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I | K | L | V | R | P | L | H | S | V | E | V | M | E | T | E | T | A | R | F | E | T | E | I | S | E | D | D | I | H | A | N | W | K | L | K | G | E | A | L | L | Q | T | P | D | C | E | I | K | E | E | G | K | I | H | S | L | V | L | H | N | C | R | L | D | Q | T | G | G | V | D | F | Q | A | A | N | V | K | S | S | A | H | L | R | V | K | P | R | V | I | G | L | L | R | P | L | K | D | V | T | V | T | A | G | E | T | A | T | F | D | C | E | L | S | Y | E | D | I | P | V | E | W | Y | L | K | G | K | K | L | E | P | S | D | K | V | V | P | R | S | E | G | K | V | H | T | L | T | L | R | D | V | K | L | E | D | A | G | E | V | Q | L | T | A | K | D | F | K | T | H | A | N | L |
I | K | L | V | R | P | L | H | S | V | E | V | M | E | T | E | T | A | R | F | E | T | E | I | S | E | D | D | I | H | A | N | W | K | L | K | G | E | A | L | L | Q | T | P | D | C | E | I | K | E | E | G | K | I | H | S | L | V | L | H | N | C | R | L | D | Q | T | G | G | V | D | F | Q | A | A | N | V | K | S | S | A | H | L | R | V | K | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
14675 | 1 | I/T | 1 | None | 0.5209 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14675 | 1 | I/V | 1 | rs1384628153 | 0.5209 | None | gnomAD-4.0.0 | 2.0558E-06 | |
14677 | 3 | L/P | 3 | None | 0.2566 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14677 | 3 | L/V | 3 | None | 0.2566 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14678 | 4 | V/E | 4 | None | 0.3199 | None | gnomAD-4.0.0 | 1.59644E-06 | |
14678 | 4 | V/L | 4 | None | 0.3199 | None | gnomAD-4.0.0 | 6.85168E-07 | |
14678 | 4 | V/M | 4 | rs761738561 | 0.3199 | None | gnomAD-2.1.1 | 8.12E-06 | |
14678 | 4 | V/M | 4 | rs761738561 | 0.3199 | None | gnomAD-3.1.2 | 1.32E-05 | |
14678 | 4 | V/M | 4 | rs761738561 | 0.3199 | None | gnomAD-4.0.0 | 2.48222E-06 | |
14679 | 5 | R/Q | 5 | rs369709751 | 0.5684 | None | gnomAD-2.1.1 | 1.04341E-04 | |
14679 | 5 | R/Q | 5 | rs369709751 | 0.5684 | None | gnomAD-3.1.2 | 9.87E-05 | |
14679 | 5 | R/Q | 5 | rs369709751 | 0.5684 | None | gnomAD-4.0.0 | 7.26008E-05 | |
14680 | 6 | P/A | 7 | None | 0.3766 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14680 | 6 | P/L | 7 | None | 0.3766 | None | gnomAD-4.0.0 | 3.60097E-06 | |
14683 | 9 | S/G | 11 | None | 0.3783 | None | gnomAD-4.0.0 | 1.59433E-06 | |
14684 | 10 | V/L | 13 | rs2059719746 | 0.1449 | None | gnomAD-4.0.0 | 6.8445E-07 | |
14684 | 10 | V/M | 13 | rs2059719746 | 0.1449 | None | gnomAD-4.0.0 | 1.3689E-06 | |
14685 | 11 | E/K | 14 | rs1473069344 | 0.3914 | None | gnomAD-2.1.1 | 4.03E-06 | |
14685 | 11 | E/K | 14 | rs1473069344 | 0.3914 | None | gnomAD-3.1.2 | 1.32E-05 | |
14685 | 11 | E/K | 14 | rs1473069344 | 0.3914 | None | gnomAD-4.0.0 | 1.79467E-05 | |
14687 | 13 | M/I | 18 | rs775432065 | 0.1454 | None | gnomAD-2.1.1 | 8.05E-06 | |
14687 | 13 | M/I | 18 | rs775432065 | 0.1454 | None | gnomAD-4.0.0 | 3.18504E-06 | |
14687 | 13 | M/K | 18 | rs2059719184 | 0.1454 | None | gnomAD-4.0.0 | 6.84431E-07 | |
14687 | 13 | M/L | 18 | None | 0.1454 | None | gnomAD-4.0.0 | 1.59256E-06 | |
14687 | 13 | M/T | 18 | rs2059719184 | 0.1454 | None | gnomAD-4.0.0 | 3.42215E-06 | |
14688 | 14 | E/Q | 23 | rs2059718388 | 0.4362 | None | gnomAD-4.0.0 | 3.42218E-06 | |
14690 | 16 | E/G | 25 | None | 0.2034 | None | gnomAD-4.0.0 | 1.59243E-06 | |
14690 | 16 | E/K | 25 | None | 0.2034 | None | gnomAD-4.0.0 | 1.59245E-06 | |
14691 | 17 | T/I | 26 | rs1048028645 | 0.2276 | None | gnomAD-3.1.2 | 6.58E-06 | |
14691 | 17 | T/I | 26 | rs1048028645 | 0.2276 | None | gnomAD-4.0.0 | 3.84595E-06 | |
14691 | 17 | T/K | 26 | rs1048028645 | 0.2276 | None | gnomAD-4.0.0 | 1.59241E-06 | |
14693 | 19 | R/C | 29 | rs200445568 | 0.5179 | None | gnomAD-2.1.1 | 2.32251E-04 | |
14693 | 19 | R/C | 29 | rs200445568 | 0.5179 | None | gnomAD-3.1.2 | 7.56479E-04 | |
14693 | 19 | R/C | 29 | rs200445568 | 0.5179 | None | 1000 genomes | 5.99042E-04 | |
14693 | 19 | R/C | 29 | rs200445568 | 0.5179 | None | gnomAD-4.0.0 | 1.50009E-04 | |
14693 | 19 | R/H | 29 | rs746380621 | 0.5179 | None | gnomAD-2.1.1 | 6.79E-05 | |
14693 | 19 | R/H | 29 | rs746380621 | 0.5179 | None | gnomAD-3.1.2 | 5.26E-05 | |
14693 | 19 | R/H | 29 | rs746380621 | 0.5179 | None | gnomAD-4.0.0 | 4.71128E-05 | |
14694 | 20 | F/L | 30 | None | 0.0875 | None | gnomAD-4.0.0 | 1.59233E-06 | |
14697 | 23 | E/K | 34 | rs1356852922 | 0.1946 | None | gnomAD-2.1.1 | 1.07E-05 | |
14697 | 23 | E/K | 34 | rs1356852922 | 0.1946 | None | gnomAD-3.1.2 | 2.63E-05 | |
14697 | 23 | E/K | 34 | rs1356852922 | 0.1946 | None | gnomAD-4.0.0 | 1.41008E-05 | |
14699 | 25 | S/C | 38 | rs1293270234 | 0.1860 | None | gnomAD-2.1.1 | 8.04E-06 | |
14699 | 25 | S/C | 38 | rs1293270234 | 0.1860 | None | gnomAD-4.0.0 | 4.77686E-06 | |
14700 | 26 | E/D | 41 | None | 0.2818 | None | gnomAD-4.0.0 | 1.59225E-06 | |
14701 | 27 | D/A | 42 | rs1286396788 | 0.5732 | None | gnomAD-3.1.2 | 6.57E-06 | |
14701 | 27 | D/A | 42 | rs1286396788 | 0.5732 | None | gnomAD-4.0.0 | 6.57341E-06 | |
14701 | 27 | D/G | 42 | None | 0.5732 | None | gnomAD-4.0.0 | 1.5922E-06 | |
14702 | 28 | D/H | 43 | rs727503627 | 1.0832 | None | gnomAD-2.1.1 | 1.61E-05 | |
14702 | 28 | D/H | 43 | rs727503627 | 1.0832 | None | gnomAD-4.0.0 | 9.5535E-06 | |
14703 | 29 | I/S | 44 | rs2059714410 | 0.3082 | None | gnomAD-3.1.2 | 6.58E-06 | |
14703 | 29 | I/S | 44 | rs2059714410 | 0.3082 | None | gnomAD-4.0.0 | 6.57575E-06 | |
14705 | 31 | A/D | 46 | None | 0.1063 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14705 | 31 | A/S | 46 | None | 0.1063 | None | gnomAD-4.0.0 | 6.84425E-07 | |
14705 | 31 | A/T | 46 | rs751017081 | 0.1063 | None | gnomAD-2.1.1 | 1.78E-05 | |
14705 | 31 | A/T | 46 | rs751017081 | 0.1063 | None | gnomAD-3.1.2 | 3.29E-05 | |
14705 | 31 | A/T | 46 | rs751017081 | 0.1063 | None | gnomAD-4.0.0 | 7.43877E-06 | |
14706 | 32 | N/S | 47 | rs878854309 | 0.6345 | None | gnomAD-2.1.1 | 3.19E-05 | |
14708 | 34 | K/N | 49 | None | 0.4501 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14708 | 34 | K/R | 49 | None | 0.4501 | None | gnomAD-4.0.0 | 6.84408E-07 | |
14708 | 34 | K/T | 49 | rs765822597 | 0.4501 | None | gnomAD-2.1.1 | 8.04E-06 | |
14708 | 34 | K/T | 49 | rs765822597 | 0.4501 | None | gnomAD-3.1.2 | 3.29E-05 | |
14708 | 34 | K/T | 49 | rs765822597 | 0.4501 | None | gnomAD-4.0.0 | 4.33911E-06 | |
14709 | 35 | L/I | 50 | None | 0.1975 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14710 | 36 | K/N | 51 | None | 0.4291 | None | gnomAD-4.0.0 | 6.84456E-07 | |
14710 | 36 | K/Q | 51 | None | 0.4291 | None | gnomAD-4.0.0 | 2.05388E-06 | |
14712 | 38 | E/D | 55 | rs377495241 | 0.7828 | None | gnomAD-2.1.1 | 4.02E-06 | |
14712 | 38 | E/D | 55 | rs377495241 | 0.7828 | None | gnomAD-4.0.0 | 6.8455E-07 | |
14713 | 39 | A/D | 56 | rs750296112 | 0.4832 | None | gnomAD-2.1.1 | 4.02E-06 | |
14713 | 39 | A/D | 56 | rs750296112 | 0.4832 | None | gnomAD-4.0.0 | 3.18621E-06 | |
14713 | 39 | A/G | 56 | None | 0.4832 | None | gnomAD-4.0.0 | 1.5931E-06 | |
14713 | 39 | A/T | 56 | rs1476356250 | 0.4832 | None | gnomAD-3.1.2 | 1.32E-05 | |
14713 | 39 | A/T | 56 | rs1476356250 | 0.4832 | None | gnomAD-4.0.0 | 2.48017E-06 | |
14714 | 40 | L/I | 58 | None | 0.2276 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14714 | 40 | L/P | 58 | rs188047410 | 0.2276 | None | gnomAD-2.1.1 | 4.03E-06 | |
14714 | 40 | L/P | 58 | rs188047410 | 0.2276 | None | gnomAD-3.1.2 | 6.57E-06 | |
14714 | 40 | L/P | 58 | rs188047410 | 0.2276 | None | 1000 genomes | 1.99681E-04 | |
14714 | 40 | L/P | 58 | rs188047410 | 0.2276 | None | gnomAD-4.0.0 | 2.56507E-06 | |
14715 | 41 | L/F | 59 | rs1448072807 | 0.9121 | None | gnomAD-3.1.2 | 6.58E-06 | |
14715 | 41 | L/F | 59 | rs1448072807 | 0.9121 | None | gnomAD-4.0.0 | 2.56581E-06 | |
14715 | 41 | L/I | 59 | rs1448072807 | 0.9121 | None | gnomAD-2.1.1 | 3.19E-05 | |
14715 | 41 | L/I | 59 | rs1448072807 | 0.9121 | None | gnomAD-3.1.2 | 6.58E-06 | |
14715 | 41 | L/I | 59 | rs1448072807 | 0.9121 | None | gnomAD-4.0.0 | 6.57514E-06 | |
14715 | 41 | L/P | 59 | None | 0.9121 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14718 | 44 | P/L | 111 | rs761687390 | 0.7703 | None | gnomAD-2.1.1 | 4.05E-06 | |
14718 | 44 | P/L | 111 | rs761687390 | 0.7703 | None | gnomAD-4.0.0 | 1.37036E-06 | |
14720 | 46 | C/F | 121 | rs752834664 | 0.1155 | None | gnomAD-2.1.1 | 1.7E-05 | |
14720 | 46 | C/F | 121 | rs752834664 | 0.1155 | None | gnomAD-3.1.2 | 6.58E-06 | |
14720 | 46 | C/F | 121 | rs752834664 | 0.1155 | None | gnomAD-4.0.0 | 1.93823E-05 | |
14722 | 48 | I/V | 123 | None | 0.2102 | None | gnomAD-4.0.0 | 1.60139E-06 | |
14724 | 50 | E/K | 127 | rs1458591077 | 0.3631 | None | gnomAD-2.1.1 | 8.22E-06 | |
14724 | 50 | E/K | 127 | rs1458591077 | 0.3631 | None | gnomAD-4.0.0 | 1.60181E-06 | |
14725 | 51 | E/G | 130 | None | 0.6495 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14726 | 52 | G/S | 131 | rs767831350 | 0.2974 | None | gnomAD-2.1.1 | 1.23E-05 | |
14726 | 52 | G/S | 131 | rs767831350 | 0.2974 | None | gnomAD-3.1.2 | 1.32E-05 | |
14726 | 52 | G/S | 131 | rs767831350 | 0.2974 | None | gnomAD-4.0.0 | 6.43738E-06 | |
14728 | 54 | I/L | 135 | None | 0.3470 | None | gnomAD-4.0.0 | 1.59929E-06 | |
14728 | 54 | I/M | 135 | rs572315033 | 0.3470 | None | gnomAD-2.1.1 | 4.08E-06 | |
14728 | 54 | I/M | 135 | rs572315033 | 0.3470 | None | gnomAD-3.1.2 | 6.57E-06 | |
14728 | 54 | I/M | 135 | rs572315033 | 0.3470 | None | 1000 genomes | 1.99681E-04 | |
14728 | 54 | I/M | 135 | rs572315033 | 0.3470 | None | gnomAD-4.0.0 | 1.86256E-05 | |
14728 | 54 | I/T | 135 | None | 0.3470 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14729 | 55 | H/R | 136 | rs774485726 | 0.1089 | None | gnomAD-2.1.1 | 4.06E-06 | |
14729 | 55 | H/R | 136 | rs774485726 | 0.1089 | None | gnomAD-4.0.0 | 1.37065E-06 | |
14729 | 55 | H/Y | 136 | None | 0.1089 | None | gnomAD-4.0.0 | 1.20033E-06 | |
14730 | 56 | S/F | 137 | None | 0.1624 | None | gnomAD-4.0.0 | 1.59593E-06 | |
14731 | 57 | L/F | 138 | rs771361227 | 0.0669 | None | gnomAD-2.1.1 | 1.13242E-04 | |
14731 | 57 | L/F | 138 | rs771361227 | 0.0669 | None | gnomAD-3.1.2 | 4.6E-05 | |
14731 | 57 | L/F | 138 | rs771361227 | 0.0669 | None | gnomAD-4.0.0 | 6.45231E-05 | |
14733 | 59 | L/S | 140 | None | 0.1534 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14735 | 61 | N/D | 143 | None | 0.5847 | None | gnomAD-4.0.0 | 1.59319E-06 | |
14735 | 61 | N/K | 143 | rs773518259 | 0.5847 | None | gnomAD-2.1.1 | 4.03E-06 | |
14735 | 61 | N/K | 143 | rs773518259 | 0.5847 | None | gnomAD-4.0.0 | 3.18619E-06 | |
14735 | 61 | N/S | 143 | rs763464756 | 0.5847 | None | gnomAD-2.1.1 | 4.03E-06 | |
14735 | 61 | N/S | 143 | rs763464756 | 0.5847 | None | gnomAD-4.0.0 | 4.79188E-06 | |
14736 | 62 | C/S | 144 | None | 0.0773 | None | gnomAD-4.0.0 | 1.59311E-06 | |
14737 | 63 | R/C | 145 | rs748593243 | 0.6411 | None | gnomAD-2.1.1 | 4.03E-06 | |
14737 | 63 | R/C | 145 | rs748593243 | 0.6411 | None | gnomAD-3.1.2 | 6.58E-06 | |
14737 | 63 | R/C | 145 | rs748593243 | 0.6411 | None | gnomAD-4.0.0 | 6.20039E-06 | |
14737 | 63 | R/H | 145 | rs373298007 | 0.6411 | None | gnomAD-2.1.1 | 1.39432E-04 | |
14737 | 63 | R/H | 145 | rs373298007 | 0.6411 | None | gnomAD-3.1.2 | 1.57924E-04 | |
14737 | 63 | R/H | 145 | rs373298007 | 0.6411 | None | 1000 genomes | 3.99361E-04 | |
14737 | 63 | R/H | 145 | rs373298007 | 0.6411 | None | gnomAD-4.0.0 | 5.14578E-05 | |
14737 | 63 | R/L | 145 | rs373298007 | 0.6411 | None | gnomAD-2.1.1 | 2.03785E-04 | |
14737 | 63 | R/L | 145 | rs373298007 | 0.6411 | None | gnomAD-3.1.2 | 1.31603E-04 | |
14737 | 63 | R/L | 145 | rs373298007 | 0.6411 | None | 1000 genomes | 5.99042E-04 | |
14737 | 63 | R/L | 145 | rs373298007 | 0.6411 | None | gnomAD-4.0.0 | 6.88171E-05 | |
14738 | 64 | L/V | 146 | rs2154219916 | 0.6053 | None | gnomAD-4.0.0 | 6.84516E-07 | |
14740 | 66 | Q/H | 149 | None | 0.2792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14741 | 67 | T/A | 151 | rs745305661 | 0.3361 | None | gnomAD-2.1.1 | 4.02E-06 | |
14741 | 67 | T/A | 151 | rs745305661 | 0.3361 | None | gnomAD-4.0.0 | 1.59272E-06 | |
14741 | 67 | T/M | 151 | rs778576436 | 0.3361 | None | gnomAD-2.1.1 | 2.41E-05 | |
14741 | 67 | T/M | 151 | rs778576436 | 0.3361 | None | gnomAD-4.0.0 | 2.0535E-05 | |
14742 | 68 | G/D | 152 | rs1430202679 | 0.1390 | None | gnomAD-3.1.2 | 6.58E-06 | |
14742 | 68 | G/D | 152 | rs1430202679 | 0.1390 | None | gnomAD-4.0.0 | 6.5754E-06 | |
14742 | 68 | G/R | 152 | None | 0.1390 | None | gnomAD-4.0.0 | 6.8448E-07 | |
14742 | 68 | G/S | 152 | None | 0.1390 | None | gnomAD-4.0.0 | 1.36896E-06 | |
14743 | 69 | G/E | 153 | rs753855392 | 0.1968 | None | gnomAD-2.1.1 | 4.02E-06 | |
14744 | 70 | V/M | 154 | rs1465329711 | 0.0777 | None | gnomAD-3.1.2 | 6.58E-06 | |
14744 | 70 | V/M | 154 | rs1465329711 | 0.0777 | None | gnomAD-4.0.0 | 2.47987E-06 | |
14748 | 74 | A/V | 158 | None | 0.0966 | None | gnomAD-4.0.0 | 1.59264E-06 | |
14750 | 76 | N/H | 161 | rs1299201088 | 0.7540 | None | gnomAD-2.1.1 | 3.19E-05 | |
14750 | 76 | N/H | 161 | rs1299201088 | 0.7540 | None | gnomAD-3.1.2 | 1.31E-05 | |
14750 | 76 | N/H | 161 | rs1299201088 | 0.7540 | None | gnomAD-4.0.0 | 1.31496E-05 | |
14750 | 76 | N/S | 161 | rs767633080 | 0.7540 | None | gnomAD-2.1.1 | 8.05E-06 | |
14750 | 76 | N/S | 161 | rs767633080 | 0.7540 | None | gnomAD-3.1.2 | 1.31E-05 | |
14750 | 76 | N/S | 161 | rs767633080 | 0.7540 | None | gnomAD-4.0.0 | 5.57919E-06 | |
14750 | 76 | N/Y | 161 | None | 0.7540 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14751 | 77 | V/I | 162 | rs1293013607 | 0.1404 | None | gnomAD-4.0.0 | 6.00162E-06 | |
14753 | 79 | S/Y | 164 | None | 0.1226 | None | gnomAD-4.0.0 | 1.5927E-06 | |
14754 | 80 | S/I | 165 | rs377344521 | 0.4301 | None | gnomAD-3.1.2 | 6.58E-06 | |
14754 | 80 | S/I | 165 | rs377344521 | 0.4301 | None | gnomAD-4.0.0 | 1.2399E-06 | |
14754 | 80 | S/T | 165 | rs377344521 | 0.4301 | None | gnomAD-2.1.1 | 1.21E-05 | |
14754 | 80 | S/T | 165 | rs377344521 | 0.4301 | None | gnomAD-3.1.2 | 6.58E-06 | |
14754 | 80 | S/T | 165 | rs377344521 | 0.4301 | None | gnomAD-4.0.0 | 2.4798E-06 | |
14755 | 81 | A/V | 166 | None | 0.1086 | None | gnomAD-4.0.0 | 1.08029E-05 | |
14756 | 82 | H/N | 173 | None | 0.3796 | None | gnomAD-4.0.0 | 1.59299E-06 | |
14756 | 82 | H/Y | 173 | rs766470098 | 0.3796 | None | gnomAD-2.1.1 | 4.03E-06 | |
14756 | 82 | H/Y | 173 | rs766470098 | 0.3796 | None | gnomAD-4.0.0 | 1.59299E-06 | |
14757 | 83 | L/F | 174 | None | 0.0936 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14758 | 84 | R/G | 175 | None | 0.5546 | None | gnomAD-4.0.0 | 1.36911E-06 | |
14758 | 84 | R/P | 175 | None | 0.5546 | None | gnomAD-4.0.0 | 1.36908E-06 | |
14758 | 84 | R/Q | 175 | rs770389312 | 0.5546 | None | gnomAD-2.1.1 | 3.22E-05 | |
14758 | 84 | R/Q | 175 | rs770389312 | 0.5546 | None | gnomAD-3.1.2 | 5.26E-05 | |
14758 | 84 | R/Q | 175 | rs770389312 | 0.5546 | None | gnomAD-4.0.0 | 5.0841E-05 | |
14759 | 85 | V/D | 176 | None | 0.1403 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14760 | 86 | K/E | 177 | None | 0.4457 | None | gnomAD-4.0.0 | 6.84556E-07 | |
14760 | 86 | K/R | 177 | rs2059635881 | 0.4457 | None | gnomAD-4.0.0 | 1.20032E-06 |