SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
V/A | 1794 | Ig-8 | 92 | rs774766261 | 0.9246 | -1.707 | 0.999 | D | 0.784 | 0.714 | 0.802620329787 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.93E-05 | 0 | None | 0 | None | 0 | 1.77E-05 | 1.64258E-04 |
V/A | 1794 | Ig-8 | 92 | rs774766261 | 0.9246 | -1.707 | 0.999 | D | 0.784 | 0.714 | 0.802620329787 | gnomAD-4.0.0 | 1.12418E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41196E-04 | 1.42837E-05 | 0 | 3.02499E-05 |
A/D | 2706 | Ig-16 | 86 | None | 0.5244 | None | 0.993 | D | 0.66 | None | 0.771029458599 | gnomAD-4.0.0 | 1.59984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85696E-06 | 0 | 0 |
V/G | 3142 | Ig-21 | 85 | rs1165830952 | 0.9802 | -2.75 | 1.0 | D | 0.743 | 0.655 | 0.56380075071 | 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 |
V/G | 3142 | Ig-21 | 85 | rs1165830952 | 0.9802 | -2.75 | 1.0 | D | 0.743 | 0.655 | 0.56380075071 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85654E-06 | 0 | 0 |
V/A | 3749 | Ig-26 | 90 | None | 0.4626 | None | None | None | None | 0.332 | None | gnomAD-4.0.0 | 1.37748E-06 | None | None | None | None | I | None | 3.00625E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66683E-05 |
I/L | 3909 | Ig-27 | 90 | None | 0.2315 | None | 0.003 | N | 0.387 | 0.134 | None | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 6.07533E-05 | 0 |
I/T | 3909 | Ig-27 | 90 | rs1452766565 | 0.7336 | -1.955 | 0.081 | D | 0.523 | 0.295 | None | 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/T | 3909 | Ig-27 | 90 | rs1452766565 | 0.7336 | -1.955 | 0.081 | D | 0.523 | 0.295 | None | gnomAD-4.0.0 | 8.21015E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07932E-05 | 0 | 0 |
I/V | 3909 | Ig-27 | 90 | None | 0.1332 | None | None | N | 0.285 | 0.076 | None | 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 | 4977 | Ig-32 | 90 | None | 0.5388 | None | 0.334 | D | 0.661 | 0.676 | 0.764842827521 | gnomAD-4.0.0 | 7.03072E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.12019E-07 | 0 | 0 |
V/D | 6944 | Ig-53 | 91 | rs1278982841 | 0.9756 | -1.75 | 0.997 | D | 0.811 | 0.883 | 0.938277259092 | gnomAD-2.1.1 | 5.17E-06 | None | None | None | None | N | None | 0 | 3.45E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/D | 6944 | Ig-53 | 91 | rs1278982841 | 0.9756 | -1.75 | 0.997 | D | 0.811 | 0.883 | 0.938277259092 | gnomAD-4.0.0 | 3.47205E-06 | None | None | None | None | N | None | 0 | 5.22057E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/F | 6944 | Ig-53 | 91 | rs2079162110 | 0.5577 | None | 0.982 | D | 0.783 | 0.614 | 0.915955184925 | gnomAD-4.0.0 | 1.73095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.10064E-06 | 0 | 0 |
V/A | 7885 | Ig-63 | 91 | rs2078098721 | 0.7283 | None | 0.973 | D | 0.691 | 0.768 | 0.83395928633 | gnomAD-4.0.0 | 2.06364E-06 | None | None | None | None | N | None | 0 | 0 | None | 7.78938E-05 | 0 | None | 0 | 0 | 0 | 0 | 1.66689E-05 |
V/L | 7885 | Ig-63 | 91 | rs1438134317 | 0.4996 | -0.709 | 0.535 | D | 0.705 | 0.528 | 0.729328342088 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.43E-05 | None | 0 | 0 | 0 |
V/L | 7885 | Ig-63 | 91 | rs1438134317 | 0.4996 | -0.709 | 0.535 | D | 0.705 | 0.528 | 0.729328342088 | gnomAD-4.0.0 | 3.22379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.92184E-05 | 0 |
V/I | 8826 | Ig-73 | 91 | rs200116046 | 0.0654 | -0.82 | 0.001 | N | 0.471 | 0.258 | None | 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 |
V/I | 8826 | Ig-73 | 91 | rs200116046 | 0.0654 | -0.82 | 0.001 | N | 0.471 | 0.258 | None | gnomAD-4.0.0 | 2.74088E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70241E-06 | 1.16085E-05 | 0 |
V/I | 9986 | Ig-84 | 87 | rs897070145 | 0.1704 | None | 0.997 | None | 0.553 | 0.419 | 0.597181378002 | gnomAD-4.0.0 | 1.37799E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80776E-06 | 0 | 0 |
E/A | 10074 | Ig-85 | 86 | rs1441211227 | 0.3563 | 0.044 | 0.999 | None | 0.597 | 0.36 | 0.227260227426 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65453E-04 |
E/A | 10074 | Ig-85 | 86 | rs1441211227 | 0.3563 | 0.044 | 0.999 | None | 0.597 | 0.36 | 0.227260227426 | gnomAD-4.0.0 | 3.18376E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71651E-06 | 0 | 0 |
E/D | 10074 | Ig-85 | 86 | None | 0.552 | None | 0.999 | None | 0.493 | 0.225 | 0.144782658237 | 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 |
E/K | 10074 | Ig-85 | 86 | rs794729402 | 0.3947 | 0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40252E-04 |
E/K | 10074 | Ig-85 | 86 | rs794729402 | 0.3947 | 0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
E/K | 10074 | Ig-85 | 86 | rs794729402 | 0.3947 | 0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-4.0.0 | 1.36355E-05 | None | None | None | None | I | None | 1.33497E-05 | 3.33422E-05 | None | 0 | 0 | None | 0 | 1.64366E-04 | 1.52569E-05 | 0 | 0 |
L/V | 13958 | Ig-89 | 83 | None | 0.5222 | None | 0.997 | D | 0.549 | 0.451 | 0.690638299042 | gnomAD-4.0.0 | 6.87166E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01837E-07 | 0 | 0 |
T/A | 14138 | Ig-91 | 85 | None | 0.108 | None | 0.044 | N | 0.256 | 0.099 | 0.104622674875 | gnomAD-4.0.0 | 6.89099E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01369E-07 | 0 | 0 |
T/P | 14138 | Ig-91 | 85 | rs376500376 | 0.4134 | -0.063 | 0.31 | N | 0.394 | 0.234 | None | gnomAD-2.1.1 | 1.48E-05 | None | None | None | None | I | None | 1.67462E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
T/P | 14138 | Ig-91 | 85 | rs376500376 | 0.4134 | -0.063 | 0.31 | N | 0.394 | 0.234 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 1.44788E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
T/P | 14138 | Ig-91 | 85 | rs376500376 | 0.4134 | -0.063 | 0.31 | N | 0.394 | 0.234 | None | gnomAD-4.0.0 | 5.61355E-06 | None | None | None | None | I | None | 1.21737E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/I | 14226 | Ig-92 | 85 | rs1232583484 | 0.2344 | -0.464 | 0.997 | D | 0.467 | 0.359 | 0.736372478493 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/I | 14226 | Ig-92 | 85 | rs1232583484 | 0.2344 | -0.464 | 0.997 | D | 0.467 | 0.359 | 0.736372478493 | gnomAD-4.0.0 | 1.59314E-06 | None | None | None | None | N | None | 0 | 2.28833E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
A/S | 14316 | Ig-93 | 86 | None | 0.1108 | None | 0.103 | D | 0.186 | 0.204 | 0.223146558224 | gnomAD-4.0.0 | 3.42206E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49819E-06 | 0 | 0 |
A/T | 14316 | Ig-93 | 86 | rs763386894 | 0.1665 | -0.617 | 0.811 | D | 0.25 | 0.246 | 0.313818047136 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
A/T | 14316 | Ig-93 | 86 | rs763386894 | 0.1665 | -0.617 | 0.811 | D | 0.25 | 0.246 | 0.313818047136 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52551E-05 | None | 0 | 0 | 1.79928E-06 | 0 | 0 |
I/V | 14491 | Ig-95 | 84 | rs765783194 | 0.139 | None | 0.132 | N | 0.126 | 0.064 | 0.530309751445 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96567E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/V | 14491 | Ig-95 | 84 | rs765783194 | 0.139 | None | 0.132 | N | 0.126 | 0.064 | 0.530309751445 | gnomAD-4.0.0 | 1.97189E-05 | None | None | None | None | N | None | 0 | 1.96567E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
L/R | 14582 | Ig-96 | 86 | rs2059886153 | 0.1817 | None | 0.996 | N | 0.67 | 0.506 | 0.816327850401 | 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 |
L/R | 14582 | Ig-96 | 86 | rs2059886153 | 0.1817 | None | 0.996 | N | 0.67 | 0.506 | 0.816327850401 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
M/I | 15023 | Ig-101 | 82 | rs373308815 | 0.3197 | -0.769 | 0.454 | N | 0.522 | 0.101 | 0.308904156042 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12841E-04 | None | 0 | None | 0 | 0 | 0 |
M/I | 15023 | Ig-101 | 82 | rs373308815 | 0.3197 | -0.769 | 0.454 | N | 0.522 | 0.101 | 0.308904156042 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.88954E-04 | None | 0 | 0 | 0 | 0 | 0 |
M/I | 15023 | Ig-101 | 82 | rs373308815 | 0.3197 | -0.769 | 0.454 | N | 0.522 | 0.101 | 0.308904156042 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
M/I | 15023 | Ig-101 | 82 | rs373308815 | 0.3197 | -0.769 | 0.454 | N | 0.522 | 0.101 | 0.308904156042 | gnomAD-4.0.0 | 5.13495E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.76324E-05 | None | 0 | 0 | 0 | 0 | 0 |
M/T | 15023 | Ig-101 | 82 | rs2058342072 | 0.3533 | None | 0.891 | N | 0.473 | 0.328 | 0.654164466603 | 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 |
M/V | 15023 | Ig-101 | 82 | rs370996945 | 0.1268 | None | 0.454 | N | 0.372 | 0.117 | 0.303781844768 | gnomAD-4.0.0 | 1.59509E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78987E-05 | None | 0 | 0 | 0 | 0 | 0 |
H/R | 15116 | Ig-102 | 86 | rs1413491989 | 0.0941 | 0.054 | 0.213 | N | 0.208 | 0.207 | 0.258283824007 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
H/R | 15116 | Ig-102 | 86 | rs1413491989 | 0.0941 | 0.054 | 0.213 | N | 0.208 | 0.207 | 0.258283824007 | gnomAD-4.0.0 | 3.42425E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00019E-07 | 4.64145E-05 | 0 |
H/Y | 15116 | Ig-102 | 86 | None | 0.1105 | None | 0.523 | N | 0.257 | 0.111 | 0.288727942641 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
V/D | 15204 | Ig-103 | 85 | rs1337863742 | 0.9968 | -2.346 | 0.998 | D | 0.711 | 0.826 | 0.876902895405 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
V/D | 15204 | Ig-103 | 85 | rs1337863742 | 0.9968 | -2.346 | 0.998 | D | 0.711 | 0.826 | 0.876902895405 | gnomAD-4.0.0 | 1.59547E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86261E-06 | 0 | 0 |
V/A | 15297 | Ig-104 | 90 | rs775158152 | 0.7523 | -1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 1.13514E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.85E-06 | 0 |
V/A | 15297 | Ig-104 | 90 | rs775158152 | 0.7523 | -1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | 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 | 15297 | Ig-104 | 90 | rs775158152 | 0.7523 | -1.758 | 0.999 | D | 0.762 | 0.73 | 0.715428137178 | gnomAD-4.0.0 | 1.67464E-05 | None | None | None | None | N | None | 0 | 6.67824E-05 | None | 0 | 0 | None | 0 | 0 | 1.86594E-05 | 0 | 1.60313E-05 |
I/T | 15386 | Ig-105 | 85 | None | 0.9357 | None | 0.999 | N | 0.602 | 0.454 | 0.619546946635 | gnomAD-4.0.0 | 1.5998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03841E-05 |
I/V | 15386 | Ig-105 | 85 | rs879033914 | 0.2076 | None | 0.985 | N | 0.288 | 0.217 | 0.365317461125 | gnomAD-4.0.0 | 2.05735E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70267E-06 | 0 | 0 |
A/S | 15565 | Ig-107 | 86 | rs145520397 | 0.1404 | -0.243 | 1.0 | N | 0.503 | 0.219 | None | gnomAD-2.1.1 | 6.06953E-04 | None | None | None | None | I | None | 6.09453E-03 | 3.71089E-04 | None | 0 | 0 | None | 0 | None | 0 | 5.5E-05 | 2.83126E-04 |
A/S | 15565 | Ig-107 | 86 | rs145520397 | 0.1404 | -0.243 | 1.0 | N | 0.503 | 0.219 | None | gnomAD-3.1.2 | 1.81698E-03 | None | None | None | None | I | None | 6.03748E-03 | 1.44585E-03 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 9.57854E-04 |
A/S | 15565 | Ig-107 | 86 | rs145520397 | 0.1404 | -0.243 | 1.0 | N | 0.503 | 0.219 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | I | None | 3E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
A/S | 15565 | Ig-107 | 86 | rs145520397 | 0.1404 | -0.243 | 1.0 | N | 0.503 | 0.219 | None | gnomAD-4.0.0 | 3.525E-04 | None | None | None | None | I | None | 6.10457E-03 | 7.36722E-04 | None | 0 | 0 | None | 1.56402E-05 | 1.65563E-04 | 2.96968E-05 | 0 | 4.81186E-04 |
V/A | 33587 | Ig-158 | 92 | None | 0.8847 | None | 1.0 | D | 0.765 | 0.872 | 0.789012101798 | gnomAD-4.0.0 | 4.80155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25028E-06 | 0 | 0 |
V/M | 33587 | Ig-158 | 92 | rs1401200720 | 0.8957 | -1.551 | 1.0 | D | 0.879 | 0.773 | 0.767170172808 | gnomAD-2.1.1 | 5.49E-06 | None | None | None | None | N | None | 0 | 4.6E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
V/M | 33587 | Ig-158 | 92 | rs1401200720 | 0.8957 | -1.551 | 1.0 | D | 0.879 | 0.773 | 0.767170172808 | gnomAD-4.0.0 | 1.8355E-06 | None | None | None | None | N | None | 0 | 3.42185E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
V/L | 34226 | Ig-160 | 90 | None | 0.6432 | None | 0.997 | D | 0.759 | 0.761 | 0.697533386117 | 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/L | 34350 | Ig-161 | 93 | None | 0.7806 | None | 0.09 | N | 0.701 | 0.325 | 0.37097340754 | gnomAD-4.0.0 | 4.77319E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57305E-06 | 0 | 0 |
I/L | 35218 | Ig-164 | 90 | None | 0.2508 | None | None | D | 0.249 | 0.138 | 0.151104730317 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76554E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
I/T | 35218 | Ig-164 | 90 | rs143499441 | 0.5996 | -2.21 | None | N | 0.336 | 0.357 | None | gnomAD-2.1.1 | 2.16939E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.00434E-03 | None | 0 | None | 0 | 0 | 0 |
I/T | 35218 | Ig-164 | 90 | rs143499441 | 0.5996 | -2.21 | None | N | 0.336 | 0.357 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 2.12028E-03 | None | 0 | 0 | 0 | 0 | 0 |
I/T | 35218 | Ig-164 | 90 | rs143499441 | 0.5996 | -2.21 | None | N | 0.336 | 0.357 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
I/T | 35218 | Ig-164 | 90 | rs143499441 | 0.5996 | -2.21 | None | N | 0.336 | 0.357 | None | gnomAD-4.0.0 | 1.75975E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.30627E-03 | None | 0 | 0 | 0 | 0 | 1.60031E-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.