Structural position:

  • Domain Type: Ig
  • Aligned Position: 43
  • Secondary Structure Element:
  • Secondary Structure Region:

SAVs

SAV Position (IC) Domain Position (Domain) RS
AlphaMissense (IC)
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
T/A 132 Ig-2 29 rs1337018303 0.0729 None 0.005 N 0.161 0.276 0.149567049428 gnomAD-4.0.0 1.59065E-06 None None None -0.226(TCAP) N None 0 0 None 0 2.773E-05 None 0 0 0 0 0
S/F 971 Ig-3 29 None 0.2296 None 0.487 N 0.543 0.271 0.532359089423 gnomAD-4.0.0 1.59055E-06 None None None None I None 0 0 None 4.76554E-05 0 None 0 0 0 0 0
K/Q 1110 Ig-4 29 None 0.2713 None 0.125 N 0.264 0.17 0.190952846119 gnomAD-4.0.0 1.5905E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85654E-06 0 0
L/I 1319 Ig-5 29 rs376633286 0.1509 -0.205 0.239 N 0.551 0.057 None gnomAD-2.1.1 1.6E-05 None None None None I None 2.55689E-04 0 None 0 0 None 0 None 0 0 0
L/I 1319 Ig-5 29 rs376633286 0.1509 -0.205 0.239 N 0.551 0.057 None gnomAD-3.1.2 3.94E-05 None None None None I None 1.20697E-04 0 0 0 0 None 0 0 1.47E-05 0 0
L/I 1319 Ig-5 29 rs376633286 0.1509 -0.205 0.239 N 0.551 0.057 None 1000 genomes 5.99042E-04 None None None None I None 2.3E-03 0 None None 0 0 None None None 0 None
L/I 1319 Ig-5 29 rs376633286 0.1509 -0.205 0.239 N 0.551 0.057 None gnomAD-4.0.0 8.96689E-06 None None None None I None 8.44167E-05 0 None 0 0 None 0 0 2.3923E-06 0 2.84042E-05
M/V 1485 Ig-6 29 rs753632784 0.1627 0.155 0.985 N 0.456 0.369 0.545780674572 gnomAD-2.1.1 7.08E-05 None None None None I None 0 5.64876E-04 None 0 0 None 0 None 0 0 0
M/V 1485 Ig-6 29 rs753632784 0.1627 0.155 0.985 N 0.456 0.369 0.545780674572 gnomAD-3.1.2 1.31E-05 None None None None I None 0 1.30822E-04 0 0 0 None 0 0 0 0 0
M/V 1485 Ig-6 29 rs753632784 0.1627 0.155 0.985 N 0.456 0.369 0.545780674572 gnomAD-4.0.0 1.98264E-05 None None None None I None 1.33451E-05 4.33304E-04 None 0 0 None 0 0 4.23735E-06 0 0
N/K 1584 Ig-7 29 rs879252955 0.3337 0.438 0.986 N 0.357 0.286 0.208000267992 gnomAD-2.1.1 7.08E-06 None None None None I None 8.01E-05 0 None 0 0 None 0 None 0 0 0
N/K 1584 Ig-7 29 rs879252955 0.3337 0.438 0.986 N 0.357 0.286 0.208000267992 gnomAD-3.1.2 1.31E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
N/K 1584 Ig-7 29 rs879252955 0.3337 0.438 0.986 N 0.357 0.286 0.208000267992 gnomAD-4.0.0 5.12256E-06 None None None None I None 6.7659E-05 0 None 0 0 None 0 0 0 0 0
N/S 1584 Ig-7 29 rs2092326509 0.0741 None 0.986 N 0.311 0.151 0.284150004643 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
N/S 1584 Ig-7 29 rs2092326509 0.0741 None 0.986 N 0.311 0.151 0.284150004643 gnomAD-4.0.0 2.47832E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54241E-06 0 1.60031E-05
T/A 1733 Ig-8 31 rs759175898 0.1865 -0.343 0.999 N 0.554 0.543 0.302459207581 gnomAD-2.1.1 1.2E-05 None None None None I None 0 0 None 0 5.46E-05 None 3.27E-05 None 0 8.83E-06 0
T/A 1733 Ig-8 31 rs759175898 0.1865 -0.343 0.999 N 0.554 0.543 0.302459207581 gnomAD-4.0.0 4.78868E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69788E-06 3.47794E-05 1.6559E-05
T/K 1733 Ig-8 31 rs367700246 0.8245 -0.346 1.0 N 0.689 0.587 0.466655310336 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 5.46E-05 None 0 None 0 0 0
T/K 1733 Ig-8 31 rs367700246 0.8245 -0.346 1.0 N 0.689 0.587 0.466655310336 gnomAD-4.0.0 6.84097E-07 None None None None I None 0 0 None 0 2.52131E-05 None 0 0 0 0 0
T/M 1733 Ig-8 31 rs367700246 0.2926 0.23 1.0 N 0.556 0.608 None gnomAD-2.1.1 2.7641E-04 None None None None I None 0 3.39117E-04 None 4.15298E-03 0 None 9.8E-05 None 0 1.08804E-04 8.32639E-04
T/M 1733 Ig-8 31 rs367700246 0.2926 0.23 1.0 N 0.556 0.608 None gnomAD-3.1.2 1.31408E-04 None None None None I None 0 0 0 4.61095E-03 0 None 0 0 2.94E-05 4.1425E-04 0
T/M 1733 Ig-8 31 rs367700246 0.2926 0.23 1.0 N 0.556 0.608 None gnomAD-4.0.0 1.3507E-04 None None None None I None 0 2.33357E-04 None 4.5602E-03 4.45911E-05 None 0 0 3.2203E-05 7.68504E-05 3.52101E-04
Q/K 1869 Ig-9 29 None 0.2079 None 0.425 N 0.283 0.167 0.187945064343 gnomAD-4.0.0 1.59055E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85657E-06 0 0
Q/R 1869 Ig-9 29 rs770347404 0.2477 0.249 0.642 N 0.285 0.265 0.202086224978 gnomAD-2.1.1 3.58E-05 None None None None I None 0 2.60221E-04 None 0 0 None 0 None 0 0 0
Q/R 1869 Ig-9 29 rs770347404 0.2477 0.249 0.642 N 0.285 0.265 0.202086224978 gnomAD-3.1.2 1.31E-05 None None None None I None 0 6.54E-05 0 0 0 None 0 0 0 0 4.77555E-04
Q/R 1869 Ig-9 29 rs770347404 0.2477 0.249 0.642 N 0.285 0.265 0.202086224978 gnomAD-4.0.0 1.66462E-05 None None None None I None 0 2.03314E-04 None 0 0 None 0 0 0 0 2.84172E-05
D/E 2106 Ig-10 29 None 0.3462 None 0.767 N 0.231 0.171 0.253205268125 gnomAD-4.0.0 4.7888E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29519E-06 0 0
D/H 2106 Ig-10 29 rs774275945 0.6907 0.022 1.0 N 0.636 0.58 0.440810947182 gnomAD-2.1.1 2.83E-05 None None None None N None 0 0 None 0 4.02334E-04 None 0 None 0 0 0
D/H 2106 Ig-10 29 rs774275945 0.6907 0.022 1.0 N 0.636 0.58 0.440810947182 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.85951E-04 None 0 0 0 0 0
D/H 2106 Ig-10 29 rs774275945 0.6907 0.022 1.0 N 0.636 0.58 0.440810947182 gnomAD-4.0.0 4.33739E-06 None None None None N None 0 0 None 0 1.33797E-04 None 0 0 0 0 1.60046E-05
F/L 2202 Ig-11 29 None 0.9268 None 0.999 N 0.632 0.503 0.373537453441 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 1.01626E-03 None 0 0 None 0 0 0 0 0
F/S 2202 Ig-11 29 rs773658956 0.6257 -0.488 1.0 N 0.697 0.584 0.774422930106 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
F/S 2202 Ig-11 29 rs773658956 0.6257 -0.488 1.0 N 0.697 0.584 0.774422930106 gnomAD-4.0.0 7.20193E-06 None None None None N None 0 0 None 0 0 None 0 0 7.87501E-06 0 0
S/I 2383 Ig-13 28 None 0.209 None 0.013 N 0.288 0.15 0.425970041486 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
S/N 2383 Ig-13 28 rs2091903578 0.0463 None None N 0.07 0.151 0.0716867268079 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
S/N 2383 Ig-13 28 rs2091903578 0.0463 None None N 0.07 0.151 0.0716867268079 gnomAD-4.0.0 2.02979E-06 None None None None I None 1.74685E-05 0 None 0 0 None 0 0 1.2049E-06 0 0
S/R 2383 Ig-13 28 rs770123979 0.3368 0.132 0.001 N 0.253 0.17 0.0716867268079 gnomAD-2.1.1 7.97E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 8.82E-06 0
S/R 2383 Ig-13 28 rs770123979 0.3368 0.132 0.001 N 0.253 0.17 0.0716867268079 gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 1.92604E-04 None 0 0 0 2.07125E-04 4.78011E-04
S/R 2383 Ig-13 28 rs770123979 0.3368 0.132 0.001 N 0.253 0.17 0.0716867268079 gnomAD-4.0.0 6.81487E-06 None None None None I None 0 0 None 0 2.22886E-05 None 0 0 5.0848E-06 2.19587E-05 3.1998E-05
V/L 2473 Ig-14 29 None 0.5166 None 0.521 N 0.463 0.198 0.52540932818 gnomAD-4.0.0 1.59073E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85675E-06 0 0
V/M 2473 Ig-14 29 rs1204779013 0.3607 -0.527 0.76 N 0.479 0.19 0.540288329166 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/M 2473 Ig-14 29 rs1204779013 0.3607 -0.527 0.76 N 0.479 0.19 0.540288329166 gnomAD-4.0.0 4.77218E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57025E-06 0 0
D/Y 2647 Ig-16 27 rs1252111410 0.1795 -0.087 0.741 N 0.487 0.342 0.579693371445 gnomAD-2.1.1 3.18E-05 None None None None N None 1.14784E-04 0 None 0 0 None 0 None 0 0 0
D/Y 2647 Ig-16 27 rs1252111410 0.1795 -0.087 0.741 N 0.487 0.342 0.579693371445 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
D/Y 2647 Ig-16 27 rs1252111410 0.1795 -0.087 0.741 N 0.487 0.342 0.579693371445 gnomAD-4.0.0 1.97176E-05 None None None None N None 7.24288E-05 0 None 0 0 None 0 0 0 0 0
V/A 2735 Ig-17 29 rs1352413380 0.475 -1.445 0.958 N 0.554 0.327 0.662113396273 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
V/A 2735 Ig-17 29 rs1352413380 0.475 -1.445 0.958 N 0.554 0.327 0.662113396273 gnomAD-4.0.0 3.42038E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49648E-06 0 0
T/I 2822 Ig-18 28 None 0.3769 None 0.996 N 0.395 0.452 0.583209036909 gnomAD-4.0.0 1.36814E-06 None None None None I None 0 0 None 0 0 None 0 0 8.99294E-07 0 1.65574E-05
V/I 2910 Ig-19 29 None 0.1957 None 0.767 N 0.405 0.213 0.646496053153 gnomAD-4.0.0 1.59049E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
G/D 2996 Ig-20 28 None 0.2645 -0.466 0.999 N 0.655 0.442 0.396494342077 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
G/D 2996 Ig-20 28 None 0.2645 -0.466 0.999 N 0.655 0.442 0.396494342077 gnomAD-4.0.0 6.84097E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
G/S 2996 Ig-20 28 None 0.2184 None 0.999 N 0.679 0.366 0.352693368174 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
G/V 2996 Ig-20 28 rs779053650 0.7188 None 0.999 N 0.724 0.449 0.851011966879 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
G/V 2996 Ig-20 28 rs779053650 0.7188 None 0.999 N 0.724 0.449 0.851011966879 gnomAD-4.0.0 3.09801E-06 None None None None N None 1.33494E-05 0 None 0 0 None 0 0 3.38983E-06 0 0
D/G 3085 Ig-21 28 None 0.3756 None 0.334 N 0.441 0.406 0.28492961333 gnomAD-4.0.0 1.20034E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
D/A 3174 Ig-22 28 None 0.5723 None 0.999 D 0.655 0.559 0.578554888259 gnomAD-4.0.0 1.59067E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85659E-06 0 0
D/N 3174 Ig-22 28 rs984157404 0.2624 0.647 1.0 N 0.715 0.368 0.347879110917 gnomAD-2.1.1 1.06E-05 None None None None I None 4E-05 2.82E-05 None 0 0 None 0 None 0 7.77E-06 0
D/N 3174 Ig-22 28 rs984157404 0.2624 0.647 1.0 N 0.715 0.368 0.347879110917 gnomAD-3.1.2 1.31E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
D/N 3174 Ig-22 28 rs984157404 0.2624 0.647 1.0 N 0.715 0.368 0.347879110917 gnomAD-4.0.0 5.57641E-06 None None None None I None 4.00384E-05 1.667E-05 None 0 4.45831E-05 None 0 0 2.54239E-06 0 0
D/Y 3174 Ig-22 28 None 0.6612 None 1.0 D 0.673 0.631 0.781116581806 gnomAD-4.0.0 6.84103E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99311E-07 0 0
Q/K 3267 Ig-23 29 None 0.105 None 0.454 N 0.38 0.303 0.224531998449 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
D/G 3372 Ig-24 28 None 0.2762 None 1.0 N 0.615 None 0.409262747536 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
D/H 3372 Ig-24 28 rs749110401 0.4474 0.007 1.0 D 0.606 0.581 0.461845970543 gnomAD-2.1.1 3.98E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.8E-06 0
D/V 3372 Ig-24 28 None 0.4212 None 1.0 D 0.742 None 0.739606122391 gnomAD-4.0.0 2.40065E-06 None None None None I None 1.26695E-04 0 None 0 0 None 0 0 0 0 0
K/Q 3493 Ig-25 29 None 0.1768 None None None None 0.16 None gnomAD-4.0.0 1.59108E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85802E-06 0 0
F/S 3688 Ig-26 29 rs377296133 0.0655 -0.61 None None None 0.089 None gnomAD-2.1.1 5.71E-05 None None None None I None 0 0 None 9.67E-05 0 None 0 None 0 1.17177E-04 0
F/S 3688 Ig-26 29 rs377296133 0.0655 -0.61 None None None 0.089 None gnomAD-3.1.2 4.6E-05 None None None None I None 0 0 0 0 0 None 0 0 1.02905E-04 0 0
F/S 3688 Ig-26 29 rs377296133 0.0655 -0.61 None None None 0.089 None gnomAD-4.0.0 2.29288E-05 None None None None I None 0 0 None 3.37769E-05 0 None 0 0 2.8818E-05 0 3.20174E-05
K/E 3848 Ig-27 29 None 0.1876 None 0.22 N 0.604 0.172 None gnomAD-4.0.0 6.84212E-07 None None None None I None 2.98793E-05 0 None 0 0 None 0 0 0 0 0
A/D 3966 Ig-28 29 None 0.1914 None 0.055 N 0.499 0.053 None gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
A/V 4632 Ig-29 27 rs1225957839 0.1919 -0.424 0.003 N 0.233 0.073 None gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
A/V 4632 Ig-29 27 rs1225957839 0.1919 -0.424 0.003 N 0.233 0.073 None gnomAD-4.0.0 4.77392E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57437E-06 0 0
N/T 4728 Ig-30 29 None 0.1321 None 0.024 N 0.285 0.072 0.233150807113 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
V/M 4823 Ig-31 29 None 0.1093 None 0.484 N 0.329 0.119 0.398133443147 gnomAD-4.0.0 1.59138E-06 None None None None I None 0 0 None 0 2.77423E-05 None 0 0 0 0 0
K/E 4916 Ig-32 29 rs376597173 0.1399 0.2 0.959 N 0.337 0.225 None gnomAD-2.1.1 7.14E-05 None None None None N None 4.13E-05 8.49E-05 None 0 0 None 0 None 0 1.24957E-04 0
K/E 4916 Ig-32 29 rs376597173 0.1399 0.2 0.959 N 0.337 0.225 None gnomAD-3.1.2 1.31403E-04 None None None None N None 9.65E-05 0 0 0 0 None 0 0 2.20459E-04 0 4.78011E-04
K/E 4916 Ig-32 29 rs376597173 0.1399 0.2 0.959 N 0.337 0.225 None gnomAD-4.0.0 1.1898E-04 None None None None N None 6.67289E-05 8.33528E-05 None 0 0 None 0 0 1.47479E-04 0 1.28094E-04
P/L 5103 Ig-34 29 None 0.3409 None 1.0 D 0.694 0.507 0.82247249236 gnomAD-4.0.0 1.59216E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85987E-06 0 0
P/T 5103 Ig-34 29 None 0.3311 None 1.0 D 0.677 0.461 0.60416271137 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
P/A 5385 Ig-37 29 rs368729048 0.7683 0.026 0.996 N 0.586 0.421 None gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
P/A 5385 Ig-37 29 rs368729048 0.7683 0.026 0.996 N 0.586 0.421 None gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/A 5385 Ig-37 29 rs368729048 0.7683 0.026 0.996 N 0.586 0.421 None gnomAD-4.0.0 6.08985E-06 None None None None I None 0 0 None 0 0 None 0 0 7.22956E-06 0 0
P/L 5478 Ig-38 29 rs1391157831 0.3569 0.16 0.992 N 0.658 0.4 0.672509336206 gnomAD-2.1.1 4.04E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
P/L 5478 Ig-38 29 rs1391157831 0.3569 0.16 0.992 N 0.658 0.4 0.672509336206 gnomAD-4.0.0 1.59225E-06 None None None None I None 0 2.2899E-05 None 0 0 None 0 0 0 0 0
P/S 5478 Ig-38 29 rs1302659663 0.3049 -0.032 1.0 D 0.663 0.425 0.440394187108 gnomAD-2.1.1 8.07E-06 None None None None I None 0 5.82E-05 None 0 0 None 0 None 0 0 0
P/S 5478 Ig-38 29 rs1302659663 0.3049 -0.032 1.0 D 0.663 0.425 0.440394187108 gnomAD-4.0.0 2.05318E-06 None None None None I None 0 4.47908E-05 None 0 0 None 0 0 0 0 1.65711E-05
P/L 5665 Ig-40 29 rs771714891 0.2833 0.122 1.0 N 0.703 0.429 0.803572451131 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/L 5665 Ig-40 29 rs771714891 0.2833 0.122 1.0 N 0.703 0.429 0.803572451131 gnomAD-4.0.0 1.36847E-06 None None None None I None 0 0 None 0 0 None 0 0 0 2.31879E-05 0
P/S 5665 Ig-40 29 rs775278050 0.3057 -0.309 1.0 N 0.698 0.408 0.457377140028 gnomAD-2.1.1 1.21E-05 None None None None I None 0 0 None 0 0 None 9.81E-05 None 0 0 0
P/S 5665 Ig-40 29 rs775278050 0.3057 -0.309 1.0 N 0.698 0.408 0.457377140028 gnomAD-3.1.2 1.31E-05 None None None None I None 0 0 0 0 0 None 0 0 0 4.1425E-04 0
P/S 5665 Ig-40 29 rs775278050 0.3057 -0.309 1.0 N 0.698 0.408 0.457377140028 gnomAD-4.0.0 7.68705E-06 None None None None I None 0 0 None 0 0 None 0 0 0 8.04052E-05 0
P/A 5758 Ig-41 29 rs778057891 0.6658 0.117 0.998 N 0.636 0.486 0.448000600372 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/A 5758 Ig-41 29 rs778057891 0.6658 0.117 0.998 N 0.636 0.486 0.448000600372 gnomAD-4.0.0 1.23959E-06 None None None None I None 0 0 None 0 0 None 0 0 1.6953E-06 0 0
P/L 5758 Ig-41 29 None 0.7787 None 0.999 N 0.682 0.46 0.802788045409 gnomAD-4.0.0 1.20032E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
P/T 5758 Ig-41 29 None 0.7842 None 0.999 N 0.638 0.439 0.570999777189 gnomAD-4.0.0 6.84308E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99518E-07 0 0
E/G 5851 Ig-42 29 rs547188027 0.1251 0.064 0.117 N 0.462 0.248 0.384752662912 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
E/G 5851 Ig-42 29 rs547188027 0.1251 0.064 0.117 N 0.462 0.248 0.384752662912 1000 genomes 1.99681E-04 None None None None I None 0 1.4E-03 None None 0 0 None None None 0 None
E/G 5851 Ig-42 29 rs547188027 0.1251 0.064 0.117 N 0.462 0.248 0.384752662912 gnomAD-4.0.0 6.56832E-06 None None None None I None 0 6.54622E-05 None 0 0 None 0 0 0 0 0
E/K 5851 Ig-42 29 rs878877605 0.1543 0.697 0.117 N 0.339 0.24 None gnomAD-2.1.1 1.07E-05 None None None None I None 1.23987E-04 0 None 0 0 None 0 None 0 0 0
E/K 5851 Ig-42 29 rs878877605 0.1543 0.697 0.117 N 0.339 0.24 None gnomAD-3.1.2 3.95E-05 None None None None I None 1.44837E-04 0 0 0 0 None 0 0 0 0 0
E/K 5851 Ig-42 29 rs878877605 0.1543 0.697 0.117 N 0.339 0.24 None gnomAD-4.0.0 9.13528E-06 None None None None I None 1.5731E-04 0 None 0 0 None 0 0 0 0 0
E/V 5851 Ig-42 29 rs547188027 0.1758 None 0.002 N 0.353 0.281 0.497871611283 gnomAD-4.0.0 1.56042E-05 None None None None I None 0 0 None 0 0 None 0 0 1.575E-05 0 3.66327E-05
P/A 5947 Ig-43 29 None 0.8199 None 1.0 N 0.655 0.513 0.457922657367 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
P/S 6040 Ig-44 29 None 0.3312 None 1.0 N 0.681 0.469 0.516050471323 gnomAD-4.0.0 6.84735E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65815E-05
P/T 6040 Ig-44 29 None 0.3096 None 1.0 D 0.672 0.471 0.635285018509 gnomAD-4.0.0 1.36947E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79968E-06 0 0
P/L 6227 Ig-46 29 rs376846228 0.1889 0.123 1.0 N 0.685 0.462 None gnomAD-2.1.1 1.43E-05 None None None None I None 4.13E-05 0 None 0 0 None 3.27E-05 None 0 1.57E-05 0
P/L 6227 Ig-46 29 rs376846228 0.1889 0.123 1.0 N 0.685 0.462 None gnomAD-3.1.2 3.29E-05 None None None None I None 7.24E-05 0 0 0 0 None 0 0 2.94E-05 0 0
P/L 6227 Ig-46 29 rs376846228 0.1889 0.123 1.0 N 0.685 0.462 None gnomAD-4.0.0 8.05746E-06 None None None None I None 6.67931E-05 0 None 3.38021E-05 0 None 0 0 4.23857E-06 1.09794E-05 1.60128E-05
P/H 6320 Ig-47 29 rs886246785 0.3756 None 1.0 D 0.533 0.463 0.590966807702 gnomAD-3.1.2 1.97E-05 None None None None I None 7.24E-05 0 0 0 0 None 0 0 0 0 0
P/H 6320 Ig-47 29 rs886246785 0.3756 None 1.0 D 0.533 0.463 0.590966807702 gnomAD-4.0.0 4.96173E-06 None None None None I None 1.06855E-04 0 None 0 0 None 0 0 0 0 0
P/L 6320 Ig-47 29 None 0.2778 None 0.961 N 0.503 0.355 0.682110513636 gnomAD-4.0.0 6.84815E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99878E-07 0 0
P/R 6320 Ig-47 29 None 0.358 None 0.997 N 0.531 0.451 0.535774538982 gnomAD-4.0.0 2.05445E-06 None None None None I None 0 2.24638E-05 None 0 0 None 0 0 1.79976E-06 0 0
P/L 6509 Ig-49 29 None 0.6373 None 0.967 N 0.671 0.531 0.698156398671 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
P/S 6509 Ig-49 29 rs764314153 0.6662 -0.896 0.892 N 0.526 0.519 0.479056812784 gnomAD-2.1.1 8.08E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.79E-05 0
P/S 6509 Ig-49 29 rs764314153 0.6662 -0.896 0.892 N 0.526 0.519 0.479056812784 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.77555E-04
P/S 6509 Ig-49 29 rs764314153 0.6662 -0.896 0.892 N 0.526 0.519 0.479056812784 gnomAD-4.0.0 3.09976E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54342E-06 1.09837E-05 1.60226E-05
P/Q 6602 Ig-50 29 rs749229040 0.3278 -0.123 1.0 D 0.635 0.448 0.492267288202 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
P/Q 6602 Ig-50 29 rs749229040 0.3278 -0.123 1.0 D 0.635 0.448 0.492267288202 gnomAD-4.0.0 6.3705E-06 None None None None I None 0 0 None 0 8.3227E-05 None 0 0 2.86113E-06 0 0
P/R 6602 Ig-50 29 rs749229040 0.3608 None 1.0 N 0.664 0.507 0.571380689955 gnomAD-3.1.2 1.32E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
P/R 6602 Ig-50 29 rs749229040 0.3608 None 1.0 N 0.664 0.507 0.571380689955 gnomAD-4.0.0 1.31506E-05 None None None None I None 4.82719E-05 0 None 0 0 None 0 0 0 0 0
P/S 6602 Ig-50 29 None 0.2395 None 1.0 N 0.671 0.475 0.527908583987 gnomAD-4.0.0 1.5926E-06 None None None None I None 0 0 None 0 0 None 0 0 2.8611E-06 0 0
E/A 6696 Ig-51 30 rs764124148 0.1339 -0.14 0.008 N 0.419 0.272 0.294918367191 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.58E-05 None 0 None 0 0 0
E/A 6696 Ig-51 30 rs764124148 0.1339 -0.14 0.008 N 0.419 0.272 0.294918367191 gnomAD-4.0.0 1.5928E-06 None None None None I None 0 0 None 0 2.77593E-05 None 0 0 0 0 0
E/G 6696 Ig-51 30 rs764124148 0.1812 -0.504 0.063 N 0.459 0.312 0.35139820857 gnomAD-2.1.1 4.03E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
E/G 6696 Ig-51 30 rs764124148 0.1812 -0.504 0.063 N 0.459 0.312 0.35139820857 gnomAD-4.0.0 3.18561E-06 None None None None I None 0 4.57959E-05 None 0 0 None 0 0 0 0 0
P/L 6789 Ig-52 29 rs1480351925 0.4215 0.098 1.0 N 0.689 0.466 0.813777372686 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
P/L 6789 Ig-52 29 rs1480351925 0.4215 0.098 1.0 N 0.689 0.466 0.813777372686 gnomAD-4.0.0 1.02734E-05 None None None None N None 0 0 None 0 0 None 0 0 1.35015E-05 0 0
P/L 6882 Ig-53 29 rs1299399084 0.5923 -0.138 1.0 D 0.725 0.5 0.860948595624 gnomAD-2.1.1 3.18E-05 None None None None I None 0 0 None 0 6.45161E-04 None 0 None 0 0 0
P/L 6882 Ig-53 29 rs1299399084 0.5923 -0.138 1.0 D 0.725 0.5 0.860948595624 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 1.93199E-04 None 0 0 0 0 0
P/L 6882 Ig-53 29 rs1299399084 0.5923 -0.138 1.0 D 0.725 0.5 0.860948595624 gnomAD-4.0.0 6.57644E-06 None None None None I None 0 0 None 0 1.93199E-04 None 0 0 0 0 0
P/H 7072 Ig-55 29 rs1370301283 0.5167 0.234 1.0 D 0.649 0.496 0.747146340571 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 9.97E-05 0 None 0 None 0 0 0
P/L 7165 Ig-56 29 rs1370391729 0.2793 0.107 1.0 N 0.69 0.436 0.811862050649 gnomAD-2.1.1 4.04E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
P/L 7165 Ig-56 29 rs1370391729 0.2793 0.107 1.0 N 0.69 0.436 0.811862050649 gnomAD-4.0.0 1.59299E-06 None None None None I None 0 2.29022E-05 None 0 0 None 0 0 0 0 0
P/S 7258 Ig-57 29 rs761911665 0.2158 -0.35 0.852 N 0.323 0.279 0.411932830014 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.95E-06 0
P/S 7258 Ig-57 29 rs761911665 0.2158 -0.35 0.852 N 0.323 0.279 0.411932830014 gnomAD-4.0.0 1.5918E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85896E-06 0 0
P/S 7447 Ig-59 29 rs749750693 0.3504 0.027 0.999 N 0.625 0.46 0.493628743246 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 9.96E-05 0 None 0 None 0 0 0
P/S 7447 Ig-59 29 rs749750693 0.3504 0.027 0.999 N 0.625 0.46 0.493628743246 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 2.88018E-04 0 None 0 0 0 0 0
P/S 7447 Ig-59 29 rs749750693 0.3504 0.027 0.999 N 0.625 0.46 0.493628743246 gnomAD-4.0.0 2.47938E-06 None None None None I None 0 0 None 1.01392E-04 0 None 0 0 8.47781E-07 0 0
P/L 7543 Ig-60 29 rs560272834 0.3816 0.218 0.974 N 0.551 0.393 0.792249739881 gnomAD-2.1.1 1.04575E-04 None None None None I None 6.47E-05 6.08837E-04 None 0 0 None 3.27E-05 None 0 2.66E-05 0
P/L 7543 Ig-60 29 rs560272834 0.3816 0.218 0.974 N 0.551 0.393 0.792249739881 gnomAD-3.1.2 2.63E-05 None None None None I None 0 1.31096E-04 0 0 0 None 0 0 2.94E-05 0 0
P/L 7543 Ig-60 29 rs560272834 0.3816 0.218 0.974 N 0.551 0.393 0.792249739881 gnomAD-4.0.0 3.65695E-05 None None None None I None 3.99947E-05 4.16736E-04 None 0 0 None 0 0 2.2891E-05 0 6.4041E-05
P/Q 7543 Ig-60 29 None 0.458 None 1.0 N 0.647 0.448 0.655368402236 gnomAD-4.0.0 6.84406E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.16047E-05 0
P/T 7543 Ig-60 29 None 0.3247 None 0.999 N 0.635 0.423 0.576774385015 gnomAD-4.0.0 2.7376E-06 None None None None I None 0 0 None 0 0 None 0 0 0 4.64209E-05 0
P/A 7730 Ig-62 29 rs774547593 0.2878 -0.132 0.998 N 0.657 0.46 0.439445477881 gnomAD-2.1.1 1.61E-05 None None None None I None 0 1.16218E-04 None 0 0 None 0 None 0 0 0
P/A 7730 Ig-62 29 rs774547593 0.2878 -0.132 0.998 N 0.657 0.46 0.439445477881 gnomAD-3.1.2 6.58E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
P/A 7730 Ig-62 29 rs774547593 0.2878 -0.132 0.998 N 0.657 0.46 0.439445477881 gnomAD-4.0.0 6.19891E-06 None None None None I None 0 8.33917E-05 None 0 6.69105E-05 None 0 0 1.69555E-06 0 0
P/S 7730 Ig-62 29 rs774547593 0.4835 -0.053 1.0 N 0.676 0.453 0.437634105008 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
P/S 7730 Ig-62 29 rs774547593 0.4835 -0.053 1.0 N 0.676 0.453 0.437634105008 gnomAD-4.0.0 6.8441E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15993E-05 0
P/L 7823 Ig-63 29 rs2154300491 0.7681 None 1.0 N 0.665 0.518 0.854352048779 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
P/T 7823 Ig-63 29 rs768540966 0.6995 -0.134 0.791 N 0.429 0.333 None gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
P/T 7823 Ig-63 29 rs768540966 0.6995 -0.134 0.791 N 0.429 0.333 None gnomAD-4.0.0 2.1896E-05 None None None None I None 0 0 None 0 8.06289E-04 None 0 0 0 0 0
E/K 7917 Ig-64 29 rs1288323003 0.1692 0.801 0.37 N 0.373 0.28 0.318252033908 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
E/K 7917 Ig-64 29 rs1288323003 0.1692 0.801 0.37 N 0.373 0.28 0.318252033908 gnomAD-4.0.0 2.05276E-06 None None None None I None 0 0 None 0 7.5582E-05 None 0 0 0 0 0
P/L 8013 Ig-65 29 rs773761640 0.3794 0.199 1.0 D 0.701 0.444 None gnomAD-2.1.1 8.04E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 8.89E-06 0
P/L 8013 Ig-65 29 rs773761640 0.3794 0.199 1.0 D 0.701 0.444 None gnomAD-3.1.2 6.58E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
P/L 8013 Ig-65 29 rs773761640 0.3794 0.199 1.0 D 0.701 0.444 None gnomAD-4.0.0 5.57764E-06 None None None None I None 2.67123E-05 1.66778E-05 None 0 0 None 0 0 4.23819E-06 1.09794E-05 0
P/L 8106 Ig-66 29 None 0.3061 None 1.0 N 0.689 0.472 0.688445511621 gnomAD-4.0.0 6.84299E-07 None None None None I None 0 0 None 0 2.52232E-05 None 0 0 0 0 0
P/S 8199 Ig-67 29 rs1438804317 0.113 None 0.27 D 0.393 0.202 0.274366138417 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 4.79386E-04
P/S 8199 Ig-67 29 rs1438804317 0.113 None 0.27 D 0.393 0.202 0.274366138417 gnomAD-4.0.0 4.33807E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08578E-06 0 1.60159E-05
E/Q 8292 Ig-68 29 rs778030351 0.3015 0.355 0.995 N 0.555 0.317 0.342865806769 gnomAD-2.1.1 8.13E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 8.9E-06 0
E/Q 8292 Ig-68 29 rs778030351 0.3015 0.355 0.995 N 0.555 0.317 0.342865806769 gnomAD-4.0.0 4.80143E-06 None None None None I None 0 2.28676E-05 None 0 0 None 0 0 2.85902E-06 1.43291E-05 0
P/A 8388 Ig-69 29 None 0.2814 None 0.974 D 0.561 0.394 0.40032279838 gnomAD-4.0.0 6.8438E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99617E-07 0 0
P/L 8388 Ig-69 29 rs745902643 0.3637 0.17 1.0 N 0.681 0.447 0.732157991247 gnomAD-2.1.1 4.04E-06 None None None None I None 6.48E-05 0 None 0 0 None 0 None 0 0 0
P/L 8388 Ig-69 29 rs745902643 0.3637 0.17 1.0 N 0.681 0.447 0.732157991247 gnomAD-4.0.0 4.10631E-06 None None None None I None 5.97764E-05 0 None 0 0 None 0 0 3.59847E-06 0 0
P/R 8388 Ig-69 29 None 0.5228 None 1.0 N 0.677 0.421 0.551961605406 gnomAD-4.0.0 4.79069E-06 None None None None I None 0 0 None 0 0 None 0 0 6.29733E-06 0 0
P/S 8388 Ig-69 29 rs727503647 0.3932 -0.015 0.958 N 0.426 0.434 0.40218521252 gnomAD-2.1.1 2.02E-05 None None None None I None 0 1.45315E-04 None 0 0 None 0 None 0 0 0
P/S 8388 Ig-69 29 rs727503647 0.3932 -0.015 0.958 N 0.426 0.434 0.40218521252 gnomAD-4.0.0 4.10628E-06 None None None None I None 0 1.34228E-04 None 0 0 None 0 0 0 0 0
P/T 8388 Ig-69 29 rs727503647 0.325 None 0.995 D 0.623 0.39 0.46123363591 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/T 8388 Ig-69 29 rs727503647 0.325 None 0.995 D 0.623 0.39 0.46123363591 gnomAD-4.0.0 2.4794E-06 None None None None I None 0 0 None 0 0 None 0 0 2.54325E-06 0 1.60185E-05
P/Q 8484 Ig-70 29 None 0.4959 None 1.0 N 0.65 0.42 0.585534595853 gnomAD-4.0.0 4.77487E-06 None None None None I None 0 0 None 0 0 None 0 4.82393E-04 0 0 3.02499E-05
P/A 8671 Ig-72 29 rs373927854 0.2806 -0.207 0.998 D 0.662 0.436 0.349870743963 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.56E-05 None 0 None 0 0 0
P/L 8671 Ig-72 29 rs2077292301 0.421 None 1.0 N 0.685 0.491 0.746293652351 gnomAD-4.0.0 1.59142E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85873E-06 0 0
P/S 8671 Ig-72 29 None 0.4377 None 1.0 N 0.679 0.473 0.362960570912 gnomAD-4.0.0 2.40065E-06 None None None None I None 0 0 None 0 0 None 0 0 2.62501E-06 0 0
P/S 8764 Ig-73 29 None 0.2855 None 1.0 N 0.694 0.483 0.512825096792 gnomAD-4.0.0 2.7373E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59826E-06 0 0
P/T 8764 Ig-73 29 None 0.2244 None 1.0 N 0.686 0.469 0.54173910141 gnomAD-4.0.0 6.84326E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65706E-05
E/D 8858 Ig-74 29 None 0.1727 None 0.989 D 0.517 0.264 0.393471546983 gnomAD-4.0.0 1.59157E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85858E-06 0 0
E/Q 8858 Ig-74 29 rs751498825 0.1597 0.251 0.978 N 0.535 0.255 0.385417323374 gnomAD-2.1.1 4.02E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
E/Q 8858 Ig-74 29 rs751498825 0.1597 0.251 0.978 N 0.535 0.255 0.385417323374 gnomAD-4.0.0 1.59163E-06 None None None None I None 0 2.28812E-05 None 0 0 None 0 0 0 0 0
P/L 8954 Ig-75 29 rs752903252 0.3511 0.046 0.999 N 0.667 0.403 0.724535380459 gnomAD-2.1.1 4.12E-06 None None None None I None 0 0 None 0 5.72E-05 None 0 None 0 0 0
P/L 8954 Ig-75 29 rs752903252 0.3511 0.046 0.999 N 0.667 0.403 0.724535380459 gnomAD-4.0.0 2.74301E-06 None None None None I None 0 0 None 0 7.58112E-05 None 0 0 9.00807E-07 0 0
P/L 9140 Ig-77 29 rs371352652 0.1141 0.199 0.669 N 0.509 0.331 None gnomAD-2.1.1 7.13E-06 None None None None I None 8.27E-05 0 None 0 0 None 0 None 0 0 0
P/L 9140 Ig-77 29 rs371352652 0.1141 0.199 0.669 N 0.509 0.331 None gnomAD-3.1.2 1.31E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
P/L 9140 Ig-77 29 rs371352652 0.1141 0.199 0.669 N 0.509 0.331 None gnomAD-4.0.0 1.31491E-05 None None None None I None 4.82952E-05 0 None 0 0 None 0 0 0 0 0
E/A 9233 Ig-78 29 None 0.2158 None 0.939 N 0.607 0.382 0.515995215087 gnomAD-4.0.0 4.77374E-06 None None None None I None 0 0 None 0 0 None 0 0 5.71651E-06 0 3.02371E-05
P/L 9329 Ig-79 29 rs1162784959 0.2544 0.03 0.999 None 0.687 0.426 0.805423805996 gnomAD-2.1.1 4.01E-06 None None None None I None 0 0 None 0 5.56E-05 None 0 None 0 0 0
P/L 9425 Ig-80 29 rs755720364 0.4254 0.051 1.0 None 0.659 0.399 0.759093710221 gnomAD-2.1.1 8.03E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 8.87E-06 0
P/L 9425 Ig-80 29 rs755720364 0.4254 0.051 1.0 None 0.659 0.399 0.759093710221 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/L 9425 Ig-80 29 rs755720364 0.4254 0.051 1.0 None 0.659 0.399 0.759093710221 gnomAD-4.0.0 4.33788E-06 None None None None I None 0 1.66739E-05 None 0 0 None 0 0 5.0855E-06 0 0
P/R 9425 Ig-80 29 rs755720364 0.559 0.36 1.0 None 0.673 0.432 0.630366330378 gnomAD-2.1.1 8.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.77E-05 0
P/R 9425 Ig-80 29 rs755720364 0.559 0.36 1.0 None 0.673 0.432 0.630366330378 gnomAD-4.0.0 1.36832E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79885E-06 0 0
P/S 9425 Ig-80 29 None 0.428 None 0.998 None 0.626 0.408 0.395143324098 gnomAD-4.0.0 1.59102E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85785E-06 0 0
P/L 9522 Ig-81 30 None 0.5231 None 1.0 None 0.717 0.416 0.809114352529 gnomAD-4.0.0 6.8419E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99439E-07 0 0
P/R 9522 Ig-81 30 None 0.6734 None 1.0 None 0.703 0.464 0.688856029526 gnomAD-4.0.0 2.05257E-06 None None None None I None 0 0 None 0 0 None 0 0 0 3.47802E-05 0
P/S 9522 Ig-81 30 None 0.5526 None 1.0 None 0.695 0.412 0.449474494731 gnomAD-4.0.0 6.84194E-07 None None None None I None 2.98757E-05 0 None 0 0 None 0 0 0 0 0
P/T 9522 Ig-81 30 None 0.4814 None 1.0 None 0.683 0.438 0.609990207021 gnomAD-4.0.0 6.84195E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99449E-07 0 0
I/T 9726 Ig-83 29 None 0.4764 None 0.822 None 0.646 0.313 0.645427016598 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
I/V 9726 Ig-83 29 rs757364697 0.0981 -0.042 0.006 None 0.271 0.068 0.438593652726 gnomAD-2.1.1 5E-05 None None None None I None 0 3.11738E-04 None 0 0 None 0 None 0 0 4.2123E-04
I/V 9726 Ig-83 29 rs757364697 0.0981 -0.042 0.006 None 0.271 0.068 0.438593652726 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.55E-05 0 0 0 None 0 0 0 0 0
I/V 9726 Ig-83 29 rs757364697 0.0981 -0.042 0.006 None 0.271 0.068 0.438593652726 gnomAD-4.0.0 1.92384E-05 None None None None I None 0 2.20406E-04 None 0 0 None 0 0 0 0 5.69184E-05
E/G 9929 Ig-84 30 rs1340062320 0.8032 None 1.0 None 0.675 0.577 0.631684250815 gnomAD-4.0.0 5.48172E-06 None None None None I None 0 0 None 0 0 None 0 0 7.20128E-06 0 0
E/K 9929 Ig-84 30 rs1204774037 0.8902 0.403 0.999 None 0.707 0.425 0.470237251169 gnomAD-2.1.1 7.25E-06 None None None None I None 0 0 None 0 0 None 0 None 0 7.94E-06 1.42005E-04
E/K 9929 Ig-84 30 rs1204774037 0.8902 0.403 0.999 None 0.707 0.425 0.470237251169 gnomAD-3.1.2 3.29E-05 None None None None I None 0 6.55E-05 0 0 0 None 0 0 5.88E-05 0 0
E/K 9929 Ig-84 30 rs1204774037 0.8902 0.403 0.999 None 0.707 0.425 0.470237251169 gnomAD-4.0.0 2.79254E-05 None None None None I None 1.33579E-05 1.67325E-05 None 0 0 None 0 0 3.64741E-05 0 0
A/E 13715 Ig-87 32 rs2060468649 0.9937 None 1.0 D 0.823 0.385 0.45063746488 Rees (2021) None T1P comp het with R11022* None None N Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro None None None None None None None None None None None
A/T 13715 Ig-87 32 rs1192068092 0.8547 -1.27 1.0 N 0.769 0.296 0.18995819373 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
A/T 13715 Ig-87 32 rs1192068092 0.8547 -1.27 1.0 N 0.769 0.296 0.18995819373 gnomAD-4.0.0 6.36801E-06 None None None None N None 0 0 None 0 0 None 0 0 1.14386E-05 0 0
T/P 13901 Ig-89 26 None 0.7918 None 1.0 N 0.683 0.43 0.322510055762 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
T/S 13901 Ig-89 26 None 0.478 None 0.816 N 0.349 0.195 0.203808441222 gnomAD-4.0.0 1.64096E-06 None None None None N None 0 0 None 0 0 None 0 0 2.94488E-06 0 0
E/K 14080 Ig-91 27 rs1002712823 0.4753 None 0.92 N 0.501 0.345 0.435590266561 gnomAD-4.0.0 1.5922E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85999E-06 0 0
D/N 14257 Ig-93 27 rs746571349 0.1206 -0.343 1.0 N 0.723 0.426 0.43912465853 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
D/N 14257 Ig-93 27 rs746571349 0.1206 -0.343 1.0 N 0.723 0.426 0.43912465853 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
D/N 14257 Ig-93 27 rs746571349 0.1206 -0.343 1.0 N 0.723 0.426 0.43912465853 gnomAD-4.0.0 6.4092E-06 None None None None N None 8.45909E-05 0 None 0 0 None 0 0 0 0 0
D/H 14346 Ig-94 28 None 0.6083 None 0.993 D 0.832 0.382 0.208816687407 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93751E-06 0 0
D/N 14346 Ig-94 28 None 0.1882 None 0.987 N 0.785 0.307 0.146414634003 gnomAD-4.0.0 9.6026E-06 None None None None N None 0 0 None 0 0 None 0 0 1.05E-05 0 0
D/H 14702 Ig-98 28 rs727503627 0.3079 0.366 0.999 D 0.793 0.409 0.251639045875 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.3077E-04 None 0 0 0
D/H 14702 Ig-98 28 rs727503627 0.3079 0.366 0.999 D 0.793 0.409 0.251639045875 gnomAD-4.0.0 9.5535E-06 None None None None N None 0 0 None 0 0 None 0 0 0 8.59919E-05 0
D/E 14791 Ig-99 27 rs772552324 0.2779 0.106 0.946 N 0.475 0.226 0.294918367191 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
D/E 14791 Ig-99 27 rs772552324 0.2779 0.106 0.946 N 0.475 0.226 0.294918367191 gnomAD-4.0.0 6.84602E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15972E-05 0
N/S 14880 Ig-100 28 rs747496717 0.2221 0.283 0.822 N 0.551 0.201 0.236278675362 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66168E-04
N/S 14880 Ig-100 28 rs747496717 0.2221 0.283 0.822 N 0.551 0.201 0.236278675362 gnomAD-4.0.0 1.59382E-06 None None None None N None 0 0 None 0 0 None 0 2.41896E-04 0 0 0
S/N 15147 Ig-103 28 rs369604317 0.0818 0.041 None N 0.131 0.126 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
S/N 15147 Ig-103 28 rs369604317 0.0818 0.041 None N 0.131 0.126 None gnomAD-4.0.0 5.58282E-06 None None None None N None 0 0 None 0 0 None 0 0 7.63291E-06 0 0
S/R 15147 Ig-103 28 rs987487847 0.5758 None 0.055 N 0.464 0.229 0.319402600006 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
S/R 15147 Ig-103 28 rs987487847 0.5758 None 0.055 N 0.464 0.229 0.319402600006 gnomAD-4.0.0 2.03056E-06 None None None None N None 3.49871E-05 0 None 0 0 None 0 0 0 0 0
G/D 15235 Ig-104 28 rs376949328 0.4439 -0.358 1.0 N 0.733 0.544 None gnomAD-2.1.1 1.21E-05 None None None None N None 1.94175E-04 0 None 0 0 None 0 None 0 0 0
G/D 15235 Ig-104 28 rs376949328 0.4439 -0.358 1.0 N 0.733 0.544 None gnomAD-4.0.0 2.05408E-06 None None None None N None 2.99347E-05 0 None 0 0 None 0 0 1.79975E-06 0 0
N/D 15329 Ig-105 28 rs1417624685 0.1959 0.323 0.999 N 0.698 0.361 0.329282125956 gnomAD-2.1.1 4.05E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 0 0
N/D 15329 Ig-105 28 rs1417624685 0.1959 0.323 0.999 N 0.698 0.361 0.329282125956 gnomAD-4.0.0 1.5947E-06 None None None None I None 0 2.29295E-05 None 0 0 None 0 0 0 0 0
N/I 15329 Ig-105 28 None 0.6339 None 1.0 D 0.663 0.537 0.680558501852 gnomAD-4.0.0 6.84846E-07 None None None None I None 0 0 None 0 0 None 0 0 9.00045E-07 0 0
N/S 15329 Ig-105 28 rs371734564 0.1514 0.168 0.999 N 0.653 0.389 None gnomAD-2.1.1 4.05E-06 None None None None I None 6.48E-05 0 None 0 0 None 0 None 0 0 0
N/S 15329 Ig-105 28 rs371734564 0.1514 0.168 0.999 N 0.653 0.389 None gnomAD-4.0.0 4.10908E-06 None None None None I None 2.99473E-05 0 None 0 0 None 0 0 3.60018E-06 0 1.65893E-05
K/N 15507 Ig-107 28 rs781291079 0.2518 0.25 0.549 N 0.385 0.164 0.112648838833 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.93E-06 0
K/N 15507 Ig-107 28 rs781291079 0.2518 0.25 0.549 N 0.385 0.164 0.112648838833 gnomAD-4.0.0 3.42382E-06 None None None None N None 0 0 None 0 0 None 0 0 2.7002E-06 1.16012E-05 1.65865E-05
K/N 15596 Ig-108 29 rs1576521599 0.3308 None 0.801 N 0.371 0.19 0.267755039894 gnomAD-4.0.0 1.59587E-06 None None None None N None 0 0 None 4.78103E-05 0 None 0 0 0 0 0
R/K 15991 Ig-109 24 rs2057438704 0.0974 None 0.468 N 0.28 0.141 0.18995819373 gnomAD-3.1.2 6.59E-06 None None None None I None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
R/K 15991 Ig-109 24 rs2057438704 0.0974 None 0.468 N 0.28 0.141 0.18995819373 gnomAD-4.0.0 3.8489E-06 None None None None I None 0 0 None 0 0 None 0 0 0 4.02166E-05 0
E/K 16287 Ig-110 26 None 0.2337 None 0.581 N 0.556 0.218 0.424194796918 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
Y/D 17276 Ig-112 26 None 0.5275 None 0.997 N 0.718 0.582 0.714657058785 gnomAD-4.0.0 6.84695E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99905E-07 0 0
Y/H 17276 Ig-112 26 None 0.3817 None 0.998 N 0.593 0.343 0.429320821379 gnomAD-4.0.0 6.84695E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99905E-07 0 0
V/E 17701 Ig-113 25 rs1484367786 0.2 -0.375 0.025 N 0.456 0.219 0.374255764437 gnomAD-2.1.1 8.07E-06 None None None None I None 0 5.8E-05 None 0 0 None 0 None 0 0 0
V/E 17701 Ig-113 25 rs1484367786 0.2 -0.375 0.025 N 0.456 0.219 0.374255764437 gnomAD-4.0.0 4.77705E-06 None None None None I None 0 4.57352E-05 None 0 0 None 0 0 0 0 3.02718E-05
V/I 17701 Ig-113 25 rs1481397518 0.0761 None None N 0.171 0.134 0.18995819373 gnomAD-3.1.2 1.32E-05 None None None None I None 0 0 0 0 0 None 0 0 2.94E-05 0 0
V/I 17701 Ig-113 25 rs1481397518 0.0761 None None N 0.171 0.134 0.18995819373 gnomAD-4.0.0 6.19941E-06 None None None None I None 0 0 None 0 0 None 0 0 8.479E-06 0 0
M/I 17995 Ig-114 28 None 0.4999 None 0.001 N 0.108 0.153 0.364342057095 gnomAD-4.0.0 1.59456E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86331E-06 0 0
M/K 17995 Ig-114 28 rs1266231398 0.4826 0.21 0.01 N 0.193 0.319 0.462461958149 gnomAD-2.1.1 3.19E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.49E-05 0
M/K 17995 Ig-114 28 rs1266231398 0.4826 0.21 0.01 N 0.193 0.319 0.462461958149 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
M/K 17995 Ig-114 28 rs1266231398 0.4826 0.21 0.01 N 0.193 0.319 0.462461958149 gnomAD-4.0.0 6.58432E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47275E-05 0 0
M/V 17995 Ig-114 28 rs754959032 0.1414 -0.48 0.065 N 0.191 0.199 0.381580015636 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.98E-06 0
M/V 17995 Ig-114 28 rs754959032 0.1414 -0.48 0.065 N 0.191 0.199 0.381580015636 gnomAD-4.0.0 3.18919E-06 None None None None I None 0 0 None 0 5.58472E-05 None 0 0 0 0 0
T/A 18407 Ig-115 26 None 0.0606 None 0.022 N 0.122 0.132 0.206339911435 gnomAD-4.0.0 1.59329E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86218E-06 0 0
T/I 18407 Ig-115 26 None 0.073 None 0.669 N 0.317 0.183 0.341696514166 gnomAD-4.0.0 1.20032E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
P/L 19121 Ig-117 27 rs779397487 0.0808 None 0.801 N 0.459 0.349 0.565168447923 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
P/L 19121 Ig-117 27 rs779397487 0.0808 None 0.801 N 0.459 0.349 0.565168447923 gnomAD-4.0.0 6.57739E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47067E-05 0 0
F/L 19815 Ig-119 26 None 0.8685 None 0.999 N 0.614 0.395 0.568180043242 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
V/G 20107 Ig-120 28 rs1250017638 0.2224 -0.859 0.497 N 0.612 0.165 0.627816896369 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 3.3E-05 None 0 0 0
V/G 20107 Ig-120 28 rs1250017638 0.2224 -0.859 0.497 N 0.612 0.165 0.627816896369 gnomAD-4.0.0 1.59483E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43773E-05 0
F/L 20798 Ig-122 30 None 0.5287 None 0.425 N 0.226 0.236 0.101711395817 gnomAD-4.0.0 1.08029E-05 None None None None I None 0 0 None 0 0 None 0 0 1.18125E-05 0 0
A/D 21203 Ig-123 27 rs544707116 0.3462 -0.757 0.901 N 0.631 0.402 0.575814496085 gnomAD-2.1.1 8.07E-06 None None None None I None 1.294E-04 0 None 0 0 None 0 None 0 0 0
A/D 21203 Ig-123 27 rs544707116 0.3462 -0.757 0.901 N 0.631 0.402 0.575814496085 gnomAD-3.1.2 1.97E-05 None None None None I None 7.25E-05 0 0 0 0 None 0 0 0 0 0
A/D 21203 Ig-123 27 rs544707116 0.3462 -0.757 0.901 N 0.631 0.402 0.575814496085 1000 genomes 5.99042E-04 None None None None I None 2.3E-03 0 None None 0 0 None None None 0 None
A/D 21203 Ig-123 27 rs544707116 0.3462 -0.757 0.901 N 0.631 0.402 0.575814496085 gnomAD-4.0.0 1.31527E-05 None None None None I None 4.81835E-05 0 None 0 0 None 0 0 0 0 0
H/Y 21495 Ig-124 27 None 0.0742 None None N 0.109 0.067 0.107399877778 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
M/I 21892 Ig-125 27 None 0.3541 None 0.007 N 0.247 0.099 0.316494231283 gnomAD-4.0.0 6.84916E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00056E-07 0 0
M/V 21892 Ig-125 27 None 0.0845 None 0.003 N 0.157 0.145 0.305410167561 gnomAD-4.0.0 4.784E-06 None None None None N None 0 0 None 0 0 None 0 0 8.59077E-06 0 0
P/S 22290 Ig-126 26 None 0.1305 None 0.811 N 0.446 0.152 0.298056030225 gnomAD-4.0.0 1.59328E-06 None None None None I None 0 0 None 4.77236E-05 0 None 0 0 0 0 0
L/F 22976 Ig-128 27 None 0.1424 None 0.884 N 0.422 0.258 0.411401001288 gnomAD-4.0.0 1.59354E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86074E-06 0 0
A/V 23373 Ig-129 29 None 0.0803 None 0.012 N 0.183 0.143 0.327686398923 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 0
A/E 24457 Ig-132 27 None 0.2137 None 0.018 N 0.331 0.239 0.322510055762 gnomAD-4.0.0 1.59188E-06 None None None None I None 0 0 None 0 2.77624E-05 None 0 0 0 0 0
T/I 24744 Ig-133 29 rs1708319578 0.0635 None 0.029 N 0.42 0.101 0.300110245524 gnomAD-4.0.0 8.21241E-06 None None None None I None 0 0 None 0 0 None 0 0 6.2972E-06 5.79777E-05 0
T/P 24744 Ig-133 29 rs1359036046 0.0569 -0.349 None N 0.171 0.222 0.117506650769 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.77555E-04
T/P 24744 Ig-133 29 rs1359036046 0.0569 -0.349 None N 0.171 0.222 0.117506650769 gnomAD-4.0.0 1.23976E-06 None None None None I None 0 0 None 0 0 None 0 0 8.47761E-07 0 1.60179E-05
T/S 24744 Ig-133 29 rs1359036046 0.0868 -0.297 0.012 N 0.175 0.128 0.15556083564 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 5.6E-05 None 0 None 0 0 0
T/S 24744 Ig-133 29 rs1359036046 0.0868 -0.297 0.012 N 0.175 0.128 0.15556083564 gnomAD-4.0.0 6.8438E-07 None None None None I None 0 0 None 0 0 None 0 0 0 0 1.65739E-05
T/I 25539 Ig-135 26 rs746337217 0.0753 0.068 0.627 N 0.375 0.437 0.401185642668 gnomAD-2.1.1 8.07E-06 None None None None I None 0 2.91E-05 None 0 0 None 0 None 0 8.91E-06 0
T/I 25539 Ig-135 26 rs746337217 0.0753 0.068 0.627 N 0.375 0.437 0.401185642668 gnomAD-4.0.0 2.73857E-06 None None None None I None 0 2.23994E-05 None 0 0 None 0 0 1.79969E-06 0 1.65788E-05
L/R 26222 Ig-137 30 rs1470470841 0.2839 None 0.939 N 0.516 0.542 0.74021432234 gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
L/R 26222 Ig-137 30 rs1470470841 0.2839 None 0.939 N 0.516 0.542 0.74021432234 gnomAD-4.0.0 1.31524E-05 None None None None N None 4.82649E-05 0 None 0 0 None 0 0 0 0 0
T/A 26621 Ig-138 28 rs372537578 0.0572 -0.616 0.001 N 0.105 0.085 None gnomAD-2.1.1 3.92E-05 None None None None N None 3.71993E-04 5.66E-05 None 0 0 None 0 None 0 0 0
T/A 26621 Ig-138 28 rs372537578 0.0572 -0.616 0.001 N 0.105 0.085 None gnomAD-3.1.2 9.2E-05 None None None None N None 3.37773E-04 0 0 0 0 None 0 0 0 0 0
T/A 26621 Ig-138 28 rs372537578 0.0572 -0.616 0.001 N 0.105 0.085 None gnomAD-4.0.0 1.67329E-05 None None None None N None 2.93701E-04 3.33511E-05 None 0 0 None 0 0 1.69532E-06 0 1.60128E-05
T/K 26621 Ig-138 28 rs3731746 0.2095 -0.677 0.579 N 0.445 0.22 0.377799810692 gnomAD-2.1.1 4.42E-05 None None None None N None 0 2.0284E-04 None 0 0 None 0 None 0 2.66E-05 1.65453E-04
T/K 26621 Ig-138 28 rs3731746 0.2095 -0.677 0.579 N 0.445 0.22 0.377799810692 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 4.78469E-04
T/K 26621 Ig-138 28 rs3731746 0.2095 -0.677 0.579 N 0.445 0.22 0.377799810692 gnomAD-4.0.0 3.28478E-05 None None None None N None 2.66894E-05 1.00037E-04 None 0 0 None 0 0 3.56023E-05 0 4.80231E-05
T/M 26621 Ig-138 28 rs3731746 0.0707 -0.031 0.914 N 0.476 0.291 None gnomAD-2.1.1 2.33214E-01 None None None None N None 3.36793E-01 1.85994E-01 None 2.28107E-01 6.12878E-01 None 3.03412E-01 None 1.71279E-01 1.66019E-01 2.08696E-01
T/M 26621 Ig-138 28 rs3731746 0.0707 -0.031 0.914 N 0.476 0.291 None gnomAD-3.1.2 2.3958E-01 None None None None N None 3.37068E-01 1.8622E-01 4.81319E-01 2.28374E-01 6.13769E-01 None 1.81681E-01 1.83544E-01 1.66353E-01 3.06131E-01 2.22701E-01
T/M 26621 Ig-138 28 rs3731746 0.0707 -0.031 0.914 N 0.476 0.291 None 1000 genomes 3.42252E-01 None None None None N None 3.442E-01 2.061E-01 None None 6.29E-01 1.71E-01 None None None 3.17E-01 None
T/M 26621 Ig-138 28 rs3731746 0.0707 -0.031 0.914 N 0.476 0.291 None gnomAD-4.0.0 1.93829E-01 None None None None N None 3.38459E-01 1.88344E-01 None 2.277E-01 6.15472E-01 None 1.71342E-01 2.28713E-01 1.59595E-01 3.00163E-01 2.14014E-01
I/T 27304 Ig-140 27 rs753976208 0.257 -0.818 0.004 N 0.233 0.222 None gnomAD-2.1.1 2.86E-05 None None None None I None 0 0 None 0 0 None 0 None 0 6.27E-05 0
I/T 27304 Ig-140 27 rs753976208 0.257 -0.818 0.004 N 0.233 0.222 None gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 0 None 0 0 4.41E-05 0 0
I/T 27304 Ig-140 27 rs753976208 0.257 -0.818 0.004 N 0.233 0.222 None gnomAD-4.0.0 2.23133E-05 None None None None I None 0 0 None 0 0 None 0 0 2.96662E-05 0 1.60128E-05
I/V 27304 Ig-140 27 rs111362795 0.0659 None 0.002 N 0.14 0.058 0.413635276047 gnomAD-4.0.0 1.77933E-05 None None None None I None 3.28731E-04 0 None 0 0 None 0 0 8.99471E-07 0 2.31926E-04
V/I 28783 Ig-144 29 rs763600156 0.0709 -0.546 0.001 N 0.213 0.077 0.324436698001 gnomAD-2.1.1 8.24E-06 None None None None I None 0 0 None 0 1.1157E-04 None 0 None 0 0 0
V/I 28783 Ig-144 29 rs763600156 0.0709 -0.546 0.001 N 0.213 0.077 0.324436698001 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 1.92827E-04 None 0 0 0 0 0
V/I 28783 Ig-144 29 rs763600156 0.0709 -0.546 0.001 N 0.213 0.077 0.324436698001 gnomAD-4.0.0 1.24499E-06 None None None None I None 0 0 None 0 4.4607E-05 None 0 0 0 0 0
L/I 29073 Ig-145 29 None 0.0785 None 0.811 N 0.455 0.052 0.298745278005 gnomAD-4.0.0 1.20032E-06 None None None None I None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
A/P 29469 Ig-146 26 None 0.109 None 0.295 N 0.447 0.114 0.190952846119 gnomAD-4.0.0 1.59132E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85798E-06 0 0
A/T 29469 Ig-146 26 rs1482444171 0.0715 -0.532 0.055 N 0.283 0.09 0.163833314356 gnomAD-2.1.1 1.21E-05 None None None None I None 0 8.7E-05 None 0 0 None 0 None 0 0 0
A/T 29469 Ig-146 26 rs1482444171 0.0715 -0.532 0.055 N 0.283 0.09 0.163833314356 gnomAD-3.1.2 3.29E-05 None None None None I None 0 3.27482E-04 0 0 0 None 0 0 0 0 0
A/T 29469 Ig-146 26 rs1482444171 0.0715 -0.532 0.055 N 0.283 0.09 0.163833314356 gnomAD-4.0.0 1.02491E-05 None None None None I None 0 1.35584E-04 None 0 0 None 0 0 0 0 0
A/V 29469 Ig-146 26 rs397517740 0.0759 -0.178 0.064 N 0.288 0.034 0.0986583533028 gnomAD-2.1.1 8.94E-05 None None None None I None 0 1.13193E-04 None 0 6.1792E-04 None 2.61523E-04 None 0 7.83E-06 0
A/V 29469 Ig-146 26 rs397517740 0.0759 -0.178 0.064 N 0.288 0.034 0.0986583533028 gnomAD-3.1.2 1.97E-05 None None None None I None 0 6.55E-05 0 0 3.85356E-04 None 0 0 0 0 0
A/V 29469 Ig-146 26 rs397517740 0.0759 -0.178 0.064 N 0.288 0.034 0.0986583533028 gnomAD-4.0.0 5.32967E-05 None None None None I None 2.67058E-05 5.0015E-05 None 0 9.81924E-04 None 0 0 8.47583E-06 2.85482E-04 1.60118E-05
V/A 30555 Ig-149 24 rs1698774986 0.1931 None 0.822 N 0.569 0.293 0.552940642338 gnomAD-4.0.0 1.36842E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79898E-06 0 0
V/M 30555 Ig-149 24 rs771790427 0.1435 -0.301 0.942 N 0.545 0.191 0.461671691612 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
V/M 30555 Ig-149 24 rs771790427 0.1435 -0.301 0.942 N 0.545 0.191 0.461671691612 gnomAD-4.0.0 1.59126E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43279E-05 0
T/I 30954 Ig-150 28 rs72648248 0.0706 -0.279 0.009 N 0.312 0.109 0.251639045875 gnomAD-2.1.1 3.93E-05 None None None None N None 0 0 None 0 2.56437E-04 None 0 None 0 4.68E-05 0
T/I 30954 Ig-150 28 rs72648248 0.0706 -0.279 0.009 N 0.312 0.109 0.251639045875 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 1.92753E-04 None 0 0 5.88E-05 0 0
T/I 30954 Ig-150 28 rs72648248 0.0706 -0.279 0.009 N 0.312 0.109 0.251639045875 gnomAD-4.0.0 2.78922E-05 None None None None N None 0 0 None 0 2.00553E-04 None 0 0 2.96658E-05 0 1.60118E-05
T/S 30954 Ig-150 28 rs778473278 0.0998 -0.684 0.027 D 0.329 0.072 0.17948927462 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 2.78676E-04 None 0 None 0 0 0
T/S 30954 Ig-150 28 rs778473278 0.0998 -0.684 0.027 D 0.329 0.072 0.17948927462 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.92753E-04 None 0 0 0 0 0
T/S 30954 Ig-150 28 rs778473278 0.0998 -0.684 0.027 D 0.329 0.072 0.17948927462 gnomAD-4.0.0 5.57886E-06 None None None None N None 0 0 None 0 2.00544E-04 None 0 0 0 0 0
A/G 31244 Ig-151 27 None 0.138 None 0.324 N 0.391 0.252 0.359357374593 gnomAD-4.0.0 6.84191E-07 None None None None N None 0 2.23664E-05 None 0 0 None 0 0 0 0 0
A/S 31244 Ig-151 27 None 0.0839 None 0.193 D 0.427 0.037 0.215869574891 gnomAD-4.0.0 1.59115E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85789E-06 0 0
A/T 31244 Ig-151 27 rs753663596 0.0736 -0.893 0.001 N 0.219 0.044 0.18274738541 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 0
A/T 31244 Ig-151 27 rs753663596 0.0736 -0.893 0.001 N 0.219 0.044 0.18274738541 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 31244 Ig-151 27 rs753663596 0.0736 -0.893 0.001 N 0.219 0.044 0.18274738541 gnomAD-4.0.0 3.84317E-06 None None None None N None 0 0 None 0 0 None 0 0 7.1781E-06 0 0
A/V 31244 Ig-151 27 rs763825977 0.0759 -0.385 0.001 N 0.215 0.158 0.329282125956 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/V 31244 Ig-151 27 rs763825977 0.0759 -0.385 0.001 N 0.215 0.158 0.329282125956 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
A/V 31244 Ig-151 27 rs763825977 0.0759 -0.385 0.001 N 0.215 0.158 0.329282125956 gnomAD-4.0.0 1.61124E-05 None None None None N None 0 1.6675E-05 None 0 0 None 0 0 2.11896E-05 0 0
E/D 31644 Ig-152 24 rs1281349835 0.1545 -0.378 0.999 N 0.541 0.185 0.46017455471 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
E/D 31644 Ig-152 24 rs1281349835 0.1545 -0.378 0.999 N 0.541 0.185 0.46017455471 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
E/D 31644 Ig-152 24 rs1281349835 0.1545 -0.378 0.999 N 0.541 0.185 0.46017455471 gnomAD-4.0.0 1.85912E-05 None None None None I None 1.33483E-05 0 None 0 0 None 0 0 2.45813E-05 0 0
E/K 31644 Ig-152 24 rs958594083 0.2501 0.168 0.999 N 0.699 0.43 0.457286136841 gnomAD-2.1.1 1.79E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.91E-05 0
E/K 31644 Ig-152 24 rs958594083 0.2501 0.168 0.999 N 0.699 0.43 0.457286136841 gnomAD-3.1.2 3.95E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 7.35E-05 0 0
E/K 31644 Ig-152 24 rs958594083 0.2501 0.168 0.999 N 0.699 0.43 0.457286136841 gnomAD-4.0.0 2.04513E-05 None None None None I None 1.33518E-05 0 None 0 0 None 0 0 2.71243E-05 0 0
P/S 32043 Ig-153 27 None 0.0783 None None N 0.148 0.074 0.162503812791 gnomAD-4.0.0 6.84263E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99518E-07 0 0
P/L 32335 Ig-154 29 rs771804243 0.0874 None 0.035 N 0.291 0.245 0.496495002422 gnomAD-4.0.0 1.3684E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79892E-06 0 0
P/R 32335 Ig-154 29 rs771804243 0.1866 0.174 0.976 N 0.455 0.34 0.455722563999 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
P/R 32335 Ig-154 29 rs771804243 0.1866 0.174 0.976 N 0.455 0.34 0.455722563999 gnomAD-4.0.0 4.1052E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39676E-06 0 0
P/S 32335 Ig-154 29 rs779886174 0.1218 -0.228 0.852 N 0.339 0.263 0.375147631797 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 4.64E-05 0 0
P/S 32335 Ig-154 29 rs779886174 0.1218 -0.228 0.852 N 0.339 0.263 0.375147631797 gnomAD-4.0.0 3.18243E-06 None None None None N None 0 0 None 0 2.77285E-05 None 1.88274E-05 0 0 0 0
F/S 32733 Ig-155 26 None 0.1501 None None N 0.191 0.239 0.54173910141 gnomAD-4.0.0 2.40065E-06 None None None None I None 0 0 None 0 0 None 0 0 2.62501E-06 0 0
V/I 33225 Ig-157 23 None 0.0814 None None N 0.175 0.097 0.363356657567 gnomAD-4.0.0 1.36851E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31884E-05 0
E/D 34286 Ig-161 29 None 0.2112 None 0.117 N 0.237 0.056 0.220303561663 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
E/K 34286 Ig-161 29 rs1211102560 0.2501 None 0.977 N 0.664 0.441 0.321951552304 gnomAD-4.0.0 1.59097E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85768E-06 0 0
E/Q 34286 Ig-161 29 None 0.2434 None 0.997 N 0.644 0.296 0.377274123778 gnomAD-4.0.0 1.59097E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85768E-06 0 0
E/V 34286 Ig-161 29 None 0.3354 None 0.997 D 0.715 0.65 0.567643136482 gnomAD-4.0.0 1.59095E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85767E-06 0 0
P/L 34391 Ig-162 29 rs775343253 0.1284 -0.398 0.012 N 0.437 0.148 0.30212335484 gnomAD-2.1.1 7.14E-06 None None None None I None 4.14E-05 0 None 0 0 None 0 None 0 7.81E-06 0
P/L 34391 Ig-162 29 rs775343253 0.1284 -0.398 0.012 N 0.437 0.148 0.30212335484 gnomAD-3.1.2 1.31E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
P/L 34391 Ig-162 29 rs775343253 0.1284 -0.398 0.012 N 0.437 0.148 0.30212335484 gnomAD-4.0.0 2.04512E-05 None None None None I None 1.33511E-05 0 None 0 0 None 1.56465E-05 0 2.62755E-05 0 0
P/Q 34391 Ig-162 29 None 0.1699 -0.608 0.055 N 0.457 0.105 0.152612264143 gnomAD-2.1.1 4.02E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
P/Q 34391 Ig-162 29 None 0.1699 -0.608 0.055 N 0.457 0.105 0.152612264143 gnomAD-4.0.0 1.36848E-06 None None None None I None 0 4.47227E-05 None 0 0 None 0 0 0 0 0
P/R 34391 Ig-162 29 rs775343253 0.2216 -0.062 None N 0.217 0.169 0.171388866994 gnomAD-2.1.1 8.05E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 8.88E-06 0
P/R 34391 Ig-162 29 rs775343253 0.2216 -0.062 None N 0.217 0.169 0.171388866994 gnomAD-4.0.0 2.73696E-06 None None None None I None 0 2.23614E-05 None 0 0 None 0 0 2.69834E-06 0 0
P/S 34391 Ig-162 29 None 0.1442 None None N 0.155 0.087 0.117506650769 gnomAD-4.0.0 6.36503E-06 None None None None I None 0 0 None 0 0 None 0 0 8.57407E-06 0 3.02407E-05
T/A 34970 Ig-163 29 None 0.0774 None 0.061 N 0.131 0.119 0.16115917748 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 34970 Ig-163 29 None 0.2333 None 0.988 N 0.457 0.302 0.478376075226 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/S 34970 Ig-163 29 None 0.127 None 0.704 N 0.431 0.132 0.207176502487 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 35314 Ig-165 29 rs377171054 0.1168 -0.577 0.183 N 0.217 0.059 None gnomAD-2.1.1 8.2E-05 None None None None I None 0 2.26283E-04 None 0 0 None 0 None 0 1.16924E-04 0
A/T 35314 Ig-165 29 rs377171054 0.1168 -0.577 0.183 N 0.217 0.059 None gnomAD-3.1.2 1.05158E-04 None None None None I None 7.24E-05 6.55E-05 0 0 0 None 9.43E-05 0 1.61693E-04 0 0
A/T 35314 Ig-165 29 rs377171054 0.1168 -0.577 0.183 N 0.217 0.059 None gnomAD-4.0.0 9.29458E-05 None None None None I None 4.00513E-05 1.33342E-04 None 0 0 None 1.5623E-05 1.64366E-04 1.11027E-04 0 9.60584E-05
R/Q 35448 Ig-166 29 rs369703073 0.0571 -0.168 None N 0.059 0.097 0.0482279557977 gnomAD-2.1.1 2.16E-05 None None None None N None 0 0 None 0 1.02881E-04 None 0 None 0 3.13E-05 0
R/Q 35448 Ig-166 29 rs369703073 0.0571 -0.168 None N 0.059 0.097 0.0482279557977 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
R/Q 35448 Ig-166 29 rs369703073 0.0571 -0.168 None N 0.059 0.097 0.0482279557977 gnomAD-4.0.0 1.74241E-05 None None None None N None 2.67587E-05 0 None 0 4.46548E-05 None 1.56465E-05 0 1.78646E-05 0 3.21533E-05
R/W 35448 Ig-166 29 rs530453291 0.0705 -0.442 None N 0.252 0.147 None gnomAD-2.1.1 4.31E-05 None None None None N None 0 0 None 0 3.60082E-04 None 0 None 0 3.13E-05 1.41323E-04
R/W 35448 Ig-166 29 rs530453291 0.0705 -0.442 None N 0.252 0.147 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 7.69823E-04 None 0 0 0 0 0
R/W 35448 Ig-166 29 rs530453291 0.0705 -0.442 None N 0.252 0.147 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
R/W 35448 Ig-166 29 rs530453291 0.0705 -0.442 None N 0.252 0.147 None gnomAD-4.0.0 1.36869E-05 None None None None N None 0 0 None 0 2.67929E-04 None 0 0 5.95399E-06 3.33126E-05 0
T/A 35925 Ig-169 29 rs781497669 0.0674 -0.691 None N 0.125 0.078 0.126345400529 gnomAD-2.1.1 2.41E-05 None None None 0.418(OBSL1) -0.173(OBSCN) N None 0 0 None 0 0 None 0 None 0 4.43E-05 1.65618E-04
T/A 35925 Ig-169 29 rs781497669 0.0674 -0.691 None N 0.125 0.078 0.126345400529 gnomAD-4.0.0 1.64201E-05 None None None 0.418(OBSL1) -0.173(OBSCN) N None 0 0 None 0 0 None 0 0 2.06865E-05 0 1.65645E-05
T/I 35925 Ig-169 29 rs755111765 0.0869 -0.07 None N 0.197 0.187 0.280181792013 gnomAD-2.1.1 1.21E-05 None None None 0.224(OBSL1) -0.099(OBSCN) N None 0 0 None 0 1.6715E-04 None 0 None 0 0 0
T/I 35925 Ig-169 29 rs755111765 0.0869 -0.07 None N 0.197 0.187 0.280181792013 gnomAD-4.0.0 4.77315E-06 None None None 0.224(OBSL1) -0.099(OBSCN) N None 0 0 None 0 8.31901E-05 None 0 0 0 0 0
T/S 35925 Ig-169 29 None 0.1184 None 0.042 N 0.28 0.042 0.137902524267 gnomAD-4.0.0 1.59105E-06 None None None -0.255(OBSL1) -0.352(OBSCN) N None 0 0 None 0 0 None 0 0 0 0 3.02371E-05

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.