Structural position:

  • Domain Type: Ig
  • Aligned Position: 138
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand E

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
L/V 65 Ig-1 60 None 0.4066 None 0.998 D 0.679 0.498 0.449669948863 gnomAD-4.0.0 1.20034E-06 None None None -0.757(TCAP) N None 0 0 None 0 0 None 0 0 0 0 3.66354E-05
L/S 161 Ig-2 58 None 0.9988 None 1.0 D 0.887 0.876 0.919668010579 gnomAD-4.0.0 1.20032E-06 None None None -0.257(TCAP) N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
L/F 1000 Ig-3 58 rs140953779 0.9176 -1.831 0.999 D 0.781 0.492 None gnomAD-2.1.1 3.54E-05 None None None None N None 4.00705E-04 0 None 0 0 None 0 None 0 0 0
L/F 1000 Ig-3 58 rs140953779 0.9176 -1.831 0.999 D 0.781 0.492 None gnomAD-3.1.2 3.29E-05 None None None None N None 9.66E-05 6.55E-05 0 0 0 None 0 0 0 0 0
L/F 1000 Ig-3 58 rs140953779 0.9176 -1.831 0.999 D 0.781 0.492 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 1000 Ig-3 58 rs140953779 0.9176 -1.831 0.999 D 0.781 0.492 None gnomAD-4.0.0 1.40848E-05 None None None None N None 1.68799E-04 1.69388E-05 None 0 0 None 0 0 0 0 0
L/M 1141 Ig-4 60 None 0.601 None 1.0 D 0.785 0.536 0.715311462823 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 1515 Ig-6 59 None 0.3643 None 0.984 D 0.673 0.547 0.859270295341 gnomAD-4.0.0 6.8419E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9936E-07 0 0
L/F 1615 Ig-7 60 rs777977684 0.4732 -1.652 0.121 D 0.423 0.367 None gnomAD-2.1.1 4E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.85E-06 0
L/F 1615 Ig-7 60 rs777977684 0.4732 -1.652 0.121 D 0.423 0.367 None gnomAD-4.0.0 6.1572E-06 None None None None N None 2.98775E-05 0 None 0 0 None 0 0 7.19453E-06 0 0
L/Q 1897 Ig-9 57 rs1299766514 0.9938 -2.207 1.0 D 0.902 0.69 0.896200649061 gnomAD-2.1.1 3.98E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
L/Q 1897 Ig-9 57 rs1299766514 0.9938 -2.207 1.0 D 0.902 0.69 0.896200649061 gnomAD-4.0.0 1.5905E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
L/F 2136 Ig-10 59 rs761940711 0.7184 -1.444 1.0 D 0.819 0.622 0.826486407297 gnomAD-2.1.1 3.98E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
L/F 2136 Ig-10 59 rs761940711 0.7184 -1.444 1.0 D 0.819 0.622 0.826486407297 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
L/F 2136 Ig-10 59 rs761940711 0.7184 -1.444 1.0 D 0.819 0.622 0.826486407297 gnomAD-4.0.0 2.47854E-06 None None None None N None 4.00588E-05 0 None 0 0 None 1.56226E-05 0 0 0 0
L/F 2231 Ig-11 58 None 0.503 None 0.142 D 0.471 0.36 0.370240404367 gnomAD-4.0.0 1.59083E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85691E-06 0 0
L/M 2412 Ig-13 57 None 0.5388 None 1.0 D 0.787 0.607 0.941346318489 gnomAD-4.0.0 1.59053E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8566E-06 0 0
L/R 2412 Ig-13 57 None 0.9949 None 1.0 D 0.907 0.962 0.95519357536 gnomAD-4.0.0 1.59052E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8566E-06 0 0
L/F 2589 Ig-15 57 rs372080212 0.7111 -1.617 1.0 D 0.827 0.599 0.810717827077 gnomAD-2.1.1 5.33E-05 None None None None N None 4.44444E-04 8.5E-05 None 0 0 None 0 None 0 0 1.39626E-04
L/F 2589 Ig-15 57 rs372080212 0.7111 -1.617 1.0 D 0.827 0.599 0.810717827077 gnomAD-3.1.2 1.05193E-04 None None None None N None 3.38115E-04 6.55E-05 0 0 0 None 0 0 1.47E-05 0 0
L/F 2589 Ig-15 57 rs372080212 0.7111 -1.617 1.0 D 0.827 0.599 0.810717827077 gnomAD-4.0.0 1.92124E-05 None None None None N None 3.07207E-04 8.3414E-05 None 0 0 None 0 0 8.47581E-07 0 3.20154E-05
L/F 2676 Ig-16 56 rs1411544745 0.5793 -1.843 1.0 D 0.807 0.57 0.418344901717 gnomAD-2.1.1 7.96E-06 None None None None N None 0 0 None 0 1.09123E-04 None 0 None 0 0 0
L/F 2676 Ig-16 56 rs1411544745 0.5793 -1.843 1.0 D 0.807 0.57 0.418344901717 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
L/F 2676 Ig-16 56 rs1411544745 0.5793 -1.843 1.0 D 0.807 0.57 0.418344901717 gnomAD-4.0.0 7.43507E-06 None None None None N None 0 3.33378E-05 None 0 1.7838E-04 None 0 0 1.6949E-06 0 0
L/V 2764 Ig-17 58 rs2091305777 0.3577 None 0.885 D 0.658 0.538 0.863069828929 gnomAD-4.0.0 4.10441E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39576E-06 0 0
L/V 2938 Ig-19 57 rs755055056 0.7907 -1.156 0.999 D 0.639 0.738 0.825267418204 gnomAD-2.1.1 3.54E-05 None None None None N None 0 0 None 0 0 None 0 None 3.98153E-04 0 0
L/V 2938 Ig-19 57 rs755055056 0.7907 -1.156 0.999 D 0.639 0.738 0.825267418204 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 1.88786E-04 0 0 0 0
L/V 2938 Ig-19 57 rs755055056 0.7907 -1.156 0.999 D 0.639 0.738 0.825267418204 gnomAD-4.0.0 1.79312E-05 None None None None N None 0 0 None 0 0 None 2.1967E-04 0 0 0 0
L/V 3025 Ig-20 57 rs142410663 0.5569 -0.563 0.999 D 0.674 0.702 None gnomAD-2.1.1 7.96E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.76E-05 0
L/V 3025 Ig-20 57 rs142410663 0.5569 -0.563 0.999 D 0.674 0.702 None gnomAD-4.0.0 3.1812E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71298E-06 0 0
L/F 3114 Ig-21 57 rs556868685 0.7569 -1.436 0.993 D 0.799 0.417 0.347217280506 gnomAD-2.1.1 7.97E-06 None None None None N None 6.15E-05 2.89E-05 None 0 0 None 0 None 0 0 0
L/F 3114 Ig-21 57 rs556868685 0.7569 -1.436 0.993 D 0.799 0.417 0.347217280506 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 3114 Ig-21 57 rs556868685 0.7569 -1.436 0.993 D 0.799 0.417 0.347217280506 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 3114 Ig-21 57 rs556868685 0.7569 -1.436 0.993 D 0.799 0.417 0.347217280506 gnomAD-4.0.0 3.09766E-06 None None None None N None 1.33223E-05 1.66628E-05 None 0 0 None 0 0 2.54237E-06 0 0
M/I 3205 Ig-22 59 None 0.9379 None 0.028 N 0.335 0.175 0.319970858106 gnomAD-4.0.0 1.59053E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85656E-06 0 0
M/T 3205 Ig-22 59 rs1315204138 0.9945 -0.626 0.912 N 0.694 0.329 0.513503867364 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
M/T 3205 Ig-22 59 rs1315204138 0.9945 -0.626 0.912 N 0.694 0.329 0.513503867364 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
M/T 3205 Ig-22 59 rs1315204138 0.9945 -0.626 0.912 N 0.694 0.329 0.513503867364 gnomAD-4.0.0 2.02982E-06 None None None None N None 1.74685E-05 0 None 0 0 None 0 5.16529E-04 0 0 0
L/F 3296 Ig-23 58 rs1449589213 0.6808 -1.599 0.993 D 0.761 0.614 0.87793777064 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/F 3296 Ig-23 58 rs1449589213 0.6808 -1.599 0.993 D 0.761 0.614 0.87793777064 gnomAD-4.0.0 3.18099E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85647E-06 1.43275E-05 0
M/I 3524 Ig-25 60 rs1049058784 0.8456 None None None None 0.119 None 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/L 3524 Ig-25 60 None 0.1908 None None None None 0.1 None 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
F/I 3996 Ig-28 59 None 0.4348 None 0.006 N 0.387 0.052 None gnomAD-4.0.0 2.0528E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69829E-06 0 0
F/L 3996 Ig-28 59 rs1247960779 0.8088 -0.583 None N 0.279 0.057 None 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 3996 Ig-28 59 rs1247960779 0.8088 -0.583 None N 0.279 0.057 None gnomAD-4.0.0 1.59171E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
F/S 3996 Ig-28 59 rs778023038 0.9876 -2.48 0.492 N 0.805 0.452 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
L/P 4945 Ig-32 58 None 0.9881 None 1.0 D 0.919 0.832 0.861823502751 gnomAD-4.0.0 1.5918E-06 None None None None N None 0 2.28728E-05 None 0 0 None 0 0 0 0 0
L/V 4945 Ig-32 58 None 0.0899 None 0.767 N 0.42 0.387 0.688782367926 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
L/F 5039 Ig-33 59 rs917573806 0.5288 None 1.0 D 0.821 0.544 0.710613719351 gnomAD-4.0.0 1.5913E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8584E-06 0 0
L/P 5132 Ig-34 58 None 0.994 None 1.0 D 0.918 0.922 0.945249901596 gnomAD-4.0.0 1.59144E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85863E-06 0 0
L/F 5318 Ig-36 58 rs1312777672 0.5724 -1.315 0.999 D 0.8 0.632 0.802960216855 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
L/F 5318 Ig-36 58 rs1312777672 0.5724 -1.315 0.999 D 0.8 0.632 0.802960216855 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
L/F 5318 Ig-36 58 rs1312777672 0.5724 -1.315 0.999 D 0.8 0.632 0.802960216855 gnomAD-4.0.0 3.84337E-06 None None None None N None 3.38192E-05 0 None 0 0 None 0 0 0 1.3402E-05 0
L/I 5318 Ig-36 58 rs1312777672 0.1997 -0.145 0.992 D 0.677 0.536 0.77125546122 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 6.4433E-04 None 0 None 0 0 0
L/I 5318 Ig-36 58 rs1312777672 0.1997 -0.145 0.992 D 0.677 0.536 0.77125546122 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
L/I 5318 Ig-36 58 rs1312777672 0.1997 -0.145 0.992 D 0.677 0.536 0.77125546122 gnomAD-4.0.0 6.57082E-06 None None None None N None 0 0 None 0 1.9253E-04 None 0 0 0 0 0
L/R 5318 Ig-36 58 None 0.9794 None 0.999 D 0.893 0.857 0.8876104219 gnomAD-4.0.0 6.84218E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99463E-07 0 0
L/S 5414 Ig-37 58 rs764508505 0.9806 -3.247 0.997 D 0.893 0.774 0.910103704093 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 1.68312E-04 None 0 None 0 0 0
L/S 5414 Ig-37 58 rs764508505 0.9806 -3.247 0.997 D 0.893 0.774 0.910103704093 gnomAD-4.0.0 1.36864E-06 None None None None N None 0 0 None 0 5.05306E-05 None 0 0 0 0 0
L/W 5414 Ig-37 58 rs764508505 0.9478 None 1.0 D 0.874 0.793 0.90289129007 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/W 5414 Ig-37 58 rs764508505 0.9478 None 1.0 D 0.874 0.793 0.90289129007 gnomAD-4.0.0 1.8594E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69529E-06 0 1.60169E-05
L/S 5787 Ig-41 58 rs752558864 0.9914 -2.694 0.997 D 0.808 0.852 0.898220301615 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.34E-05 0
L/S 5787 Ig-41 58 rs752558864 0.9914 -2.694 0.997 D 0.808 0.852 0.898220301615 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/S 5787 Ig-41 58 rs752558864 0.9914 -2.694 0.997 D 0.808 0.852 0.898220301615 gnomAD-4.0.0 2.41686E-05 None None None None N None 0 0 None 0 0 None 0 0 3.13616E-05 0 3.20256E-05
L/Q 5880 Ig-42 58 rs1328429496 0.9761 -1.933 1.0 D 0.902 0.798 0.875547642386 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
L/Q 5880 Ig-42 58 rs1328429496 0.9761 -1.933 1.0 D 0.902 0.798 0.875547642386 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/Q 5880 Ig-42 58 rs1328429496 0.9761 -1.933 1.0 D 0.902 0.798 0.875547642386 gnomAD-4.0.0 6.57566E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47063E-05 0 0
L/R 5880 Ig-42 58 None 0.9817 None 1.0 D 0.888 0.839 0.875113701297 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 3.66327E-05
L/I 6069 Ig-44 58 None 0.1628 None 0.79 N 0.377 0.37 0.308904156042 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
L/P 6069 Ig-44 58 None 0.9884 None 1.0 D 0.915 0.754 0.898168116285 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85894E-06 0 0
F/S 6163 Ig-45 59 rs1458021092 0.8784 None 0.891 D 0.813 0.622 0.827827249136 gnomAD-4.0.0 1.59137E-06 None None None None N None 0 0 None 0 0 None 0 2.41663E-04 0 0 0
L/F 6256 Ig-46 58 rs747713653 0.4943 None 1.0 D 0.825 0.586 0.756636443533 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
L/F 6256 Ig-46 58 rs747713653 0.4943 None 1.0 D 0.825 0.586 0.756636443533 gnomAD-4.0.0 1.85934E-06 None None None None N None 0 3.33578E-05 None 0 0 None 0 0 0 0 1.60133E-05
L/I 6256 Ig-46 58 rs747713653 0.1833 -0.515 0.999 N 0.667 0.537 0.711290743721 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
L/I 6256 Ig-46 58 rs747713653 0.1833 -0.515 0.999 N 0.667 0.537 0.711290743721 gnomAD-4.0.0 6.84281E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99552E-07 0 0
L/R 6256 Ig-46 58 rs780526976 0.9772 -1.943 1.0 D 0.913 0.826 0.872484263163 gnomAD-2.1.1 3.58E-05 None None None None N None 0 0 None 0 0 None 0 None 3.19744E-04 7.85E-06 1.40568E-04
L/R 6256 Ig-46 58 rs780526976 0.9772 -1.943 1.0 D 0.913 0.826 0.872484263163 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 2.83286E-04 0 0 0 0
L/R 6256 Ig-46 58 rs780526976 0.9772 -1.943 1.0 D 0.913 0.826 0.872484263163 gnomAD-4.0.0 4.74189E-05 None None None None N None 0 0 None 0 0 None 4.08112E-04 0 2.15446E-05 0 5.69022E-05
L/I 6349 Ig-47 58 rs2079884280 0.2847 None 0.688 D 0.706 0.398 0.591171394266 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/I 6349 Ig-47 58 rs2079884280 0.2847 None 0.688 D 0.706 0.398 0.591171394266 gnomAD-4.0.0 6.57428E-06 None None None None N None 2.41383E-05 0 None 0 0 None 0 0 0 0 0
L/P 6538 Ig-49 58 rs1376037086 0.9889 None 1.0 D 0.894 0.851 0.919609823937 gnomAD-4.0.0 4.77943E-06 None None None None N None 0 0 None 0 5.55494E-05 None 0 0 0 0 3.02828E-05
L/S 6631 Ig-50 58 None 0.9818 None 1.0 D 0.888 0.806 0.88376241617 gnomAD-4.0.0 1.36887E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79948E-06 0 0
I/M 6725 Ig-51 59 rs146627500 0.0913 -1.275 0.001 N 0.421 0.09 None gnomAD-2.1.1 3.41552E-03 None None None None N None 1.2409E-04 7.64873E-04 None 1.06631E-03 0 None 2.17135E-02 None 4E-05 1.77866E-03 3.09772E-03
I/M 6725 Ig-51 59 rs146627500 0.0913 -1.275 0.001 N 0.421 0.09 None gnomAD-3.1.2 1.74876E-03 None None None None N None 1.68911E-04 1.70447E-03 0 8.65052E-04 0 None 0 0 1.6473E-03 2.37997E-02 1.43267E-03
I/M 6725 Ig-51 59 rs146627500 0.0913 -1.275 0.001 N 0.421 0.09 None 1000 genomes 5.99042E-03 None None None None N None 0 1.4E-03 None None 0 2E-03 None None None 2.76E-02 None
I/M 6725 Ig-51 59 rs146627500 0.0913 -1.275 0.001 N 0.421 0.09 None gnomAD-4.0.0 2.17133E-03 None None None None N None 2.40032E-04 9.50412E-04 None 8.4528E-04 4.45991E-05 None 6.24863E-05 4.1295E-03 1.08779E-03 2.11368E-02 2.64186E-03
I/V 6725 Ig-51 59 rs1241938140 0.1387 None 0.002 N 0.38 0.152 0.165133752707 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/V 6725 Ig-51 59 rs1241938140 0.1387 None 0.002 N 0.38 0.152 0.165133752707 gnomAD-4.0.0 6.57367E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
I/T 6818 Ig-52 58 rs1371747838 0.8922 -2.526 0.998 N 0.767 0.763 0.826127071158 gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
I/T 6818 Ig-52 58 rs1371747838 0.8922 -2.526 0.998 N 0.767 0.763 0.826127071158 gnomAD-4.0.0 1.36887E-06 None None None None N None 2.99079E-05 2.23874E-05 None 0 0 None 0 0 0 0 0
I/V 6818 Ig-52 58 rs2079253032 0.1037 None 0.003 N 0.227 0.167 0.619456947012 gnomAD-4.0.0 7.96229E-06 None None None None N None 0 0 None 0 1.38727E-04 None 0 0 0 0 0
L/I 6912 Ig-53 59 rs879042542 0.2314 -0.505 0.994 D 0.614 0.508 None gnomAD-2.1.1 3.19E-05 None None None None N None 1.14784E-04 0 None 0 0 None 0 None 0 0 0
L/I 6912 Ig-53 59 rs879042542 0.2314 -0.505 0.994 D 0.614 0.508 None 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
L/P 6912 Ig-53 59 rs780735199 0.9973 -1.539 0.998 D 0.888 0.865 0.832001373036 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
L/P 6912 Ig-53 59 rs780735199 0.9973 -1.539 0.998 D 0.888 0.865 0.832001373036 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
L/P 6912 Ig-53 59 rs780735199 0.9973 -1.539 0.998 D 0.888 0.865 0.832001373036 gnomAD-4.0.0 2.56391E-06 None None None None N None 0 0 None 0 0 None 1.56966E-05 0 0 0 2.84706E-05
L/F 7005 Ig-54 58 None 0.4327 None 0.982 N 0.691 0.533 0.605722390383 gnomAD-4.0.0 1.59181E-06 None None None None N None 0 0 None 0 2.77362E-05 None 0 0 0 0 0
L/S 7101 Ig-55 58 None 0.9805 None 1.0 D 0.873 0.772 0.898077514524 gnomAD-4.0.0 1.59191E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85969E-06 0 0
L/P 7194 Ig-56 58 None 0.9956 None 0.991 D 0.922 0.807 0.914077616967 gnomAD-4.0.0 1.59231E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4339E-05 0
L/V 7287 Ig-57 58 rs754054875 0.3353 -1.544 0.998 D 0.701 0.592 0.737275244558 gnomAD-2.1.1 7.15E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
L/V 7287 Ig-57 58 rs754054875 0.3353 -1.544 0.998 D 0.701 0.592 0.737275244558 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
L/V 7287 Ig-57 58 rs754054875 0.3353 -1.544 0.998 D 0.701 0.592 0.737275244558 gnomAD-4.0.0 3.09914E-06 None None None None N None 6.67824E-05 0 None 0 0 None 0 0 0 0 0
L/F 7380 Ig-58 58 rs1322468244 0.5157 None 1.0 D 0.713 0.564 0.780422376419 gnomAD-4.0.0 2.73776E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59859E-06 0 0
L/I 7380 Ig-58 58 rs1322468244 0.1518 0.069 0.979 N 0.635 0.446 0.706338937978 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
L/R 7380 Ig-58 58 rs1273455014 0.9716 None 1.0 D 0.87 0.859 0.821671387332 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/R 7380 Ig-58 58 rs1273455014 0.9716 None 1.0 D 0.87 0.859 0.821671387332 gnomAD-4.0.0 6.5722E-06 None None None None N None 2.41185E-05 0 None 0 0 None 0 0 0 0 0
L/F 7476 Ig-59 58 rs1196470508 0.514 -1.581 1.0 D 0.821 0.65 0.770564647879 gnomAD-2.1.1 7.18E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
L/F 7476 Ig-59 58 rs1196470508 0.514 -1.581 1.0 D 0.821 0.65 0.770564647879 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 7476 Ig-59 58 rs1196470508 0.514 -1.581 1.0 D 0.821 0.65 0.770564647879 gnomAD-4.0.0 7.6915E-06 None None None None N None 0 0 None 0 0 None 0 0 1.43671E-05 0 0
L/S 7476 Ig-59 58 rs1330405287 0.9902 None 1.0 D 0.878 0.872 0.917983046632 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
L/S 7476 Ig-59 58 rs1330405287 0.9902 None 1.0 D 0.878 0.872 0.917983046632 gnomAD-4.0.0 2.03002E-06 None None None None N None 0 6.16295E-05 None 0 0 None 0 0 0 4.69704E-05 0
L/S 7572 Ig-60 58 rs759949024 0.9978 -3.078 1.0 D 0.885 0.696 0.888493578324 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
L/S 7572 Ig-60 58 rs759949024 0.9978 -3.078 1.0 D 0.885 0.696 0.888493578324 gnomAD-4.0.0 6.84338E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99637E-07 0 0
L/V 7572 Ig-60 58 None 0.4009 None 0.994 D 0.746 0.553 0.632447501408 gnomAD-4.0.0 6.84317E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99607E-07 0 0
L/F 7666 Ig-61 59 None 0.6107 None 1.0 D 0.803 0.523 0.758381520966 gnomAD-4.0.0 1.36886E-06 None None None None N None 5.97943E-05 0 None 0 0 None 0 0 0 0 0
L/V 7666 Ig-61 59 rs2078276460 0.3215 None 0.989 D 0.65 0.515 0.721660892059 gnomAD-4.0.0 6.84431E-07 None None None None N None 0 0 None 0 2.51991E-05 None 0 0 0 0 0
L/I 7759 Ig-62 58 None 0.1139 None 0.885 N 0.607 0.443 0.601121310199 gnomAD-4.0.0 2.05283E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79909E-06 1.1595E-05 0
L/F 7853 Ig-63 59 rs776061262 0.5562 -1.688 0.988 D 0.806 0.609 0.685073295601 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.89E-06 0
L/F 7853 Ig-63 59 rs776061262 0.5562 -1.688 0.988 D 0.806 0.609 0.685073295601 gnomAD-4.0.0 3.18285E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 3.02462E-05
L/S 8042 Ig-65 58 rs774349184 0.925 -3.319 0.925 D 0.835 0.653 0.886485767826 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
L/S 8042 Ig-65 58 rs774349184 0.925 -3.319 0.925 D 0.835 0.653 0.886485767826 gnomAD-4.0.0 1.59125E-06 None None None None N None 0 2.28645E-05 None 0 0 None 0 0 0 0 0
L/M 8135 Ig-66 58 rs762631646 0.2206 -0.821 0.825 D 0.589 0.405 0.557792573389 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
L/M 8135 Ig-66 58 rs762631646 0.2206 -0.821 0.825 D 0.589 0.405 0.557792573389 gnomAD-4.0.0 1.59128E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
L/R 8135 Ig-66 58 rs2077892519 0.9742 None 0.994 D 0.901 0.849 0.895273315748 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
L/R 8135 Ig-66 58 rs2077892519 0.9742 None 0.994 D 0.901 0.849 0.895273315748 gnomAD-4.0.0 5.12441E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.35992E-05 0
L/F 8417 Ig-69 58 rs774234445 0.6722 -1.504 0.999 D 0.79 0.535 0.714281344481 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
L/F 8417 Ig-69 58 rs774234445 0.6722 -1.504 0.999 D 0.79 0.535 0.714281344481 gnomAD-4.0.0 4.7774E-06 None None None None N None 0 2.28802E-05 None 0 0 None 0 0 2.85989E-06 0 3.027E-05
L/P 8513 Ig-70 58 None 0.9987 None 1.0 D 0.909 0.862 0.922627982565 gnomAD-4.0.0 1.59169E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85917E-06 0 0
L/P 8607 Ig-71 59 rs780404365 0.9912 -1.635 1.0 D 0.924 0.841 0.895674922005 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
L/R 8607 Ig-71 59 None 0.9656 None 0.999 D 0.918 0.831 0.876399648183 gnomAD-4.0.0 1.59155E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85901E-06 0 0
I/N 8700 Ig-72 58 rs1404662292 0.9333 -3.013 1.0 N 0.88 0.545 0.809427183511 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
I/N 8700 Ig-72 58 rs1404662292 0.9333 -3.013 1.0 N 0.88 0.545 0.809427183511 gnomAD-4.0.0 1.59141E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02389E-05
I/V 8700 Ig-72 58 None 0.0962 None 0.163 N 0.363 0.103 0.335910606209 gnomAD-4.0.0 1.36847E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79905E-06 0 0
L/I 8794 Ig-73 59 None 0.163 0.057 0.165 D 0.633 0.258 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
L/I 8794 Ig-73 59 None 0.163 0.057 0.165 D 0.633 0.258 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
L/I 8794 Ig-73 59 None 0.163 0.057 0.165 D 0.633 0.258 None gnomAD-4.0.0 3.09861E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23819E-06 0 0
L/V 8794 Ig-73 59 rs372229450 0.1712 -0.582 0.005 D 0.439 0.289 0.555987101472 gnomAD-2.1.1 2.5E-05 None None None None N None 0 0 None 0 3.58607E-04 None 0 None 0 0 0
L/V 8794 Ig-73 59 rs372229450 0.1712 -0.582 0.005 D 0.439 0.289 0.555987101472 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 5.78258E-04 None 0 0 0 0 0
L/V 8794 Ig-73 59 rs372229450 0.1712 -0.582 0.005 D 0.439 0.289 0.555987101472 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
L/V 8794 Ig-73 59 rs372229450 0.1712 -0.582 0.005 D 0.439 0.289 0.555987101472 gnomAD-4.0.0 1.79706E-05 None None None None N None 0 0 None 0 6.23969E-04 None 0 0 8.47643E-07 0 0
L/F 8983 Ig-75 58 rs878969676 0.4301 -1.569 0.99 D 0.598 0.58 0.510466299808 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/F 8983 Ig-75 58 rs878969676 0.4301 -1.569 0.99 D 0.598 0.58 0.510466299808 gnomAD-4.0.0 6.84241E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99491E-06 0 0
L/V 8983 Ig-75 58 rs2154296469 0.2897 None 0.822 D 0.685 0.414 0.416075642716 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
L/V 8983 Ig-75 58 rs2154296469 0.2897 None 0.822 D 0.685 0.414 0.416075642716 gnomAD-4.0.0 6.56711E-06 None None None None N None 0 0 None 0 1.92976E-04 None 0 0 0 0 0
L/V 9076 Ig-76 58 None 0.3389 None 0.981 D 0.685 0.566 0.632033471028 gnomAD-4.0.0 1.36846E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79896E-06 0 0
L/M 9169 Ig-77 58 None 0.2206 None 1.0 D 0.809 0.622 0.822590732275 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 9169 Ig-77 58 rs769078430 0.9987 -1.835 1.0 D 0.901 0.854 0.92016668155 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
L/P 9169 Ig-77 58 rs769078430 0.9987 -1.835 1.0 D 0.901 0.854 0.92016668155 gnomAD-4.0.0 3.18227E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71595E-06 0 0
L/V 9262 Ig-78 58 rs897313799 0.2311 None 0.999 D 0.655 0.596 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/V 9262 Ig-78 58 rs897313799 0.2311 None 0.999 D 0.655 0.596 None gnomAD-4.0.0 6.57125E-06 None None None None N None 2.41255E-05 0 None 0 0 None 0 0 0 0 0
L/F 9358 Ig-79 58 rs1266271972 0.5515 -1.461 1.0 None 0.822 0.624 0.750213111841 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
L/F 9358 Ig-79 58 rs1266271972 0.5515 -1.461 1.0 None 0.822 0.624 0.750213111841 gnomAD-4.0.0 1.59111E-06 None None None None N None 0 0 None 0 2.77239E-05 None 0 0 0 0 0
L/P 9551 Ig-81 59 None 0.9977 None 1.0 None 0.91 0.859 0.908716035956 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/M 9647 Ig-82 58 None 0.2145 -0.916 1.0 None 0.78 0.569 0.709279802104 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/M 9647 Ig-82 58 None 0.2145 -0.916 1.0 None 0.78 0.569 0.709279802104 gnomAD-4.0.0 1.59119E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85788E-06 0 0
L/W 10045 Ig-85 57 rs776484795 0.9487 -1.715 1.0 None 0.843 0.765 0.878366613624 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/W 10045 Ig-85 57 rs776484795 0.9487 -1.715 1.0 None 0.843 0.765 0.878366613624 gnomAD-4.0.0 3.04479E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61477E-06 0 0
M/I 10134 Ig-86 57 None 0.9824 None 0.309 None 0.523 0.263 0.363158594168 gnomAD-4.0.0 3.18188E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86648E-05 0
M/T 10134 Ig-86 57 rs755668668 0.9986 -0.242 0.684 None 0.743 0.418 0.54665026281 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
L/V 13837 Ig-88 58 None 0.3499 None 0.022 N 0.284 0.115 0.276482976112 gnomAD-4.0.0 6.84402E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65695E-05
L/F 14021 Ig-90 57 None 0.9718 None 0.999 D 0.811 0.544 0.620476206791 gnomAD-4.0.0 6.8478E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16347E-05 0
M/I 14464 Ig-95 57 rs370601384 0.3116 1.039 0.002 N 0.441 0.32 0.529161192476 gnomAD-2.1.1 3.22E-05 None None None None N None 6.46E-05 1.44919E-04 None 0 0 None 0 None 0 1.79E-05 0
M/I 14464 Ig-95 57 rs370601384 0.3116 1.039 0.002 N 0.441 0.32 0.529161192476 gnomAD-3.1.2 7.23E-05 None None None None N None 4.82E-05 3.93649E-04 0 0 0 None 0 0 4.41E-05 0 0
M/I 14464 Ig-95 57 rs370601384 0.3116 1.039 0.002 N 0.441 0.32 0.529161192476 gnomAD-4.0.0 2.47932E-05 None None None None N None 2.67023E-05 1.83468E-04 None 0 0 None 0 0 2.03462E-05 0 4.80507E-05
I/V 14553 Ig-96 57 None 0.1348 None 0.022 N 0.216 0.297 0.533662478252 gnomAD-4.0.0 6.86982E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.17467E-05 0
L/F 14731 Ig-98 57 rs771361227 0.7995 -1.643 0.999 D 0.82 0.593 0.785219713586 gnomAD-2.1.1 1.13242E-04 None None None None N None 0 0 None 0 0 None 9.30356E-04 None 0 0 0
L/F 14731 Ig-98 57 rs771361227 0.7995 -1.643 0.999 D 0.82 0.593 0.785219713586 gnomAD-3.1.2 4.6E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.45228E-03 0
L/F 14731 Ig-98 57 rs771361227 0.7995 -1.643 0.999 D 0.82 0.593 0.785219713586 gnomAD-4.0.0 6.45231E-05 None None None None N None 0 0 None 0 0 None 0 0 8.48031E-07 1.09363E-03 6.4119E-05
L/F 14909 Ig-100 57 None 0.7011 None 1.0 D 0.817 0.608 0.55810899713 gnomAD-4.0.0 1.5934E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
L/F 15264 Ig-104 57 None 0.7204 None 1.0 D 0.813 0.72 0.752632724806 gnomAD-4.0.0 4.79222E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29921E-06 0 0
L/P 15264 Ig-104 57 None 0.9989 None 1.0 D 0.915 0.865 0.911412973807 gnomAD-4.0.0 1.59332E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43328E-05 0
L/V 15264 Ig-104 57 None 0.4587 None 0.999 D 0.623 0.662 0.726062263 gnomAD-4.0.0 6.84603E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15969E-05 0
L/F 15447 Ig-106 57 None 0.9035 None 1.0 D 0.81 0.724 0.909987953017 gnomAD-4.0.0 1.59565E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43666E-05 0
L/Q 15536 Ig-107 57 rs775884428 0.9919 -2.643 1.0 D 0.912 0.896 0.892716174367 gnomAD-2.1.1 2.42E-05 None None None None N None 0 0 None 0 0 None 1.96181E-04 None 0 0 0
L/Q 15536 Ig-107 57 rs775884428 0.9919 -2.643 1.0 D 0.912 0.896 0.892716174367 gnomAD-4.0.0 8.9016E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.39221E-04 1.65837E-05
F/L 15622 Ig-108 55 rs758851565 0.8367 -0.227 0.91 N 0.695 0.254 0.296329037015 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
F/L 15622 Ig-108 55 rs758851565 0.8367 -0.227 0.91 N 0.695 0.254 0.296329037015 gnomAD-4.0.0 1.59483E-06 None None None None N None 0 0 None 0 2.78489E-05 None 0 0 0 0 0
V/M 16316 Ig-110 55 None 0.342 None 0.998 N 0.694 0.175 0.454987352986 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/P 17012 Ig-111 58 None 0.9949 None 1.0 D 0.905 0.883 0.911962184262 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 17729 Ig-113 53 rs767559716 0.2298 -1.485 0.198 N 0.387 0.381 0.510872562601 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
L/V 17729 Ig-113 53 rs767559716 0.2298 -1.485 0.198 N 0.387 0.381 0.510872562601 gnomAD-4.0.0 6.84397E-07 None None None None N None 0 2.23664E-05 None 0 0 None 0 0 0 0 0
L/F 18030 Ig-114 63 None 0.3155 None 0.864 N 0.593 0.504 0.532744658726 gnomAD-4.0.0 1.3692E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79975E-06 0 0
L/S 18749 Ig-116 62 rs2052744702 0.9931 None 0.997 D 0.895 0.85 0.902597205664 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/L 19148 Ig-117 54 None 0.0965 None 0.001 N 0.224 0.102 0.154104182512 gnomAD-4.0.0 2.05325E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69892E-06 0 0
M/T 19148 Ig-117 54 rs751101760 0.9076 None 0.6 N 0.595 0.302 0.60311569301 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
M/V 19148 Ig-117 54 rs188185141 0.1093 -0.463 0.065 N 0.425 0.144 None gnomAD-2.1.1 4.97484E-04 None None None None N None 8.27E-05 5.67E-05 None 0 4.13522E-04 None 0 None 4.79655E-04 8.86094E-04 2.81294E-04
M/V 19148 Ig-117 54 rs188185141 0.1093 -0.463 0.065 N 0.425 0.144 None gnomAD-3.1.2 3.94612E-04 None None None None N None 1.20697E-04 6.55E-05 0 0 5.83658E-04 None 1.88288E-04 0 7.0609E-04 0 4.78011E-04
M/V 19148 Ig-117 54 rs188185141 0.1093 -0.463 0.065 N 0.425 0.144 None 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 1E-03 1E-03 None None None 0 None
M/V 19148 Ig-117 54 rs188185141 0.1093 -0.463 0.065 N 0.425 0.144 None gnomAD-4.0.0 6.66352E-04 None None None None N None 1.60009E-04 5.003E-05 None 0 2.46118E-04 None 4.37418E-04 0 8.47798E-04 0 3.36226E-04
L/S 19444 Ig-118 54 rs1239800877 0.9721 None 1.0 D 0.893 0.711 0.742624401447 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/S 19444 Ig-118 54 rs1239800877 0.9721 None 1.0 D 0.893 0.711 0.742624401447 gnomAD-4.0.0 6.57618E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47085E-05 0 0
L/H 20136 Ig-120 57 rs1060500492 0.9858 -3.055 1.0 D 0.888 0.772 0.920432766518 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
L/H 20136 Ig-120 57 rs1060500492 0.9858 -3.055 1.0 D 0.888 0.772 0.920432766518 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
L/H 20136 Ig-120 57 rs1060500492 0.9858 -3.055 1.0 D 0.888 0.772 0.920432766518 gnomAD-4.0.0 8.97353E-06 None None None None N None 0 0 None 0 0 None 0 0 1.67633E-05 0 0
F/C 20829 Ig-122 61 rs878916429 0.8326 -1.003 0.999 N 0.854 0.419 0.344945010812 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/C 20829 Ig-122 61 rs878916429 0.8326 -1.003 0.999 N 0.854 0.419 0.344945010812 gnomAD-3.1.2 3.95E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 4.41E-05 0 0
F/C 20829 Ig-122 61 rs878916429 0.8326 -1.003 0.999 N 0.854 0.419 0.344945010812 gnomAD-4.0.0 1.48758E-05 None None None None N None 5.34088E-05 0 None 0 0 None 0 0 1.69546E-05 0 0
F/L 20829 Ig-122 61 None 0.8511 None 0.76 N 0.679 0.202 0.137902524267 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 21524 Ig-124 56 rs1378663120 0.3216 -0.952 0.898 N 0.705 0.501 0.732481921647 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 1.11421E-04 None 0 None 0 0 0
L/V 21524 Ig-124 56 rs1378663120 0.3216 -0.952 0.898 N 0.705 0.501 0.732481921647 gnomAD-4.0.0 3.18443E-06 None None None None N None 0 0 None 0 5.54785E-05 None 0 0 0 0 0
L/S 21921 Ig-125 56 None 0.9752 None 0.997 D 0.845 0.855 0.85411213676 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 22319 Ig-126 55 None 0.2452 None 0.999 N 0.655 0.592 0.657603740773 gnomAD-4.0.0 1.59248E-06 None None None None N None 0 2.28718E-05 None 0 0 None 0 0 0 0 0
L/F 22608 Ig-127 49 rs749645303 0.4639 -1.491 1.0 N 0.797 0.602 0.82342218508 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02554E-05
L/V 23005 Ig-128 56 rs1196794512 0.1696 -1.078 0.09 D 0.711 0.325 0.52170519339 gnomAD-2.1.1 8.05E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 8.89E-06 0
L/V 23005 Ig-128 56 rs1196794512 0.1696 -1.078 0.09 D 0.711 0.325 0.52170519339 gnomAD-4.0.0 1.5921E-06 None None None None N None 5.66187E-05 0 None 0 0 None 0 0 0 0 0
L/S 23691 Ig-130 55 rs1358981791 0.9951 None 1.0 D 0.87 0.874 0.864153557662 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/S 23691 Ig-130 55 rs1358981791 0.9951 None 1.0 D 0.87 0.874 0.864153557662 gnomAD-4.0.0 3.71911E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08644E-06 0 0
L/P 24087 Ig-131 59 rs1371976311 0.9938 -1.715 0.997 D 0.888 0.861 0.90969009521 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 1.12082E-04 None 0 None 0 0 0
L/P 24087 Ig-131 59 rs1371976311 0.9938 -1.715 0.997 D 0.888 0.861 0.90969009521 gnomAD-4.0.0 2.74285E-06 None None None None N None 0 0 None 0 7.59071E-05 None 0 0 0 0 1.66085E-05
L/V 24087 Ig-131 59 None 0.1229 None 0.17 N 0.407 0.427 0.503124787307 gnomAD-4.0.0 1.59748E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87318E-06 0 0
L/P 24484 Ig-132 54 None 0.9983 None 0.998 D 0.891 0.83 0.831601111556 gnomAD-4.0.0 1.59241E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86049E-06 0 0
L/P 25566 Ig-135 53 rs1323717498 0.9985 -1.447 1.0 D 0.847 0.873 0.90521616659 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
L/P 25566 Ig-135 53 rs1323717498 0.9985 -1.447 1.0 D 0.847 0.873 0.90521616659 gnomAD-4.0.0 1.36888E-06 None None None None N None 0 0 None 0 2.52512E-05 None 0 0 8.99661E-07 0 0
L/V 25566 Ig-135 53 rs1332447067 0.2116 -1.081 0.999 D 0.665 0.72 0.735321164879 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.98E-05 0 None 0 None 0 0 0
L/V 25566 Ig-135 53 rs1332447067 0.2116 -1.081 0.999 D 0.665 0.72 0.735321164879 gnomAD-4.0.0 1.36889E-06 None None None None N None 0 0 None 7.6599E-05 0 None 0 0 0 0 0
L/F 25855 Ig-136 58 rs1409816119 0.3696 -1.727 1.0 N 0.815 0.646 0.674917227544 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
L/F 25855 Ig-136 58 rs1409816119 0.3696 -1.727 1.0 N 0.815 0.646 0.674917227544 gnomAD-4.0.0 1.59192E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0259E-05
L/I 26648 Ig-138 55 None 0.1664 None 0.884 D 0.445 0.421 0.586357277508 gnomAD-4.0.0 1.5915E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85878E-06 0 0
L/Q 26648 Ig-138 55 rs1302262085 0.9863 -2.206 1.0 D 0.863 0.82 0.837580165448 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
L/Q 26648 Ig-138 55 rs1302262085 0.9863 -2.206 1.0 D 0.863 0.82 0.837580165448 gnomAD-4.0.0 6.84251E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99526E-07 0 0
L/R 26648 Ig-138 55 None 0.9869 None 1.0 D 0.86 0.825 0.808672001573 gnomAD-4.0.0 1.3685E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79905E-06 0 0
L/F 28415 Ig-143 58 None 0.452 None 0.978 N 0.785 0.501 0.675152924593 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 28810 Ig-144 56 None 0.1406 None 0.248 N 0.39 0.333 0.56731557318 gnomAD-4.0.0 2.06226E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70698E-06 0 0
I/V 29102 Ig-145 58 rs1396193875 0.0838 -1.469 0.011 N 0.226 0.063 0.215869574891 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
I/V 29102 Ig-145 58 rs1396193875 0.0838 -1.469 0.011 N 0.226 0.063 0.215869574891 gnomAD-4.0.0 1.591E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85776E-06 0 0
I/T 29498 Ig-146 55 rs762766139 0.9156 -3.044 0.062 N 0.741 0.319 0.431490205687 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
I/T 29498 Ig-146 55 rs762766139 0.9156 -3.044 0.062 N 0.741 0.319 0.431490205687 gnomAD-4.0.0 2.73696E-06 None None None None N None 0 0 None 0 2.52525E-05 None 0 0 2.69835E-06 0 0
I/V 29498 Ig-146 55 rs1559235133 0.0809 None None N 0.236 0.065 0.185906805712 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
I/V 29498 Ig-146 55 rs1559235133 0.0809 None None N 0.236 0.065 0.185906805712 gnomAD-4.0.0 3.18286E-06 None None None None N None 0 0 None 0 2.78009E-05 None 0 0 0 1.43283E-05 0
L/F 29897 Ig-147 56 rs180798672 0.506 -1.546 0.997 N 0.812 0.65 None gnomAD-2.1.1 2.01E-05 None None None None N None 0 1.15882E-04 None 0 0 None 0 None 0 8.87E-06 0
L/F 29897 Ig-147 56 rs180798672 0.506 -1.546 0.997 N 0.812 0.65 None gnomAD-3.1.2 1.97E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 2.94E-05 0 0
L/F 29897 Ig-147 56 rs180798672 0.506 -1.546 0.997 N 0.812 0.65 None 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
L/F 29897 Ig-147 56 rs180798672 0.506 -1.546 0.997 N 0.812 0.65 None gnomAD-4.0.0 1.11535E-05 None None None None N None 0 6.66422E-05 None 0 0 None 0 0 1.18662E-05 0 0
L/F 30189 Ig-148 58 None 0.2314 None 0.003 N 0.393 0.313 0.463157528383 gnomAD-4.0.0 6.88953E-07 None None None None N None 0 0 None 0 0 None 0 0 9.02485E-07 0 0
L/P 30981 Ig-150 55 None 0.999 None 1.0 D 0.847 0.86 0.912582988975 gnomAD-4.0.0 7.52609E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89403E-06 0 0
L/Q 31273 Ig-151 56 None 0.9709 None 1.0 D 0.854 0.695 0.86173524933 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
L/V 31273 Ig-151 56 rs1697833909 0.1817 None 0.999 N 0.651 0.466 0.586144602217 gnomAD-4.0.0 3.18224E-06 None None None None N None 0 0 None 0 5.54847E-05 None 0 0 0 0 0
A/V 31673 Ig-152 53 rs200920551 0.1917 None 0.996 N 0.68 0.422 0.336892272479 gnomAD-4.0.0 4.77373E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71661E-06 0 3.02425E-05
L/Q 32070 Ig-153 54 rs748827491 0.9889 -2.419 1.0 D 0.897 0.794 0.895610212195 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/Q 32070 Ig-153 54 rs748827491 0.9889 -2.419 1.0 D 0.897 0.794 0.895610212195 gnomAD-4.0.0 1.36847E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79904E-06 0 0
L/R 32070 Ig-153 54 None 0.9923 None 1.0 D 0.895 0.815 0.891007205168 gnomAD-4.0.0 6.84236E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99522E-07 0 0
L/V 32070 Ig-153 54 None 0.3011 None 0.999 N 0.672 0.53 0.711190949314 gnomAD-4.0.0 7.95715E-06 None None None None N None 0 0 None 0 1.38635E-04 None 0 0 0 0 0
L/F 32760 Ig-155 53 rs1060500523 0.6928 -1.744 1.0 N 0.797 0.511 0.758559352513 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
L/F 32760 Ig-155 53 rs1060500523 0.6928 -1.744 1.0 N 0.797 0.511 0.758559352513 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
L/F 32760 Ig-155 53 rs1060500523 0.6928 -1.744 1.0 N 0.797 0.511 0.758559352513 gnomAD-4.0.0 3.84332E-06 None None None None N None 5.07528E-05 0 None 0 0 None 0 0 0 0 0
L/F 33653 Ig-159 58 rs1178063403 0.9168 -1.38 1.0 N 0.814 0.676 0.783665132679 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
L/F 33653 Ig-159 58 rs1178063403 0.9168 -1.38 1.0 N 0.814 0.676 0.783665132679 gnomAD-4.0.0 1.59127E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
L/I 34194 Ig-160 58 rs745744350 0.2373 -0.594 None N 0.296 0.179 0.549121438896 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
L/I 34194 Ig-160 58 rs745744350 0.2373 -0.594 None N 0.296 0.179 0.549121438896 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/I 34194 Ig-160 58 rs745744350 0.2373 -0.594 None N 0.296 0.179 0.549121438896 gnomAD-4.0.0 6.08965E-06 None None None None N None 0 0 None 0 0 None 0 0 6.02465E-06 0 3.40275E-05
L/V 34999 Ig-163 58 rs727503532 0.4371 -1.11 0.981 D 0.731 0.48 0.68047775509 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
L/V 34999 Ig-163 58 rs727503532 0.4371 -1.11 0.981 D 0.731 0.48 0.68047775509 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
L/V 34999 Ig-163 58 rs727503532 0.4371 -1.11 0.981 D 0.731 0.48 0.68047775509 gnomAD-4.0.0 3.09815E-06 None None None None N None 6.67379E-05 0 None 0 0 None 0 0 0 0 0
F/S 35186 Ig-164 58 rs758159045 0.9839 -2.957 0.739 N 0.819 0.516 0.502939388887 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
F/S 35186 Ig-164 58 rs758159045 0.9839 -2.957 0.739 N 0.819 0.516 0.502939388887 gnomAD-4.0.0 6.84138E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49696E-06 5.79656E-05 0
L/H 35344 Ig-165 59 None 0.9924 None 1.0 D 0.913 0.892 0.932259407414 gnomAD-4.0.0 1.59088E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8575E-06 0 0
L/P 35662 Ig-167 56 None 0.9977 None 1.0 N 0.902 0.742 0.88178623801 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 35759 Ig-168 58 rs1307850517 0.4062 -1.551 1.0 D 0.802 0.712 0.715330771395 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
L/F 35759 Ig-168 58 rs1307850517 0.4062 -1.551 1.0 D 0.802 0.712 0.715330771395 gnomAD-4.0.0 1.59099E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
L/P 35956 Ig-169 60 rs267607156 0.999 -1.745 1.0 D 0.895 0.788 0.873153760803 Hackman (2002) Rudloff (2015) None TMD LGMD2J het None -0.747(OBSL1) -0.71(OBSCN) N Genetic analysis of single FRA family; co-segregates within family (n = 3, 3 affected (7 total)); Severe misfolding of domain; eliminates binding to OBSCN-Ig1; low expression; monomeric None None None None None None None None None None None

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.