Structural position:

  • Domain Type: Ig
  • Aligned Position: 158
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand F

SAVs

SAV Position (IC) Domain Position (Domain) RS
AlphaMissense (IC)
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
A/D 82 Ig-1 77 None 0.9967 None 1.0 D 0.898 0.783 0.901813502436 Rees (2021) None CFTD comp het with R34807Sfs*7 (in trans) None -1.93(TCAP) N Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded; Tm 37 degrees lower than WT None None None None None None None None None None None
A/T 82 Ig-1 77 rs1575010544 0.8169 None 1.0 D 0.789 0.784 0.653846678015 gnomAD-3.1.2 6.57E-06 None None None -1.555(TCAP) N None 0 0 0 0 1.92678E-04 None 0 0 0 0 0
A/T 82 Ig-1 77 rs1575010544 0.8169 None 1.0 D 0.789 0.784 0.653846678015 gnomAD-4.0.0 3.09756E-06 None None None -1.555(TCAP) N None 0 0 None 0 6.68479E-05 None 0 0 0 1.09791E-05 1.59995E-05
A/D 178 Ig-2 75 None 0.9987 -3.04 0.993 D 0.571 0.833 0.844504697091 Hastings (2016) Jiang (2021) None DCM LVNC het None -1.921(TCAP) N Linkage analysis in single 3-generation DCM family, co-segregates with condition (n = 8, 8 affected (14 total)); features of LVNC; domain destabilisation and impaired TCAP binding in vitro; knock-in mice mutant show phenotype under challenge conditions None None None None None None None None None None None
A/S 178 Ig-2 75 None 0.6512 None 0.999 D 0.585 0.582 0.585593966701 gnomAD-4.0.0 1.59045E-06 None None None -1.174(TCAP) N None 0 2.28624E-05 None 0 0 None 0 0 0 0 0
A/V 178 Ig-2 75 rs1304644881 0.6135 None 1.0 D 0.691 0.591 0.704534750623 gnomAD-3.1.2 6.57E-06 None None None -1.295(TCAP) N None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
A/V 178 Ig-2 75 rs1304644881 0.6135 None 1.0 D 0.691 0.591 0.704534750623 gnomAD-4.0.0 8.05436E-06 None None None -1.295(TCAP) N None 0 0 None 1.01338E-04 0 None 0 1.64366E-04 5.08467E-06 2.19587E-05 1.60036E-05
V/L 1158 Ig-4 77 rs1210691633 0.3438 -0.982 0.004 N 0.498 0.221 0.29527378943 gnomAD-2.1.1 3.98E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
V/L 1158 Ig-4 77 rs1210691633 0.3438 -0.982 0.004 N 0.498 0.221 0.29527378943 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
V/L 1158 Ig-4 77 rs1210691633 0.3438 -0.982 0.004 N 0.498 0.221 0.29527378943 gnomAD-4.0.0 8.96523E-06 None None None None N None 5.0734E-05 0 None 0 0 None 0 0 0 0 1.13688E-04
A/T 1366 Ig-5 76 rs2092516827 0.7252 None 1.0 D 0.783 0.65 0.644729278666 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 1366 Ig-5 76 rs2092516827 0.7252 None 1.0 D 0.783 0.65 0.644729278666 gnomAD-4.0.0 6.57272E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47007E-05 0 0
A/T 1532 Ig-6 76 None 0.8765 None 1.0 D 0.784 0.703 0.684433362957 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 1632 Ig-7 77 rs1250136125 0.9032 None 1.0 D 0.755 0.719 0.672020861447 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 1632 Ig-7 77 rs1250136125 0.9032 None 1.0 D 0.755 0.719 0.672020861447 gnomAD-4.0.0 2.56162E-06 None None None None N None 0 0 None 0 0 None 0 0 4.78377E-06 0 0
A/V 1779 Ig-8 77 rs1335516732 0.7947 -0.358 1.0 D 0.65 0.655 0.662550749481 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
A/V 1779 Ig-8 77 rs1335516732 0.7947 -0.358 1.0 D 0.65 0.655 0.662550749481 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 1914 Ig-9 74 rs118161093 0.7503 -1.843 1.0 D 0.745 0.692 None gnomAD-2.1.1 1.38036E-04 None None None None N None 0 2.82E-05 None 0 1.80542E-03 None 0 None 0 1.55E-05 0
A/T 1914 Ig-9 74 rs118161093 0.7503 -1.843 1.0 D 0.745 0.692 None gnomAD-3.1.2 7.23E-05 None None None None N None 2.41E-05 0 0 0 1.73143E-03 None 0 0 1.47E-05 0 0
A/T 1914 Ig-9 74 rs118161093 0.7503 -1.843 1.0 D 0.745 0.692 None 1000 genomes 3.99361E-04 None None None None N None 0 0 None None 2E-03 0 None None None 0 None
A/T 1914 Ig-9 74 rs118161093 0.7503 -1.843 1.0 D 0.745 0.692 None gnomAD-4.0.0 5.01811E-05 None None None None N None 1.33241E-05 1.66617E-05 None 0 1.53736E-03 None 0 0 8.47458E-06 0 0
A/V 1914 Ig-9 74 rs374203813 0.6355 -0.218 1.0 D 0.629 0.605 None gnomAD-2.1.1 3.58E-05 None None None None N None 0 2.89E-05 None 0 5.44E-05 None 9.8E-05 None 0 1.76E-05 3.26477E-04
A/V 1914 Ig-9 74 rs374203813 0.6355 -0.218 1.0 D 0.629 0.605 None gnomAD-3.1.2 3.29E-05 None None None None N None 2.41E-05 0 0 0 1.9253E-04 None 0 0 4.41E-05 0 0
A/V 1914 Ig-9 74 rs374203813 0.6355 -0.218 1.0 D 0.629 0.605 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
A/V 1914 Ig-9 74 rs374203813 0.6355 -0.218 1.0 D 0.629 0.605 None gnomAD-4.0.0 2.29239E-05 None None None None N None 1.3333E-05 1.66661E-05 None 0 4.45653E-05 None 0 0 1.86442E-05 8.78368E-05 4.79969E-05
A/P 2153 Ig-10 76 rs747598396 0.9961 -0.993 1.0 D 0.874 0.866 0.810821675883 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 0
A/P 2153 Ig-10 76 rs747598396 0.9961 -0.993 1.0 D 0.874 0.866 0.810821675883 gnomAD-4.0.0 1.59068E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85654E-06 0 0
A/T 2153 Ig-10 76 rs747598396 0.712 -1.924 1.0 D 0.767 0.781 0.763539920403 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 0
I/L 2429 Ig-13 74 None 0.1525 None 0.437 N 0.446 0.15 0.490352026379 gnomAD-4.0.0 1.59059E-06 None None None None N None 0 0 None 0 2.77377E-05 None 0 0 0 0 0
I/S 2429 Ig-13 74 None 0.8093 None 0.984 N 0.819 0.548 0.800198508981 gnomAD-4.0.0 1.59059E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85665E-06 0 0
I/T 2429 Ig-13 74 rs148266341 0.8478 None 0.896 N 0.713 0.392 None gnomAD-4.0.0 1.59059E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85665E-06 0 0
V/A 2519 Ig-14 75 rs372361514 0.2498 -1.515 0.939 N 0.635 0.345 None gnomAD-2.1.1 2.79E-05 None None None None N None 0 0 None 0 2.72569E-04 None 0 None 0 1.76E-05 0
V/A 2519 Ig-14 75 rs372361514 0.2498 -1.515 0.939 N 0.635 0.345 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 3.84763E-04 None 0 0 0 0 0
V/A 2519 Ig-14 75 rs372361514 0.2498 -1.515 0.939 N 0.635 0.345 None gnomAD-4.0.0 6.19608E-06 None None None None N None 0 0 None 0 1.55999E-04 None 0 0 2.54248E-06 0 0
V/G 2519 Ig-14 75 rs372361514 0.6431 None 0.997 D 0.846 0.881 0.939559954431 gnomAD-4.0.0 6.84115E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99326E-07 0 0
V/I 2519 Ig-14 75 rs1435317877 0.0909 -0.365 0.046 D 0.236 0.279 0.468834750356 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-06 0
A/G 2606 Ig-15 74 None 0.3633 None 0.999 D 0.612 0.799 0.626812710122 gnomAD-4.0.0 6.8419E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15972E-05 0
A/T 2606 Ig-15 74 rs375286376 0.3749 -1.061 1.0 D 0.745 0.645 None gnomAD-2.1.1 3.55E-05 None None None None N None 0 0 None 0 0 None 6.54E-05 None 3.99E-05 5.44E-05 0
A/T 2606 Ig-15 74 rs375286376 0.3749 -1.061 1.0 D 0.745 0.645 None gnomAD-3.1.2 4.6E-05 None None None None N None 2.41E-05 6.55E-05 0 0 0 None 0 0 4.41E-05 2.07039E-04 4.78469E-04
A/T 2606 Ig-15 74 rs375286376 0.3749 -1.061 1.0 D 0.745 0.645 None gnomAD-4.0.0 6.87847E-05 None None None None N None 2.6703E-05 1.66789E-05 None 0 0 None 4.68794E-05 0 8.39034E-05 4.39261E-05 3.20164E-05
A/V 2606 Ig-15 74 rs370857722 0.4054 0.501 0.999 D 0.601 0.603 None gnomAD-2.1.1 6.74E-05 None None None None N None 4.02E-05 0 None 5.79262E-04 0 None 6.54E-05 None 0 7E-05 1.39315E-04
A/V 2606 Ig-15 74 rs370857722 0.4054 0.501 0.999 D 0.601 0.603 None gnomAD-3.1.2 7.23E-05 None None None None N None 0 0 0 0 1.92678E-04 None 0 3.16456E-03 1.02935E-04 2.07814E-04 4.78469E-04
A/V 2606 Ig-15 74 rs370857722 0.4054 0.501 0.999 D 0.601 0.603 None gnomAD-4.0.0 6.75444E-05 None None None None N None 1.33355E-05 0 None 2.70289E-04 2.23125E-05 None 0 6.60066E-04 6.94981E-05 6.5908E-05 1.12018E-04
V/A 2693 Ig-16 73 rs780868304 0.4675 -1.938 0.977 N 0.612 0.372 0.572657343838 gnomAD-2.1.1 7.96E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.76E-05 0
V/A 2693 Ig-16 73 rs780868304 0.4675 -1.938 0.977 N 0.612 0.372 0.572657343838 gnomAD-4.0.0 1.505E-05 None None None None N None 0 0 None 0 0 None 0 0 1.88854E-05 0 1.65579E-05
V/M 2693 Ig-16 73 rs1349732520 0.4421 -0.584 0.993 D 0.81 0.525 0.674745919162 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
V/M 2693 Ig-16 73 rs1349732520 0.4421 -0.584 0.993 D 0.81 0.525 0.674745919162 gnomAD-4.0.0 1.59064E-06 None None None None N None 0 0 None 0 2.775E-05 None 0 0 0 0 0
L/F 2781 Ig-17 75 rs759448192 0.3299 -1.159 1.0 D 0.693 0.609 0.79381265037 gnomAD-2.1.1 4.78E-05 None None None None N None 0 0 None 0 0 None 3.59289E-04 None 0 8.83E-06 0
L/F 2781 Ig-17 75 rs759448192 0.3299 -1.159 1.0 D 0.693 0.609 0.79381265037 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 0 6.21375E-04 0
L/F 2781 Ig-17 75 rs759448192 0.3299 -1.159 1.0 D 0.693 0.609 0.79381265037 gnomAD-4.0.0 3.15985E-05 None None None None N None 0 0 None 0 0 None 0 1.64366E-04 2.54231E-06 5.05017E-04 1.60041E-05
V/A 2868 Ig-18 74 rs765207321 0.3428 -2.208 0.543 N 0.321 0.342 0.552245614029 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
V/A 2868 Ig-18 74 rs765207321 0.3428 -2.208 0.543 N 0.321 0.342 0.552245614029 gnomAD-4.0.0 3.18094E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85644E-06 1.43271E-05 0
C/Y 2955 Ig-19 74 None 0.9814 None 1.0 N 0.867 0.538 0.790359125591 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
A/D 3042 Ig-20 74 None 0.9953 None 1.0 D 0.876 0.823 0.878151891063 gnomAD-4.0.0 6.84096E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
A/S 3042 Ig-20 74 rs756542210 0.4907 -1.54 1.0 D 0.573 0.637 0.558302604704 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 1.96027E-04 None 0 1.76E-05 0
A/S 3042 Ig-20 74 rs756542210 0.4907 -1.54 1.0 D 0.573 0.637 0.558302604704 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 3.16456E-03 0 0 0
A/S 3042 Ig-20 74 rs756542210 0.4907 -1.54 1.0 D 0.573 0.637 0.558302604704 gnomAD-4.0.0 1.2391E-05 None None None None N None 0 0 None 0 0 None 0 3.30033E-04 3.38979E-06 1.53711E-04 0
A/T 3042 Ig-20 74 None 0.7278 None 1.0 D 0.747 0.665 0.586357277508 gnomAD-4.0.0 1.36819E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79859E-06 0 0
A/V 3042 Ig-20 74 None 0.6857 None 1.0 D 0.623 0.564 0.690083970411 gnomAD-4.0.0 6.84096E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99295E-07 0 0
A/G 3131 Ig-21 74 None 0.6202 None 1.0 D 0.567 0.578 0.617871938043 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 3131 Ig-21 74 None 0.5767 None 1.0 D 0.623 0.55 0.652441387294 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
A/S 3222 Ig-22 76 rs1157020180 0.5041 None 1.0 D 0.572 0.682 0.557637382247 gnomAD-4.0.0 6.84101E-07 None None None None N None 2.98704E-05 0 None 0 0 None 0 0 0 0 0
A/T 3222 Ig-22 76 None 0.7718 None 1.0 D 0.725 0.714 0.587508425673 gnomAD-4.0.0 1.3682E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79869E-06 0 0
A/P 3541 Ig-25 77 rs762211144 0.9924 -0.854 None None None 0.451 None gnomAD-4.0.0 1.6053E-05 None None None None N None 0 0 None 0 0 None 1.89251E-04 0 0 0 0
V/A 3734 Ig-26 75 rs1488086911 0.2265 None None None None 0.125 None gnomAD-4.0.0 1.59129E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02389E-05
A/T 4013 Ig-28 76 rs397517828 0.6146 None 0.997 D 0.787 0.546 None gnomAD-4.0.0 1.5925E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
A/D 4679 Ig-29 74 None 0.9587 None 1.0 D 0.869 0.809 None gnomAD-4.0.0 9.40304E-06 None None None None N None 0 0 None 0 0 None 0 0 1.21217E-05 0 0
A/G 4679 Ig-29 74 rs2082047521 0.2025 None 1.0 D 0.557 0.773 None gnomAD-4.0.0 7.23311E-07 None None None None N None 3.22103E-05 0 None 0 0 None 0 0 0 0 0
A/P 4774 Ig-30 75 None 0.9847 None 0.996 N 0.857 0.67 0.525561869914 gnomAD-4.0.0 2.05267E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79897E-06 0 1.65662E-05
A/S 4774 Ig-30 75 rs1404878972 0.5181 -1.669 0.928 N 0.589 0.502 0.396645960531 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
A/S 4774 Ig-30 75 rs1404878972 0.5181 -1.669 0.928 N 0.589 0.502 0.396645960531 gnomAD-4.0.0 5.4738E-06 None None None None N None 2.98739E-05 0 None 0 0 None 0 0 5.39691E-06 1.15937E-05 0
A/T 4774 Ig-30 75 rs1404878972 0.604 None 0.928 N 0.652 0.538 0.403896168776 gnomAD-4.0.0 3.42112E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49742E-06 0 0
A/V 4774 Ig-30 75 rs879085292 0.279 None 0.085 N 0.407 0.232 None gnomAD-4.0.0 4.10535E-06 None None None None N None 0 0 None 0 0 None 0 0 5.3969E-06 0 0
A/P 4869 Ig-31 75 rs768296194 0.9876 -0.86 1.0 D 0.882 0.769 0.659973416392 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/P 4869 Ig-31 75 rs768296194 0.9876 -0.86 1.0 D 0.882 0.769 0.659973416392 gnomAD-4.0.0 2.05268E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69839E-06 0 0
A/S 4869 Ig-31 75 rs768296194 0.4017 None 0.998 D 0.616 0.681 0.558264529485 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
A/S 4869 Ig-31 75 rs768296194 0.4017 None 0.998 D 0.616 0.681 0.558264529485 gnomAD-4.0.0 1.85913E-06 None None None None N None 1.33479E-05 1.66711E-05 None 0 0 None 0 0 8.47597E-07 0 0
A/S 4962 Ig-32 75 rs957102154 0.258 -1.794 0.698 D 0.642 0.603 0.498001352042 gnomAD-2.1.1 2.04E-05 None None None None N None 0 1.18071E-04 None 0 0 None 0 None 0 8.99E-06 0
A/S 4962 Ig-32 75 rs957102154 0.258 -1.794 0.698 D 0.642 0.603 0.498001352042 gnomAD-4.0.0 5.49119E-06 None None None None N None 0 1.13859E-04 None 0 0 None 0 0 1.80105E-06 0 1.66328E-05
A/T 4962 Ig-32 75 None 0.2287 None 0.032 D 0.379 0.612 0.467752868181 gnomAD-4.0.0 6.86399E-07 None None None None N None 0 0 None 0 0 None 1.87857E-05 0 0 0 0
A/V 4962 Ig-32 75 None 0.141 None 0.014 D 0.343 0.439 0.458734620958 gnomAD-4.0.0 2.05935E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70163E-06 0 0
A/S 5056 Ig-33 76 rs763353350 0.5294 None 0.946 D 0.663 0.583 0.498259528926 gnomAD-4.0.0 2.73751E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59859E-06 0 0
A/T 5056 Ig-33 76 rs763353350 0.5973 -1.532 0.896 D 0.662 0.604 0.524843318063 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
A/T 5056 Ig-33 76 rs763353350 0.5973 -1.532 0.896 D 0.662 0.604 0.524843318063 gnomAD-4.0.0 6.84377E-07 None None None None N None 0 0 None 0 2.52029E-05 None 0 0 0 0 0
V/A 5149 Ig-34 75 rs1367341896 0.2444 None 0.517 N 0.655 0.29 0.392395365052 gnomAD-4.0.0 1.59697E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43897E-05 0
V/F 5149 Ig-34 75 rs1367681610 0.7323 None 0.901 D 0.821 0.584 0.786193331273 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
V/F 5149 Ig-34 75 rs1367681610 0.7323 None 0.901 D 0.821 0.584 0.786193331273 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
V/F 5149 Ig-34 75 rs1367681610 0.7323 None 0.901 D 0.821 0.584 0.786193331273 gnomAD-4.0.0 1.61351E-05 None None None None N None 2.67187E-05 0 None 0 0 None 0 0 1.95182E-05 0 1.60339E-05
V/I 5149 Ig-34 75 rs1367681610 0.1038 None 0.003 D 0.224 0.147 0.338592109245 gnomAD-4.0.0 6.853E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00619E-07 0 0
A/T 5242 Ig-35 75 rs763604864 0.5221 -1.818 0.996 D 0.696 0.8 0.611371111137 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/T 5242 Ig-35 75 rs763604864 0.5221 -1.818 0.996 D 0.696 0.8 0.611371111137 gnomAD-4.0.0 1.59333E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43365E-05 0
A/D 5431 Ig-37 75 rs1045107649 0.9961 None 1.0 D 0.873 0.839 0.877414411994 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/D 5431 Ig-37 75 rs1045107649 0.9961 None 1.0 D 0.873 0.839 0.877414411994 gnomAD-4.0.0 4.33906E-06 None None None None N None 0 0 None 0 0 None 0 0 5.93399E-06 0 0
A/P 5431 Ig-37 75 rs757710470 0.9918 -0.736 1.0 D 0.881 0.61 0.706577926717 gnomAD-2.1.1 2.02E-05 None None None None N None 0 0 None 0 0 None 1.63827E-04 None 0 0 0
A/P 5431 Ig-37 75 rs757710470 0.9918 -0.736 1.0 D 0.881 0.61 0.706577926717 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07039E-04 0
A/P 5431 Ig-37 75 rs757710470 0.9918 -0.736 1.0 D 0.881 0.61 0.706577926717 gnomAD-4.0.0 1.4257E-05 None None None None N None 0 0 None 0 2.23384E-05 None 0 0 0 2.4171E-04 0
A/T 5431 Ig-37 75 None 0.6212 -1.905 0.992 D 0.69 0.57 0.61513531927 gnomAD-2.1.1 2.02E-05 None None None None N None 0 0 None 0 0 None 1.63827E-04 None 0 0 0
A/T 5431 Ig-37 75 None 0.6212 -1.905 0.992 D 0.69 0.57 0.61513531927 gnomAD-4.0.0 6.1598E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.04423E-04 0
V/I 5524 Ig-38 75 None 0.1051 None 0.004 N 0.272 0.134 0.41921206133 gnomAD-4.0.0 1.59197E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85914E-06 0 0
A/V 5618 Ig-39 76 rs774980198 0.2442 -0.332 1.0 N 0.649 0.521 0.615473259424 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 2.22767E-04 None 0 None 0 0 0
A/V 5618 Ig-39 76 rs774980198 0.2442 -0.332 1.0 N 0.649 0.521 0.615473259424 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92901E-04 None 0 0 0 0 0
A/V 5618 Ig-39 76 rs774980198 0.2442 -0.332 1.0 N 0.649 0.521 0.615473259424 gnomAD-4.0.0 6.19878E-06 None None None None N None 0 0 None 0 2.22846E-04 None 0 0 0 0 0
V/L 5711 Ig-40 75 None 0.586 None 0.76 D 0.625 0.376 0.446715556694 gnomAD-4.0.0 6.84258E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99509E-07 0 0
A/S 5804 Ig-41 75 rs773397477 0.5273 -2.109 0.999 D 0.577 0.581 0.600586691565 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
A/S 5804 Ig-41 75 rs773397477 0.5273 -2.109 0.999 D 0.577 0.581 0.600586691565 gnomAD-4.0.0 1.59128E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85837E-06 0 0
A/T 5804 Ig-41 75 None 0.5936 None 0.999 D 0.701 0.63 0.635264866943 gnomAD-4.0.0 1.59128E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85837E-06 0 0
V/L 5897 Ig-42 75 rs2080377213 0.7054 None 0.997 N 0.626 0.469 0.622146358133 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07555E-04 0
V/L 5897 Ig-42 75 rs2080377213 0.7054 None 0.997 N 0.626 0.469 0.622146358133 gnomAD-4.0.0 6.57938E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07555E-04 0
L/I 6086 Ig-44 75 rs1160746683 0.0723 -1.161 0.002 N 0.284 0.126 0.226586394389 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
L/I 6086 Ig-44 75 rs1160746683 0.0723 -1.161 0.002 N 0.284 0.126 0.226586394389 gnomAD-4.0.0 3.18523E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86022E-06 1.43394E-05 0
L/V 6086 Ig-44 75 None 0.0858 None 0.022 N 0.292 0.189 0.18274738541 gnomAD-4.0.0 1.59262E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86022E-06 0 0
A/P 6180 Ig-45 76 None 0.9857 None 1.0 D 0.886 0.587 0.73903095977 gnomAD-4.0.0 1.36847E-06 None None None None N None 5.97729E-05 0 None 0 0 None 0 0 0 0 0
A/S 6180 Ig-45 76 None 0.4518 None 1.0 D 0.582 0.544 0.629616166261 gnomAD-4.0.0 4.10542E-06 None None None None N None 2.98864E-05 0 None 0 0 None 0 0 4.49756E-06 0 0
V/L 6273 Ig-46 75 None 0.2493 None 0.004 N 0.481 0.201 0.180583059064 gnomAD-4.0.0 4.79096E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29809E-06 0 0
A/D 6366 Ig-47 75 None 0.9952 None 1.0 D 0.87 0.727 0.740168519677 gnomAD-4.0.0 6.85068E-07 None None None None N None 0 0 None 0 0 None 1.88366E-05 0 0 0 0
A/G 6366 Ig-47 75 None 0.3625 None 0.999 D 0.623 0.631 0.57723927602 gnomAD-4.0.0 6.85068E-07 None None None None N None 0 0 None 0 0 None 0 0 9.00155E-07 0 0
V/L 6459 Ig-48 75 None 0.7293 None 0.997 N 0.628 0.56 0.697899727133 gnomAD-4.0.0 6.84594E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65782E-05
V/M 6459 Ig-48 75 rs759353216 0.7424 -1.201 1.0 D 0.825 0.608 0.72350983837 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.56E-05 0
V/M 6459 Ig-48 75 rs759353216 0.7424 -1.201 1.0 D 0.825 0.608 0.72350983837 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/M 6459 Ig-48 75 rs759353216 0.7424 -1.201 1.0 D 0.825 0.608 0.72350983837 gnomAD-4.0.0 5.58018E-06 None None None None N None 0 0 None 0 0 None 0 0 7.63086E-06 0 0
V/L 6555 Ig-49 75 rs753901455 0.44 None 0.015 D 0.282 0.319 0.4897983601 gnomAD-4.0.0 2.33303E-05 None None None None N None 0 0 None 0 0 None 0 0 3.0647E-05 0 0
V/M 6555 Ig-49 75 rs753901455 0.5158 -1.422 0.976 N 0.717 0.458 0.676562671139 gnomAD-2.1.1 2.04E-05 None None None None N None 0 0 None 0 0 None 1.67414E-04 None 0 0 0
V/M 6555 Ig-49 75 rs753901455 0.5158 -1.422 0.976 N 0.717 0.458 0.676562671139 gnomAD-4.0.0 1.30375E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.22009E-04 0
V/A 6648 Ig-50 75 None 0.3711 None 0.939 N 0.612 0.309 0.53974568202 gnomAD-4.0.0 6.90254E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.67051E-05
V/G 6648 Ig-50 75 rs752299031 0.6976 -3.252 0.997 N 0.843 0.723 0.928001726772 gnomAD-2.1.1 8.41E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.83E-05 0
V/G 6648 Ig-50 75 rs752299031 0.6976 -3.252 0.997 N 0.843 0.723 0.928001726772 gnomAD-4.0.0 1.38051E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80831E-06 0 0
A/S 6742 Ig-51 76 rs2079479232 0.5073 None 0.997 D 0.62 0.592 0.538974603628 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
A/S 6742 Ig-51 76 rs2079479232 0.5073 None 0.997 D 0.62 0.592 0.538974603628 gnomAD-4.0.0 2.59887E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.75528E-05 0
A/V 6742 Ig-51 76 rs545490977 0.3638 -0.373 0.978 N 0.619 0.469 0.557913522927 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93199E-04 None 0 0 0 0 0
A/V 6742 Ig-51 76 rs545490977 0.3638 -0.373 0.978 N 0.619 0.469 0.557913522927 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
A/T 7118 Ig-55 75 rs2078883928 0.6267 None 1.0 D 0.788 0.579 0.680623934228 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 7118 Ig-55 75 rs2078883928 0.6267 None 1.0 D 0.788 0.579 0.680623934228 gnomAD-4.0.0 6.57168E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4702E-05 0 0
V/I 7211 Ig-56 75 None 0.104 None 0.37 D 0.242 0.26 0.546393912413 gnomAD-4.0.0 1.59255E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85997E-06 0 0
I/T 7304 Ig-57 75 rs766599708 0.4597 -2.815 0.324 N 0.739 0.27 0.598985906569 gnomAD-2.1.1 1.21E-05 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 1.78E-05 0
I/T 7304 Ig-57 75 rs766599708 0.4597 -2.815 0.324 N 0.739 0.27 0.598985906569 gnomAD-4.0.0 4.10583E-06 None None None None N None 0 2.23664E-05 None 0 0 None 0 0 4.49779E-06 0 0
A/T 7397 Ig-58 75 rs1444697526 0.6297 -1.808 1.0 D 0.644 0.555 0.525922550829 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
A/T 7397 Ig-58 75 rs1444697526 0.6297 -1.808 1.0 D 0.644 0.555 0.525922550829 gnomAD-4.0.0 1.59296E-06 None None None None N None 0 2.28969E-05 None 0 0 None 0 0 0 0 0
A/V 7589 Ig-60 75 None 0.3032 None 0.976 N 0.349 0.407 0.584736501517 gnomAD-4.0.0 1.5928E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86103E-06 0 0
A/P 7683 Ig-61 76 rs2078270258 0.9925 None 1.0 D 0.879 0.65 0.790187556284 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
A/P 7683 Ig-61 76 rs2078270258 0.9925 None 1.0 D 0.879 0.65 0.790187556284 gnomAD-4.0.0 6.57142E-06 None None None None N None 2.41243E-05 0 None 0 0 None 0 0 0 0 0
A/S 7683 Ig-61 76 None 0.4998 None 0.995 D 0.629 0.515 0.648076967581 gnomAD-4.0.0 1.60929E-06 None None None None N None 0 0 None 0 2.78738E-05 None 0 0 0 0 0
A/T 7776 Ig-62 75 None 0.5482 None 0.999 D 0.655 0.548 0.551009825273 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/N 7870 Ig-63 76 None 0.9767 None 0.995 N 0.819 0.634 0.86173524933 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
V/M 7963 Ig-64 75 rs1444280524 0.6719 -1.255 0.998 D 0.763 0.523 0.683767819358 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/M 7963 Ig-64 75 rs1444280524 0.6719 -1.255 0.998 D 0.763 0.523 0.683767819358 gnomAD-4.0.0 1.36895E-06 None None None None N None 0 0 None 0 2.51953E-05 None 0 0 0 1.16004E-05 0
A/T 8059 Ig-65 75 None 0.4722 None 0.996 D 0.709 0.554 0.638834684723 gnomAD-4.0.0 1.59154E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43295E-05 0
A/V 8059 Ig-65 75 rs1301357470 0.3258 -0.312 0.984 D 0.603 0.436 0.665914354922 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
A/V 8059 Ig-65 75 rs1301357470 0.3258 -0.312 0.984 D 0.603 0.436 0.665914354922 gnomAD-4.0.0 1.59136E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85856E-06 0 0
V/F 8152 Ig-66 75 rs397517507 0.7075 -1.5 0.901 D 0.825 0.504 0.856545679194 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
V/F 8152 Ig-66 75 rs397517507 0.7075 -1.5 0.901 D 0.825 0.504 0.856545679194 gnomAD-4.0.0 2.73688E-06 None None None None N None 0 0 None 0 0 None 0 1.73491E-04 1.79898E-06 0 1.65667E-05
V/I 8152 Ig-66 75 rs397517507 0.1093 -0.445 0.018 N 0.25 0.263 0.424313518543 gnomAD-2.1.1 5.36E-05 None None None None N None 4.13E-05 5.66E-05 None 0 2.56279E-04 None 9.81E-05 None 0 1.56E-05 2.80899E-04
V/I 8152 Ig-66 75 rs397517507 0.1093 -0.445 0.018 N 0.25 0.263 0.424313518543 gnomAD-3.1.2 5.26E-05 None None None None N None 7.24E-05 6.55E-05 0 0 3.8625E-04 None 0 0 2.94E-05 0 0
V/I 8152 Ig-66 75 rs397517507 0.1093 -0.445 0.018 N 0.25 0.263 0.424313518543 gnomAD-4.0.0 4.52402E-05 None None None None N None 4.00588E-05 5.00133E-05 None 0 7.35491E-04 None 0 0 2.20387E-05 6.58805E-05 3.20246E-05
V/L 8152 Ig-66 75 None 0.4708 None 0.349 N 0.563 0.412 0.418221603839 gnomAD-4.0.0 6.84221E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99491E-07 0 0
I/M 8245 Ig-67 75 None 0.293 None 0.927 N 0.661 0.39 0.484109215787 gnomAD-4.0.0 1.5914E-06 None None None None N None 0 0 None 0 2.773E-05 None 0 0 0 0 0
I/T 8245 Ig-67 75 rs1309374626 0.5385 -2.695 0.425 N 0.657 0.368 0.605748623547 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
I/T 8245 Ig-67 75 rs1309374626 0.5385 -2.695 0.425 N 0.657 0.368 0.605748623547 gnomAD-4.0.0 1.59141E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8586E-06 0 0
I/V 8245 Ig-67 75 None 0.0899 None 0.002 N 0.257 0.113 0.301789629655 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 8530 Ig-70 75 rs2077607600 0.9967 None 1.0 D 0.832 0.662 0.794151654302 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/E 8530 Ig-70 75 rs2077607600 0.9967 None 1.0 D 0.832 0.662 0.794151654302 gnomAD-4.0.0 6.57142E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47016E-05 0 0
I/V 8811 Ig-73 76 rs1346764958 0.0838 -2.293 0.001 N 0.261 0.104 0.327419511103 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
I/V 8811 Ig-73 76 rs1346764958 0.0838 -2.293 0.001 N 0.261 0.104 0.327419511103 gnomAD-4.0.0 4.8013E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25002E-06 0 0
V/L 8904 Ig-74 75 None 0.6068 None 0.948 N 0.538 0.373 0.544738774389 gnomAD-4.0.0 6.84283E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99544E-07 0 0
V/M 8904 Ig-74 75 None 0.6185 None 0.998 N 0.773 0.484 0.612591404863 gnomAD-4.0.0 2.05285E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69863E-06 0 0
A/V 9000 Ig-75 75 rs752994608 0.4333 None 0.79 N 0.399 0.527 0.672978241467 gnomAD-4.0.0 4.78971E-06 None None None None N None 0 0 None 0 0 None 0 0 6.29645E-06 0 0
I/T 9186 Ig-77 75 None 0.4596 None 0.801 N 0.727 0.386 0.720015287893 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/V 9186 Ig-77 75 rs781132732 0.0894 -1.446 0.005 N 0.256 0.087 0.478527412683 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
I/V 9186 Ig-77 75 rs781132732 0.0894 -1.446 0.005 N 0.256 0.087 0.478527412683 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.06697E-04 0
I/V 9186 Ig-77 75 rs781132732 0.0894 -1.446 0.005 N 0.256 0.087 0.478527412683 gnomAD-4.0.0 7.68624E-06 None None None None N None 0 0 None 0 0 None 0 0 0 8.04096E-05 0
A/T 9279 Ig-78 75 None 0.6867 None 0.977 D 0.696 0.688 0.559502987721 gnomAD-4.0.0 1.36967E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80036E-06 0 0
A/S 9375 Ig-79 75 rs939996965 0.5144 None 0.944 None 0.642 0.544 0.565574550146 gnomAD-4.0.0 1.59209E-06 None None None None N None 0 2.28707E-05 None 0 0 None 0 0 0 0 0
A/T 9375 Ig-79 75 rs939996965 0.727 None 0.892 None 0.658 0.545 0.599093849917 gnomAD-4.0.0 1.59209E-06 None None None None N None 0 0 None 0 2.77269E-05 None 0 0 0 0 0
A/V 9375 Ig-79 75 None 0.5821 None 0.025 None 0.379 0.458 0.432936702747 gnomAD-4.0.0 1.59195E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85946E-06 0 0
A/G 9471 Ig-80 75 None 0.3371 None 0.999 None 0.602 0.596 0.674832526739 gnomAD-4.0.0 6.8445E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99459E-07 0 0
A/S 9471 Ig-80 75 rs2076526997 0.3607 None 0.999 None 0.597 0.534 0.625091758369 gnomAD-4.0.0 6.84433E-07 None None None None N None 0 0 None 0 2.51889E-05 None 0 0 0 0 0
A/T 9471 Ig-80 75 None 0.4953 None 0.999 None 0.732 0.543 0.672034750773 gnomAD-4.0.0 6.84433E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99457E-07 0 0
V/A 9568 Ig-81 76 None 0.2851 None None None 0.301 0.113 0.280987212366 gnomAD-4.0.0 1.59133E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85858E-06 0 0
V/L 9568 Ig-81 76 rs1187950337 0.7009 -0.682 None None 0.347 0.249 0.335414705075 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
V/L 9568 Ig-81 76 rs1187950337 0.7009 -0.682 None None 0.347 0.249 0.335414705075 gnomAD-4.0.0 1.59121E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85824E-06 0 0
A/P 9664 Ig-82 75 rs1484358096 0.9934 None 1.0 None 0.883 0.757 0.739669447282 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/S 9773 Ig-83 76 None 0.6958 None 1.0 None 0.567 0.557 0.548358248517 gnomAD-4.0.0 6.84166E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99425E-07 0 0
A/T 9773 Ig-83 76 rs371163094 0.9138 -1.294 1.0 None 0.77 0.583 None gnomAD-2.1.1 8.55E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.79156E-04 1.40056E-04
A/T 9773 Ig-83 76 rs371163094 0.9138 -1.294 1.0 None 0.77 0.583 None gnomAD-3.1.2 8.55E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.61717E-04 0 4.78469E-04
A/T 9773 Ig-83 76 rs371163094 0.9138 -1.294 1.0 None 0.77 0.583 None gnomAD-4.0.0 3.01159E-04 None None None None N None 4.00481E-05 0 None 0 0 None 0 0 4.03444E-04 0 1.12065E-04
A/V 9773 Ig-83 76 None 0.8227 None 1.0 None 0.644 0.49 0.676562671139 gnomAD-4.0.0 2.73667E-06 None None None None N None 0 0 None 0 0 None 0 0 3.5977E-06 0 0
C/R 9975 Ig-84 76 None 0.9983 None 1.0 None 0.782 0.588 0.449379577644 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
Y/F 10062 Ig-85 74 rs2075481776 0.1257 None None None 0.355 0.119 0.285698343383 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.54E-05 0 0 0 None 0 0 0 0 0
Y/F 10062 Ig-85 74 rs2075481776 0.1257 None None None 0.355 0.119 0.285698343383 gnomAD-4.0.0 6.56883E-06 None None None None N None 0 6.54279E-05 None 0 0 None 0 0 0 0 0
Y/H 10062 Ig-85 74 None 0.1267 None None None 0.354 0.183 0.137902524267 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
A/T 10151 Ig-86 74 rs965765805 0.8932 None 0.996 None 0.665 0.364 0.547681404787 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
A/T 10151 Ig-86 74 rs965765805 0.8932 None 0.996 None 0.665 0.364 0.547681404787 gnomAD-4.0.0 4.05992E-06 None None None None N None 3.49577E-05 0 None 0 0 None 0 0 2.40984E-06 0 0
V/A 13854 Ig-88 75 rs1180677279 0.6761 None 0.37 N 0.273 0.192 0.274366138417 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/A 13854 Ig-88 75 rs1180677279 0.6761 None 0.37 N 0.273 0.192 0.274366138417 gnomAD-4.0.0 1.86197E-06 None None None None N None 2.67294E-05 0 None 0 0 None 0 0 8.48839E-07 0 0
V/M 13854 Ig-88 75 None 0.8207 None 0.999 N 0.718 0.25 0.420939154896 gnomAD-4.0.0 1.3702E-06 None None None None N None 0 0 None 0 0 None 0 0 9.00489E-07 1.16195E-05 0
I/V 13949 Ig-89 74 None 0.1588 None None N 0.127 0.037 0.12205267543 gnomAD-4.0.0 6.87561E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.66317E-05
A/T 14038 Ig-90 74 rs2060216548 0.826 None 1.0 N 0.78 0.462 0.310147130316 gnomAD-4.0.0 3.42228E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49864E-06 0 0
V/E 14126 Ig-91 73 rs1489018462 0.9296 None 1.0 D 0.862 0.702 0.86425461656 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
V/E 14126 Ig-91 73 rs1489018462 0.9296 None 1.0 D 0.862 0.702 0.86425461656 gnomAD-4.0.0 1.2414E-05 None None None None N None 1.33894E-05 0 None 0 0 None 0 0 1.52665E-05 0 1.60462E-05
V/M 14126 Ig-91 73 None 0.6079 None 1.0 D 0.783 0.575 0.510758216515 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 14215 Ig-92 74 None 0.5662 None 0.998 D 0.819 0.568 0.799399892791 gnomAD-4.0.0 1.59218E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85966E-06 0 0
A/P 14392 Ig-94 74 rs760934964 0.9834 -0.547 0.999 D 0.905 0.52 0.483891081108 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
A/P 14392 Ig-94 74 rs760934964 0.9834 -0.547 0.999 D 0.905 0.52 0.483891081108 gnomAD-4.0.0 3.18527E-06 None None None None N None 0 4.57457E-05 None 0 0 None 0 0 0 0 0
A/S 14392 Ig-94 74 rs760934964 0.4175 -1.771 0.982 D 0.561 0.414 0.326074293725 gnomAD-2.1.1 2.82E-05 None None None None N None 0 2.03087E-04 None 0 0 None 0 None 0 0 0
A/S 14392 Ig-94 74 rs760934964 0.4175 -1.771 0.982 D 0.561 0.414 0.326074293725 gnomAD-4.0.0 1.11484E-05 None None None None N None 0 1.6011E-04 None 0 0 None 0 0 0 0 0
A/D 14481 Ig-95 74 None 0.9802 None 1.0 D 0.861 0.602 0.864826126208 gnomAD-4.0.0 1.59227E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43336E-05 0
A/P 14481 Ig-95 74 None 0.9922 None 1.0 D 0.853 0.54 0.620428437143 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
A/G 14570 Ig-96 74 None 0.3724 None 1.0 D 0.555 0.636 0.687538048876 gnomAD-4.0.0 1.60394E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87806E-06 0 0
C/F 14659 Ig-97 74 None 0.7176 None 1.0 N 0.852 0.456 0.456275507713 gnomAD-4.0.0 6.84423E-07 None None None None N None 2.98972E-05 0 None 0 0 None 0 0 0 0 0
C/G 14659 Ig-97 74 rs1460790358 0.4776 -2.478 1.0 N 0.807 0.45 0.539251968656 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/G 14659 Ig-97 74 rs1460790358 0.4776 -2.478 1.0 N 0.807 0.45 0.539251968656 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
A/V 14748 Ig-98 74 None 0.4244 None 0.999 N 0.679 0.465 0.384419519794 gnomAD-4.0.0 1.59264E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43324E-05 0
A/V 14926 Ig-100 74 None 0.4228 None 0.998 D 0.685 0.592 0.540334051544 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
V/E 15015 Ig-101 74 rs786205390 0.7133 None 0.642 D 0.699 0.614 0.669984208518 gnomAD-4.0.0 1.98609E-05 None None None None N None 0 0 None 0 6.84029E-04 None 0 0 0 0 3.31807E-05
V/I 15015 Ig-101 74 rs1280583303 0.1343 -0.529 0.425 D 0.565 0.207 0.467074840246 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
V/I 15015 Ig-101 74 rs1280583303 0.1343 -0.529 0.425 D 0.565 0.207 0.467074840246 gnomAD-4.0.0 1.59476E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86392E-06 0 0
V/L 15015 Ig-101 74 None 0.4362 None 0.425 D 0.421 0.283 0.491112125781 gnomAD-4.0.0 1.59476E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86392E-06 0 0
L/F 15104 Ig-102 74 rs370782950 0.6224 -1.923 1.0 D 0.773 0.422 None gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
L/F 15104 Ig-102 74 rs370782950 0.6224 -1.923 1.0 D 0.773 0.422 None gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.95E-05 0 0
L/F 15104 Ig-102 74 rs370782950 0.6224 -1.923 1.0 D 0.773 0.422 None gnomAD-4.0.0 4.34152E-06 None None None None N None 0 0 None 0 0 None 0 0 5.9368E-06 0 0
L/P 15104 Ig-102 74 rs778421383 0.9866 -1.749 1.0 N 0.825 0.653 0.881115435736 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/P 15104 Ig-102 74 rs778421383 0.9866 -1.749 1.0 N 0.825 0.653 0.881115435736 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/P 15104 Ig-102 74 rs778421383 0.9866 -1.749 1.0 N 0.825 0.653 0.881115435736 gnomAD-4.0.0 1.86075E-06 None None None None N None 0 0 None 0 0 None 0 0 2.5444E-06 0 0
V/A 15193 Ig-103 74 rs1361317643 0.3963 None 0.002 N 0.257 0.167 0.413635276047 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.94628E-04 None 0 0 0 0 0
V/A 15193 Ig-103 74 rs1361317643 0.3963 None 0.002 N 0.257 0.167 0.413635276047 gnomAD-4.0.0 2.56618E-06 None None None None N None 0 0 None 0 2.4395E-05 None 0 0 0 1.34113E-05 0
V/L 15193 Ig-103 74 rs1435809981 0.6177 -0.015 0.099 N 0.478 0.24 0.515317749148 gnomAD-2.1.1 8.08E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.79E-05 0
V/L 15193 Ig-103 74 rs1435809981 0.6177 -0.015 0.099 N 0.478 0.24 0.515317749148 gnomAD-4.0.0 3.18744E-06 None None None None N None 0 0 None 0 5.57787E-05 None 0 0 0 0 0
L/F 15281 Ig-104 74 rs574423141 0.5135 -1.627 0.999 D 0.828 0.433 0.668234073123 gnomAD-2.1.1 7.26E-05 None None None None N None 0 0 None 0 0 None 5.23081E-04 None 0 1.79E-05 0
L/F 15281 Ig-104 74 rs574423141 0.5135 -1.627 0.999 D 0.828 0.433 0.668234073123 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 0 6.21118E-04 0
L/F 15281 Ig-104 74 rs574423141 0.5135 -1.627 0.999 D 0.828 0.433 0.668234073123 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
L/F 15281 Ig-104 74 rs574423141 0.5135 -1.627 0.999 D 0.828 0.433 0.668234073123 gnomAD-4.0.0 2.23216E-05 None None None None N None 0 0 None 0 0 None 0 0 4.2404E-06 3.29533E-04 1.6021E-05
A/S 15375 Ig-105 74 rs767265973 0.2615 -1.237 1.0 D 0.569 0.576 0.618243236666 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.95E-06 0
A/S 15375 Ig-105 74 rs767265973 0.2615 -1.237 1.0 D 0.569 0.576 0.618243236666 gnomAD-4.0.0 1.36969E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80019E-06 0 0
A/T 15375 Ig-105 74 rs767265973 0.3336 -1.158 1.0 D 0.731 0.531 None gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.95E-06 0
A/T 15375 Ig-105 74 rs767265973 0.3336 -1.158 1.0 D 0.731 0.531 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
A/T 15375 Ig-105 74 rs767265973 0.3336 -1.158 1.0 D 0.731 0.531 None gnomAD-4.0.0 9.92526E-06 None None None None N None 0 0 None 0 0 None 0 1.64853E-04 1.10273E-05 2.19872E-05 0
V/A 15464 Ig-106 74 rs1191623943 0.3271 -2.031 0.928 N 0.623 0.304 0.464442853059 gnomAD-2.1.1 8.11E-06 None None None None N None 0 0 None 0 0 None 0 None 4.66E-05 9E-06 0
V/A 15464 Ig-106 74 rs1191623943 0.3271 -2.031 0.928 N 0.623 0.304 0.464442853059 gnomAD-3.1.2 6.59E-06 None None None None N None 0 0 0 0 0 None 9.42E-05 0 0 0 0
V/A 15464 Ig-106 74 rs1191623943 0.3271 -2.031 0.928 N 0.623 0.304 0.464442853059 gnomAD-4.0.0 7.70634E-06 None None None None N None 0 0 None 0 0 None 7.85151E-05 0 2.39886E-06 0 0
V/I 15464 Ig-106 74 rs763137958 0.1019 -0.476 0.039 N 0.31 0.121 0.433157607263 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.99E-06 0
V/L 15464 Ig-106 74 rs763137958 0.441 -0.478 0.476 D 0.651 0.273 0.405422107966 gnomAD-2.1.1 4.05E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
V/L 15464 Ig-106 74 rs763137958 0.441 -0.478 0.476 D 0.651 0.273 0.405422107966 gnomAD-4.0.0 1.59548E-06 None None None None N None 0 2.29274E-05 None 0 0 None 0 0 0 0 0
L/F 15639 Ig-108 72 rs1226774486 0.3862 None 0.994 N 0.759 0.356 0.654265926928 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/F 15639 Ig-108 72 rs1226774486 0.3862 None 0.994 N 0.759 0.356 0.654265926928 gnomAD-4.0.0 3.85041E-06 None None None None N None 0 0 None 0 0 None 0 0 7.19193E-06 0 0
A/S 16333 Ig-110 72 rs756253347 0.7133 -1.62 1.0 D 0.555 0.691 0.737821564749 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 5.65E-05 None 0 None 0 0 0
A/S 16333 Ig-110 72 rs756253347 0.7133 -1.62 1.0 D 0.555 0.691 0.737821564749 gnomAD-4.0.0 1.59482E-06 None None None None I None 0 0 None 0 2.79018E-05 None 0 0 0 0 0
A/V 16333 Ig-110 72 None 0.6929 None 1.0 D 0.62 0.626 0.740653843246 gnomAD-4.0.0 1.3697E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79994E-06 0 0
L/R 17029 Ig-111 75 None 0.9776 None 0.761 D 0.842 0.568 0.766064486095 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
L/V 17029 Ig-111 75 None 0.1252 None 0.006 N 0.341 0.091 0.185906805712 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/A 17351 Ig-112 101 rs565423253 0.2126 -2.163 0.002 N 0.321 0.121 0.136095386433 gnomAD-2.1.1 6.79E-05 None None None None I None 0 3.23415E-04 None 0 2.89721E-04 None 5.94E-05 None 0 9.36E-06 0
V/A 17351 Ig-112 101 rs565423253 0.2126 -2.163 0.002 N 0.321 0.121 0.136095386433 gnomAD-3.1.2 3.29E-05 None None None None I None 0 1.9698E-04 0 0 3.89257E-04 None 0 0 0 0 0
V/A 17351 Ig-112 101 rs565423253 0.2126 -2.163 0.002 N 0.321 0.121 0.136095386433 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 1E-03 0 None None None 0 None
V/A 17351 Ig-112 101 rs565423253 0.2126 -2.163 0.002 N 0.321 0.121 0.136095386433 gnomAD-4.0.0 1.29841E-05 None None None None I None 0 2.29109E-04 None 0 1.36482E-04 None 0 0 1.74251E-06 1.30969E-05 0
V/G 17351 Ig-112 101 rs565423253 0.5872 None 0.468 N 0.779 0.387 None gnomAD-4.0.0 5.0422E-06 None None None None I None 0 0 None 0 0 None 0 0 6.48232E-06 0 0
V/I 17351 Ig-112 101 rs765525785 0.2191 -0.686 0.172 D 0.526 0.24 0.508455578974 gnomAD-2.1.1 5.27E-06 None None None None I None 0 4.19E-05 None 0 0 None 0 None 0 0 0
V/I 17351 Ig-112 101 rs765525785 0.2191 -0.686 0.172 D 0.526 0.24 0.508455578974 gnomAD-4.0.0 1.80083E-06 None None None None I None 0 3.14406E-05 None 0 0 None 0 0 0 0 0
A/T 17746 Ig-113 70 rs886055266 0.7403 None 0.989 D 0.667 0.683 0.68099412893 gnomAD-4.0.0 1.59247E-06 None None None None I None 0 0 None 0 2.77716E-05 None 0 0 0 0 0
A/T 18047 Ig-114 80 rs760705006 0.762 -1.582 1.0 D 0.765 0.743 0.675432577748 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
A/T 18047 Ig-114 80 rs760705006 0.762 -1.582 1.0 D 0.765 0.743 0.675432577748 gnomAD-4.0.0 1.60104E-06 None None None None N None 0 0 None 0 2.77809E-05 None 0 0 0 0 0
A/V 18047 Ig-114 80 rs373815064 0.5585 -0.414 1.0 N 0.606 0.493 None gnomAD-2.1.1 3.6E-05 None None None None N None 4.14E-05 0 None 0 0 None 0 None 0 6.31E-05 1.42005E-04
A/V 18047 Ig-114 80 rs373815064 0.5585 -0.414 1.0 N 0.606 0.493 None gnomAD-3.1.2 2.63E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 4.42E-05 0 0
A/V 18047 Ig-114 80 rs373815064 0.5585 -0.414 1.0 N 0.606 0.493 None gnomAD-4.0.0 2.54889E-05 None None None None N None 1.33987E-05 1.67572E-05 None 0 0 None 0 0 2.97493E-05 1.10317E-05 4.8216E-05
A/P 18461 Ig-115 80 None 0.9938 None 1.0 D 0.846 0.753 0.689580642904 gnomAD-4.0.0 2.05869E-06 None None None None N None 0 0 None 0 0 None 0 0 2.70139E-06 0 0
A/T 18461 Ig-115 80 rs776650966 0.3801 -1.429 1.0 D 0.729 0.778 0.635445006688 gnomAD-2.1.1 8.18E-06 None None None None N None 0 0 None 0 1.13675E-04 None 0 None 0 0 0
A/T 18461 Ig-115 80 rs776650966 0.3801 -1.429 1.0 D 0.729 0.778 0.635445006688 gnomAD-4.0.0 2.05869E-06 None None None None N None 0 0 None 0 2.52832E-05 None 0 0 9.00463E-07 1.17758E-05 0
A/V 18461 Ig-115 80 rs1278548100 0.2683 -0.501 1.0 D 0.64 0.577 0.568892413138 gnomAD-2.1.1 8.18E-06 None None None None N None 0 0 None 0 1.13701E-04 None 0 None 0 0 0
A/V 18461 Ig-115 80 rs1278548100 0.2683 -0.501 1.0 D 0.64 0.577 0.568892413138 gnomAD-4.0.0 1.60242E-06 None None None None N None 0 0 None 0 2.78365E-05 None 0 0 0 0 0
A/P 18766 Ig-116 79 rs727505268 0.9968 -0.757 1.0 D 0.858 0.837 0.77335451576 gnomAD-2.1.1 5.32E-05 None None None None I None 0 0 None 0 0 None 4.40141E-04 None 0 0 0
A/P 18766 Ig-116 79 rs727505268 0.9968 -0.757 1.0 D 0.858 0.837 0.77335451576 gnomAD-4.0.0 3.09292E-05 None None None None I None 0 0 None 0 0 None 0 0 0 5.18293E-04 1.66389E-05
A/D 19165 Ig-117 71 None 0.9973 None 1.0 D 0.807 0.78 0.773638986022 gnomAD-4.0.0 1.59354E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43575E-05 0
A/T 19165 Ig-117 71 None 0.5495 None 1.0 D 0.712 0.64 0.654251013966 gnomAD-4.0.0 6.8461E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99696E-07 0 0
V/L 19461 Ig-118 71 rs368431326 0.3028 -0.575 0.121 N 0.317 0.317 0.554116578535 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
V/L 19461 Ig-118 71 rs368431326 0.3028 -0.575 0.121 N 0.317 0.317 0.554116578535 gnomAD-4.0.0 1.5917E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8591E-06 0 0
V/M 19461 Ig-118 71 rs368431326 0.5076 -0.812 0.994 N 0.751 0.377 0.706693336582 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
V/M 19859 Ig-119 70 rs778885421 0.5732 -1.65 0.999 N 0.742 0.582 0.636570122401 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 1.78E-05 0
V/M 19859 Ig-119 70 rs778885421 0.5732 -1.65 0.999 N 0.742 0.582 0.636570122401 gnomAD-4.0.0 3.42179E-06 None None None None N None 0 0 None 0 1.00918E-04 None 0 0 8.99604E-07 0 0
V/A 20153 Ig-120 74 rs1340218064 0.2688 -2.497 0.014 N 0.322 0.269 0.229264304666 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.49E-05 0
V/A 20153 Ig-120 74 rs1340218064 0.2688 -2.497 0.014 N 0.322 0.269 0.229264304666 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/A 20153 Ig-120 74 rs1340218064 0.2688 -2.497 0.014 N 0.322 0.269 0.229264304666 gnomAD-4.0.0 6.5812E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47171E-05 0 0
V/G 20153 Ig-120 74 None 0.7239 None 0.89 D 0.792 0.528 0.759687398634 gnomAD-4.0.0 8.21301E-06 None None None None N None 0 0 None 0 0 None 0 0 1.07959E-05 0 0
A/P 20551 Ig-121 73 rs765205726 0.9946 -0.577 1.0 D 0.843 0.692 0.748375124449 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.61E-05 None 0 None 0 0 0
A/P 20551 Ig-121 73 rs765205726 0.9946 -0.577 1.0 D 0.843 0.692 0.748375124449 gnomAD-4.0.0 3.1853E-06 None None None None N None 5.66444E-05 0 None 0 2.78056E-05 None 0 0 0 0 0
A/T 20551 Ig-121 73 None 0.6116 None 1.0 D 0.739 0.713 0.701891041808 gnomAD-4.0.0 1.59265E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86051E-06 0 0
A/T 20846 Ig-122 78 rs1467838556 0.7585 -1.784 1.0 D 0.785 0.696 0.714404843072 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
A/T 20846 Ig-122 78 rs1467838556 0.7585 -1.784 1.0 D 0.785 0.696 0.714404843072 gnomAD-4.0.0 1.59183E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85915E-06 0 0
A/V 20846 Ig-122 78 rs1060500518 0.4594 -0.372 1.0 N 0.646 0.598 0.694171868089 gnomAD-2.1.1 8.05E-06 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 0
A/V 20846 Ig-122 78 rs1060500518 0.4594 -0.372 1.0 N 0.646 0.598 0.694171868089 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 20846 Ig-122 78 rs1060500518 0.4594 -0.372 1.0 N 0.646 0.598 0.694171868089 gnomAD-4.0.0 1.36363E-05 None None None None N None 0 3.33589E-05 None 0 0 None 0 0 1.69546E-05 0 0
L/F 21248 Ig-123 72 rs771468174 0.8468 -1.592 0.978 D 0.833 0.453 0.732364685296 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 4.69E-05 0 0
L/F 21248 Ig-123 72 rs771468174 0.8468 -1.592 0.978 D 0.833 0.453 0.732364685296 gnomAD-4.0.0 6.16354E-06 None None None None N None 0 0 None 0 0 None 1.87913E-05 0 6.29937E-06 0 1.65881E-05
L/P 21248 Ig-123 72 rs745323281 0.9902 -1.839 0.996 N 0.867 0.657 0.85706450173 gnomAD-2.1.1 3.24E-05 None None None None N None 0 8.54E-05 None 0 0 None 0 None 0 4.72E-05 0
L/P 21248 Ig-123 72 rs745323281 0.9902 -1.839 0.996 N 0.867 0.657 0.85706450173 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
L/P 21248 Ig-123 72 rs745323281 0.9902 -1.839 0.996 N 0.867 0.657 0.85706450173 gnomAD-4.0.0 2.10913E-05 None None None None N None 0 5.01387E-05 None 0 0 None 0 0 2.62908E-05 0 0
A/V 21938 Ig-125 73 rs1229229420 0.3634 -0.075 1.0 D 0.607 0.55 0.61396450125 gnomAD-2.1.1 4.38E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.38E-06 0
A/V 21938 Ig-125 73 rs1229229420 0.3634 -0.075 1.0 D 0.607 0.55 0.61396450125 gnomAD-4.0.0 3.55859E-06 None None None None N None 0 0 None 0 0 None 0 0 3.70183E-06 0 1.72891E-05
L/P 22336 Ig-126 72 None 0.9968 None 1.0 N 0.743 0.787 0.889071410426 gnomAD-4.0.0 3.4222E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49853E-06 0 0
L/V 22625 Ig-127 66 rs753627819 0.1543 -1.2 0.543 N 0.339 0.174 0.527857482506 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.9E-06 0
L/V 22625 Ig-127 66 rs753627819 0.1543 -1.2 0.543 N 0.339 0.174 0.527857482506 gnomAD-4.0.0 1.59208E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85989E-06 0 0
A/D 23022 Ig-128 73 None 0.9969 None 0.998 D 0.827 0.824 0.822829098805 gnomAD-4.0.0 6.84439E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99633E-07 0 0
A/S 23022 Ig-128 73 rs769814983 0.3784 -1.798 0.979 D 0.621 0.725 0.666110170337 gnomAD-2.1.1 8.06E-06 None None None None N None 0 5.81E-05 None 0 0 None 0 None 0 0 0
A/S 23022 Ig-128 73 rs769814983 0.3784 -1.798 0.979 D 0.621 0.725 0.666110170337 gnomAD-3.1.2 1.32E-05 None None None None N None 0 1.31787E-04 0 0 0 None 0 0 0 0 0
A/S 23022 Ig-128 73 rs769814983 0.3784 -1.798 0.979 D 0.621 0.725 0.666110170337 gnomAD-4.0.0 5.13078E-06 None None None None N None 0 6.79256E-05 None 0 0 None 0 0 0 0 0
A/V 23022 Ig-128 73 None 0.3861 None 0.142 N 0.438 0.509 0.453119318887 gnomAD-4.0.0 2.05332E-06 None None None None N None 0 0 None 0 0 None 0 0 2.6989E-06 0 0
I/T 23417 Ig-129 73 rs201836227 0.4703 -2.502 0.549 N 0.617 0.341 None gnomAD-2.1.1 3.14059E-04 None None None None N None 3.43401E-03 0 None 0 5.13E-05 None 0 None 0 3.12E-05 0
I/T 23417 Ig-129 73 rs201836227 0.4703 -2.502 0.549 N 0.617 0.341 None gnomAD-3.1.2 7.43382E-04 None None None None N None 2.65765E-03 1.31044E-04 0 0 0 None 0 0 1.47E-05 0 0
I/T 23417 Ig-129 73 rs201836227 0.4703 -2.502 0.549 N 0.617 0.341 None 1000 genomes 3.99361E-04 None None None None N None 1.5E-03 0 None None 0 0 None None None 0 None
I/T 23417 Ig-129 73 rs201836227 0.4703 -2.502 0.549 N 0.617 0.341 None gnomAD-4.0.0 1.58661E-04 None None None None N None 3.01462E-03 6.66644E-05 None 0 2.23075E-05 None 0 0 1.6955E-05 0 8.00359E-05
A/V 24104 Ig-131 76 rs753506004 0.2922 -0.214 0.998 D 0.682 0.533 0.713088026556 gnomAD-2.1.1 1.07E-05 None None None None N None 0 2.85E-05 None 0 0 None 0 None 0 1.57E-05 0
A/V 24104 Ig-131 76 rs753506004 0.2922 -0.214 0.998 D 0.682 0.533 0.713088026556 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 24104 Ig-131 76 rs753506004 0.2922 -0.214 0.998 D 0.682 0.533 0.713088026556 gnomAD-4.0.0 2.56945E-06 None None None None N None 0 1.69947E-05 None 0 0 None 0 0 2.40105E-06 0 0
V/A 24501 Ig-132 71 rs1400873497 0.3413 -1.891 None N 0.311 0.293 0.453772157364 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
V/A 24501 Ig-132 71 rs1400873497 0.3413 -1.891 None N 0.311 0.293 0.453772157364 gnomAD-4.0.0 1.59243E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85992E-06 0 0
V/I 24501 Ig-132 71 rs774708126 0.0724 -0.681 None N 0.224 0.146 None gnomAD-2.1.1 1.61E-05 None None None None I None 0 2.91E-05 None 0 0 None 3.28E-05 None 0 1.78E-05 0
V/I 24501 Ig-132 71 rs774708126 0.0724 -0.681 None N 0.224 0.146 None 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
V/I 24501 Ig-132 71 rs774708126 0.0724 -0.681 None N 0.224 0.146 None gnomAD-4.0.0 7.43863E-06 None None None None I None 0 1.66767E-05 None 0 2.23244E-05 None 0 0 6.78244E-06 2.19761E-05 0
A/S 25186 Ig-134 76 rs1305259914 0.3889 -1.79 0.891 D 0.692 0.553 0.508455578974 gnomAD-2.1.1 8.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 1.66334E-04
A/S 25186 Ig-134 76 rs1305259914 0.3889 -1.79 0.891 D 0.692 0.553 0.508455578974 gnomAD-4.0.0 3.4219E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49792E-06 0 0
A/T 25186 Ig-134 76 None 0.278 None 0.801 D 0.704 0.572 0.527709697666 gnomAD-4.0.0 6.8438E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15939E-05 0
A/T 26268 Ig-137 76 rs1023398113 0.512 None 0.92 D 0.72 0.63 0.53600533864 gnomAD-4.0.0 2.75416E-06 None None None None N None 0 0 None 0 0 None 0 0 3.60819E-06 0 0
A/V 26268 Ig-137 76 None 0.2233 None 0.061 N 0.281 0.384 0.440498838766 gnomAD-4.0.0 1.6141E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88339E-06 0 0
A/T 26954 Ig-139 75 None 0.3825 None 0.892 D 0.651 0.662 0.589131389434 gnomAD-4.0.0 4.77479E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71785E-06 0 3.02499E-05
L/H 27351 Ig-140 74 None 0.9846 None 1.0 D 0.841 0.596 0.882090980265 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
L/V 27351 Ig-140 74 rs1398866994 0.1278 -1.626 0.996 N 0.637 0.298 0.596316647014 gnomAD-2.1.1 4.02E-06 None None None None I None 6.46E-05 0 None 0 0 None 0 None 0 0 0
L/V 27351 Ig-140 74 rs1398866994 0.1278 -1.626 0.996 N 0.637 0.298 0.596316647014 gnomAD-4.0.0 1.59123E-06 None None None None I None 5.65547E-05 0 None 0 0 None 0 0 0 0 0
L/S 27748 Ig-141 73 rs760072489 0.9553 -3.053 1.0 N 0.872 0.562 0.84047817739 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
L/S 27748 Ig-141 73 rs760072489 0.9553 -3.053 1.0 N 0.872 0.562 0.84047817739 gnomAD-4.0.0 2.05315E-06 None None None None N None 0 0 None 0 0 None 0 0 0 3.47834E-05 0
L/V 27748 Ig-141 73 None 0.0962 None 0.999 N 0.544 0.23 0.290962096972 gnomAD-4.0.0 1.59219E-06 None None None None N None 0 2.28854E-05 None 0 0 None 0 0 0 0 0
V/L 28037 Ig-142 75 rs754285119 0.177 -0.671 0.002 N 0.291 0.272 0.250579442822 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.68E-05 0
V/L 28037 Ig-142 75 rs754285119 0.177 -0.671 0.002 N 0.291 0.272 0.250579442822 gnomAD-4.0.0 2.3269E-05 None None None None N None 0 0 None 0 0 None 0 0 2.96853E-05 0 1.65728E-05
A/P 29119 Ig-145 75 None 0.9893 None 1.0 D 0.887 0.734 0.682284130214 gnomAD-4.0.0 1.59155E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8578E-06 0 0
L/P 29515 Ig-146 72 None 0.996 None 0.998 D 0.839 0.733 0.788205437025 gnomAD-4.0.0 3.1825E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71576E-06 0 0
I/K 29914 Ig-147 73 None 0.9931 None 1.0 N 0.804 0.71 0.877788500525 gnomAD-4.0.0 6.84375E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15961E-05 0
I/M 29914 Ig-147 73 rs1230340692 0.2021 -1.705 1.0 N 0.769 0.457 0.564651752942 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
I/M 29914 Ig-147 73 rs1230340692 0.2021 -1.705 1.0 N 0.769 0.457 0.564651752942 gnomAD-4.0.0 3.42198E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49865E-06 0 0
I/T 29914 Ig-147 73 rs952680348 0.6597 -2.713 1.0 N 0.753 0.553 0.744584763437 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 9.96E-05 0 None 0 None 0 0 0
I/T 29914 Ig-147 73 rs952680348 0.6597 -2.713 1.0 N 0.753 0.553 0.744584763437 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 2.88184E-04 0 None 0 0 0 0 0
I/T 29914 Ig-147 73 rs952680348 0.6597 -2.713 1.0 N 0.753 0.553 0.744584763437 gnomAD-4.0.0 3.0991E-06 None None None None N None 0 0 None 1.01345E-04 0 None 0 0 1.6956E-06 0 0
I/V 29914 Ig-147 73 None 0.0933 None 0.993 N 0.361 0.182 0.580315741719 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86043E-06 0 0
L/F 30206 Ig-148 75 rs373893122 0.6308 None 1.0 N 0.812 0.446 None gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
L/F 30206 Ig-148 75 rs373893122 0.6308 None 1.0 N 0.812 0.446 None gnomAD-4.0.0 3.65721E-05 None None None None N None 0 0 None 0 0 None 0 0 4.74715E-05 0 4.80492E-05
L/I 30206 Ig-148 75 None 0.1868 None 0.999 N 0.556 0.373 0.602958996521 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/I 30206 Ig-148 75 None 0.1868 None 0.999 N 0.556 0.373 0.602958996521 gnomAD-4.0.0 6.57376E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47003E-05 0 0
L/V 30206 Ig-148 75 rs373893122 0.1874 -2.068 0.999 N 0.553 0.337 0.559427399277 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.58E-05 None 0 None 0 0 0
L/V 30206 Ig-148 75 rs373893122 0.1874 -2.068 0.999 N 0.553 0.337 0.559427399277 gnomAD-4.0.0 6.84401E-07 None None None None N None 0 0 None 0 2.52016E-05 None 0 0 0 0 0
A/T 30601 Ig-149 70 None 0.4254 None 1.0 D 0.729 0.751 0.67724314777 gnomAD-4.0.0 2.05528E-06 None None None None N None 0 0 None 0 0 None 0 1.73792E-04 1.80086E-06 0 0
V/M 30998 Ig-150 72 rs766129755 0.3219 -1.059 0.782 D 0.739 0.32 0.473695954338 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.3071E-04 None 0 0 0
V/M 30998 Ig-150 72 rs766129755 0.3219 -1.059 0.782 D 0.739 0.32 0.473695954338 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07211E-04 0
V/M 30998 Ig-150 72 rs766129755 0.3219 -1.059 0.782 D 0.739 0.32 0.473695954338 gnomAD-4.0.0 4.33773E-06 None None None None N None 0 0 None 0 0 None 0 0 0 7.68521E-05 0
L/P 31290 Ig-151 73 rs755965938 0.9934 -1.79 1.0 N 0.783 0.716 0.890960720082 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.87E-06 0
V/A 31690 Ig-152 70 rs1224358849 0.3786 None 0.17 N 0.369 0.251 0.445308138417 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/A 31690 Ig-152 70 rs1224358849 0.3786 None 0.17 N 0.369 0.251 0.445308138417 gnomAD-4.0.0 2.02981E-06 None None None None N None 1.74715E-05 0 None 0 0 None 0 0 1.20491E-06 0 0
V/L 31690 Ig-152 70 rs727503543 0.3979 None 0.046 N 0.353 0.359 0.455996456696 gnomAD-4.0.0 6.84294E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99594E-07 0 0
V/M 31690 Ig-152 70 rs727503543 0.5968 -0.757 0.982 N 0.753 0.522 0.653474937825 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.35E-05 0
V/M 31690 Ig-152 70 rs727503543 0.5968 -0.757 0.982 N 0.753 0.522 0.653474937825 gnomAD-3.1.2 3.28E-05 None None None None N None 0 0 0 0 0 None 0 0 7.35E-05 0 0
V/M 31690 Ig-152 70 rs727503543 0.5968 -0.757 0.982 N 0.753 0.522 0.653474937825 gnomAD-4.0.0 4.64806E-05 None None None None N None 1.33469E-05 0 None 0 0 None 0 0 6.10351E-05 0 3.20205E-05
A/S 32087 Ig-153 71 None 0.5852 None 1.0 D 0.579 0.618 0.577073266457 gnomAD-4.0.0 1.5915E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85879E-06 0 0
A/T 32087 Ig-153 71 rs1216183725 0.6079 -1.911 1.0 D 0.783 0.642 0.625394633995 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
A/T 32087 Ig-153 71 rs1216183725 0.6079 -1.911 1.0 D 0.783 0.642 0.625394633995 gnomAD-4.0.0 3.18299E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71759E-06 0 0
L/M 32381 Ig-154 75 None 0.2812 None 0.984 N 0.757 0.261 0.479286488449 gnomAD-4.0.0 6.84212E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99481E-07 0 0
L/R 32777 Ig-155 70 rs1553510213 0.9862 None 1.0 N 0.8 0.601 0.815153439622 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
L/F 33272 Ig-157 70 rs397517780 0.5684 -1.812 1.0 N 0.773 0.425 0.659830528944 gnomAD-2.1.1 4.09E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.03E-06 0
L/F 33272 Ig-157 70 rs397517780 0.5684 -1.812 1.0 N 0.773 0.425 0.659830528944 gnomAD-4.0.0 1.5824E-05 None None None None N None 3.00517E-05 0 None 0 0 None 0 0 1.80794E-05 0 3.332E-05
A/T 33572 Ig-158 77 rs1357094378 0.9263 None 0.989 D 0.658 0.775 0.480123561213 gnomAD-2.1.1 4.4E-06 None None None None N None 0 3.06E-05 None 0 0 None 0 None 0 0 0
A/T 33572 Ig-158 77 rs1357094378 0.9263 None 0.989 D 0.658 0.775 0.480123561213 gnomAD-4.0.0 1.67616E-06 None None None None N None 0 2.40489E-05 None 0 0 None 0 0 0 0 0
A/V 33572 Ig-158 77 rs1691357196 0.8092 None 0.969 N 0.698 0.663 0.53563189239 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07125E-04 0
A/V 33572 Ig-158 77 rs1691357196 0.8092 None 0.969 N 0.698 0.663 0.53563189239 gnomAD-4.0.0 6.57281E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.07125E-04 0
A/D 33671 Ig-159 76 rs1575296563 0.9995 None 1.0 D 0.875 0.808 0.881265930199 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/D 33671 Ig-159 76 rs1575296563 0.9995 None 1.0 D 0.875 0.808 0.881265930199 gnomAD-4.0.0 6.57263E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47037E-05 0 0
A/E 34335 Ig-161 78 rs1485724305 0.9963 -2.962 1.0 D 0.855 0.785 0.787264615811 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
A/E 34335 Ig-161 78 rs1485724305 0.9963 -2.962 1.0 D 0.855 0.785 0.787264615811 gnomAD-4.0.0 6.84163E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99413E-07 0 0
A/G 34335 Ig-161 78 rs1485724305 0.6173 -2.257 1.0 D 0.549 0.705 0.669087604336 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
A/G 34335 Ig-161 78 rs1485724305 0.6173 -2.257 1.0 D 0.549 0.705 0.669087604336 gnomAD-4.0.0 6.84163E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
A/S 34335 Ig-161 78 rs1267620209 0.6072 None 1.0 D 0.549 0.691 0.629801484396 gnomAD-4.0.0 1.59101E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
A/V 34335 Ig-161 78 None 0.8331 None 1.0 N 0.634 0.644 0.647173900447 gnomAD-4.0.0 6.84163E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65634E-05
A/T 34438 Ig-162 76 None 0.959 None 1.0 D 0.781 0.834 0.67255216832 gnomAD-4.0.0 1.591E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
V/A 35203 Ig-164 75 rs771136390 0.4248 -2.418 0.316 N 0.323 0.274 None gnomAD-2.1.1 4.28E-05 None None None None N None 0 0 None 0 0 None 0 None 0 9.35E-05 0
V/A 35203 Ig-164 75 rs771136390 0.4248 -2.418 0.316 N 0.323 0.274 None gnomAD-3.1.2 4.61E-05 None None None None N None 0 0 0 0 0 None 0 0 1.02965E-04 0 0
V/A 35203 Ig-164 75 rs771136390 0.4248 -2.418 0.316 N 0.323 0.274 None gnomAD-4.0.0 6.50725E-05 None None None None N None 0 0 None 0 0 None 0 0 8.13664E-05 0 1.44088E-04
V/A 35494 Ig-166 75 rs988261167 0.4127 None None N 0.297 0.227 0.309839678437 gnomAD-4.0.0 1.61438E-06 None None None None N None 0 0 None 0 0 None 0 0 2.87421E-06 0 0
V/I 35494 Ig-166 75 rs1310141973 0.0722 -1.012 None N 0.23 0.151 0.165133752707 gnomAD-2.1.1 4.16E-06 None None None None N None 0 3.13E-05 None 0 0 None 0 None 0 0 0
V/I 35494 Ig-166 75 rs1310141973 0.0722 -1.012 None N 0.23 0.151 0.165133752707 gnomAD-4.0.0 1.61355E-06 None None None None N None 0 2.43084E-05 None 0 0 None 0 0 0 0 0
S/G 35679 Ig-167 73 rs2154131258 0.027 None None N 0.337 0.139 0.0884992946249 gnomAD-4.0.0 1.59189E-06 None None None None N None 0 0 None 0 2.77331E-05 None 0 0 0 0 0
S/N 35679 Ig-167 73 None 0.7881 None 0.001 N 0.414 0.128 0.198526703765 gnomAD-4.0.0 1.59199E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85914E-06 0 0
A/V 35776 Ig-168 75 None 0.5102 None 1.0 N 0.643 0.604 0.594874987132 gnomAD-4.0.0 1.36835E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79887E-06 0 0

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.