Structural position:

  • Domain Type: Ig
  • Aligned Position: 140
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand E

SAVs

SAV Position (IC) Domain Position (Domain) RS
AlphaMissense (IC)
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
I/N 67 Ig-1 62 rs952685437 0.9778 None 1.0 D 0.911 0.879 0.924420087009 gnomAD-3.1.2 1.32E-05 None None None -0.616(TCAP) N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
I/N 67 Ig-1 62 rs952685437 0.9778 None 1.0 D 0.911 0.879 0.924420087009 gnomAD-4.0.0 1.31546E-05 None None None -0.616(TCAP) N None 0 0 None 0 0 None 0 0 2.94126E-05 0 0
I/S 163 Ig-2 60 None 0.9931 None 1.0 D 0.9 0.88 0.928496042275 gnomAD-4.0.0 1.20032E-06 None None None -0.418(TCAP) N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
I/V 163 Ig-2 60 rs2094004196 0.437 None 0.987 D 0.383 0.533 0.785477007334 gnomAD-4.0.0 1.36812E-06 None None None -0.577(TCAP) N None 0 0 None 0 0 None 0 0 0 2.31863E-05 0
I/L 1002 Ig-3 60 rs879153744 0.7188 -1.043 0.993 D 0.404 0.505 None gnomAD-2.1.1 1.59E-05 None None None None N None 1.23047E-04 5.78E-05 None 0 0 None 0 None 0 0 0
I/L 1002 Ig-3 60 rs879153744 0.7188 -1.043 0.993 D 0.404 0.505 None gnomAD-3.1.2 3.94E-05 None None None None N None 9.66E-05 1.30873E-04 0 0 0 None 0 0 0 0 0
I/L 1002 Ig-3 60 rs879153744 0.7188 -1.043 0.993 D 0.404 0.505 None gnomAD-4.0.0 8.05466E-06 None None None None N None 1.20154E-04 6.66622E-05 None 0 0 None 0 0 0 0 0
I/V 1002 Ig-3 60 None 0.6286 None 0.993 D 0.373 0.506 0.764733137972 gnomAD-4.0.0 1.36816E-06 None None None None N None 0 0 None 0 0 None 3.74406E-05 0 0 0 0
I/L 1143 Ig-4 62 rs1466464278 0.5834 -1.184 0.993 D 0.422 0.562 0.703432857381 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.81E-06 0
I/L 1143 Ig-4 62 rs1466464278 0.5834 -1.184 0.993 D 0.422 0.562 0.703432857381 gnomAD-4.0.0 1.59077E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8568E-06 0 0
I/M 1517 Ig-6 61 rs1438474327 0.3972 -1.373 0.997 D 0.697 0.62 0.701978191309 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
I/M 1517 Ig-6 61 rs1438474327 0.3972 -1.373 0.997 D 0.697 0.62 0.701978191309 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/M 1517 Ig-6 61 rs1438474327 0.3972 -1.373 0.997 D 0.697 0.62 0.701978191309 gnomAD-4.0.0 2.02973E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40978E-06 0 0
I/T 1899 Ig-9 59 None 0.9621 None 1.0 D 0.823 0.798 0.880129815424 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
I/V 1899 Ig-9 59 rs878986033 0.182 -1.644 0.993 D 0.405 0.421 0.779112364068 gnomAD-2.1.1 1.59E-05 None None None None N None 1.84593E-04 0 None 0 0 None 0 None 0 0 1.63239E-04
I/V 1899 Ig-9 59 rs878986033 0.182 -1.644 0.993 D 0.405 0.421 0.779112364068 gnomAD-3.1.2 2.63E-05 None None None None N None 9.65E-05 0 0 0 0 None 0 0 0 0 0
I/V 1899 Ig-9 59 rs878986033 0.182 -1.644 0.993 D 0.405 0.421 0.779112364068 gnomAD-4.0.0 4.33691E-06 None None None None N None 8.00726E-05 0 None 0 0 None 0 0 0 0 1.60036E-05
I/M 2138 Ig-10 61 rs368391123 0.2252 None 1.0 D 0.76 0.612 None gnomAD-3.1.2 1.31E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
I/M 2138 Ig-10 61 rs368391123 0.2252 None 1.0 D 0.76 0.612 None gnomAD-4.0.0 3.04488E-06 None None None None N None 5.24292E-05 0 None 0 0 None 0 0 0 0 0
I/V 2138 Ig-10 61 rs2092116298 0.1467 None 0.993 D 0.393 0.598 0.773490639186 gnomAD-4.0.0 1.59068E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
I/T 2233 Ig-11 60 rs1364650008 0.8065 -2.655 0.012 D 0.522 0.495 0.746771168191 gnomAD-2.1.1 7.96E-06 None None None None N None 0 0 None 0 0 None 6.53E-05 None 0 0 0
I/T 2233 Ig-11 60 rs1364650008 0.8065 -2.655 0.012 D 0.522 0.495 0.746771168191 gnomAD-4.0.0 4.7726E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.29849E-05 0
I/V 2233 Ig-11 60 rs1574638831 0.0676 None None N 0.257 0.273 0.308278614506 gnomAD-4.0.0 2.05239E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99339E-07 0 3.31181E-05
V/G 2325 Ig-12 59 None 0.9608 None 0.997 N 0.877 0.727 0.920123548367 gnomAD-4.0.0 1.59058E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85672E-06 0 0
V/I 2325 Ig-12 59 None 0.074 None 0.046 N 0.281 0.159 0.292423486923 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/L 2414 Ig-13 59 rs754815454 0.1974 -1.128 0.001 D 0.298 0.327 0.422160833541 gnomAD-2.1.1 7.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
I/L 2414 Ig-13 59 rs754815454 0.1974 -1.128 0.001 D 0.298 0.327 0.422160833541 gnomAD-4.0.0 1.36816E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79861E-06 0 0
I/V 2414 Ig-13 59 None 0.1081 None 0.002 D 0.283 0.262 0.555277862696 gnomAD-4.0.0 4.10447E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39584E-06 0 0
V/I 2591 Ig-15 59 None 0.0881 None 0.003 N 0.235 0.073 0.229924730088 gnomAD-4.0.0 1.36848E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79884E-06 0 0
I/T 2678 Ig-16 58 rs1312609443 0.6124 None 0.961 D 0.785 0.779 0.840607677293 gnomAD-4.0.0 1.59059E-06 None None None None N None 5.65163E-05 0 None 0 0 None 0 0 0 0 0
I/V 2678 Ig-16 58 None 0.1216 None 0.248 D 0.307 0.464 0.738248460819 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
I/F 2766 Ig-17 60 rs1414224093 0.6238 -1.739 0.901 D 0.727 0.685 0.594255065555 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
I/F 2766 Ig-17 60 rs1414224093 0.6238 -1.739 0.901 D 0.727 0.685 0.594255065555 gnomAD-4.0.0 1.5905E-06 None None None None N None 0 0 None 0 2.77346E-05 None 0 0 0 0 0
I/T 2766 Ig-17 60 rs755389555 0.9538 -3.105 0.722 D 0.711 0.648 0.817529497908 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
I/T 2766 Ig-17 60 rs755389555 0.9538 -3.105 0.722 D 0.711 0.648 0.817529497908 gnomAD-4.0.0 1.59051E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85651E-06 0 0
L/V 2853 Ig-18 59 rs1379690495 0.197 -1.968 0.37 N 0.335 0.174 0.385578977469 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
L/V 2853 Ig-18 59 rs1379690495 0.197 -1.968 0.37 N 0.335 0.174 0.385578977469 gnomAD-4.0.0 1.59047E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
I/S 2940 Ig-19 59 None 0.9925 None 1.0 D 0.837 0.898 0.914331358099 gnomAD-4.0.0 1.59048E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
I/V 2940 Ig-19 59 rs939966359 0.1987 None 0.993 D 0.385 0.458 0.767465642132 gnomAD-4.0.0 1.59048E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
I/M 3116 Ig-21 59 rs760230943 0.3079 -1.193 1.0 D 0.761 0.638 0.674575032278 gnomAD-2.1.1 5.58E-05 None None None None N None 0 4.05069E-04 None 0 0 None 0 None 0 0 0
I/M 3116 Ig-21 59 rs760230943 0.3079 -1.193 1.0 D 0.761 0.638 0.674575032278 gnomAD-4.0.0 2.06774E-05 None None None None N None 0 2.97252E-04 None 0 0 None 0 0 0 0 0
I/F 3207 Ig-22 61 None 0.6401 None 1.0 D 0.815 0.802 0.728460520122 gnomAD-4.0.0 1.59053E-06 None None None None N None 0 0 None 0 0 None 1.88168E-05 0 0 0 0
I/M 3207 Ig-22 61 rs750160721 0.5946 -1.405 1.0 D 0.759 0.568 0.657556492978 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.81E-06 0
I/M 3207 Ig-22 61 rs750160721 0.5946 -1.405 1.0 D 0.759 0.568 0.657556492978 gnomAD-4.0.0 3.18107E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71311E-06 0 0
I/T 3207 Ig-22 61 None 0.9845 None 1.0 D 0.819 0.882 0.839964794171 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 3403 Ig-24 59 None 0.1156 None 0.001 D 0.248 0.268 0.485634191555 gnomAD-4.0.0 3.18144E-06 None None None None N None 0 0 None 0 0 None 0 2.41313E-04 0 0 3.02206E-05
I/K 3526 Ig-25 62 rs727503677 0.8913 -2.578 None None None 0.603 None 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/K 3526 Ig-25 62 rs727503677 0.8913 -2.578 None None None 0.603 None gnomAD-4.0.0 6.84224E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15947E-05 0
I/T 3526 Ig-25 62 rs727503677 0.6812 None None None None 0.548 None gnomAD-4.0.0 2.7369E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59801E-06 0 0
I/V 3526 Ig-25 62 None 0.1968 None None None None 0.293 None 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
I/L 3719 Ig-26 60 rs758911977 0.2286 None None None None 0.266 None gnomAD-4.0.0 6.84188E-07 None None None None N None 0 0 None 0 2.51978E-05 None 0 0 0 0 0
I/V 3719 Ig-26 60 rs758911977 0.125 -1.369 None None None 0.258 None gnomAD-2.1.1 1.07E-05 None None None None N None 1.23987E-04 0 None 0 0 None 0 None 0 0 0
I/V 3719 Ig-26 60 rs758911977 0.125 -1.369 None None None 0.258 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
I/V 3719 Ig-26 60 rs758911977 0.125 -1.369 None None None 0.258 None gnomAD-4.0.0 1.85897E-06 None None None None N None 4.00342E-05 0 None 0 0 None 0 0 0 0 0
I/V 3879 Ig-27 60 rs765448965 0.1966 -1.617 0.58 D 0.337 0.446 None 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
I/V 3879 Ig-27 60 rs765448965 0.1966 -1.617 0.58 D 0.337 0.446 None gnomAD-4.0.0 3.42096E-06 None None None None N None 0 0 None 0 2.51991E-05 None 0 0 3.5978E-06 0 0
I/T 4759 Ig-30 60 None 0.9923 None 0.896 N 0.765 0.78 0.799649619666 gnomAD-4.0.0 1.59142E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85834E-06 0 0
L/F 4854 Ig-31 60 rs1196213888 0.1717 -1.755 0.942 D 0.731 0.489 0.651212884413 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
L/F 4854 Ig-31 60 rs1196213888 0.1717 -1.755 0.942 D 0.731 0.489 0.651212884413 gnomAD-3.1.2 2.63E-05 None None None None N None 2.41E-05 1.30959E-04 0 0 0 None 0 0 0 0 4.77555E-04
L/F 4854 Ig-31 60 rs1196213888 0.1717 -1.755 0.942 D 0.731 0.489 0.651212884413 Roncarati (2013) None DCM het; co-inherited with LMNA mutant p.K219T None None N WES prioritisation in single DCM family; co-segregates with severe phenotype when inherited alongside LMNA variant K219T (n = 5, 5 severe phenotype (total 16)) None None None None None None None None None None None
L/F 4854 Ig-31 60 rs1196213888 0.1717 -1.755 0.942 D 0.731 0.489 0.651212884413 gnomAD-4.0.0 7.68582E-06 None None None None N None 1.69107E-05 5.08423E-05 None 0 0 None 0 0 0 1.34005E-05 2.84349E-05
I/T 4947 Ig-32 60 None 0.934 None 1.0 D 0.823 0.833 0.860303665231 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 3.66327E-05
I/S 5041 Ig-33 61 rs752780850 0.8877 -2.887 0.667 D 0.859 0.752 None gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
I/S 5041 Ig-33 61 rs752780850 0.8877 -2.887 0.667 D 0.859 0.752 None gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/S 5041 Ig-33 61 rs752780850 0.8877 -2.887 0.667 D 0.859 0.752 None gnomAD-4.0.0 8.96728E-06 None None None None N None 0 0 None 0 0 None 0 0 1.67514E-05 0 0
I/V 5041 Ig-33 61 rs760814989 0.1126 -1.51 0.001 D 0.268 0.252 0.565612946506 gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 2.05086E-04 None 0 None 0 0 0
I/V 5041 Ig-33 61 rs760814989 0.1126 -1.51 0.001 D 0.268 0.252 0.565612946506 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92678E-04 None 0 0 0 0 0
I/V 5041 Ig-33 61 rs760814989 0.1126 -1.51 0.001 D 0.268 0.252 0.565612946506 gnomAD-4.0.0 4.95745E-06 None None None None N None 0 0 None 0 1.33708E-04 None 0 0 8.47614E-07 0 1.60113E-05
I/T 5134 Ig-34 60 rs1362573029 0.9269 -2.54 0.722 D 0.732 0.752 0.820698191142 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
I/T 5134 Ig-34 60 rs1362573029 0.9269 -2.54 0.722 D 0.732 0.752 0.820698191142 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/T 5134 Ig-34 60 rs1362573029 0.9269 -2.54 0.722 D 0.732 0.752 0.820698191142 gnomAD-4.0.0 6.57082E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46959E-05 0 0
I/F 5227 Ig-35 60 None 0.1921 None 0.998 D 0.753 0.637 0.79036882002 gnomAD-4.0.0 1.59116E-06 None None None None N None 0 0 None 0 2.773E-05 None 0 0 0 0 0
I/V 5227 Ig-35 60 rs2080946599 0.1582 None 0.333 D 0.261 0.304 0.64021514727 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
I/V 5227 Ig-35 60 rs2080946599 0.1582 None 0.333 D 0.261 0.304 0.64021514727 gnomAD-4.0.0 6.57117E-06 None None None None N None 2.41231E-05 0 None 0 0 None 0 0 0 0 0
I/M 5416 Ig-37 60 None 0.1244 None 0.994 D 0.677 0.645 0.756989136078 gnomAD-4.0.0 2.05298E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69854E-06 0 0
I/V 5416 Ig-37 60 rs1283439535 0.1223 -1.753 0.4 D 0.287 0.497 0.717175623165 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
I/V 5416 Ig-37 60 rs1283439535 0.1223 -1.753 0.4 D 0.287 0.497 0.717175623165 gnomAD-4.0.0 2.73729E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99509E-07 2.31873E-05 1.65706E-05
L/R 5603 Ig-39 61 rs956272919 0.5395 -1.64 0.995 N 0.85 0.676 0.860091853005 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/R 5603 Ig-39 61 rs956272919 0.5395 -1.64 0.995 N 0.85 0.676 0.860091853005 gnomAD-4.0.0 6.81678E-06 None None None None N None 0 0 None 0 0 None 0 0 9.32406E-06 0 0
I/F 5696 Ig-40 60 None 0.3326 None 0.497 D 0.689 0.526 0.433047596574 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
L/F 5789 Ig-41 60 None 0.1541 None 0.175 N 0.665 0.264 0.530948259028 gnomAD-4.0.0 3.18241E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71631E-06 0 0
L/V 5789 Ig-41 60 rs778228033 0.0896 -1.413 None N 0.317 0.134 0.468586609112 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
L/V 5789 Ig-41 60 rs778228033 0.0896 -1.413 None N 0.317 0.134 0.468586609112 gnomAD-4.0.0 1.59121E-06 None None None None N None 0 2.28666E-05 None 0 0 None 0 0 0 0 0
I/T 5882 Ig-42 60 rs763665430 0.9278 -3.363 0.939 D 0.753 0.793 0.831353130882 gnomAD-2.1.1 6.42E-05 None None None None N None 0 5.0954E-04 None 0 0 None 0 None 0 0 0
I/T 5882 Ig-42 60 rs763665430 0.9278 -3.363 0.939 D 0.753 0.793 0.831353130882 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.31079E-04 0 0 0 None 0 0 0 0 0
I/T 5882 Ig-42 60 rs763665430 0.9278 -3.363 0.939 D 0.753 0.793 0.831353130882 gnomAD-4.0.0 2.69097E-05 None None None None N None 0 3.55993E-04 None 0 0 None 0 0 0 0 0
L/R 6071 Ig-44 60 None 0.8589 None 0.928 D 0.884 0.735 0.863873001299 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
I/F 6165 Ig-45 61 None 0.1669 None 0.901 D 0.723 0.681 0.631006925375 gnomAD-4.0.0 1.59137E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85853E-06 0 0
I/T 6165 Ig-45 61 None 0.6472 None 0.722 D 0.705 0.683 0.833457243385 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 6165 Ig-45 61 rs886055296 0.0965 None 0.001 D 0.28 0.257 0.630592674211 gnomAD-4.0.0 1.59137E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85853E-06 0 0
I/K 6258 Ig-46 60 rs746617599 0.968 -2.194 0.939 D 0.82 0.832 0.926597058261 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
I/M 6444 Ig-48 60 None 0.2138 None 0.968 D 0.697 0.763 0.672494282746 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 6540 Ig-49 60 rs1045155829 0.526 None None N 0.333 0.366 0.492475246742 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 5.50964E-04 None 0 0 0 0 0
V/I 6540 Ig-49 60 rs1157784163 0.0837 -0.48 None N 0.273 0.133 0.165133752707 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
V/I 6540 Ig-49 60 rs1157784163 0.0837 -0.48 None N 0.273 0.133 0.165133752707 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/I 6540 Ig-49 60 rs1157784163 0.0837 -0.48 None N 0.273 0.133 0.165133752707 gnomAD-4.0.0 1.24006E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69581E-06 0 0
M/L 6727 Ig-51 61 None 0.1461 None None N 0.261 0.226 0.437100570223 gnomAD-4.0.0 1.36888E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79943E-06 0 0
F/L 6914 Ig-53 61 rs397517495 0.6126 -1.394 None N 0.317 0.129 0.311079019809 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
F/L 6914 Ig-53 61 rs397517495 0.6126 -1.394 None N 0.317 0.129 0.311079019809 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
F/L 6914 Ig-53 61 rs397517495 0.6126 -1.394 None N 0.317 0.129 0.311079019809 gnomAD-4.0.0 1.36396E-05 None None None None N None 0 0 None 0 0 None 0 0 1.8653E-05 0 0
I/F 7007 Ig-54 60 rs114626713 0.2578 -1.91 1.0 N 0.803 0.586 None gnomAD-2.1.1 1.52088E-03 None None None None N None 1.67866E-02 4.24785E-04 None 0 0 None 3.27E-05 None 0 2.34E-05 1.40568E-04
I/F 7007 Ig-54 60 rs114626713 0.2578 -1.91 1.0 N 0.803 0.586 None gnomAD-3.1.2 4.51493E-03 None None None None N None 1.61376E-02 5.89468E-04 0 0 0 None 0 0 2.94E-05 0 3.34288E-03
I/F 7007 Ig-54 60 rs114626713 0.2578 -1.91 1.0 N 0.803 0.586 None 1000 genomes 3.99361E-03 None None None None N None 1.51E-02 0 None None 0 0 None None None 0 None
I/F 7007 Ig-54 60 rs114626713 0.2578 -1.91 1.0 N 0.803 0.586 None gnomAD-4.0.0 8.13706E-04 None None None None N None 1.60082E-02 4.8343E-04 None 0 0 None 0 3.3036E-04 5.93404E-06 3.2941E-05 1.13666E-03
I/T 7007 Ig-54 60 rs773611280 0.9715 -3.553 1.0 D 0.813 0.828 0.856322546766 gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.12E-05 0
I/T 7007 Ig-54 60 rs773611280 0.9715 -3.553 1.0 D 0.813 0.828 0.856322546766 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
I/T 7007 Ig-54 60 rs773611280 0.9715 -3.553 1.0 D 0.813 0.828 0.856322546766 gnomAD-4.0.0 2.60315E-05 None None None None N None 0 0 None 0 0 None 0 0 3.47567E-05 0 1.60149E-05
L/M 7103 Ig-55 60 rs1235519093 0.138 -1.765 0.454 N 0.43 0.111 0.421184727016 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
L/M 7103 Ig-55 60 rs1235519093 0.138 -1.765 0.454 N 0.43 0.111 0.421184727016 gnomAD-4.0.0 2.73728E-06 None None None None N None 0 0 None 0 0 None 0 0 3.5984E-06 0 0
L/V 7103 Ig-55 60 None 0.0897 None 0.005 N 0.309 0.078 0.190952846119 gnomAD-4.0.0 6.84319E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99601E-07 0 0
I/M 7289 Ig-57 60 None 0.2185 None 0.81 D 0.642 0.616 0.709904841857 gnomAD-4.0.0 6.84322E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99564E-07 0 0
I/M 7478 Ig-59 60 None 0.2348 None 0.935 D 0.703 0.641 0.68019974778 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0
I/N 7478 Ig-59 60 None 0.9321 None 1.0 D 0.892 0.768 0.918946889605 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/S 7478 Ig-59 60 rs912873564 0.9635 None 0.999 D 0.842 0.752 0.928535201343 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
I/S 7478 Ig-59 60 rs912873564 0.9635 None 0.999 D 0.842 0.752 0.928535201343 gnomAD-4.0.0 6.57644E-06 None None None None N None 2.41453E-05 0 None 0 0 None 0 0 0 0 0
I/V 7478 Ig-59 60 rs1191020503 0.2508 -2.125 0.425 D 0.352 0.401 0.702337487306 gnomAD-2.1.1 9.56E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.94477E-04 0
I/V 7478 Ig-59 60 rs1191020503 0.2508 -2.125 0.425 D 0.352 0.401 0.702337487306 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
I/V 7478 Ig-59 60 rs1191020503 0.2508 -2.125 0.425 D 0.352 0.401 0.702337487306 gnomAD-4.0.0 6.19901E-06 None None None None N None 0 0 None 0 0 None 0 0 8.47797E-06 0 0
I/V 7574 Ig-60 60 rs1017841481 0.1259 -1.727 0.011 D 0.248 0.345 0.558422169324 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14811E-04 0 None 0 0 None 0 None 0 0 0
I/V 7574 Ig-60 60 rs1017841481 0.1259 -1.727 0.011 D 0.248 0.345 0.558422169324 gnomAD-3.1.2 1.97E-05 None None None None N None 7.23E-05 0 0 0 0 None 0 0 0 0 0
I/V 7574 Ig-60 60 rs1017841481 0.1259 -1.727 0.011 D 0.248 0.345 0.558422169324 gnomAD-4.0.0 4.05965E-06 None None None None N None 6.98666E-05 0 None 0 0 None 0 0 0 0 0
I/T 7761 Ig-62 60 None 0.9817 None 0.973 D 0.725 0.882 0.846497674913 gnomAD-4.0.0 1.68046E-05 None None None None N None 0 0 None 0 0 None 0 0 1.83751E-05 0 0
L/V 7855 Ig-63 61 rs1364646771 0.1172 -1.444 0.001 N 0.279 0.096 0.260249123532 gnomAD-2.1.1 3.19E-05 None None None None N None 0 1.17924E-03 None 0 0 None 0 None 0 0 0
L/V 7855 Ig-63 61 rs1364646771 0.1172 -1.444 0.001 N 0.279 0.096 0.260249123532 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
L/V 7855 Ig-63 61 rs1364646771 0.1172 -1.444 0.001 N 0.279 0.096 0.260249123532 gnomAD-4.0.0 2.56253E-06 None None None None N None 0 1.69503E-05 None 0 0 None 0 0 0 0 2.84527E-05
I/V 8230 Ig-67 60 None 0.1589 None 0.002 D 0.291 0.383 0.631027719221 gnomAD-4.0.0 1.5913E-06 None None None None N None 0 0 None 0 0 None 1.88253E-05 0 0 0 0
M/I 8609 Ig-71 61 rs1407524421 0.3643 None None N 0.279 0.222 0.221019684889 gnomAD-4.0.0 2.05282E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69863E-06 0 0
M/V 8609 Ig-71 61 rs1369418506 0.2005 None None N 0.273 0.11 0.377274123778 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.9305E-04 None 0 0 0 0 0
M/V 8609 Ig-71 61 rs1369418506 0.2005 None None N 0.273 0.11 0.377274123778 gnomAD-4.0.0 6.57445E-06 None None None None N None 0 0 None 0 1.9305E-04 None 0 0 0 0 0
I/V 8702 Ig-72 60 rs1560608555 0.1122 None 0.011 D 0.265 0.349 0.643072836008 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
I/V 8702 Ig-72 60 rs1560608555 0.1122 None 0.011 D 0.265 0.349 0.643072836008 gnomAD-4.0.0 3.18287E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71772E-06 0 0
F/C 8796 Ig-73 61 None 0.2614 None 0.929 N 0.787 0.554 0.71030341735 gnomAD-4.0.0 3.42113E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49748E-06 0 0
F/L 8796 Ig-73 61 rs1193918191 0.4696 -0.784 None N 0.3 0.135 0.213573922156 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
F/L 8796 Ig-73 61 rs1193918191 0.4696 -0.784 None N 0.3 0.135 0.213573922156 gnomAD-4.0.0 1.59133E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8585E-06 0 0
I/V 8889 Ig-74 60 rs879115210 0.1358 None 0.122 D 0.269 0.406 None gnomAD-4.0.0 3.60103E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93759E-06 0 0
L/F 9078 Ig-76 60 None 0.2329 None 0.993 N 0.799 0.43 0.476832112026 gnomAD-4.0.0 6.84223E-07 None None None None N None 0 2.23684E-05 None 0 0 None 0 0 0 0 0
F/C 9264 Ig-78 60 None 0.6586 None 0.999 N 0.839 0.665 0.8456673461 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/S 9360 Ig-79 60 rs745880964 0.9014 -3.646 1.0 None 0.883 0.887 0.936186774989 gnomAD-2.1.1 1.43E-05 None None None None N None 0 1.13122E-04 None 0 0 None 0 None 0 0 0
I/S 9360 Ig-79 60 rs745880964 0.9014 -3.646 1.0 None 0.883 0.887 0.936186774989 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
I/S 9360 Ig-79 60 rs745880964 0.9014 -3.646 1.0 None 0.883 0.887 0.936186774989 gnomAD-4.0.0 6.40467E-06 None None None None N None 0 8.47285E-05 None 0 0 None 0 0 0 0 0
I/V 9360 Ig-79 60 rs2076598524 0.1502 None 0.993 None 0.389 0.473 0.771852621965 gnomAD-4.0.0 6.84185E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99457E-06 0 0
V/A 9456 Ig-80 60 rs1185144865 0.679 -2.721 0.01 None 0.45 0.373 0.591201240261 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
V/A 9456 Ig-80 60 rs1185144865 0.679 -2.721 0.01 None 0.45 0.373 0.591201240261 gnomAD-4.0.0 1.59117E-06 None None None None N None 0 0 None 0 2.77254E-05 None 0 0 0 0 0
V/F 9456 Ig-80 60 rs772549192 0.3632 -1.738 0.055 None 0.661 0.247 0.607789150232 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/F 9456 Ig-80 60 rs772549192 0.3632 -1.738 0.055 None 0.661 0.247 0.607789150232 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
V/I 9553 Ig-81 61 rs763879363 0.0766 None None None 0.256 0.064 0.202949470691 gnomAD-4.0.0 2.7367E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59778E-06 0 0
I/S 9758 Ig-83 61 None 0.9961 None 1.0 None 0.872 0.835 0.871492119684 gnomAD-4.0.0 2.05247E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69826E-06 0 0
I/V 9758 Ig-83 61 None 0.4705 None 0.993 None 0.399 0.469 0.708901879958 gnomAD-4.0.0 1.59097E-06 None None None None N None 0 0 None 0 0 None 0 2.4108E-04 0 0 0
V/I 9960 Ig-84 61 None 0.0823 None None None 0.245 0.055 0.247322355667 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
I/T 10047 Ig-85 59 rs1468010768 0.9484 None 1.0 None 0.827 0.804 0.865251336291 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
I/M 13745 Ig-87 62 None 0.6339 None 1.0 D 0.748 0.573 0.666729369348 gnomAD-4.0.0 6.84346E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15947E-05 0
I/V 13745 Ig-87 62 rs770466417 0.2797 -1.607 0.993 D 0.392 0.479 0.801257991606 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 1.63452E-04 None 0 0 0
I/V 13745 Ig-87 62 rs770466417 0.2797 -1.607 0.993 D 0.392 0.479 0.801257991606 gnomAD-4.0.0 1.02651E-05 None None None None N None 2.98882E-05 0 None 0 0 None 0 0 8.99598E-07 1.50732E-04 0
I/M 13839 Ig-88 60 None 0.4357 None 0.968 N 0.734 0.27 0.370240404367 gnomAD-4.0.0 1.36883E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79932E-06 0 0
I/N 13839 Ig-88 60 None 0.9857 None 0.995 D 0.831 0.5 0.546780063783 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
I/V 13839 Ig-88 60 rs1433829695 0.1366 -1.537 0.026 N 0.25 0.147 0.263140351381 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
I/V 13839 Ig-88 60 rs1433829695 0.1366 -1.537 0.026 N 0.25 0.147 0.263140351381 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
I/V 13839 Ig-88 60 rs1433829695 0.1366 -1.537 0.026 N 0.25 0.147 0.263140351381 gnomAD-4.0.0 3.71927E-06 None None None None N None 0 0 None 0 0 None 0 0 4.23893E-06 0 1.60143E-05
M/R 14200 Ig-92 59 None 0.8246 None 0.106 N 0.719 0.529 0.635165634531 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
F/L 14555 Ig-96 59 rs1452980014 0.8584 -0.643 0.002 N 0.309 0.215 0.459463830659 gnomAD-2.1.1 4.2E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.72771E-04
L/S 14733 Ig-98 59 None 0.9841 None 0.999 D 0.879 0.526 0.730100223331 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
L/R 14822 Ig-99 58 rs1235710023 0.8163 -1.253 0.999 D 0.82 0.692 0.85728530589 gnomAD-2.1.1 4.26E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.23E-06 0
L/R 14822 Ig-99 58 rs1235710023 0.8163 -1.253 0.999 D 0.82 0.692 0.85728530589 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/R 14822 Ig-99 58 rs1235710023 0.8163 -1.253 0.999 D 0.82 0.692 0.85728530589 gnomAD-4.0.0 3.92008E-06 None None None None N None 0 0 None 0 0 None 0 0 7.28116E-06 0 0
I/K 14911 Ig-100 59 rs754905274 0.9847 -2.611 0.999 D 0.821 0.837 0.939999114054 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
I/K 14911 Ig-100 59 rs754905274 0.9847 -2.611 0.999 D 0.821 0.837 0.939999114054 gnomAD-4.0.0 1.59342E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4332E-05 0
I/M 14911 Ig-100 59 rs751425454 0.4391 -1.48 0.998 D 0.665 0.612 0.73347288092 gnomAD-2.1.1 3.23E-05 None None None None N None 0 0 None 0 0 None 2.61489E-04 None 0 0 0
I/M 14911 Ig-100 59 rs751425454 0.4391 -1.48 0.998 D 0.665 0.612 0.73347288092 gnomAD-4.0.0 1.43767E-05 None None None None N None 0 0 None 0 0 None 0 0 0 2.43523E-04 0
I/T 14911 Ig-100 59 rs754905274 0.9686 -3.419 0.989 D 0.724 0.722 0.876608931427 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
I/T 14911 Ig-100 59 rs754905274 0.9686 -3.419 0.989 D 0.724 0.722 0.876608931427 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
I/T 14911 Ig-100 59 rs754905274 0.9686 -3.419 0.989 D 0.724 0.722 0.876608931427 gnomAD-4.0.0 6.57921E-06 None None None None N None 2.41348E-05 0 None 0 0 None 0 0 0 0 0
I/T 15000 Ig-101 59 rs886055275 0.9625 None 0.722 D 0.684 0.727 0.807264362512 gnomAD-4.0.0 1.59515E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03269E-05
I/V 15000 Ig-101 59 rs775264673 0.1615 -1.719 0.001 D 0.289 0.192 0.534719010399 gnomAD-2.1.1 4.04E-06 None None None None N None 6.48E-05 0 None 0 0 None 0 None 0 0 0
I/V 15000 Ig-101 59 rs775264673 0.1615 -1.719 0.001 D 0.289 0.192 0.534719010399 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
I/V 15000 Ig-101 59 rs775264673 0.1615 -1.719 0.001 D 0.289 0.192 0.534719010399 gnomAD-4.0.0 6.57981E-06 None None None None N None 2.41371E-05 0 None 0 0 None 0 0 0 0 0
I/T 15089 Ig-102 59 None 0.9604 None 0.989 D 0.757 0.747 0.901871528509 gnomAD-4.0.0 1.59375E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43332E-05 0
I/N 15266 Ig-104 59 rs1214768698 0.967 -3.058 0.681 D 0.861 0.751 0.805582790611 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 5.59E-05 None 0 None 0 0 0
I/N 15266 Ig-104 59 rs1214768698 0.967 -3.058 0.681 D 0.861 0.751 0.805582790611 gnomAD-4.0.0 1.59328E-06 None None None None N None 0 0 None 0 2.77747E-05 None 0 0 0 0 0
I/M 15360 Ig-105 59 rs746352388 0.3937 -1.467 0.998 D 0.685 0.614 0.666064869456 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
I/M 15360 Ig-105 59 rs746352388 0.3937 -1.467 0.998 D 0.685 0.614 0.666064869456 gnomAD-4.0.0 3.18877E-06 None None None None N None 0 0 None 0 0 None 0 0 5.72849E-06 0 0
I/T 15360 Ig-105 59 rs1465320800 0.9687 -3.013 0.989 D 0.755 0.76 0.844994757482 gnomAD-2.1.1 1.43E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.14E-05 0
I/T 15360 Ig-105 59 rs1465320800 0.9687 -3.013 0.989 D 0.755 0.76 0.844994757482 gnomAD-3.1.2 1.98E-05 None None None None N None 2.42E-05 0 0 0 0 None 0 0 2.95E-05 0 0
I/T 15360 Ig-105 59 rs1465320800 0.9687 -3.013 0.989 D 0.755 0.76 0.844994757482 gnomAD-4.0.0 1.92282E-05 None None None None N None 1.33711E-05 0 None 0 0 None 0 0 2.54473E-05 0 0
I/V 15360 Ig-105 59 rs758542642 0.1462 -1.454 0.333 D 0.263 0.425 0.717905595574 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
I/V 15360 Ig-105 59 rs758542642 0.1462 -1.454 0.333 D 0.263 0.425 0.717905595574 gnomAD-4.0.0 1.59436E-06 None None None None N None 0 2.29085E-05 None 0 0 None 0 0 0 0 0
I/L 16318 Ig-110 57 rs962564634 0.3612 None 0.889 D 0.415 0.489 0.721054117171 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
I/L 16318 Ig-110 57 rs962564634 0.3612 None 0.889 D 0.415 0.489 0.721054117171 gnomAD-4.0.0 1.31709E-05 None None None None N None 0 0 None 0 0 None 0 0 2.94594E-05 0 0
I/T 16318 Ig-110 57 rs72677243 0.9089 -2.811 0.989 D 0.753 0.748 None gnomAD-2.1.1 1.17164E-03 None None None None N None 1.24131E-04 1.10726E-03 None 1.02693E-02 5.2E-05 None 4.25142E-04 None 8.01E-05 1.19961E-03 1.41084E-03
I/T 16318 Ig-110 57 rs72677243 0.9089 -2.811 0.989 D 0.753 0.748 None gnomAD-3.1.2 9.55242E-04 None None None None N None 2.41663E-04 7.8854E-04 0 1.09763E-02 0 None 0 9.49367E-03 1.10463E-03 4.16667E-04 2.39693E-03
I/T 16318 Ig-110 57 rs72677243 0.9089 -2.811 0.989 D 0.753 0.748 None 1000 genomes 3.99361E-04 None None None None N None 8E-04 1.4E-03 None None 0 0 None None None 0 None
I/T 16318 Ig-110 57 rs72677243 0.9089 -2.811 0.989 D 0.753 0.748 None gnomAD-4.0.0 1.02707E-03 None None None None N None 2.40327E-04 1.08579E-03 None 9.70907E-03 0 None 4.69087E-05 1.65344E-03 9.66821E-04 5.82341E-04 1.28201E-03
I/V 16318 Ig-110 57 rs962564634 0.0992 -1.651 0.333 D 0.235 0.358 0.678242657409 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
I/V 16318 Ig-110 57 rs962564634 0.0992 -1.651 0.333 D 0.235 0.358 0.678242657409 gnomAD-4.0.0 3.42363E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79979E-06 3.47987E-05 0
V/A 17336 Ig-112 86 rs1315720730 0.8524 -1.922 0.052 N 0.598 0.531 0.493156425868 gnomAD-2.1.1 4.16E-06 None None None None N None 0 0 None 0 0 None 3.47E-05 None 0 0 0
V/A 17336 Ig-112 86 rs1315720730 0.8524 -1.922 0.052 N 0.598 0.531 0.493156425868 gnomAD-4.0.0 1.6174E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.47033E-05 0
V/I 17336 Ig-112 86 rs567781604 0.0685 -0.844 0.001 N 0.215 0.101 0.177238962908 gnomAD-2.1.1 4.78E-05 None None None None N None 4.16E-05 0 None 0 0 None 0 None 0 9.62E-05 0
V/I 17336 Ig-112 86 rs567781604 0.0685 -0.844 0.001 N 0.215 0.101 0.177238962908 gnomAD-3.1.2 3.95E-05 None None None None N None 0 0 0 0 0 None 0 0 5.89E-05 2.07383E-04 4.78469E-04
V/I 17336 Ig-112 86 rs567781604 0.0685 -0.844 0.001 N 0.215 0.101 0.177238962908 gnomAD-4.0.0 5.0526E-05 None None None None N None 2.68861E-05 3.39732E-05 None 0 0 None 6.29247E-05 0 5.70352E-05 1.12075E-05 8.06894E-05
I/N 17731 Ig-113 55 rs72646809 0.9607 -2.899 1.0 D 0.901 0.846 0.93495532163 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
I/N 17731 Ig-113 55 rs72646809 0.9607 -2.899 1.0 D 0.901 0.846 0.93495532163 gnomAD-4.0.0 1.36878E-06 None None None None N None 5.98193E-05 0 None 0 0 None 0 0 0 0 0
I/T 17731 Ig-113 55 rs72646809 0.9513 -3.166 1.0 D 0.834 0.801 None gnomAD-2.1.1 1.37245E-02 None None None None N None 2.19117E-03 6.84389E-03 None 3.00483E-02 5.13E-05 None 9.41238E-03 None 4.10105E-02 1.4082E-02 1.69896E-02
I/T 17731 Ig-113 55 rs72646809 0.9513 -3.166 1.0 D 0.834 0.801 None gnomAD-3.1.2 1.10997E-02 None None None None N None 2.51014E-03 4.72007E-03 3.28947E-03 3.60438E-02 0 None 4.71165E-02 2.21519E-02 1.1924E-02 8.27472E-03 1.24283E-02
I/T 17731 Ig-113 55 rs72646809 0.9513 -3.166 1.0 D 0.834 0.801 None 1000 genomes 4.59265E-03 None None None None N None 0 2.9E-03 None None 0 1.79E-02 None None None 3.1E-03 None
I/T 17731 Ig-113 55 rs72646809 0.9513 -3.166 1.0 D 0.834 0.801 None gnomAD-4.0.0 1.1447E-02 None None None None N None 2.21369E-03 6.61777E-03 None 3.08634E-02 2.23204E-05 None 3.96176E-02 1.33796E-02 1.0875E-02 9.00386E-03 1.15944E-02
I/V 17731 Ig-113 55 None 0.1641 None 0.993 D 0.397 0.455 0.77874929467 gnomAD-4.0.0 1.59225E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86062E-06 0 0
I/T 18032 Ig-114 65 None 0.9339 None 0.896 D 0.81 0.844 0.818036558674 gnomAD-4.0.0 1.59341E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02828E-05
I/V 18032 Ig-114 65 rs1227589199 0.1524 -1.488 0.437 D 0.421 0.522 0.528860544761 gnomAD-2.1.1 4.04E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
I/V 18032 Ig-114 65 rs1227589199 0.1524 -1.488 0.437 D 0.421 0.522 0.528860544761 gnomAD-4.0.0 3.1867E-06 None None None None N None 0 4.57498E-05 None 0 0 None 0 0 0 0 0
I/F 18751 Ig-116 64 None 0.4372 None 0.998 D 0.721 0.836 0.816700955439 gnomAD-4.0.0 2.05369E-06 None None None None N None 0 0 None 0 0 None 0 1.73792E-04 0 2.32213E-05 0
I/M 19150 Ig-117 56 rs2052065992 0.3549 None 1.0 D 0.754 0.694 0.750852903986 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
I/M 19150 Ig-117 56 rs2052065992 0.3549 None 1.0 D 0.754 0.694 0.750852903986 gnomAD-4.0.0 6.57739E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47115E-05 0 0
I/T 19150 Ig-117 56 rs1553659483 0.9841 None 1.0 D 0.804 0.781 0.845731052345 gnomAD-4.0.0 3.18484E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71997E-06 0 0
K/E 19446 Ig-118 56 None 0.527 None 0.425 N 0.477 0.204 0.39709148275 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
K/N 19446 Ig-118 56 rs536286313 0.5583 -1.036 0.01 N 0.271 0.137 0.162503812791 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
K/N 19446 Ig-118 56 rs536286313 0.5583 -1.036 0.01 N 0.271 0.137 0.162503812791 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
K/N 19446 Ig-118 56 rs536286313 0.5583 -1.036 0.01 N 0.271 0.137 0.162503812791 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
K/N 19446 Ig-118 56 rs536286313 0.5583 -1.036 0.01 N 0.271 0.137 0.162503812791 gnomAD-4.0.0 6.57022E-06 None None None None N None 2.40616E-05 0 None 0 0 None 0 0 0 0 0
I/N 20138 Ig-120 59 rs762525368 0.962 -3.117 0.997 D 0.885 0.748 0.931505991749 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
I/N 20138 Ig-120 59 rs762525368 0.962 -3.117 0.997 D 0.885 0.748 0.931505991749 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
I/N 20138 Ig-120 59 rs762525368 0.962 -3.117 0.997 D 0.885 0.748 0.931505991749 gnomAD-4.0.0 3.40949E-05 None None None None N None 0 0 None 0 0 None 0 0 4.57833E-05 0 1.60143E-05
I/T 20138 Ig-120 59 rs762525368 0.9596 None 0.991 D 0.772 0.79 0.89323557897 gnomAD-4.0.0 6.84393E-07 None None None None N None 0 0 None 0 2.51953E-05 None 0 0 0 0 0
L/R 20831 Ig-122 63 None 0.8256 None 1.0 N 0.893 0.622 0.71338130811 gnomAD-4.0.0 1.59183E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43291E-05 0
I/M 21233 Ig-123 57 None 0.4145 None 1.0 D 0.783 0.651 0.704424639576 gnomAD-4.0.0 6.84706E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99751E-07 0 0
I/T 21233 Ig-123 57 None 0.9595 None 1.0 D 0.823 0.782 0.873723102753 gnomAD-4.0.0 6.84678E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99743E-07 0 0
I/T 21526 Ig-124 58 rs776476433 0.9448 -3.335 0.324 D 0.703 0.679 0.826635456628 gnomAD-2.1.1 1.21E-05 None None None None N None 0 8.7E-05 None 0 0 None 0 None 0 0 0
I/T 21526 Ig-124 58 rs776476433 0.9448 -3.335 0.324 D 0.703 0.679 0.826635456628 gnomAD-4.0.0 3.42188E-06 None None None None N None 0 6.70871E-05 None 0 0 None 0 0 0 2.3197E-05 0
I/V 21526 Ig-124 58 rs1160431016 0.1653 -1.857 0.001 D 0.259 0.325 0.643445338908 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.97E-05 0 None 0 None 0 0 0
I/V 21526 Ig-124 58 rs1160431016 0.1653 -1.857 0.001 D 0.259 0.325 0.643445338908 gnomAD-4.0.0 1.59227E-06 None None None None N None 0 0 None 4.76963E-05 0 None 0 0 0 0 0
V/M 22610 Ig-127 51 None 0.3751 None 0.994 N 0.667 0.348 0.68758794608 gnomAD-4.0.0 3.18377E-06 None None None None N None 0 0 None 0 0 None 0 0 5.71922E-06 0 0
I/T 23007 Ig-128 58 rs1366649624 0.6856 -2.786 0.124 D 0.702 0.732 0.78812575404 gnomAD-2.1.1 4.02E-06 None None None None N None 0 2.9E-05 None 0 0 None 0 None 0 0 0
I/T 23007 Ig-128 58 rs1366649624 0.6856 -2.786 0.124 D 0.702 0.732 0.78812575404 gnomAD-4.0.0 1.5921E-06 None None None None N None 0 2.28707E-05 None 0 0 None 0 0 0 0 0
I/V 23007 Ig-128 58 rs750858964 0.0727 -1.597 None D 0.276 0.327 0.321393169273 gnomAD-2.1.1 8.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.78E-05 0
I/V 23007 Ig-128 58 rs750858964 0.0727 -1.597 None D 0.276 0.327 0.321393169273 gnomAD-4.0.0 3.18417E-06 None None None None N None 0 0 None 0 0 None 0 2.41313E-04 2.85971E-06 0 0
I/T 23402 Ig-129 58 None 0.9358 None 0.014 D 0.554 0.708 0.790246465493 gnomAD-4.0.0 2.73739E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59868E-06 0 0
I/M 23693 Ig-130 57 None 0.205 None 0.998 D 0.691 0.574 0.73377832567 gnomAD-4.0.0 2.05308E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69875E-06 0 0
N/K 24089 Ig-131 61 None 0.6802 None 0.684 N 0.668 0.201 0.212008924253 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.66327E-05
N/Y 24089 Ig-131 61 rs1709123437 0.2429 None 0.979 N 0.85 0.367 0.546607571196 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
N/Y 24089 Ig-131 61 rs1709123437 0.2429 None 0.979 N 0.85 0.367 0.546607571196 gnomAD-4.0.0 2.57093E-06 None None None None N None 3.38822E-05 0 None 0 0 None 0 0 0 0 0
I/V 24775 Ig-133 60 rs766089174 0.1227 -1.623 0.103 D 0.3 0.464 0.639007618878 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
I/V 24775 Ig-133 60 rs766089174 0.1227 -1.623 0.103 D 0.3 0.464 0.639007618878 gnomAD-4.0.0 9.58031E-06 None None None None N None 0 0 None 0 0 None 0 0 1.25941E-05 0 0
V/I 25171 Ig-134 61 None 0.0788 None 0.025 N 0.332 0.061 0.162503812791 gnomAD-4.0.0 1.59191E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85925E-06 0 0
L/P 25568 Ig-135 55 None 0.9815 None 0.994 N 0.855 0.778 0.87689326119 gnomAD-4.0.0 1.36885E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79927E-06 0 0
I/N 25857 Ig-136 60 rs781755787 0.9598 -2.663 0.997 D 0.867 0.794 0.935398395153 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 1.11495E-04 None 0 None 0 0 0
I/N 25857 Ig-136 60 rs781755787 0.9598 -2.663 0.997 D 0.867 0.794 0.935398395153 gnomAD-4.0.0 1.36867E-06 None None None None N None 0 0 None 0 5.04185E-05 None 0 0 0 0 0
I/T 25857 Ig-136 60 None 0.9394 None 0.991 D 0.771 0.797 0.870264459797 gnomAD-4.0.0 6.84333E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1595E-05 0
I/V 25857 Ig-136 60 rs878865219 0.1095 None 0.58 D 0.4 0.466 None gnomAD-4.0.0 4.10596E-06 None None None None N None 0 0 None 0 0 None 0 0 5.39764E-06 0 0
I/V 26650 Ig-138 57 None 0.0998 None 0.333 D 0.237 0.459 0.514472708086 gnomAD-4.0.0 3.42128E-06 None None None None N None 2.989E-05 0 None 0 0 None 0 0 2.6986E-06 1.15937E-05 0
I/N 26939 Ig-139 60 rs1705331466 0.9643 None 0.975 D 0.853 0.827 0.921599369569 gnomAD-4.0.0 1.36853E-06 None None None None N None 0 0 None 0 5.03931E-05 None 0 0 0 0 0
I/T 26939 Ig-139 60 rs1705331466 0.9541 None 0.645 D 0.763 0.825 0.839350010842 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
I/T 26939 Ig-139 60 rs1705331466 0.9541 None 0.645 D 0.763 0.825 0.839350010842 gnomAD-4.0.0 3.71873E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08619E-06 0 0
I/F 27733 Ig-141 58 rs1393748586 0.6127 -1.622 0.998 D 0.713 0.76 0.835424349326 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 0 1.65782E-04
I/F 27733 Ig-141 58 rs1393748586 0.6127 -1.622 0.998 D 0.713 0.76 0.835424349326 gnomAD-4.0.0 1.59169E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02517E-05
I/L 27733 Ig-141 58 None 0.195 None 0.889 D 0.479 0.606 0.760994400293 gnomAD-4.0.0 1.59169E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02517E-05
I/T 27733 Ig-141 58 rs759928014 0.4989 -1.753 0.989 D 0.757 0.807 0.891955713682 gnomAD-2.1.1 2.01E-05 None None None None I None 0 5.81E-05 None 0 0 None 6.54E-05 None 0 8.9E-06 0
I/T 27733 Ig-141 58 rs759928014 0.4989 -1.753 0.989 D 0.757 0.807 0.891955713682 gnomAD-4.0.0 3.48986E-05 None None None None I None 0 6.71081E-05 None 0 0 None 0 0 4.04775E-05 3.4781E-05 0
V/A 28417 Ig-143 60 None 0.6636 None 0.892 D 0.612 0.608 0.729265719692 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 6.07533E-05 0
I/T 28812 Ig-144 58 rs727504959 0.4998 -1.291 0.124 D 0.795 0.755 0.757070926547 gnomAD-2.1.1 1.65E-05 None None None None N None 0 2.93E-05 None 0 0 None 0 None 4.8E-05 1.82E-05 0
I/T 28812 Ig-144 58 rs727504959 0.4998 -1.291 0.124 D 0.795 0.755 0.757070926547 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 0 None 0 0 4.41E-05 0 0
I/T 28812 Ig-144 58 rs727504959 0.4998 -1.291 0.124 D 0.795 0.755 0.757070926547 gnomAD-4.0.0 1.80386E-05 None None None None N None 0 1.67785E-05 None 0 0 None 7.86015E-05 0 1.69967E-05 0 4.82191E-05
I/V 28812 Ig-144 58 rs201918596 0.0609 -0.993 0.001 D 0.357 0.229 None gnomAD-2.1.1 2.37328E-04 None None None None N None 2.60999E-03 2.86E-05 None 0 0 None 0 None 0 0 1.44051E-04
I/V 28812 Ig-144 58 rs201918596 0.0609 -0.993 0.001 D 0.357 0.229 None gnomAD-3.1.2 6.899E-04 None None None None N None 2.48492E-03 1.30941E-04 0 0 0 None 0 0 0 0 0
I/V 28812 Ig-144 58 rs201918596 0.0609 -0.993 0.001 D 0.357 0.229 None 1000 genomes 9.98403E-04 None None None None N None 3.8E-03 0 None None 0 0 None None None 0 None
I/V 28812 Ig-144 58 rs201918596 0.0609 -0.993 0.001 D 0.357 0.229 None gnomAD-4.0.0 1.27505E-04 None None None None N None 2.62996E-03 5.03389E-05 None 0 0 None 0 0 0 0 8.03626E-05
I/L 29500 Ig-146 57 rs761934380 0.1752 -0.954 0.005 D 0.299 0.374 0.585808247695 gnomAD-2.1.1 1.61E-05 None None None None N None 0 0 None 0 0 None 1.30745E-04 None 0 0 0
I/L 29500 Ig-146 57 rs761934380 0.1752 -0.954 0.005 D 0.299 0.374 0.585808247695 gnomAD-4.0.0 7.52669E-06 None None None None N None 0 0 None 0 0 None 0 0 8.9946E-07 9.27472E-05 3.31334E-05
I/M 29500 Ig-146 57 None 0.2036 None 0.976 D 0.697 0.749 0.716492818265 gnomAD-4.0.0 6.84265E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99493E-07 0 0
I/T 30191 Ig-148 60 None 0.9332 None 0.961 D 0.717 0.762 0.856007427658 gnomAD-4.0.0 2.06318E-06 None None None None N None 0 0 None 0 0 None 0 0 1.8033E-06 1.18751E-05 0
I/V 30191 Ig-148 60 rs746824077 0.1176 -1.605 0.122 D 0.286 0.382 0.541512316009 gnomAD-2.1.1 1.11E-05 None None None None N None 0 0 None 0 0 None 7.22E-05 None 0 8E-06 0
I/V 30191 Ig-148 60 rs746824077 0.1176 -1.605 0.122 D 0.286 0.382 0.541512316009 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
I/V 30191 Ig-148 60 rs746824077 0.1176 -1.605 0.122 D 0.286 0.382 0.541512316009 gnomAD-4.0.0 3.11628E-06 None None None None N None 0 0 None 0 0 None 0 0 8.50011E-07 4.51101E-05 0
V/A 31275 Ig-151 58 None 0.6051 None 0.002 N 0.375 0.397 0.506734346222 gnomAD-4.0.0 1.59111E-06 None None None None N None 0 0 None 0 0 None 1.88246E-05 0 0 0 0
V/I 31275 Ig-151 58 rs1287511397 0.097 -0.659 0.002 N 0.343 0.058 0.165133752707 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/I 31275 Ig-151 58 rs1287511397 0.097 -0.659 0.002 N 0.343 0.058 0.165133752707 gnomAD-4.0.0 1.59114E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85789E-06 0 0
V/L 31275 Ig-151 58 None 0.3308 None 0.034 N 0.611 0.103 0.256793551483 gnomAD-4.0.0 1.59114E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85789E-06 0 0
I/T 31675 Ig-152 55 None 0.9378 None 0.939 D 0.749 0.853 0.837465136938 gnomAD-4.0.0 1.59123E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85832E-06 0 0
V/G 32072 Ig-153 56 None 0.8627 None 0.971 D 0.87 0.696 0.932966899989 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
V/L 32072 Ig-153 56 rs1375176606 0.3166 -0.612 0.247 N 0.523 0.237 0.365317461125 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
V/L 32072 Ig-153 56 rs1375176606 0.3166 -0.612 0.247 N 0.523 0.237 0.365317461125 gnomAD-4.0.0 1.59139E-06 None None None None N None 5.65867E-05 0 None 0 0 None 0 0 0 0 0
I/S 32366 Ig-154 60 rs1695213145 0.9447 None 0.991 D 0.828 0.885 0.938880340865 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
I/V 32366 Ig-154 60 rs1304811622 0.1056 -1.848 0.02 D 0.259 0.354 0.538792235971 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/M 32762 Ig-155 55 rs794729550 0.2813 None 1.0 D 0.763 0.57 0.730747000282 gnomAD-4.0.0 5.47355E-06 None None None None N None 0 0 None 0 2.5194E-05 None 0 0 0 0 1.15955E-04
I/N 32762 Ig-155 55 None 0.9472 None 1.0 D 0.879 0.773 0.933577829633 gnomAD-4.0.0 1.59118E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8582E-06 0 0
V/I 33160 Ig-156 60 rs794729553 0.0776 None 0.023 N 0.272 0.077 0.286081765059 gnomAD-4.0.0 2.73691E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59789E-06 0 0
V/L 33160 Ig-156 60 None 0.3428 None 0.175 N 0.549 0.138 0.538283067721 gnomAD-4.0.0 2.73691E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59789E-06 0 0
M/I 33256 Ig-157 54 rs752102823 0.2287 -1.18 None N 0.271 0.117 0.282575091529 gnomAD-2.1.1 2.02E-05 None None None None N None 0 1.45994E-04 None 0 0 None 0 None 0 0 0
M/I 33256 Ig-157 54 rs752102823 0.2287 -1.18 None N 0.271 0.117 0.282575091529 gnomAD-4.0.0 7.96686E-06 None None None None N None 0 1.14574E-04 None 0 0 None 0 0 0 0 0
M/L 33256 Ig-157 54 rs755612464 0.1505 -1.181 None N 0.257 0.264 0.34854441366 gnomAD-2.1.1 4.05E-06 None None None None N None 6.51E-05 0 None 0 0 None 0 None 0 0 0
M/L 33256 Ig-157 54 rs755612464 0.1505 -1.181 None N 0.257 0.264 0.34854441366 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
M/L 33256 Ig-157 54 rs755612464 0.1505 -1.181 None N 0.257 0.264 0.34854441366 gnomAD-4.0.0 6.57004E-06 None None None None N None 2.41243E-05 0 None 0 0 None 0 0 0 0 0
I/M 33557 Ig-158 62 rs771784438 0.4832 -1.837 0.233 D 0.413 0.468 0.594650670498 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/T 33557 Ig-158 62 rs1007331943 0.9624 -3.35 0.997 D 0.722 0.794 0.862868373484 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.97E-06 0
I/T 33557 Ig-158 62 rs1007331943 0.9624 -3.35 0.997 D 0.722 0.794 0.862868373484 gnomAD-4.0.0 1.99117E-05 None None None None N None 2.99796E-05 0 None 0 0 None 0 0 2.52657E-05 0 0
F/L 33655 Ig-159 60 rs984242810 0.9866 None 1.0 N 0.627 0.558 0.600342123009 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
F/L 33655 Ig-159 60 rs984242810 0.9866 None 1.0 N 0.627 0.558 0.600342123009 gnomAD-4.0.0 3.71809E-06 None None None None N None 0 0 None 0 0 None 0 0 5.08562E-06 0 0
F/Y 33655 Ig-159 60 rs1032594285 0.8483 -1.878 1.0 D 0.612 0.493 0.602748970639 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
F/Y 33655 Ig-159 60 rs1032594285 0.8483 -1.878 1.0 D 0.612 0.493 0.602748970639 gnomAD-4.0.0 1.59131E-06 None None None None N None 0 0 None 0 2.77254E-05 None 0 0 0 0 0
V/I 34196 Ig-160 60 rs1185169765 0.0778 None None N 0.255 0.099 0.110078149338 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/I 34196 Ig-160 60 rs1185169765 0.0778 None None N 0.255 0.099 0.110078149338 gnomAD-4.0.0 2.47856E-06 None None None None N None 1.33479E-05 0 None 0 0 None 0 0 2.54264E-06 0 0
I/S 34423 Ig-162 61 rs756074712 0.9914 -3.597 0.997 D 0.848 0.903 0.881115435736 gnomAD-2.1.1 2.01E-05 None None None None N None 0 0 None 0 0 None 1.63388E-04 None 0 0 0
I/S 34423 Ig-162 61 rs756074712 0.9914 -3.597 0.997 D 0.848 0.903 0.881115435736 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.14079E-04 0
I/S 34423 Ig-162 61 rs756074712 0.9914 -3.597 0.997 D 0.848 0.903 0.881115435736 gnomAD-4.0.0 9.29617E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.64676E-04 0
I/V 34423 Ig-162 61 rs777746298 0.2718 -1.681 0.198 D 0.249 0.416 0.540606920606 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 4.68E-05 1.77E-05 0
I/V 34423 Ig-162 61 rs777746298 0.2718 -1.681 0.198 D 0.249 0.416 0.540606920606 gnomAD-4.0.0 1.11413E-05 None None None None N None 0 0 None 0 0 None 3.78372E-05 0 1.14305E-05 0 3.02407E-05
I/L 35188 Ig-164 60 rs727504491 0.2506 -0.702 0.983 D 0.421 0.677 0.718028692739 gnomAD-2.1.1 2.49E-05 None None None None N None 0 0 None 0 0 None 0 None 0 4.67E-05 1.40056E-04
I/L 35188 Ig-164 60 rs727504491 0.2506 -0.702 0.983 D 0.421 0.677 0.718028692739 gnomAD-3.1.2 2.63E-05 None None None None N None 0 0 0 0 0 None 0 3.16456E-03 4.41E-05 0 0
I/L 35188 Ig-164 60 rs727504491 0.2506 -0.702 0.983 D 0.421 0.677 0.718028692739 gnomAD-4.0.0 2.54028E-05 None None None None N None 0 0 None 0 0 None 0 1.64962E-03 2.37312E-05 1.09791E-05 3.20061E-05
I/M 35188 Ig-164 60 None 0.2059 None 0.999 D 0.769 0.507 0.633405343067 gnomAD-4.0.0 1.59089E-06 None None None None N None 5.65291E-05 0 None 0 0 None 0 0 0 0 0
I/T 35188 Ig-164 60 rs764963502 0.9389 -2.724 0.999 D 0.838 0.853 0.866247393669 gnomAD-2.1.1 4.01E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
I/T 35188 Ig-164 60 rs764963502 0.9389 -2.724 0.999 D 0.838 0.853 0.866247393669 gnomAD-4.0.0 3.18176E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.86541E-05 0
I/M 35346 Ig-165 61 rs1688672739 0.2274 None 0.999 D 0.678 0.563 0.713815690768 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
I/M 35346 Ig-165 61 rs1688672739 0.2274 None 0.999 D 0.678 0.563 0.713815690768 gnomAD-4.0.0 6.5703E-06 None None None None N None 2.41266E-05 0 None 0 0 None 0 0 0 0 0
I/F 35664 Ig-167 58 rs781108499 0.5243 -1.529 1.0 N 0.802 0.724 0.681819901562 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 1E-04 0 None 0 None 0 0 0
I/F 35664 Ig-167 58 rs781108499 0.5243 -1.529 1.0 N 0.802 0.724 0.681819901562 gnomAD-4.0.0 6.84571E-07 None None None None N None 0 0 None 3.83259E-05 0 None 0 0 0 0 0
I/S 35664 Ig-167 58 rs1060500501 0.9605 -3.224 1.0 N 0.856 0.79 0.917674651404 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
I/S 35664 Ig-167 58 rs1060500501 0.9605 -3.224 1.0 N 0.856 0.79 0.917674651404 gnomAD-4.0.0 6.84664E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99951E-07 0 0
I/T 35664 Ig-167 58 None 0.9627 None 1.0 N 0.812 0.724 0.81977039619 gnomAD-4.0.0 6.84664E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65788E-05
I/V 35664 Ig-167 58 rs781108499 0.1382 -1.161 0.993 N 0.397 0.466 0.763021800361 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
I/V 35664 Ig-167 58 rs781108499 0.1382 -1.161 0.993 N 0.397 0.466 0.763021800361 gnomAD-4.0.0 1.71143E-05 None None None None N None 0 0 None 0 5.04236E-05 None 0 0 1.79977E-05 0 4.97315E-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.