06 None None None None N None 0 0 None 4.78149E-05 2.78909E-05 None 0 0 0 0 0
I/T 19112 Ig-117 18 None 0.9904 None 1.0 D 0.828 0.584 0.865381639045 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
L/F 19406 Ig-118 16 None 0.4299 None 0.982 N 0.699 0.314 0.627153701111 gnomAD-4.0.0 1.59225E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43312E-05 0
F/S 20098 Ig-120 19 None 0.9929 None 0.784 D 0.716 0.679 0.727926503626 gnomAD-4.0.0 2.75181E-06 None None None None N None 0 0 None 0 2.52398E-05 None 0 0 2.7068E-06 0 0
I/F 20496 Ig-121 18 None 0.5668 None 0.989 N 0.692 0.305 0.554801812059 gnomAD-4.0.0 1.65244E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.54059E-05 0
I/M 20496 Ig-121 18 rs886042497 0.325 None 0.989 N 0.657 0.288 0.606648057779 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/M 20496 Ig-121 18 rs886042497 0.325 None 0.989 N 0.657 0.288 0.606648057779 gnomAD-4.0.0 7.54018E-06 None None None None N None 0 3.45686E-05 None 0 0 None 0 0 8.55445E-06 0 0
L/P 20789 Ig-122 21 rs750434015 0.99 -1.387 0.028 D 0.686 0.715 None gnomAD-2.1.1 1.07E-05 None None None None N None 1.24069E-04 0 None 0 0 None 0 None 0 0 0
L/P 20789 Ig-122 21 rs750434015 0.99 -1.387 0.028 D 0.686 0.715 None gnomAD-3.1.2 2.63E-05 None None None None N None 9.66E-05 0 0 0 0 None 0 0 0 0 0
L/P 20789 Ig-122 21 rs750434015 0.99 -1.387 0.028 D 0.686 0.715 None gnomAD-4.0.0 3.71921E-06 None None None None N None 8.01368E-05 0 None 0 0 None 0 0 0 0 0
L/P 21194 Ig-123 18 rs367838375 0.9922 -1.82 1.0 D 0.865 0.829 None gnomAD-2.1.1 4.66E-05 None None None None I None 0 0 None 0 0 None 0 None 0 1.01998E-04 0
L/P 21194 Ig-123 18 rs367838375 0.9922 -1.82 1.0 D 0.865 0.829 None gnomAD-3.1.2 5.92E-05 None None None None I None 0 0 0 0 0 None 0 0 1.32411E-04 0 0
L/P 21194 Ig-123 18 rs367838375 0.9922 -1.82 1.0 D 0.865 0.829 None gnomAD-4.0.0 1.61219E-05 None None None None I None 0 0 None 0 0 None 0 0 2.20464E-05 0 0
L/V 21194 Ig-123 18 None 0.3358 None 0.999 D 0.629 0.589 0.773388115084 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
I/F 21486 Ig-124 18 rs779988742 0.4341 -1.39 0.317 N 0.653 0.18 0.245660935333 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.93E-06 0
I/F 21486 Ig-124 18 rs779988742 0.4341 -1.39 0.317 N 0.653 0.18 0.245660935333 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/F 21486 Ig-124 18 rs779988742 0.4341 -1.39 0.317 N 0.653 0.18 0.245660935333 gnomAD-4.0.0 4.96352E-06 None None None None I None 0 0 None 0 0 None 0 0 5.9376E-06 0 1.60287E-05
I/N 21486 Ig-124 18 None 0.9723 None None N 0.592 0.413 0.670625927506 gnomAD-4.0.0 4.79534E-06 None None None None I None 0 0 None 0 0 None 0 0 6.30092E-06 0 0
I/T 21486 Ig-124 18 None 0.6907 None 0.062 N 0.675 0.395 0.541330971987 gnomAD-4.0.0 6.85048E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00132E-07 0 0
L/F 21883 Ig-125 18 rs374736305 0.3344 -1.539 0.999 N 0.816 0.241 0.644691464373 gnomAD-2.1.1 9.35E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.05219E-04 0
L/F 21883 Ig-125 18 rs374736305 0.3344 -1.539 0.999 N 0.816 0.241 0.644691464373 gnomAD-3.1.2 3.95E-05 None None None None N None 0 0 0 0 0 None 9.42E-05 0 7.36E-05 0 0
L/F 21883 Ig-125 18 rs374736305 0.3344 -1.539 0.999 N 0.816 0.241 0.644691464373 gnomAD-4.0.0 7.38114E-05 None None None None N None 0 0 None 0 0 None 4.69102E-05 0 9.24495E-05 0 1.12205E-04
L/V 21883 Ig-125 18 rs754416903 0.2544 -1.008 0.981 D 0.678 0.49 0.624128296751 gnomAD-2.1.1 4.05E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
L/V 21883 Ig-125 18 rs754416903 0.2544 -1.008 0.981 D 0.678 0.49 0.624128296751 gnomAD-4.0.0 1.36958E-06 None None None None N None 2.99258E-05 0 None 0 0 None 0 0 0 0 1.65843E-05
L/F 22570 Ig-127 11 rs1198941645 0.433 -1.243 0.982 D 0.713 0.326 0.552326942858 gnomAD-2.1.1 3.19E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.48E-05 0
L/F 22570 Ig-127 11 rs1198941645 0.433 -1.243 0.982 D 0.713 0.326 0.552326942858 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/F 22570 Ig-127 11 rs1198941645 0.433 -1.243 0.982 D 0.713 0.326 0.552326942858 gnomAD-4.0.0 6.57756E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47124E-05 0 0
L/V 22570 Ig-127 11 rs1198941645 0.1648 None 0.76 D 0.592 0.428 0.535102873643 gnomAD-2.1.1 4.06E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.93E-06 0
L/V 22570 Ig-127 11 rs1198941645 0.1648 None 0.76 D 0.592 0.428 0.535102873643 gnomAD-4.0.0 1.60501E-06 None None None None I None 0 0 None 0 0 None 0 0 2.88218E-06 0 0
I/L 23364 Ig-129 20 rs1709965793 0.1511 None 0.061 N 0.292 0.132 0.330331372229 gnomAD-4.0.0 2.05294E-06 None None None None N None 0 0 None 0 5.04134E-05 None 0 0 8.99578E-07 0 0
V/A 23653 Ig-130 17 None 0.4263 None 0.977 N 0.668 0.445 0.605774515499 gnomAD-4.0.0 1.59373E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86144E-06 0 0
L/P 24049 Ig-131 21 rs56399205 0.9906 -0.764 1.0 D 0.853 0.863 None gnomAD-2.1.1 5.50799E-04 None None None None N None 1.24059E-04 2.54929E-04 None 0 0 None 3.27E-05 None 1.59962E-04 1.02534E-03 8.44832E-04
L/P 24049 Ig-131 21 rs56399205 0.9906 -0.764 1.0 D 0.853 0.863 None gnomAD-3.1.2 6.90317E-04 None None None None N None 1.20656E-04 7.2065E-04 0 0 0 None 9.41E-05 0 1.27964E-03 0 4.78011E-04
L/P 24049 Ig-131 21 rs56399205 0.9906 -0.764 1.0 D 0.853 0.863 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
L/P 24049 Ig-131 21 rs56399205 0.9906 -0.764 1.0 D 0.853 0.863 None gnomAD-4.0.0 1.15904E-03 None None None None N None 1.33301E-04 4.16764E-04 None 0 0 None 1.24977E-04 0 1.49033E-03 3.29446E-05 1.05661E-03
L/H 24448 Ig-132 18 None 0.9949 None 0.999 D 0.815 0.747 0.932804463114 gnomAD-4.0.0 3.42162E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49795E-06 0 0
L/V 24448 Ig-132 18 rs1400578707 0.3108 -1.219 0.618 D 0.692 0.508 0.541105671861 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 6.51042E-04 None 0 None 0 0 0
L/V 24448 Ig-132 18 rs1400578707 0.3108 -1.219 0.618 D 0.692 0.508 0.541105671861 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93949E-04 None 0 0 0 0 0
L/V 24448 Ig-132 18 rs1400578707 0.3108 -1.219 0.618 D 0.692 0.508 0.541105671861 gnomAD-4.0.0 3.84493E-06 None None None None N None 0 0 None 0 7.28686E-05 None 0 0 0 0 0
V/A 24735 Ig-133 20 rs993249767 0.5065 None 0.104 N 0.629 0.331 0.459192005304 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93498E-04 None 0 0 0 0 0
V/A 24735 Ig-133 20 rs993249767 0.5065 None 0.104 N 0.629 0.331 0.459192005304 gnomAD-4.0.0 1.23985E-06 None None None None N None 0 0 None 0 4.47167E-05 None 0 0 0 0 0
V/F 25131 Ig-134 21 None 0.2234 None 0.055 N 0.626 0.206 0.154104182512 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79915E-06 0 0
L/F 25530 Ig-135 17 rs184034300 0.531 -1.382 1.0 D 0.767 0.294 0.417208245017 gnomAD-2.1.1 1.79143E-04 None None None None I None 8.28E-05 0 None 0 0 None 0 None 1.32254E-03 7.84E-05 7.07014E-04
L/F 25530 Ig-135 17 rs184034300 0.531 -1.382 1.0 D 0.767 0.294 0.417208245017 gnomAD-3.1.2 1.38167E-04 None None None None I None 4.83E-05 0 0 0 0 None 1.41323E-03 0 5.89E-05 0 0
L/F 25530 Ig-135 17 rs184034300 0.531 -1.382 1.0 D 0.767 0.294 0.417208245017 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
L/F 25530 Ig-135 17 rs184034300 0.531 -1.382 1.0 D 0.767 0.294 0.417208245017 gnomAD-4.0.0 6.84613E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99719E-07 0 0
L/S 25530 Ig-135 17 rs1465564864 0.9936 -2.844 1.0 D 0.843 0.766 0.905017681694 gnomAD-2.1.1 4.04E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
L/S 25530 Ig-135 17 rs1465564864 0.9936 -2.844 1.0 D 0.843 0.766 0.905017681694 gnomAD-3.1.2 6.58E-06 None None None None I None 0 6.56E-05 0 0 0 None 0 0 0 0 0
L/S 25530 Ig-135 17 rs1465564864 0.9936 -2.844 1.0 D 0.843 0.766 0.905017681694 gnomAD-4.0.0 1.86024E-06 None None None None I None 0 3.34169E-05 None 3.38203E-05 0 None 0 0 0 0 0
I/T 25817 Ig-136 20 rs770455270 0.5982 -2.308 0.549 D 0.701 0.542 0.624741333878 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.58E-05 0
I/T 25817 Ig-136 20 rs770455270 0.5982 -2.308 0.549 D 0.701 0.542 0.624741333878 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/T 25817 Ig-136 20 rs770455270 0.5982 -2.308 0.549 D 0.701 0.542 0.624741333878 gnomAD-4.0.0 6.40999E-06 None None None None N None 0 0 None 0 0 None 0 0 1.19714E-05 0 0
L/F 26213 Ig-137 21 rs1553594441 0.5549 None 0.999 N 0.781 0.373 0.68219128047 gnomAD-4.0.0 6.84532E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99692E-06 0 0
L/P 26213 Ig-137 21 rs2154166338 0.993 None 1.0 D 0.859 0.856 0.910442507312 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93424E-04 None 0 0 0 0 0
L/P 26213 Ig-137 21 rs2154166338 0.993 None 1.0 D 0.859 0.856 0.910442507312 gnomAD-4.0.0 2.56412E-06 None None None None N None 0 0 None 0 4.86003E-05 None 0 0 0 0 0
I/V 26612 Ig-138 19 None 0.2692 None 0.426 N 0.448 0.227 0.596036732933 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
I/R 26899 Ig-139 20 None 0.9453 None 0.971 D 0.832 0.717 0.831722884016 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
L/V 27295 Ig-140 18 None 0.1474 None 0.9 D 0.474 0.484 0.660250038783 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
L/I 27695 Ig-141 20 None 0.2294 None 0.999 D 0.585 0.452 0.468253365638 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
L/S 27695 Ig-141 20 rs772893209 0.9968 -2.499 1.0 D 0.859 0.833 0.888304868143 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
L/S 27695 Ig-141 20 rs772893209 0.9968 -2.499 1.0 D 0.859 0.833 0.888304868143 gnomAD-4.0.0 5.47399E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19625E-06 0 0
I/T 27982 Ig-142 20 rs773976497 0.6476 None 0.722 N 0.753 0.556 0.59698544216 gnomAD-4.0.0 2.73825E-06 None None None None N None 0 2.24155E-05 None 0 0 None 0 1.73551E-04 0 0 3.31543E-05
I/T 28377 Ig-143 20 rs876658089 0.9842 -2.743 0.684 D 0.731 0.528 0.758086412925 gnomAD-2.1.1 7.15E-06 None None None None N None 0 0 None 0 1.02491E-04 None 0 None 0 0 0
I/T 28377 Ig-143 20 rs876658089 0.9842 -2.743 0.684 D 0.731 0.528 0.758086412925 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85802E-04 None 0 0 0 0 0
I/T 28377 Ig-143 20 rs876658089 0.9842 -2.743 0.684 D 0.731 0.528 0.758086412925 gnomAD-4.0.0 5.12418E-06 None None None None N None 0 0 None 0 7.27308E-05 None 0 0 0 0 2.84414E-05
M/I 28774 Ig-144 20 None 0.4412 None 0.002 N 0.332 0.136 0.326616659874 gnomAD-4.0.0 1.37197E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99944E-07 1.16355E-05 0
M/T 28774 Ig-144 20 rs766812574 0.8806 -1.359 0.213 N 0.6 0.421 None gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
M/T 28774 Ig-144 20 rs766812574 0.8806 -1.359 0.213 N 0.6 0.421 None gnomAD-4.0.0 4.80091E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58615E-06 0 0
M/V 28774 Ig-144 20 None 0.1192 None 0.017 N 0.415 0.125 0.377799810692 gnomAD-4.0.0 1.37168E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99826E-07 1.16244E-05 0
V/A 29064 Ig-145 20 None 0.2586 None 0.826 N 0.627 0.31 0.492336895404 gnomAD-4.0.0 2.73691E-06 None None None None N None 2.98704E-05 0 None 0 0 None 0 0 1.79888E-06 1.15942E-05 0
V/I 29064 Ig-145 20 rs1233850583 0.0853 -0.188 0.134 N 0.298 0.145 0.346768085243 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.97E-05 0 None 0 None 0 0 0
V/I 29064 Ig-145 20 rs1233850583 0.0853 -0.188 0.134 N 0.298 0.145 0.346768085243 gnomAD-4.0.0 1.59142E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02371E-05
L/I 29460 Ig-146 17 None 0.1319 None 0.884 D 0.345 0.329 0.624915994163 gnomAD-4.0.0 1.59119E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85793E-06 0 0
L/P 29460 Ig-146 17 rs1273946474 0.992 None 1.0 D 0.893 0.881 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
L/P 29460 Ig-146 17 rs1273946474 0.992 None 1.0 D 0.893 0.881 None gnomAD-4.0.0 6.57134E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
V/L 29859 Ig-147 18 rs774284668 0.1264 -0.013 None N 0.316 0.096 0.139678290688 gnomAD-2.1.1 1.82E-05 None None None None N None 1.65385E-04 0 None 0 5.13E-05 None 0 None 0 0 0
V/L 29859 Ig-147 18 rs774284668 0.1264 -0.013 None N 0.316 0.096 0.139678290688 gnomAD-3.1.2 1.97E-05 None None None None N None 4.82E-05 0 0 0 1.92753E-04 None 0 0 0 0 0
V/L 29859 Ig-147 18 rs774284668 0.1264 -0.013 None N 0.316 0.096 0.139678290688 gnomAD-4.0.0 5.60907E-06 None None None None N None 1.06789E-04 0 None 0 2.23025E-05 None 0 0 0 0 0
V/M 29859 Ig-147 18 None 0.2161 None 0.012 N 0.445 0.05 0.230578612272 gnomAD-4.0.0 1.37707E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80092E-06 0 0
L/F 30151 Ig-148 20 rs750520740 0.2766 -1.379 0.934 D 0.695 0.315 0.567605623258 gnomAD-2.1.1 4.05E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 0 0
L/F 30151 Ig-148 20 rs750520740 0.2766 -1.379 0.934 D 0.695 0.315 0.567605623258 gnomAD-4.0.0 3.22724E-06 None None None None N None 0 2.2979E-05 None 0 0 None 0 0 0 0 3.06147E-05
L/P 30151 Ig-148 20 rs568322187 0.9776 -1.457 0.966 D 0.843 0.757 0.8955048179 gnomAD-2.1.1 1.44E-05 None None None None N None 4.14E-05 0 None 0 0 None 0 None 0 2.36E-05 0
L/P 30151 Ig-148 20 rs568322187 0.9776 -1.457 0.966 D 0.843 0.757 0.8955048179 gnomAD-3.1.2 4.6E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 7.35E-05 0 0
L/P 30151 Ig-148 20 rs568322187 0.9776 -1.457 0.966 D 0.843 0.757 0.8955048179 gnomAD-4.0.0 6.16875E-05 None None None None N None 2.67437E-05 0 None 0 0 None 0 0 8.18452E-05 0 1.61197E-05
L/F 30945 Ig-150 19 None 0.57 None 1.0 N 0.771 0.417 0.732157991247 gnomAD-4.0.0 4.78217E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71667E-06 1.43275E-05 0
I/F 31235 Ig-151 18 rs373782488 0.5921 -1.51 0.89 N 0.697 0.225 None gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
I/M 31235 Ig-151 18 rs1697879569 0.2259 None 0.942 N 0.674 0.326 0.335661160332 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
I/M 31235 Ig-151 18 rs1697879569 0.2259 None 0.942 N 0.674 0.326 0.335661160332 gnomAD-4.0.0 3.09843E-06 None None None None N None 6.67503E-05 0 None 0 0 None 0 0 0 0 0
I/N 31235 Ig-151 18 None 0.9897 None 0.99 N 0.845 0.555 0.895285619443 gnomAD-4.0.0 6.84191E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99429E-07 0 0
I/T 31235 Ig-151 18 rs1246425366 0.8346 -2.482 0.942 N 0.754 0.537 0.760694194147 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
I/T 31235 Ig-151 18 rs1246425366 0.8346 -2.482 0.942 N 0.754 0.537 0.760694194147 gnomAD-4.0.0 7.5261E-06 None None None None N None 0 2.23654E-05 None 0 0 None 0 0 8.99429E-06 0 0
L/F 32034 Ig-153 18 rs879175066 0.599 None 0.999 N 0.794 0.308 0.516491959214 gnomAD-4.0.0 6.36618E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14354E-05 0 0
L/S 32034 Ig-153 18 rs778697335 0.9959 -3.173 0.999 D 0.873 0.803 0.913936636291 gnomAD-4.0.0 1.59158E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
L/V 32326 Ig-154 20 rs752927644 0.1526 -1.249 0.999 D 0.649 0.597 0.643739242672 gnomAD-2.1.1 7.17E-06 None None None None N None 0 0 None 0 1.02459E-04 None 0 None 0 0 0
L/V 32326 Ig-154 20 rs752927644 0.1526 -1.249 0.999 D 0.649 0.597 0.643739242672 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92901E-04 None 0 0 0 0 0
L/V 32326 Ig-154 20 rs752927644 0.1526 -1.249 0.999 D 0.649 0.597 0.643739242672 gnomAD-4.0.0 2.47885E-06 None None None None N None 0 0 None 0 4.45653E-05 None 0 0 1.6953E-06 0 0
L/P 32724 Ig-155 17 None 0.9943 None 0.999 D 0.85 0.75 0.904252142976 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
L/F 33120 Ig-156 20 rs772473414 0.1523 -1.615 0.338 D 0.451 0.132 None gnomAD-2.1.1 2.14E-05 None None None None N None 4.13E-05 0 None 0 0 None 0 None 0 3.91E-05 0
L/F 33120 Ig-156 20 rs772473414 0.1523 -1.615 0.338 D 0.451 0.132 None gnomAD-3.1.2 3.29E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 4.41E-05 0 0
L/F 33120 Ig-156 20 rs772473414 0.1523 -1.615 0.338 D 0.451 0.132 None gnomAD-4.0.0 1.1156E-05 None None None None N None 2.67065E-05 0 None 0 0 None 0 0 1.35628E-05 0 0
I/V 33615 Ig-159 20 None 0.1893 None 0.987 N 0.368 0.342 0.602107291794 gnomAD-4.0.0 1.5923E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85853E-06 0 0
Y/H 34155 Ig-160 19 None 0.9559 None 0.975 N 0.604 0.569 0.405839309607 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
F/L 34961 Ig-163 20 rs934181908 0.9893 None 0.999 N 0.681 0.612 0.372446077551 gnomAD-4.0.0 6.8414E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99399E-06 0 0
L/P 35303 Ig-165 18 rs369198301 0.9965 -1.683 0.995 D 0.906 0.85 None gnomAD-2.1.1 8.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
L/P 35303 Ig-165 18 rs369198301 0.9965 -1.683 0.995 D 0.906 0.85 None gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/P 35303 Ig-165 18 rs369198301 0.9965 -1.683 0.995 D 0.906 0.85 None gnomAD-4.0.0 3.84254E-06 None None None None N None 0 0 None 0 0 None 0 0 7.17724E-06 0 0
L/V 35303 Ig-165 18 None 0.2326 None 0.64 D 0.567 0.385 0.620567169836 gnomAD-4.0.0 3.18191E-06 None None None None N None 0 0 None 0 0 None 0 0 5.7152E-06 0 0
F/L 35439 Ig-166 20 None 0.7818 None None N 0.226 0.214 0.0762999501168 gnomAD-4.0.0 1.36892E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79964E-06 0 0
F/S 35439 Ig-166 20 None 0.9398 None 0.49 D 0.698 0.648 0.791405280886 gnomAD-4.0.0 1.59251E-06 None None None None N None 0 2.28697E-05 None 0 0 None 0 0 0 0 0
L/V 35626 Ig-167 20 rs373152640 0.2285 -1.401 0.999 N 0.604 0.457 None gnomAD-2.1.1 4.64E-05 None None None None N None 3.71962E-04 0 None 0 5.12E-05 None 3.27E-05 None 0 7.8E-06 1.40331E-04
L/V 35626 Ig-167 20 rs373152640 0.2285 -1.401 0.999 N 0.604 0.457 None gnomAD-3.1.2 6.57E-05 None None None None N None 1.68878E-04 0 0 0 1.92234E-04 None 0 0 2.94E-05 0 0
L/V 35626 Ig-167 20 rs373152640 0.2285 -1.401 0.999 N 0.604 0.457 None 1000 genomes 5.99042E-04 None None None None N None 1.5E-03 0 None None 1E-03 0 None None None 0 None
L/V 35626 Ig-167 20 rs373152640 0.2285 -1.401 0.999 N 0.604 0.457 None gnomAD-4.0.0 4.39903E-05 None None None None N None 5.46288E-04 0 None 0 1.78213E-04 None 0 1.64962E-04 4.2377E-06 3.29366E-05 2.08053E-04
F/S 35721 Ig-168 20 None 0.9941 None 0.971 D 0.845 0.853 0.88957548057 gnomAD-4.0.0 1.59292E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86051E-06 0 0
V/L 35916 Ig-169 20 rs1686792927 0.5962 None 0.001 N 0.287 0.153 0.293502639404 gnomAD-4.0.0 7.20193E-06 None None None -1.992(OBSL1) -0.882(OBSCN) N None 0 0 None 0 0 None 0 0 7.87501E-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.