10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | T | F | L | S | R | P | K | S | L | T | T | F | V | G | K | A | A | K | F | I | C | T | V | T | G | T | P | V | I | E | T | I | W | Q | K | D | G | A | A | L | S | P | S | P | N | W | R | I | S | D | A | E | N | K | H | I | L | E | L | S | N | L | T | I | Q | D | R | G | V | Y | S | C | K | A | S | N | K | F | G | A | D | I | C | Q | A | E | L | I | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
4795 | 1 | P/A | 1 | rs2081388960 | 0.1442 | None | gnomAD-3.1.2 | 6.57E-06 | |
4795 | 1 | P/A | 1 | rs2081388960 | 0.1442 | None | gnomAD-4.0.0 | 6.57246E-06 | |
4795 | 1 | P/T | 1 | None | 0.1442 | None | gnomAD-4.0.0 | 7.00594E-07 | |
4796 | 2 | T/A | 2 | rs780971372 | 0.4409 | None | gnomAD-2.1.1 | 1.8E-05 | |
4796 | 2 | T/A | 2 | rs780971372 | 0.4409 | None | gnomAD-4.0.0 | 1.67824E-05 | |
4797 | 3 | F/C | 3 | None | 0.1541 | None | gnomAD-4.0.0 | 6.95456E-07 | |
4798 | 4 | L/F | 4 | rs2081388048 | 0.8589 | None | gnomAD-4.0.0 | 1.65128E-06 | |
4798 | 4 | L/P | 4 | None | 0.8589 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4800 | 6 | R/S | 7 | rs751522505 | 0.6373 | None | gnomAD-2.1.1 | 4.23E-06 | |
4801 | 7 | P/L | 8 | rs780021536 | 0.1861 | None | gnomAD-2.1.1 | 4.22E-06 | |
4801 | 7 | P/L | 8 | rs780021536 | 0.1861 | None | gnomAD-3.1.2 | 6.57E-06 | |
4801 | 7 | P/L | 8 | rs780021536 | 0.1861 | None | gnomAD-4.0.0 | 6.57289E-06 | |
4801 | 7 | P/T | 8 | None | 0.1861 | None | gnomAD-4.0.0 | 1.63352E-06 | |
4803 | 9 | S/C | 11 | None | 0.3155 | None | gnomAD-4.0.0 | 6.87705E-07 | |
4803 | 9 | S/F | 11 | rs774228049 | 0.3155 | None | gnomAD-2.1.1 | 4.11E-06 | |
4803 | 9 | S/F | 11 | rs774228049 | 0.3155 | None | gnomAD-4.0.0 | 1.10033E-05 | |
4803 | 9 | S/Y | 11 | None | 0.3155 | None | gnomAD-4.0.0 | 6.87705E-07 | |
4805 | 11 | T/I | 14 | rs2081384846 | 0.5851 | None | gnomAD-3.1.2 | 6.57E-06 | |
4805 | 11 | T/I | 14 | rs2081384846 | 0.5851 | None | gnomAD-4.0.0 | 6.57047E-06 | |
4805 | 11 | T/K | 14 | None | 0.5851 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4805 | 11 | T/P | 14 | rs1176268416 | 0.5851 | None | gnomAD-2.1.1 | 8.15E-06 | |
4805 | 11 | T/P | 14 | rs1176268416 | 0.5851 | None | gnomAD-4.0.0 | 3.202E-06 | |
4806 | 12 | T/A | 16 | rs2081384233 | 0.1586 | None | gnomAD-3.1.2 | 6.57E-06 | |
4806 | 12 | T/A | 16 | rs2081384233 | 0.1586 | None | gnomAD-4.0.0 | 6.57479E-06 | |
4806 | 12 | T/I | 16 | None | 0.1586 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4808 | 14 | V/M | 23 | None | 0.3055 | None | gnomAD-4.0.0 | 1.59814E-06 | |
4809 | 15 | G/D | 24 | rs757553783 | 0.2713 | None | gnomAD-2.1.1 | 4.05E-06 | |
4809 | 15 | G/D | 24 | rs757553783 | 0.2713 | None | gnomAD-4.0.0 | 3.42589E-06 | |
4809 | 15 | G/S | 24 | rs371784232 | 0.2713 | None | gnomAD-2.1.1 | 1.8E-05 | |
4809 | 15 | G/S | 24 | rs371784232 | 0.2713 | None | gnomAD-3.1.2 | 1.97E-05 | |
4809 | 15 | G/S | 24 | rs371784232 | 0.2713 | None | gnomAD-4.0.0 | 1.30318E-05 | |
4810 | 16 | K/Q | 25 | rs367630668 | 0.4500 | None | gnomAD-2.1.1 | 6.82E-05 | |
4810 | 16 | K/Q | 25 | rs367630668 | 0.4500 | None | gnomAD-3.1.2 | 3.94E-05 | |
4810 | 16 | K/Q | 25 | rs367630668 | 0.4500 | None | gnomAD-4.0.0 | 1.67492E-05 | |
4810 | 16 | K/R | 25 | rs375443901 | 0.4500 | None | gnomAD-2.1.1 | 4.04E-06 | |
4810 | 16 | K/R | 25 | rs375443901 | 0.4500 | None | gnomAD-3.1.2 | 2.63E-05 | |
4810 | 16 | K/R | 25 | rs375443901 | 0.4500 | None | gnomAD-4.0.0 | 7.70323E-06 | |
4811 | 17 | A/S | 26 | rs761096621 | 0.3787 | None | gnomAD-3.1.2 | 6.57E-06 | |
4811 | 17 | A/S | 26 | rs761096621 | 0.3787 | None | gnomAD-4.0.0 | 6.57186E-06 | |
4811 | 17 | A/T | 26 | rs761096621 | 0.3787 | None | gnomAD-2.1.1 | 4.04E-06 | |
4811 | 17 | A/T | 26 | rs761096621 | 0.3787 | None | gnomAD-4.0.0 | 2.74008E-06 | |
4812 | 18 | A/D | 28 | None | 0.2442 | None | gnomAD-4.0.0 | 1.59375E-06 | |
4812 | 18 | A/V | 28 | None | 0.2442 | None | gnomAD-4.0.0 | 1.59375E-06 | |
4813 | 19 | K/Q | 29 | None | 0.5902 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4813 | 19 | K/R | 29 | None | 0.5902 | None | gnomAD-4.0.0 | 1.5934E-06 | |
4814 | 20 | F/C | 30 | rs2081380830 | 0.1215 | None | gnomAD-4.0.0 | 1.36904E-06 | |
4814 | 20 | F/S | 30 | None | 0.1215 | None | gnomAD-4.0.0 | 6.84519E-07 | |
4815 | 21 | I/F | 31 | rs1284454958 | 0.4984 | None | gnomAD-2.1.1 | 4.03E-06 | |
4816 | 22 | C/W | 33 | rs2154314532 | 0.1043 | None | gnomAD-3.1.2 | 6.57E-06 | |
4816 | 22 | C/W | 33 | rs2154314532 | 0.1043 | None | gnomAD-4.0.0 | 4.05918E-06 | |
4817 | 23 | T/I | 34 | rs1299461448 | 0.2187 | None | gnomAD-2.1.1 | 3.18E-05 | |
4817 | 23 | T/I | 34 | rs1299461448 | 0.2187 | None | gnomAD-3.1.2 | 6.57E-06 | |
4817 | 23 | T/I | 34 | rs1299461448 | 0.2187 | None | gnomAD-4.0.0 | 2.56314E-06 | |
4819 | 25 | T/A | 38 | rs895286829 | 0.4876 | None | gnomAD-4.0.0 | 1.59144E-06 | |
4820 | 26 | G/E | 40 | rs376364888 | 0.3416 | None | gnomAD-2.1.1 | 1.78E-05 | |
4820 | 26 | G/E | 40 | rs376364888 | 0.3416 | None | gnomAD-3.1.2 | 1.97E-05 | |
4820 | 26 | G/E | 40 | rs376364888 | 0.3416 | None | gnomAD-4.0.0 | 1.30145E-05 | |
4820 | 26 | G/R | 40 | rs1247947470 | 0.3416 | None | gnomAD-3.1.2 | 6.57E-06 | |
4820 | 26 | G/R | 40 | rs1247947470 | 0.3416 | None | gnomAD-4.0.0 | 2.73695E-06 | |
4821 | 27 | T/I | 41 | rs1358712791 | 0.4643 | None | gnomAD-3.1.2 | 6.57E-06 | |
4821 | 27 | T/I | 41 | rs1358712791 | 0.4643 | None | gnomAD-4.0.0 | 6.57013E-06 | |
4822 | 28 | P/L | 42 | rs1381535545 | 0.7204 | None | gnomAD-2.1.1 | 4.02E-06 | |
4822 | 28 | P/L | 42 | rs1381535545 | 0.7204 | None | gnomAD-4.0.0 | 4.10534E-06 | |
4822 | 28 | P/S | 42 | rs762428750 | 0.7204 | None | gnomAD-2.1.1 | 2.81E-05 | |
4822 | 28 | P/S | 42 | rs762428750 | 0.7204 | None | gnomAD-3.1.2 | 1.31E-05 | |
4822 | 28 | P/S | 42 | rs762428750 | 0.7204 | None | gnomAD-4.0.0 | 1.11547E-05 | |
4823 | 29 | V/M | 43 | None | 0.7986 | None | gnomAD-4.0.0 | 1.59138E-06 | |
4824 | 30 | I/T | 44 | None | 0.1689 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4824 | 30 | I/V | 44 | rs772792515 | 0.1689 | None | gnomAD-2.1.1 | 4.02E-06 | |
4824 | 30 | I/V | 44 | rs772792515 | 0.1689 | None | gnomAD-4.0.0 | 1.5913E-06 | |
4825 | 31 | E/A | 45 | rs769228664 | 0.6382 | None | gnomAD-2.1.1 | 4.02E-06 | |
4825 | 31 | E/A | 45 | rs769228664 | 0.6382 | None | gnomAD-4.0.0 | 6.8421E-07 | |
4825 | 31 | E/V | 45 | None | 0.6382 | None | gnomAD-4.0.0 | 2.05263E-06 | |
4826 | 32 | T/A | 46 | rs1156737017 | 0.3117 | None | gnomAD-2.1.1 | 4.02E-06 | |
4826 | 32 | T/A | 46 | rs1156737017 | 0.3117 | None | gnomAD-4.0.0 | 1.59125E-06 | |
4826 | 32 | T/N | 46 | None | 0.3117 | None | gnomAD-4.0.0 | 1.59124E-06 | |
4827 | 33 | I/N | 47 | None | 0.4956 | None | gnomAD-4.0.0 | 6.84205E-07 | |
4827 | 33 | I/T | 47 | None | 0.4956 | None | gnomAD-4.0.0 | 6.84205E-07 | |
4828 | 34 | W/S | 48 | rs747830811 | 0.1367 | None | gnomAD-2.1.1 | 4.02E-06 | |
4829 | 35 | Q/K | 49 | rs748930233 | 0.3407 | None | gnomAD-2.1.1 | 4.02E-06 | |
4829 | 35 | Q/K | 49 | rs748930233 | 0.3407 | None | gnomAD-3.1.2 | 6.57E-06 | |
4829 | 35 | Q/K | 49 | rs748930233 | 0.3407 | None | gnomAD-4.0.0 | 2.10698E-05 | |
4829 | 35 | Q/P | 49 | rs375177753 | 0.3407 | None | gnomAD-2.1.1 | 1.21299E-04 | |
4829 | 35 | Q/P | 49 | rs375177753 | 0.3407 | None | gnomAD-3.1.2 | 1.70839E-04 | |
4829 | 35 | Q/P | 49 | rs375177753 | 0.3407 | None | gnomAD-4.0.0 | 1.9086E-04 | |
4831 | 37 | D/G | 51 | rs1257773327 | 0.5282 | None | gnomAD-2.1.1 | 4.02E-06 | |
4831 | 37 | D/G | 51 | rs1257773327 | 0.5282 | None | gnomAD-4.0.0 | 1.5912E-06 | |
4831 | 37 | D/N | 51 | None | 0.5282 | None | gnomAD-4.0.0 | 1.59123E-06 | |
4831 | 37 | D/Y | 51 | rs768490595 | 0.5282 | None | gnomAD-2.1.1 | 8.04E-06 | |
4831 | 37 | D/Y | 51 | rs768490595 | 0.5282 | None | gnomAD-3.1.2 | 6.57E-06 | |
4831 | 37 | D/Y | 51 | rs768490595 | 0.5282 | None | gnomAD-4.0.0 | 1.40915E-05 | |
4832 | 38 | G/D | 52 | rs1485727928 | 0.3590 | None | gnomAD-2.1.1 | 1.07E-05 | |
4832 | 38 | G/D | 52 | rs1485727928 | 0.3590 | None | gnomAD-3.1.2 | 6.57E-06 | |
4832 | 38 | G/D | 52 | rs1485727928 | 0.3590 | None | gnomAD-4.0.0 | 5.12409E-06 | |
4833 | 39 | A/T | 55 | rs1366438638 | 0.3212 | None | gnomAD-2.1.1 | 3.19E-05 | |
4833 | 39 | A/T | 55 | rs1366438638 | 0.3212 | None | gnomAD-3.1.2 | 6.57E-06 | |
4833 | 39 | A/T | 55 | rs1366438638 | 0.3212 | None | gnomAD-4.0.0 | 6.5716E-06 | |
4833 | 39 | A/V | 55 | rs1284562529 | 0.3212 | None | gnomAD-2.1.1 | 4.02E-06 | |
4833 | 39 | A/V | 55 | rs1284562529 | 0.3212 | None | gnomAD-4.0.0 | 2.05259E-06 | |
4834 | 40 | A/S | 56 | rs746792103 | 0.4549 | None | gnomAD-2.1.1 | 4.02E-06 | |
4834 | 40 | A/S | 56 | rs746792103 | 0.4549 | None | gnomAD-4.0.0 | 1.36839E-06 | |
4834 | 40 | A/T | 56 | None | 0.4549 | None | gnomAD-4.0.0 | 6.84197E-07 | |
4835 | 41 | L/R | 58 | None | 0.2012 | None | gnomAD-4.0.0 | 1.59113E-06 | |
4836 | 42 | S/P | 59 | None | 0.5651 | None | gnomAD-4.0.0 | 1.59116E-06 | |
4836 | 42 | S/T | 59 | None | 0.5651 | None | gnomAD-4.0.0 | 1.59116E-06 | |
4837 | 43 | P/H | 70 | rs1291141509 | 0.7185 | None | gnomAD-2.1.1 | 8.03E-06 | |
4837 | 43 | P/H | 70 | rs1291141509 | 0.7185 | None | gnomAD-4.0.0 | 1.36837E-06 | |
4837 | 43 | P/L | 70 | None | 0.7185 | None | gnomAD-4.0.0 | 3.42094E-06 | |
4838 | 44 | S/L | 73 | rs758347900 | 0.8466 | None | gnomAD-2.1.1 | 4.02E-06 | |
4838 | 44 | S/L | 73 | rs758347900 | 0.8466 | None | gnomAD-4.0.0 | 4.77339E-06 | |
4839 | 45 | P/H | 111 | rs1478089830 | 0.3471 | None | gnomAD-2.1.1 | 3.19E-05 | |
4839 | 45 | P/H | 111 | rs1478089830 | 0.3471 | None | gnomAD-3.1.2 | 1.31E-05 | |
4839 | 45 | P/H | 111 | rs1478089830 | 0.3471 | None | gnomAD-4.0.0 | 1.31439E-05 | |
4839 | 45 | P/T | 111 | None | 0.3471 | None | gnomAD-4.0.0 | 1.59113E-06 | |
4840 | 46 | N/H | 115 | rs199997460 | 0.1780 | None | gnomAD-2.1.1 | 7.85E-05 | |
4840 | 46 | N/H | 115 | rs199997460 | 0.1780 | None | gnomAD-3.1.2 | 7.89E-05 | |
4840 | 46 | N/H | 115 | rs199997460 | 0.1780 | None | gnomAD-4.0.0 | 1.25175E-04 | |
4840 | 46 | N/K | 115 | rs1162232624 | 0.1780 | None | gnomAD-4.0.0 | 1.59111E-06 | |
4840 | 46 | N/T | 115 | rs779078589 | 0.1780 | None | gnomAD-2.1.1 | 1.43E-05 | |
4840 | 46 | N/T | 115 | rs779078589 | 0.1780 | None | gnomAD-3.1.2 | 6.57E-06 | |
4840 | 46 | N/T | 115 | rs779078589 | 0.1780 | None | gnomAD-4.0.0 | 2.56203E-06 | |
4841 | 47 | W/R | 121 | rs2081362230 | 0.2638 | None | gnomAD-4.0.0 | 1.36836E-06 | |
4842 | 48 | R/G | 122 | rs1347409697 | 0.6225 | None | gnomAD-3.1.2 | 1.31E-05 | |
4842 | 48 | R/G | 122 | rs1347409697 | 0.6225 | None | gnomAD-4.0.0 | 5.1235E-06 | |
4842 | 48 | R/K | 122 | rs2742347 | 0.6225 | None | gnomAD-2.1.1 | 1.00529E-01 | |
4842 | 48 | R/K | 122 | rs2742347 | 0.6225 | None | gnomAD-3.1.2 | 1.11237E-01 | |
4842 | 48 | R/K | 122 | rs2742347 | 0.6225 | None | 1000 genomes | 1.44768E-01 | |
4842 | 48 | R/K | 122 | rs2742347 | 0.6225 | None | gnomAD-4.0.0 | 6.69259E-02 | |
4843 | 49 | I/T | 123 | rs1401764178 | 0.3637 | None | gnomAD-2.1.1 | 8.03E-06 | |
4843 | 49 | I/T | 123 | rs1401764178 | 0.3637 | None | gnomAD-4.0.0 | 4.77327E-06 | |
4845 | 51 | D/N | 127 | rs373378672 | 0.4463 | None | gnomAD-2.1.1 | 1.4269E-04 | |
4845 | 51 | D/N | 127 | rs373378672 | 0.4463 | None | gnomAD-3.1.2 | 1.64296E-04 | |
4845 | 51 | D/N | 127 | rs373378672 | 0.4463 | None | gnomAD-4.0.0 | 1.10913E-04 | |
4846 | 52 | A/S | 130 | rs752150323 | 0.3808 | None | gnomAD-2.1.1 | 4.02E-06 | |
4846 | 52 | A/T | 130 | rs752150323 | 0.3808 | None | gnomAD-2.1.1 | 3.57E-05 | |
4846 | 52 | A/T | 130 | rs752150323 | 0.3808 | None | gnomAD-3.1.2 | 1.97E-05 | |
4846 | 52 | A/T | 130 | rs752150323 | 0.3808 | None | gnomAD-4.0.0 | 3.71814E-05 | |
4850 | 56 | H/L | 136 | rs760092355 | 0.1085 | None | gnomAD-2.1.1 | 4.02E-06 | |
4850 | 56 | H/L | 136 | rs760092355 | 0.1085 | None | gnomAD-4.0.0 | 2.73675E-06 | |
4850 | 56 | H/R | 136 | None | 0.1085 | None | gnomAD-4.0.0 | 1.36838E-06 | |
4850 | 56 | H/Y | 136 | None | 0.1085 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4851 | 57 | I/S | 137 | None | 0.1457 | None | gnomAD-4.0.0 | 1.59117E-06 | |
4851 | 57 | I/V | 137 | rs1286288159 | 0.1457 | None | gnomAD-3.1.2 | 1.31E-05 | |
4851 | 57 | I/V | 137 | rs1286288159 | 0.1457 | None | gnomAD-4.0.0 | 4.05984E-06 | |
4853 | 59 | E/A | 139 | rs1264041107 | 0.2169 | None | gnomAD-3.1.2 | 6.57E-06 | |
4853 | 59 | E/A | 139 | rs1264041107 | 0.2169 | None | gnomAD-4.0.0 | 6.57099E-06 | |
4853 | 59 | E/Q | 139 | None | 0.2169 | None | gnomAD-4.0.0 | 1.59118E-06 | |
4854 | 60 | L/F | 140 | rs1196213888 | 0.0802 | None | gnomAD-2.1.1 | 4.02E-06 | |
4854 | 60 | L/F | 140 | rs1196213888 | 0.0802 | None | gnomAD-3.1.2 | 2.63E-05 | |
4854 | 60 | L/F | 140 | rs1196213888 | 0.0802 |
DCM |
Literature | None | |
4854 | 60 | L/F | 140 | rs1196213888 | 0.0802 | None | gnomAD-4.0.0 | 7.68582E-06 | |
4855 | 61 | S/L | 141 | None | 0.2983 | None | gnomAD-4.0.0 | 2.40065E-06 | |
4856 | 62 | N/K | 143 | None | 0.4297 | None | gnomAD-4.0.0 | 1.59115E-06 | |
4856 | 62 | N/S | 143 | None | 0.4297 | None | gnomAD-4.0.0 | 1.20033E-06 | |
4857 | 63 | L/F | 144 | None | 0.0740 | None | gnomAD-4.0.0 | 2.05257E-06 | |
4857 | 63 | L/I | 144 | None | 0.0740 | None | gnomAD-4.0.0 | 1.36838E-06 | |
4857 | 63 | L/R | 144 | rs1267218460 | 0.0740 | None | gnomAD-2.1.1 | 4.02E-06 | |
4857 | 63 | L/R | 144 | rs1267218460 | 0.0740 | None | gnomAD-4.0.0 | 3.18227E-06 | |
4858 | 64 | T/S | 145 | rs2081354978 | 0.2958 | None | gnomAD-4.0.0 | 1.59116E-06 | |
4860 | 66 | Q/K | 148 | None | 0.7646 | None | gnomAD-4.0.0 | 6.84193E-07 | |
4861 | 67 | D/G | 149 | rs566100734 | 0.1299 | None | gnomAD-4.0.0 | 1.59119E-06 | |
4861 | 67 | D/V | 149 | rs566100734 | 0.1299 | None | gnomAD-2.1.1 | 4.64E-05 | |
4861 | 67 | D/V | 149 | rs566100734 | 0.1299 | None | gnomAD-3.1.2 | 6.57E-06 | |
4861 | 67 | D/V | 149 | rs566100734 | 0.1299 | None | gnomAD-4.0.0 | 3.45855E-05 | |
4862 | 68 | R/G | 151 | rs952359009 | 0.3796 | None | gnomAD-2.1.1 | 4.02E-06 | |
4862 | 68 | R/G | 151 | rs952359009 | 0.3796 | None | gnomAD-3.1.2 | 1.97E-05 | |
4862 | 68 | R/G | 151 | rs952359009 | 0.3796 | None | gnomAD-4.0.0 | 1.97075E-05 | |
4862 | 68 | R/S | 151 | rs1260217446 | 0.3796 | None | gnomAD-4.0.0 | 1.59123E-06 | |
4862 | 68 | R/T | 151 | None | 0.3796 | None | gnomAD-4.0.0 | 1.59123E-06 | |
4863 | 69 | G/E | 152 | rs375680312 | 0.1590 | None | gnomAD-2.1.1 | 2.41E-05 | |
4863 | 69 | G/E | 152 | rs375680312 | 0.1590 | None | gnomAD-3.1.2 | 2.63E-05 | |
4863 | 69 | G/E | 152 | rs375680312 | 0.1590 | None | gnomAD-4.0.0 | 3.47031E-05 | |
4863 | 69 | G/R | 152 | None | 0.1590 | None | gnomAD-4.0.0 | 2.05264E-06 | |
4865 | 71 | Y/C | 154 | None | 0.0881 | None | gnomAD-4.0.0 | 2.05263E-06 | |
4865 | 71 | Y/N | 154 | None | 0.0881 | None | gnomAD-4.0.0 | 2.05265E-06 | |
4866 | 72 | S/F | 155 | rs1226951123 | 0.1221 | None | gnomAD-2.1.1 | 8.04E-06 | |
4866 | 72 | S/F | 155 | rs1226951123 | 0.1221 | None | gnomAD-4.0.0 | 3.18256E-06 | |
4866 | 72 | S/Y | 155 | None | 0.1221 | None | gnomAD-4.0.0 | 1.59128E-06 | |
4867 | 73 | C/F | 156 | rs2081352465 | 0.0644 | None | gnomAD-4.0.0 | 3.18258E-06 | |
4868 | 74 | K/E | 157 | rs1276077770 | 0.2516 | None | gnomAD-2.1.1 | 4.02E-06 | |
4868 | 74 | K/E | 157 | rs1276077770 | 0.2516 | None | gnomAD-4.0.0 | 1.5913E-06 | |
4868 | 74 | K/R | 157 | None | 0.2516 | None | gnomAD-4.0.0 | 2.40067E-06 | |
4869 | 75 | A/P | 158 | rs768296194 | 0.0857 | None | gnomAD-2.1.1 | 4.02E-06 | |
4869 | 75 | A/P | 158 | rs768296194 | 0.0857 | None | gnomAD-4.0.0 | 2.05268E-06 | |
4869 | 75 | A/S | 158 | rs768296194 | 0.0857 | None | gnomAD-3.1.2 | 6.57E-06 | |
4869 | 75 | A/S | 158 | rs768296194 | 0.0857 | None | gnomAD-4.0.0 | 1.85913E-06 | |
4870 | 76 | S/F | 159 | None | 0.2650 | None | gnomAD-4.0.0 | 1.59142E-06 | |
4871 | 77 | N/K | 161 | rs1182104962 | 0.1334 | None | gnomAD-2.1.1 | 4.02E-06 | |
4871 | 77 | N/K | 161 | rs1182104962 | 0.1334 | None | gnomAD-3.1.2 | 6.57E-06 | |
4871 | 77 | N/K | 161 | rs1182104962 | 0.1334 | None | gnomAD-4.0.0 | 6.57229E-06 | |
4872 | 78 | K/E | 162 | None | 0.7920 | None | gnomAD-4.0.0 | 1.59145E-06 | |
4872 | 78 | K/N | 162 | rs771719584 | 0.7920 | None | gnomAD-2.1.1 | 4.02E-06 | |
4872 | 78 | K/N | 162 | rs771719584 | 0.7920 | None | gnomAD-4.0.0 | 4.10548E-06 | |
4873 | 79 | F/L | 163 | None | 0.8474 | None | gnomAD-4.0.0 | 1.59142E-06 | |
4874 | 80 | G/V | 164 | None | 0.1809 | None | gnomAD-4.0.0 | 6.84249E-07 | |
4875 | 81 | A/G | 165 | rs369989679 | 0.4049 | None | gnomAD-2.1.1 | 2.82E-05 | |
4875 | 81 | A/G | 165 | rs369989679 | 0.4049 | None | gnomAD-3.1.2 | 3.29E-05 | |
4875 | 81 | A/G | 165 | rs369989679 | 0.4049 | None | 1000 genomes | 1.99681E-04 | |
4875 | 81 | A/G | 165 | rs369989679 | 0.4049 | None | gnomAD-4.0.0 | 1.11543E-05 | |
4877 | 83 | I/L | 168 | rs375193984 | 0.2559 | None | gnomAD-2.1.1 | 4.02E-06 | |
4877 | 83 | I/L | 168 | rs375193984 | 0.2559 | None | gnomAD-3.1.2 | 6.57E-06 | |
4877 | 83 | I/L | 168 | rs375193984 | 0.2559 | None | gnomAD-4.0.0 | 3.84345E-06 | |
4877 | 83 | I/N | 168 | rs757451049 | 0.2559 | None | gnomAD-2.1.1 | 4.02E-06 | |
4877 | 83 | I/N | 168 | rs757451049 | 0.2559 | None | gnomAD-4.0.0 | 1.59148E-06 | |
4878 | 84 | C/R | 169 | rs1420951928 | 0.0966 | None | gnomAD-2.1.1 | 4.03E-06 | |
4878 | 84 | C/R | 169 | rs1420951928 | 0.0966 | None | gnomAD-3.1.2 | 6.57E-06 | |
4878 | 84 | C/R | 169 | rs1420951928 | 0.0966 | None | gnomAD-4.0.0 | 2.56232E-06 | |
4878 | 84 | C/Y | 169 | rs546830236 | 0.0966 | None | gnomAD-2.1.1 | 2.82E-05 | |
4878 | 84 | C/Y | 169 | rs546830236 | 0.0966 | None | gnomAD-3.1.2 | 6.57E-06 | |
4878 | 84 | C/Y | 169 | rs546830236 | 0.0966 | None | 1000 genomes | 1.99681E-04 | |
4878 | 84 | C/Y | 169 | rs546830236 | 0.0966 | None | gnomAD-4.0.0 | 8.05603E-06 | |
4880 | 86 | A/V | 172 | rs373683445 | 0.1190 | None | gnomAD-2.1.1 | 4.29E-05 | |
4880 | 86 | A/V | 172 | rs373683445 | 0.1190 | None | gnomAD-3.1.2 | 1.31427E-04 | |
4880 | 86 | A/V | 172 | rs373683445 | 0.1190 | None | 1000 genomes | 1.99681E-04 | |
4880 | 86 | A/V | 172 | rs373683445 | 0.1190 | None | gnomAD-4.0.0 | 2.54071E-05 | |
4881 | 87 | E/D | 173 | rs781644443 | 0.4602 | None | gnomAD-2.1.1 | 1.07E-05 | |
4881 | 87 | E/D | 173 | rs781644443 | 0.4602 | None | gnomAD-3.1.2 | 2.63E-05 | |
4881 | 87 | E/D | 173 | rs781644443 | 0.4602 | None | gnomAD-4.0.0 | 2.29299E-05 | |
4881 | 87 | E/G | 173 | None | 0.4602 | None | gnomAD-4.0.0 | 1.59152E-06 | |
4881 | 87 | E/Q | 173 | rs756371735 | 0.4602 | None | gnomAD-4.0.0 | 3.60099E-06 | |
4881 | 87 | E/V | 173 | rs2081343515 | 0.4602 | None | gnomAD-4.0.0 | 3.18303E-06 | |
4882 | 88 | L/F | 174 | rs1197344089 | 0.0761 | None | gnomAD-4.0.0 | 1.36852E-06 | |
4882 | 88 | L/S | 174 | None | 0.0761 | None | gnomAD-4.0.0 | 2.73704E-06 | |
4883 | 89 | I/N | 175 | None | 0.3582 | None | gnomAD-4.0.0 | 1.59151E-06 | |
4883 | 89 | I/S | 175 | rs369548127 | 0.3582 | None | gnomAD-2.1.1 | 4.03E-06 | |
4883 | 89 | I/S | 175 | rs369548127 | 0.3582 | None | gnomAD-4.0.0 | 1.59151E-06 | |
4883 | 89 | I/T | 175 | rs369548127 | 0.3582 | None | gnomAD-2.1.1 | 4.03E-06 | |
4883 | 89 | I/T | 175 | rs369548127 | 0.3582 | None | gnomAD-4.0.0 | 3.18301E-06 | |
4884 | 90 | I/V | 177 | None | 0.2144 | None | gnomAD-4.0.0 | 1.20032E-06 |