Structural position:

  • Domain Type: Ig
  • Aligned Position: 121
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand D

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
V/L 54 Ig-1 49 None 0.354 None 0.094 N 0.469 0.26 0.378322506985 gnomAD-4.0.0 4.10442E-06 None None None -1.127(TCAP) N None 0 0 None 0 0 None 0 0 5.39576E-06 0 0
V/M 54 Ig-1 49 rs139517732 0.2615 -0.932 0.662 N 0.517 0.39 None gnomAD-2.1.1 4.25E-05 None None None -1.137(TCAP) N None 0 2.82E-05 None 0 5.52597E-04 None 0 None 0 0 0
V/M 54 Ig-1 49 rs139517732 0.2615 -0.932 0.662 N 0.517 0.39 None gnomAD-3.1.2 3.94E-05 None None None -1.137(TCAP) N None 0 6.54E-05 0 0 9.63391E-04 None 0 0 0 0 0
V/M 54 Ig-1 49 rs139517732 0.2615 -0.932 0.662 N 0.517 0.39 None 1000 genomes 5.99042E-04 None None None -1.137(TCAP) N None 0 0 None None 3E-03 0 None None None 0 None
V/M 54 Ig-1 49 rs139517732 0.2615 -0.932 0.662 N 0.517 0.39 None Itoh-Satoh (2002) Kumar (2016) None DCM het None -1.137(TCAP) N Genetic analysis of JP DCM families, unknown penetrance; decreases binding of TTN to TCAP (Y2H assay); Variant prioritisation; filtering with pathogenicity/stability tools; MD analysis of binding of TTN to TCAP None None None None None None None None None None None
V/M 54 Ig-1 49 rs139517732 0.2615 -0.932 0.662 N 0.517 0.39 None gnomAD-4.0.0 3.71722E-05 None None None -1.137(TCAP) N None 1.33284E-05 3.33178E-05 None 0 1.11458E-03 None 0 1.65017E-04 3.38981E-06 0 3.19969E-05
F/L 150 Ig-2 47 None 0.9937 None 0.999 N 0.504 0.544 0.273938319068 gnomAD-4.0.0 5.47247E-06 None None None -1.434(TCAP) N None 0 0 None 0 0 None 0 0 7.19435E-06 0 0
F/L 989 Ig-3 47 rs376548316 0.9985 -1.534 0.999 N 0.5 0.546 0.570056085782 gnomAD-2.1.1 5.58E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.1488E-04 1.63452E-04
F/L 989 Ig-3 47 rs376548316 0.9985 -1.534 0.999 N 0.5 0.546 0.570056085782 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 989 Ig-3 47 rs376548316 0.9985 -1.534 0.999 N 0.5 0.546 0.570056085782 gnomAD-4.0.0 6.84075E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99303E-07 0 0
Y/C 1128 Ig-4 47 None 0.568 None 1.0 D 0.816 0.756 0.772762111909 gnomAD-4.0.0 1.59113E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85732E-06 0 0
Y/H 1128 Ig-4 47 None 0.4895 None 1.0 N 0.715 0.682 0.519024713989 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
Y/H 1337 Ig-5 47 None 0.8691 None 0.059 N 0.384 0.411 0.336400405673 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/R 1503 Ig-6 47 None 0.3763 None 1.0 N 0.653 0.714 0.468085328875 gnomAD-4.0.0 2.05249E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79871E-06 1.15939E-05 0
I/V 1604 Ig-7 49 rs1382643483 0.1804 -1.584 0.219 N 0.164 0.185 0.541015953236 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
I/V 1604 Ig-7 49 rs1382643483 0.1804 -1.584 0.219 N 0.164 0.185 0.541015953236 gnomAD-4.0.0 1.59075E-06 None None None None N None 0 2.28634E-05 None 0 0 None 0 0 0 0 0
L/F 1751 Ig-8 49 rs1234295408 0.7546 None 0.64 N 0.357 0.263 0.462374447365 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 1751 Ig-8 49 rs1234295408 0.7546 None 0.64 N 0.357 0.263 0.462374447365 gnomAD-4.0.0 6.57082E-06 None None None None N None 2.41313E-05 0 None 0 0 None 0 0 0 0 0
Y/C 2220 Ig-11 47 None 0.3939 None 0.032 D 0.424 0.5 0.483082108137 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
Y/H 2220 Ig-11 47 rs1235706679 0.5105 -1.848 0.99 D 0.671 0.575 0.527199525852 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
Y/H 2220 Ig-11 47 rs1235706679 0.5105 -1.848 0.99 D 0.671 0.575 0.527199525852 gnomAD-4.0.0 4.10473E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49662E-06 1.15931E-05 0
Y/C 2312 Ig-12 46 None 0.4034 None 0.999 N 0.752 0.756 0.7168682315 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
Y/H 2312 Ig-12 46 None 0.4442 None 0.046 N 0.351 0.428 0.335164054921 gnomAD-4.0.0 6.00161E-06 None None None None N None 0 0 None 0 0 None 0 0 6.56251E-06 0 0
V/F 2401 Ig-13 46 rs762102248 0.1823 -1.498 0.864 N 0.768 0.4 0.671487266448 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/F 2401 Ig-13 46 rs762102248 0.1823 -1.498 0.864 N 0.768 0.4 0.671487266448 gnomAD-4.0.0 3.18112E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86541E-05 0
V/I 2401 Ig-13 46 rs762102248 0.0772 -0.76 0.006 N 0.244 0.067 0.344945010812 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.83E-06 0
V/I 2401 Ig-13 46 rs762102248 0.0772 -0.76 0.006 N 0.244 0.067 0.344945010812 gnomAD-4.0.0 4.77168E-06 None None None None N None 0 0 None 0 0 None 0 0 8.56991E-06 0 0
V/I 2491 Ig-14 47 rs976008348 0.0715 None 0.37 N 0.224 0.143 0.370051654043 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
V/I 2491 Ig-14 47 rs976008348 0.0715 None 0.37 N 0.224 0.143 0.370051654043 gnomAD-4.0.0 6.57315E-06 None None None None N None 0 6.55308E-05 None 0 0 None 0 0 0 0 0
Y/D 2578 Ig-15 46 None 0.9102 None 0.999 D 0.82 0.813 0.770770840146 gnomAD-4.0.0 6.84179E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99345E-07 0 0
Y/H 2578 Ig-15 46 rs754592016 0.4796 -2.031 0.999 N 0.703 0.585 0.407632638399 gnomAD-2.1.1 2.8E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.19E-05 0
Y/H 2578 Ig-15 46 rs754592016 0.4796 -2.031 0.999 N 0.703 0.585 0.407632638399 gnomAD-4.0.0 8.21015E-06 None None None None N None 0 0 None 0 0 None 0 0 1.07921E-05 0 0
I/M 2665 Ig-16 45 rs751461803 0.0981 -1.074 0.171 D 0.473 0.207 0.408444019923 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.8E-06 0
I/M 2665 Ig-16 45 rs751461803 0.0981 -1.074 0.171 D 0.473 0.207 0.408444019923 gnomAD-4.0.0 1.5906E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85656E-06 0 0
Y/C 2753 Ig-17 47 rs2091310789 0.3481 None 1.0 D 0.798 0.585 0.701639087021 gnomAD-4.0.0 1.5905E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
H/R 2840 Ig-18 46 None 0.3581 None 0.784 N 0.477 0.373 0.253726318573 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
F/S 2927 Ig-19 46 rs2091198989 0.9625 None 1.0 D 0.77 0.683 0.838527088331 gnomAD-4.0.0 3.18094E-06 None None None None N None 0 4.57247E-05 None 0 0 None 0 0 0 0 0
I/V 3103 Ig-21 46 rs2090782630 0.0943 None None N 0.178 0.11 0.411001663086 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
I/V 3103 Ig-21 46 rs2090782630 0.0943 None None N 0.178 0.11 0.411001663086 gnomAD-4.0.0 6.57099E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46998E-05 0 0
H/D 3194 Ig-22 48 rs1420659953 0.6957 -2.253 0.523 N 0.645 0.329 0.253205268125 gnomAD-4.0.0 6.84082E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
H/R 3194 Ig-22 48 None 0.4943 None 0.523 N 0.649 0.328 0.332133492242 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
H/Y 3194 Ig-22 48 rs1420659953 0.1053 None 0.001 N 0.175 0.103 0.139678290688 gnomAD-4.0.0 1.36816E-06 None None None None N None 5.97407E-05 0 None 0 0 None 0 0 0 0 0
C/W 3285 Ig-23 47 None 0.855 None 0.997 N 0.672 0.539 0.656562442728 gnomAD-4.0.0 6.84071E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
V/A 3511 Ig-25 47 None 0.2535 None None None None 0.233 None gnomAD-4.0.0 1.59114E-06 None None None None I None 5.65291E-05 0 None 0 0 None 0 0 0 0 0
L/P 3706 Ig-26 47 rs748468365 0.7251 -1.589 None None None 0.124 None gnomAD-2.1.1 1.21E-05 None None None None N None 1.93723E-04 0 None 0 0 None 0 None 0 0 0
L/P 3706 Ig-26 47 rs748468365 0.7251 -1.589 None None None 0.124 None 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/P 3706 Ig-26 47 rs748468365 0.7251 -1.589 None None None 0.124 None gnomAD-4.0.0 6.19671E-06 None None None None N None 1.06778E-04 0 None 0 0 None 1.56216E-05 0 0 0 1.60097E-05
Y/H 3866 Ig-27 47 rs777421661 0.2866 -1.949 0.002 N 0.296 0.175 None gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 1.11458E-04 None 0 None 0 0 0
Y/H 3866 Ig-27 47 rs777421661 0.2866 -1.949 0.002 N 0.296 0.175 None 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
Y/H 3866 Ig-27 47 rs777421661 0.2866 -1.949 0.002 N 0.296 0.175 None gnomAD-4.0.0 1.85889E-06 None None None None N None 0 0 None 0 6.68717E-05 None 0 0 0 0 0
Y/F 3984 Ig-28 47 rs776443623 0.1996 -0.505 None N 0.187 0.131 None 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
Y/F 3984 Ig-28 47 rs776443623 0.1996 -0.505 None N 0.187 0.131 None gnomAD-4.0.0 1.59114E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85789E-06 0 0
Y/H 3984 Ig-28 47 rs1263949163 0.222 -1.667 None N 0.285 0.122 None gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 6.41849E-04 None 0 None 0 0 0
Y/H 3984 Ig-28 47 rs1263949163 0.222 -1.667 None N 0.285 0.122 None gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92456E-04 None 0 0 0 0 0
Y/H 3984 Ig-28 47 rs1263949163 0.222 -1.667 None N 0.285 0.122 None gnomAD-4.0.0 2.56182E-06 None None None None N None 0 0 None 0 2.42389E-05 None 0 0 0 1.33998E-05 0
F/L 4650 Ig-29 45 rs2082065436 0.9101 None 0.9 D 0.494 0.424 None gnomAD-4.0.0 1.59378E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86359E-06 0 0
W/R 4841 Ig-31 47 rs2081362230 0.0526 None None N 0.363 0.24 0.0762999501168 gnomAD-4.0.0 1.36836E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79889E-06 0 0
Y/C 4934 Ig-32 47 None 0.082 None None N 0.321 0.396 0.434384183301 gnomAD-4.0.0 2.05274E-06 None None None None N None 2.98739E-05 0 None 0 0 None 0 0 1.79892E-06 0 0
Y/D 4934 Ig-32 47 rs2081313340 0.4212 None 0.317 D 0.593 0.448 0.651643192601 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
Y/D 4934 Ig-32 47 rs2081313340 0.4212 None 0.317 D 0.593 0.448 0.651643192601 gnomAD-4.0.0 6.57134E-06 None None None None N None 2.41231E-05 0 None 0 0 None 0 0 0 0 0
Y/H 4934 Ig-32 47 None 0.1402 None None N 0.287 0.23 0.273938319068 gnomAD-4.0.0 1.59148E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85819E-06 0 0
Y/H 5121 Ig-34 47 rs2081084380 0.6524 None 1.0 N 0.727 0.461 0.508696012846 gnomAD-4.0.0 3.18298E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71729E-06 0 0
I/V 5214 Ig-35 47 None 0.0722 None 0.001 N 0.195 0.078 0.386721274199 gnomAD-4.0.0 1.59118E-06 None None None None N None 0 0 None 0 0 None 1.88232E-05 0 0 0 0
Y/D 5307 Ig-36 47 rs1349650603 0.8652 -3.215 0.901 D 0.699 0.594 0.738898308675 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
Y/D 5307 Ig-36 47 rs1349650603 0.8652 -3.215 0.901 D 0.699 0.594 0.738898308675 gnomAD-4.0.0 1.59123E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8582E-06 0 0
Y/F 5403 Ig-37 47 None 0.1262 None 0.003 N 0.175 0.231 0.333154297509 gnomAD-4.0.0 1.59173E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
C/Y 5496 Ig-38 47 rs373848201 0.2443 -1.371 0.116 N 0.439 0.279 None gnomAD-2.1.1 8.06E-06 None None None None N None 1.29316E-04 0 None 0 0 None 0 None 0 0 0
C/Y 5496 Ig-38 47 rs373848201 0.2443 -1.371 0.116 N 0.439 0.279 None gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
C/Y 5496 Ig-38 47 rs373848201 0.2443 -1.371 0.116 N 0.439 0.279 None gnomAD-4.0.0 2.56283E-06 None None None None N None 3.38375E-05 0 None 0 0 None 0 0 0 0 0
Y/C 5683 Ig-40 47 rs72648942 0.231 -1.57 0.035 N 0.449 0.421 None gnomAD-2.1.1 5.44899E-03 None None None None N None 1.36431E-03 1.75339E-03 None 1.02574E-02 1.0247E-04 None 5.58824E-03 None 3.67647E-03 7.97448E-03 5.61798E-03
Y/C 5683 Ig-40 47 rs72648942 0.231 -1.57 0.035 N 0.449 0.421 None gnomAD-3.1.2 4.69132E-03 None None None None N None 1.30265E-03 3.27397E-03 0 8.06916E-03 1.9253E-04 None 4.98871E-03 3.16456E-03 7.46707E-03 3.51676E-03 9.57854E-04
Y/C 5683 Ig-40 47 rs72648942 0.231 -1.57 0.035 N 0.449 0.421 None 1000 genomes 1.99681E-03 None None None None N None 8E-04 7.2E-03 None None 0 2E-03 None None None 2E-03 None
Y/C 5683 Ig-40 47 rs72648942 0.231 -1.57 0.035 N 0.449 0.421 None gnomAD-4.0.0 6.7162E-03 None None None None N None 1.29254E-03 2.39952E-03 None 9.42631E-03 6.68539E-05 None 4.13894E-03 2.80436E-03 7.72101E-03 6.23573E-03 5.71456E-03
Y/D 5683 Ig-40 47 rs371062603 0.8445 -3.134 0.884 D 0.643 0.56 None gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
Y/D 5683 Ig-40 47 rs371062603 0.8445 -3.134 0.884 D 0.643 0.56 None 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
Y/D 5683 Ig-40 47 rs371062603 0.8445 -3.134 0.884 D 0.643 0.56 None gnomAD-4.0.0 1.31451E-05 None None None None N None 4.82765E-05 0 None 0 0 None 0 0 0 0 0
I/M 5776 Ig-41 47 rs928844023 0.1078 None 0.655 D 0.593 0.146 None gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/M 5776 Ig-41 47 rs928844023 0.1078 None 0.655 D 0.593 0.146 None gnomAD-4.0.0 3.84352E-06 None None None None N None 0 0 None 0 0 None 0 0 7.17879E-06 0 0
I/T 5776 Ig-41 47 None 0.1377 None 0.007 N 0.367 0.275 0.642082960585 gnomAD-4.0.0 1.36843E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79893E-06 0 0
I/V 5776 Ig-41 47 rs767553328 0.0719 -1.541 0.001 N 0.121 0.117 0.401612077098 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.88E-06 0
I/V 5776 Ig-41 47 rs767553328 0.0719 -1.541 0.001 N 0.121 0.117 0.401612077098 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 1.9305E-04 None 0 0 0 0 0
I/V 5776 Ig-41 47 rs767553328 0.0719 -1.541 0.001 N 0.121 0.117 0.401612077098 gnomAD-4.0.0 4.95763E-06 None None None None N None 1.33518E-05 0 None 0 2.22886E-05 None 0 0 2.54282E-06 2.19578E-05 1.60138E-05
Y/H 5965 Ig-43 47 rs752226947 0.2635 -1.383 None N 0.131 0.117 0.26547132957 gnomAD-2.1.1 5.01E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.09728E-04 0
Y/H 5965 Ig-43 47 rs752226947 0.2635 -1.383 None N 0.131 0.117 0.26547132957 gnomAD-3.1.2 5.92E-05 None None None None N None 0 0 0 0 0 None 0 0 1.32341E-04 0 0
Y/H 5965 Ig-43 47 rs752226947 0.2635 -1.383 None N 0.131 0.117 0.26547132957 gnomAD-4.0.0 2.60307E-05 None None None None N None 0 0 None 0 0 None 0 0 3.13644E-05 0 8.00743E-05
R/C 6058 Ig-44 47 rs189127014 0.1121 -1.729 0.079 N 0.367 0.273 None gnomAD-2.1.1 1.71635E-04 None None None None N None 1.48908E-03 1.41812E-04 None 0 1.54512E-04 None 3.27E-05 None 0 2.35E-05 0
R/C 6058 Ig-44 47 rs189127014 0.1121 -1.729 0.079 N 0.367 0.273 None gnomAD-3.1.2 4.73653E-04 None None None None N None 1.4978E-03 3.93546E-04 0 0 1.93498E-04 None 0 0 0 2.07727E-04 9.56023E-04
R/C 6058 Ig-44 47 rs189127014 0.1121 -1.729 0.079 N 0.367 0.273 None gnomAD-4.0.0 9.91744E-05 None None None None N None 1.57384E-03 2.50292E-04 None 0 8.93296E-05 None 0 1.65071E-04 5.08639E-06 3.29533E-05 2.08167E-04
R/H 6058 Ig-44 47 rs376012117 0.1114 -2.305 0.169 N 0.262 0.193 0.21737058555 gnomAD-2.1.1 6.08E-05 None None None None N None 0 0 None 0 5.15E-05 None 0 None 5.20208E-04 2.35E-05 0
R/H 6058 Ig-44 47 rs376012117 0.1114 -2.305 0.169 N 0.262 0.193 0.21737058555 gnomAD-3.1.2 3.95E-05 None None None None N None 2.41E-05 0 0 0 0 None 3.77216E-04 0 1.47E-05 0 0
R/H 6058 Ig-44 47 rs376012117 0.1114 -2.305 0.169 N 0.262 0.193 0.21737058555 gnomAD-4.0.0 3.59504E-05 None None None None N None 1.33337E-05 1.66828E-05 None 0 4.46588E-05 None 4.84587E-04 0 1.61071E-05 1.09842E-05 4.80415E-05
R/L 6058 Ig-44 47 rs376012117 0.1836 -0.754 0.967 N 0.541 0.301 0.602001837285 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.9E-06 0
R/L 6058 Ig-44 47 rs376012117 0.1836 -0.754 0.967 N 0.541 0.301 0.602001837285 gnomAD-4.0.0 2.05315E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79918E-06 1.15988E-05 0
H/L 6152 Ig-45 48 rs2080071193 0.106 None 0.062 N 0.573 0.251 0.482209950775 gnomAD-4.0.0 3.18298E-06 None None None None N None 0 0 None 0 5.54877E-05 None 0 0 0 0 0
H/R 6152 Ig-45 48 None 0.0927 None 0.117 N 0.553 0.28 0.270889551736 gnomAD-4.0.0 1.59149E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
C/F 6620 Ig-50 47 None 0.2311 None 0.565 N 0.7 0.295 0.774720988625 gnomAD-4.0.0 6.84404E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99711E-07 0 0
C/R 6620 Ig-50 47 rs1470771648 0.6738 None 0.949 N 0.801 0.581 0.841100326879 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
C/R 6620 Ig-50 47 rs1470771648 0.6738 None 0.949 N 0.801 0.581 0.841100326879 gnomAD-4.0.0 6.5735E-06 None None None None N None 2.41289E-05 0 None 0 0 None 0 0 0 0 0
C/Y 6620 Ig-50 47 rs935626596 0.215 -1.366 0.003 N 0.453 0.285 0.592799456133 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 1.66945E-04 None 0 None 0 8.88E-06 0
C/Y 6620 Ig-50 47 rs935626596 0.215 -1.366 0.003 N 0.453 0.285 0.592799456133 gnomAD-4.0.0 6.15963E-06 None None None None N None 0 0 None 0 2.52016E-05 None 0 0 5.39827E-06 2.31954E-05 0
Y/C 6714 Ig-51 48 rs774722320 0.1997 -1.631 0.003 N 0.423 0.44 0.493695379898 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
Y/C 6714 Ig-51 48 rs774722320 0.1997 -1.631 0.003 N 0.423 0.44 0.493695379898 gnomAD-4.0.0 2.05329E-06 None None None None N None 0 0 None 0 0 None 0 0 2.6991E-06 0 0
Y/H 6807 Ig-52 47 None 0.6192 None 0.535 D 0.37 0.261 0.39694197178 gnomAD-4.0.0 1.36897E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79943E-06 0 0
I/M 6901 Ig-53 48 rs1402912841 0.0945 None 0.427 N 0.601 0.302 0.480497669815 gnomAD-4.0.0 6.8441E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16015E-05 0
I/T 6901 Ig-53 48 rs770055282 0.0947 -2.714 None N 0.306 0.395 0.573784085325 gnomAD-2.1.1 5.23E-05 None None None None N None 0 0 None 0 0 None 3.92542E-04 None 0 0 1.65893E-04
I/T 6901 Ig-53 48 rs770055282 0.0947 -2.714 None N 0.306 0.395 0.573784085325 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14079E-04 0
I/T 6901 Ig-53 48 rs770055282 0.0947 -2.714 None N 0.306 0.395 0.573784085325 gnomAD-4.0.0 2.6034E-05 None None None None N None 0 0 None 0 0 None 0 1.64528E-04 8.47785E-07 4.06424E-04 4.8043E-05
I/V 6901 Ig-53 48 None 0.0748 None None N 0.169 0.139 0.559541123154 gnomAD-4.0.0 1.59219E-06 None None None None N None 0 2.28749E-05 None 0 0 None 0 0 0 0 0
Y/C 7090 Ig-55 47 rs1560711168 0.2081 None 0.999 N 0.697 0.561 0.754557078919 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43299E-05 0
Y/N 7090 Ig-55 47 None 0.2865 None 0.896 D 0.573 0.534 0.76754552583 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
C/G 7183 Ig-56 47 None 0.2757 None 0.98 N 0.688 0.502 0.802337023659 gnomAD-4.0.0 1.59216E-06 None None None None N None 5.66123E-05 0 None 0 0 None 0 0 0 0 0
C/R 7183 Ig-56 47 rs1295622488 0.5768 -1.253 0.997 N 0.755 0.562 0.744421343069 gnomAD-2.1.1 8.05E-06 None None None None N None 0 5.81E-05 None 0 0 None 0 None 0 0 0
C/R 7183 Ig-56 47 rs1295622488 0.5768 -1.253 0.997 N 0.755 0.562 0.744421343069 gnomAD-4.0.0 3.18433E-06 None None None None N None 0 4.57687E-05 None 0 0 None 0 0 0 0 0
C/Y 7183 Ig-56 47 rs189951108 0.278 -1.528 0.999 N 0.699 0.335 None gnomAD-2.1.1 3.86076E-04 None None None None N None 1.65481E-04 4.82242E-04 None 0 0 None 1.96412E-04 None 4E-05 6.02052E-04 4.22654E-04
C/Y 7183 Ig-56 47 rs189951108 0.278 -1.528 0.999 N 0.699 0.335 None gnomAD-3.1.2 4.73342E-04 None None None None N None 1.20668E-04 3.93236E-04 0 0 0 None 0 0 8.82405E-04 0 4.77555E-04
C/Y 7183 Ig-56 47 rs189951108 0.278 -1.528 0.999 N 0.699 0.335 None 1000 genomes 9.98403E-04 None None None None N None 0 1.4E-03 None None 0 4E-03 None None None 0 None
C/Y 7183 Ig-56 47 rs189951108 0.278 -1.528 0.999 N 0.699 0.335 None gnomAD-4.0.0 7.21462E-04 None None None None N None 1.06655E-04 5.50367E-04 None 0 0 None 0 0 9.03708E-04 3.51486E-04 4.00333E-04
C/G 7276 Ig-57 47 None 0.351 None 0.491 N 0.583 0.381 0.649436034143 gnomAD-4.0.0 6.84332E-07 None None None None N None 0 0 None 0 2.52118E-05 None 0 0 0 0 0
C/S 7276 Ig-57 47 rs1362677027 0.4489 None 0.285 N 0.514 0.289 0.651006993216 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
C/S 7276 Ig-57 47 rs1362677027 0.4489 None 0.285 N 0.514 0.289 0.651006993216 gnomAD-4.0.0 2.47934E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39091E-06 0 0
C/Y 7276 Ig-57 47 None 0.2379 None 0.005 N 0.371 0.29 0.503186968135 gnomAD-4.0.0 5.47471E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19656E-06 0 0
Y/C 7561 Ig-60 47 rs786205544 0.5628 None 1.0 N 0.792 0.505 0.754199488981 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 7561 Ig-60 47 rs786205544 0.5628 None 1.0 N 0.792 0.505 0.754199488981 gnomAD-4.0.0 2.47909E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54315E-06 0 1.60143E-05
Y/H 7561 Ig-60 47 None 0.7279 None 0.999 N 0.711 0.472 0.598713980857 gnomAD-4.0.0 1.71075E-05 None None None None N None 0 0 None 0 0 None 0 0 2.24897E-05 0 0
Y/F 7655 Ig-61 48 rs775036090 0.1452 -1.06 0.801 N 0.51 0.206 0.505765104075 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
Y/F 7655 Ig-61 48 rs775036090 0.1452 -1.06 0.801 N 0.51 0.206 0.505765104075 gnomAD-4.0.0 1.59245E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86118E-06 0 0
Y/N 7655 Ig-61 48 None 0.3706 None 0.934 N 0.559 0.553 0.701728203507 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
H/Y 7935 Ig-64 47 None 0.0648 None 0.002 N 0.178 0.186 0.233150807113 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
C/Y 8031 Ig-65 47 rs2077976693 0.0594 None None N 0.34 0.234 0.414798848334 gnomAD-4.0.0 1.3684E-06 None None None None N None 0 0 None 0 2.51902E-05 None 0 0 8.9948E-07 0 0
C/R 8124 Ig-66 47 rs1577966478 0.3004 None 0.999 N 0.735 0.604 0.854177468779 gnomAD-4.0.0 1.59129E-06 None None None None N None 0 0 None 0 0 None 0 2.4108E-04 0 0 0
C/Y 8124 Ig-66 47 rs754319631 0.251 -1.527 0.4 N 0.429 0.317 0.651574910104 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
C/Y 8124 Ig-66 47 rs754319631 0.251 -1.527 0.4 N 0.429 0.317 0.651574910104 gnomAD-4.0.0 7.52636E-06 None None None None N None 0 0 None 0 0 None 0 0 9.89431E-06 0 0
C/R 8217 Ig-67 47 None 0.5901 None 0.016 N 0.485 0.382 0.719995979321 gnomAD-4.0.0 1.59134E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85842E-06 0 0
Y/C 8310 Ig-68 47 rs879064808 0.1078 -1.504 0.27 N 0.421 0.371 0.507987536778 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
Y/C 8310 Ig-68 47 rs879064808 0.1078 -1.504 0.27 N 0.421 0.371 0.507987536778 gnomAD-4.0.0 3.42137E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79903E-06 3.4781E-05 0
Y/H 8310 Ig-68 47 None 0.3683 None 0.046 D 0.313 0.319 0.370608029945 gnomAD-4.0.0 6.84287E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99525E-07 0 0
Y/N 8310 Ig-68 47 rs397517511 0.4197 -2.546 0.987 N 0.628 0.513 0.837140343473 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 1.66963E-04 None 0 None 0 0 0
Y/N 8310 Ig-68 47 rs397517511 0.4197 -2.546 0.987 N 0.628 0.513 0.837140343473 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85505E-04 None 0 0 0 0 0
Y/N 8310 Ig-68 47 rs397517511 0.4197 -2.546 0.987 N 0.628 0.513 0.837140343473 gnomAD-4.0.0 4.33831E-06 None None None None N None 0 0 None 0 1.11403E-04 None 0 0 0 0 3.20236E-05
L/M 8406 Ig-69 47 rs1183682062 0.1059 -1.009 0.01 N 0.237 0.091 0.302793454619 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
L/M 8406 Ig-69 47 rs1183682062 0.1059 -1.009 0.01 N 0.237 0.091 0.302793454619 gnomAD-4.0.0 1.5921E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85959E-06 0 0
Y/C 8689 Ig-72 47 None 0.3987 None 1.0 D 0.755 0.578 0.762425462539 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
I/K 8783 Ig-73 48 rs1226202295 0.3093 None 0.001 N 0.623 0.395 0.774775221225 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/K 8783 Ig-73 48 rs1226202295 0.3093 None 0.001 N 0.623 0.395 0.774775221225 gnomAD-4.0.0 6.57082E-06 None None None None N None 2.41231E-05 0 None 0 0 None 0 0 0 0 0
I/L 8783 Ig-73 48 None 0.0971 None None D 0.165 0.075 0.301789629655 gnomAD-4.0.0 6.84237E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99501E-07 0 0
I/M 8783 Ig-73 48 rs767996372 0.0964 -0.883 0.039 N 0.612 0.23 0.429552544315 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
I/M 8783 Ig-73 48 rs767996372 0.0964 -0.883 0.039 N 0.612 0.23 0.429552544315 gnomAD-4.0.0 6.15819E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19602E-06 0 1.65662E-05
I/T 8783 Ig-73 48 rs1226202295 0.1427 -2.256 0.014 N 0.586 0.252 0.646043907412 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/T 8783 Ig-73 48 rs1226202295 0.1427 -2.256 0.014 N 0.586 0.252 0.646043907412 gnomAD-4.0.0 1.36848E-06 None None None None N None 0 0 None 0 2.51915E-05 None 0 0 8.99497E-07 0 0
I/V 8783 Ig-73 48 rs2077150875 0.073 None None N 0.187 0.118 0.36076525451 gnomAD-4.0.0 4.78966E-06 None None None None N None 0 0 None 0 0 None 0 0 3.598E-06 2.31873E-05 1.65673E-05
Y/C 8876 Ig-74 47 rs1307074594 0.2152 -1.904 1.0 N 0.747 0.524 0.643332317526 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
Y/C 8972 Ig-75 47 None 0.3555 None 1.0 N 0.749 0.484 0.727831686896 gnomAD-4.0.0 3.18357E-06 None None None None N None 0 4.57708E-05 None 0 0 None 0 0 0 0 0
Y/H 8972 Ig-75 47 None 0.4442 None 0.265 N 0.394 0.305 0.353125101423 gnomAD-4.0.0 1.59181E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85884E-06 0 0
C/G 9065 Ig-76 47 rs201229221 0.297 -2.414 0.035 D 0.445 0.386 0.751370582459 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
C/R 9065 Ig-76 47 rs201229221 0.5217 -1.327 0.988 D 0.724 0.57 None gnomAD-2.1.1 4.29E-05 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 7.82E-05 0
C/R 9065 Ig-76 47 rs201229221 0.5217 -1.327 0.988 D 0.724 0.57 None gnomAD-3.1.2 7.23E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 1.17609E-04 0 0
C/R 9065 Ig-76 47 rs201229221 0.5217 -1.327 0.988 D 0.724 0.57 None gnomAD-4.0.0 1.62979E-04 None None None None N None 6.67307E-05 0 None 0 0 None 0 0 2.02578E-04 0 3.04214E-04
C/S 9065 Ig-76 47 None 0.4157 None 0.31 N 0.445 0.369 0.603850281814 gnomAD-4.0.0 6.8422E-07 None None None None N None 0 0 None 0 2.52016E-05 None 0 0 0 0 0
C/S 9158 Ig-77 47 None 0.437 None 0.784 D 0.583 0.281 0.745366178539 gnomAD-4.0.0 1.59113E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85798E-06 0 0
C/Y 9158 Ig-77 47 None 0.2606 None 0.01 N 0.433 0.221 0.633466640759 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
Y/C 9251 Ig-78 47 rs2076738638 0.055 None None N 0.201 0.174 0.382592752248 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.78927E-04
Y/C 9251 Ig-78 47 rs2076738638 0.055 None None N 0.201 0.174 0.382592752248 gnomAD-4.0.0 3.0447E-06 None None None None N None 0 0 None 0 0 None 0 0 1.2049E-06 0 6.80596E-05
V/A 9347 Ig-79 47 None 0.2539 None 0.012 None 0.491 0.196 0.438383285633 gnomAD-4.0.0 1.5911E-06 None None None None N None 0 0 None 4.76644E-05 0 None 0 0 0 0 0
V/L 9347 Ig-79 47 rs1382932532 0.1234 -0.298 0.004 None 0.37 0.075 0.18995819373 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
V/L 9347 Ig-79 47 rs1382932532 0.1234 -0.298 0.004 None 0.37 0.075 0.18995819373 gnomAD-4.0.0 1.59109E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85812E-06 0 0
C/W 9540 Ig-81 48 None 0.405 None 0.927 None 0.597 0.418 0.730682531328 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
C/Y 9540 Ig-81 48 rs1427971848 0.1767 None 0.001 None 0.415 0.23 0.475034548194 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
C/R 9636 Ig-82 47 rs2076080616 0.708 None 0.988 None 0.687 0.429 0.772638994673 gnomAD-4.0.0 1.36836E-06 None None None None N None 0 0 None 3.82702E-05 0 None 0 0 0 0 1.65645E-05
C/Y 9636 Ig-82 47 rs1434739895 0.3502 -1.558 0.134 None 0.462 0.267 0.462111473445 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
C/Y 9636 Ig-82 47 rs1434739895 0.3502 -1.558 0.134 None 0.462 0.267 0.462111473445 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
C/Y 9636 Ig-82 47 rs1434739895 0.3502 -1.558 0.134 None 0.462 0.267 0.462111473445 gnomAD-4.0.0 6.57013E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46981E-05 0 0
V/I 9745 Ig-83 48 rs879159098 0.0579 None None None 0.147 0.14 0.167679373172 gnomAD-4.0.0 1.36833E-06 None None None None N None 0 2.23604E-05 None 0 0 None 0 0 8.99426E-07 0 0
F/C 9947 Ig-84 48 None 0.6937 None 0.915 None 0.551 0.416 0.608671624233 gnomAD-4.0.0 6.8478E-07 None None None None N None 0 0 None 0 2.51965E-05 None 0 0 0 0 0
F/S 9947 Ig-84 48 None 0.8785 None 0.117 None 0.533 0.392 0.509109621728 gnomAD-4.0.0 6.8478E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00017E-07 0 0
H/D 10034 Ig-85 46 None 0.7212 None 0.007 None 0.453 0.216 0.0716867268079 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/C 10123 Ig-86 46 None 0.9523 None 1.0 None 0.839 0.757 0.77875509527 gnomAD-4.0.0 1.59086E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
H/N 13732 Ig-87 49 None 0.5187 None 0.999 N 0.476 0.407 0.340032825777 gnomAD-4.0.0 1.5919E-06 None None None None N None 0 0 None 0 0 None 1.88274E-05 0 0 0 0
I/N 13826 Ig-88 47 rs1252440805 0.6295 None 0.772 N 0.741 0.138 0.389439708392 gnomAD-4.0.0 6.84415E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9964E-07 0 0
I/T 13826 Ig-88 47 rs1252440805 0.3334 -3.055 0.003 N 0.427 0.149 0.354396617058 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 9.29E-05 0 0
I/V 13826 Ig-88 47 None 0.091 None 0.001 N 0.171 0.082 0.170165803431 gnomAD-4.0.0 1.59242E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86005E-06 0 0
T/A 13921 Ig-89 46 None 0.2779 None 0.817 N 0.474 0.152 0.101711395817 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 13921 Ig-89 46 None 0.3099 None 0.126 N 0.398 0.189 0.186928172975 gnomAD-4.0.0 6.93129E-07 None None None None N None 0 0 None 0 0 None 0 0 9.08001E-07 0 0
F/C 14098 Ig-91 45 rs761607459 0.4693 -2.355 0.999 N 0.547 0.55 0.791778486281 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
F/C 14098 Ig-91 45 rs761607459 0.4693 -2.355 0.999 N 0.547 0.55 0.791778486281 gnomAD-4.0.0 3.18461E-06 None None None None N None 0 0 None 0 2.77731E-05 None 0 0 0 1.43332E-05 0
F/L 14098 Ig-91 45 rs764819276 0.9515 -1.713 0.826 N 0.518 0.392 0.276898752692 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
F/L 14098 Ig-91 45 rs764819276 0.9515 -1.713 0.826 N 0.518 0.392 0.276898752692 gnomAD-3.1.2 1.97E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 2.94E-05 0 0
F/L 14098 Ig-91 45 rs764819276 0.9515 -1.713 0.826 N 0.518 0.392 0.276898752692 gnomAD-4.0.0 4.33918E-06 None None None None N None 0 1.66767E-05 None 0 0 None 0 0 5.08696E-06 0 0
F/S 14098 Ig-91 45 None 0.7835 None 0.959 N 0.545 0.478 0.787347168989 gnomAD-4.0.0 4.77692E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58025E-06 0 0
V/G 14187 Ig-92 46 rs755713534 0.6146 -2.242 0.997 D 0.685 0.572 0.854271221731 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
V/G 14187 Ig-92 46 rs755713534 0.6146 -2.242 0.997 D 0.685 0.572 0.854271221731 gnomAD-4.0.0 1.59195E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
V/I 14187 Ig-92 46 None 0.0979 None 0.987 N 0.495 0.262 0.676633843901 gnomAD-4.0.0 1.36868E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79924E-06 0 0
C/G 14364 Ig-94 46 rs1454558974 0.5255 -2.241 0.971 N 0.76 0.261 0.679282971961 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14732E-04 0 None 0 0 None 0 None 0 0 0
C/G 14364 Ig-94 46 rs1454558974 0.5255 -2.241 0.971 N 0.76 0.261 0.679282971961 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
C/G 14364 Ig-94 46 rs1454558974 0.5255 -2.241 0.971 N 0.76 0.261 0.679282971961 gnomAD-4.0.0 6.57367E-06 None None None None N None 2.41231E-05 0 None 0 0 None 0 0 0 0 0
C/R 14364 Ig-94 46 None 0.7186 None 0.991 N 0.771 0.296 0.686119149826 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
C/Y 14364 Ig-94 46 rs1462387608 0.5909 -1.46 0.991 N 0.672 0.337 0.523961927912 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
C/Y 14364 Ig-94 46 rs1462387608 0.5909 -1.46 0.991 N 0.672 0.337 0.523961927912 gnomAD-4.0.0 1.59364E-06 None None None None N None 0 2.28843E-05 None 0 0 None 0 0 0 0 0
F/C 14453 Ig-95 46 rs777429220 0.1901 -2.057 0.612 D 0.614 0.326 0.422283790207 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 6.54E-05 None 0 0 0
F/C 14453 Ig-95 46 rs777429220 0.1901 -2.057 0.612 D 0.614 0.326 0.422283790207 gnomAD-4.0.0 3.18369E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86574E-05 0
F/L 14453 Ig-95 46 rs878966051 0.371 None None N 0.188 0.193 0.37262878642 gnomAD-4.0.0 1.59184E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85964E-06 0 0
V/L 14542 Ig-96 46 None 0.2884 None 0.09 D 0.493 0.165 0.407767136052 gnomAD-4.0.0 1.60164E-06 None None None None N None 0 0 None 4.804E-05 0 None 0 0 0 0 0
A/T 14631 Ig-97 46 None 0.0856 None 0.012 N 0.521 0.082 0.306695030598 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/V 14631 Ig-97 46 rs1237863283 0.078 None None N 0.181 0.183 0.0920862733494 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/V 14631 Ig-97 46 rs1237863283 0.078 None None N 0.181 0.183 0.0920862733494 gnomAD-4.0.0 1.23982E-06 None None None None N None 1.33561E-05 0 None 0 0 None 0 0 8.47759E-07 0 0
C/F 14720 Ig-98 46 rs752834664 0.4332 -1.288 0.994 N 0.849 0.404 0.402614778071 gnomAD-2.1.1 1.7E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.68E-05 0
C/F 14720 Ig-98 46 rs752834664 0.4332 -1.288 0.994 N 0.849 0.404 0.402614778071 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
C/F 14720 Ig-98 46 rs752834664 0.4332 -1.288 0.994 N 0.849 0.404 0.402614778071 gnomAD-4.0.0 1.93823E-05 None None None None N None 0 0 None 0 0 None 0 0 2.29545E-05 1.14927E-05 4.84152E-05
V/L 14809 Ig-99 45 rs775225695 0.3335 -0.424 0.898 N 0.485 0.138 0.566443977814 gnomAD-2.1.1 5.09E-06 None None None None N None 0 0 None 0 0 None 4.61E-05 None 0 0 0
V/L 14809 Ig-99 45 rs775225695 0.3335 -0.424 0.898 N 0.485 0.138 0.566443977814 gnomAD-3.1.2 6.6E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07641E-04 0
V/L 14809 Ig-99 45 rs775225695 0.3335 -0.424 0.898 N 0.485 0.138 0.566443977814 gnomAD-4.0.0 6.46488E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.27662E-04 0
V/M 14809 Ig-99 45 rs775225695 0.2308 None 0.993 D 0.747 0.374 0.628821965753 gnomAD-3.1.2 6.6E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/M 14809 Ig-99 45 rs775225695 0.2308 None 0.993 D 0.747 0.374 0.628821965753 gnomAD-4.0.0 6.46488E-06 None None None None N None 0 0 None 0 0 None 0 0 6.9245E-06 0 3.35132E-05
Y/C 14898 Ig-100 46 None 0.4159 None 1.0 D 0.826 0.656 0.657572108434 gnomAD-4.0.0 1.59355E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86252E-06 0 0
Y/H 14898 Ig-100 46 rs752146866 0.4115 -2.107 1.0 N 0.728 0.489 0.436993770938 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
Y/H 14898 Ig-100 46 rs752146866 0.4115 -2.107 1.0 N 0.728 0.489 0.436993770938 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
Y/C 14987 Ig-101 46 None 0.3938 None 1.0 D 0.782 0.607 0.662894048667 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
Y/H 15076 Ig-102 46 None 0.3528 None 0.916 N 0.621 0.425 0.443797312901 gnomAD-4.0.0 1.36932E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79984E-06 0 0
Y/C 15165 Ig-103 46 None 0.4757 None 1.0 D 0.8 0.535 0.630178222335 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
V/A 15347 Ig-105 46 None 0.471 None 0.104 N 0.611 0.276 0.676464442291 gnomAD-4.0.0 2.05422E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.48004E-05 0
V/G 15347 Ig-105 46 rs375367475 0.5301 -2.695 0.667 N 0.748 0.491 None gnomAD-2.1.1 6.45E-05 None None None None N None 7.4491E-04 0 None 0 0 None 0 None 0 0 0
V/G 15347 Ig-105 46 rs375367475 0.5301 -2.695 0.667 N 0.748 0.491 None gnomAD-3.1.2 2.30427E-04 None None None None N None 8.21296E-04 6.57E-05 0 0 0 None 0 0 0 0 0
V/G 15347 Ig-105 46 rs375367475 0.5301 -2.695 0.667 N 0.748 0.491 None 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
V/G 15347 Ig-105 46 rs375367475 0.5301 -2.695 0.667 N 0.748 0.491 None gnomAD-4.0.0 3.41103E-05 None None None None N None 6.94166E-04 1.67006E-05 None 0 0 None 0 0 0 0 3.20461E-05
V/I 15347 Ig-105 46 None 0.0716 None None N 0.166 0.111 0.278968121808 gnomAD-4.0.0 1.36948E-06 None None None None N None 0 0 None 0 0 None 0 0 9.00022E-07 0 1.65843E-05
Y/C 15436 Ig-106 46 None 0.6438 None 1.0 D 0.793 0.696 0.603487413129 gnomAD-4.0.0 1.60326E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.46417E-05 0
Y/H 15436 Ig-106 46 rs748548136 0.6748 -1.625 1.0 D 0.734 0.556 0.441844919209 gnomAD-2.1.1 4.09E-06 None None None None N None 6.5E-05 0 None 0 0 None 0 None 0 0 0
Y/H 15436 Ig-106 46 rs748548136 0.6748 -1.625 1.0 D 0.734 0.556 0.441844919209 gnomAD-3.1.2 1.98E-05 None None None None N None 4.83E-05 6.57E-05 0 0 0 None 0 0 0 0 0
Y/H 15436 Ig-106 46 rs748548136 0.6748 -1.625 1.0 D 0.734 0.556 0.441844919209 gnomAD-4.0.0 5.59456E-06 None None None None N None 1.07173E-04 1.68731E-05 None 0 0 None 0 0 0 0 0
Y/N 15436 Ig-106 46 rs748548136 0.7633 -2.744 1.0 D 0.825 0.673 0.718952573792 gnomAD-2.1.1 4.09E-06 None None None None N None 0 2.96E-05 None 0 0 None 0 None 0 0 0
Y/N 15436 Ig-106 46 rs748548136 0.7633 -2.744 1.0 D 0.825 0.673 0.718952573792 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.57E-05 0 0 0 None 0 0 0 0 0
Y/N 15436 Ig-106 46 rs748548136 0.7633 -2.744 1.0 D 0.825 0.673 0.718952573792 gnomAD-4.0.0 3.10809E-06 None None None None N None 0 5.06192E-05 None 0 0 None 0 0 0 0 3.21213E-05
H/R 15525 Ig-107 46 rs1313832139 0.5486 None 0.773 N 0.501 0.295 0.28798054836 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 1.95084E-04 None 0 0 0 0 0
H/R 15525 Ig-107 46 rs1313832139 0.5486 None 0.773 N 0.501 0.295 0.28798054836 gnomAD-4.0.0 2.03062E-06 None None None None N None 1.74899E-05 0 None 0 1.14207E-04 None 0 0 0 0 0
H/Y 15525 Ig-107 46 rs1413462312 0.0918 1.009 0.001 N 0.136 0.229 0.176091768786 gnomAD-2.1.1 8.06E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 1.65948E-04
H/Y 15525 Ig-107 46 rs1413462312 0.0918 1.009 0.001 N 0.136 0.229 0.176091768786 gnomAD-4.0.0 1.5938E-06 None None None None N None 0 2.28802E-05 None 0 0 None 0 0 0 0 0
L/F 17001 Ig-111 47 None 0.1592 None 0.655 N 0.527 0.084 0.344483371355 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
V/F 17718 Ig-113 42 rs757223139 0.3551 -1.367 0.968 N 0.732 0.372 0.71530076483 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/F 17718 Ig-113 42 rs757223139 0.3551 -1.367 0.968 N 0.732 0.372 0.71530076483 gnomAD-4.0.0 1.59229E-06 None None None None N None 0 0 None 0 2.77331E-05 None 0 0 0 0 0
V/G 17718 Ig-113 42 None 0.4098 None 0.811 D 0.702 0.437 0.781884890362 gnomAD-4.0.0 2.05322E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69919E-06 0 0
V/I 17718 Ig-113 42 rs757223139 0.1038 -0.586 0.64 N 0.579 0.238 0.491523185611 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
V/I 17718 Ig-113 42 rs757223139 0.1038 -0.586 0.64 N 0.579 0.238 0.491523185611 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
V/I 17718 Ig-113 42 rs757223139 0.1038 -0.586 0.64 N 0.579 0.238 0.491523185611 gnomAD-4.0.0 6.57929E-06 None None None None N None 0 6.55566E-05 None 0 0 None 0 0 0 0 0
V/G 18738 Ig-116 51 rs777956655 0.5378 -1.767 0.928 N 0.721 0.631 None gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
V/G 18738 Ig-116 51 rs777956655 0.5378 -1.767 0.928 N 0.721 0.631 None 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
V/G 18738 Ig-116 51 rs777956655 0.5378 -1.767 0.928 N 0.721 0.631 None gnomAD-4.0.0 8.97572E-06 None None None None N None 0 0 None 0 0 None 0 0 1.67667E-05 0 0
T/A 19433 Ig-118 43 None 0.1348 None 0.78 N 0.554 0.139 0.338834610459 gnomAD-4.0.0 2.05301E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69869E-06 0 0
I/L 19833 Ig-119 44 rs2050442222 0.2581 None 0.104 D 0.237 0.214 0.32082282376 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.94099E-04 None 0 0 0 0 0
I/L 19833 Ig-119 44 rs2050442222 0.2581 None 0.104 D 0.237 0.214 0.32082282376 gnomAD-4.0.0 2.56307E-05 None None None None N None 0 0 None 0 4.85625E-04 None 0 0 0 0 0
I/S 19833 Ig-119 44 None 0.6403 None 0.999 N 0.724 0.554 0.904533080692 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
V/G 20523 Ig-121 45 rs1461050183 0.2927 None 0.968 N 0.738 0.482 0.666713593321 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
V/G 20523 Ig-121 45 rs1461050183 0.2927 None 0.968 N 0.738 0.482 0.666713593321 gnomAD-4.0.0 7.43992E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01743E-05 0 0
V/M 20523 Ig-121 45 rs2049899591 0.1724 None 0.984 N 0.605 0.246 0.497021753114 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
V/M 20523 Ig-121 45 rs2049899591 0.1724 None 0.984 N 0.605 0.246 0.497021753114 gnomAD-4.0.0 6.57687E-06 None None None None N None 2.41383E-05 0 None 0 0 None 0 0 0 0 0
I/L 21910 Ig-125 45 rs749668988 0.1214 None None N 0.093 0.126 0.608671624233 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
I/R 21910 Ig-125 45 None 0.2786 None 0.002 N 0.345 0.427 0.73443042151 gnomAD-4.0.0 6.85237E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65953E-05
I/T 21910 Ig-125 45 rs146941600 0.3273 -2.579 0.007 N 0.237 0.169 None gnomAD-2.1.1 1.91954E-04 None None None None N None 8.36E-05 8.59E-05 None 0 2.16564E-03 None 6.59E-05 None 0 0 7.12454E-04
I/T 21910 Ig-125 45 rs146941600 0.3273 -2.579 0.007 N 0.237 0.169 None gnomAD-3.1.2 2.82872E-04 None None None None N None 4.83E-05 1.63827E-03 0 0 1.93874E-03 None 0 0 1.47E-05 0 2.39693E-03
I/T 21910 Ig-125 45 rs146941600 0.3273 -2.579 0.007 N 0.237 0.169 None 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
I/T 21910 Ig-125 45 rs146941600 0.3273 -2.579 0.007 N 0.237 0.169 None gnomAD-4.0.0 1.50173E-04 None None None None N None 4.00224E-05 4.68353E-04 None 0 1.12349E-03 None 0 0 6.78774E-06 1.10069E-05 2.43722E-03
I/V 21910 Ig-125 45 rs749668988 0.088 -1.471 0.001 N 0.149 0.091 0.436671004673 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.07E-06 0
L/P 22308 Ig-126 44 None 0.8894 None 1.0 N 0.825 0.725 0.718142918398 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 22994 Ig-128 45 rs183056142 0.0846 0.118 None N 0.274 0.11 None gnomAD-2.1.1 5E-05 None None None None N None 0 2.83E-05 None 0 6.18876E-04 None 0 None 0 0 1.40489E-04
T/I 22994 Ig-128 45 rs183056142 0.0846 0.118 None N 0.274 0.11 None gnomAD-3.1.2 1.25447E-04 None None None None N None 0 6.61E-05 0 0 3.50058E-03 None 0 0 0 0 0
T/I 22994 Ig-128 45 rs183056142 0.0846 0.118 None N 0.274 0.11 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
T/I 22994 Ig-128 45 rs183056142 0.0846 0.118 None N 0.274 0.11 None gnomAD-4.0.0 2.73443E-04 None None None None N None 0 3.34158E-05 None 0 9.72502E-03 None 0 0 0 0 6.40512E-05
A/G 23389 Ig-129 45 rs1194442496 0.2101 None 0.067 N 0.369 0.216 0.216624796971 gnomAD-3.1.2 1.32E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
A/G 23389 Ig-129 45 rs1194442496 0.2101 None 0.067 N 0.369 0.216 0.216624796971 gnomAD-4.0.0 1.31543E-05 None None None None N None 2.41394E-05 0 None 0 0 None 0 0 1.47093E-05 0 0
A/T 23389 Ig-129 45 rs1709937178 0.4853 None 0.994 N 0.667 0.291 0.333651784274 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 24076 Ig-131 48 rs202098308 0.0934 -1.677 0.64 N 0.596 0.114 None gnomAD-2.1.1 7.17E-05 None None None None N None 0 0 None 0 0 None 0 None 2.00497E-04 1.17531E-04 0
L/V 24076 Ig-131 48 rs202098308 0.0934 -1.677 0.64 N 0.596 0.114 None gnomAD-3.1.2 6.57E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47085E-04 0 0
L/V 24076 Ig-131 48 rs202098308 0.0934 -1.677 0.64 N 0.596 0.114 None gnomAD-4.0.0 4.90226E-05 None None None None N None 0 0 None 0 0 None 1.876E-04 0 5.51612E-05 0 3.20698E-05
L/S 25158 Ig-134 48 None 0.3568 None 0.967 N 0.679 0.525 0.783148497913 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 7.32654E-05
I/F 25844 Ig-136 47 rs1216073181 0.2674 None None N 0.218 0.256 0.187945064343 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85977E-06 0 0
I/V 25844 Ig-136 47 rs1216073181 0.0696 -1.611 None N 0.115 0.217 0.203808441222 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66389E-04
I/V 25844 Ig-136 47 rs1216073181 0.0696 -1.611 None N 0.115 0.217 0.203808441222 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02535E-05
C/Y 26240 Ig-137 48 rs1575695077 0.2401 None None N 0.273 0.093 0.220303561663 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
C/Y 26240 Ig-137 48 rs1575695077 0.2401 None None N 0.273 0.093 0.220303561663 gnomAD-4.0.0 3.11452E-06 None None None None N None 0 3.41227E-05 None 0 0 None 0 0 2.54993E-06 0 0
V/L 26926 Ig-139 47 rs769499232 0.1802 -0.912 None N 0.163 0.143 0.239901079897 gnomAD-2.1.1 2.82E-05 None None None None N None 0 0 None 0 3.89842E-04 None 0 None 0 0 0
V/L 26926 Ig-139 47 rs769499232 0.1802 -0.912 None N 0.163 0.143 0.239901079897 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 3.86698E-04 None 0 0 0 0 0
V/L 26926 Ig-139 47 rs769499232 0.1802 -0.912 None N 0.163 0.143 0.239901079897 gnomAD-4.0.0 8.05718E-06 None None None None N None 0 0 None 0 2.8979E-04 None 0 0 0 0 0
M/T 27323 Ig-140 46 rs1176526187 0.1815 -1.718 0.994 N 0.691 0.485 0.724833077695 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
M/T 27323 Ig-140 46 rs1176526187 0.1815 -1.718 0.994 N 0.691 0.485 0.724833077695 gnomAD-4.0.0 3.18262E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86541E-05 0
V/A 28009 Ig-142 47 rs1337839201 0.5508 -1.793 0.999 N 0.539 0.477 0.69600953434 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
V/A 28009 Ig-142 47 rs1337839201 0.5508 -1.793 0.999 N 0.539 0.477 0.69600953434 gnomAD-4.0.0 1.85981E-06 None None None None N None 1.33583E-05 0 None 0 0 None 0 0 0 1.09856E-05 1.60185E-05
V/D 28009 Ig-142 47 None 0.909 -1.397 1.0 N 0.81 0.671 0.890010646008 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
V/D 28009 Ig-142 47 None 0.909 -1.397 1.0 N 0.81 0.671 0.890010646008 gnomAD-4.0.0 1.36892E-06 None None None None N None 0 0 None 0 2.52832E-05 None 0 0 8.99643E-07 0 0
V/F 28009 Ig-142 47 rs770470074 0.2747 -1.411 1.0 D 0.786 0.441 0.85955502653 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
V/F 28009 Ig-142 47 rs770470074 0.2747 -1.411 1.0 D 0.786 0.441 0.85955502653 gnomAD-4.0.0 6.84472E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16034E-05 0
V/G 28009 Ig-142 47 rs1337839201 0.5724 None 1.0 D 0.78 0.66 0.920757238843 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
V/G 28009 Ig-142 47 rs1337839201 0.5724 None 1.0 D 0.78 0.66 0.920757238843 gnomAD-4.0.0 6.57626E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47046E-05 0 0
V/I 28009 Ig-142 47 None 0.0766 None 0.997 N 0.551 0.297 0.595871345579 gnomAD-4.0.0 6.84472E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99628E-07 0 0
T/I 28404 Ig-143 47 rs368218177 0.1255 0.18 None N 0.265 0.092 None gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
T/I 28404 Ig-143 47 rs368218177 0.1255 0.18 None N 0.265 0.092 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
T/I 28404 Ig-143 47 rs368218177 0.1255 0.18 None N 0.265 0.092 None gnomAD-4.0.0 2.02998E-06 None None None None N None 1.74789E-05 0 None 0 0 None 0 0 1.20493E-06 0 0
F/S 29091 Ig-145 47 None 0.8325 None 1.0 D 0.791 0.619 0.78271780837 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-05
V/A 29487 Ig-146 44 rs2154153415 0.3362 None 0.165 N 0.589 0.256 0.680330652673 gnomAD-4.0.0 2.73706E-06 None None None None N None 0 0 None 0 7.57691E-05 None 0 0 8.99468E-07 0 0
V/L 29487 Ig-146 44 rs200899806 0.165 -0.738 None N 0.157 0.1 0.32082282376 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
V/L 29487 Ig-146 44 rs200899806 0.165 -0.738 None N 0.157 0.1 0.32082282376 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/L 29487 Ig-146 44 rs200899806 0.165 -0.738 None N 0.157 0.1 0.32082282376 gnomAD-4.0.0 6.84272E-07 None None None None N None 0 2.23664E-05 None 0 0 None 0 0 0 0 0
V/M 29487 Ig-146 44 None 0.1773 -0.776 0.457 N 0.653 0.092 None gnomAD-2.1.1 6.93754E-04 None None None None N None 4.13E-05 1.13276E-03 None 8.13323E-03 0 None 0 None 0 4.3839E-04 1.82944E-03
V/M 29487 Ig-146 44 None 0.1773 -0.776 0.457 N 0.653 0.092 None gnomAD-3.1.2 9.00522E-04 None None None None N None 4.83E-05 4.45551E-03 0 1.15274E-02 0 None 0 0 3.82173E-04 0 4.78469E-04
V/M 29487 Ig-146 44 None 0.1773 -0.776 0.457 N 0.653 0.092 None gnomAD-4.0.0 6.04261E-04 None None None None N None 4.00481E-05 1.90089E-03 None 8.34459E-03 0 None 0 0 4.62796E-04 0 1.0409E-03
V/L 30178 Ig-148 47 None 0.1661 None 0.001 N 0.175 0.161 0.389750110748 gnomAD-4.0.0 1.64371E-06 None None None None N None 0 0 None 0 0 None 0 0 2.94822E-06 0 0
M/I 30573 Ig-149 42 rs756674702 0.1344 -1.515 None N 0.083 0.082 0.364141725642 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
M/I 30573 Ig-149 42 rs756674702 0.1344 -1.515 None N 0.083 0.082 0.364141725642 gnomAD-4.0.0 1.59126E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85838E-06 0 0
V/E 31262 Ig-151 45 None 0.7306 None 0.484 D 0.68 0.571 0.784914850903 gnomAD-4.0.0 3.18217E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71556E-06 0 0
V/G 31262 Ig-151 45 None 0.509 None 0.317 N 0.696 0.525 0.767050086336 gnomAD-4.0.0 1.59108E-06 None None None None N None 0 0 None 0 0 None 1.88253E-05 0 0 0 0
V/D 31662 Ig-152 42 rs1164809267 0.7339 -1.643 0.484 N 0.707 0.655 0.79693206861 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
V/D 31662 Ig-152 42 rs1164809267 0.7339 -1.643 0.484 N 0.707 0.655 0.79693206861 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
V/D 31662 Ig-152 42 rs1164809267 0.7339 -1.643 0.484 N 0.707 0.655 0.79693206861 gnomAD-4.0.0 2.56243E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78638E-06 0 0
V/L 31662 Ig-152 42 None 0.1684 None 0.004 N 0.383 0.061 0.515938915144 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/E 32059 Ig-153 43 rs769741768 0.9689 -0.674 0.984 D 0.607 0.376 0.603512723014 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
A/E 32059 Ig-153 43 rs769741768 0.9689 -0.674 0.984 D 0.607 0.376 0.603512723014 gnomAD-4.0.0 4.77427E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71742E-06 0 3.02517E-05
V/I 32353 Ig-154 47 rs1250490166 0.0777 -0.724 0.003 N 0.217 0.053 0.313210971179 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/I 32353 Ig-154 47 rs1250490166 0.0777 -0.724 0.003 N 0.217 0.053 0.313210971179 gnomAD-4.0.0 1.36841E-06 None None None None N None 0 0 None 0 2.51915E-05 None 0 0 8.99473E-07 0 0
A/T 32749 Ig-155 42 rs1693506739 0.4656 None 1.0 N 0.704 0.317 0.542675667512 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
I/F 33243 Ig-157 41 None 0.2134 None 0.851 N 0.631 0.18 0.557129077062 gnomAD-4.0.0 1.59163E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85876E-06 0 0
Y/H 33543 Ig-158 48 None 0.5219 None 0.994 D 0.528 0.451 0.488477830397 gnomAD-4.0.0 1.5917E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85896E-06 0 0
Y/D 33642 Ig-159 47 rs774270109 0.9369 -3.443 1.0 N 0.776 0.622 0.813587418085 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
Y/D 33642 Ig-159 47 rs774270109 0.9369 -3.443 1.0 N 0.776 0.622 0.813587418085 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
Y/D 33642 Ig-159 47 rs774270109 0.9369 -3.443 1.0 N 0.776 0.622 0.813587418085 gnomAD-4.0.0 3.09845E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23808E-06 0 0
Y/C 34307 Ig-161 50 None 0.7123 None 1.0 D 0.871 0.626 0.781510581047 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
Y/N 34307 Ig-161 50 rs769306235 0.8301 -2.769 1.0 D 0.884 0.658 None gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.66E-05 0
Y/N 34307 Ig-161 50 rs769306235 0.8301 -2.769 1.0 D 0.884 0.658 None gnomAD-4.0.0 1.84726E-05 None None None None N None 0 0 None 0 0 None 0 0 2.33846E-05 0 1.65645E-05
I/T 34409 Ig-162 47 rs879013405 0.1742 -2.204 0.324 N 0.509 0.335 None gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
I/T 34409 Ig-162 47 rs879013405 0.1742 -2.204 0.324 N 0.509 0.335 None gnomAD-4.0.0 2.05287E-06 None None None None N None 0 2.23614E-05 None 0 0 None 0 0 8.99418E-07 1.15931E-05 0
I/L 34988 Ig-163 47 rs1420224634 0.2694 -0.94 0.675 N 0.326 0.191 0.580864329964 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/L 34988 Ig-163 47 rs1420224634 0.2694 -0.94 0.675 N 0.326 0.191 0.580864329964 gnomAD-4.0.0 6.84143E-07 None None None None N None 0 0 None 0 2.51889E-05 None 0 0 0 0 0
I/N 34988 Ig-163 47 None 0.8841 None 0.988 N 0.589 0.511 0.818383550975 gnomAD-4.0.0 4.77271E-06 None None None None N None 0 0 None 0 8.31716E-05 None 0 0 0 0 0
I/V 34988 Ig-163 47 None 0.193 None 0.675 N 0.336 0.168 0.567643136482 gnomAD-4.0.0 2.05243E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69821E-06 0 0
H/Q 35175 Ig-164 47 rs1215297501 0.2838 None 0.938 N 0.587 0.225 0.241078983079 gnomAD-4.0.0 3.18173E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71497E-06 0 0
H/Y 35175 Ig-164 47 None 0.1024 None 0.001 N 0.156 0.099 0.188950314367 gnomAD-4.0.0 1.59087E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02334E-05
V/A 35748 Ig-168 47 None 0.2562 None 0.024 N 0.463 0.318 0.515149029962 gnomAD-4.0.0 1.59286E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43968E-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.