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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
28755 | 1 | D/A | 1 | rs1702996133 | 0.3896 | None | gnomAD-4.0.0 | 1.36965E-06 | |
28755 | 1 | D/V | 1 | None | 0.3896 | None | gnomAD-4.0.0 | 4.10895E-06 | |
28757 | 3 | D/A | 3 | rs778722165 | 0.4646 | None | gnomAD-2.1.1 | 2.83E-05 | |
28757 | 3 | D/A | 3 | rs778722165 | 0.4646 | None | gnomAD-4.0.0 | 1.43843E-05 | |
28757 | 3 | D/G | 3 | rs778722165 | 0.4646 | None | gnomAD-2.1.1 | 3.18E-05 | |
28757 | 3 | D/N | 3 | rs946879778 | 0.4646 | None | gnomAD-2.1.1 | 8.08E-06 | |
28757 | 3 | D/N | 3 | rs946879778 | 0.4646 | None | gnomAD-4.0.0 | 4.10978E-06 | |
28758 | 4 | S/G | 4 | None | 0.5504 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28759 | 5 | E/K | 5 | rs1180434242 | 0.4028 | None | gnomAD-2.1.1 | 3.19E-05 | |
28759 | 5 | E/K | 5 | rs1180434242 | 0.4028 | None | gnomAD-3.1.2 | 6.57E-06 | |
28759 | 5 | E/K | 5 | rs1180434242 | 0.4028 | None | gnomAD-4.0.0 | 2.56881E-06 | |
28760 | 6 | M/I | 7 | rs756980643 | 0.2855 | None | gnomAD-2.1.1 | 1.21E-05 | |
28760 | 6 | M/I | 7 | rs756980643 | 0.2855 | None | gnomAD-3.1.2 | 6.57E-06 | |
28760 | 6 | M/I | 7 | rs756980643 | 0.2855 | None | gnomAD-4.0.0 | 3.72323E-06 | |
28764 | 10 | L/V | 13 | None | 0.3315 | None | gnomAD-4.0.0 | 1.20034E-06 | |
28765 | 11 | I/F | 14 | rs1216320411 | 0.5274 | None | gnomAD-2.1.1 | 4.05E-06 | |
28765 | 11 | I/F | 14 | rs1216320411 | 0.5274 | None | gnomAD-4.0.0 | 1.59823E-06 | |
28765 | 11 | I/T | 14 | rs1553561335 | 0.5274 | None | gnomAD-4.0.0 | 6.16952E-06 | |
28766 | 12 | V/A | 16 | rs754113086 | 0.1294 | None | gnomAD-2.1.1 | 4.05E-06 | |
28766 | 12 | V/A | 16 | rs754113086 | 0.1294 | None | gnomAD-4.0.0 | 6.85577E-07 | |
28766 | 12 | V/G | 16 | None | 0.1294 | None | gnomAD-4.0.0 | 6.85577E-07 | |
28767 | 13 | K/E | 18 | rs1348921301 | 0.7724 | None | gnomAD-3.1.2 | 6.57E-06 | |
28767 | 13 | K/E | 18 | rs1348921301 | 0.7724 | None | gnomAD-4.0.0 | 6.57281E-06 | |
28768 | 14 | A/D | 23 | None | 0.4357 | None | gnomAD-4.0.0 | 1.20034E-06 | |
28768 | 14 | A/P | 23 | None | 0.4357 | None | gnomAD-4.0.0 | 6.85651E-07 | |
28768 | 14 | A/S | 23 | rs768347250 | 0.4357 | None | gnomAD-4.0.0 | 1.3713E-06 | |
28768 | 14 | A/T | 23 | rs768347250 | 0.4357 | None | gnomAD-4.0.0 | 1.3713E-06 | |
28769 | 15 | G/A | 24 | rs756222422 | 0.3613 | None | gnomAD-2.1.1 | 8.12E-06 | |
28769 | 15 | G/A | 24 | rs756222422 | 0.3613 | None | gnomAD-4.0.0 | 1.59946E-06 | |
28769 | 15 | G/D | 24 | rs756222422 | 0.3613 | None | gnomAD-2.1.1 | 4.06E-06 | |
28769 | 15 | G/D | 24 | rs756222422 | 0.3613 | None | gnomAD-4.0.0 | 1.59946E-06 | |
28770 | 16 | A/T | 25 | rs752764932 | 0.2699 | None | gnomAD-2.1.1 | 4.06E-06 | |
28770 | 16 | A/T | 25 | rs752764932 | 0.2699 | None | gnomAD-4.0.0 | 3.19942E-06 | |
28771 | 17 | S/L | 26 | rs760184584 | 0.4926 | None | gnomAD-2.1.1 | 8.12E-06 | |
28771 | 17 | S/L | 26 | rs760184584 | 0.4926 | None | gnomAD-4.0.0 | 3.19947E-06 | |
28771 | 17 | S/P | 26 | rs369269686 | 0.4926 | None | gnomAD-2.1.1 | 1.44E-05 | |
28771 | 17 | S/P | 26 | rs369269686 | 0.4926 | None | gnomAD-3.1.2 | 2.63E-05 | |
28771 | 17 | S/P | 26 | rs369269686 | 0.4926 | None | gnomAD-4.0.0 | 5.58885E-06 | |
28772 | 18 | F/L | 28 | rs574993385 | 0.1465 | None | gnomAD-2.1.1 | 4.06E-06 | |
28772 | 18 | F/L | 28 | rs574993385 | 0.1465 | None | 1000 genomes | 1.99681E-04 | |
28773 | 19 | T/A | 29 | None | 0.3951 | None | gnomAD-4.0.0 | 1.59991E-06 | |
28774 | 20 | M/I | 30 | None | 0.1106 | None | gnomAD-4.0.0 | 1.37197E-06 | |
28774 | 20 | M/T | 30 | rs766812574 | 0.1106 | None | gnomAD-2.1.1 | 4.06E-06 | |
28774 | 20 | M/T | 30 | rs766812574 | 0.1106 | None | gnomAD-4.0.0 | 4.80091E-06 | |
28774 | 20 | M/V | 30 | None | 0.1106 | None | gnomAD-4.0.0 | 1.37168E-06 | |
28775 | 21 | T/A | 31 | rs1201545659 | 0.3804 | None | gnomAD-2.1.1 | 3.19E-05 | |
28775 | 21 | T/A | 31 | rs1201545659 | 0.3804 | None | gnomAD-3.1.2 | 6.57E-06 | |
28775 | 21 | T/A | 31 | rs1201545659 | 0.3804 | None | gnomAD-4.0.0 | 6.57384E-06 | |
28775 | 21 | T/I | 31 | None | 0.3804 | None | gnomAD-4.0.0 | 2.05789E-06 | |
28778 | 24 | F/V | 35 | None | 0.0939 | None | gnomAD-4.0.0 | 1.37279E-06 | |
28779 | 25 | R/Q | 38 | rs763175453 | 0.4475 | None | gnomAD-2.1.1 | 3.28E-05 | |
28779 | 25 | R/Q | 38 | rs763175453 | 0.4475 | None | gnomAD-3.1.2 | 1.97E-05 | |
28779 | 25 | R/Q | 38 | rs763175453 | 0.4475 | None | gnomAD-4.0.0 | 2.98549E-05 | |
28780 | 26 | G/E | 40 | None | 0.1334 | None | gnomAD-4.0.0 | 6.87028E-07 | |
28780 | 26 | G/R | 40 | None | 0.1334 | None | gnomAD-4.0.0 | 2.061E-06 | |
28782 | 28 | P/L | 42 | rs561319491 | 0.4966 | None | gnomAD-2.1.1 | 1.65E-05 | |
28782 | 28 | P/L | 42 | rs561319491 | 0.4966 | None | gnomAD-3.1.2 | 3.29E-05 | |
28782 | 28 | P/L | 42 | rs561319491 | 0.4966 | None | 1000 genomes | 1.99681E-04 | |
28782 | 28 | P/L | 42 | rs561319491 | 0.4966 | None | gnomAD-4.0.0 | 2.61359E-05 | |
28782 | 28 | P/Q | 42 | None | 0.4966 | None | gnomAD-2.1.1 | 4.12E-06 | |
28782 | 28 | P/Q | 42 | None | 0.4966 | None | gnomAD-3.1.2 | 6.57E-06 | |
28782 | 28 | P/Q | 42 | None | 0.4966 | None | gnomAD-4.0.0 | 1.30689E-05 | |
28782 | 28 | P/R | 42 | rs561319491 | 0.4966 | None | gnomAD-2.1.1 | 4.12E-06 | |
28782 | 28 | P/R | 42 | rs561319491 | 0.4966 | None | gnomAD-4.0.0 | 6.87399E-07 | |
28783 | 29 | V/I | 43 | rs763600156 | 0.4532 | None | gnomAD-2.1.1 | 8.24E-06 | |
28783 | 29 | V/I | 43 | rs763600156 | 0.4532 | None | gnomAD-3.1.2 | 6.57E-06 | |
28783 | 29 | V/I | 43 | rs763600156 | 0.4532 | None | gnomAD-4.0.0 | 1.24499E-06 | |
28784 | 30 | P/A | 44 | rs748783837 | 0.1139 | None | gnomAD-2.1.1 | 4.13E-06 | |
28784 | 30 | P/A | 44 | rs748783837 | 0.1139 | None | gnomAD-4.0.0 | 1.61046E-06 | |
28784 | 30 | P/L | 44 | None | 0.1139 | None | gnomAD-4.0.0 | 1.37608E-06 | |
28784 | 30 | P/R | 44 | None | 0.1139 | None | gnomAD-4.0.0 | 2.75215E-06 | |
28785 | 31 | N/K | 45 | rs745857020 | 0.7597 | None | gnomAD-2.1.1 | 4.14E-06 | |
28785 | 31 | N/K | 45 | rs745857020 | 0.7597 | None | gnomAD-3.1.2 | 6.57E-06 | |
28785 | 31 | N/K | 45 | rs745857020 | 0.7597 | None | gnomAD-4.0.0 | 1.2461E-06 | |
28785 | 31 | N/S | 45 | rs775051962 | 0.7597 | None | gnomAD-2.1.1 | 4.14E-06 | |
28785 | 31 | N/S | 45 | rs775051962 | 0.7597 | None | gnomAD-3.1.2 | 6.58E-06 | |
28785 | 31 | N/S | 45 | rs775051962 | 0.7597 | None | gnomAD-4.0.0 | 1.86921E-06 | |
28786 | 32 | V/A | 46 | None | 0.2783 | None | gnomAD-4.0.0 | 1.61529E-06 | |
28786 | 32 | V/I | 46 | rs1219680583 | 0.2783 | None | gnomAD-4.0.0 | 2.06612E-06 | |
28787 | 33 | L/S | 47 | rs1237283720 | 0.6887 | None | gnomAD-2.1.1 | 4.16E-06 | |
28787 | 33 | L/S | 47 | rs1237283720 | 0.6887 | None | gnomAD-4.0.0 | 1.61777E-06 | |
28789 | 35 | S/G | 49 | None | 0.3482 | None | gnomAD-4.0.0 | 6.89843E-07 | |
28789 | 35 | S/N | 49 | rs1465190956 | 0.3482 | None | gnomAD-3.1.2 | 1.31E-05 | |
28789 | 35 | S/N | 49 | rs1465190956 | 0.3482 | None | gnomAD-4.0.0 | 5.2079E-06 | |
28789 | 35 | S/R | 49 | rs774223958 | 0.3482 | None | gnomAD-2.1.1 | 2.95E-05 | |
28789 | 35 | S/R | 49 | rs774223958 | 0.3482 | None | gnomAD-3.1.2 | 5.26E-05 | |
28789 | 35 | S/R | 49 | rs774223958 | 0.3482 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28791 | 37 | P/L | 51 | None | 0.5740 | None | gnomAD-4.0.0 | 1.626E-06 | |
28792 | 38 | D/Y | 52 | None | 1.0602 | None | gnomAD-4.0.0 | 2.76378E-06 | |
28793 | 39 | T/A | 55 | rs727505234 | 0.2821 | None | gnomAD-3.1.2 | 6.57E-06 | |
28793 | 39 | T/A | 55 | rs727505234 | 0.2821 | None | gnomAD-4.0.0 | 5.62684E-06 | |
28793 | 39 | T/S | 55 | None | 0.2821 | None | gnomAD-4.0.0 | 2.07271E-06 | |
28794 | 40 | D/E | 56 | None | 0.3583 | None | gnomAD-4.0.0 | 1.3824E-06 | |
28794 | 40 | D/H | 56 | None | 0.3583 | None | gnomAD-4.0.0 | 1.63125E-06 | |
28794 | 40 | D/V | 56 | rs544440335 | 0.3583 | None | gnomAD-2.1.1 | 4.23E-06 | |
28794 | 40 | D/V | 56 | rs544440335 | 0.3583 | None | gnomAD-3.1.2 | 6.57E-06 | |
28794 | 40 | D/V | 56 | rs544440335 | 0.3583 | None | 1000 genomes | 1.99681E-04 | |
28794 | 40 | D/V | 56 | rs544440335 | 0.3583 | None | gnomAD-4.0.0 | 6.56978E-06 | |
28796 | 42 | R/C | 69 | rs778069260 | 0.6678 | None | gnomAD-2.1.1 | 2.62E-05 | |
28796 | 42 | R/C | 69 | rs778069260 | 0.6678 | None | gnomAD-3.1.2 | 4.6E-05 | |
28796 | 42 | R/C | 69 | rs778069260 | 0.6678 | None | gnomAD-4.0.0 | 2.18909E-05 | |
28796 | 42 | R/G | 69 | None | 0.6678 | None | gnomAD-4.0.0 | 6.9123E-07 | |
28796 | 42 | R/H | 69 | rs181167673 | 0.6678 | None | gnomAD-2.1.1 | 1.27E-05 | |
28796 | 42 | R/H | 69 | rs181167673 | 0.6678 | None | gnomAD-3.1.2 | 6.57E-06 | |
28796 | 42 | R/H | 69 | rs181167673 | 0.6678 | None | 1000 genomes | 1.99681E-04 | |
28796 | 42 | R/H | 69 | rs181167673 | 0.6678 | None | gnomAD-4.0.0 | 7.50582E-06 | |
28798 | 44 | R/G | 73 | rs748375797 | 0.2205 | None | gnomAD-2.1.1 | 3.19E-05 | |
28798 | 44 | R/G | 73 | rs748375797 | 0.2205 | None | gnomAD-3.1.2 | 6.57E-06 | |
28798 | 44 | R/G | 73 | rs748375797 | 0.2205 | None | gnomAD-4.0.0 | 6.57203E-06 | |
28798 | 44 | R/I | 73 | None | 0.2205 | None | gnomAD-4.0.0 | 1.62837E-06 | |
28798 | 44 | R/K | 73 | rs781458689 | 0.2205 | None | gnomAD-2.1.1 | 8.45E-06 | |
28798 | 44 | R/K | 73 | rs781458689 | 0.2205 | None | gnomAD-4.0.0 | 7.82918E-06 | |
28799 | 45 | A/P | 102 | rs755083936 | 0.1851 | None | gnomAD-2.1.1 | 4.23E-06 | |
28799 | 45 | A/T | 102 | rs755083936 | 0.1851 | None | gnomAD-4.0.0 | 1.38211E-06 | |
28799 | 45 | A/V | 102 | None | 0.1851 | None | gnomAD-4.0.0 | 2.76449E-06 | |
28800 | 46 | Y/S | 122 | None | 0.7403 | None | gnomAD-4.0.0 | 1.38188E-06 | |
28801 | 47 | V/A | 123 | rs994118977 | 0.2874 | None | gnomAD-3.1.2 | 6.57E-06 | |
28801 | 47 | V/A | 123 | rs994118977 | 0.2874 | None | gnomAD-4.0.0 | 1.87456E-06 | |
28801 | 47 | V/F | 123 | None | 0.2874 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28801 | 47 | V/I | 123 | None | 0.2874 | None | gnomAD-4.0.0 | 3.60097E-06 | |
28803 | 49 | T/A | 127 | None | 0.3766 | None | gnomAD-4.0.0 | 1.6242E-06 | |
28803 | 49 | T/I | 127 | rs758807133 | 0.3766 | None | gnomAD-2.1.1 | 8.42E-06 | |
28803 | 49 | T/I | 127 | rs758807133 | 0.3766 | None | gnomAD-3.1.2 | 6.57E-06 | |
28803 | 49 | T/I | 127 | rs758807133 | 0.3766 | None | gnomAD-4.0.0 | 7.49518E-06 | |
28803 | 49 | T/N | 127 | rs758807133 | 0.3766 | None | gnomAD-3.1.2 | 6.57E-06 | |
28803 | 49 | T/N | 127 | rs758807133 | 0.3766 | None | gnomAD-4.0.0 | 6.57358E-06 | |
28804 | 50 | T/A | 130 | rs879038909 | 0.3036 | None | gnomAD-4.0.0 | 2.02969E-06 | |
28804 | 50 | T/P | 130 | rs879038909 | 0.3036 | None | gnomAD-3.1.2 | 6.57E-06 | |
28804 | 50 | T/P | 130 | rs879038909 | 0.3036 | None | gnomAD-4.0.0 | 6.57263E-06 | |
28804 | 50 | T/R | 130 | rs750815763 | 0.3036 | None | gnomAD-2.1.1 | 4.2E-06 | |
28804 | 50 | T/R | 130 | rs750815763 | 0.3036 | None | gnomAD-4.0.0 | 1.62247E-06 | |
28805 | 51 | D/A | 131 | rs1028838136 | 0.6395 | None | gnomAD-2.1.1 | 4.2E-06 | |
28805 | 51 | D/A | 131 | rs1028838136 | 0.6395 | None | gnomAD-3.1.2 | 1.32E-05 | |
28805 | 51 | D/A | 131 | rs1028838136 | 0.6395 | None | gnomAD-4.0.0 | 5.20649E-06 | |
28805 | 51 | D/G | 131 | rs1028838136 | 0.6395 | None | gnomAD-2.1.1 | 6.38E-05 | |
28805 | 51 | D/G | 131 | rs1028838136 | 0.6395 | None | gnomAD-3.1.2 | 1.97E-05 | |
28805 | 51 | D/G | 131 | rs1028838136 | 0.6395 | None | gnomAD-4.0.0 | 1.97342E-05 | |
28806 | 52 | S/C | 134 | rs1060500445 | 0.2912 | None | gnomAD-3.1.2 | 6.57E-06 | |
28806 | 52 | S/C | 134 | rs1060500445 | 0.2912 | None | gnomAD-4.0.0 | 6.57272E-06 | |
28806 | 52 | S/F | 134 | rs1060500445 | 0.2912 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28807 | 53 | R/C | 135 | rs765632053 | 0.4924 | None | gnomAD-3.1.2 | 6.57E-06 | |
28807 | 53 | R/H | 135 | rs375800916 | 0.4924 | None | gnomAD-2.1.1 | 5.18E-05 | |
28807 | 53 | R/H | 135 | rs375800916 | 0.4924 | None | gnomAD-3.1.2 | 4.6E-05 | |
28807 | 53 | R/H | 135 | rs375800916 | 0.4924 | None | gnomAD-4.0.0 | 2.12098E-04 | |
28807 | 53 | R/L | 135 | None | 0.4924 | None | gnomAD-4.0.0 | 6.89223E-07 | |
28808 | 54 | T/A | 136 | rs1357418586 | 0.0856 | None | gnomAD-2.1.1 | 7.38E-06 | |
28808 | 54 | T/A | 136 | rs1357418586 | 0.0856 | None | gnomAD-3.1.2 | 6.57E-06 | |
28808 | 54 | T/A | 136 | rs1357418586 | 0.0856 | None | gnomAD-4.0.0 | 2.59521E-06 | |
28808 | 54 | T/I | 136 | None | 0.0856 | None | gnomAD-4.0.0 | 6.88641E-07 | |
28809 | 55 | S/T | 137 | rs1702904098 | 0.1708 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28810 | 56 | L/V | 138 | None | 0.0863 | None | gnomAD-4.0.0 | 2.06226E-06 | |
28811 | 57 | T/S | 139 | rs775103234 | 0.2362 | None | gnomAD-2.1.1 | 8.24E-06 | |
28811 | 57 | T/S | 139 | rs775103234 | 0.2362 | None | gnomAD-3.1.2 | 6.57E-06 | |
28811 | 57 | T/S | 139 | rs775103234 | 0.2362 | None | gnomAD-4.0.0 | 1.60637E-06 | |
28812 | 58 | I/T | 140 | rs727504959 | 0.0713 | None | gnomAD-2.1.1 | 1.65E-05 | |
28812 | 58 | I/T | 140 | rs727504959 | 0.0713 | None | gnomAD-3.1.2 | 1.97E-05 | |
28812 | 58 | I/T | 140 | rs727504959 | 0.0713 | None | gnomAD-4.0.0 | 1.80386E-05 | |
28812 | 58 | I/V | 140 | rs201918596 | 0.0713 | None | gnomAD-2.1.1 | 2.37328E-04 | |
28812 | 58 | I/V | 140 | rs201918596 | 0.0713 | None | gnomAD-3.1.2 | 6.899E-04 | |
28812 | 58 | I/V | 140 | rs201918596 | 0.0713 | None | 1000 genomes | 9.98403E-04 | |
28812 | 58 | I/V | 140 | rs201918596 | 0.0713 | None | gnomAD-4.0.0 | 1.27505E-04 | |
28816 | 62 | N/K | 145 | rs774349799 | 0.3099 | None | gnomAD-2.1.1 | 4.08E-06 | |
28816 | 62 | N/K | 145 | rs774349799 | 0.3099 | None | gnomAD-3.1.2 | 3.29E-05 | |
28816 | 62 | N/K | 145 | rs774349799 | 0.3099 | None | gnomAD-4.0.0 | 3.72583E-06 | |
28817 | 63 | R/K | 146 | rs770715791 | 0.7640 | None | gnomAD-2.1.1 | 8.16E-06 | |
28817 | 63 | R/K | 146 | rs770715791 | 0.7640 | None | gnomAD-4.0.0 | 4.79886E-06 | |
28818 | 64 | N/H | 148 | rs1481995355 | 0.6586 | None | gnomAD-2.1.1 | 4.07E-06 | |
28818 | 64 | N/H | 148 | rs1481995355 | 0.6586 | None | gnomAD-4.0.0 | 1.59839E-06 | |
28818 | 64 | N/S | 148 | rs749233410 | 0.6586 | None | gnomAD-2.1.1 | 4.07E-06 | |
28818 | 64 | N/S | 148 | rs749233410 | 0.6586 | None | gnomAD-4.0.0 | 1.59809E-06 | |
28819 | 65 | D/Y | 149 | None | 0.1289 | None | gnomAD-4.0.0 | 3.19552E-06 | |
28820 | 66 | S/C | 151 | rs1212262872 | 0.2203 | None | gnomAD-2.1.1 | 4.06E-06 | |
28820 | 66 | S/C | 151 | rs1212262872 | 0.2203 | None | gnomAD-4.0.0 | 1.59634E-06 | |
28823 | 69 | Y/N | 154 | rs1702876346 | 0.1091 | None | gnomAD-3.1.2 | 6.57E-06 | |
28823 | 69 | Y/N | 154 | rs1702876346 | 0.1091 | None | gnomAD-4.0.0 | 3.7205E-06 | |
28824 | 70 | T/I | 155 | rs200709344 | 0.2667 | None | gnomAD-2.1.1 | 1.03915E-04 | |
28824 | 70 | T/I | 155 | rs200709344 | 0.2667 | None | gnomAD-3.1.2 | 9.86E-05 | |
28824 | 70 | T/I | 155 | rs200709344 | 0.2667 | None | gnomAD-4.0.0 | 1.24603E-04 | |
28824 | 70 | T/S | 155 | None | 0.2667 | None | gnomAD-4.0.0 | 1.59337E-06 | |
28825 | 71 | L/F | 156 | None | 0.0512 | None | gnomAD-4.0.0 | 1.59261E-06 | |
28825 | 71 | L/I | 156 | rs1575605256 | 0.0512 | None | gnomAD-4.0.0 | 1.59269E-06 | |
28828 | 74 | Q/E | 159 | rs1312264246 | 0.5053 | None | gnomAD-2.1.1 | 4.03E-06 | |
28828 | 74 | Q/E | 159 | rs1312264246 | 0.5053 | None | gnomAD-4.0.0 | 2.73726E-06 | |
28828 | 74 | Q/K | 159 | rs1312264246 | 0.5053 | None | gnomAD-2.1.1 | 8.06E-06 | |
28828 | 74 | Q/K | 159 | rs1312264246 | 0.5053 | None | gnomAD-4.0.0 | 2.73726E-06 | |
28828 | 74 | Q/R | 159 | rs1412211195 | 0.5053 | None | gnomAD-3.1.2 | 6.57E-06 | |
28828 | 74 | Q/R | 159 | rs1412211195 | 0.5053 | None | gnomAD-4.0.0 | 2.5627E-06 | |
28829 | 75 | N/D | 161 | rs371485481 | 0.1069 | None | gnomAD-2.1.1 | 4.03E-06 | |
28829 | 75 | N/D | 161 | rs371485481 | 0.1069 | None | gnomAD-3.1.2 | 1.31E-05 | |
28829 | 75 | N/D | 161 | rs371485481 | 0.1069 | None | gnomAD-4.0.0 | 2.47904E-06 | |
28829 | 75 | N/H | 161 | None | 0.1069 | None | gnomAD-4.0.0 | 2.05289E-06 | |
28830 | 76 | V/A | 162 | None | 0.7298 | None | gnomAD-4.0.0 | 1.20032E-06 | |
28830 | 76 | V/I | 162 | None | 0.7298 | None | gnomAD-4.0.0 | 1.59169E-06 | |
28831 | 77 | L/F | 163 | rs755136760 | 0.5304 | None | gnomAD-2.1.1 | 4.03E-06 | |
28832 | 78 | S/G | 164 | rs2154158012 | 0.2441 | None | gnomAD-3.1.2 | 6.57E-06 | |
28832 | 78 | S/G | 164 | rs2154158012 | 0.2441 | None | gnomAD-4.0.0 | 2.02957E-06 | |
28832 | 78 | S/N | 164 | rs747031060 | 0.2441 | None | gnomAD-2.1.1 | 8.05E-06 | |
28832 | 78 | S/N | 164 | rs747031060 | 0.2441 | None | gnomAD-4.0.0 | 1.59145E-06 | |
28832 | 78 | S/T | 164 | rs747031060 | 0.2441 | None | gnomAD-2.1.1 | 4.03E-06 | |
28832 | 78 | S/T | 164 | rs747031060 | 0.2441 | None | gnomAD-4.0.0 | 1.59145E-06 | |
28833 | 79 | A/G | 165 | None | 0.4371 | None | gnomAD-4.0.0 | 6.84236E-07 | |
28833 | 79 | A/S | 165 | rs368023553 | 0.4371 | None | gnomAD-2.1.1 | 5.36E-05 | |
28833 | 79 | A/S | 165 | rs368023553 | 0.4371 | None | gnomAD-3.1.2 | 1.57712E-04 | |
28833 | 79 | A/S | 165 | rs368023553 | 0.4371 | None | gnomAD-4.0.0 | 2.60281E-05 | |
28833 | 79 | A/T | 165 | rs368023553 | 0.4371 | None | gnomAD-2.1.1 | 4.03E-06 | |
28833 | 79 | A/T | 165 | rs368023553 | 0.4371 | None | gnomAD-4.0.0 | 6.84245E-07 | |
28833 | 79 | A/V | 165 | rs374108922 | 0.4371 | None | gnomAD-2.1.1 | 5.36E-05 | |
28833 | 79 | A/V | 165 | rs374108922 | 0.4371 | None | gnomAD-3.1.2 | 1.57698E-04 | |
28833 | 79 | A/V | 165 | rs374108922 | 0.4371 | None | gnomAD-4.0.0 | 2.60276E-05 | |
28834 | 80 | A/V | 166 | rs750913615 | 0.1557 | None | gnomAD-2.1.1 | 8.05E-06 | |
28834 | 80 | A/V | 166 | rs750913615 | 0.1557 | None | gnomAD-4.0.0 | 2.05272E-06 | |
28836 | 82 | L/V | 169 | rs1335461948 | 0.1082 | None | gnomAD-3.1.2 | 6.57E-06 | |
28836 | 82 | L/V | 169 | rs1335461948 | 0.1082 | None | gnomAD-4.0.0 | 6.5703E-06 | |
28837 | 83 | T/S | 171 | None | 0.3306 | None | gnomAD-3.1.2 | 6.57E-06 | |
28837 | 83 | T/S | 171 | None | 0.3306 | None | gnomAD-4.0.0 | 6.56763E-06 | |
28839 | 85 | V/I | 173 | rs1186404293 | 0.2864 | None | gnomAD-2.1.1 | 4.03E-06 | |
28839 | 85 | V/I | 173 | rs1186404293 | 0.2864 | None | gnomAD-3.1.2 | 6.57E-06 | |
28839 | 85 | V/I | 173 | rs1186404293 | 0.2864 | None | gnomAD-4.0.0 | 1.85911E-06 | |
28840 | 86 | V/A | 174 | rs920125248 | 0.0859 | None | gnomAD-2.1.1 | 4.03E-06 | |
28840 | 86 | V/A | 174 | rs920125248 | 0.0859 | None | gnomAD-3.1.2 | 6.57E-06 | |
28840 | 86 | V/A | 174 | rs920125248 | 0.0859 | None | gnomAD-4.0.0 | 1.05347E-05 | |
28841 | 87 | K/N | 175 | rs879227926 | 0.6616 | None | gnomAD-4.0.0 | 1.59126E-06 | |
28842 | 88 | V/L | 177 | None | 0.1572 | None | gnomAD-4.0.0 | 4.80129E-06 |