Gene stringlengths 2 9 | Variation stringlengths 3 6 | CS stringclasses 2 values | SIFT_score float64 0 1 ⌀ | SIFT4G_score float64 0 1 ⌀ | Polyphen2_HDIV_score float64 0 1 ⌀ | Polyphen2_HVAR_score float64 0 1 ⌀ | LRT_score float64 0 1 ⌀ | MutationTaster_score float64 0 1 ⌀ | MutationAssessor_score float64 -4.75 5.59 ⌀ | FATHMM_score float64 -12.4 9.83 ⌀ | PROVEAN_score float64 -13.97 12.4 ⌀ | VEST4_score float64 0 1 ⌀ | MetaSVM_score float64 -1.5 1.56 ⌀ | MetaLR_score float64 0 1 ⌀ | MetaRNN_score float64 0 1 | M-CAP_score float64 0 1 ⌀ | REVEL_score float64 0 1 ⌀ | MutPred_score float64 0.03 1 ⌀ | MVP_score float64 0.01 1 ⌀ | gMVP_score float64 0 1 ⌀ | MPC_score float64 0 5 ⌀ | PrimateAI_score float64 0.15 0.97 ⌀ | DEOGEN2_score float64 0 1 ⌀ | BayesDel_addAF_score float64 -0.93 0.74 ⌀ | BayesDel_noAF_score float64 -1.21 0.83 ⌀ | ClinPred_score float64 0 1 ⌀ | LIST-S2_score float64 0 1 ⌀ | DANN_score float64 0.03 1 | fathmm-MKL_coding_score float64 0 1 | fathmm-XF_coding_score float64 0.01 0.99 ⌀ | GenoCanyon_score float64 0 1 | integrated_fitCons_score float64 0 0.84 ⌀ | GM12878_fitCons_score float64 0 0.96 ⌀ | H1-hESC_fitCons_score float64 0 0.86 ⌀ | HUVEC_fitCons_score float64 0 0.84 ⌀ | CADD_score float64 -2.8 8.31 | Eigen_score float64 -2.92 1.25 ⌀ | Eigen-PC_score float64 -2.99 1.14 ⌀ | GERP++_score float64 -12.3 6.17 ⌀ | phastCons100way_vertebrate_score float64 0 1 ⌀ | phastCons470way_mammalian_score float64 0 1 ⌀ | phastCons17way_primate_score float64 0 1 ⌀ | SiPhy_score float64 0.01 36.1 ⌀ | bStatistic_score float64 0 1k ⌀ | AlphaMissense_score float64 0.03 1 ⌀ | Envision_score float64 0.47 1.12 ⌀ | SuSPect_score float64 0 100 ⌀ | VARITY_R_score float64 0.01 1 ⌀ | VARITY_ER_score float64 0.01 0.99 ⌀ | VARITY_R_LOO_score float64 0.01 1 ⌀ | VARITY_ER_LOO_score float64 0.01 0.99 ⌀ | PONP2_score float64 0 1 ⌀ | DeepSAV_score float64 0 1 ⌀ | VESPA_score float64 -1 0.89 ⌀ | ESM1b_score float64 -22.2 9.82 ⌀ | CPT_score float64 0 0.92 ⌀ | EVE_score float64 0.01 1 ⌀ | ESM1v_score float64 -20.55 6.94 ⌀ | MutFormer_score float64 0 1 ⌀ | MISTIC_score float64 0.01 0.99 ⌀ | InMeRF_score float64 0 1 ⌀ | LASSIE_score float64 0 0 ⌀ | CAPICE_score float64 0 1 ⌀ | SIGMA_score float64 0 1 ⌀ | MutScore_score float64 0 1 ⌀ | UNEECON_score float64 0 0.98 ⌀ | PhDSNP_score float64 0 1 ⌀ | gnomAD_exomes_AF float64 0 1 ⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT6 | P36T | Benign | 0.277 | 0.474 | 0.117 | 0.01 | 0.07395 | 0.722975 | 1.04 | 0.89 | -0.52 | 0.006 | -1.0617 | 0.0343 | 0.118694 | 0.368316 | 0.017 | 0.315 | 0.265929 | 0.224373 | 1.764603 | 0.847084 | 0.005697 | -0.329271 | -0.710752 | 0.110421 | 0.324568 | 0.973412 | 0.50184 | 0.044857 | 1 | 0.437478 | 0.218748 | 0.391439 | 0.603991 | 0.850841 | -1.172362 | -1.222305 | -0.82 | 0.552 | 0 | 0.05 | 6.1685 | 745 | 0.0829 | 0.978582 | 26 | 0.042542 | 0.07229 | 0.042542 | 0.07229 | 0.049 | 0.13158 | 0.324823 | -5.844 | 0.08653 | null | -5.549818 | 0.236341 | 0.122843 | 0.008333 | 0.00005 | 0.0004 | 0.106588 | 0.051 | 0.00967 | 0.019 | null |
ATAD3A | R218W | Pathogenic | 0 | 0 | 1 | 0.999 | 0 | 0.999925 | 3.105 | -2.17 | -6.74 | 0.829 | 0.681 | 0.8041 | 0.776024 | 0.129814 | 0.337 | 0.394 | 0.957229 | 0.746304 | 1.105275 | 0.885202 | 0.36522 | 0.182592 | 0.024504 | 0.994911 | 0.969603 | 0.998396 | 0.74536 | 0.486089 | 0.001597 | 0.706548 | 0.702456 | 0.724815 | 0.714379 | 3.756281 | 0.352959 | 0.161313 | -0.33 | 0.993 | 0.998 | 0.869 | 11.4861 | 846 | 0.876 | 0.733077 | 56 | 0.742973 | 0.545136 | 0.742973 | 0.545136 | 0.252 | 0.21787 | 0.604989 | -14.373 | 0.548098 | 0.729926 | -11.178408 | 0.028874 | 0.816256 | 0.540628 | 0.000549 | 0.0999 | 0.248666 | 0.931 | 0.279771 | 0.352 | 0.000004 |
ESPN | R113C | Benign | 0.022 | 0 | 1 | 0.999 | 0.000001 | 1 | 1.48 | -0.21 | -6.41 | 0.894 | -0.4081 | 0.3349 | 0.099449 | 0.078787 | 0.448 | null | 0.738976 | 0.506611 | 0.742892 | 0.746618 | 0.227352 | -0.115348 | 0.015983 | 0.44289 | 0.986964 | 0.999391 | 0.9273 | 0.753234 | 1 | 0.615755 | 0.618376 | 0.578056 | 0.542086 | 4.413077 | 0.562535 | 0.557722 | 4.48 | 1 | 1 | 0.998 | 11.1908 | 834 | 0.5274 | 0.719329 | 41 | 0.387744 | 0.384293 | 0.376235 | 0.338062 | 0.884 | 0.85951 | 0.568282 | -13.379 | 0.353912 | null | -8.344957 | 0.00749 | 0.498265 | 0.269644 | 0.000575 | 0.3742 | 0.932046 | 0.589 | 0.100829 | 0.943 | 0.000509 |
CAMTA1 | I589V | Benign | 0.266 | 0.68 | 0.913 | 0.891 | 0 | 0.998648 | 1.04 | 2.03 | -0.25 | 0.435 | -1.1106 | 0.0855 | 0.295159 | 0.01215 | 0.171 | 0.101 | 0.477087 | 0.274977 | 1.210556 | 0.611595 | 0.009363 | -0.133856 | -0.430052 | 0.941158 | 0.929107 | 0.985151 | 0.93177 | 0.757775 | 0.984883 | 0.487112 | 0.573888 | 0.578056 | 0.613276 | 2.09754 | 0.434022 | 0.471921 | 5.28 | 1 | 1 | 0.471 | 15.2091 | 913 | 0.2024 | 0.931455 | 12 | 0.091227 | 0.106668 | 0.091227 | 0.106668 | 0.244 | 0.03252 | 0.194558 | -6.993 | 0.133971 | 0.270299 | null | 0.002471 | 0.092241 | 0.360028 | 0.000299 | 0.0015 | 0.037401 | 0.083 | 0.072069 | 0.725 | null |
CAMTA1 | R1135W | Pathogenic | 0.002 | 0.007 | 1 | 0.982 | 0 | 0.999962 | 1.59 | 1.39 | -4.82 | 0.881 | -0.8636 | 0.1544 | 0.814788 | 0.029695 | 0.276 | 0.495 | 0.741308 | 0.879549 | 1.410327 | 0.908644 | 0.229658 | 0.195738 | 0.043387 | 0.99276 | 0.958004 | 0.999226 | 0.91467 | 0.491099 | 0.475749 | 0.615465 | 0.59043 | 0.658983 | 0.613276 | 3.823633 | 0.469912 | 0.47587 | 4.98 | 0.995 | 0.124 | 0.872 | 14.1324 | 792 | 0.8709 | 0.776444 | 17 | 0.475032 | 0.413401 | 0.475032 | 0.413401 | 0.923 | 0.47667 | 0.515913 | -9.403 | 0.469532 | 0.639527 | null | 0.504112 | 0.37355 | 0.372786 | 0.000523 | 0.0035 | 0.597415 | 0.481 | 0.533895 | 0.948 | null |
RERE | H1272R | Benign | 0.049 | 0.039 | 0.998 | 0.997 | null | 0.999999 | 2.79 | 0.71 | -5.84 | 0.5345 | -0.7108 | 0.2615 | 0.637447 | 0.023648 | 0.482 | 0.831 | 0.931653 | 0.87246 | 0.434266 | 0.738739 | 0.646793 | 0.265138 | 0.143076 | 0.927787 | 0.939106 | 0.997973 | 0.87447 | 0.567177 | 0.999999 | 0.706548 | 0.702456 | 0.724815 | 0.714379 | 3.617604 | 0.62059 | 0.616462 | 5.46 | 1 | 1 | 1 | 15.019 | 867 | 0.9847 | 0.85311 | 37 | 0.465421 | 0.59064 | 0.465421 | 0.59064 | 0.79 | 0.13031 | 0.380604 | -17.288 | 0.22024 | 0.49285 | null | 0.956913 | 0.772293 | 0.907888 | 0.000479 | 0.0739 | 0.854733 | 0.828 | 0.223556 | 0.899 | null |
ATP13A2 | R460Q | Benign | 0.027 | 0.179 | 0.999 | 0.941 | 0.000003 | 0.993584 | 3.47 | -2.77 | -1.11 | 0.634 | 0.8274 | 0.842 | 0.64134 | 0.372848 | 0.723 | null | 0.888346 | 0.92119 | 1.151938 | 0.495225 | 0.42931 | 0.086203 | 0.122717 | 0.857145 | 0.932107 | 0.999452 | 0.92243 | 0.418686 | 0.622219 | 0.706298 | 0.709663 | 0.723109 | 0.714379 | 3.934383 | 0.600661 | 0.494566 | 4.15 | 0.554 | 1 | 0.984 | 9.283 | 846 | 0.2524 | 0.840392 | 42 | 0.145468 | 0.128773 | 0.145468 | 0.128773 | 0.683 | 0.70937 | 0.444343 | -9.898 | 0.322294 | 0.368621 | null | 0.871801 | 0.674682 | 0.794372 | 0.000546 | 0.0435 | 0.85178 | 0.16 | 0.234171 | 0.438 | 0.000012 |
ATP13A2 | R76Q | Benign | 0.343 | 0.510333 | 0.665 | 0.174 | 0.002711 | 0.549747 | 2.645 | 1.82 | -0.81 | 0.422333 | -0.9293 | 0.0843 | 0.217504 | 0.043455 | 0.092 | 0.568 | 0.410337 | 0.703653 | 1.088519 | 0.384832 | 0.06676 | -0.210863 | -0.457801 | 0.561535 | 0.929107 | 0.999192 | 0.3317 | 0.095048 | 0.996652 | 0.706548 | 0.633656 | 0.723109 | 0.714379 | 3.175661 | 0.225844 | 0.237309 | 3.16 | 0.999 | 0.999 | 0.988 | 1.3476 | 846 | 0.0899 | 0.865916 | 34 | 0.026279 | 0.034028 | 0.026279 | 0.034028 | 0.332 | 0.3949 | 0.403814 | -4.983 | 0.215795 | 0.15854 | null | 0.173422 | 0.231392 | 0.134012 | 0.00023 | 0.0134 | 0.055034 | 0.089 | 0.104345 | 0.269 | 0.000004 |
EMC1 | L277R | Benign | 0.005 | 0.02 | 0.8315 | 0.386 | 0.024494 | 0.999987 | 1.78 | 1.875 | -2.315 | 0.5995 | -1.1172 | 0.0743 | 0.59269 | 0.013478 | 0.203 | 0.614 | 0.56935 | 0.730222 | 0.787874 | 0.481944 | 0.019198 | 0.035926 | -0.186171 | 0.785631 | 0.919808 | 0.996391 | 0.90257 | 0.678481 | 0.99997 | 0.706548 | 0.724815 | 0.724815 | 0.714379 | 3.400137 | 0.396016 | 0.451628 | 5.72 | 0.999 | 1 | 0.88 | 14.8444 | 778 | 0.145 | 0.858703 | 23 | 0.460009 | 0.308941 | 0.460009 | 0.308941 | 0.5 | 0.44787 | 0.42672 | -6.93 | 0.462796 | 0.612936 | -7.094535 | 0.008864 | 0.376946 | 0.127282 | 0.000447 | 0.001 | 0.076784 | 0.505 | 0.218704 | 0.819 | null |
HSPG2 | S2446L | Benign | 0.278 | 0.072 | 0.967 | 0.612 | 0.004714 | 0.60539 | 0.08 | -0.09 | -2.15 | 0.637 | -0.7305 | 0.191 | 0.316536 | 0.03567 | 0.228 | null | 0.700718 | 0.323927 | 0.593412 | 0.541868 | 0.174692 | -0.32124 | -0.247445 | 0.084578 | 0.845515 | 0.996196 | 0.91584 | 0.588163 | 0.99908 | 0.706548 | 0.588066 | 0.724815 | 0.711 | 3.558788 | 0.19907 | 0.199184 | 5.29 | 1 | 1 | 0.082 | 11.5368 | 829 | 0.1121 | 0.829275 | 14 | 0.063738 | 0.087418 | 0.063738 | 0.087418 | 0.436 | 0.21512 | 0.405652 | -7.618 | 0.233766 | null | null | 0.499619 | 0.270721 | 0.35097 | 0.000313 | 0.0002 | null | 0.108 | 0.104366 | 0.194 | 0.000443 |
HSPG2 | R1478H | Benign | 0 | 0 | 1 | 0.998 | 0.002209 | 0.999999 | 3.49 | 1.08 | -4.52 | 0.651 | -0.2354 | 0.3327 | 0.95268 | 0.046468 | 0.544 | 0.885 | 0.569279 | 0.801678 | 0.874967 | 0.729586 | 0.392296 | 0.014783 | -0.053902 | 0.931746 | 0.959504 | 0.999361 | 0.9707 | 0.878659 | 1 | 0.67177 | 0.588066 | 0.723109 | 0.711 | 3.554574 | 0.745077 | 0.63564 | 5.31 | 1 | 1 | 0.656 | 16.4647 | 811 | 0.4914 | 0.778646 | 60 | 0.84057 | 0.700057 | 0.84057 | 0.700057 | 0.583 | 0.78485 | 0.427565 | -10.15 | 0.3935 | null | null | 0.302217 | 0.473884 | 0.613681 | 0.000539 | 0.0148 | null | 0.56 | 0.46075 | 0.679 | 0.000028 |
WNT4 | C338F | Benign | 0 | 0 | 1 | 0.997 | 0.000001 | 1 | 4.14 | -2.25 | -9.05 | 0.924 | 0.9502 | 0.8475 | 0.989109 | 0.555322 | 0.944 | 0.879 | 0.994133 | 0.998511 | 2.253141 | 0.847569 | 0.960144 | 0.459411 | 0.422136 | 0.998963 | 0.999886 | 0.99334 | 0.99635 | 0.939778 | 1 | 0.536635 | 0.379588 | 0.489635 | 0.711 | 4.100865 | 0.882923 | 0.766559 | 4.16 | 1 | 1 | 0.998 | 15.5591 | 640 | 0.9976 | 0.811786 | 91 | 0.973824 | 0.975132 | 0.973824 | 0.975132 | 0.897 | 0.95938 | 0.830563 | -15.573 | 0.828298 | 0.998168 | -13.477514 | 0.990824 | 0.938087 | 0.944181 | 0.000586 | 0.2998 | 0.893998 | 0.921 | 0.786716 | 0.943 | null |
WNT4 | E77V | Benign | 0 | 0.001 | 1 | 0.996 | 0 | 1 | 3.07 | -1.42 | -6.21 | 0.926 | 0.5994 | 0.7105 | 0.977243 | 0.496371 | 0.96 | 0.839 | 0.994606 | 0.927935 | 1.993926 | 0.787866 | 0.953498 | 0.434593 | 0.386486 | 0.995663 | 0.989181 | 0.993544 | 0.99104 | 0.93212 | 0.999999 | 0.706298 | 0.588066 | 0.709663 | 0.613276 | 3.788461 | 0.832191 | 0.770377 | 5.25 | 1 | 1 | 0.845 | 13.9909 | 684 | 0.9924 | 0.837347 | 54 | 0.911671 | 0.804338 | 0.911671 | 0.804338 | 0.893 | 0.77093 | 0.581865 | -16.003 | 0.564119 | 0.841747 | -12.734918 | 0.856009 | 0.859008 | 0.741303 | 0.000547 | 0.444 | 0.31214 | 0.468 | 0.387116 | 0.71 | null |
ARID1A | D641A | Benign | 0 | 0.1565 | 0.9995 | 0.9955 | 0 | 1 | 2.44 | 3.645 | -6.26 | 0.592 | -1.2065 | 0.0522 | 0.560968 | 0.028731 | 0.356 | 0.197 | 0.592076 | 0.659408 | 0.644195 | 0.818156 | 0.686737 | 0.066201 | -0.142684 | 0.97934 | 0.920158 | 0.996376 | 0.99328 | 0.895882 | 1 | 0.706548 | 0.724815 | 0.643519 | 0.714379 | 4.706704 | 0.838151 | 0.82658 | 5.95 | 1 | 1 | 0.914 | 16.4237 | 420 | 0.988 | 0.837084 | 26 | 0.830354 | 0.74452 | 0.830354 | 0.74452 | 0.731 | 0.85613 | 0.573019 | -10.61 | 0.167012 | 0.696319 | null | 0.946778 | 0.260866 | 0.369372 | 0.000582 | 0.6983 | 0.083091 | 0.617 | 0.625721 | 0.978 | null |
ARID1A | P293S | Benign | 0 | 0.1665 | 0.986 | 0.7705 | 0.000001 | 0.999804 | 1.665 | 2.63 | -4.11 | 0.1745 | -1.119 | 0.0571 | 0.324828 | 0.529929 | 0.136 | 0.172 | 0.451585 | 0.709936 | 0.523116 | 0.947925 | 0.591749 | -0.047483 | -0.305982 | 0.977721 | 0.911209 | 0.989718 | 0.37918 | 0.436917 | 1 | 0.266657 | 0.484254 | 0.519653 | 0.492483 | 3.510431 | 0.313734 | 0.295402 | 2.75 | 1 | 1 | 0.997 | 11.7306 | 550 | 0.9331 | 0.853887 | 52 | 0.831116 | 0.841329 | 0.831116 | 0.841329 | 0.173 | 0.3647 | 0.648036 | -12.162 | 0.1455 | null | null | 0.993048 | 0.02818 | 0.10035 | 0.000508 | 0.0121 | 0.221939 | 0.608 | 0.37809 | 0.713 | null |
ARID1A | G1711A | Benign | 0.015 | 0.056 | 0.521 | 0.443 | 0 | 0.99845 | 2.24 | 3.47 | -5.73 | 0.719 | -0.3407 | 0.3857 | 0.662621 | 0.010293 | 0.307 | 0.429 | 0.765383 | 0.879941 | 1.503415 | 0.835491 | 0.699432 | 0.07884 | -0.124528 | 0.986615 | 0.997888 | 0.992178 | 0.98004 | 0.907905 | 1 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 3.260502 | 0.558189 | 0.60485 | 4.8 | 1 | 1 | 1 | 18.4153 | 408 | 0.7337 | 0.857184 | 41 | 0.886992 | 0.714828 | 0.886992 | 0.714828 | 0.656 | 0.86725 | 0.612273 | -12.697 | 0.382325 | 0.744912 | null | 0.466789 | 0.730406 | 0.333441 | 0.000558 | 0.0053 | 0.216998 | 0.902 | 0.62013 | 0.897 | null |
AK2 | G205E | Benign | 0.005 | 0.027667 | 0.9865 | 0.901 | 0 | 1 | 2.99 | -1.08 | -6.46 | 0.896667 | 0.467 | 0.6711 | 0.045576 | null | 0.817 | null | 0.943654 | 0.75244 | 0.859197 | 0.655074 | 0.619816 | 0.373074 | 0.298119 | 0.885084 | 0.789521 | 0.998177 | 0.98744 | 0.8247 | 1 | 0.706548 | 0.702456 | 0.724815 | 0.714379 | 3.692906 | 0.814917 | 0.765905 | 5.17 | 1 | 1 | 0.996 | 19.5674 | 542 | 0.3429 | 0.89023 | 35 | 0.865872 | 0.810084 | 0.865872 | 0.810084 | 0.883 | 0.4228 | 0.315862 | -8.894 | 0.463641 | 0.322472 | -8.180334 | 0.155581 | 0.680478 | 0.691503 | 0.000573 | 0.0566 | 0.615251 | 0.697 | 0.239061 | 0.914 | null |
GJB3 | F51V | Benign | 0 | 0.002 | 1 | 0.998 | 0 | 1 | 3.935 | -5.87 | -6.8 | 0.9515 | 0.9913 | 0.989 | 0.989072 | 0.534993 | 0.98 | 0.916 | 0.989111 | 0.914456 | 0.449578 | 0.787949 | 0.952181 | 0.573928 | 0.602118 | 0.998463 | 0.979822 | 0.991243 | 0.9674 | 0.94354 | 1 | 0.713056 | 0.59043 | 0.608524 | 0.562822 | 3.78899 | 0.94473 | 0.849708 | 5.85 | 1 | 1 | 0.889 | 15.9218 | 905 | 0.9798 | 0.804079 | 88 | 0.973331 | 0.932873 | 0.973331 | 0.932873 | 0.675 | 0.83494 | 0.585817 | -9.782 | 0.690469 | 0.933198 | -10.97659 | 0.997097 | 0.698882 | 0.953083 | 0.000586 | 0.0353 | 0.523195 | 0.7 | 0.219246 | 0.897 | 0.000008 |
COL9A2 | R640Q | Benign | 0.121 | 0.268 | 1 | 0.956 | 0.000007 | 0.999974 | 1.02 | -2.96 | -1.48 | 0.355 | 0.6005 | 0.7867 | 0.531192 | 0.122461 | 0.495 | 0.343 | 0.918275 | 0.503385 | 0.743965 | 0.549289 | 0.299268 | -0.017812 | -0.057856 | 0.621333 | 0.935906 | 0.999425 | 0.98308 | 0.654636 | 1 | 0.67177 | 0.702456 | 0.645312 | 0.542086 | 3.705341 | 0.451464 | 0.427712 | 5.21 | 1 | 1 | 0.885 | 16.2802 | 442 | 0.0774 | 0.876615 | 7 | 0.152563 | 0.141186 | 0.152563 | 0.141186 | 0.606 | 0.45217 | 0.300789 | -6.252 | 0.274268 | null | -6.343989 | 0.017566 | 0.627166 | 0.631747 | 0.000271 | 0.0155 | 0.113111 | 0.161 | 0.075954 | 0.914 | 0.000044 |
COL9A2 | G457S | Benign | 0 | 0 | 1 | 0.994 | 0 | 1 | 3.905 | -6.27 | -5.27 | 0.529 | 1.0164 | 0.9902 | 0.984217 | 0.644638 | 0.952 | 0.946 | 0.96706 | 0.953153 | 0.918505 | 0.714405 | 0.626388 | 0.35249 | 0.268551 | 0.999378 | 0.959304 | 0.997724 | 0.95647 | 0.595703 | 0.999999 | 0.764865 | 0.643519 | 0.731555 | 0.542086 | 3.872536 | 0.689706 | 0.529467 | 3.62 | 1 | 1 | 0.073 | 10.701 | 423 | 0.6625 | 0.913575 | 76 | 0.848304 | 0.836815 | 0.848304 | 0.836815 | 0.479 | 0.95816 | 0.697472 | -10.783 | 0.416528 | null | -9.28112 | 0.091672 | 0.689377 | 0.766417 | 0.000531 | 0.0094 | 0.061395 | 0.828 | 0.331514 | 0.896 | null |
SLC2A1 | G76R | Pathogenic | 0.001 | 0.001 | 1 | 1 | 0 | 1 | 4.33 | -0.79 | -7.49 | 0.999 | 0.8233 | 0.7465 | 0.976456 | 0.594274 | 0.913 | 0.827 | 0.954055 | 0.993848 | 2.194446 | 0.899803 | 0.890557 | 0.420319 | 0.365982 | 0.999895 | 0.989934 | 0.999303 | 0.91493 | 0.949719 | 1 | 0.730579 | 0.749866 | 0.67197 | 0.6365 | 4.076675 | 1.004748 | 0.885568 | 5.24 | 1 | 1 | 0.995 | 16.3108 | 396 | 0.9967 | 0.788138 | 86 | 0.98672 | 0.972131 | 0.98672 | 0.972131 | 0.88 | 0.98373 | 0.607337 | -14.435 | 0.850675 | 0.962012 | -15.762895 | 0.999383 | 0.965705 | 0.934333 | 0.000581 | 0.9356 | 0.989625 | 0.971 | 0.854209 | 0.972 | null |
ST3GAL3 | V199M | Pathogenic | 0.000333 | 0.001 | 1 | 0.9998 | 0 | 1 | 3.925 | 0.266667 | -2.596667 | 0.8925 | 0.3197 | 0.5408 | 0.841256 | 0.097599 | 0.618 | null | 0.741822 | null | null | 0.847903 | 0.593085 | 0.371154 | 0.295361 | 0.999542 | 0.996307 | 0.999013 | 0.99389 | 0.93169 | 1 | 0.706548 | 0.653731 | 0.659464 | 0.714379 | 4.130106 | 1.063954 | 0.985604 | 5.53 | 1 | 1 | 0.991 | 19.454 | 78 | 0.9661 | 0.787348 | 69 | 0.891477 | 0.800642 | 0.891477 | 0.800642 | null | 0.6313 | 0.620669 | -12.844 | 0.687419 | 0.833786 | -11.007897 | 0.300393 | 0.839303 | 0.741925 | 0.000584 | 0.0305 | 0.624786 | 0.468 | 0.712861 | 0.558 | null |
FOXE3 | A255T | Benign | 0.833 | 0.266 | 0.141 | 0.031 | 0.983799 | 0.999993 | 0.55 | -3.38 | -0.49 | 0.123 | -0.488 | 0.547 | 0.142647 | 0.934542 | 0.232 | 0.243 | 0.407494 | 0.181911 | null | 0.853093 | 0.080982 | -0.032383 | -0.284293 | 0.108266 | 0.463654 | 0.975908 | 0.19429 | 0.044426 | 0.993226 | 0.59774 | 0.563428 | 0.608004 | 0.63947 | 0.879835 | -1.156501 | -1.104316 | 2.44 | 0 | 0.018 | 0.135 | 6.727 | 675 | 0.0877 | 0.993388 | 23 | 0.036275 | 0.072182 | 0.036275 | 0.072182 | 0.342 | 0.02835 | 0.286814 | -5.663 | 0.060416 | 0.102603 | -6.153307 | 0.097712 | 0.144654 | 0.2118 | 0.000006 | 0 | 0.052995 | 0.045 | 0.013809 | 0.116 | null |
ORC1 | A97S | Pathogenic | 0.293 | 0.707 | 0.007 | 0.005 | 0.082142 | 1 | 0.69 | 1.05 | -0.36 | 0.1345 | -1.0851 | 0.0474 | 0.031675 | 0.006128 | 0.06 | null | 0.201204 | 0.16761 | 0.171163 | 0.249904 | 0.164721 | -0.552612 | -0.648349 | 0.047531 | 0.360464 | 0.838367 | 0.11606 | 0.044248 | 0.993654 | 0.67177 | 0.702456 | 0.702456 | 0.635551 | -0.155725 | -1.439433 | -1.463047 | -5.04 | 0 | 0 | 0.43 | 0.2593 | 329 | 0.0775 | 0.929064 | 13 | 0.043605 | 0.040484 | 0.043605 | 0.040484 | 0.162 | 0.09281 | 0.261558 | -3.262 | 0.121606 | 0.13183 | -3.612407 | 0.002359 | 0.089431 | 0.066922 | 0.000016 | 0.0001 | 0.060622 | 0.079 | 0.0242 | 0.018 | 0.000115 |
DNAJC6 | A220T | Benign | 0.005 | 0.008 | 0.303 | 0.039 | 0.000086 | 0.937569 | 0.145 | -3.13 | -2.73 | 0.141 | 0.0245 | 0.5796 | 0.089717 | 0.083024 | 0.316 | null | 0.683253 | null | null | 0.464644 | 0.230575 | -0.276348 | -0.248993 | 0.088297 | 0.858514 | 0.972376 | 0.87085 | 0.148956 | 0.000539 | 0.638212 | 0.573888 | 0.653264 | 0.421255 | 2.076723 | -0.223611 | -0.238991 | 3.14 | 1 | 1 | 0.249 | 6.5489 | 757 | 0.0984 | 0.930205 | 11 | 0.162925 | 0.174689 | 0.162925 | 0.174689 | null | 0.2428 | 0.302732 | -4.514 | 0.118537 | null | -3.347874 | 0.080569 | 0.251166 | 0.439956 | 0.00037 | 0.0004 | 0.319932 | 0.292 | 0.123522 | 0.12 | 0.000411 |
COL11A1 | K1443R | Benign | 0.205 | 0.322 | 0.939 | 0.67 | 0 | 0.999997 | 0.855 | -2.63 | -1.52 | 0.538 | 0.0817 | 0.5008 | 0.602541 | 0.072205 | 0.546 | 0.456 | 0.80645 | 0.237376 | 0.094714 | 0.826743 | 0.630188 | 0.136229 | -0.042093 | 0.850895 | 0.824218 | 0.99651 | 0.98856 | 0.830358 | 0.999938 | 0.706298 | 0.588015 | 0.709663 | 0.613276 | 3.38741 | 0.288475 | 0.402089 | 5.47 | 1 | 1 | 0.995 | 15.8566 | 928 | 0.0927 | 0.882081 | 8 | 0.249573 | 0.261736 | 0.249573 | 0.261736 | null | 0.27841 | 0.317046 | -7.798 | 0.190445 | 0.226053 | null | 0.061218 | 0.417216 | 0.888175 | 0.00051 | 0.0018 | 0.238357 | 0.121 | 0.062729 | 0.858 | null |
COL11A1 | G1423E | Benign | 0 | 0 | 1 | 1 | 0 | 1 | 4.135 | -5.89 | -7.02 | 0.957 | 0.9696 | 0.9924 | 0.993301 | 0.846547 | 0.991 | 0.968 | 0.966254 | 0.98199 | 0.153173 | 0.892334 | 0.776293 | 0.580776 | 0.596468 | 0.999682 | 0.936606 | 0.992296 | 0.99681 | 0.939855 | 1 | 0.693126 | 0.573888 | 0.659464 | 0.564101 | 3.977411 | 1.104199 | 1.016808 | 5.9 | 1 | 1 | 0.964 | 20.2552 | 911 | 0.9926 | 0.756769 | 83 | 0.887212 | 0.921198 | 0.887212 | 0.921198 | null | 0.7365 | 0.699835 | -16.937 | 0.834899 | 0.97317 | null | 0.719722 | 0.907457 | 0.981377 | 0.000566 | 0.2913 | 0.575598 | 0.906 | 0.637143 | 0.917 | null |
COL11A1 | Y499H | Benign | 0.095 | 0.309 | 0.679 | 0.275 | 0.002002 | 0.90511 | 0.805 | -2.29 | -2.94 | 0.486 | -0.2615 | 0.3956 | 0.342507 | 0.060193 | 0.328 | 0.453 | 0.664816 | 0.808686 | 0.637257 | 0.656808 | 0.637034 | 0.089476 | -0.109251 | 0.909813 | 0.803645 | 0.994087 | 0.97824 | 0.598038 | 0.255519 | 0.706298 | 0.573888 | 0.709663 | 0.564101 | 3.294844 | 0.14398 | 0.257782 | 5.59 | 0.998 | 1 | 0.849 | 15.7579 | 830 | 0.3251 | 0.783608 | 16 | 0.158011 | 0.196917 | 0.158011 | 0.196917 | null | 0.1945 | 0.240495 | -6.1 | 0.181191 | null | null | 0.034397 | 0.268425 | 0.353513 | 0.000357 | 0.0026 | 0.290766 | 0.127 | 0.146904 | 0.774 | null |
AMPD2 | L797P | Pathogenic | 0 | 0.001 | 1 | 0.996 | 0.000001 | 1 | 3.75 | -2.26 | -6.35 | 0.9615 | 0.868 | 0.8161 | 0.988176 | 0.505752 | 0.958 | 0.957 | 0.988548 | 0.998101 | 2.127734 | 0.876763 | 0.898219 | 0.421869 | 0.451074 | 0.984056 | 0.926607 | 0.99907 | 0.94897 | 0.980402 | 1 | 0.712529 | 0.67197 | 0.635938 | 0.691587 | 4.53262 | 0.875372 | 0.788297 | 4.9 | 1 | 1 | 0.995 | 14.3437 | 840 | 0.9993 | 0.772716 | 88 | 0.964636 | 0.951202 | 0.964636 | 0.951202 | 0.911 | 0.95886 | 0.628747 | -16.937 | null | 0.797998 | -15.488985 | 0.995144 | 0.764705 | 0.959229 | 0.000586 | 0.7115 | null | 0.994 | 0.717669 | 0.975 | 0.000004 |
SLC6A17 | D59N | Benign | 0.277 | 0.305 | 0 | 0.002 | 0.000004 | 0.999787 | 1.355 | -0.78 | -1.84 | 0.102 | -0.9692 | 0.1057 | 0.00635 | 0.006693 | 0.138 | 0.248 | 0.582855 | 0.23691 | 0.540215 | 0.465733 | 0.024055 | -0.345405 | -0.529376 | 0.212055 | 0.835117 | 0.9981 | 0.95556 | 0.787694 | 0.999973 | 0.497415 | 0.59043 | 0.547309 | 0.542086 | 2.424378 | -0.10467 | 0.112755 | 4.68 | 1 | 1 | 0.991 | 11.7149 | 435 | 0.0826 | 0.98486 | 9 | 0.169833 | 0.139002 | 0.169833 | 0.139002 | 0.342 | 0.06616 | 0.231985 | -6.625 | 0.105749 | 0.117627 | -5.254158 | 0.022313 | 0.180842 | 0.085124 | 0.000376 | 0.0079 | 0.059537 | 0.185 | 0.157742 | 0.443 | 0.000052 |
NOTCH2 | L2210W | Benign | 0.003 | 0.156 | 0.998 | 0.908 | 0.009455 | 0.994079 | 0.345 | -1.77 | -2.6 | 0.485 | 0.2555 | 0.5853 | 0.481793 | 0.119608 | 0.486 | 0.349 | 0.760729 | 0.327012 | 0.794088 | 0.707715 | 0.40222 | 0.113254 | -0.075095 | 0.912346 | 0.868113 | 0.964349 | 0.93254 | 0.600206 | 1 | 0.706548 | 0.659912 | 0.724815 | 0.714379 | 3.563926 | 0.540424 | 0.519903 | 5.5 | 0.022 | 1 | 0.985 | 14.7917 | 832 | 0.1462 | 0.791025 | 26 | 0.141051 | 0.31838 | 0.141051 | 0.31838 | 0.835 | 0.0766 | 0.388244 | -6.589 | 0.256315 | 0.170795 | null | 0.793554 | 0.742559 | 0.527381 | 0.00027 | 0.1111 | 0.07275 | 0.175 | 0.285454 | 0.31 | null |
NOTCH2 | V1816A | Benign | 1 | 1 | 0.002 | 0.001 | 0.004156 | 0.688983 | -0.165 | -1.46 | 1.33 | 0.475 | -1.0873 | 0.0919 | 0.073241 | 0.019151 | 0.191 | 0.304 | 0.769746 | 0.211326 | 0.70478 | 0.610127 | 0.139158 | -0.039052 | -0.293872 | 0.375797 | 0.776522 | 0.585118 | 0.35419 | 0.1311 | 0.999603 | 0.706548 | 0.659912 | 0.724815 | 0.714379 | 1.580534 | -0.644701 | -0.430793 | 4.6 | 0 | 0.998 | 0.988 | 10.4241 | 823 | 0.0843 | 0.995118 | 16 | 0.040546 | 0.05592 | 0.040546 | 0.05592 | 0.416 | 0.07982 | 0.28466 | -2.567 | 0.088817 | 0.080943 | null | 0.550278 | 0.265347 | 0.250423 | 0.000063 | 0.0004 | 0.021304 | 0.115 | 0.089853 | 0.103 | null |
NOTCH2 | R1787W | Benign | 0 | 0 | 1 | 0.999 | 0.002381 | 1 | 3.285 | -2.13 | -7.49 | 0.814 | 0.7464 | 0.8113 | 0.872045 | 0.048639 | 0.61 | 0.361 | 0.885651 | 0.506422 | 1.565383 | 0.821158 | 0.802849 | 0.431301 | 0.381757 | 0.999055 | 0.988601 | 0.999335 | 0.89632 | 0.754285 | 1 | 0.706548 | 0.659912 | 0.724815 | 0.714379 | 4.361194 | 0.830106 | 0.785145 | 5.82 | 1 | 1 | 0.95 | 19.0775 | 823 | 0.8862 | 0.757477 | 43 | 0.646459 | 0.632128 | 0.646459 | 0.632128 | 0.921 | 0.67998 | 0.585899 | -14.156 | 0.239445 | 0.346067 | null | 0.98882 | 0.85236 | 0.852299 | 0.000419 | 0.2132 | 0.086643 | 0.461 | 0.607213 | 0.929 | null |
NOTCH2 | S359F | Benign | 0.032 | 0.001 | 0.015 | 0.01 | 0.002056 | 1 | 2.005 | -2.63 | -4.6 | 0.9 | -0.0337 | 0.5244 | 0.795552 | 0.214468 | 0.513 | 0.592 | 0.874152 | 0.949995 | 1.605699 | 0.748815 | 0.860281 | 0.15286 | -0.018203 | 0.985555 | 0.973153 | 0.998122 | 0.95765 | 0.871852 | 1 | 0.706298 | 0.670034 | 0.709663 | 0.714379 | 3.504933 | 0.175383 | 0.333518 | 4.81 | 1 | 1 | 0.994 | 13.561 | 861 | 0.6347 | 0.936137 | 35 | 0.313533 | 0.308131 | 0.313533 | 0.308131 | 0.783 | 0.77833 | 0.463376 | -10.956 | 0.371724 | null | null | 0.401059 | 0.907993 | 0.777436 | 0.000531 | 0.0056 | 0.040036 | 0.314 | 0.537586 | 0.932 | null |
GJA8 | G46A | Pathogenic | 0.002 | 0 | 1 | 1 | 0 | 1 | 2.815 | -5.4 | -5.64 | 0.885 | 1.0937 | 0.9754 | 0.974603 | 0.836368 | 0.922 | 0.744 | 0.962254 | 0.954752 | null | 0.861549 | 0.941872 | 0.407664 | 0.347804 | 0.998271 | 0.856914 | 0.997761 | 0.97064 | 0.931429 | 1 | 0.497415 | 0.59043 | 0.573078 | 0.542086 | 4.026035 | 0.877854 | 0.823658 | 4.9 | 1 | 1 | 0.982 | 18.046 | 952 | 0.6746 | 0.881448 | 24 | 0.818219 | 0.804113 | 0.818219 | 0.804113 | 0.4 | 0.83761 | 0.465297 | -12.066 | 0.563667 | 0.872833 | -9.165173 | 0.993789 | 0.915678 | 0.945814 | 0.000473 | 0.9742 | 0.37457 | 0.98 | 0.299424 | 0.859 | null |
GJA8 | V97G | Pathogenic | 0.001 | 0.001 | 0.998 | 0.882 | 0.000079 | 1 | 1.62 | -5.46 | -5.12 | 0.558 | 1.0826 | 0.9375 | 0.901687 | 0.835661 | 0.847 | 0.552 | 0.896515 | 0.962112 | null | 0.437117 | 0.931478 | 0.38717 | 0.318367 | 0.993808 | 0.89491 | 0.996962 | 0.95973 | 0.850103 | 0.984751 | 0.497415 | 0.59043 | 0.573078 | 0.542086 | 3.728702 | 0.523223 | 0.512709 | 5.2 | 1 | 1 | 0.65 | 10.3116 | 952 | 0.5942 | 0.84359 | 35 | 0.731768 | 0.729854 | 0.731768 | 0.729854 | 0.294 | 0.75079 | 0.579157 | -11.366 | 0.543703 | 0.559333 | -10.704228 | 0.988474 | 0.870755 | 0.720197 | 0.000476 | 0.0308 | 0.818823 | 0.906 | 0.307074 | 0.983 | null |
SF3B4 | A252V | Benign | 0.278 | 0.347 | 0.015 | 0.002 | 0.000311 | 0.999627 | 1.175 | 1.82 | 0.03 | 0.567 | -1.0957 | 0.0245 | 0.225863 | 0.007159 | 0.13 | 0.313 | 0.367259 | 0.078922 | 0.567158 | 0.739033 | 0.018364 | -0.089154 | -0.36584 | 0.912874 | 0.858914 | 0.99157 | 0.99512 | 0.853378 | 1 | 0.722319 | 0.672317 | 0.702456 | 0.735409 | 2.671126 | 0.009711 | 0.170494 | 4.85 | 1 | 1 | 0.999 | 15.0468 | 207 | 0.1207 | 0.923589 | 20 | 0.146423 | 0.123561 | 0.146423 | 0.123561 | 0.496 | 0.05899 | 0.308398 | -4.085 | 0.159451 | null | -4.589904 | 0.004755 | 0.315103 | 0.140728 | 0.000532 | 0.0111 | 0.092694 | 0.085 | 0.463101 | 0.408 | null |
ADAR | R1175G | Benign | 0.045 | 0.2 | 0.997 | 0.994 | 0.899008 | 0.639925 | 0.825 | -3.25 | -1.09 | 0.335 | 0.0496 | 0.6867 | 0.25418 | 0.191779 | 0.376 | 0.439 | 0.826837 | 0.253766 | 1.773526 | 0.42371 | 0.463364 | 0.115477 | -0.071902 | 0.532686 | 0.782222 | 0.998058 | 0.40388 | 0.197039 | 0.999999 | 0.722319 | 0.698795 | 0.724815 | 0.735409 | 3.513475 | -0.095015 | -0.048679 | 4.76 | 0.05 | 1 | 1 | 11.5686 | 489 | 0.1902 | 0.929214 | 19 | 0.132984 | 0.168654 | 0.132984 | 0.168654 | null | 0.13668 | 0.353761 | -5.484 | null | 0.147135 | null | 0.835931 | 0.745386 | 0.50447 | 0.0002 | 0.0147 | 0.185053 | 0.164 | 0.2433 | 0.178 | null |
ADAR | D973N | Benign | 0.01 | 0.011 | 1 | 1 | 0 | 1 | 2.34 | -3.21 | -1.61 | 0.725 | 0.8682 | 0.8707 | 0.672687 | 0.425394 | 0.623 | 0.446 | 0.922252 | 0.693525 | 1.944671 | 0.80561 | 0.646314 | 0.09573 | -0.100267 | 0.988782 | 0.968403 | 0.99934 | 0.97468 | 0.894493 | 1 | 0.706548 | 0.697927 | 0.697927 | 0.714379 | 4.223076 | 0.824142 | 0.812109 | 5.58 | 1 | 1 | 0.99 | 19.5563 | 496 | 0.9288 | 0.960425 | 19 | 0.426072 | 0.408038 | 0.426072 | 0.408038 | null | 0.71046 | 0.466383 | -10.125 | null | 0.643358 | null | 0.876969 | 0.951983 | 0.94526 | 0.000567 | 0.893 | 0.136704 | 0.833 | 0.558685 | 0.892 | null |
ADAR | G751E | Benign | 0.002 | 0.003 | 1 | 0.999667 | 0 | 1 | 3.995 | -1.71 | -6.31 | 0.737 | 0.7798 | 0.7873 | 0.929695 | 0.439478 | 0.889 | 0.776 | 0.920515 | 0.931328 | 2.286265 | 0.797197 | 0.895798 | 0.42856 | 0.37782 | 0.998804 | 0.930057 | 0.997833 | 0.99004 | 0.883225 | 1 | 0.706548 | 0.697927 | 0.724815 | 0.714379 | 4.175183 | 0.909095 | 0.820326 | 5.07 | 1 | 1 | 0.963 | 18.6376 | 506 | 0.9986 | 0.810088 | 54 | 0.839064 | 0.840238 | 0.839064 | 0.840238 | null | 0.88525 | 0.837957 | -15.183 | null | 0.645611 | null | 0.999423 | 0.925879 | 0.929454 | 0.00058 | 0.4613 | 0.685649 | 0.922 | 0.840587 | 0.812 | null |
ADAR | R633H | Benign | 0.098 | 0.127 | 0.999667 | 0.976667 | 0.000091 | 0.76573 | 1.505 | -1.09 | -0.78 | 0.316 | -0.4943 | 0.3055 | 0.363526 | 0.061901 | 0.339 | 0.541 | 0.769931 | 0.190848 | 0.946936 | 0.362346 | 0.39237 | 0.025754 | -0.185296 | 0.704287 | 0.939856 | 0.999455 | 0.68034 | 0.129604 | 0.963412 | 0.719381 | 0.702456 | 0.723133 | 0.714379 | 3.455582 | 0.480411 | 0.493718 | 4.3 | 0.983 | 1 | 0.969 | 3.518 | 509 | 0.1104 | 0.868879 | 36 | 0.054421 | 0.03537 | 0.054421 | 0.03537 | null | 0.57721 | 0.287472 | -4.945 | null | 0.145744 | null | 0.996901 | 0.142064 | 0.238554 | 0.000295 | 0.089 | 0.157095 | 0.098 | 0.347603 | 0.292 | 0.000008 |
ADAR | Y177H | Benign | 0 | 0 | 1 | 0.999333 | 0.025818 | 0.999998 | 2.94 | -0.22 | -2.17 | 0.782 | 0.0174 | 0.4472 | 0.879377 | 0.2549 | 0.538 | 0.681 | 0.765561 | 0.620921 | 1.015198 | 0.562709 | 0.538813 | 0.210515 | 0.064614 | 0.995671 | 0.872513 | 0.998502 | 0.9857 | 0.889316 | 1 | 0.722319 | 0.698795 | 0.702456 | 0.714379 | 4.150546 | 0.723269 | 0.631599 | 4.52 | 1 | 1 | 0.991 | 13.9522 | 513 | 0.5223 | 0.941308 | 88 | 0.95708 | 0.910542 | 0.95708 | 0.910542 | null | 0.73702 | 0.342557 | -8.901 | null | null | null | 0.999905 | 0.524092 | 0.450241 | 0.000565 | 0.1803 | 0.257013 | 0.377 | 0.663898 | 0.945 | null |
LMNA | R89C | Pathogenic | 0 | 0 | 1 | 0.995 | 0.000016 | 1 | 4.415 | -3.14 | -7.28 | 0.9692 | 1.0666 | 0.9187 | 0.980322 | 0.736412 | 0.907 | 0.834 | 0.975563 | 0.99495 | 2.424568 | 0.843541 | 0.989295 | 0.505923 | 0.488947 | 0.999814 | 0.999706 | 0.999297 | 0.94824 | 0.942512 | 1 | 0.733237 | 0.52208 | 0.600757 | 0.56214 | 4.626337 | 0.891765 | 0.773059 | 4.77 | 1 | 1 | 0.998 | 15.3387 | 423 | 0.9958 | 0.791488 | 96 | 0.895071 | 0.831663 | 0.89507 | 0.831663 | 0.987 | 0.69949 | 0.688449 | -12.915 | 0.581887 | 0.975853 | -11.557468 | 0.999967 | 0.973659 | 0.978609 | 0.000584 | 0.9957 | 0.954854 | 0.992 | 0.784174 | 0.888 | null |
LMNA | R349Q | Pathogenic | 0.0494 | 0.1244 | 0.83 | 0.659 | 0.003124 | 0.999999 | 2.885 | -2.79 | -3.37 | 0.8414 | 0.7117 | 0.7859 | 0.92935 | 0.506528 | 0.752 | 0.77 | 0.911645 | 0.954215 | 2.179942 | 0.762213 | 0.943881 | 0.265593 | 0.14373 | 0.967393 | 0.973403 | 0.999486 | 0.98088 | 0.969824 | 1 | 0.706548 | 0.702456 | 0.724815 | 0.711 | 3.98137 | 0.704034 | 0.702447 | 4.83 | 1 | 1 | 0.955 | 12.55 | 460 | 0.4287 | 0.993597 | 47 | 0.424948 | 0.350212 | 0.424948 | 0.350212 | 0.967 | 0.17523 | 0.486514 | -9.765 | 0.455626 | 0.235373 | -10.849989 | 0.999914 | 0.865234 | 0.957177 | 0.000553 | 0.4858 | 0.941959 | 0.884 | 0.467027 | 0.942 | 0.000004 |
TBX19 | E188K | Pathogenic | 0.001 | 0.003 | 0.97 | 0.717 | 0 | 1 | 3.115 | -2.49 | -3.85 | 0.829 | 0.8919 | 0.819 | 0.946112 | 0.111105 | 0.927 | 0.847 | 0.963983 | 0.829254 | 0.729176 | 0.863245 | 0.92766 | 0.351173 | 0.349525 | 0.993295 | 0.972903 | 0.999181 | 0.98553 | 0.892598 | 1 | 0.638212 | 0.670034 | 0.602189 | 0.421255 | 4.460984 | 0.823977 | 0.783112 | 5.02 | 1 | 1 | 0.998 | 17.9571 | 889 | 0.6108 | 0.779523 | 49 | 0.863156 | 0.812913 | 0.863156 | 0.812913 | 0.68 | 0.34249 | 0.621641 | -10.503 | 0.602094 | null | -11.73301 | 0.995981 | 0.771442 | 0.981753 | 0.00055 | 0.2044 | 0.852938 | 0.841 | 0.462055 | 0.94 | 0.000004 |
SLC19A2 | L422P | Pathogenic | 0 | 0.001 | 1 | 0.999 | 0.000001 | 1 | 3.73 | -2.83 | -6.78 | 0.99 | 0.9764 | 0.8704 | 0.960408 | 0.486048 | 0.911 | 0.84 | 0.949499 | 0.954786 | 0.911102 | 0.868021 | 0.890696 | 0.502611 | 0.48419 | 0.999337 | 0.907309 | 0.999241 | 0.99011 | 0.965054 | 1 | 0.706298 | 0.708844 | 0.709663 | 0.613276 | 4.282609 | 0.956022 | 0.888767 | 5.42 | 1 | 1 | 0.997 | 15.7558 | 697 | 0.9827 | 0.82132 | 79 | 0.966773 | 0.962232 | 0.966773 | 0.962232 | 0.794 | 0.99014 | 0.696823 | -14.88 | 0.773236 | 0.95556 | -12.746007 | 0.898559 | 0.945545 | 0.922207 | 0.000584 | 0.2265 | 0.926241 | 0.913 | 0.224593 | 0.951 | null |
SLC19A2 | T405R | Pathogenic | 0 | 0.006 | 1 | 1 | 0 | 1 | 3.57 | -2.78 | -5.99 | 0.973 | 0.9565 | 0.8877 | 0.947838 | 0.316217 | 0.927 | 0.829 | 0.966908 | 0.962023 | 0.757744 | 0.760594 | 0.900112 | 0.372258 | 0.478474 | 0.994173 | 0.942406 | 0.994977 | 0.9958 | 0.902137 | 1 | 0.706298 | 0.708844 | 0.709663 | 0.613276 | 4.036102 | 1.031951 | 0.976233 | 5.71 | 1 | 1 | 0.995 | 19.8579 | 693 | 0.9791 | 0.775813 | 70 | 0.950234 | 0.919745 | 0.950234 | 0.919745 | 0.656 | 0.98939 | 0.606651 | -14.889 | 0.824116 | 0.949926 | -16.866784 | 0.85582 | 0.788764 | 1 | 0.000581 | 0.192 | 0.46956 | 0.78 | 0.178981 | 0.931 | 0.000004 |
LHX4 | D39N | Benign | 0.001 | 0.003 | 1 | 0.998 | 0 | 1 | 3.085 | -2.32 | -4.51 | 0.849 | 0.7495 | 0.7892 | 0.952977 | 0.238102 | 0.745 | 0.835 | 0.914668 | 0.586846 | 0.927186 | 0.806917 | 0.855688 | 0.080905 | -0.121562 | 0.994252 | 0.965203 | 0.957196 | 0.99172 | 0.934147 | 1 | 0.554377 | 0.547309 | 0.602189 | 0.542086 | 4.289424 | 0.887953 | 0.847072 | 5.01 | 1 | 1 | 0.999 | 17.1084 | 724 | 0.984 | 0.753082 | 31 | 0.750079 | 0.6996 | 0.750079 | 0.6996 | 0.972 | 0.64412 | 0.418216 | -12.043 | 0.670094 | 0.759985 | -11.84018 | 0.934293 | 0.931568 | 0.947411 | 0.000556 | 0.0458 | 0.405282 | 0.78 | 0.515968 | 0.953 | null |
ASPM | G1645V | Benign | 0.033 | 0.022 | 1 | 0.997 | 0.249417 | 0.999896 | 3.68 | 0.88 | -4.37 | 0.454 | -0.3852 | 0.3104 | 0.642953 | 0.035328 | 0.345 | 0.77 | 0.490701 | 0.040648 | null | 0.343951 | 0.335059 | -0.020276 | -0.266901 | 0.94873 | 0.854315 | 0.995681 | 0.93923 | 0.1949 | 0.005671 | 0.706548 | 0.653731 | 0.724815 | 0.714379 | 2.76784 | 0.440847 | 0.289011 | 1.96 | 0.014 | 0.939 | 0.998 | 11.0616 | 176 | 0.3136 | 0.886648 | 66 | 0.261639 | 0.326519 | 0.261639 | 0.326519 | 0.39 | 0.82999 | 0.539658 | -9.481 | 0.35686 | 0.554678 | null | 0.00685 | 0.172883 | 0.091249 | 0.000276 | 0.0151 | null | 0.269 | 0.184003 | 0.795 | null |
CENPF | Q2549K | Benign | 0.172 | 0.045 | null | null | 0.079233 | 1 | null | 3.98 | -1.59 | 0.372 | -1.0165 | 0.0136 | 0.063963 | 0.008758 | 0.032 | null | 0.204665 | 0.07476 | 0.120783 | 0.296249 | null | -0.51607 | -0.622698 | 0.038345 | 0.710429 | 0.942022 | 0.70095 | 0.115947 | 0.829913 | 0.706548 | 0.724815 | 0.724815 | 0.714379 | 1.637083 | -0.252159 | -0.268475 | 2.03 | 0.852 | 1 | 0.59 | 10.841 | 902 | 0.0805 | null | 20 | 0.057576 | 0.083184 | 0.057576 | 0.083184 | null | 0.09135 | 0.256518 | -3.179 | 0.121106 | null | null | 0.001855 | 0.065566 | 0.04596 | 0.000159 | 0.0001 | null | 0.043 | 0.041328 | 0.139 | 0.000291 |
RAB3GAP2 | R426H | Pathogenic | 0 | 0.004 | 1 | 1 | 0 | 1 | 3.015 | -1.49 | -4.51 | 0.964 | 0.3233 | 0.6431 | 0.935483 | 0.185187 | 0.797 | null | 0.923096 | 0.851934 | 0.697569 | 0.590183 | 0.584302 | 0.306151 | 0.388526 | 0.891274 | 0.982402 | 0.999321 | 0.99168 | 0.841846 | 1 | 0.732398 | 0.724815 | 0.709663 | 0.727631 | 3.846528 | 0.678352 | 0.642 | 5.69 | 1 | 1 | 0.512 | 19.7949 | 440 | 0.9747 | 0.776255 | 53 | 0.62968 | 0.605423 | 0.62968 | 0.605423 | 0.43 | 0.82086 | 0.578924 | -11.268 | 0.306061 | 0.921282 | null | 0.322425 | 0.749273 | 0.94263 | 0.000581 | 0.0969 | 0.070301 | 0.805 | 0.465595 | 0.865 | 0.00004 |
RAB3GAP2 | A240P | Pathogenic | 0 | 0 | 1 | 0.992 | 0 | 1 | 1.98 | 1.23 | -3.59 | 0.837 | -0.6101 | 0.3266 | 0.772575 | 0.045146 | 0.426 | null | 0.422873 | 0.717006 | 0.712085 | 0.64396 | 0.310855 | 0.125708 | 0.124323 | 0.886937 | 0.910609 | 0.997564 | 0.98713 | 0.913022 | 1 | 0.732398 | 0.743671 | 0.743671 | 0.714379 | 3.979299 | 0.457928 | 0.548422 | 5.53 | 1 | 1 | 0.948 | 19.8304 | 447 | 0.9812 | 0.856094 | 15 | 0.941522 | 0.926087 | 0.941522 | 0.926087 | 0.465 | 0.68051 | 0.324532 | -14.842 | 0.503049 | 0.893319 | null | 0.189284 | 0.360614 | 0.139275 | 0.000556 | 0.4778 | 0.165247 | 0.86 | 0.369828 | 0.863 | 0.000016 |
PXDN | N964K | Benign | 0.357 | 0.709 | 0.155 | 0.171 | 0.000511 | 0.000726 | 1.19 | -0.72 | -2.36 | 0.721 | -0.837 | 0.1919 | 0.733505 | 0.061941 | 0.105 | 0.374 | 0.395894 | 0.546048 | 0.894401 | 0.777881 | 0.030651 | -0.079413 | -0.351848 | 0.675535 | 0.915808 | 0.970181 | 0.88929 | 0.523448 | 0.998177 | 0.706548 | 0.573888 | 0.724815 | 0.714379 | 2.006617 | -0.682152 | -0.57006 | -0.314 | 0.934 | 0 | 0.944 | 10.616 | 804 | 0.3494 | 0.90803 | 8 | 0.058798 | 0.078535 | 0.058798 | 0.078535 | 0.726 | 0.26405 | 0.240233 | -9.015 | 0.201536 | 0.34413 | null | 0.001395 | 0.362052 | 0.202686 | 0.000415 | 0.0015 | 0.024212 | 0.106 | 0.278022 | 0.08 | null |
SOX11 | H109Y | Pathogenic | 0 | 0 | 0.996 | 0.997 | 0.000001 | 1 | 1.675 | -2.65 | -5.97 | 0.871 | 0.7966 | 0.8135 | 0.905082 | 0.633039 | 0.826 | 0.63 | 0.960144 | 0.996418 | 2.451855 | 0.949502 | 0.83732 | 0.291033 | 0.180272 | 0.99687 | 0.988601 | 0.996505 | 0.73174 | 0.72014 | 1 | 0.59774 | 0.563428 | 0.52208 | 0.63947 | 3.922173 | 0.536979 | 0.431225 | 2.82 | 1 | 1 | 0.996 | 14.0543 | 985 | 0.9995 | 0.856592 | 90 | 0.974569 | 0.96212 | 0.974569 | 0.96212 | 0.836 | 0.95386 | 0.692652 | -13.62 | 0.684259 | 0.974779 | -14.980247 | 0.962828 | 0.964525 | 0.950169 | 0.000573 | 0.835 | 0.996865 | 0.893 | 0.843082 | 0.858 | null |
MATN3 | A7V | Benign | 0.012 | 0.4385 | 0.002 | 0 | 0.691625 | 1 | 0.55 | -1.01 | -0.195 | 0.0475 | -0.9105 | 0.2243 | 0.083256 | 0.052078 | 0.153 | 0.125 | 0.602507 | 0.371166 | 0.183075 | 0.80025 | 0.034004 | -0.108131 | -0.393099 | 0.087273 | 0.547445 | 0.993627 | 0.01409 | 0.031789 | 0.999999 | 0.652421 | 0.596491 | 0.64067 | 0.604282 | 1.245711 | -1.101612 | -1.157641 | 0.999 | 0 | 0 | 0.261 | 3.9765 | 915 | 0.192 | 1.01854 | 19 | 0.03083 | 0.043822 | 0.03083 | 0.043822 | 0.024 | 0.02453 | 0.333334 | -5.684 | 0.106157 | null | -5.691209 | 0.911611 | 0.074411 | 0.147657 | 0.000136 | 0.0004 | 0.048639 | 0.025 | 0.013069 | 0.402 | null |
DNMT3A | G298R | Pathogenic | 0 | 0.001 | 1 | 1 | 0 | 1 | 3.195 | -0.74 | -6.39 | 0.99 | 0.4444 | 0.6411 | 0.974812 | 0.229399 | 0.887 | 0.89 | 0.885072 | 0.990691 | 2.26551 | 0.921696 | 0.888306 | 0.404172 | 0.342788 | 0.998245 | 0.990301 | 0.999337 | 0.98867 | 0.915141 | 1 | 0.706548 | 0.724815 | 0.702456 | 0.714379 | 3.985674 | 0.8802 | 0.814821 | 4.97 | 1 | 1 | 1 | 16.948 | 535 | 0.9998 | 0.752854 | 89 | 0.991863 | 0.973498 | 0.991863 | 0.973498 | 0.954 | 0.95282 | 0.713012 | -11.117 | 0.686848 | 0.642874 | -11.911752 | 0.814383 | 0.826594 | 0.903413 | 0.000578 | 0.1154 | 0.997181 | 0.999 | 0.416725 | 0.987 | null |
OTOF | G524R | Benign | 0.001 | 0.002 | 1 | 0.999 | 0.000001 | 1 | 2.75 | -1.4 | -7.39 | 0.8675 | 0.5791 | 0.713 | 0.867665 | 0.178635 | 0.771 | 0.368 | 0.935273 | 0.837846 | 0.71979 | 0.892986 | 0.616528 | 0.240482 | 0.401146 | 0.96677 | 0.981335 | 0.999322 | 0.97678 | 0.926289 | 1 | 0.403107 | 0.547309 | 0.578056 | 0.613276 | 4.174445 | 0.842506 | 0.78066 | 5.13 | 1 | 1 | 0.975 | 18.1792 | 427 | 0.8894 | 0.808044 | 17 | 0.806829 | 0.900836 | 0.806829 | 0.900836 | 0.937 | 0.9836 | 0.467959 | -10.096 | 0.393852 | 0.628474 | null | 0.918351 | 0.531723 | 0.757993 | 0.000548 | 0.6684 | 0.1545 | 0.991 | 0.220726 | 0.929 | 0.00012 |
SOS1 | T828A | Benign | 0.017 | 0.007 | 0.228 | 0.239 | 0.000007 | 1 | 1.075 | 1.58 | -3.54 | 0.761667 | -1.0083 | 0.1017 | 0.746142 | 0.021463 | 0.426 | 0.743 | 0.819183 | 0.726957 | 1.421378 | 0.871117 | 0.499085 | 0.147236 | -0.026283 | 0.973434 | 0.984598 | 0.994157 | 0.98795 | 0.848654 | 1 | 0.732398 | 0.708844 | 0.65145 | 0.727631 | 3.255563 | 0.261215 | 0.387442 | 5.61 | 1 | 1 | 0.981 | 15.8443 | 473 | 0.9058 | 0.845504 | 65 | 0.713888 | 0.66254 | 0.713888 | 0.662539 | 0.632 | 0.8486 | 0.488682 | -9.814 | null | 0.812322 | null | 0.996842 | 0.673895 | 0.624487 | 0.000578 | 0.0584 | 0.705908 | 0.598 | 0.700759 | 0.879 | null |
SOS1 | I733M | Pathogenic | 0.033 | 0.033667 | 0.995 | 0.999 | 0 | 0.999999 | 2.15 | 1.51 | -2.196667 | 0.711 | -0.8887 | 0.1602 | 0.774455 | 0.034315 | 0.403 | 0.494 | 0.670115 | 0.749157 | 1.547654 | 0.742711 | 0.519731 | 0.111993 | -0.076906 | 0.906932 | 0.971203 | 0.996878 | 0.94217 | 0.411766 | 0.877298 | 0.732398 | 0.743671 | 0.65145 | 0.727631 | 3.142202 | 0.351268 | 0.318318 | 4.07 | 1 | 1 | 0.997 | 9.019 | 470 | 0.6955 | 0.844984 | 30 | 0.747045 | 0.40728 | 0.747045 | 0.40728 | 0.737 | 0.38118 | 0.439421 | -10.652 | null | 0.701403 | null | 0.98801 | 0.280154 | 0.659704 | 0.000548 | 0.163 | 0.571028 | 0.898 | 0.49212 | 0.144 | null |
SOS1 | G386C | Benign | 0.050333 | 0.029 | 0.974 | 0.904 | 0 | 0.997905 | 0.69 | -0.04 | -0.62 | 0.371667 | -0.8345 | 0.1706 | 0.293143 | 0.030769 | 0.249 | 0.57 | 0.44906 | 0.415502 | 1.260615 | 0.707334 | 0.29228 | 0.000399 | -0.237203 | 0.85114 | 0.963454 | 0.991054 | 0.93874 | 0.773121 | 0.996639 | 0.643511 | 0.633656 | 0.658983 | 0.631631 | 3.605126 | 0.315108 | 0.385264 | 3.85 | 1 | 1 | 0.998 | 4.2628 | 464 | 0.1413 | 0.875245 | 22 | 0.566674 | 0.16241 | 0.566674 | 0.16241 | 0.805 | 0.23046 | 0.396822 | -8.514 | null | 0.106389 | null | 0.982111 | 0.215351 | 0.11982 | 0.000511 | 0.1482 | 0.56445 | 0.416 | 0.469528 | 0.82 | null |
SIX3 | W253R | Pathogenic | 0 | 0.001 | 1 | 1 | 0.000002 | 1 | 4.955 | -6.63 | -13.58 | 0.969 | 0.9612 | 0.9929 | 0.987446 | 0.764999 | 0.94 | 0.878 | 0.997394 | 0.996754 | 2.861817 | 0.947694 | 0.97927 | 0.570468 | 0.581662 | 0.999945 | 0.968103 | 0.992961 | 0.95736 | 0.887695 | 1 | 0.59774 | 0.563428 | 0.666236 | 0.63947 | 4.590724 | 0.72259 | 0.534136 | 3.58 | 1 | 1 | 0.999 | 11.9816 | 749 | 1 | 0.759519 | 99 | 0.96799 | 0.957854 | 0.96799 | 0.957854 | 0.878 | 0.99302 | 0.876306 | -10.989 | 0.868982 | 0.960634 | -14.267139 | 0.999845 | 0.989756 | 0.86953 | 0.000586 | 0.9664 | 0.956773 | 0.875 | 0.944709 | 0.965 | null |
ST3GAL5 | G235R | Pathogenic | null | null | 1 | 1 | 0 | 1 | 3.875 | null | null | null | 0.9342 | 0.858 | 0.990871 | 0.394666 | null | 0.96 | null | 0.972919 | null | 0.809206 | 0.751581 | 0.458744 | 0.421177 | 0.999725 | 0.974603 | 0.999402 | 0.98568 | 0.896408 | 1 | 0.615465 | 0.633656 | 0.658983 | 0.553451 | 4.835291 | 0.987567 | 0.919196 | 5.65 | 1 | 1 | 0.997 | 18.7095 | 307 | 0.9811 | 0.767701 | 35 | 0.972658 | 0.941084 | 0.972658 | 0.941084 | 0.951 | 0.87245 | 0.829895 | -10.255 | 0.75728 | 0.982657 | -11.628602 | 0.518436 | 0.93297 | 0.958647 | 0.000583 | 0.6813 | 0.984604 | 0.966 | 0.695127 | 0.944 | null |
EIF2AK3 | E994Q | Pathogenic | 0 | 0 | 1 | 0.999 | 0 | 1 | 2.365 | 0.06 | -2.99 | 0.893 | 0.2386 | 0.5665 | 0.978469 | 0.094466 | 0.631 | 0.95 | 0.92827 | 0.920494 | 1.101355 | 0.690952 | 0.494432 | 0.347319 | 0.261123 | 0.992864 | 0.9951 | 0.998194 | 0.99601 | 0.88501 | 1 | 0.706548 | 0.702456 | 0.724815 | 0.714379 | 3.97763 | 1.016581 | 0.970899 | 6.04 | 1 | 1 | 0.998 | 20.5948 | 833 | 0.9461 | 0.672361 | 93 | 0.76318 | 0.710234 | 0.76318 | 0.710234 | 0.88 | 0.73647 | 0.758875 | -9.022 | 0.593151 | null | null | 0.996794 | 0.639103 | 0.921848 | 0.00058 | 0.5216 | 0.975966 | 0.848 | 0.692921 | 0.942 | null |
EIF2AK3 | E488K | Pathogenic | 0.05 | 0.649 | 0.501 | 0.118 | 0.000285 | 0.991666 | 0.55 | -0.6 | -1.1 | 0.525 | -0.4699 | 0.331 | 0.287835 | 0.022235 | 0.19 | 0.361 | 0.886977 | 0.832394 | 0.396604 | 0.65078 | 0.210758 | 0.041052 | -0.178808 | 0.492786 | 0.957904 | 0.998677 | 0.97749 | 0.574901 | 0.9996 | 0.706548 | 0.724815 | 0.608884 | 0.635551 | 2.623079 | 0.284489 | 0.409705 | 5.73 | 1 | 1 | 0.96 | 19.9133 | 848 | 0.1199 | 0.898285 | 24 | 0.105558 | 0.104688 | 0.105558 | 0.104688 | 0.675 | 0.34207 | 0.256736 | -4.289 | 0.124417 | null | null | 0.930519 | 0.599863 | 0.84382 | 0.000569 | 0.2264 | 0.619631 | 0.942 | 0.671699 | 0.918 | null |
PAX8 | I378V | Benign | 1 | 1 | 0.699 | 0.768 | 0.000003 | 0.999972 | -0.205 | 1.74 | 0.34 | 0.241 | -1.1028 | 0.0734 | 0.141775 | 0.053126 | 0.145 | 0.192 | 0.25283 | 0.32136 | 0.233742 | 0.779377 | 0.176902 | -0.163349 | -0.472416 | 0.945823 | 0.889511 | 0.981077 | 0.81178 | 0.387761 | 1 | 0.706298 | 0.709663 | 0.602189 | 0.586402 | 2.436842 | 0.206717 | 0.284387 | 5.3 | 1 | 1 | 1 | 13.4837 | 612 | 0.1662 | 1.01115 | 15 | 0.064097 | 0.080944 | 0.064097 | 0.080944 | 0.452 | 0.01037 | 0.196467 | -4.86 | 0.083924 | 0.11753 | -3.570166 | 0.027388 | 0.027024 | 0.496845 | 0.000443 | 0.014 | 0.038088 | 0.098 | 0.023918 | 0.444 | null |
PAX8 | D200G | Benign | 0.0462 | 0.1246 | 0.7288 | 0.5264 | 0.00008 | 1 | 1.75 | -4.384 | -3.05 | 0.2684 | 0.545 | 0.9384 | 0.406685 | 0.346751 | 0.536 | 0.159 | 0.825072 | 0.670017 | 0.238913 | 0.648126 | 0.702002 | 0.226809 | 0.088018 | 0.979714 | 0.928032 | 0.997938 | 0.87461 | 0.784684 | 1 | 0.580535 | 0.550933 | 0.576033 | 0.631631 | 4.561714 | 0.298636 | 0.365875 | 4.92 | 1 | 1 | 0.996 | 12.8273 | 623 | 0.2824 | 0.892448 | 18 | 0.352864 | 0.35015 | 0.352864 | 0.35015 | 0.94 | 0.09346 | 0.312903 | -4.455 | 0.15346 | null | -6.945353 | 0.594697 | 0.446405 | 0.513708 | 0.000447 | 0.0555 | 0.366081 | 0.225 | 0.100041 | 0.534 | null |
PAX8 | R133Q | Pathogenic | 0.003 | 0.0116 | 0.9994 | 0.9702 | 0 | 1 | 3.845 | -6.32 | -3.588 | 0.9786 | 1.0081 | 0.9895 | 0.991027 | 0.971655 | 0.937 | 0.915 | 0.998012 | 0.932861 | 2.027743 | 0.784457 | 0.951724 | 0.586604 | 0.60484 | 0.9972 | 0.965853 | 0.999455 | 0.94574 | 0.865315 | 1 | 0.421363 | 0.550933 | 0.547309 | 0.714379 | 4.310106 | 0.6578 | 0.564061 | 4.43 | 1 | 1 | 0.998 | 11.7547 | 627 | 0.9989 | 0.776056 | 40 | 0.857904 | 0.771799 | 0.854885 | 0.782872 | 0.787 | 0.89665 | 0.662818 | -15.351 | 0.767477 | 0.669324 | -14.478821 | 0.927449 | 0.988633 | 0.991284 | 0.000583 | 0.0591 | 0.919176 | 0.55 | 0.382779 | 0.818 | null |
GLI2 | R131H | Benign | 0.001 | 0.002 | 1 | 0.991 | 0 | 0.999999 | 2.465 | 0.79 | -4.34 | 0.606 | -0.3711 | 0.3256 | 0.635137 | 0.041196 | 0.372 | null | 0.758012 | 0.613228 | 1.061872 | 0.472011 | 0.848465 | -0.231677 | -0.2385 | 0.923239 | 0.968603 | 0.999567 | 0.98955 | 0.950887 | 1 | 0.695654 | 0.59043 | 0.723109 | 0.542086 | 4.472082 | 0.85739 | 0.828164 | 5.08 | 1 | 1 | 0.984 | 18.6568 | 693 | 0.1642 | 0.939159 | 47 | 0.567297 | 0.427731 | 0.567297 | 0.427731 | 0.717 | 0.29301 | 0.449741 | -3.476 | 0.211175 | null | null | 0.99707 | 0.372969 | 0.586083 | 0.000575 | 0.0213 | 0.0744 | 0.804 | 0.379072 | 0.052 | 0.000247 |
GLI2 | C510Y | Pathogenic | 0 | 0 | 1 | 0.999 | 0 | 1 | 3.49 | -2.04 | -10.85 | 0.903 | 0.8628 | 0.8111 | 0.992089 | 0.584038 | 0.91 | 0.942 | 0.961569 | 0.991972 | 1.416842 | 0.882112 | 0.95813 | 0.476331 | 0.44644 | 0.999847 | 0.944006 | 0.997716 | 0.98373 | 0.958473 | 1 | 0.718356 | 0.610034 | 0.570548 | 0.542086 | 4.290566 | 0.926317 | 0.834373 | 4.39 | 1 | 1 | 0.991 | 17.4864 | 697 | 0.9996 | 0.694223 | 98 | 0.955783 | 0.904557 | 0.955783 | 0.904557 | 0.92 | 0.95529 | 0.865508 | -12.781 | 0.832972 | null | null | 0.997128 | 0.438558 | 0.870692 | 0.000586 | 0.3876 | 0.026448 | 0.633 | 0.602208 | 0.847 | null |
GLI2 | P840T | Benign | 0.402 | 0.033 | 0.799 | 0.343 | 0.000188 | 0.69453 | 1.935 | -2.55 | -2.05 | 0.105 | 0.51 | 0.7016 | 0.511215 | 0.888989 | 0.301 | 0.138 | 0.737527 | 0.377669 | 1.133748 | 0.796137 | 0.442786 | 0.313871 | 0.213078 | 0.976535 | 0.879912 | 0.993702 | 0.99219 | 0.732609 | 1 | 0.695654 | 0.59043 | 0.723109 | 0.613276 | 2.20186 | 0.406149 | 0.436122 | 4.58 | 1 | 1 | 0.823 | 17.587 | 697 | 0.1099 | 0.969412 | 25 | 0.193309 | 0.123949 | 0.193309 | 0.123949 | 0.485 | 0.04592 | 0.58448 | -2.212 | 0.146911 | null | null | 0.996317 | 0.620413 | 0.3461 | 0.000561 | 0 | 0.006512 | 0.249 | 0.112302 | 0.743 | null |
LCT | Q423R | Benign | 0.129 | 0.737 | 0.003 | 0.006 | 0.518656 | 1 | -0.235 | 1.45 | -0.25 | 0.098 | -1.0197 | 0.0341 | 0.056878 | 0.00268 | 0.029 | null | 0.173772 | 0.466119 | 0.670773 | 0.313088 | 0.191564 | -0.355002 | -0.747712 | 0.057278 | 0.455954 | 0.330824 | 0.46273 | 0.207193 | 0.994455 | 0.497415 | 0.547309 | 0.547309 | 0.542086 | 0.621536 | -1.17897 | -1.146325 | -2.49 | 0.009 | 0 | 0.012 | 2.7281 | 240 | 0.0698 | 1.01925 | 27 | 0.03704 | 0.037519 | 0.03704 | 0.037519 | 0.023 | 0.05911 | 0.242271 | -3.472 | 0.084224 | null | null | 0.027674 | 0.202617 | 0.01567 | 0.000033 | 0.0004 | 0.011758 | 0.04 | 0.01754 | 0.038 | null |
LCT | Q423K | Benign | 0.237 | 1 | 0.005 | 0.02 | 0.518656 | 1 | -0.43 | 1.51 | -0.25 | 0.305 | -1.0512 | 0.0412 | 0.084427 | 0.00421 | 0.082 | null | 0.25004 | 0.540356 | 0.798411 | 0.316151 | 0.193213 | -0.300971 | -0.670101 | 0.053687 | 0.539146 | 0.444599 | 0.44023 | 0.180432 | 0.995045 | 0.497415 | 0.547309 | 0.547309 | 0.542086 | 0.631226 | -0.890345 | -0.798024 | 2.64 | 0.026 | 0 | 0.013 | 10.5132 | 240 | 0.0698 | 1.01479 | 21 | 0.058853 | 0.050291 | 0.058853 | 0.050291 | 0.048 | 0.08349 | 0.242271 | -3.632 | 0.126603 | null | null | 0.036398 | 0.360897 | 0.086891 | 0.000106 | 0.0004 | 0.012008 | 0.081 | 0.0841 | 0.029 | null |
ZEB2 | S1071L | Pathogenic | 0 | 0 | 0.997 | 0.968 | 0 | 1 | 1.04 | 2.39 | -5.15 | 0.706667 | -0.9845 | 0.1319 | 0.597917 | 0.047543 | 0.441 | 0.259 | 0.497462 | 0.90064 | 1.458125 | 0.892085 | 0.670423 | 0.083883 | -0.117285 | 0.98569 | 0.90426 | 0.999127 | 0.98623 | 0.947514 | 1 | 0.562547 | 0.588015 | 0.503968 | 0.635551 | 4.746252 | 0.905212 | 0.895099 | 5.51 | 1 | 1 | 0.999 | 19.7945 | 838 | 0.9894 | 0.782896 | 25 | 0.859511 | 0.848789 | 0.859511 | 0.848789 | 0.787 | 0.50174 | 0.726468 | -15.526 | 0.734661 | 0.920648 | null | 0.988036 | 0.24146 | 0.527614 | 0.000568 | 0.7186 | 0.1369 | 0.998 | 0.736886 | 0.963 | null |
ZEB2 | S1067L | Pathogenic | 0 | 0 | 0.997 | 0.968 | 0 | 1 | 1.04 | 3.02 | -5.11 | 0.748333 | -1.1521 | 0.0795 | 0.590705 | 0.061568 | 0.462 | 0.221 | 0.444421 | 0.845754 | 1.764298 | 0.924552 | 0.667843 | 0.099843 | -0.094359 | 0.972653 | 0.918408 | 0.999151 | 0.98623 | 0.948963 | 1 | 0.706548 | 0.588015 | 0.503968 | 0.714379 | 4.750234 | 0.905212 | 0.895099 | 5.51 | 1 | 1 | 0.999 | 19.7945 | 838 | 0.9973 | 0.816336 | 30 | 0.842279 | 0.813295 | 0.842279 | 0.813295 | 0.924 | 0.50263 | 0.765952 | -16.255 | 0.680457 | 0.916126 | null | 0.98535 | 0.227335 | 0.597927 | 0.000568 | 0.4529 | 0.110167 | 0.985 | 0.725551 | 0.974 | null |
ZEB2 | R1063P | Pathogenic | 0 | 0.003 | 0.999 | 0.998 | 0 | 1 | 1.335 | 3.19 | -5.81 | 0.871333 | -1.1906 | 0.0706 | 0.717168 | 0.032648 | 0.52 | 0.314 | 0.592836 | 0.992512 | 3.043661 | 0.957104 | 0.707751 | 0.221809 | 0.080837 | 0.992153 | 0.90281 | 0.998241 | 0.98341 | 0.981683 | 1 | 0.706548 | 0.588015 | 0.503968 | 0.714379 | 4.523027 | 0.814311 | 0.812839 | 5.51 | 1 | 1 | 0.999 | 19.7945 | 844 | 0.9979 | 0.772123 | 50 | 0.961198 | 0.957303 | 0.961198 | 0.957303 | 0.841 | 0.76982 | 0.526953 | -17.066 | 0.751581 | 0.833717 | null | 0.991593 | 0.499191 | 0.405869 | 0.00056 | 0.8235 | 0.216638 | 0.986 | 0.730933 | 0.974 | null |
ZEB2 | R302Q | Benign | 0 | 0 | 0.997 | 0.979 | 0 | 1 | 1.48 | 1.84 | -3.77 | 0.905 | -0.858 | 0.1661 | 0.887894 | 0.072862 | 0.588 | 0.775 | 0.473349 | 0.811483 | 1.881296 | 0.919885 | 0.601622 | 0.213003 | 0.068187 | 0.997114 | 0.924808 | 0.999531 | 0.98487 | 0.934938 | 1 | 0.706548 | 0.610034 | 0.547309 | 0.714379 | 4.340457 | 0.789267 | 0.776305 | 5.34 | 1 | 1 | 0.999 | 19.0474 | 814 | 0.9882 | 0.855027 | 56 | 0.804306 | 0.711711 | 0.804306 | 0.711711 | 0.862 | 0.64901 | 0.692065 | -14.434 | 0.806148 | 0.924598 | null | 0.961104 | 0.798544 | 0.834632 | 0.000573 | 0.2247 | 0.66779 | 0.989 | 0.685584 | 0.929 | null |
IFIH1 | C962R | Benign | 0 | 0 | 1 | 1 | 0 | 1 | 3.33 | -1.1 | -7.69 | 0.861 | 0.5648 | 0.6852 | 0.859613 | 0.17225 | 0.879 | 0.636 | 0.908358 | 0.940117 | 0.242999 | 0.685923 | 0.394913 | 0.426287 | 0.374555 | 0.99909 | 0.532847 | 0.99752 | 0.99365 | 0.909135 | 1 | 0.706548 | 0.724815 | 0.653264 | 0.655142 | 4.200071 | 0.814234 | 0.74195 | 5.18 | 1 | 1 | 0.975 | 15.2013 | 403 | 0.9879 | 0.596873 | 85 | 0.98765 | 0.984131 | 0.98765 | 0.984131 | 0.9 | 0.97577 | 0.849734 | -6.538 | 0.590099 | 0.713384 | null | 0.98966 | 0.707639 | 0.697923 | 0.000581 | 0.0255 | 0.835423 | 0.962 | 0.041185 | 0.918 | null |
IFIH1 | A82T | Benign | 0.003 | 0.0095 | 0.999333 | 0.944 | 0.000001 | 0.999429 | 2.91 | 3.02 | -2.425 | 0.5185 | -1.1584 | 0.0795 | 0.375887 | 0.012994 | 0.137 | 0.385 | 0.730847 | 0.762641 | 0.198844 | 0.500459 | 0.123811 | -0.072605 | -0.342068 | 0.985053 | 0.818252 | 0.999348 | 0.88166 | 0.3646 | 1 | 0.652421 | 0.52208 | 0.64067 | 0.604282 | 3.261267 | 0.623691 | 0.570959 | 5.43 | 0.995 | 1 | 0.504 | 19.5984 | 547 | 0.4533 | 0.848601 | 47 | 0.328648 | 0.389635 | 0.328648 | 0.389635 | 0.433 | 0.48882 | 0.521248 | -8.084 | 0.425634 | 0.743096 | null | 0.015476 | 0.065582 | 0.217661 | 0.000402 | 0.107 | 0.37068 | 0.57 | 0.022921 | 0.397 | null |
SCN2A | I172S | Pathogenic | 0 | 0.0002 | 0.9885 | 0.8995 | 0.000099 | 0.999997 | 3.82 | -5.11 | -5.135 | 0.8435 | 1.0865 | 0.9729 | 0.893407 | 0.580226 | 0.905 | 0.628 | 0.948046 | 0.991028 | null | 0.687397 | 0.962692 | 0.454115 | 0.414528 | 0.996556 | 0.956104 | 0.992076 | 0.97864 | 0.755755 | 0.999996 | 0.487112 | 0.573888 | 0.573888 | 0.564101 | 4.015963 | 0.816671 | 0.76396 | 5.57 | 1 | 1 | 1 | 16.0204 | 719 | 0.8112 | 0.817103 | 59 | 0.945397 | 0.885388 | 0.945397 | 0.885388 | 0.585 | 0.75145 | 0.522609 | -13.786 | 0.695675 | 0.62969 | null | 0.992514 | 0.914618 | 0.883112 | 0.00057 | 0.7224 | 0.995944 | 0.756 | 0.792892 | 0.794 | null |
HOXD13 | R307Q | Benign | 0.036 | 0.053 | 0.978 | 0.88 | 0.000072 | 1 | 0.25 | -3.79 | -3.42 | 0.553 | 0.8562 | 0.8581 | 0.687932 | 0.145849 | 0.644 | 0.351 | 0.92945 | 0.571435 | null | 0.838695 | 0.917859 | 0.253245 | 0.125992 | 0.993287 | 0.980702 | 0.999551 | 0.96766 | 0.909017 | 1 | 0.59774 | 0.616487 | 0.596491 | 0.526665 | 4.456669 | 0.695145 | 0.720443 | 4.84 | 1 | 1 | 0.996 | 18.5076 | 753 | 0.8945 | 0.842705 | 56 | 0.564525 | 0.522408 | 0.564525 | 0.522408 | 0.629 | 0.64753 | 0.392224 | -11.582 | 0.534458 | 0.54017 | -9.860421 | 0.919653 | 0.721274 | 0.854779 | 0.000501 | 0.9096 | 0.467094 | 0.49 | 0.356785 | 0.898 | null |
COL3A1 | G1095D | Pathogenic | 0.001 | 0.001 | 1 | 1 | 0.000072 | 1 | 4.715 | -5.77 | -6.55 | 0.976 | 0.9562 | 0.9902 | 0.994969 | 0.976304 | 0.995 | 0.967 | 0.995954 | 0.999968 | 1.866798 | 0.893959 | 0.964331 | 0.567585 | 0.57752 | 0.999705 | 0.986301 | 0.998527 | 0.99423 | 0.981059 | 1 | 0.553676 | 0.573888 | 0.618467 | 0.567892 | 4.115649 | 1.125927 | 1.001491 | 5.22 | 1 | 1 | 0.648 | 18.782 | 839 | 0.9958 | 0.686276 | 94 | 0.969428 | 0.960186 | 0.96406 | 0.962362 | 0.783 | 0.96983 | 0.649896 | -14.679 | 0.786699 | 0.704013 | null | 0.997053 | 0.972456 | 0.998837 | 0.000585 | 0.9844 | 0.992411 | 0.997 | 0.891773 | 0.977 | null |
COL3A1 | P1270R | Benign | 0.001 | 0.001 | 0.993 | 0.966 | 0.002841 | 0.999999 | 3.485 | -0.97 | -7.49 | 0.626 | 0.2806 | 0.6373 | 0.752868 | 0.102905 | 0.664 | 0.547 | 0.73183 | 0.610973 | 0.217422 | 0.620406 | 0.819481 | 0.176417 | 0.07928 | 0.989889 | 0.873413 | 0.997116 | 0.99043 | 0.984845 | 1 | 0.554377 | 0.573888 | 0.573888 | 0.567892 | 4.146594 | 0.889337 | 0.854109 | 5.6 | 1 | 1 | 0.993 | 19.6097 | 839 | 0.2954 | 0.762062 | 35 | 0.888276 | 0.845603 | 0.888276 | 0.845603 | 0.651 | 0.58211 | 0.61581 | -5.87 | 0.465474 | 0.53922 | null | 0.990977 | 0.555312 | 0.653661 | 0.000566 | 0.0743 | 0.920516 | 0.765 | 0.626297 | 0.938 | 0.000016 |
SATB2 | P603L | Pathogenic | 0.697 | 0.163 | 0 | 0 | 0.024707 | 0.993041 | 0 | 0.98 | -1.17 | 0.331 | -1.0741 | 0.0536 | 0.137822 | 0.003873 | 0.043 | 0.309 | 0.543265 | 0.505162 | 1.068812 | 0.61145 | 0.196471 | -0.143369 | -0.443716 | 0.283052 | 0.875312 | 0.951073 | 0.90994 | 0.20432 | 0.996131 | 0.615465 | 0.573888 | 0.658983 | 0.620846 | 2.364152 | -0.091668 | 0.130155 | 5.25 | 1 | 1 | 0.996 | 8.5222 | 827 | 0.0496 | 0.914445 | 20 | 0.057218 | 0.055456 | 0.057218 | 0.055456 | 0.36 | 0.04462 | 0.419297 | -6.167 | 0.171059 | 0.096963 | -5.28879 | 0.041067 | 0.219859 | 0.079696 | 0.000233 | 0 | 0.035719 | 0.051 | 0.374673 | 0.369 | null |
SATB2 | Y556S | Pathogenic | 0 | 0.006 | 1 | 1 | 0 | 1 | 1.935 | 0.27 | -4.71 | 0.858667 | -0.3046 | 0.3614 | 0.849677 | 0.121362 | 0.508 | 0.572 | 0.692881 | 0.977073 | 2.604855 | 0.837003 | 0.741513 | 0.239807 | 0.10669 | 0.998019 | 0.999074 | 0.993553 | 0.98771 | 0.922817 | 1 | 0.538911 | 0.563428 | 0.607057 | 0.567892 | 3.75537 | 0.737435 | 0.706229 | 5.35 | 1 | 1 | 0.883 | 15.79 | 837 | 0.9964 | 0.738972 | 65 | 0.834965 | 0.850925 | 0.834965 | 0.850925 | 0.778 | 0.97852 | 0.589673 | -15.017 | 0.718139 | 0.660434 | -13.449698 | 0.672123 | 0.680866 | 0.3107 | 0.00058 | 0.8393 | 0.983886 | 0.865 | 0.833417 | 0.984 | null |
SATB2 | L394S | Pathogenic | 0 | 0.001 | 0.999 | 0.992 | 0.000002 | 0.999992 | 3.03 | -0.1 | -2.32 | 0.95 | 0.0637 | 0.4725 | 0.948156 | 0.167066 | 0.735 | 0.865 | 0.919871 | 0.960904 | 2.576299 | 0.891346 | 0.469292 | 0.363812 | 0.284815 | 0.991695 | 0.999319 | 0.998412 | 0.98996 | 0.931873 | 1 | 0.553676 | 0.573888 | 0.618467 | 0.620846 | 4.250984 | 0.859745 | 0.79866 | 4.98 | 1 | 1 | 0.99 | 15.1355 | 840 | 0.9999 | 0.745957 | 90 | 0.567237 | 0.688553 | 0.567237 | 0.688553 | 0.867 | 0.9912 | 0.70552 | -18.105 | 0.837406 | 0.67195 | -17.442302 | 0.969982 | 0.941436 | 0.801756 | 0.000585 | 0.5032 | 0.974633 | 0.979 | 0.902073 | 0.803 | null |
SATB2 | A386V | Pathogenic | 0.002 | 0.01 | 0.998 | 0.988 | 0 | 1 | 1.29 | 0.81 | -2.84 | 0.774333 | -0.8061 | 0.2009 | 0.685793 | 0.015854 | 0.342 | 0.537 | 0.554032 | 0.851564 | 2.210301 | 0.905535 | 0.65831 | 0.200822 | 0.05069 | 0.974457 | 0.978202 | 0.999221 | 0.99737 | 0.923611 | 1 | 0.638212 | 0.573888 | 0.653264 | 0.620846 | 4.266318 | 0.714084 | 0.776326 | 5.72 | 1 | 1 | 0.997 | 19.8861 | 803 | 0.9966 | 0.862525 | 50 | 0.640632 | 0.557354 | 0.640632 | 0.557354 | 0.697 | 0.84833 | 0.532747 | -11.524 | 0.623473 | 0.671688 | -10.839871 | 0.958471 | 0.694851 | 0.572715 | 0.000583 | 0.2875 | 0.892717 | 0.964 | 0.83162 | 0.941 | null |
CRYGC | L133F | Benign | 1 | 0.787 | 0.432 | 0.272 | 0.00044 | 0.789404 | 1.02 | -1.24 | 0.52 | 0.289 | -0.4331 | 0.3127 | 0.337645 | 0.019505 | 0.276 | 0.519 | 0.892505 | 0.57921 | 0.319145 | 0.455936 | 0.183071 | -0.013828 | -0.25764 | 0.781567 | null | 0.82144 | 0.72529 | 0.252924 | 0.017521 | 0.487112 | 0.573888 | 0.573078 | 0.564101 | 1.959021 | 0.099385 | 0.221816 | 5.13 | 1 | 1 | 0.977 | 9.9752 | 843 | 0.272 | 0.872183 | 32 | 0.074525 | 0.096192 | 0.074525 | 0.096192 | 0.121 | 0.31081 | 0.473593 | -5.842 | 0.267156 | 0.079016 | -5.268489 | 0.49281 | 0.210909 | 0.291742 | 0.000143 | 0.0039 | 0.53422 | 0.075 | 0.058692 | 0.307 | null |
CPS1 | R1001H | Pathogenic | 0 | 0.016 | 1 | 0.999 | 0 | 0.999999 | 3.04 | -4.71 | -4.66 | 0.769 | 1.0769 | 0.9735 | 0.871515 | 0.226982 | 0.824 | 0.564 | 0.983925 | null | null | 0.876313 | 0.796929 | 0.572888 | 0.585137 | 0.999613 | 0.978002 | 0.999453 | 0.99158 | 0.977434 | 1 | 0.693126 | 0.588015 | 0.659464 | 0.620846 | 4.328099 | 1.117686 | 1.064543 | 6.16 | 1 | 1 | 1 | 20.8598 | 396 | 0.5969 | 0.837575 | 48 | 0.83201 | 0.681724 | 0.83201 | 0.681724 | null | 0.27225 | 0.415083 | -8.055 | 0.269586 | 0.377293 | null | 0.985726 | 0.919598 | 0.983297 | 0.000584 | 0.0077 | 0.735361 | 0.802 | 0.438379 | 0.93 | null |
FN1 | H307Y | Benign | 0.006727 | 0.054636 | 0.850625 | 0.490625 | 0.000001 | 1 | 1.39 | 1.685455 | -1.489091 | 0.513455 | -0.6546 | 0.257 | 0.549757 | 0.025141 | 0.151 | 0.366 | 0.784939 | 0.782862 | 0.697987 | 0.483702 | 0.429542 | 0.049237 | -0.167051 | 0.738431 | 0.905582 | 0.998287 | 0.97603 | 0.86089 | 1 | 0.706548 | 0.588015 | 0.724815 | 0.7233 | 3.778997 | 0.432725 | 0.514928 | 5.83 | 1 | 1 | 0.976 | 20.1374 | 761 | 0.0911 | 0.957342 | 70 | 0.627722 | 0.598205 | 0.627722 | 0.598205 | 0.369 | 0.16627 | 0.220161 | -6.275 | 0.118164 | 0.169007 | null | 0.00916 | 0.349917 | 0.210595 | 0.000567 | 0.0894 | 0.008952 | 0.193 | 0.221841 | 0.894 | null |
FN1 | P157L | Benign | 0.003 | 0.010636 | 0.9965 | 0.957875 | 0.000001 | 1 | 1.5 | 0.82 | -3.857273 | 0.588364 | -0.6764 | 0.2397 | 0.503999 | 0.063559 | 0.468 | 0.61 | 0.754959 | 0.811768 | 0.921467 | 0.834551 | 0.457021 | 0.245145 | 0.114357 | 0.990949 | 0.935534 | 0.998696 | 0.93556 | 0.917407 | 1 | 0.706298 | 0.588015 | 0.709663 | 0.657601 | 4.235351 | 0.697485 | 0.734834 | 5.78 | 1 | 1 | 0.982 | 20.3754 | 744 | 0.1165 | 0.887457 | 69 | 0.726005 | 0.603069 | 0.726005 | 0.603069 | 0.454 | 0.68478 | 0.494515 | -11.637 | 0.139047 | 0.375676 | null | 0.036393 | 0.217101 | 0.537701 | 0.000582 | 0.0023 | 0.04365 | 0.352 | 0.349077 | 0.801 | null |
FN1 | C87Y | Pathogenic | 0.001091 | 0 | 0.98875 | 0.905875 | 0 | 1 | 2.165 | -3.49 | -5.46 | 0.869636 | 0.9706 | 0.9036 | 0.98166 | 0.374267 | 0.896 | 0.952 | 0.989887 | 0.958928 | 1.203638 | 0.844159 | 0.614075 | 0.50472 | 0.487219 | 0.99706 | 0.972151 | 0.996867 | 0.95754 | 0.981523 | 1 | 0.695654 | 0.588015 | 0.723109 | 0.56214 | 4.432976 | 0.832168 | 0.84204 | 5.91 | 1 | 1 | 0.981 | 20.2983 | 743 | 0.9993 | 0.802324 | 98 | 0.870083 | 0.916481 | 0.870082 | 0.916481 | 0.904 | 0.97946 | 0.834237 | -11.087 | 0.605608 | 0.703358 | null | 0.084009 | 0.9201 | 0.924786 | 0.000584 | 0.0719 | 0.946767 | 0.956 | 0.594781 | 0.993 | null |
IHH | P300T | Benign | 0.288 | 0.349 | 0.998 | 0.961 | 0 | 0.999936 | 1.97 | -5.19 | -4.43 | 0.634 | 1.1185 | 0.9592 | 0.776684 | 0.213887 | 0.828 | 0.537 | 0.988072 | 0.709629 | 0.710846 | 0.69805 | 0.958544 | 0.314363 | 0.213784 | 0.992939 | 0.918608 | 0.997454 | 0.98958 | 0.855968 | 0.999995 | 0.549168 | 0.610034 | 0.590023 | 0.542086 | 3.234346 | 0.641021 | 0.63043 | 5.16 | 1 | 1 | 0.999 | 18.2593 | 516 | 0.1203 | 0.979893 | 36 | 0.466243 | 0.584531 | 0.466243 | 0.584531 | 0.841 | 0.46936 | 0.292333 | -11.137 | 0.337963 | 0.299884 | -7.821559 | 0.830884 | 0.895449 | 0.8 | 0.000469 | 0.036 | 0.334725 | 0.342 | 0.296089 | 0.724 | null |
OBSL1 | A693P | Pathogenic | 0.002 | 0.00975 | 0.999 | 0.9965 | null | 0.999999 | 2.215 | 1.08 | -3.89 | 0.76425 | -0.8166 | 0.2082 | 0.811755 | 0.03085 | 0.242 | 0.612 | 0.426552 | 0.811014 | 0.765884 | 0.448074 | 0.161474 | 0.06546 | 0.053224 | 0.676424 | 0.884811 | 0.997605 | 0.93279 | 0.830748 | 1 | 0.722319 | 0.59043 | 0.698795 | 0.579976 | 3.160462 | 0.452461 | 0.409477 | 4.35 | 0.991 | 0.747 | 0.598 | 11.1871 | 115 | 0.6886 | 0.619348 | 12 | 0.773984 | 0.788722 | 0.773984 | 0.788722 | 0.412 | 0.32616 | 0.500658 | -13.074 | 0.338944 | null | null | 0.022799 | 0.341535 | 0.082548 | 0.000326 | 0.159 | 0.337436 | 0.312 | 0.038492 | 0.186 | 0.000044 |
OBSL1 | E454K | Benign | 0.141 | 0.419 | 0.691 | 0.454 | null | 0.996015 | 0.145 | -1.25 | -0.903333 | 0.44075 | -0.7781 | 0.3029 | 0.253785 | 0.056541 | 0.277 | 0.521 | 0.89839 | 0.597831 | 0.528087 | 0.424219 | 0.015908 | -0.006904 | -0.247693 | 0.458609 | 0.933007 | 0.98434 | 0.76702 | 0.355893 | 0.999997 | 0.722319 | 0.59043 | 0.698795 | 0.579976 | 3.154023 | -0.380333 | -0.325426 | 4.46 | 0.998 | 1 | 0.039 | 17.2927 | 115 | 0.1313 | 0.938133 | 6 | 0.218719 | 0.159416 | 0.218719 | 0.159416 | 0.146 | 0.14304 | 0.320087 | -7.103 | 0.119943 | null | null | 0.016851 | 0.231847 | 0.140511 | 0.000187 | 0.0077 | 0.022426 | 0.085 | 0.010652 | 0.645 | null |
COL4A3 | G58D | Benign | 0 | 0 | 1 | 1 | 0.000011 | 0.999998 | 4.56 | -5.77 | -6.24 | 0.856 | 1.0259 | 0.9866 | 0.994044 | 0.804712 | 0.923 | 0.987 | 0.950392 | 0.981516 | 0.863726 | 0.716873 | 0.679653 | 0.296202 | 0.187697 | 0.998722 | 0.979902 | 0.998644 | 0.97561 | 0.576642 | 0.99841 | 0.638212 | 0.670034 | 0.602189 | 0.564101 | 3.531146 | 0.970956 | 0.882534 | 5.87 | 0.998 | 1 | 0.86 | 15.7708 | 927 | 0.8749 | 0.768564 | 89 | 0.980116 | 0.966569 | 0.980116 | 0.966569 | 0.5 | 0.99639 | 0.67448 | -13.6 | 0.732571 | 0.939518 | null | 0.992385 | 0.88282 | 0.885238 | 0.000534 | 0.1012 | 0.919568 | 0.974 | 0.43758 | 0.833 | null |
COL4A3 | G118R | Pathogenic | 0 | 0.001 | 1 | 1 | 0.021847 | 0.912096 | 4.305 | -5.77 | -7.23 | 0.991 | 1.0512 | 0.9868 | 0.996229 | 0.861768 | 0.896 | 0.975 | 0.9512 | 0.937468 | 0.825335 | 0.695736 | 0.672278 | 0.541783 | 0.540458 | 0.996041 | 0.949505 | 0.998611 | 0.87787 | 0.529731 | 0.993345 | 0.638212 | 0.670034 | 0.618467 | 0.564101 | 3.508278 | 0.672824 | 0.473998 | 5.49 | 1 | 1 | 0.011 | 14.8805 | 947 | 0.6157 | 0.767361 | 86 | 0.869149 | 0.850107 | 0.893919 | 0.859143 | 0.874 | 0.96388 | 0.766198 | -10.732 | 0.716157 | 0.970462 | null | 0.992911 | 0.938374 | 0.936897 | 0.000516 | 0.0016 | 0.970445 | 0.928 | 0.447799 | 0.479 | null |
COL6A3 | V650I | Benign | 0.358 | 0.211 | 0.184 | 0.048 | 0.000587 | 0.706061 | 0.61 | -1.47 | -0.4 | 0.32 | -0.5345 | 0.2916 | 0.234339 | 0.045991 | 0.176 | null | 0.769297 | 0.304848 | 0.349067 | 0.428319 | 0.166342 | -0.099542 | -0.273105 | 0.165386 | 0.79532 | 0.984771 | 0.88222 | 0.350662 | 0.997474 | 0.553676 | 0.563428 | 0.618467 | 0.542086 | 2.013721 | -0.106297 | 0.05022 | 4.65 | 1 | 1 | 0.873 | 14.6393 | 931 | 0.105 | 0.947812 | 16 | 0.136326 | 0.098141 | 0.136326 | 0.098141 | 0.25 | 0.07624 | 0.354416 | -3.574 | 0.138486 | null | null | 0.008508 | 0.116467 | 0.700968 | 0.000323 | 0.0001 | null | 0.064 | 0.03496 | 0.189 | 0.000024 |
COL6A3 | A383T | Benign | 0.256 | 0.1925 | 0.425 | 0.233 | 0.265049 | 0.983247 | 2.025 | -1.7 | -0.465 | 0.3 | -0.615 | 0.4122 | 0.250669 | 0.067167 | 0.285 | null | 0.763616 | 0.248707 | 0.558773 | 0.38046 | 0.108143 | -0.043736 | -0.236954 | 0.535954 | 0.820418 | 0.996668 | 0.87457 | 0.502614 | 0.999999 | 0.487112 | 0.563428 | 0.573888 | 0.530356 | 2.561954 | 0.12858 | 0.252849 | 5.17 | 0.999 | 1 | 0.999 | 6.7263 | 933 | 0.0913 | 0.932737 | 12 | 0.060402 | 0.056269 | 0.060402 | 0.056269 | 0.328 | 0.09806 | 0.244707 | -4.196 | 0.213063 | null | null | 0.278118 | 0.209328 | 0.931333 | 0.000436 | 0.0044 | null | 0.054 | 0.160278 | 0.255 | 0.000012 |
TWIST2 | Y143N | Benign | 0.003 | 0.006 | 0.998 | 0.969 | null | 1 | 2.39 | -4.46 | -8.48 | 0.7965 | 1.0914 | 0.943 | 0.913413 | 0.817478 | 0.932 | 0.457 | 0.99534 | 0.959804 | 4.219752 | 0.903088 | 0.564976 | 0.477097 | 0.44754 | 0.996386 | 0.9954 | 0.990358 | 0.92385 | 0.908552 | 1 | 0.652421 | 0.627178 | 0.619478 | 0.71 | 4.690639 | 0.716391 | 0.649332 | 4.86 | 1 | 1 | 0.977 | 14.4811 | 929 | 0.9863 | 0.727329 | 48 | 0.734936 | 0.761111 | 0.734936 | 0.761111 | 0.843 | 0.85476 | 0.406064 | -14.684 | 0.603676 | null | -10.598021 | 0.999674 | 0.986979 | 0.895335 | 0.000559 | 0.5773 | 0.897422 | 0.757 | 0.739164 | 0.946 | null |
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