Structural position:

  • Domain Type: Fn3
  • Aligned Position: 112
  • 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
N/S 15736 Fn3-1 80 rs2057709379 0.9648 None 0.999 D 0.601 0.55 0.37762505 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
N/S 15736 Fn3-1 80 rs2057709379 0.9648 None 0.999 D 0.601 0.55 0.37762505 gnomAD-4.0.0 6.58129E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47249E-05 0 0
N/Y 15837 Fn3-2 80 rs765708429 0.9956 -0.834 0.999 D 0.798 0.652 0.7640839 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
N/Y 15837 Fn3-2 80 rs765708429 0.9956 -0.834 0.999 D 0.798 0.652 0.7640839 gnomAD-4.0.0 1.59377E-06 None None None None N None 0 0 None 0 2.78149E-05 None 0 0 0 0 0
N/K 16133 Fn3-4 79 rs1060500470 0.9986 None 1.0 D 0.763 0.67 0.25729233 Rees (2021) None MmD comp het with R5308* None None N Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro None None None None None None None None None None None
N/S 16233 Fn3-5 79 None 0.7793 None 0.999 D 0.583 0.551 0.3321335 gnomAD-4.0.0 1.39151E-06 None None None None N None 0 0 None 0 0 None 0 0 1.82057E-06 0 0
N/D 16429 Fn3-6 79 None 0.9968 None 0.999 D 0.623 0.663 0.48840794 gnomAD-4.0.0 1.59392E-06 None None None None N None 0 0 None 0 0 None 1.88445E-05 0 0 0 0
N/K 16429 Fn3-6 79 rs763809932 0.9996 None 1.0 D 0.763 0.556 0.3321335 Liu (2020) None AVB het None None N WES prioritisation in single AVB family; co-segregates with disease phenotype (n = 5, 5 affected (7 total)) None None None None None None None None None None None
N/D 16629 Fn3-8 79 None 0.9856 None 0.999 D 0.603 0.582 0.3724461 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
N/I 16629 Fn3-8 79 rs761960063 0.9885 0.323 1.0 D 0.792 0.652 0.69164157 gnomAD-4.0.0 1.59398E-06 None None None None N None 0 0 None 0 0 None 1.88374E-05 0 0 0 0
N/T 16629 Fn3-8 79 None 0.8797 None 0.999 D 0.711 0.581 0.3967941 gnomAD-4.0.0 3.18795E-06 None None None None N None 0 0 None 0 5.58878E-05 None 0 0 0 0 0
N/S 16932 Fn3-11 81 rs779440152 0.6278 -1.552 0.999 N 0.584 0.498 0.24453904 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
N/S 16932 Fn3-11 81 rs779440152 0.6278 -1.552 0.999 N 0.584 0.498 0.24453904 gnomAD-4.0.0 1.17808E-05 None None None None N None 0 0 None 0 0 None 0 0 1.52632E-05 1.09806E-05 0
N/K 17125 Fn3-12 79 rs1463917999 0.999 -0.643 1.0 D 0.756 0.606 0.34122694 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 0 0 0
N/K 17125 Fn3-12 79 rs1463917999 0.999 -0.643 1.0 D 0.756 0.606 0.34122694 gnomAD-4.0.0 1.59286E-06 None None None None N None 0 0 None 0 2.78118E-05 None 0 0 0 0 0
N/S 17125 Fn3-12 79 None 0.7679 None 0.999 N 0.586 0.601 0.26684397 gnomAD-4.0.0 1.59285E-06 None None None None N None 0 0 None 0 0 None 1.88267E-05 0 0 0 0
N/D 17226 Fn3-13 80 rs780947951 0.9946 -2.53 0.999 D 0.617 0.672 0.4330476 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
N/D 17226 Fn3-13 80 rs780947951 0.9946 -2.53 0.999 D 0.617 0.672 0.4330476 gnomAD-4.0.0 1.59391E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.4348E-05 0
N/K 17449 Fn3-14 81 rs1165942763 0.9992 -0.72 0.958 D 0.687 0.407 0.24621569 gnomAD-2.1.1 1.62E-05 None None None None N None 0 1.16741E-04 None 0 0 None 0 None 0 0 0
N/K 17449 Fn3-14 81 rs1165942763 0.9992 -0.72 0.958 D 0.687 0.407 0.24621569 gnomAD-3.1.2 1.32E-05 None None None None N None 0 1.31199E-04 0 0 0 None 0 0 0 0 0
N/K 17449 Fn3-14 81 rs1165942763 0.9992 -0.72 0.958 D 0.687 0.407 0.24621569 gnomAD-4.0.0 7.70394E-06 None None None None N None 0 1.0194E-04 None 0 0 None 0 0 0 0 0
N/I 17548 Fn3-15 79 None 0.9961 None 1.0 D 0.789 0.619 0.84577924 gnomAD-4.0.0 1.60701E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88635E-06 0 0
N/K 17548 Fn3-15 79 rs1490235327 0.999 -0.308 1.0 D 0.754 0.585 0.26454708 gnomAD-2.1.1 4.12E-06 None None None None N None 0 0 None 0 0 None 0 None 0 9.08E-06 0
N/K 17548 Fn3-15 79 rs1490235327 0.999 -0.308 1.0 D 0.754 0.585 0.26454708 gnomAD-4.0.0 1.60722E-06 None None None None N None 0 0 None 0 0 None 0 0 2.88742E-06 0 0
N/S 17648 Fn3-16 80 rs752142832 0.6553 -0.782 0.999 N 0.589 0.512 0.224532 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
N/S 17648 Fn3-16 80 rs752142832 0.6553 -0.782 0.999 N 0.589 0.512 0.224532 gnomAD-4.0.0 6.16042E-06 None None None None N None 0 2.23704E-05 None 0 0 None 0 0 7.19802E-06 0 0
N/K 17841 Fn3-17 78 None 0.9996 None 1.0 D 0.782 0.721 0.3402734 gnomAD-4.0.0 6.8483E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.65837E-05
N/D 17941 Fn3-18 80 None 0.9726 None 0.999 N 0.585 0.667 0.3331543 gnomAD-4.0.0 1.59558E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03343E-05
N/I 17941 Fn3-18 80 rs75257026 0.9941 -0.003 1.0 D 0.8 0.713 0.7660198 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66834E-04
N/I 17941 Fn3-18 80 rs75257026 0.9941 -0.003 1.0 D 0.8 0.713 0.7660198 gnomAD-4.0.0 1.5956E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03306E-05
N/K 17941 Fn3-18 80 None 0.9977 None 1.0 D 0.727 0.49 0.20294946 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
N/S 17941 Fn3-18 80 None 0.6347 None 0.999 N 0.567 0.554 0.26501092 gnomAD-4.0.0 1.5956E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86651E-06 0 0
N/H 18353 Fn3-21 82 None 0.9308 None 1.0 D 0.769 0.623 0.35813442 gnomAD-4.0.0 1.59317E-06 None None None None N None 5.67215E-05 0 None 0 0 None 0 0 0 0 0
N/S 18353 Fn3-21 82 rs747601378 0.4424 -0.919 0.999 N 0.611 0.516 0.27648297 gnomAD-2.1.1 2.5E-05 None None None None N None 8.28E-05 8.51E-05 None 0 0 None 0 None 0 7.83E-06 1.40805E-04
N/S 18353 Fn3-21 82 rs747601378 0.4424 -0.919 0.999 N 0.611 0.516 0.27648297 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
N/S 18353 Fn3-21 82 rs747601378 0.4424 -0.919 0.999 N 0.611 0.516 0.27648297 gnomAD-4.0.0 8.68034E-06 None None None None N None 4.00716E-05 3.3389E-05 None 0 2.23644E-05 None 0 0 6.78347E-06 0 0
N/H 18663 Fn3-23 85 rs1425177371 0.9826 -0.818 1.0 D 0.764 0.764 0.3917754 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.65E-05 0 0
N/H 18663 Fn3-23 85 rs1425177371 0.9826 -0.818 1.0 D 0.764 0.764 0.3917754 gnomAD-4.0.0 1.59298E-06 None None None None N None 0 0 None 0 0 None 1.88281E-05 0 0 0 0
N/S 18663 Fn3-23 85 rs368350844 0.8114 -0.786 0.999 N 0.599 0.543 None gnomAD-2.1.1 2.86E-05 None None None None N None 0 8.49E-05 None 0 0 None 0 None 0 3.92E-05 0
N/S 18663 Fn3-23 85 rs368350844 0.8114 -0.786 0.999 N 0.599 0.543 None gnomAD-3.1.2 3.29E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 5.88E-05 0 0
N/S 18663 Fn3-23 85 rs368350844 0.8114 -0.786 0.999 N 0.599 0.543 None gnomAD-4.0.0 5.26996E-05 None None None None N None 1.33572E-05 3.33645E-05 None 0 2.23374E-05 None 1.56211E-05 0 6.52923E-05 0 4.80661E-05
N/D 18863 Fn3-24 80 rs2052631045 0.991 None 0.999 D 0.613 0.765 0.45340198 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
N/S 18863 Fn3-24 80 None 0.9481 None 0.999 N 0.597 0.608 0.32741952 gnomAD-4.0.0 1.86331E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.98035E-05 0
N/K 18967 Fn3-25 84 rs1224594831 0.9994 -0.426 1.0 D 0.736 0.611 0.376216 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
N/K 18967 Fn3-25 84 rs1224594831 0.9994 -0.426 1.0 D 0.736 0.611 0.376216 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86002E-06 0 0
N/S 18967 Fn3-25 84 rs727503594 0.8811 -0.992 0.999 N 0.572 0.526 0.37586108 gnomAD-2.1.1 7.15E-06 None None None None N None 4.14E-05 0 None 0 0 None 3.27E-05 None 0 0 0
N/S 18967 Fn3-25 84 rs727503594 0.8811 -0.992 0.999 N 0.572 0.526 0.37586108 gnomAD-3.1.2 1.97E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.47E-05 0 0
N/S 18967 Fn3-25 84 rs727503594 0.8811 -0.992 0.999 N 0.572 0.526 0.37586108 gnomAD-4.0.0 4.33898E-06 None None None None N None 2.67094E-05 0 None 0 0 None 0 0 2.54338E-06 1.09806E-05 1.60143E-05
N/K 19067 Fn3-26 80 rs762173832 0.9992 -0.276 1.0 D 0.751 0.592 0.2484179 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 1.67898E-04 None 0 None 0 0 0
N/K 19067 Fn3-26 80 rs762173832 0.9992 -0.276 1.0 D 0.751 0.592 0.2484179 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93949E-04 None 0 0 0 0 0
N/K 19067 Fn3-26 80 rs762173832 0.9992 -0.276 1.0 D 0.751 0.592 0.2484179 gnomAD-4.0.0 1.41005E-05 None None None None N None 0 0 None 0 2.67471E-04 None 0 0 0 0 0
N/S 19363 Fn3-28 80 rs777181856 0.8833 -1.473 0.999 N 0.588 0.64 0.37902033 gnomAD-2.1.1 8.19E-06 None None None None N None 0 0 None 0 0 None 6.88E-05 None 0 0 0
N/S 19363 Fn3-28 80 rs777181856 0.8833 -1.473 0.999 N 0.588 0.64 0.37902033 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.93874E-04 None 0 0 0 0 0
N/S 19363 Fn3-28 80 rs777181856 0.8833 -1.473 0.999 N 0.588 0.64 0.37902033 gnomAD-4.0.0 7.46796E-06 None None None None N None 0 0 None 0 2.24004E-05 None 0 0 0 1.11339E-04 1.60844E-05
N/K 19558 Fn3-29 80 rs1455635388 0.9992 None 1.0 D 0.763 0.563 0.2849296 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
N/K 19558 Fn3-29 80 rs1455635388 0.9992 None 1.0 D 0.763 0.563 0.2849296 gnomAD-4.0.0 6.57445E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47054E-05 0 0
N/S 19558 Fn3-29 80 rs369224233 0.9251 -1.396 0.999 N 0.601 0.589 None gnomAD-2.1.1 7.18E-06 None None None None N None 8.27E-05 0 None 0 0 None 0 None 0 0 0
N/S 19558 Fn3-29 80 rs369224233 0.9251 -1.396 0.999 N 0.601 0.589 None gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
N/S 19558 Fn3-29 80 rs369224233 0.9251 -1.396 0.999 N 0.601 0.589 None gnomAD-4.0.0 3.84724E-06 None None None None N None 5.07408E-05 0 None 0 0 None 0 0 0 0 0
N/S 19658 Fn3-30 80 rs767889522 0.9375 -1.143 0.999 D 0.615 0.547 0.39208347 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
N/S 19658 Fn3-30 80 rs767889522 0.9375 -1.143 0.999 D 0.615 0.547 0.39208347 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
N/S 19658 Fn3-30 80 rs767889522 0.9375 -1.143 0.999 D 0.615 0.547 0.39208347 gnomAD-4.0.0 9.91725E-06 None None None None N None 1.33501E-05 0 None 0 0 None 0 0 1.27159E-05 0 0
N/S 19761 Fn3-31 82 rs563969986 0.6053 -1.102 0.999 N 0.612 0.561 None 1000 genomes 7.98722E-04 None None None None N None 0 0 None None 4E-03 0 None None None 0 None
N/S 19761 Fn3-31 82 rs563969986 0.6053 -1.102 0.999 N 0.612 0.561 None gnomAD-2.1.1 3.85852E-04 None None None None N None 0 0 None 0 5.50525E-03 None 0 None 0 0 1.40449E-04
N/S 19761 Fn3-31 82 rs563969986 0.6053 -1.102 0.999 N 0.612 0.561 None gnomAD-3.1.2 2.56366E-04 None None None None N None 0 5.24246E-04 0 0 5.62452E-03 None 0 0 0 0 9.56023E-04
N/S 19761 Fn3-31 82 rs563969986 0.6053 -1.102 0.999 N 0.612 0.561 None gnomAD-4.0.0 3.04919E-04 None None None None N None 0 1.33373E-04 None 0 1.0226E-02 None 0 0 4.23868E-06 1.09803E-05 3.20174E-04
N/I 19955 Fn3-32 79 None 0.9984 None 0.999 D 0.802 0.575 0.79307896 Yu (2019) None Other comp het with L30639P (in trans), c.44282-2A>G (in cis) None None N Genetic analysis of single patient with congenital titinopathy; comp het with L30639P; significant decrease in full-length titin protein in biopsy samples compared to WT None None None None None None None None None None None
N/D 20054 Fn3-33 78 rs1244081106 0.989 -2.572 0.999 D 0.629 0.71 0.41441074 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
N/D 20054 Fn3-33 78 rs1244081106 0.989 -2.572 0.999 D 0.629 0.71 0.41441074 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
N/D 20054 Fn3-33 78 rs1244081106 0.989 -2.572 0.999 D 0.629 0.71 0.41441074 gnomAD-4.0.0 6.57557E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47106E-05 0 0
N/S 20054 Fn3-33 78 None 0.9578 None 0.999 N 0.611 0.579 0.33640042 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
N/D 20646 Fn3-37 78 rs755455461 0.995 -2.595 0.999 D 0.619 0.685 0.46657118 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
N/D 20646 Fn3-37 78 rs755455461 0.995 -2.595 0.999 D 0.619 0.685 0.46657118 gnomAD-4.0.0 4.77525E-06 None None None None N None 0 0 None 0 0 None 0 0 8.57805E-06 0 0
N/K 20646 Fn3-37 78 None 0.9995 None 1.0 D 0.763 0.617 0.36512005 gnomAD-4.0.0 6.84303E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99582E-07 0 0
N/K 20747 Fn3-38 80 rs2049763633 0.9991 None 0.958 D 0.689 0.391 0.23748901 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
N/K 20747 Fn3-38 80 rs2049763633 0.9991 None 0.958 D 0.689 0.391 0.23748901 gnomAD-4.0.0 6.57929E-06 None None None None N None 0 6.5591E-05 None 0 0 None 0 0 0 0 0
N/T 20747 Fn3-38 80 rs1211138085 0.9888 -0.23 0.958 N 0.669 0.426 0.39147067 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 2.87853E-04 0 0
N/T 20747 Fn3-38 80 rs1211138085 0.9888 -0.23 0.958 N 0.669 0.426 0.39147067 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 9.41E-05 0 0 0 0
N/T 20747 Fn3-38 80 rs1211138085 0.9888 -0.23 0.958 N 0.669 0.426 0.39147067 gnomAD-4.0.0 6.57462E-06 None None None None N None 0 0 None 0 0 None 9.41442E-05 0 0 0 0
N/Y 20747 Fn3-38 80 rs2049764957 0.9962 None 0.998 D 0.789 0.49 0.48917416 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
N/Y 20747 Fn3-38 80 rs2049764957 0.9962 None 0.998 D 0.789 0.49 0.48917416 gnomAD-4.0.0 6.57661E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47119E-05 0 0
N/H 20942 Fn3-39 79 None 0.9952 None 1.0 D 0.787 0.6 0.5242186 gnomAD-4.0.0 1.36897E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79926E-06 0 0
N/K 20942 Fn3-39 79 rs1197168679 0.9993 -0.34 1.0 D 0.762 0.641 0.34401774 gnomAD-2.1.1 8.07E-06 None None None None N None 0 0 None 0 0 None 0 None 9.32E-05 0 0
N/K 20942 Fn3-39 79 rs1197168679 0.9993 -0.34 1.0 D 0.762 0.641 0.34401774 gnomAD-4.0.0 1.59275E-06 None None None None N None 0 0 None 0 0 None 1.8853E-05 0 0 0 0
N/S 20942 Fn3-39 79 rs769163040 0.9539 -0.967 0.999 N 0.595 0.521 0.35792917 gnomAD-2.1.1 4.03E-05 None None None None N None 0 0 None 0 0 None 3.26968E-04 None 0 0 0
N/S 20942 Fn3-39 79 rs769163040 0.9539 -0.967 0.999 N 0.595 0.521 0.35792917 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.13907E-04 0
N/S 20942 Fn3-39 79 rs769163040 0.9539 -0.967 0.999 N 0.595 0.521 0.35792917 gnomAD-4.0.0 1.7359E-05 None None None None N None 1.33529E-05 0 None 0 0 None 0 0 0 2.96469E-04 0
N/S 21042 Fn3-40 80 None 0.9215 None 0.999 N 0.602 0.553 0.37299386 gnomAD-4.0.0 3.45328E-06 None None None None N None 0 0 None 0 0 None 0 0 6.1201E-06 0 0
N/D 21638 Fn3-44 80 rs757843701 0.9932 -2.81 0.999 D 0.628 0.685 0.46833643 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
N/D 21638 Fn3-44 80 rs757843701 0.9932 -2.81 0.999 D 0.628 0.685 0.46833643 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
N/D 21638 Fn3-44 80 rs757843701 0.9932 -2.81 0.999 D 0.628 0.685 0.46833643 gnomAD-4.0.0 4.95873E-06 None None None None N None 0 0 None 0 0 None 0 0 6.78211E-06 0 0
N/K 21638 Fn3-44 80 None 0.9994 None 1.0 D 0.759 0.599 0.22992472 gnomAD-4.0.0 1.59192E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02608E-05
T/N 21838 Fn3-46 82 rs1458673199 0.2248 -1.385 1.0 N 0.827 0.379 0.31411916 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.67448E-04
T/N 21838 Fn3-46 82 rs1458673199 0.2248 -1.385 1.0 N 0.827 0.379 0.31411916 gnomAD-4.0.0 1.595E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.03232E-05
N/H 22034 Fn3-47 79 rs1347058381 0.9976 -1.157 1.0 D 0.775 0.74 0.50124735 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14732E-04 0 None 0 0 None 0 None 0 0 0
N/H 22034 Fn3-47 79 rs1347058381 0.9976 -1.157 1.0 D 0.775 0.74 0.50124735 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
N/H 22034 Fn3-47 79 rs1347058381 0.9976 -1.157 1.0 D 0.775 0.74 0.50124735 gnomAD-4.0.0 6.57575E-06 None None None None N None 2.41313E-05 0 None 0 0 None 0 0 0 0 0
N/I 22034 Fn3-47 79 rs746824795 0.9992 -0.065 1.0 D 0.789 0.748 0.8901123 gnomAD-2.1.1 4.06E-06 None None None None N None 0 0 None 0 5.64E-05 None 0 None 0 0 0
N/S 22034 Fn3-47 79 None 0.9809 None 0.999 N 0.599 0.664 0.36016384 gnomAD-4.0.0 2.05802E-06 None None None None N None 0 0 None 0 0 None 0 0 9.01214E-07 1.16689E-05 1.66163E-05
N/K 22134 Fn3-48 80 None 0.9988 None 1.0 D 0.739 0.632 0.26775503 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
N/S 22236 Fn3-49 81 rs771424887 0.8068 -1.556 0.999 N 0.6 0.639 0.30145535 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
N/S 22236 Fn3-49 81 rs771424887 0.8068 -1.556 0.999 N 0.6 0.639 0.30145535 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
N/S 22236 Fn3-49 81 rs771424887 0.8068 -1.556 0.999 N 0.6 0.639 0.30145535 gnomAD-4.0.0 6.57523E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47093E-05 0 0
N/S 22722 Fn3-52 80 rs200493270 0.9314 -1.35 0.999 N 0.601 0.535 None gnomAD-2.1.1 8.58E-05 None None None None N None 0 0 None 0 0 None 0 None 0 1.87829E-04 0
N/S 22722 Fn3-52 80 rs200493270 0.9314 -1.35 0.999 N 0.601 0.535 None gnomAD-3.1.2 9.21E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 1.91255E-04 0 0
N/S 22722 Fn3-52 80 rs200493270 0.9314 -1.35 0.999 N 0.601 0.535 None gnomAD-4.0.0 1.17777E-04 None None None None N None 0 1.66711E-05 None 0 0 None 0 0 1.57705E-04 0 4.80369E-05
N/D 22822 Fn3-53 80 rs1002696442 0.9958 None 0.999 D 0.641 0.682 0.44661316 gnomAD-4.0.0 1.59247E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86031E-06 0 0
N/K 22920 Fn3-54 80 rs1438744287 0.9986 0.303 1.0 D 0.761 0.565 0.17723896 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
N/K 22920 Fn3-54 80 rs1438744287 0.9986 0.303 1.0 D 0.761 0.565 0.17723896 gnomAD-4.0.0 6.84451E-07 None None None None N None 0 0 None 3.82966E-05 0 None 0 0 0 0 0
N/S 22920 Fn3-54 80 None 0.9339 None 0.999 N 0.612 0.581 0.29562342 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
N/H 23118 Fn3-55 79 None 0.9806 None 1.0 D 0.775 0.704 0.45470268 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
N/S 23320 Fn3-57 81 rs756468956 0.513 -1.288 0.999 N 0.591 0.605 None 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
N/S 23320 Fn3-57 81 rs756468956 0.513 -1.288 0.999 N 0.591 0.605 None gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
N/S 23320 Fn3-57 81 rs756468956 0.513 -1.288 0.999 N 0.591 0.605 None gnomAD-4.0.0 2.47986E-06 None None None None N None 5.34045E-05 0 None 0 0 None 0 0 0 0 0
N/S 23513 Fn3-58 79 rs1553613561 0.9815 None 0.999 D 0.589 0.533 0.38342384 gnomAD-4.0.0 2.05278E-06 None None None None N None 0 0 None 0 0 None 0 0 2.69865E-06 0 0
N/K 23805 Fn3-60 80 None 0.9994 None 0.977 D 0.695 0.514 0.14641464 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
N/T 24003 Fn3-62 80 None 0.8428 None 0.999 N 0.711 0.611 0.37425578 gnomAD-4.0.0 1.59174E-06 None None None None N None 0 0 None 0 0 None 0 0 2.8593E-06 0 0
N/S 24301 Fn3-64 80 rs1380734322 0.9495 None 0.999 N 0.585 0.555 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
N/S 24301 Fn3-64 80 rs1380734322 0.9495 None 0.999 N 0.585 0.555 None gnomAD-4.0.0 4.35736E-06 None None None None N None 0 0 None 0 0 None 0 0 5.95573E-06 0 0
N/T 24301 Fn3-64 80 None 0.9743 None 0.999 D 0.71 0.612 0.49741757 gnomAD-4.0.0 6.87595E-07 None None None None N None 0 0 None 0 0 None 0 0 9.03081E-07 0 0
N/S 24693 Fn3-67 78 rs372479952 0.9672 -0.974 1.0 N 0.613 0.524 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66389E-04
N/Y 24693 Fn3-67 78 rs770797051 0.997 -0.354 1.0 D 0.855 0.631 0.7783698 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
N/Y 24693 Fn3-67 78 rs770797051 0.997 -0.354 1.0 D 0.855 0.631 0.7783698 gnomAD-4.0.0 1.36883E-06 None None None None N None 0 4.47427E-05 None 0 0 None 0 0 0 0 0
N/S 24887 Fn3-68 80 None 0.9717 None 0.999 N 0.568 0.603 0.32688153 gnomAD-4.0.0 1.59212E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85951E-06 0 0
N/Y 25085 Fn3-70 80 None 0.9896 None 0.998 D 0.795 0.519 0.6759169 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
N/D 25679 Fn3-74 79 rs770512378 0.9917 -2.847 0.998 D 0.628 0.67 0.4388064 gnomAD-4.0.0 1.36873E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.3197E-05 0
N/H 25679 Fn3-74 79 rs770512378 0.9947 -1.192 1.0 D 0.791 0.728 None gnomAD-2.1.1 2.14E-05 None None None None N None 0 2.83E-05 None 0 0 None 3.27E-05 None 0 3.13E-05 0
N/H 25679 Fn3-74 79 rs770512378 0.9947 -1.192 1.0 D 0.791 0.728 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
N/H 25679 Fn3-74 79 rs770512378 0.9947 -1.192 1.0 D 0.791 0.728 None gnomAD-4.0.0 1.73555E-05 None None None None N None 0 1.66756E-05 None 0 0 None 0 4.93746E-04 1.69553E-05 2.19655E-05 3.20328E-05
N/K 25679 Fn3-74 79 None 0.9993 None 1.0 D 0.777 0.585 0.21433856 gnomAD-4.0.0 6.84379E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99667E-07 0 0
N/S 25679 Fn3-74 79 rs749255859 0.9687 -1.303 0.999 D 0.611 0.622 0.39988926 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
N/S 25679 Fn3-74 79 rs749255859 0.9687 -1.303 0.999 D 0.611 0.622 0.39988926 gnomAD-4.0.0 1.59208E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43353E-05 0
N/S 25969 Fn3-76 80 rs1307235516 0.9468 -1.481 0.999 D 0.587 0.652 0.35418397 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
N/S 25969 Fn3-76 80 rs1307235516 0.9468 -1.481 0.999 D 0.587 0.652 0.35418397 gnomAD-4.0.0 3.18339E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85941E-06 1.43279E-05 0
N/S 26069 Fn3-77 80 rs751057466 0.9701 -1.126 0.999 N 0.597 0.603 0.33290273 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.65837E-04
N/S 26069 Fn3-77 80 rs751057466 0.9701 -1.126 0.999 N 0.597 0.603 0.33290273 gnomAD-4.0.0 1.59172E-06 None None None None N None 0 0 None 0 0 None 0 2.41313E-04 0 0 0
N/I 26567 Fn3-81 81 None 0.9923 None 1.0 D 0.832 0.728 0.8218466 gnomAD-4.0.0 6.84343E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15939E-05 0
N/S 26567 Fn3-81 81 rs183844833 0.6951 -1.408 0.999 N 0.63 0.527 None 1000 genomes 2.99521E-03 None None None None N None 8E-04 0 None None 1.29E-02 0 None None None 1E-03 None
N/S 26567 Fn3-81 81 rs183844833 0.6951 -1.408 0.999 N 0.63 0.527 None gnomAD-2.1.1 1.33998E-03 None None None None N None 6.61266E-04 0 None 0 1.75367E-02 None 4.57576E-04 None 0 7.82E-06 2.81136E-04
N/S 26567 Fn3-81 81 rs183844833 0.6951 -1.408 0.999 N 0.63 0.527 None gnomAD-3.1.2 6.83725E-04 None None None None N None 6.75513E-04 6.56E-05 0 0 1.39373E-02 None 0 0 0 6.21118E-04 0
N/S 26567 Fn3-81 81 rs183844833 0.6951 -1.408 0.999 N 0.63 0.527 None gnomAD-4.0.0 3.40258E-04 None None None None N None 4.66443E-04 1.66689E-05 None 0 9.03171E-03 None 0 0 7.6292E-06 3.51347E-04 1.07258E-03
N/T 26761 Fn3-82 79 rs1187490566 0.9824 -0.586 0.999 N 0.733 0.659 0.45855433 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
N/T 26761 Fn3-82 79 rs1187490566 0.9824 -0.586 0.999 N 0.733 0.659 0.45855433 gnomAD-4.0.0 1.59161E-06 None None None None N None 5.66059E-05 0 None 0 0 None 0 0 0 0 0
N/D 26857 Fn3-83 78 None 0.9813 None 0.999 N 0.611 0.692 0.4234801 gnomAD-4.0.0 1.59166E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43287E-05 0
N/K 26857 Fn3-83 78 None 0.997 None 1.0 D 0.77 0.551 0.21042928 gnomAD-4.0.0 6.84302E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99598E-07 0 0
N/K 27051 Fn3-84 80 None 0.9993 None 1.0 D 0.745 0.643 0.37443465 gnomAD-4.0.0 6.8512E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.16501E-05 0
N/S 27051 Fn3-84 80 rs1235989659 0.9491 None 0.999 N 0.583 0.714 0.34898335 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
N/S 27051 Fn3-84 80 rs1235989659 0.9491 None 0.999 N 0.583 0.714 0.34898335 gnomAD-4.0.0 1.86095E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54428E-06 0 0
N/K 27650 Fn3-89 81 rs750669364 0.9983 -0.356 0.919 N 0.605 0.321 0.23057862 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
N/K 27650 Fn3-89 81 rs750669364 0.9983 -0.356 0.919 N 0.605 0.321 0.23057862 gnomAD-4.0.0 1.43224E-05 None None None None N None 0 0 None 0 0 None 1.88232E-05 0 1.71526E-05 0 6.04924E-05
N/H 27844 Fn3-90 79 None 0.9839 None 1.0 D 0.781 0.733 0.6059305 gnomAD-4.0.0 1.59905E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86607E-06 0 0
N/K 27844 Fn3-90 79 None 0.9989 None 1.0 D 0.758 0.628 0.3639445 gnomAD-4.0.0 3.19828E-06 None None None None N None 0 0 None 0 0 None 0 0 5.73256E-06 0 0
N/S 27844 Fn3-90 79 rs754569815 0.84 -0.798 0.999 D 0.594 0.616 0.42407393 gnomAD-2.1.1 4.07E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.94E-06 0
N/S 27844 Fn3-90 79 rs754569815 0.84 -0.798 0.999 D 0.594 0.616 0.42407393 gnomAD-4.0.0 4.79945E-06 None None None None N None 0 0 None 0 0 None 0 0 6.30178E-06 0 0
N/D 27940 Fn3-91 78 None 0.983 None 0.999 D 0.618 0.567 0.3928555 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
N/S 28133 Fn3-92 79 rs727505053 0.9259 -1.217 0.999 D 0.575 0.538 0.37970752 gnomAD-2.1.1 7.17E-06 None None None None N None 0 0 None 0 1.03114E-04 None 0 None 0 0 0
N/S 28133 Fn3-92 79 rs727505053 0.9259 -1.217 0.999 D 0.575 0.538 0.37970752 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.78469E-04
N/S 28133 Fn3-92 79 rs727505053 0.9259 -1.217 0.999 D 0.575 0.538 0.37970752 gnomAD-4.0.0 9.92366E-06 None None None None N None 1.3369E-05 0 None 0 8.93376E-05 None 0 1.64745E-04 0 0 1.60262E-04
N/S 28729 Fn3-97 79 rs1703025837 0.4461 None 0.999 N 0.593 0.514 0.28337175 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 1.92976E-04 None 0 0 1.47E-05 0 0
N/S 28729 Fn3-97 79 rs1703025837 0.4461 None 0.999 N 0.593 0.514 0.28337175 gnomAD-4.0.0 8.05601E-06 None None None None N None 0 0 None 0 2.45284E-04 None 0 0 8.4759E-07 0 1.60113E-05
N/K 29216 Fn3-100 80 None 0.9992 None 1.0 D 0.767 0.561 0.3507466 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
N/S 29316 Fn3-101 80 rs2154155539 0.9575 None 0.999 N 0.58 0.525 0.3326469 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
N/S 29316 Fn3-101 80 rs2154155539 0.9575 None 0.999 N 0.58 0.525 0.3326469 gnomAD-4.0.0 6.56349E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46972E-05 0 0
N/K 29612 Fn3-103 80 rs767347782 0.9983 -0.151 1.0 D 0.71 0.653 0.32082283 gnomAD-4.0.0 3.05098E-05 None None None None N None 5.71755E-05 4.70168E-05 None 0 8.47218E-05 None 0 0 2.87497E-05 2.89687E-05 3.0447E-05
N/H 30011 Fn3-106 79 rs1553540660 0.9949 None 1.0 D 0.787 0.655 0.4365633 gnomAD-4.0.0 2.40064E-06 None None None None N None 1.26695E-04 0 None 0 0 None 0 0 0 0 0
N/D 30303 Fn3-108 80 rs749521838 0.9815 -2.659 0.999 D 0.631 0.713 0.39544135 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
N/D 30303 Fn3-108 80 rs749521838 0.9815 -2.659 0.999 D 0.631 0.713 0.39544135 gnomAD-4.0.0 1.59587E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43443E-05 0
N/I 30303 Fn3-108 80 None 0.9963 None 1.0 D 0.843 0.776 0.7956772 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
N/K 30403 Fn3-109 80 rs760102226 0.9984 -0.119 1.0 D 0.755 0.615 0.25729233 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
N/K 30403 Fn3-109 80 rs760102226 0.9984 -0.119 1.0 D 0.755 0.615 0.25729233 gnomAD-4.0.0 1.59536E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86696E-06 0 0
N/D 30900 Fn3-113 80 rs1452525804 0.9677 -2.133 0.999 N 0.59 0.594 0.26454708 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 4.64E-05 0 0
N/D 30900 Fn3-113 80 rs1452525804 0.9677 -2.133 0.999 N 0.59 0.594 0.26454708 gnomAD-4.0.0 1.36836E-06 None None None None N None 0 0 None 0 0 None 1.87308E-05 0 8.99433E-07 0 0
N/S 30900 Fn3-113 80 rs186234393 0.4032 -1.248 0.999 N 0.571 0.496 None 1000 genomes 7.98722E-04 None None None None N None 0 0 None None 4E-03 0 None None None 0 None
N/S 30900 Fn3-113 80 rs186234393 0.4032 -1.248 0.999 N 0.571 0.496 None gnomAD-2.1.1 3.31873E-04 None None None None N None 0 8.48E-05 None 0 4.40754E-03 None 0 None 0 0 5.6164E-04
N/S 30900 Fn3-113 80 rs186234393 0.4032 -1.248 0.999 N 0.571 0.496 None gnomAD-3.1.2 1.64271E-04 None None None None N None 0 6.55E-05 0 0 4.24547E-03 None 0 0 0 0 9.5511E-04
N/S 30900 Fn3-113 80 rs186234393 0.4032 -1.248 0.999 N 0.571 0.496 None gnomAD-4.0.0 9.72786E-05 None None None None N None 1.33223E-05 4.9985E-05 None 0 2.22896E-03 None 0 0 5.08551E-06 2.19568E-05 7.20184E-04
N/K 31094 Fn3-114 79 rs1698030124 0.9988 None 1.0 D 0.764 0.555 0.23503894 gnomAD-4.0.0 1.20047E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31267E-06 0 0
N/K 31190 Fn3-115 78 rs746309005 0.9989 -0.412 1.0 D 0.767 0.546 0.19193122 gnomAD-2.1.1 1.5265E-04 None None None None N None 0 9.27321E-04 None 0 0 None 0 None 0 8.87E-06 8.27541E-04
N/K 31190 Fn3-115 78 rs746309005 0.9989 -0.412 1.0 D 0.767 0.546 0.19193122 gnomAD-3.1.2 1.51173E-04 None None None None N None 0 1.24525E-03 0 0 0 None 0 0 5.88E-05 0 0
N/K 31190 Fn3-115 78 rs746309005 0.9989 -0.412 1.0 D 0.767 0.546 0.19193122 gnomAD-4.0.0 4.58556E-05 None None None None N None 0 9.67053E-04 None 0 0 None 0 0 1.10185E-05 0 4.80277E-05
N/K 31387 Fn3-116 80 rs1252079185 0.9992 None 1.0 D 0.753 0.591 0.28872794 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 1.92604E-04 None 0 0 0 0 0
N/K 31588 Fn3-118 83 None 0.9993 None 1.0 D 0.753 0.471 0.29456156 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
N/K 31786 Fn3-119 79 rs869320743 0.9985 -0.663 1.0 D 0.737 0.842 0.32471237 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
N/K 31786 Fn3-119 79 rs869320743 0.9985 -0.663 1.0 D 0.737 0.842 0.32471237 Pfeffer (2013) Palmio (2019) None HMERF het None None N Genetic analysis of genes in 127 undiagnosed patients, likely MFM; co-segregates with condition (n = 2, 2 affected (total 7)) None None None None None None None None None None None
N/S 31786 Fn3-119 79 rs1696865626 0.7233 None 0.999 N 0.58 0.623 0.31795865 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
N/I 31887 Fn3-120 81 None 0.9957 None 1.0 D 0.791 0.671 0.854727 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
N/K 31989 Fn3-121 81 rs775762346 0.9963 None 1.0 N 0.738 0.475 0.055135567 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
N/K 31989 Fn3-121 81 rs775762346 0.9963 None 1.0 N 0.738 0.475 0.055135567 gnomAD-4.0.0 3.09866E-06 None None None None I None 0 0 None 0 0 None 0 0 4.23822E-06 0 0
N/S 32183 Fn3-122 79 None 0.9708 None 0.999 N 0.605 0.55 0.33516404 gnomAD-4.0.0 2.40071E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62508E-06 0 0
N/D 32281 Fn3-123 80 None 0.9764 None 0.999 N 0.631 0.626 0.40332898 gnomAD-4.0.0 1.59558E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86974E-06 0 0
N/I 32281 Fn3-123 80 None 0.9914 None 1.0 D 0.807 0.621 0.77115196 gnomAD-4.0.0 2.74021E-06 None None None None N None 0 0 None 0 0 None 0 0 3.60271E-06 0 0
N/S 32281 Fn3-123 80 rs1304722341 0.8483 -1.034 1.0 N 0.609 0.54 0.33640042 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
N/S 32281 Fn3-123 80 rs1304722341 0.8483 -1.034 1.0 N 0.609 0.54 0.33640042 gnomAD-4.0.0 6.85052E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.1599E-05 0
N/D 32478 Fn3-124 80 None 0.9906 None 0.999 D 0.563 0.658 0.31997085 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
N/K 32478 Fn3-124 80 rs786205295 0.9994 None 1.0 D 0.701 0.601 0.23441274 gnomAD-4.0.0 1.36908E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79938E-06 0 0
N/T 32478 Fn3-124 80 rs876658096 0.9642 -0.843 0.999 N 0.657 0.64 0.38158002 gnomAD-2.1.1 2.51E-05 None None None None N None 2.91278E-04 0 None 0 0 None 0 None 0 0 0
N/T 32478 Fn3-124 80 rs876658096 0.9642 -0.843 0.999 N 0.657 0.64 0.38158002 gnomAD-3.1.2 8.55E-05 None None None None N None 3.14025E-04 0 0 0 0 None 0 0 0 0 0
N/T 32478 Fn3-124 80 rs876658096 0.9642 -0.843 0.999 N 0.657 0.64 0.38158002 gnomAD-4.0.0 2.04601E-05 None None None None N None 4.1414E-04 0 None 0 0 None 0 0 0 0 3.2042E-05
N/K 32976 Fn3-128 81 rs768961283 0.9991 -0.035 1.0 D 0.761 0.587 0.22992472 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
N/K 32976 Fn3-128 81 rs768961283 0.9991 -0.035 1.0 D 0.761 0.587 0.22992472 gnomAD-4.0.0 1.59152E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85892E-06 0 0
N/K 33370 Fn3-130 81 None 0.9995 None 1.0 D 0.761 0.596 0.25216284 gnomAD-4.0.0 6.84449E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99659E-07 0 0
N/D 33471 Fn3-131 80 rs1313883855 0.9845 None 0.999 D 0.613 0.648 0.5225591 gnomAD-4.0.0 3.18308E-06 None None None None N None 0 4.57519E-05 None 0 0 None 0 0 0 0 0
N/Y 33471 Fn3-131 80 rs1313883855 0.9794 -0.362 1.0 D 0.788 0.69 0.64223254 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
N/Y 33471 Fn3-131 80 rs1313883855 0.9794 -0.362 1.0 D 0.788 0.69 0.64223254 gnomAD-4.0.0 1.59154E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85835E-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.