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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
14586 | 1 | P/A | 1 | rs2059766641 | 0.3479 | None | gnomAD-3.1.2 | 6.58E-06 | |
14586 | 1 | P/A | 1 | rs2059766641 | 0.3479 | None | gnomAD-4.0.0 | 5.17106E-06 | |
14586 | 1 | P/T | 1 | None | 0.3479 | None | gnomAD-4.0.0 | 1.60865E-06 | |
14587 | 2 | Y/H | 2 | rs774085986 | 0.1875 | None | gnomAD-2.1.1 | 1.84E-05 | |
14587 | 2 | Y/H | 2 | rs774085986 | 0.1875 | None | gnomAD-3.1.2 | 6.57E-06 | |
14587 | 2 | Y/H | 2 | rs774085986 | 0.1875 | None | gnomAD-4.0.0 | 8.70502E-06 | |
14589 | 4 | T/I | 4 | rs1171658402 | 0.2931 | None | gnomAD-2.1.1 | 8.28E-06 | |
14589 | 4 | T/I | 4 | rs1171658402 | 0.2931 | None | gnomAD-3.1.2 | 1.97E-05 | |
14589 | 4 | T/I | 4 | rs1171658402 | 0.2931 | None | gnomAD-4.0.0 | 6.21555E-06 | |
14590 | 5 | G/R | 5 | None | 0.1870 | None | gnomAD-4.0.0 | 7.54763E-06 | |
14592 | 7 | L/F | 8 | rs1480406198 | 0.1314 | None | gnomAD-2.1.1 | 4.11E-06 | |
14592 | 7 | L/F | 8 | rs1480406198 | 0.1314 | None | gnomAD-4.0.0 | 5.48673E-06 | |
14594 | 9 | D/G | 11 | None | 0.5145 | None | gnomAD-4.0.0 | 3.19667E-06 | |
14596 | 11 | T/A | 14 | rs770795900 | 0.6103 | None | gnomAD-2.1.1 | 4.08E-06 | |
14596 | 11 | T/A | 14 | rs770795900 | 0.6103 | None | gnomAD-4.0.0 | 4.79126E-06 | |
14596 | 11 | T/I | 14 | None | 0.6103 | None | gnomAD-4.0.0 | 2.40068E-06 | |
14596 | 11 | T/S | 14 | None | 0.6103 | None | gnomAD-4.0.0 | 1.20034E-06 | |
14599 | 14 | E/A | 23 | None | 0.4543 | None | gnomAD-4.0.0 | 6.84963E-07 | |
14599 | 14 | E/G | 23 | rs918346918 | 0.4543 | None | gnomAD-4.0.0 | 6.84963E-07 | |
14599 | 14 | E/K | 23 | None | 0.4543 | None | gnomAD-4.0.0 | 4.79484E-06 | |
14599 | 14 | E/Q | 23 | rs879113246 | 0.4543 | None | gnomAD-3.1.2 | 1.31E-05 | |
14599 | 14 | E/Q | 23 | rs879113246 | 0.4543 | None | gnomAD-4.0.0 | 2.48139E-06 | |
14600 | 15 | K/E | 24 | rs543588487 | 0.5481 | None | gnomAD-2.1.1 | 1.44E-05 | |
14600 | 15 | K/E | 24 | rs543588487 | 0.5481 | None | gnomAD-3.1.2 | 1.32E-05 | |
14600 | 15 | K/E | 24 | rs543588487 | 0.5481 | None | 1000 genomes | 1.99681E-04 | |
14600 | 15 | K/E | 24 | rs543588487 | 0.5481 | None | gnomAD-4.0.0 | 6.41722E-06 | |
14600 | 15 | K/N | 24 | rs769967388 | 0.5481 | None | gnomAD-4.0.0 | 2.05463E-06 | |
14601 | 16 | D/E | 25 | rs748236664 | 0.5999 | None | gnomAD-2.1.1 | 4.06E-06 | |
14601 | 16 | D/E | 25 | rs748236664 | 0.5999 | None | gnomAD-4.0.0 | 1.59455E-06 | |
14603 | 18 | V/I | 28 | rs2154220273 | 0.1425 | None | gnomAD-4.0.0 | 3.18894E-06 | |
14605 | 20 | L/I | 30 | rs1251970273 | 0.1323 | None | gnomAD-2.1.1 | 4.05E-06 | |
14605 | 20 | L/I | 30 | rs1251970273 | 0.1323 | None | gnomAD-4.0.0 | 2.05409E-06 | |
14605 | 20 | L/P | 30 | None | 0.1323 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14607 | 22 | C/R | 33 | None | 0.0759 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14607 | 22 | C/Y | 33 | rs781427869 | 0.0759 | None | gnomAD-2.1.1 | 1.21E-05 | |
14607 | 22 | C/Y | 33 | rs781427869 | 0.0759 | None | gnomAD-3.1.2 | 6.58E-06 | |
14607 | 22 | C/Y | 33 | rs781427869 | 0.0759 | None | gnomAD-4.0.0 | 5.58056E-06 | |
14609 | 24 | I/L | 35 | None | 0.0832 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14610 | 25 | S/R | 38 | None | 0.1447 | None | gnomAD-4.0.0 | 1.36913E-06 | |
14612 | 27 | A/E | 41 | rs965521601 | 0.3322 | None | gnomAD-2.1.1 | 6.38E-05 | |
14612 | 27 | A/E | 41 | rs965521601 | 0.3322 | None | gnomAD-3.1.2 | 1.32E-05 | |
14612 | 27 | A/E | 41 | rs965521601 | 0.3322 | None | gnomAD-4.0.0 | 1.67398E-05 | |
14615 | 30 | P/L | 45 | rs1281092990 | 0.7386 | None | gnomAD-2.1.1 | 4.04E-06 | |
14615 | 30 | P/L | 45 | rs1281092990 | 0.7386 | None | gnomAD-4.0.0 | 2.05345E-06 | |
14616 | 31 | V/A | 46 | None | 0.2747 | None | gnomAD-4.0.0 | 6.16008E-06 | |
14618 | 33 | W/L | 48 | None | 0.1478 | None | gnomAD-4.0.0 | 6.84456E-07 | |
14618 | 33 | W/R | 48 | rs1307996353 | 0.1478 | None | gnomAD-3.1.2 | 6.58E-06 | |
14618 | 33 | W/R | 48 | rs1307996353 | 0.1478 | None | gnomAD-4.0.0 | 6.5773E-06 | |
14619 | 34 | F/I | 49 | None | 0.2137 | None | gnomAD-4.0.0 | 1.36891E-06 | |
14619 | 34 | F/L | 49 | rs202179380 | 0.2137 | None | gnomAD-3.1.2 | 1.31E-05 | |
14619 | 34 | F/L | 49 | rs202179380 | 0.2137 | None | gnomAD-4.0.0 | 6.84455E-07 | |
14620 | 35 | K/N | 50 | rs1235935495 | 0.1384 | None | gnomAD-3.1.2 | 6.57E-06 | |
14620 | 35 | K/N | 50 | rs1235935495 | 0.1384 | None | gnomAD-4.0.0 | 1.23982E-06 | |
14620 | 35 | K/T | 50 | None | 0.1384 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14621 | 36 | D/N | 51 | rs374032491 | 0.5459 | None | gnomAD-2.1.1 | 7.66E-05 | |
14621 | 36 | D/N | 51 | rs374032491 | 0.5459 | None | gnomAD-3.1.2 | 6.57E-06 | |
14621 | 36 | D/N | 51 | rs374032491 | 0.5459 | None | gnomAD-4.0.0 | 2.97557E-05 | |
14623 | 38 | K/R | 55 | None | 0.8000 | None | gnomAD-4.0.0 | 1.59244E-06 | |
14626 | 41 | K/R | 59 | rs2059753756 | 0.8518 | None | gnomAD-4.0.0 | 6.00161E-06 | |
14626 | 41 | K/T | 59 | None | 0.8518 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14628 | 43 | S/F | 73 | None | 0.3725 | None | gnomAD-4.0.0 | 1.59238E-06 | |
14629 | 44 | K/R | 111 | None | 1.0672 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14631 | 46 | A/T | 121 | None | 0.2012 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14631 | 46 | A/V | 121 | rs1237863283 | 0.2012 | None | gnomAD-3.1.2 | 6.58E-06 | |
14631 | 46 | A/V | 121 | rs1237863283 | 0.2012 | None | gnomAD-4.0.0 | 1.23982E-06 | |
14632 | 47 | V/A | 122 | rs750807748 | 0.3272 | None | gnomAD-2.1.1 | 4.03E-06 | |
14632 | 47 | V/A | 122 | rs750807748 | 0.3272 | None | gnomAD-4.0.0 | 1.36877E-06 | |
14632 | 47 | V/I | 122 | rs1456607091 | 0.3272 | None | gnomAD-3.1.2 | 6.58E-06 | |
14632 | 47 | V/I | 122 | rs1456607091 | 0.3272 | None | gnomAD-4.0.0 | 6.57531E-06 | |
14633 | 48 | I/F | 123 | None | 0.3064 | None | gnomAD-4.0.0 | 6.84391E-07 | |
14633 | 48 | I/V | 123 | rs2059751227 | 0.3064 | None | gnomAD-4.0.0 | 1.36878E-06 | |
14634 | 49 | K/N | 125 | rs763794623 | 0.5780 | None | gnomAD-2.1.1 | 8.05E-06 | |
14634 | 49 | K/N | 125 | rs763794623 | 0.5780 | None | gnomAD-4.0.0 | 2.05321E-06 | |
14634 | 49 | K/Q | 125 | None | 0.5780 | None | gnomAD-4.0.0 | 1.59224E-06 | |
14634 | 49 | K/R | 125 | None | 0.5780 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14636 | 51 | D/E | 130 | rs1469705451 | 0.7273 | None | gnomAD-2.1.1 | 1.61E-05 | |
14636 | 51 | D/E | 130 | rs1469705451 | 0.7273 | None | gnomAD-4.0.0 | 6.36916E-06 | |
14636 | 51 | D/H | 130 | None | 0.7273 | None | gnomAD-4.0.0 | 2.40064E-06 | |
14637 | 52 | G/S | 131 | None | 0.3749 | None | gnomAD-4.0.0 | 1.59232E-06 | |
14637 | 52 | G/V | 131 | None | 0.3749 | None | gnomAD-4.0.0 | 1.59231E-06 | |
14638 | 53 | K/R | 134 | rs878896650 | 0.3598 | None | gnomAD-4.0.0 | 4.10636E-06 | |
14640 | 55 | R/C | 136 | rs72650088 | 0.1176 | None | gnomAD-2.1.1 | 2.82E-05 | |
14640 | 55 | R/C | 136 | rs72650088 | 0.1176 | None | gnomAD-3.1.2 | 1.97E-05 | |
14640 | 55 | R/C | 136 | rs72650088 | 0.1176 |
DCM |
Literature | None | |
14640 | 55 | R/C | 136 | rs72650088 | 0.1176 | None | gnomAD-4.0.0 | 2.16969E-05 | |
14640 | 55 | R/H | 136 | rs752141195 | 0.1176 | None | gnomAD-2.1.1 | 1.21E-05 | |
14640 | 55 | R/H | 136 | rs752141195 | 0.1176 | None | gnomAD-3.1.2 | 6.58E-06 | |
14640 | 55 | R/H | 136 | rs752141195 | 0.1176 | None | gnomAD-4.0.0 | 8.67808E-06 | |
14640 | 55 | R/L | 136 | None | 0.1176 | None | gnomAD-4.0.0 | 6.84414E-07 | |
14640 | 55 | R/P | 136 | rs752141195 | 0.1176 | None | gnomAD-2.1.1 | 7.15E-06 | |
14640 | 55 | R/P | 136 | rs752141195 | 0.1176 | None | gnomAD-3.1.2 | 6.58E-06 | |
14640 | 55 | R/P | 136 | rs752141195 | 0.1176 | None | gnomAD-4.0.0 | 5.57917E-06 | |
14641 | 56 | M/I | 137 | rs2059746985 | 0.1930 | None | gnomAD-3.1.2 | 6.58E-06 | |
14641 | 56 | M/I | 137 | rs2059746985 | 0.1930 | None | gnomAD-4.0.0 | 6.57557E-06 | |
14641 | 56 | M/K | 137 | rs1481001987 | 0.1930 | None | gnomAD-2.1.1 | 4.03E-06 | |
14641 | 56 | M/K | 137 | rs1481001987 | 0.1930 | None | gnomAD-4.0.0 | 1.59229E-06 | |
14641 | 56 | M/R | 137 | None | 0.1930 | None | gnomAD-4.0.0 | 1.59229E-06 | |
14641 | 56 | M/V | 137 | None | 0.1930 | None | gnomAD-4.0.0 | 2.05318E-06 | |
14643 | 58 | I/N | 139 | None | 0.1784 | None | gnomAD-4.0.0 | 2.05317E-06 | |
14645 | 60 | K/N | 141 | None | 0.5104 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14647 | 62 | A/T | 144 | None | 0.1823 | None | gnomAD-4.0.0 | 1.20032E-06 | |
14647 | 62 | A/V | 144 | rs1647945461 | 0.1823 | None | gnomAD-3.1.2 | 6.58E-06 | |
14647 | 62 | A/V | 144 | rs1647945461 | 0.1823 | None | gnomAD-4.0.0 | 6.57765E-06 | |
14649 | 64 | K/N | 146 | None | 0.7120 | None | gnomAD-4.0.0 | 6.84385E-07 | |
14650 | 65 | S/L | 148 | None | 0.4941 | None | gnomAD-4.0.0 | 1.59224E-06 | |
14652 | 67 | I/S | 151 | rs767038885 | 0.3617 | None | gnomAD-2.1.1 | 4.03E-06 | |
14652 | 67 | I/S | 151 | rs767038885 | 0.3617 | None | gnomAD-4.0.0 | 2.73755E-06 | |
14652 | 67 | I/T | 151 | rs767038885 | 0.3617 | None | gnomAD-2.1.1 | 8.05E-06 | |
14652 | 67 | I/T | 151 | rs767038885 | 0.3617 | None | gnomAD-3.1.2 | 1.32E-05 | |
14652 | 67 | I/T | 151 | rs767038885 | 0.3617 | None | gnomAD-4.0.0 | 4.33924E-06 | |
14654 | 69 | Q/E | 153 | None | 0.4898 | None | gnomAD-4.0.0 | 6.84398E-07 | |
14654 | 69 | Q/K | 153 | rs1463883512 | 0.4898 | None | gnomAD-2.1.1 | 3.19E-05 | |
14654 | 69 | Q/K | 153 | rs1463883512 | 0.4898 | None | gnomAD-3.1.2 | 6.57E-06 | |
14654 | 69 | Q/K | 153 | rs1463883512 | 0.4898 | None | gnomAD-4.0.0 | 6.5741E-06 | |
14656 | 71 | T/I | 155 | rs1001069675 | 0.2059 | None | gnomAD-3.1.2 | 1.32E-05 | |
14656 | 71 | T/I | 155 | rs1001069675 | 0.2059 | None | gnomAD-4.0.0 | 4.33927E-06 | |
14656 | 71 | T/N | 155 | rs1001069675 | 0.2059 | None | gnomAD-3.1.2 | 6.58E-06 | |
14656 | 71 | T/N | 155 | rs1001069675 | 0.2059 | None | gnomAD-4.0.0 | 6.57635E-06 | |
14657 | 72 | C/G | 156 | rs772937665 | 0.0595 | None | gnomAD-2.1.1 | 8.06E-06 | |
14657 | 72 | C/G | 156 | rs772937665 | 0.0595 | None | gnomAD-4.0.0 | 1.57414E-05 | |
14657 | 72 | C/S | 156 | rs774245300 | 0.0595 | None | gnomAD-2.1.1 | 2.86E-05 | |
14657 | 72 | C/S | 156 | rs774245300 | 0.0595 | None | gnomAD-3.1.2 | 5.92E-05 | |
14657 | 72 | C/S | 156 | rs774245300 | 0.0595 | None | gnomAD-4.0.0 | 8.6783E-06 | |
14657 | 72 | C/Y | 156 | rs774245300 | 0.0595 | None | gnomAD-4.0.0 | 6.84402E-07 | |
14658 | 73 | D/G | 157 | rs574681280 | 0.2474 | None | gnomAD-2.1.1 | 2.01E-05 | |
14658 | 73 | D/G | 157 | rs574681280 | 0.2474 | None | gnomAD-4.0.0 | 4.79094E-06 | |
14658 | 73 | D/N | 157 | rs1397760858 | 0.2474 | None | gnomAD-3.1.2 | 6.57E-06 | |
14658 | 73 | D/N | 157 | rs1397760858 | 0.2474 | None | gnomAD-4.0.0 | 6.57479E-06 | |
14658 | 73 | D/V | 157 | None | 0.2474 | None | gnomAD-4.0.0 | 2.73768E-06 | |
14659 | 74 | C/F | 158 | None | 0.1859 | None | gnomAD-4.0.0 | 6.84423E-07 | |
14659 | 74 | C/G | 158 | rs1460790358 | 0.1859 | None | gnomAD-2.1.1 | 4.03E-06 | |
14659 | 74 | C/G | 158 | rs1460790358 | 0.1859 | None | gnomAD-4.0.0 | 6.00161E-06 | |
14660 | 75 | G/R | 159 | rs762795774 | 0.4957 | None | gnomAD-2.1.1 | 4.03E-06 | |
14660 | 75 | G/R | 159 | rs762795774 | 0.4957 | None | gnomAD-4.0.0 | 1.36885E-06 | |
14661 | 76 | T/I | 161 | rs370339661 | 0.6522 | None | gnomAD-2.1.1 | 4.03E-06 | |
14661 | 76 | T/I | 161 | rs370339661 | 0.6522 | None | gnomAD-3.1.2 | 6.58E-06 | |
14661 | 76 | T/I | 161 | rs370339661 | 0.6522 | None | gnomAD-4.0.0 | 6.57626E-06 | |
14662 | 77 | D/A | 162 | rs796538475 | 0.2312 | None | gnomAD-2.1.1 | 3.19E-05 | |
14662 | 77 | D/A | 162 | rs796538475 | 0.2312 | None | gnomAD-3.1.2 | 1.31E-05 | |
14662 | 77 | D/A | 162 | rs796538475 | 0.2312 | None | gnomAD-4.0.0 | 8.67852E-06 | |
14662 | 77 | D/E | 162 | rs201390600 | 0.2312 | None | gnomAD-2.1.1 | 8.23E-05 | |
14662 | 77 | D/E | 162 | rs201390600 | 0.2312 | None | gnomAD-3.1.2 | 2.63E-05 | |
14662 | 77 | D/E | 162 | rs201390600 | 0.2312 | None | 1000 genomes | 1.99681E-04 | |
14662 | 77 | D/E | 162 | rs201390600 | 0.2312 | None | gnomAD-4.0.0 | 4.40109E-05 | |
14662 | 77 | D/H | 162 | rs876658059 | 0.2312 | None | gnomAD-4.0.0 | 1.59252E-06 | |
14663 | 78 | K/E | 163 | rs1271800091 | 0.4634 | None | gnomAD-3.1.2 | 6.57E-06 | |
14663 | 78 | K/E | 163 | rs1271800091 | 0.4634 | None | gnomAD-4.0.0 | 6.57358E-06 | |
14663 | 78 | K/N | 163 | rs781378924 | 0.4634 | None | gnomAD-2.1.1 | 1.21E-05 | |
14663 | 78 | K/N | 163 | rs781378924 | 0.4634 | None | gnomAD-4.0.0 | 1.59255E-05 | |
14663 | 78 | K/Q | 163 | rs1271800091 | 0.4634 | None | gnomAD-4.0.0 | 1.30044E-05 | |
14664 | 79 | T/S | 169 | rs768825478 | 0.0945 | None | gnomAD-2.1.1 | 4.65E-05 | |
14664 | 79 | T/S | 169 | rs768825478 | 0.0945 | None | gnomAD-3.1.2 | 6.58E-06 | |
14664 | 79 | T/S | 169 | rs768825478 | 0.0945 | None | gnomAD-4.0.0 | 1.79493E-05 | |
14665 | 80 | S/A | 171 | None | 0.3187 | None | gnomAD-4.0.0 | 2.73805E-06 | |
14666 | 81 | G/R | 172 | rs756959571 | 0.1260 | None | gnomAD-2.1.1 | 4.03E-06 | |
14666 | 81 | G/R | 172 | rs756959571 | 0.1260 | None | gnomAD-4.0.0 | 4.77867E-06 |