Structural position:

  • Domain Type: Ig
  • Aligned Position: 136
  • 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
A/T 63 Ig-1 58 rs764892312 0.5879 -1.307 1.0 N 0.717 0.393 None gnomAD-2.1.1 3.54E-05 None None None -0.843(TCAP) N None 0 0 None 0 3.51441E-04 None 0 None 0 2.32E-05 0
A/T 63 Ig-1 58 rs764892312 0.5879 -1.307 1.0 N 0.717 0.393 None gnomAD-3.1.2 1.32E-05 None None None -0.843(TCAP) N None 0 6.55E-05 0 0 0 None 0 0 1.47E-05 0 0
A/T 63 Ig-1 58 rs764892312 0.5879 -1.307 1.0 N 0.717 0.393 None gnomAD-4.0.0 2.29267E-05 None None None -0.843(TCAP) N None 0 5.00133E-05 None 0 2.00606E-04 None 0 0 1.94915E-05 1.09803E-05 1.60046E-05
A/V 63 Ig-1 58 rs761823259 0.543 0.548 1.0 N 0.615 0.399 0.297718772494 gnomAD-2.1.1 3.98E-06 None None None -0.787(TCAP) N None 0 0 None 0 0 None 0 None 4.62E-05 0 0
Y/C 159 Ig-2 56 rs765935940 0.6805 -1.933 0.996 N 0.797 0.678 0.636279831468 gnomAD-2.1.1 7.95E-06 None None None -0.871(TCAP) N None 0 0 None 0 0 None 6.53E-05 None 0 0 0
Y/C 159 Ig-2 56 rs765935940 0.6805 -1.933 0.996 N 0.797 0.678 0.636279831468 gnomAD-4.0.0 2.73623E-06 None None None -0.871(TCAP) N None 0 0 None 0 0 None 0 0 0 4.63725E-05 0
A/G 998 Ig-3 56 rs776232888 0.5256 -1.798 0.989 N 0.652 0.401 0.380052290102 gnomAD-2.1.1 7.97E-06 None None None None N None 1.23077E-04 0 None 0 0 None 0 None 0 0 0
A/G 998 Ig-3 56 rs776232888 0.5256 -1.798 0.989 N 0.652 0.401 0.380052290102 gnomAD-3.1.2 3.94E-05 None None None None N None 1.44816E-04 0 0 0 0 None 0 0 0 0 0
A/G 998 Ig-3 56 rs776232888 0.5256 -1.798 0.989 N 0.652 0.401 0.380052290102 gnomAD-4.0.0 6.8149E-06 None None None None N None 1.33276E-04 0 None 0 0 None 0 0 0 1.09794E-05 0
A/P 998 Ig-3 56 None 0.9824 None 0.999 N 0.868 0.533 0.491660673884 gnomAD-4.0.0 6.84076E-07 None None None None N None 0 0 None 0 0 None 0 1.7337E-04 0 0 0
A/S 998 Ig-3 56 None 0.424 None 0.989 N 0.663 0.368 0.316494231283 gnomAD-4.0.0 2.05223E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69791E-06 0 0
A/V 998 Ig-3 56 rs776232888 0.798 0.138 0.235 N 0.481 0.366 0.427713192076 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.63452E-04
A/V 998 Ig-3 56 rs776232888 0.798 0.138 0.235 N 0.481 0.366 0.427713192076 gnomAD-4.0.0 1.36816E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.15931E-05 1.65585E-05
Q/H 1513 Ig-6 57 None 0.7454 None 0.999 N 0.789 0.377 0.318828661733 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
Q/R 1513 Ig-6 57 rs1387578127 0.6061 -0.57 0.997 N 0.64 0.509 0.347659731818 gnomAD-2.1.1 1.2E-05 None None None None I None 0 8.69E-05 None 0 0 None 0 None 0 0 0
Q/R 1513 Ig-6 57 rs1387578127 0.6061 -0.57 0.997 N 0.64 0.509 0.347659731818 gnomAD-4.0.0 6.36444E-06 None None None None I None 0 9.14997E-05 None 0 0 None 0 0 0 0 0
A/G 1613 Ig-7 58 rs946583596 0.3228 None 0.996 N 0.648 0.36 0.144782658237 gnomAD-4.0.0 2.73656E-06 None None None None N None 0 0 None 0 0 None 0 0 3.5973E-06 0 0
A/P 1613 Ig-7 58 rs757349504 0.9916 None 0.999 N 0.853 0.37 0.184867976434 gnomAD-4.0.0 6.84131E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99321E-07 0 0
A/T 1613 Ig-7 58 rs757349504 0.2143 -1.053 0.992 N 0.668 0.309 0.132336055621 gnomAD-2.1.1 1.6E-05 None None None None N None 0 0 None 0 1.09075E-04 None 0 None 0 1.77E-05 0
A/T 1613 Ig-7 58 rs757349504 0.2143 -1.053 0.992 N 0.668 0.309 0.132336055621 gnomAD-4.0.0 8.89371E-06 None None None None N None 0 0 None 0 5.04185E-05 None 0 0 8.99321E-06 0 1.65601E-05
C/F 1760 Ig-8 58 None 0.914 None 1.0 N 0.905 0.631 0.80913631051 gnomAD-4.0.0 6.8421E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65585E-05
C/Y 1760 Ig-8 58 None 0.972 None 1.0 N 0.902 0.623 0.715887026869 gnomAD-4.0.0 6.8421E-07 None None None None I None 0 2.23634E-05 None 0 0 None 0 0 0 0 0
H/P 1895 Ig-9 55 rs766694270 0.8629 -1.057 0.912 D 0.74 0.503 0.520267005839 gnomAD-2.1.1 2.79E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.29E-05 1.63239E-04
H/P 1895 Ig-9 55 rs766694270 0.8629 -1.057 0.912 D 0.74 0.503 0.520267005839 gnomAD-4.0.0 1.11337E-05 None None None None N None 0 0 None 0 0 None 0 0 1.42833E-05 0 6.04303E-05
H/Y 1895 Ig-9 55 rs794729577 0.0718 0.661 None N 0.341 0.155 0.254244900254 gnomAD-2.1.1 7.97E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 8.82E-06 0
H/Y 1895 Ig-9 55 rs794729577 0.0718 0.661 None N 0.341 0.155 0.254244900254 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
H/Y 1895 Ig-9 55 rs794729577 0.0718 0.661 None N 0.341 0.155 0.254244900254 gnomAD-4.0.0 1.23917E-05 None None None None N None 1.33486E-05 0 None 0 0 None 0 0 1.61017E-05 0 0
H/Y 2229 Ig-11 56 rs56851316 0.3246 0.538 0.999 D 0.635 0.574 0.484329738948 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
H/Y 2229 Ig-11 56 rs56851316 0.3246 0.538 0.999 D 0.635 0.574 0.484329738948 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92382E-04 None 0 0 0 0 0
H/Y 2229 Ig-11 56 rs56851316 0.3246 0.538 0.999 D 0.635 0.574 0.484329738948 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
H/Y 2229 Ig-11 56 rs56851316 0.3246 0.538 0.999 D 0.635 0.574 0.484329738948 gnomAD-4.0.0 2.56119E-06 None None None None N None 0 0 None 0 4.85366E-05 None 0 0 0 0 0
Q/K 2321 Ig-12 55 None 0.2007 None 0.454 N 0.603 0.349 0.117506650769 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
H/R 2410 Ig-13 55 rs747828487 0.4463 -1.117 0.98 N 0.675 0.745 0.500678981321 gnomAD-2.1.1 7.97E-06 None None None None N None 0 0 None 0 0 None 6.53E-05 None 0 0 0
H/R 2410 Ig-13 55 rs747828487 0.4463 -1.117 0.98 N 0.675 0.745 0.500678981321 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
H/R 2410 Ig-13 55 rs747828487 0.4463 -1.117 0.98 N 0.675 0.745 0.500678981321 gnomAD-4.0.0 4.96938E-06 None None None None N None 0 0 None 0 0 None 0 0 8.49933E-07 6.59355E-05 1.60431E-05
Q/R 2500 Ig-14 56 rs1417536595 0.5524 -0.624 0.997 N 0.631 0.416 0.124217242631 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
Q/R 2500 Ig-14 56 rs1417536595 0.5524 -0.624 0.997 N 0.631 0.416 0.124217242631 gnomAD-4.0.0 1.59066E-06 None None None None N None 5.65355E-05 0 None 0 0 None 0 0 0 0 0
Y/C 2587 Ig-15 55 rs375047082 0.2394 -0.818 1.0 N 0.776 0.562 None gnomAD-2.1.1 1.2E-05 None None None None N None 1.24719E-04 0 None 0 0 None 3.27E-05 None 0 0 0
Y/C 2587 Ig-15 55 rs375047082 0.2394 -0.818 1.0 N 0.776 0.562 None gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 6.55E-05 0 0 0 None 0 0 0 0 0
Y/C 2587 Ig-15 55 rs375047082 0.2394 -0.818 1.0 N 0.776 0.562 None gnomAD-4.0.0 5.57716E-06 None None None None N None 2.66987E-05 1.66806E-05 None 0 0 None 0 0 2.54256E-06 2.19669E-05 1.60077E-05
R/T 2674 Ig-16 54 rs542196734 0.7329 -2.281 1.0 D 0.753 0.468 0.714579403 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
R/T 2674 Ig-16 54 rs542196734 0.7329 -2.281 1.0 D 0.753 0.468 0.714579403 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
R/T 2674 Ig-16 54 rs542196734 0.7329 -2.281 1.0 D 0.753 0.468 0.714579403 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
R/T 2674 Ig-16 54 rs542196734 0.7329 -2.281 1.0 D 0.753 0.468 0.714579403 gnomAD-4.0.0 6.5684E-06 None None None None N None 0 6.5368E-05 None 0 0 None 0 0 0 0 0
Y/C 2762 Ig-17 56 rs1553995474 0.1186 None 0.993 N 0.695 0.753 0.728573421076 gnomAD-4.0.0 3.18101E-06 None None None None N None 5.65163E-05 0 None 0 0 None 0 0 2.85649E-06 0 0
Y/H 2762 Ig-17 56 None 0.0984 None 0.001 N 0.312 0.389 0.321951552304 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
H/N 2849 Ig-18 55 None 0.7487 None 0.999 D 0.613 0.456 0.213573922156 gnomAD-4.0.0 1.59046E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85647E-06 0 0
H/Q 2849 Ig-18 55 rs2091263013 0.8084 None 1.0 N 0.754 0.269 0.199424873507 gnomAD-4.0.0 1.59045E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
H/R 2936 Ig-19 55 rs548456466 0.9329 -1.46 1.0 N 0.692 0.641 0.40146981186 gnomAD-2.1.1 7.97E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 4.62E-05 0 0
H/R 2936 Ig-19 55 rs548456466 0.9329 -1.46 1.0 N 0.692 0.641 0.40146981186 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
H/R 3023 Ig-20 55 None 0.8586 None 1.0 N 0.699 0.5 0.162503812791 gnomAD-4.0.0 1.59059E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85649E-06 0 0
H/Y 3023 Ig-20 55 rs763992518 0.5685 0.253 0.999 N 0.622 0.502 0.229924730088 gnomAD-2.1.1 2.83E-05 None None None None N None 0 1.97662E-04 None 0 0 None 0 None 0 0 1.38504E-04
H/Y 3023 Ig-20 55 rs763992518 0.5685 0.253 0.999 N 0.622 0.502 0.229924730088 gnomAD-4.0.0 1.43153E-05 None None None None N None 0 2.05799E-04 None 0 0 None 0 0 0 0 0
H/L 3112 Ig-21 55 rs1381688014 0.7224 -0.379 1.0 D 0.801 0.783 0.83770713637 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 4.62E-05 0 0
H/L 3112 Ig-21 55 rs1381688014 0.7224 -0.379 1.0 D 0.801 0.783 0.83770713637 gnomAD-4.0.0 1.59061E-06 None None None None N None 0 0 None 0 0 None 1.88196E-05 0 0 0 0
H/Y 3112 Ig-21 55 None 0.4734 None 0.999 D 0.601 0.648 0.526232973257 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
H/Q 3203 Ig-22 57 rs779624746 0.9763 -1.29 1.0 D 0.751 0.498 0.552822141497 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
H/Q 3203 Ig-22 57 rs779624746 0.9763 -1.29 1.0 D 0.751 0.498 0.552822141497 gnomAD-4.0.0 6.84082E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15931E-05 0
H/Y 3203 Ig-22 57 rs753075855 0.8862 0.157 0.999 D 0.648 0.541 0.462287137294 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
H/Y 3203 Ig-22 57 rs753075855 0.8862 0.157 0.999 D 0.648 0.541 0.462287137294 gnomAD-4.0.0 1.3682E-06 None None None None N None 2.98704E-05 0 None 0 0 None 0 0 8.99331E-07 0 0
Y/C 3294 Ig-23 56 None 0.5206 None 1.0 N 0.753 0.575 0.636119361578 gnomAD-4.0.0 2.40066E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62502E-06 0 0
A/T 3522 Ig-25 58 rs794729587 0.4223 None None None None 0.223 None gnomAD-4.0.0 4.10523E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49736E-06 0 1.65651E-05
Q/H 3715 Ig-26 56 None 0.1814 None None None None 0.043 None gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
Q/P 3715 Ig-26 56 None 0.4845 None None None None 0.058 None gnomAD-4.0.0 1.59117E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85811E-06 0 0
Q/R 3715 Ig-26 56 rs912850872 0.1234 None None None None 0.071 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
Q/R 3715 Ig-26 56 rs912850872 0.1234 None None None None 0.071 None gnomAD-4.0.0 6.56978E-06 None None None None N None 2.41173E-05 0 None 0 0 None 0 0 0 0 0
H/R 3875 Ig-27 56 None 0.2008 None 0.055 N 0.664 0.113 None gnomAD-4.0.0 1.59122E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85814E-06 0 0
Y/C 4659 Ig-29 54 rs34706803 0.1913 -2.351 1.0 N 0.768 0.506 None gnomAD-2.1.1 1.3346E-03 None None None None N None 4.14E-05 0 None 3.17663E-02 0 None 0 None 0 2.8297E-04 1.56206E-03
Y/C 4659 Ig-29 54 rs34706803 0.1913 -2.351 1.0 N 0.768 0.506 None gnomAD-3.1.2 7.88302E-04 None None None None N None 2.41E-05 1.3089E-04 0 2.76498E-02 0 None 0 0 2.64558E-04 0 1.43267E-03
Y/C 4659 Ig-29 54 rs34706803 0.1913 -2.351 1.0 N 0.768 0.506 None gnomAD-4.0.0 8.09016E-04 None None None None N None 2.67322E-05 5.01672E-05 None 3.34783E-02 0 None 0 0 1.42885E-04 0 2.2983E-03
Y/H 4659 Ig-29 54 rs779449934 0.199 -1.841 0.997 N 0.747 0.31 None gnomAD-2.1.1 8.11E-06 None None None None N None 0 2.92E-05 None 0 0 None 3.31E-05 None 0 0 0
Y/H 4659 Ig-29 54 rs779449934 0.199 -1.841 0.997 N 0.747 0.31 None gnomAD-4.0.0 3.43391E-06 None None None None N None 0 2.24628E-05 None 0 0 None 0 0 0 4.65929E-05 0
S/C 4755 Ig-30 56 rs767410813 0.1927 -0.427 0.931 N 0.773 0.377 0.302459207581 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
S/C 4755 Ig-30 56 rs767410813 0.1927 -0.427 0.931 N 0.773 0.377 0.302459207581 gnomAD-4.0.0 2.05274E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.47818E-05 0
S/F 4755 Ig-30 56 None 0.7251 None 0.781 N 0.805 0.411 0.438383285633 gnomAD-4.0.0 6.84245E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99473E-07 0 0
H/L 4850 Ig-31 56 rs760092355 0.3419 -0.521 0.92 N 0.756 0.29 0.318828661733 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
H/L 4850 Ig-31 56 rs760092355 0.3419 -0.521 0.92 N 0.756 0.29 0.318828661733 gnomAD-4.0.0 2.73675E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.63725E-05 0
H/R 4850 Ig-31 56 None 0.296 None 0.959 N 0.738 0.323 0.195762928549 gnomAD-4.0.0 1.36838E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31863E-05 0
H/Y 4850 Ig-31 56 None 0.1659 None 0.061 N 0.356 0.284 0.136095386433 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
A/E 4943 Ig-32 56 rs540497678 0.899 -2.63 1.0 D 0.807 0.325 0.420939154896 gnomAD-2.1.1 7.65E-05 None None None None N None 0 0 None 0 0 None 6.21362E-04 None 0 0 0
A/E 4943 Ig-32 56 rs540497678 0.899 -2.63 1.0 D 0.807 0.325 0.420939154896 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 0 0 8.29531E-04 0
A/E 4943 Ig-32 56 rs540497678 0.899 -2.63 1.0 D 0.807 0.325 0.420939154896 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
A/E 4943 Ig-32 56 rs540497678 0.899 -2.63 1.0 D 0.807 0.325 0.420939154896 gnomAD-4.0.0 3.5944E-05 None None None None N None 0 0 None 0 0 None 0 0 8.47643E-07 6.25961E-04 0
A/G 4943 Ig-32 56 rs540497678 0.2437 -1.719 0.999 N 0.642 0.318 0.281381271821 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
A/T 4943 Ig-32 56 rs2081309584 0.2049 None 0.996 N 0.66 0.298 0.289474373501 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/T 4943 Ig-32 56 rs2081309584 0.2049 None 0.996 N 0.66 0.298 0.289474373501 gnomAD-4.0.0 3.84427E-06 None None None None N None 0 0 None 0 0 None 0 0 7.17958E-06 0 0
A/V 5037 Ig-33 57 rs2081160946 0.4292 None 1.0 N 0.634 0.364 0.363944505237 gnomAD-4.0.0 1.32035E-05 None None None None N None 0 0 None 0 0 None 0 0 1.44375E-05 0 0
V/G 5130 Ig-34 56 rs1348139013 0.2388 -2.854 0.669 N 0.779 0.396 0.810562656005 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 1.65948E-04
V/G 5130 Ig-34 56 rs1348139013 0.2388 -2.854 0.669 N 0.779 0.396 0.810562656005 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/G 5130 Ig-34 56 rs1348139013 0.2388 -2.854 0.669 N 0.779 0.396 0.810562656005 gnomAD-4.0.0 3.71817E-06 None None None None N None 0 0 None 0 0 None 0 0 5.0857E-06 0 0
V/L 5130 Ig-34 56 None 0.1439 None 0.005 N 0.427 0.115 0.38225645794 gnomAD-4.0.0 1.59146E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85863E-06 0 0
V/M 5130 Ig-34 56 rs765530283 0.1614 -0.437 0.934 N 0.755 0.225 0.518641613453 gnomAD-2.1.1 8.05E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 8.89E-06 0
V/M 5130 Ig-34 56 rs765530283 0.1614 -0.437 0.934 N 0.755 0.225 0.518641613453 gnomAD-3.1.2 1.97E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 1.47E-05 0 4.78927E-04
V/M 5130 Ig-34 56 rs765530283 0.1614 -0.437 0.934 N 0.755 0.225 0.518641613453 gnomAD-4.0.0 1.15306E-05 None None None None N None 0 6.7792E-05 None 0 0 None 0 0 9.57272E-06 0 2.84463E-05
A/S 5223 Ig-35 56 rs749315462 0.237 None 0.698 N 0.637 0.176 0.300110245524 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
A/T 5223 Ig-35 56 rs749315462 0.2581 -1.078 0.032 D 0.484 0.219 0.341934017632 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.65563E-04
A/V 5316 Ig-36 56 rs879242937 0.3528 0.903 0.996 N 0.647 0.311 None gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
A/V 5316 Ig-36 56 rs879242937 0.3528 0.903 0.996 N 0.647 0.311 None gnomAD-3.1.2 3.29E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 5.88E-05 0 0
A/V 5316 Ig-36 56 rs879242937 0.3528 0.903 0.996 N 0.647 0.311 None gnomAD-4.0.0 2.78862E-05 None None None None N None 1.33476E-05 0 None 0 0 None 0 0 3.47515E-05 0 4.80369E-05
A/G 5412 Ig-37 56 rs1282477272 0.3125 -1.728 1.0 N 0.602 0.403 0.221019684889 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
A/G 5412 Ig-37 56 rs1282477272 0.3125 -1.728 1.0 N 0.602 0.403 0.221019684889 gnomAD-4.0.0 2.73727E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59801E-06 0 0
A/T 5412 Ig-37 56 rs727504442 0.2892 -1.517 1.0 N 0.724 0.359 0.221734844693 gnomAD-2.1.1 1.21E-05 None None None None N None 1.29266E-04 2.91E-05 None 0 0 None 0 None 0 0 0
A/T 5412 Ig-37 56 rs727504442 0.2892 -1.517 1.0 N 0.724 0.359 0.221734844693 gnomAD-3.1.2 3.29E-05 None None None None N None 1.20645E-04 0 0 0 0 None 0 0 0 0 0
A/T 5412 Ig-37 56 rs727504442 0.2892 -1.517 1.0 N 0.724 0.359 0.221734844693 gnomAD-4.0.0 4.95824E-06 None None None None N None 8.0094E-05 1.66772E-05 None 0 0 None 0 0 8.47633E-07 0 0
S/N 5505 Ig-38 56 rs2080739721 0.4716 None 0.999 N 0.645 0.304 0.156986980423 gnomAD-4.0.0 1.59157E-06 None None None None N None 5.65355E-05 0 None 0 0 None 0 0 0 0 0
A/V 5599 Ig-39 57 rs1194013551 0.38 None 0.996 N 0.628 0.31 0.343788945184 gnomAD-4.0.0 3.1825E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86566E-05 0
V/A 5692 Ig-40 56 rs570039271 0.2377 -1.957 0.022 N 0.431 0.132 0.373537453441 gnomAD-2.1.1 8.04E-05 None None None None N None 0 0 None 0 5.57E-05 None 5.88274E-04 None 0 8.89E-06 0
V/A 5692 Ig-40 56 rs570039271 0.2377 -1.957 0.022 N 0.431 0.132 0.373537453441 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07727E-04 0
V/A 5692 Ig-40 56 rs570039271 0.2377 -1.957 0.022 N 0.431 0.132 0.373537453441 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
V/A 5692 Ig-40 56 rs570039271 0.2377 -1.957 0.022 N 0.431 0.132 0.373537453441 gnomAD-4.0.0 2.23075E-05 None None None None N None 0 0 None 0 2.22886E-05 None 0 0 8.47627E-07 3.51393E-04 3.20102E-05
A/D 5785 Ig-41 56 rs1193275554 0.9952 None 1.0 N 0.874 0.367 0.530109961917 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
A/D 5785 Ig-41 56 rs1193275554 0.9952 None 1.0 N 0.874 0.367 0.530109961917 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 2.28697E-05 None 0 0 None 0 0 0 0 0
A/V 5785 Ig-41 56 None 0.3956 None 0.884 N 0.463 0.241 0.359963025489 gnomAD-4.0.0 1.59124E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85817E-06 0 0
S/L 5878 Ig-42 56 None 0.3407 None 1.0 N 0.789 0.377 0.557637382247 gnomAD-4.0.0 1.59153E-06 None None None None N None 0 0 None 0 2.77316E-05 None 0 0 0 0 0
S/P 5878 Ig-42 56 None 0.9461 None 1.0 N 0.835 0.377 0.243398259712 gnomAD-4.0.0 1.59154E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85881E-06 0 0
A/S 5974 Ig-43 56 rs761789723 0.3938 -1.556 1.0 N 0.599 0.301 0.228597637076 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
T/I 6067 Ig-44 56 None 0.2209 None 0.896 N 0.812 0.112 0.236890367714 gnomAD-4.0.0 1.59199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85905E-06 0 0
A/P 6161 Ig-45 57 None 0.8973 None 1.0 N 0.824 0.444 0.589695452637 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
A/T 6440 Ig-48 56 rs1484285596 0.5332 None 0.885 N 0.632 0.128 0.181679512989 gnomAD-4.0.0 2.73792E-06 None None None None N None 0 0 None 0 0 None 0 0 3.5986E-06 0 0
V/A 6536 Ig-49 56 rs1344640559 0.2779 -2.202 0.006 N 0.421 0.095 0.167679373172 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
V/A 6536 Ig-49 56 rs1344640559 0.2779 -2.202 0.006 N 0.421 0.095 0.167679373172 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
V/A 6536 Ig-49 56 rs1344640559 0.2779 -2.202 0.006 N 0.421 0.095 0.167679373172 gnomAD-4.0.0 6.57324E-06 None None None None N None 2.41301E-05 0 None 0 0 None 0 0 0 0 0
V/M 6536 Ig-49 56 None 0.1335 None 0.006 N 0.521 0.06 0.112648838833 gnomAD-4.0.0 1.5929E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86103E-06 0 0
S/G 6629 Ig-50 56 rs1484625101 0.0848 -1.507 None N 0.369 0.097 0.0666544352282 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
S/G 6629 Ig-50 56 rs1484625101 0.0848 -1.507 None N 0.369 0.097 0.0666544352282 gnomAD-4.0.0 1.59241E-06 None None None None N None 0 2.28655E-05 None 0 0 None 0 0 0 0 0
S/I 6629 Ig-50 56 rs2079601523 0.195 None 0.01 N 0.754 0.224 0.259272394797 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/I 6629 Ig-50 56 rs2079601523 0.195 None 0.01 N 0.754 0.224 0.259272394797 gnomAD-4.0.0 6.57748E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47072E-05 0 0
T/K 6816 Ig-52 56 rs1203777125 0.6873 None 0.915 N 0.783 0.31 0.344017737713 gnomAD-4.0.0 4.77777E-06 None None None None N None 0 0 None 0 8.32501E-05 None 0 0 0 0 0
A/V 6910 Ig-53 57 rs2079177597 0.1757 None 0.37 N 0.488 0.205 0.195762928549 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
A/V 6910 Ig-53 57 rs2079177597 0.1757 None 0.37 N 0.488 0.205 0.195762928549 gnomAD-4.0.0 6.57333E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.78469E-04
S/A 7003 Ig-54 56 None 0.0659 None 0.02 N 0.433 0.092 0.0666544352282 gnomAD-4.0.0 1.36862E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79915E-06 0 0
S/P 7003 Ig-54 56 None 0.9458 None 0.991 N 0.782 0.255 0.173771789658 gnomAD-4.0.0 6.84311E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99577E-07 0 0
C/Y 7099 Ig-55 56 rs2078895939 0.7772 None 0.238 N 0.638 0.199 0.485420873983 gnomAD-4.0.0 3.42161E-06 None None None None N None 0 0 None 0 2.52003E-05 None 0 0 3.59838E-06 0 0
A/T 7192 Ig-56 56 rs1212601280 0.1456 None 0.022 N 0.473 0.16 0.0884992946249 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/T 7192 Ig-56 56 rs1212601280 0.1456 None 0.022 N 0.473 0.16 0.0884992946249 gnomAD-4.0.0 7.43847E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01729E-05 0 0
A/V 7192 Ig-56 56 rs1560705548 0.2009 None 0.012 N 0.491 0.179 0.177238962908 gnomAD-4.0.0 1.59242E-06 None None None None N None 0 0 None 0 2.77716E-05 None 0 0 0 0 0
C/Y 7285 Ig-57 56 rs2154302642 0.6785 None 0.938 N 0.779 0.36 0.565902896228 gnomAD-4.0.0 3.18396E-06 None None None None N None 0 0 None 0 2.77454E-05 None 0 0 0 1.43303E-05 0
A/T 7378 Ig-58 56 rs879099986 0.4959 None 1.0 N 0.66 0.273 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
A/T 7378 Ig-58 56 rs879099986 0.4959 None 1.0 N 0.66 0.273 None gnomAD-4.0.0 9.91838E-06 None None None None N None 0 0 None 0 0 None 0 0 1.27168E-05 1.09832E-05 0
A/T 7474 Ig-59 56 rs759713604 0.5637 -1.384 1.0 N 0.721 0.455 None gnomAD-2.1.1 1.21931E-04 None None None None N None 4.14E-05 2.84E-05 None 0 0 None 2.9458E-04 None 0 1.57332E-04 4.23849E-04
A/T 7474 Ig-59 56 rs759713604 0.5637 -1.384 1.0 N 0.721 0.455 None gnomAD-3.1.2 7.24E-05 None None None None N None 2.41E-05 6.57E-05 0 0 0 None 0 0 1.32341E-04 0 0
A/T 7474 Ig-59 56 rs759713604 0.5637 -1.384 1.0 N 0.721 0.455 None gnomAD-4.0.0 2.69038E-04 None None None None N None 4.00802E-05 5.00734E-05 None 3.37998E-05 0 None 0 0 3.39109E-04 2.08672E-04 1.28156E-04
P/A 7570 Ig-60 56 None 0.0832 None 0.011 N 0.53 0.163 0.0666544352282 gnomAD-4.0.0 6.84332E-07 None None None None N None 0 0 None 0 0 None 0 1.73671E-04 0 0 0
P/H 7570 Ig-60 56 rs1444461312 0.5331 -2.167 0.999 N 0.783 0.418 0.297031009988 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
P/H 7570 Ig-60 56 rs1444461312 0.5331 -2.167 0.999 N 0.783 0.418 0.297031009988 gnomAD-4.0.0 1.59191E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
P/T 7570 Ig-60 56 None 0.1868 None 0.811 N 0.763 0.181 0.200317383148 gnomAD-4.0.0 6.84332E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99627E-07 0 0
A/S 7664 Ig-61 57 rs886042147 0.3435 None 0.997 N 0.595 0.304 0.219573609325 gnomAD-4.0.0 6.84437E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65728E-05
A/T 7664 Ig-61 57 None 0.4835 None 1.0 N 0.711 0.361 0.257292322809 gnomAD-4.0.0 6.84437E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99779E-07 0 0
A/V 7664 Ig-61 57 rs887438313 0.3946 None 1.0 N 0.627 0.363 0.391470661076 gnomAD-4.0.0 2.73776E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59912E-06 0 0
T/A 7757 Ig-62 56 rs767710865 0.0745 -1.003 None N 0.305 0.047 0.0482279557977 gnomAD-4.0.0 2.73711E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59819E-06 0 0
T/R 7757 Ig-62 56 rs2154300676 0.671 None 0.927 N 0.77 0.285 0.358540694251 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
T/R 7757 Ig-62 56 rs2154300676 0.671 None 0.927 N 0.77 0.285 0.358540694251 gnomAD-4.0.0 6.56711E-06 None None None None N None 0 6.54279E-05 None 0 0 None 0 0 0 0 0
T/S 7757 Ig-62 56 rs767710865 0.1626 None 0.002 N 0.557 0.047 0.0482279557977 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85356E-04 None 0 0 0 0 0
T/S 7757 Ig-62 56 rs767710865 0.1626 None 0.002 N 0.557 0.047 0.0482279557977 gnomAD-4.0.0 1.36331E-05 None None None None N None 0 0 None 0 4.90349E-04 None 0 0 0 0 0
A/T 7851 Ig-63 57 rs1457271874 0.2462 -1.337 0.991 N 0.474 0.253 0.185906805712 gnomAD-2.1.1 8.04E-06 None None None None N None 0 5.79E-05 None 0 0 None 0 None 0 0 0
A/T 7851 Ig-63 57 rs1457271874 0.2462 -1.337 0.991 N 0.474 0.253 0.185906805712 gnomAD-4.0.0 4.77436E-06 None None None None N None 0 6.85965E-05 None 0 0 None 0 0 0 0 0
A/V 7851 Ig-63 57 rs761381617 0.2025 0.567 0.949 N 0.479 0.201 0.292787519742 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
A/V 7851 Ig-63 57 rs761381617 0.2025 0.567 0.949 N 0.479 0.201 0.292787519742 gnomAD-4.0.0 2.73699E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69856E-06 0 1.65678E-05
A/P 7944 Ig-64 56 None 0.9683 None 0.984 N 0.782 0.309 0.236278675362 gnomAD-4.0.0 1.59137E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
C/R 8040 Ig-65 56 None 0.8954 None 0.994 N 0.806 0.427 0.676054667023 gnomAD-4.0.0 6.84202E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99478E-07 0 0
C/S 8040 Ig-65 56 rs1398583484 0.4888 -1.956 0.99 N 0.72 0.409 0.48087575253 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
C/S 8040 Ig-65 56 rs1398583484 0.4888 -1.956 0.99 N 0.72 0.409 0.48087575253 gnomAD-4.0.0 6.84202E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
C/Y 8040 Ig-65 56 None 0.6889 None 0.994 N 0.757 0.362 0.509286489854 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/A 8133 Ig-66 56 rs2077893682 0.0659 None None N 0.317 0.051 0.0482279557977 gnomAD-4.0.0 1.59126E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85837E-06 0 0
T/I 8133 Ig-66 56 rs765991142 0.3309 0.057 0.09 N 0.702 0.169 0.221734844693 gnomAD-2.1.1 3.22E-05 None None None None N None 6.46E-05 0 None 0 3.9019E-04 None 0 None 0 0 0
T/I 8133 Ig-66 56 rs765991142 0.3309 0.057 0.09 N 0.702 0.169 0.221734844693 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
T/I 8133 Ig-66 56 rs765991142 0.3309 0.057 0.09 N 0.702 0.169 0.221734844693 gnomAD-4.0.0 3.71826E-06 None None None None N None 4.00513E-05 0 None 0 4.45712E-05 None 0 0 0 0 1.60113E-05
T/R 8133 Ig-66 56 rs765991142 0.5195 -0.626 0.627 N 0.779 0.212 0.357929162469 gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 0 None 2.94118E-04 None 0 0 0
T/R 8133 Ig-66 56 rs765991142 0.5195 -0.626 0.627 N 0.779 0.212 0.357929162469 gnomAD-4.0.0 1.36843E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.31868E-04 0
T/A 8226 Ig-67 56 None 0.058 None None N 0.336 0.048 0.0666544352282 gnomAD-4.0.0 1.59136E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85855E-06 0 0
T/I 8226 Ig-67 56 rs1391244402 0.2974 0.675 0.055 N 0.718 0.096 0.128392430309 gnomAD-2.1.1 1.21E-05 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 1.65893E-04
T/I 8226 Ig-67 56 rs1391244402 0.2974 0.675 0.055 N 0.718 0.096 0.128392430309 gnomAD-3.1.2 3.94E-05 None None None None N None 0 3.93133E-04 0 0 0 None 0 0 0 0 0
T/I 8226 Ig-67 56 rs1391244402 0.2974 0.675 0.055 N 0.718 0.096 0.128392430309 gnomAD-4.0.0 1.15313E-05 None None None None N None 0 1.52563E-04 None 0 0 None 0 0 0 0 0
T/N 8226 Ig-67 56 None 0.3262 -1.469 0.029 N 0.562 0.074 0.119812018005 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
T/N 8226 Ig-67 56 None 0.3262 -1.469 0.029 N 0.562 0.074 0.119812018005 gnomAD-4.0.0 6.36551E-06 None None None None N None 0 0 None 0 0 None 0 0 0 5.73115E-05 0
A/P 8319 Ig-68 56 None 0.9814 None 0.982 N 0.503 0.426 0.479056812784 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
A/T 8319 Ig-68 56 rs2077763797 0.609 None 1.0 D 0.685 0.375 0.463157528383 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
A/T 8319 Ig-68 56 rs2077763797 0.609 None 1.0 D 0.685 0.375 0.463157528383 gnomAD-4.0.0 6.57263E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07125E-04 0
A/V 8319 Ig-68 56 None 0.5089 None 0.998 N 0.679 0.377 0.649000688064 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
A/T 8605 Ig-71 57 None 0.5346 None 1.0 N 0.709 0.353 0.212008924253 gnomAD-4.0.0 1.59158E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8591E-06 0 0
T/S 8698 Ig-72 56 rs751582645 0.127 -1.713 None N 0.439 0.089 0.104622674875 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
T/S 8698 Ig-72 56 rs751582645 0.127 -1.713 None N 0.439 0.089 0.104622674875 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
A/E 8792 Ig-73 57 rs761198294 0.8414 -2.074 0.999 N 0.798 0.24 0.323342291347 gnomAD-2.1.1 4.03E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
A/E 8792 Ig-73 57 rs761198294 0.8414 -2.074 0.999 N 0.798 0.24 0.323342291347 gnomAD-3.1.2 2.63E-05 None None None None N None 7.24E-05 6.55E-05 0 0 0 None 0 0 0 0 0
A/E 8792 Ig-73 57 rs761198294 0.8414 -2.074 0.999 N 0.798 0.24 0.323342291347 gnomAD-4.0.0 4.33802E-06 None None None None N None 6.67557E-05 1.66706E-05 None 0 0 None 0 0 0 0 1.60108E-05
A/S 8792 Ig-73 57 rs764989717 0.1724 -1.387 0.848 N 0.717 0.099 0.148003135375 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
A/S 8792 Ig-73 57 rs764989717 0.1724 -1.387 0.848 N 0.717 0.099 0.148003135375 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/S 8792 Ig-73 57 rs764989717 0.1724 -1.387 0.848 N 0.717 0.099 0.148003135375 gnomAD-4.0.0 2.5623E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78631E-06 0 0
S/A 8885 Ig-74 56 rs2077087035 0.0541 None 0.008 N 0.483 0.041 0.110078149338 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/A 8885 Ig-74 56 rs2077087035 0.0541 None 0.008 N 0.483 0.041 0.110078149338 gnomAD-4.0.0 1.8593E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54302E-06 0 0
S/C 8885 Ig-74 56 rs951646862 0.1168 None 0.986 N 0.754 0.304 0.268660756437 gnomAD-4.0.0 1.59179E-06 None None None None N None 0 0 None 0 2.77393E-05 None 0 0 0 0 0
S/F 8885 Ig-74 56 rs951646862 0.6184 None 0.949 N 0.771 0.347 0.354610295913 gnomAD-4.0.0 1.59179E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
S/P 8885 Ig-74 56 None 0.8981 None 0.949 N 0.768 0.215 0.223847106136 gnomAD-4.0.0 2.05288E-06 None None None None N None 0 0 None 0 0 None 0 0 2.6986E-06 0 0
C/Y 8981 Ig-75 56 None 0.7753 None 0.681 N 0.793 0.245 0.56524285216 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
A/E 9167 Ig-77 56 rs777165769 0.82 -2.006 0.934 N 0.76 0.206 0.301789629655 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
A/E 9167 Ig-77 56 rs777165769 0.82 -2.006 0.934 N 0.76 0.206 0.301789629655 gnomAD-4.0.0 1.59121E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
A/S 9260 Ig-78 56 rs777920428 0.3584 -1.929 1.0 N 0.597 0.3 None 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
A/S 9260 Ig-78 56 rs777920428 0.3584 -1.929 1.0 N 0.597 0.3 None gnomAD-4.0.0 6.36529E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14337E-05 0 0
A/T 9260 Ig-78 56 rs777920428 0.5189 -1.526 1.0 N 0.709 0.279 0.235038932564 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
A/V 9260 Ig-78 56 None 0.4974 None 1.0 N 0.627 0.278 0.4018988957 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 6.17284E-04 0 0 0
A/P 9356 Ig-79 56 None 0.9769 None 1.0 None 0.838 0.359 0.215109475489 gnomAD-4.0.0 3.42091E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49731E-06 0 0
A/T 9356 Ig-79 56 rs2076600862 0.4917 None 0.996 None 0.653 0.293 0.176091768786 gnomAD-4.0.0 2.05255E-06 None None None None N None 0 2.23614E-05 None 0 0 None 0 0 1.79892E-06 0 0
A/P 9452 Ig-80 56 rs527663092 0.4207 -0.416 0.013 None 0.518 0.211 0.215869574891 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.55E-05 0
A/P 9452 Ig-80 56 rs527663092 0.4207 -0.416 0.013 None 0.518 0.211 0.215869574891 gnomAD-4.0.0 8.89436E-06 None None None None N None 0 0 None 0 0 None 0 0 1.16926E-05 0 0
A/T 9452 Ig-80 56 rs527663092 0.1599 -1.404 0.233 None 0.548 0.156 None gnomAD-2.1.1 6.02E-05 None None None None N None 1.29166E-04 0 None 0 0 None 3.92131E-04 None 0 0 1.65344E-04
A/T 9452 Ig-80 56 rs527663092 0.1599 -1.404 0.233 None 0.548 0.156 None gnomAD-3.1.2 7.23E-05 None None None None N None 7.25E-05 3.92773E-04 0 0 0 None 0 0 1.47E-05 2.07125E-04 0
A/T 9452 Ig-80 56 rs527663092 0.1599 -1.404 0.233 None 0.548 0.156 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
A/T 9452 Ig-80 56 rs527663092 0.1599 -1.404 0.233 None 0.548 0.156 None gnomAD-4.0.0 3.65595E-05 None None None None N None 5.33333E-05 1.83284E-04 None 0 0 None 0 0 6.78071E-06 3.95257E-04 0
L/S 9549 Ig-81 57 rs763448983 0.7561 -2.729 0.193 None 0.757 0.27 0.557286757043 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/S 9549 Ig-81 57 rs763448983 0.7561 -2.729 0.193 None 0.757 0.27 0.557286757043 gnomAD-4.0.0 1.59108E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85801E-06 0 0
L/V 9549 Ig-81 57 None 0.0758 None 0.001 None 0.438 0.093 0.0920862733494 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
H/Q 9956 Ig-84 57 None 0.9654 None 1.0 None 0.758 0.328 0.198526703765 gnomAD-4.0.0 6.84609E-07 None None None None N None 0 0 None 0 2.51953E-05 None 0 0 0 0 0
H/R 9956 Ig-84 57 rs1255328557 0.9576 -1.52 1.0 None 0.723 0.537 0.198526703765 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
H/R 9956 Ig-84 57 rs1255328557 0.9576 -1.52 1.0 None 0.723 0.537 0.198526703765 gnomAD-4.0.0 3.42306E-06 None None None None N None 0 0 None 0 7.5582E-05 None 0 0 8.99841E-07 0 1.65728E-05
H/R 10043 Ig-85 55 None 0.8765 None 0.92 None 0.753 0.357 0.166414681773 gnomAD-4.0.0 4.77262E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57251E-06 0 0
H/Y 10043 Ig-85 55 rs989692401 0.7086 0.449 0.986 None 0.727 0.363 0.248417906384 gnomAD-2.1.1 4.01E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
H/Y 10043 Ig-85 55 rs989692401 0.7086 0.449 0.986 None 0.727 0.363 0.248417906384 gnomAD-4.0.0 1.59089E-06 None None None None N None 0 2.28624E-05 None 0 0 None 0 0 0 0 0
H/L 10132 Ig-86 55 None 0.9464 None 0.942 None 0.801 0.431 0.611858120693 gnomAD-4.0.0 3.42068E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49694E-06 0 0
H/R 10132 Ig-86 55 rs1057518758 0.9372 -1.46 0.97 None 0.741 0.397 0.331365685468 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 2.87687E-04 0 0
H/R 10132 Ig-86 55 rs1057518758 0.9372 -1.46 0.97 None 0.741 0.397 0.331365685468 gnomAD-4.0.0 6.84137E-07 None None None None N None 0 0 None 0 0 None 1.87259E-05 0 0 0 0
R/G 13741 Ig-87 58 None 0.9852 None 0.805 N 0.753 0.218 0.317667799068 gnomAD-4.0.0 1.59195E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85958E-06 0 0
R/Q 13835 Ig-88 56 rs727504539 0.3205 -1.314 0.271 N 0.679 0.077 0.0716867268079 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
R/Q 13835 Ig-88 56 rs727504539 0.3205 -1.314 0.271 N 0.679 0.077 0.0716867268079 gnomAD-4.0.0 1.09506E-05 None None None None N None 0 0 None 0 0 None 0 0 1.2595E-05 1.15977E-05 1.657E-05
R/W 13835 Ig-88 56 rs886055278 0.5149 None 0.984 N 0.767 0.185 0.181679512989 gnomAD-4.0.0 1.36882E-05 None None None None N None 0 0 None 0 0 None 0 0 1.79929E-05 0 0
R/C 14019 Ig-90 55 rs763499817 0.6068 -1.838 1.0 N 0.858 0.419 0.349870743963 gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
R/C 14019 Ig-90 55 rs763499817 0.6068 -1.838 1.0 N 0.858 0.419 0.349870743963 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 1.47E-05 0 0
R/C 14019 Ig-90 55 rs763499817 0.6068 -1.838 1.0 N 0.858 0.419 0.349870743963 gnomAD-4.0.0 1.055E-05 None None None None N None 0 1.67926E-05 None 0 0 None 0 0 1.18741E-05 2.21136E-05 0
R/H 14019 Ig-90 55 rs374683153 0.4443 -2.104 1.0 N 0.785 0.405 None gnomAD-2.1.1 2.01348E-04 None None None None N None 0 0 None 0 0 None 1.70148E-03 None 0 3.14E-05 1.41283E-04
R/H 14019 Ig-90 55 rs374683153 0.4443 -2.104 1.0 N 0.785 0.405 None gnomAD-3.1.2 6.58E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 1.65975E-03 0
R/H 14019 Ig-90 55 rs374683153 0.4443 -2.104 1.0 N 0.785 0.405 None 1000 genomes 5.99042E-04 None None None None N None 0 0 None None 0 0 None None None 3.1E-03 None
R/H 14019 Ig-90 55 rs374683153 0.4443 -2.104 1.0 N 0.785 0.405 None gnomAD-4.0.0 1.27817E-04 None None None None N None 5.34388E-05 0 None 0 0 None 1.56318E-05 0 8.48129E-06 2.04461E-03 9.61754E-05
R/P 14019 Ig-90 55 rs374683153 0.9963 -1.527 1.0 N 0.846 0.482 0.292787519742 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
R/P 14019 Ig-90 55 rs374683153 0.9963 -1.527 1.0 N 0.846 0.482 0.292787519742 gnomAD-4.0.0 6.8515E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00025E-07 0 0
H/R 14196 Ig-92 55 None 0.4557 None 0.497 N 0.726 0.28 0.236278675362 gnomAD-4.0.0 6.84344E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99617E-06 0 0
R/C 14284 Ig-93 54 rs760157467 0.3406 -2.097 1.0 N 0.891 0.322 None gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 9.81E-05 None 0 8.9E-06 0
R/C 14284 Ig-93 54 rs760157467 0.3406 -2.097 1.0 N 0.891 0.322 None gnomAD-4.0.0 6.84399E-06 None None None None N None 2.98989E-05 0 None 0 2.52678E-05 None 0 0 2.69877E-06 5.79724E-05 0
R/H 14284 Ig-93 54 rs368572799 0.1694 -2.277 1.0 N 0.77 0.375 None gnomAD-2.1.1 3.93E-05 None None None None N None 1.23987E-04 0 None 0 3.61757E-04 None 0 None 0 7.82E-06 0
R/H 14284 Ig-93 54 rs368572799 0.1694 -2.277 1.0 N 0.77 0.375 None gnomAD-3.1.2 7.23E-05 None None None None N None 1.93143E-04 0 0 0 3.86399E-04 None 0 0 1.47E-05 0 0
R/H 14284 Ig-93 54 rs368572799 0.1694 -2.277 1.0 N 0.77 0.375 None gnomAD-4.0.0 3.22356E-05 None None None None N None 1.46925E-04 0 None 0 2.01135E-04 None 0 0 7.62981E-06 2.19611E-05 3.36431E-04
R/L 14284 Ig-93 54 rs368572799 0.7273 -1.0 1.0 N 0.806 0.425 0.479744053436 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
R/L 14284 Ig-93 54 rs368572799 0.7273 -1.0 1.0 N 0.806 0.425 0.479744053436 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
R/L 14284 Ig-93 54 rs368572799 0.7273 -1.0 1.0 N 0.806 0.425 0.479744053436 gnomAD-4.0.0 1.23983E-06 None None None None N None 2.67137E-05 0 None 0 0 None 0 0 0 0 0
H/N 14373 Ig-94 55 rs1216345717 0.8047 None 0.997 D 0.596 0.42 0.286081765059 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
H/N 14373 Ig-94 55 rs1216345717 0.8047 None 0.997 D 0.596 0.42 0.286081765059 gnomAD-4.0.0 6.57557E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47093E-05 0 0
H/Y 14462 Ig-95 55 None 0.1034 None 0.4 N 0.493 0.247 0.319686207203 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
R/C 14640 Ig-97 55 rs72650088 0.313 -1.68 1.0 N 0.867 0.296 None gnomAD-2.1.1 2.82E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.23E-05 0
R/C 14640 Ig-97 55 rs72650088 0.313 -1.68 1.0 N 0.867 0.296 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
R/C 14640 Ig-97 55 rs72650088 0.313 -1.68 1.0 N 0.867 0.296 None Begay (2015) Zuo (2021) None DCM comp het with E29590Q None None N WGS prioritisation; filtering with ANNOVAR; co-segregates within 2-generation family (n = 2, 2 affected (3 total)); significant destabilisation of domain (SM-AFM) None None None None None None None None None None None
R/C 14640 Ig-97 55 rs72650088 0.313 -1.68 1.0 N 0.867 0.296 None gnomAD-4.0.0 2.16969E-05 None None None None N None 0 0 None 0 2.23604E-05 None 0 0 2.7128E-05 1.0981E-05 1.60205E-05
R/H 14640 Ig-97 55 rs752141195 0.2311 -2.145 1.0 N 0.763 0.373 0.152612264143 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 9.81E-05 None 0 0 0
R/H 14640 Ig-97 55 rs752141195 0.2311 -2.145 1.0 N 0.763 0.373 0.152612264143 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/H 14640 Ig-97 55 rs752141195 0.2311 -2.145 1.0 N 0.763 0.373 0.152612264143 gnomAD-4.0.0 8.67808E-06 None None None None N None 0 1.66756E-05 None 0 2.23654E-05 None 0 0 3.39102E-06 7.68656E-05 1.60149E-05
R/L 14640 Ig-97 55 None 0.6361 None 1.0 D 0.773 0.425 0.459818148978 gnomAD-4.0.0 6.84414E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99596E-07 0 0
R/P 14640 Ig-97 55 rs752141195 0.9847 -1.481 1.0 D 0.86 0.444 0.36453787251 gnomAD-2.1.1 7.15E-06 None None None None N None 4.13E-05 0 None 0 0 None 3.27E-05 None 0 0 0
R/P 14640 Ig-97 55 rs752141195 0.9847 -1.481 1.0 D 0.86 0.444 0.36453787251 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
R/P 14640 Ig-97 55 rs752141195 0.9847 -1.481 1.0 D 0.86 0.444 0.36453787251 gnomAD-4.0.0 5.57917E-06 None None None None N None 1.33576E-05 0 None 0 0 None 0 0 2.54325E-06 3.2941E-05 3.2041E-05
H/R 14729 Ig-98 55 rs774485726 0.5138 -0.913 0.999 N 0.765 0.458 0.311079019809 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
H/R 14729 Ig-98 55 rs774485726 0.5138 -0.913 0.999 N 0.765 0.458 0.311079019809 gnomAD-4.0.0 1.37065E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80009E-06 0 0
H/Y 14729 Ig-98 55 None 0.2428 None 0.997 N 0.584 0.444 0.299770980665 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-06 0 0
H/Y 14818 Ig-99 54 None 0.2547 None 0.999 N 0.614 0.443 0.28058544554 gnomAD-4.0.0 6.97275E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.68748E-05
R/C 14996 Ig-101 55 rs765602798 0.3051 -2.079 0.999 N 0.789 0.309 0.247872288689 gnomAD-2.1.1 8.08E-06 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 8.92E-06 0
R/C 14996 Ig-101 55 rs765602798 0.3051 -2.079 0.999 N 0.789 0.309 0.247872288689 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/C 14996 Ig-101 55 rs765602798 0.3051 -2.079 0.999 N 0.789 0.309 0.247872288689 gnomAD-4.0.0 1.24086E-05 None None None None N None 0 1.67319E-05 None 0 2.24487E-05 None 0 0 1.35722E-05 2.19785E-05 0
R/H 14996 Ig-101 55 rs762128685 0.1685 -2.393 0.029 N 0.433 0.15 None gnomAD-2.1.1 2.43E-05 None None None None N None 0 2.92E-05 None 0 0 None 0 None 0 4.46E-05 0
R/H 14996 Ig-101 55 rs762128685 0.1685 -2.393 0.029 N 0.433 0.15 None gnomAD-3.1.2 2.63E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 2.94E-05 0 0
R/H 14996 Ig-101 55 rs762128685 0.1685 -2.393 0.029 N 0.433 0.15 None gnomAD-4.0.0 5.70811E-05 None None None None N None 2.67308E-05 3.34717E-05 None 0 0 None 0 1.64799E-04 7.21027E-05 0 3.20821E-05
R/L 14996 Ig-101 55 rs762128685 0.6057 -0.936 0.911 N 0.726 0.262 0.244539031024 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
R/L 14996 Ig-101 55 rs762128685 0.6057 -0.936 0.911 N 0.726 0.262 0.244539031024 gnomAD-4.0.0 4.11012E-06 None None None None N None 0 0 None 0 0 None 0 0 5.40081E-06 0 0
R/S 15085 Ig-102 55 rs749903521 0.8374 None 1.0 N 0.759 0.385 0.346992582518 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/S 15085 Ig-102 55 rs749903521 0.8374 None 1.0 N 0.759 0.385 0.346992582518 gnomAD-4.0.0 3.84987E-06 None None None None N None 5.08509E-05 0 None 0 0 None 0 0 0 0 0
R/T 15085 Ig-102 55 rs542139839 0.6506 -1.981 1.0 D 0.756 0.414 0.551051292539 gnomAD-2.1.1 1.43E-05 None None None None N None 1.65508E-04 0 None 0 0 None 0 None 0 0 0
R/T 15085 Ig-102 55 rs542139839 0.6506 -1.981 1.0 D 0.756 0.414 0.551051292539 gnomAD-3.1.2 1.98E-05 None None None None N None 7.25E-05 0 0 0 0 None 0 0 0 0 0
R/T 15085 Ig-102 55 rs542139839 0.6506 -1.981 1.0 D 0.756 0.414 0.551051292539 1000 genomes 3.99361E-04 None None None None N None 1.5E-03 0 None None 0 0 None None None 0 None
R/T 15085 Ig-102 55 rs542139839 0.6506 -1.981 1.0 D 0.756 0.414 0.551051292539 gnomAD-4.0.0 7.69841E-06 None None None None N None 8.45451E-05 0 None 0 0 None 0 0 0 0 2.84835E-05
R/G 15174 Ig-103 55 rs1237099029 0.8159 -3.075 0.994 N 0.684 0.332 0.252681307341 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
R/G 15174 Ig-103 55 rs1237099029 0.8159 -3.075 0.994 N 0.684 0.332 0.252681307341 gnomAD-4.0.0 5.47749E-06 None None None None N None 0 0 None 0 0 None 0 1.73792E-04 5.39885E-06 0 1.65865E-05
R/K 15174 Ig-103 55 rs763294408 0.2977 -1.438 0.987 N 0.609 0.27 0.251116650651 gnomAD-2.1.1 2.42E-05 None None None None N None 0 5.82E-05 None 0 0 None 0 None 0 3.57E-05 0
R/K 15174 Ig-103 55 rs763294408 0.2977 -1.438 0.987 N 0.609 0.27 0.251116650651 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/K 15174 Ig-103 55 rs763294408 0.2977 -1.438 0.987 N 0.609 0.27 0.251116650651 gnomAD-4.0.0 4.96163E-06 None None None None N None 0 3.34403E-05 None 0 0 None 0 0 5.08805E-06 0 0
R/M 15174 Ig-103 55 None 0.6671 None 1.0 D 0.73 0.36 0.307016933798 gnomAD-4.0.0 6.8469E-07 None None None None N None 0 0 None 0 2.53306E-05 None 0 0 0 0 0
Y/F 15262 Ig-104 55 rs2058153201 0.1476 None 0.031 N 0.351 0.196 0.206339911435 gnomAD-4.0.0 1.5934E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0303E-05
Y/S 15262 Ig-104 55 None 0.8879 None 0.998 N 0.804 0.521 0.459729313489 gnomAD-4.0.0 3.18679E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86673E-05 0
H/R 15445 Ig-106 55 None 0.5025 None 0.896 N 0.729 0.292 0.349429436713 gnomAD-4.0.0 1.59675E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86651E-06 0 0
H/Y 15445 Ig-106 55 rs1295193843 0.146 0.389 0.004 N 0.408 0.177 0.273938319068 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.3E-05 None 0 0 0
H/Y 15445 Ig-106 55 rs1295193843 0.146 0.389 0.004 N 0.408 0.177 0.273938319068 gnomAD-4.0.0 1.59686E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4415E-05 0
A/G 16018 Ig-109 51 rs1366008715 0.3508 -1.455 0.98 N 0.717 0.279 0.316198179892 gnomAD-2.1.1 7.17E-06 None None None None N None 8.28E-05 0 None 0 0 None 0 None 0 0 0
A/G 16018 Ig-109 51 rs1366008715 0.3508 -1.455 0.98 N 0.717 0.279 0.316198179892 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
A/G 16018 Ig-109 51 rs1366008715 0.3508 -1.455 0.98 N 0.717 0.279 0.316198179892 gnomAD-4.0.0 5.13222E-06 None None None None N None 6.78242E-05 0 None 0 0 None 0 0 0 0 0
A/S 16018 Ig-109 51 rs1451009964 0.1422 -1.351 0.925 N 0.69 0.13 0.254761474806 gnomAD-2.1.1 7.17E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
A/S 16018 Ig-109 51 rs1451009964 0.1422 -1.351 0.925 N 0.69 0.13 0.254761474806 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
A/S 16018 Ig-109 51 rs1451009964 0.1422 -1.351 0.925 N 0.69 0.13 0.254761474806 gnomAD-4.0.0 5.13181E-06 None None None None N None 6.77874E-05 0 None 0 0 None 0 0 0 0 0
S/Y 16314 Ig-110 53 rs375909143 0.957 -0.354 1.0 N 0.867 0.438 None gnomAD-2.1.1 4.04E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
A/V 17010 Ig-111 56 rs1164633775 0.187 0.423 0.001 N 0.457 0.132 0.187945064343 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/V 17010 Ig-111 56 rs1164633775 0.187 0.423 0.001 N 0.457 0.132 0.187945064343 gnomAD-4.0.0 1.59323E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43328E-05 0
S/T 17332 Ig-112 82 None 0.1343 None 0.892 N 0.667 0.098 0.144782658237 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/C 17727 Ig-113 51 rs369262757 0.1572 -0.463 1.0 N 0.749 0.376 None gnomAD-2.1.1 3.57E-05 None None None None N None 0 0 None 8.69733E-04 0 None 0 None 0 7.82E-06 0
S/C 17727 Ig-113 51 rs369262757 0.1572 -0.463 1.0 N 0.749 0.376 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 1.15207E-03 1.94628E-04 None 0 0 0 0 0
S/C 17727 Ig-113 51 rs369262757 0.1572 -0.463 1.0 N 0.749 0.376 None gnomAD-4.0.0 1.61167E-05 None None None None N None 0 0 None 7.09795E-04 2.23155E-05 None 0 0 1.69581E-06 0 3.20287E-05
C/G 18747 Ig-116 60 None 0.4916 None 1.0 N 0.819 0.478 0.609617904835 gnomAD-4.0.0 1.59293E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86125E-06 0 0
C/Y 18747 Ig-116 60 rs2052747446 0.8982 None 1.0 N 0.855 0.504 0.559961094632 gnomAD-4.0.0 1.77983E-05 None None None None N None 0 0 None 0 0 None 0 0 2.33945E-05 0 0
S/L 19146 Ig-117 52 rs1427077002 0.4696 0.074 0.959 N 0.733 0.355 0.78372721315 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
S/L 19146 Ig-117 52 rs1427077002 0.4696 0.074 0.959 N 0.733 0.355 0.78372721315 gnomAD-4.0.0 4.7771E-06 None None None None N None 0 0 None 0 0 None 3.76591E-05 0 0 1.43299E-05 0
L/P 19442 Ig-118 52 rs755527935 0.9836 -1.178 0.916 N 0.831 0.324 0.422160833541 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
L/P 19442 Ig-118 52 rs755527935 0.9836 -1.178 0.916 N 0.831 0.324 0.422160833541 gnomAD-4.0.0 1.59185E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
L/R 19442 Ig-118 52 None 0.9521 None 0.781 N 0.829 0.301 0.36036328697 gnomAD-4.0.0 1.59185E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85909E-06 0 0
S/L 20134 Ig-120 55 None 0.4234 None 0.454 N 0.72 0.431 0.428747304603 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
S/T 20134 Ig-120 55 rs904878126 0.0754 -0.148 0.007 N 0.345 0.111 0.149567049428 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.69E-05 None 0 0 None 0 None 0 0 0
S/T 20134 Ig-120 55 rs904878126 0.0754 -0.148 0.007 N 0.345 0.111 0.149567049428 gnomAD-4.0.0 4.77652E-06 None None None None N None 0 6.86028E-05 None 0 0 None 0 0 0 0 0
S/P 20827 Ig-122 59 rs1001628726 0.9871 None 0.999 N 0.77 0.44 0.273938319068 gnomAD-3.1.2 3.95E-05 None None None None N None 1.20627E-04 0 0 0 0 None 0 0 0 0 4.78927E-04
S/P 20827 Ig-122 59 rs1001628726 0.9871 None 0.999 N 0.77 0.44 0.273938319068 gnomAD-4.0.0 8.05767E-06 None None None None N None 1.20147E-04 0 None 0 0 None 0 0 1.69547E-06 1.09794E-05 1.60149E-05
A/V 21229 Ig-123 53 rs1209410552 0.2928 None 0.961 N 0.705 0.222 0.350088858571 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
A/V 21229 Ig-123 53 rs1209410552 0.2928 None 0.961 N 0.705 0.222 0.350088858571 gnomAD-4.0.0 1.02638E-05 None None None None N None 0 1.69727E-05 None 0 9.76276E-05 None 0 0 7.18522E-06 0 0
C/Y 21919 Ig-125 54 rs1403325884 0.4322 -1.82 0.512 N 0.699 0.182 0.428401797576 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.01E-06 0
T/A 22317 Ig-126 53 None 0.4477 None 0.999 N 0.639 0.477 0.204665344411 gnomAD-4.0.0 6.84426E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99672E-07 0 0
T/P 22317 Ig-126 53 None 0.9826 None 1.0 N 0.841 0.527 0.291694819147 gnomAD-4.0.0 6.84426E-07 None None None None N None 0 0 None 0 0 None 0 1.73611E-04 0 0 0
T/S 22317 Ig-126 53 None 0.3668 None 0.999 N 0.641 0.349 0.192905019026 gnomAD-4.0.0 1.59248E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43308E-05 0
T/N 23398 Ig-129 54 None 0.8644 None 0.896 N 0.693 0.297 0.225215365344 gnomAD-4.0.0 6.84825E-07 None None None None N None 2.99025E-05 0 None 0 0 None 0 0 0 0 0
T/S 23398 Ig-129 54 rs1709923349 0.2059 None 0.046 N 0.459 0.065 0.107399877778 gnomAD-4.0.0 1.36965E-06 None None None None N None 5.9805E-05 0 None 0 0 None 0 0 0 0 0
T/A 23689 Ig-130 53 rs755034022 0.1064 -1.105 0.726 N 0.621 0.172 0.119812018005 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
T/A 23689 Ig-130 53 rs755034022 0.1064 -1.105 0.726 N 0.621 0.172 0.119812018005 gnomAD-4.0.0 3.42185E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49789E-06 0 0
T/N 24085 Ig-131 57 rs1317961442 0.7094 -0.932 0.982 N 0.725 0.335 0.248417906384 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
T/N 24085 Ig-131 57 rs1317961442 0.7094 -0.932 0.982 N 0.725 0.335 0.248417906384 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
T/N 24085 Ig-131 57 rs1317961442 0.7094 -0.932 0.982 N 0.725 0.335 0.248417906384 gnomAD-4.0.0 6.57289E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4705E-05 0 0
T/A 24482 Ig-132 52 rs1488357017 0.4517 -1.295 0.999 N 0.626 0.385 0.263612267334 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
T/A 24482 Ig-132 52 rs1488357017 0.4517 -1.295 0.999 N 0.626 0.385 0.263612267334 gnomAD-4.0.0 1.59204E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85972E-06 0 0
T/I 24482 Ig-132 52 rs1708660987 0.968 None 1.0 N 0.844 0.428 0.40318662893 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/I 24482 Ig-132 52 rs1708660987 0.968 None 1.0 N 0.844 0.428 0.40318662893 gnomAD-4.0.0 6.57652E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47098E-05 0 0
T/I 25167 Ig-134 57 rs1396100350 0.5141 0.515 0.97 N 0.718 0.479 0.304760801415 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
T/I 25167 Ig-134 57 rs1396100350 0.5141 0.515 0.97 N 0.718 0.479 0.304760801415 gnomAD-4.0.0 2.05299E-06 None None None None N None 2.99007E-05 0 None 0 0 None 0 0 0 2.31889E-05 0
T/N 25853 Ig-136 56 None 0.7532 None 0.998 N 0.745 0.334 0.246773566709 gnomAD-4.0.0 6.84332E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99607E-07 0 0
T/S 25853 Ig-136 56 None 0.2455 None 0.979 N 0.615 0.28 0.170165803431 gnomAD-4.0.0 6.84332E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15961E-05 0
A/T 26249 Ig-137 57 None 0.164 None 1.0 N 0.743 0.3 None gnomAD-4.0.0 1.63133E-06 None None None None N None 0 0 None 0 0 None 0 0 2.91187E-06 0 0
T/I 26646 Ig-138 53 rs1231567594 0.813 -0.388 0.983 N 0.763 0.478 0.345632371893 gnomAD-2.1.1 3.19E-05 None None None None N None 0 1.17924E-03 None 0 0 None 0 None 0 0 0
T/I 26646 Ig-138 53 rs1231567594 0.813 -0.388 0.983 N 0.763 0.478 0.345632371893 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
T/I 26646 Ig-138 53 rs1231567594 0.813 -0.388 0.983 N 0.763 0.478 0.345632371893 gnomAD-4.0.0 2.56264E-06 None None None None N None 0 3.39109E-05 None 0 0 None 0 0 0 0 0
T/N 26646 Ig-138 53 rs1231567594 0.8579 -1.64 0.967 N 0.723 0.393 0.30212335484 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
T/N 26646 Ig-138 53 rs1231567594 0.8579 -1.64 0.967 N 0.723 0.393 0.30212335484 gnomAD-4.0.0 1.59147E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
T/S 26646 Ig-138 53 None 0.2622 None 0.099 N 0.467 0.135 0.0986583533028 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
T/A 26935 Ig-139 56 None 0.0956 None 0.016 N 0.487 0.085 0.0806252709748 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/I 27332 Ig-140 55 None 0.7332 None 1.0 N 0.848 0.444 0.42538462244 gnomAD-4.0.0 6.84224E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65673E-05
T/R 27332 Ig-140 55 rs1485146094 0.9242 -0.401 1.0 N 0.854 0.443 0.573202078397 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
T/R 27332 Ig-140 55 rs1485146094 0.9242 -0.401 1.0 N 0.854 0.443 0.573202078397 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
T/R 27332 Ig-140 55 rs1485146094 0.9242 -0.401 1.0 N 0.854 0.443 0.573202078397 gnomAD-4.0.0 1.85919E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54294E-06 0 0
T/I 27729 Ig-141 54 rs753299607 0.9776 0.58 0.988 N 0.755 0.456 0.410603549233 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
T/I 27729 Ig-141 54 rs753299607 0.9776 0.58 0.988 N 0.755 0.456 0.410603549233 gnomAD-4.0.0 1.59161E-06 None None None None N None 0 0 None 0 2.77824E-05 None 0 0 0 0 0
T/A 28018 Ig-142 56 None 0.1236 None 0.309 N 0.617 0.152 0.152612264143 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
T/A 28413 Ig-143 56 None 0.1784 None 0.999 N 0.628 0.46 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
T/A 28808 Ig-144 54 rs1357418586 0.2985 -1.299 0.51 N 0.633 0.117 0.12205267543 gnomAD-2.1.1 7.38E-06 None None None None N None 8.29E-05 0 None 0 0 None 0 None 0 0 0
T/A 28808 Ig-144 54 rs1357418586 0.2985 -1.299 0.51 N 0.633 0.117 0.12205267543 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
T/A 28808 Ig-144 54 rs1357418586 0.2985 -1.299 0.51 N 0.633 0.117 0.12205267543 gnomAD-4.0.0 2.59521E-06 None None None None N None 3.39374E-05 0 None 0 0 None 0 0 0 0 0
T/I 28808 Ig-144 54 None 0.866 None 0.946 N 0.828 0.368 0.268660756437 gnomAD-4.0.0 6.88641E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.18315E-05 0
L/M 29100 Ig-145 56 rs1702186822 0.1239 None 0.81 N 0.729 0.121 0.373357554552 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/M 29100 Ig-145 56 rs1702186822 0.1239 None 0.81 N 0.729 0.121 0.373357554552 gnomAD-4.0.0 6.57108E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
A/S 29496 Ig-146 53 None 0.1957 None 0.226 N 0.505 0.076 0.17258766438 gnomAD-4.0.0 6.84267E-07 None None None None N None 2.98721E-05 0 None 0 0 None 0 0 0 0 0
A/T 29496 Ig-146 53 rs751491298 0.1858 -1.362 0.214 N 0.391 0.074 0.214338557667 gnomAD-2.1.1 3.22E-05 None None None None N None 4.14E-05 0 None 0 0 None 2.28788E-04 None 0 7.83E-06 0
A/T 29496 Ig-146 53 rs751491298 0.1858 -1.362 0.214 N 0.391 0.074 0.214338557667 gnomAD-3.1.2 3.29E-05 None None None None N None 4.83E-05 0 0 0 1.92976E-04 None 0 0 0 4.14594E-04 0
A/T 29496 Ig-146 53 rs751491298 0.1858 -1.362 0.214 N 0.391 0.074 0.214338557667 gnomAD-4.0.0 1.23946E-05 None None None None N None 3.99925E-05 0 None 0 2.23424E-05 None 0 0 8.47617E-07 1.31761E-04 4.80231E-05
A/V 29496 Ig-146 53 None 0.3708 None 0.896 N 0.684 0.294 0.355450299083 gnomAD-4.0.0 3.60101E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93756E-06 0 0
S/G 30979 Ig-150 53 rs1169211686 0.4785 -1.963 0.999 N 0.673 0.253 0.151104730317 gnomAD-2.1.1 7.14E-06 None None None None N None 0 0 None 0 1.02501E-04 None 0 None 0 0 0
S/G 30979 Ig-150 53 rs1169211686 0.4785 -1.963 0.999 N 0.673 0.253 0.151104730317 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92678E-04 None 0 0 0 0 0
S/G 30979 Ig-150 53 rs1169211686 0.4785 -1.963 0.999 N 0.673 0.253 0.151104730317 gnomAD-4.0.0 6.57142E-06 None None None None N None 0 0 None 0 1.92678E-04 None 0 0 0 0 0
S/N 30979 Ig-150 53 rs1430466843 0.8944 -0.566 0.999 N 0.701 0.163 0.144782658237 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
S/N 30979 Ig-150 53 rs1430466843 0.8944 -0.566 0.999 N 0.701 0.163 0.144782658237 gnomAD-4.0.0 1.59117E-06 None None None None N None 0 2.28676E-05 None 0 0 None 0 0 0 0 0
T/N 31271 Ig-151 54 rs1220633240 0.7447 -1.318 1.0 N 0.72 0.357 0.254761474806 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
T/N 31271 Ig-151 54 rs1220633240 0.7447 -1.318 1.0 N 0.72 0.357 0.254761474806 gnomAD-3.1.2 3.94E-05 None None None None N None 1.44844E-04 0 0 0 0 None 0 0 0 0 0
T/N 31271 Ig-151 54 rs1220633240 0.7447 -1.318 1.0 N 0.72 0.357 0.254761474806 gnomAD-4.0.0 1.02487E-05 None None None None N None 1.01506E-04 0 None 0 0 None 0 0 2.39275E-06 0 2.84414E-05
A/P 31671 Ig-152 51 rs1225295047 0.991 0.092 1.0 N 0.832 0.482 0.304435445954 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
A/P 31671 Ig-152 51 rs1225295047 0.991 0.092 1.0 N 0.832 0.482 0.304435445954 gnomAD-4.0.0 1.5912E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
S/A 32068 Ig-153 52 None 0.2073 None 0.012 N 0.515 0.068 0.107399877778 gnomAD-4.0.0 3.18286E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86549E-05 0
S/L 32068 Ig-153 52 None 0.6 None 0.027 N 0.725 0.266 0.30212335484 gnomAD-4.0.0 1.59141E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
A/G 32362 Ig-154 56 rs773773028 0.3006 -1.748 0.027 N 0.697 0.193 0.16115917748 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
A/G 32362 Ig-154 56 rs773773028 0.3006 -1.748 0.027 N 0.697 0.193 0.16115917748 gnomAD-4.0.0 2.05261E-06 None None None None N None 0 0 None 0 0 None 0 0 8.9947E-07 2.31873E-05 0
A/V 32362 Ig-154 56 rs773773028 0.1547 0.59 0.062 N 0.727 0.137 0.270889551736 gnomAD-2.1.1 4.83E-05 None None None None N None 0 0 None 0 6.12336E-04 None 0 None 0 8.9E-06 0
A/V 32362 Ig-154 56 rs773773028 0.1547 0.59 0.062 N 0.727 0.137 0.270889551736 gnomAD-4.0.0 1.09473E-05 None None None None N None 0 0 None 0 3.52698E-04 None 0 0 0 0 3.31334E-05
H/N 33156 Ig-156 56 rs374666520 0.5683 None 0.999 N 0.645 0.386 0.31077124679 gnomAD-4.0.0 6.84226E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65678E-05
H/R 33156 Ig-156 56 rs1375140267 0.8857 -1.705 1.0 N 0.755 0.486 0.31411915649 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
H/Y 33156 Ig-156 56 rs374666520 0.4293 0.322 1.0 N 0.659 0.344 None gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.54E-05 1.65289E-04
H/Y 33156 Ig-156 56 rs374666520 0.4293 0.322 1.0 N 0.659 0.344 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
H/Y 33156 Ig-156 56 rs374666520 0.4293 0.322 1.0 N 0.659 0.344 None gnomAD-4.0.0 4.0901E-05 None None None None N None 0 0 None 0 0 None 0 0 5.25518E-05 0 6.40533E-05
T/I 33252 Ig-157 50 None 0.8756 None 1.0 N 0.813 0.428 0.284539287134 gnomAD-4.0.0 1.36887E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.16036E-05 1.65706E-05
H/Q 33553 Ig-158 58 rs746903660 0.6765 -1.683 0.951 N 0.678 0.341 0.380564188046 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.91E-06 0
H/Q 33553 Ig-158 58 rs746903660 0.6765 -1.683 0.951 N 0.678 0.341 0.380564188046 gnomAD-4.0.0 6.16959E-06 None None None None N None 0 0 None 0 0 None 0 0 8.11027E-06 0 0
H/Y 33553 Ig-158 58 rs1575305295 0.1729 None 0.002 N 0.375 0.222 0.227934060464 gnomAD-4.0.0 1.59814E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87485E-06 0 0
T/I 33651 Ig-159 56 rs1559050637 0.9873 None 1.0 N 0.855 0.542 0.326616659874 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
T/I 33651 Ig-159 56 rs1559050637 0.9873 None 1.0 N 0.855 0.542 0.326616659874 gnomAD-4.0.0 2.73685E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59787E-06 0 0
Y/C 34316 Ig-161 59 rs1406877841 0.5424 None 0.1 N 0.611 0.263 0.21737058555 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
Y/C 34316 Ig-161 59 rs1406877841 0.5424 None 0.1 N 0.611 0.263 0.21737058555 gnomAD-4.0.0 6.56996E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46985E-05 0 0
Y/H 34316 Ig-161 59 None 0.5276 None 0.997 N 0.76 0.442 0.225215365344 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
Y/F 34419 Ig-162 57 None 0.1769 None 0.026 N 0.512 0.294 0.412980791724 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
Y/H 34419 Ig-162 57 None 0.6377 None 0.059 N 0.516 0.291 0.309530620856 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 34997 Ig-163 56 rs771364302 0.2069 -1.498 0.117 N 0.502 0.041 0.271763555656 gnomAD-2.1.1 7.13E-05 None None None None N None 0 0 None 0 1.02448E-03 None 0 None 0 0 0
L/V 34997 Ig-163 56 rs771364302 0.2069 -1.498 0.117 N 0.502 0.041 0.271763555656 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92604E-04 None 0 0 0 0 0
L/V 34997 Ig-163 56 rs771364302 0.2069 -1.498 0.117 N 0.502 0.041 0.271763555656 gnomAD-4.0.0 1.17729E-05 None None None None N None 0 0 None 0 4.23238E-04 None 0 0 0 0 0
S/A 35184 Ig-164 56 None 0.2285 None 0.992 N 0.597 0.306 0.186928172975 gnomAD-4.0.0 1.59085E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02334E-05
Y/C 35342 Ig-165 57 rs1060500560 0.2472 -1.161 0.008 N 0.603 0.236 0.137902524267 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
Y/C 35342 Ig-165 57 rs1060500560 0.2472 -1.161 0.008 N 0.603 0.236 0.137902524267 gnomAD-3.1.2 5.91E-05 None None None None N None 2.17087E-04 0 0 0 0 None 0 0 0 0 0
Y/C 35342 Ig-165 57 rs1060500560 0.2472 -1.161 0.008 N 0.603 0.236 0.137902524267 gnomAD-4.0.0 8.05512E-06 None None None None N None 1.60141E-04 0 None 0 0 None 0 0 8.47544E-07 0 0
Y/S 35342 Ig-165 57 rs1060500560 0.7464 -2.975 0.722 N 0.769 0.22 0.239901079897 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
Y/S 35342 Ig-165 57 rs1060500560 0.7464 -2.975 0.722 N 0.769 0.22 0.239901079897 gnomAD-4.0.0 1.36829E-06 None None None None N None 0 2.23594E-05 None 0 0 None 0 0 8.99405E-07 0 0
F/C 35475 Ig-166 56 None 0.3696 None 0.977 N 0.649 0.178 0.481246930725 gnomAD-4.0.0 1.20035E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31253E-06 0 0
F/I 35475 Ig-166 56 rs377463445 0.1729 -1.712 0.802 N 0.565 0.146 0.271763555656 gnomAD-2.1.1 1.54253E-04 None None None None N None 0 0 None 0 5.63E-05 None 1.24211E-03 None 0 0 0
F/I 35475 Ig-166 56 rs377463445 0.1729 -1.712 0.802 N 0.565 0.146 0.271763555656 gnomAD-3.1.2 5.26E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.65906E-03 0
F/I 35475 Ig-166 56 rs377463445 0.1729 -1.712 0.802 N 0.565 0.146 0.271763555656 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
F/I 35475 Ig-166 56 rs377463445 0.1729 -1.712 0.802 N 0.565 0.146 0.271763555656 gnomAD-4.0.0 7.8827E-05 None None None None N None 0 0 None 0 2.23424E-05 None 0 0 0 1.36515E-03 4.80754E-05
F/L 35475 Ig-166 56 rs1445321656 0.7685 -1.712 0.451 N 0.473 0.155 0.187945064343 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
F/L 35475 Ig-166 56 rs1445321656 0.7685 -1.712 0.451 N 0.473 0.155 0.187945064343 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/L 35475 Ig-166 56 rs1445321656 0.7685 -1.712 0.451 N 0.473 0.155 0.187945064343 gnomAD-4.0.0 6.57047E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46977E-05 0 0
F/V 35475 Ig-166 56 rs377463445 0.2133 -2.184 0.451 N 0.569 0.161 0.33835085245 gnomAD-2.1.1 8.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
F/V 35475 Ig-166 56 rs377463445 0.2133 -2.184 0.451 N 0.569 0.161 0.33835085245 gnomAD-4.0.0 6.16861E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19958E-06 0 1.65876E-05
Q/H 35660 Ig-167 54 None 0.3497 None 0.001 N 0.439 0.04 0.0716867268079 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
Q/R 35660 Ig-167 54 rs1258652838 0.2026 -0.456 0.324 N 0.678 0.17 0.0884992946249 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
Q/R 35660 Ig-167 54 rs1258652838 0.2026 -0.456 0.324 N 0.678 0.17 0.0884992946249 gnomAD-4.0.0 1.59397E-06 None None None None N None 0 0 None 0 2.77577E-05 None 0 0 0 0 0
Y/C 35757 Ig-168 56 rs932225386 0.2451 None 1.0 N 0.763 0.359 0.385249989106 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
Y/C 35757 Ig-168 56 rs932225386 0.2451 None 1.0 N 0.763 0.359 0.385249989106 gnomAD-4.0.0 1.85893E-06 None None None None N None 0 1.66656E-05 None 0 0 None 0 0 0 0 3.20205E-05
Y/H 35757 Ig-168 56 rs2154130935 0.4305 None 0.265 N 0.531 0.269 0.180583059064 gnomAD-4.0.0 2.40066E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-06 6.07533E-05 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.