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P | V | I | K | R | K | I | E | P | L | E | V | A | L | G | H | L | A | K | F | T | C | E | I | Q | S | A | P | N | V | R | F | Q | W | F | K | A | G | R | E | I | Y | E | S | D | K | C | S | I | R | S | S | K | Y | I | S | S | L | E | I | L | R | T | Q | V | V | D | C | G | E | Y | T | C | K | A | S | N | E | Y | G | S | V | S | C | T | A | T | L | T | V | T | E | A | Y | P | 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 | I |
P | V | I | K | R | K | I | E | P | L | E | V | A | L | G | H | L | A | K | F | T | C | E | I | Q | S | A | P | N | V | R | F | Q | W | F | K | A | G | R | E | I | Y | E | S | D | K | C | S | I | R | S | S | K | Y | I | S | S | L | E | I | L | R | T | Q | V | V | D | C | G | E | Y | T | C | K | A | S | N | E | Y | G | S | V | S | C | T | A | T | L | T | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
4701 | 2 | V/A | 2 | rs763929922 | 0.5578 | None | gnomAD-2.1.1 | 4.05E-06 | |
4701 | 2 | V/A | 2 | rs763929922 | 0.5578 | None | gnomAD-4.0.0 | 1.59656E-06 | |
4701 | 2 | V/L | 2 | rs1306703274 | 0.5578 | None | gnomAD-2.1.1 | 3.18E-05 | |
4701 | 2 | V/L | 2 | rs1306703274 | 0.5578 | None | gnomAD-3.1.2 | 6.57E-06 | |
4701 | 2 | V/L | 2 | rs1306703274 | 0.5578 | None | gnomAD-4.0.0 | 2.57038E-06 | |
4702 | 3 | I/F | 3 | rs545434193 | 0.2103 | None | gnomAD-2.1.1 | 4.05E-06 | |
4702 | 3 | I/F | 3 | rs545434193 | 0.2103 | None | gnomAD-3.1.2 | 6.57E-06 | |
4702 | 3 | I/F | 3 | rs545434193 | 0.2103 | None | 1000 genomes | 1.99681E-04 | |
4702 | 3 | I/F | 3 | rs545434193 | 0.2103 | None | gnomAD-4.0.0 | 6.56702E-06 | |
4702 | 3 | I/M | 3 | None | 0.2103 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4703 | 4 | K/Q | 4 | rs1479181903 | 0.5049 | None | gnomAD-2.1.1 | 4.04E-06 | |
4703 | 4 | K/Q | 4 | rs1479181903 | 0.5049 | None | gnomAD-4.0.0 | 1.59553E-06 | |
4704 | 5 | R/G | 5 | rs775443847 | 0.5223 | None | gnomAD-2.1.1 | 4.04E-06 | |
4704 | 5 | R/G | 5 | rs775443847 | 0.5223 | None | gnomAD-4.0.0 | 1.59525E-06 | |
4704 | 5 | R/K | 5 | None | 0.5223 | None | gnomAD-4.0.0 | 1.59526E-06 | |
4705 | 6 | K/Q | 7 | None | 0.7260 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4706 | 7 | I/M | 8 | rs267599072 | 0.1211 | None | gnomAD-4.0.0 | 4.10836E-06 | |
4707 | 8 | E/K | 9 | rs749584249 | 0.8147 | None | gnomAD-2.1.1 | 2.15E-05 | |
4707 | 8 | E/K | 9 | rs749584249 | 0.8147 | None | gnomAD-3.1.2 | 3.29E-05 | |
4707 | 8 | E/K | 9 | rs749584249 | 0.8147 | None | gnomAD-4.0.0 | 1.67438E-05 | |
4707 | 8 | E/Q | 9 | rs749584249 | 0.8147 | None | gnomAD-2.1.1 | 8.08E-06 | |
4707 | 8 | E/Q | 9 | rs749584249 | 0.8147 | None | gnomAD-4.0.0 | 1.36945E-06 | |
4708 | 9 | P/A | 11 | None | 0.5906 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4708 | 9 | P/L | 11 | rs778412304 | 0.5906 | None | gnomAD-2.1.1 | 8.07E-06 | |
4708 | 9 | P/L | 11 | rs778412304 | 0.5906 | None | gnomAD-4.0.0 | 5.47686E-06 | |
4708 | 9 | P/T | 11 | None | 0.5906 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4709 | 10 | L/P | 13 | rs756566095 | 0.2488 | None | gnomAD-2.1.1 | 4.03E-06 | |
4709 | 10 | L/P | 13 | rs756566095 | 0.2488 | None | gnomAD-4.0.0 | 1.59303E-06 | |
4711 | 12 | V/A | 16 | rs1217292413 | 0.1587 | None | gnomAD-2.1.1 | 4.03E-06 | |
4711 | 12 | V/A | 16 | rs1217292413 | 0.1587 | None | gnomAD-4.0.0 | 6.84448E-07 | |
4711 | 12 | V/E | 16 | None | 0.1587 | None | gnomAD-4.0.0 | 1.3689E-06 | |
4713 | 14 | L/P | 23 | None | 0.5480 | None | gnomAD-4.0.0 | 1.59221E-06 | |
4714 | 15 | G/D | 24 | rs750125429 | 0.2536 | None | gnomAD-2.1.1 | 8.23E-05 | |
4714 | 15 | G/D | 24 | rs750125429 | 0.2536 | None | gnomAD-3.1.2 | 3.29E-05 | |
4714 | 15 | G/D | 24 | rs750125429 | 0.2536 |
DCM |
Literature | None | |
4714 | 15 | G/D | 24 | rs750125429 | 0.2536 | None | gnomAD-4.0.0 | 2.35542E-05 | |
4714 | 15 | G/S | 24 | rs757944467 | 0.2536 | None | gnomAD-2.1.1 | 4.03E-06 | |
4714 | 15 | G/S | 24 | rs757944467 | 0.2536 | None | gnomAD-4.0.0 | 3.18439E-06 | |
4715 | 16 | H/Y | 25 | rs376855980 | 0.4453 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4716 | 17 | L/V | 26 | None | 0.4756 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4717 | 18 | A/D | 28 | None | 0.1234 | None | gnomAD-4.0.0 | 6.84348E-07 | |
4717 | 18 | A/V | 28 | None | 0.1234 | None | gnomAD-4.0.0 | 6.84348E-07 | |
4718 | 19 | K/E | 29 | rs757119133 | 0.3925 | None | gnomAD-2.1.1 | 2.15E-05 | |
4718 | 19 | K/E | 29 | rs757119133 | 0.3925 | None | gnomAD-3.1.2 | 2.63E-05 | |
4718 | 19 | K/E | 29 | rs757119133 | 0.3925 | None | gnomAD-4.0.0 | 5.14421E-05 | |
4718 | 19 | K/I | 29 | rs753558755 | 0.3925 | None | gnomAD-2.1.1 | 2.82E-05 | |
4718 | 19 | K/I | 29 | rs753558755 | 0.3925 | None | gnomAD-3.1.2 | 6.57E-06 | |
4718 | 19 | K/I | 29 | rs753558755 | 0.3925 | None | gnomAD-4.0.0 | 5.57814E-06 | |
4718 | 19 | K/R | 29 | rs753558755 | 0.3925 | None | gnomAD-4.0.0 | 1.36869E-06 | |
4720 | 21 | T/A | 31 | None | 0.2773 | None | gnomAD-4.0.0 | 1.59206E-06 | |
4720 | 21 | T/I | 31 | rs373130116 | 0.2773 | None | gnomAD-2.1.1 | 8.05E-06 | |
4720 | 21 | T/I | 31 | rs373130116 | 0.2773 | None | gnomAD-4.0.0 | 3.18402E-06 | |
4721 | 22 | C/S | 33 | rs760530704 | 0.1312 | None | gnomAD-2.1.1 | 4.03E-06 | |
4721 | 22 | C/S | 33 | rs760530704 | 0.1312 | None | gnomAD-3.1.2 | 6.57E-06 | |
4721 | 22 | C/S | 33 | rs760530704 | 0.1312 | None | gnomAD-4.0.0 | 2.73743E-06 | |
4722 | 23 | E/K | 34 | rs767604791 | 0.2083 | None | gnomAD-2.1.1 | 4.03E-06 | |
4722 | 23 | E/K | 34 | rs767604791 | 0.2083 | None | gnomAD-4.0.0 | 1.59206E-06 | |
4723 | 24 | I/T | 35 | None | 0.0966 | None | gnomAD-4.0.0 | 1.59196E-06 | |
4724 | 25 | Q/R | 38 | rs1553934896 | 0.4886 | None | gnomAD-4.0.0 | 1.36865E-06 | |
4725 | 26 | S/N | 40 | rs1179360335 | 0.5499 | None | gnomAD-2.1.1 | 4.03E-06 | |
4725 | 26 | S/N | 40 | rs1179360335 | 0.5499 | None | gnomAD-4.0.0 | 1.36867E-06 | |
4726 | 27 | A/V | 41 | rs1241571397 | 0.2661 | None | gnomAD-2.1.1 | 4.03E-06 | |
4726 | 27 | A/V | 41 | rs1241571397 | 0.2661 | None | gnomAD-4.0.0 | 1.59192E-06 | |
4727 | 28 | P/S | 42 | rs1212488962 | 0.4522 | None | gnomAD-2.1.1 | 4.03E-06 | |
4727 | 28 | P/S | 42 | rs1212488962 | 0.4522 | None | gnomAD-4.0.0 | 2.60045E-05 | |
4728 | 29 | N/T | 43 | None | 0.7251 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4729 | 30 | V/I | 44 | rs1279065978 | 0.2049 | None | gnomAD-2.1.1 | 4.03E-06 | |
4729 | 30 | V/I | 44 | rs1279065978 | 0.2049 | None | gnomAD-4.0.0 | 1.59192E-06 | |
4730 | 31 | R/L | 45 | None | 0.6103 | None | gnomAD-4.0.0 | 6.84332E-07 | |
4730 | 31 | R/Q | 45 | rs202017278 | 0.6103 | None | gnomAD-2.1.1 | 2.86E-05 | |
4730 | 31 | R/Q | 45 | rs202017278 | 0.6103 | None | gnomAD-3.1.2 | 3.94E-05 | |
4730 | 31 | R/Q | 45 | rs202017278 | 0.6103 | None | gnomAD-4.0.0 | 8.11942E-05 | |
4730 | 31 | R/W | 45 | rs749719834 | 0.6103 | None | gnomAD-2.1.1 | 1.61E-05 | |
4730 | 31 | R/W | 45 | rs749719834 | 0.6103 | None | gnomAD-3.1.2 | 1.97E-05 | |
4730 | 31 | R/W | 45 | rs749719834 | 0.6103 | None | gnomAD-4.0.0 | 8.67716E-06 | |
4733 | 34 | W/C | 48 | None | 0.1228 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4735 | 36 | K/E | 50 | None | 0.2137 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4737 | 38 | G/C | 52 | None | 0.4638 | None | gnomAD-4.0.0 | 1.59177E-06 | |
4738 | 39 | R/G | 55 | None | 0.8194 | None | gnomAD-4.0.0 | 1.59182E-06 | |
4738 | 39 | R/Q | 55 | rs553541436 | 0.8194 | None | gnomAD-2.1.1 | 2.5E-05 | |
4738 | 39 | R/Q | 55 | rs553541436 | 0.8194 | None | gnomAD-3.1.2 | 5.26E-05 | |
4738 | 39 | R/Q | 55 | rs553541436 | 0.8194 | None | 1000 genomes | 1.99681E-04 | |
4738 | 39 | R/Q | 55 | rs553541436 | 0.8194 | None | gnomAD-4.0.0 | 1.03497E-04 | |
4740 | 41 | I/V | 58 | rs1381364366 | 0.1784 | None | gnomAD-2.1.1 | 4.02E-06 | |
4740 | 41 | I/V | 58 | rs1381364366 | 0.1784 | None | gnomAD-4.0.0 | 1.59171E-06 | |
4742 | 43 | E/D | 70 | None | 0.4418 | None | gnomAD-4.0.0 | 1.5918E-06 | |
4742 | 43 | E/K | 70 | rs781746943 | 0.4418 | None | gnomAD-2.1.1 | 4.02E-06 | |
4743 | 44 | S/N | 73 | None | 0.2719 | None | gnomAD-4.0.0 | 1.5917E-06 | |
4743 | 44 | S/R | 73 | None | 0.2719 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4744 | 45 | D/E | 111 | rs55906845 | 0.7863 | None | gnomAD-2.1.1 | 2.28665E-04 | |
4744 | 45 | D/E | 111 | rs55906845 | 0.7863 | None | gnomAD-3.1.2 | 1.77456E-04 | |
4744 | 45 | D/E | 111 | rs55906845 | 0.7863 | None | 1000 genomes | 1.99681E-04 | |
4744 | 45 | D/E | 111 | rs55906845 | 0.7863 | None | gnomAD-4.0.0 | 2.34872E-04 | |
4744 | 45 | D/G | 111 | None | 0.7863 | None | gnomAD-4.0.0 | 4.78999E-06 | |
4744 | 45 | D/V | 111 | rs1241199669 | 0.7863 | None | gnomAD-3.1.2 | 6.57E-06 | |
4744 | 45 | D/V | 111 | rs1241199669 | 0.7863 | None | gnomAD-4.0.0 | 6.57142E-06 | |
4745 | 46 | K/M | 115 | None | 0.2805 | None | gnomAD-4.0.0 | 1.59166E-06 | |
4745 | 46 | K/N | 115 | rs756868442 | 0.2805 | None | gnomAD-4.0.0 | 6.8428E-07 | |
4745 | 46 | K/R | 115 | rs778762576 | 0.2805 | None | gnomAD-2.1.1 | 4.02E-06 | |
4745 | 46 | K/R | 115 | rs778762576 | 0.2805 | None | gnomAD-4.0.0 | 1.59166E-06 | |
4747 | 48 | S/C | 122 | rs1363033770 | 0.2269 | None | gnomAD-2.1.1 | 4.02E-06 | |
4747 | 48 | S/C | 122 | rs1363033770 | 0.2269 | None | gnomAD-4.0.0 | 1.59156E-06 | |
4748 | 49 | I/V | 123 | rs753460929 | 0.2054 | None | gnomAD-2.1.1 | 4.02E-06 | |
4748 | 49 | I/V | 123 | rs753460929 | 0.2054 | None | gnomAD-4.0.0 | 3.18313E-06 | |
4749 | 50 | R/G | 125 | None | 0.6103 | None | gnomAD-4.0.0 | 6.84273E-07 | |
4749 | 50 | R/L | 125 | None | 0.6103 | None | gnomAD-4.0.0 | 6.84263E-07 | |
4749 | 50 | R/Q | 125 | rs763823518 | 0.6103 | None | gnomAD-2.1.1 | 2.41E-05 | |
4749 | 50 | R/Q | 125 | rs763823518 | 0.6103 | None | gnomAD-3.1.2 | 6.57E-06 | |
4749 | 50 | R/Q | 125 | rs763823518 | 0.6103 | None | gnomAD-4.0.0 | 8.67664E-06 | |
4750 | 51 | S/P | 127 | rs1560880563 | 0.4640 | None | gnomAD-2.1.1 | 4.02E-06 | |
4750 | 51 | S/P | 127 | rs1560880563 | 0.4640 | None | gnomAD-4.0.0 | 1.36851E-06 | |
4750 | 51 | S/T | 127 | rs1560880563 | 0.4640 | None | gnomAD-4.0.0 | 6.84255E-07 | |
4752 | 53 | K/E | 131 | rs1383451111 | 0.7528 | None | gnomAD-2.1.1 | 4.02E-06 | |
4752 | 53 | K/E | 131 | rs1383451111 | 0.7528 | None | gnomAD-4.0.0 | 7.95755E-06 | |
4753 | 54 | Y/C | 134 | rs752678561 | 0.3416 | None | gnomAD-2.1.1 | 4.02E-06 | |
4753 | 54 | Y/C | 134 | rs752678561 | 0.3416 | None | gnomAD-3.1.2 | 6.57E-06 | |
4753 | 54 | Y/C | 134 | rs752678561 | 0.3416 | None | gnomAD-4.0.0 | 2.47889E-06 | |
4753 | 54 | Y/F | 134 | None | 0.3416 | None | gnomAD-4.0.0 | 1.36851E-06 | |
4754 | 55 | I/N | 135 | rs1012186680 | 0.3946 | None | gnomAD-4.0.0 | 6.84252E-07 | |
4754 | 55 | I/T | 135 | None | 0.3946 | None | gnomAD-4.0.0 | 6.84252E-07 | |
4755 | 56 | S/C | 136 | rs767410813 | 0.0849 | None | gnomAD-2.1.1 | 8.04E-06 | |
4755 | 56 | S/C | 136 | rs767410813 | 0.0849 | None | gnomAD-4.0.0 | 2.05274E-06 | |
4755 | 56 | S/F | 136 | None | 0.0849 | None | gnomAD-4.0.0 | 6.84245E-07 | |
4756 | 57 | S/G | 137 | None | 0.1484 | None | gnomAD-4.0.0 | 3.18293E-06 | |
4756 | 57 | S/N | 137 | None | 0.1484 | None | gnomAD-4.0.0 | 1.59145E-06 | |
4756 | 57 | S/T | 137 | None | 0.1484 | None | gnomAD-4.0.0 | 1.59145E-06 | |
4758 | 59 | E/K | 139 | rs928709551 | 0.2093 | None | gnomAD-2.1.1 | 3.18E-05 | |
4758 | 59 | E/K | 139 | rs928709551 | 0.2093 | None | gnomAD-3.1.2 | 6.57E-06 | |
4758 | 59 | E/K | 139 | rs928709551 | 0.2093 | None | gnomAD-4.0.0 | 6.57203E-06 | |
4759 | 60 | I/T | 140 | None | 0.1219 | None | gnomAD-4.0.0 | 1.59142E-06 | |
4760 | 61 | L/R | 141 | rs2081864609 | 0.4878 | None | gnomAD-3.1.2 | 6.57E-06 | |
4760 | 61 | L/R | 141 | rs2081864609 | 0.4878 | None | gnomAD-4.0.0 | 6.57151E-06 | |
4760 | 61 | L/V | 141 | rs2081864970 | 0.4878 | None | gnomAD-3.1.2 | 6.57E-06 | |
4760 | 61 | L/V | 141 | rs2081864970 | 0.4878 | None | gnomAD-4.0.0 | 6.57341E-06 | |
4762 | 63 | T/I | 144 | rs2081863914 | 0.1126 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4762 | 63 | T/P | 144 | rs1439059332 | 0.1126 | None | gnomAD-3.1.2 | 6.58E-06 | |
4762 | 63 | T/P | 144 | rs1439059332 | 0.1126 | None | gnomAD-4.0.0 | 1.85937E-06 | |
4763 | 64 | Q/K | 145 | rs1187967109 | 0.4256 | None | gnomAD-2.1.1 | 3.18E-05 | |
4763 | 64 | Q/L | 145 | rs1574049717 | 0.4256 | None | gnomAD-4.0.0 | 1.59135E-06 | |
4765 | 66 | V/A | 148 | rs1192234880 | 0.6098 | None | gnomAD-2.1.1 | 4.02E-06 | |
4765 | 66 | V/A | 148 | rs1192234880 | 0.6098 | None | gnomAD-4.0.0 | 5.4738E-06 | |
4765 | 66 | V/D | 148 | rs1192234880 | 0.6098 | None | gnomAD-4.0.0 | 1.36845E-06 | |
4766 | 67 | D/G | 149 | rs878898536 | 0.1550 | None | gnomAD-2.1.1 | 8.04E-06 | |
4766 | 67 | D/G | 149 | rs878898536 | 0.1550 | None | gnomAD-4.0.0 | 1.36846E-05 | |
4766 | 67 | D/N | 149 | rs981499527 | 0.1550 | None | gnomAD-2.1.1 | 1.61E-05 | |
4766 | 67 | D/N | 149 | rs981499527 | 0.1550 | None | gnomAD-4.0.0 | 3.42114E-06 | |
4767 | 68 | C/Y | 151 | rs1175326019 | 0.2567 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4768 | 69 | G/S | 152 | rs727503652 | 0.2822 | None | gnomAD-2.1.1 | 6.07E-05 | |
4768 | 69 | G/S | 152 | rs727503652 | 0.2822 | None | gnomAD-3.1.2 | 7.23E-05 | |
4768 | 69 | G/S | 152 | rs727503652 | 0.2822 | None | gnomAD-4.0.0 | 5.39142E-05 | |
4768 | 69 | G/V | 152 | rs2081859448 | 0.2822 | None | gnomAD-3.1.2 | 6.57E-06 | |
4768 | 69 | G/V | 152 | rs2081859448 | 0.2822 | None | gnomAD-4.0.0 | 6.57134E-06 | |
4769 | 70 | E/G | 153 | None | 0.6861 | None | gnomAD-4.0.0 | 1.59132E-06 | |
4769 | 70 | E/K | 153 | rs566108422 | 0.6861 | None | gnomAD-2.1.1 | 4.02E-05 | |
4769 | 70 | E/K | 153 | rs566108422 | 0.6861 | None | gnomAD-3.1.2 | 3.29E-05 | |
4769 | 70 | E/K | 153 | rs566108422 | 0.6861 | None | 1000 genomes | 1.99681E-04 | |
4769 | 70 | E/K | 153 | rs566108422 | 0.6861 | None | gnomAD-4.0.0 | 1.4252E-05 | |
4769 | 70 | E/V | 153 | rs763092484 | 0.6861 | None | gnomAD-2.1.1 | 1.21E-05 | |
4769 | 70 | E/V | 153 | rs763092484 | 0.6861 | None | gnomAD-3.1.2 | 1.97E-05 | |
4769 | 70 | E/V | 153 | rs763092484 | 0.6861 | None | gnomAD-4.0.0 | 7.68647E-06 | |
4770 | 71 | Y/C | 154 | rs371552518 | 0.1264 | None | gnomAD-2.1.1 | 1.03546E-04 | |
4770 | 71 | Y/C | 154 | rs371552518 | 0.1264 | None | gnomAD-3.1.2 | 9.2E-05 | |
4770 | 71 | Y/C | 154 | rs371552518 | 0.1264 | None | gnomAD-4.0.0 | 1.05344E-04 | |
4770 | 71 | Y/H | 154 | None | 0.1264 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4771 | 72 | T/A | 155 | None | 0.1927 | None | gnomAD-4.0.0 | 1.59131E-06 | |
4771 | 72 | T/I | 155 | rs762249414 | 0.1927 | None | gnomAD-2.1.1 | 8.04E-06 | |
4771 | 72 | T/I | 155 | rs762249414 | 0.1927 | None | gnomAD-4.0.0 | 3.18269E-06 | |
4773 | 74 | K/E | 157 | None | 0.2673 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4773 | 74 | K/R | 157 | None | 0.2673 | None | gnomAD-4.0.0 | 1.59133E-06 | |
4774 | 75 | A/P | 158 | None | 0.1076 | None | gnomAD-4.0.0 | 2.05267E-06 | |
4774 | 75 | A/S | 158 | rs1404878972 | 0.1076 | None | gnomAD-2.1.1 | 8.04E-06 | |
4774 | 75 | A/S | 158 | rs1404878972 | 0.1076 | None | gnomAD-4.0.0 | 5.4738E-06 | |
4774 | 75 | A/T | 158 | rs1404878972 | 0.1076 | None | gnomAD-4.0.0 | 3.42112E-06 | |
4774 | 75 | A/V | 158 | rs879085292 | 0.1076 | None | gnomAD-4.0.0 | 4.10535E-06 | |
4776 | 77 | N/D | 161 | rs727505309 | 0.1558 | None | gnomAD-2.1.1 | 4.02E-06 | |
4776 | 77 | N/D | 161 | rs727505309 | 0.1558 | None | gnomAD-4.0.0 | 1.36847E-06 | |
4776 | 77 | N/K | 161 | rs952268172 | 0.1558 | None | gnomAD-3.1.2 | 6.57E-06 | |
4776 | 77 | N/K | 161 | rs952268172 | 0.1558 | None | gnomAD-4.0.0 | 6.5716E-06 | |
4776 | 77 | N/S | 161 | rs369669941 | 0.1558 | None | gnomAD-2.1.1 | 3.18E-05 | |
4776 | 77 | N/S | 161 | rs369669941 | 0.1558 | None | gnomAD-3.1.2 | 1.31E-05 | |
4776 | 77 | N/S | 161 | rs369669941 | 0.1558 | None | gnomAD-4.0.0 | 9.91508E-06 | |
4777 | 78 | E/A | 162 | rs747457945 | 0.4884 | None | gnomAD-2.1.1 | 1.21E-05 | |
4777 | 78 | E/A | 162 | rs747457945 | 0.4884 | None | gnomAD-3.1.2 | 1.97E-05 | |
4777 | 78 | E/A | 162 | rs747457945 | 0.4884 | None | gnomAD-4.0.0 | 2.35483E-05 | |
4777 | 78 | E/K | 162 | rs1405978578 | 0.4884 | None | gnomAD-2.1.1 | 4.02E-06 | |
4777 | 78 | E/K | 162 | rs1405978578 | 0.4884 | None | gnomAD-4.0.0 | 1.59146E-06 | |
4777 | 78 | E/V | 162 | None | 0.4884 | None | gnomAD-4.0.0 | 6.84233E-07 | |
4778 | 79 | Y/H | 163 | None | 0.7702 | None | gnomAD-4.0.0 | 1.59141E-06 | |
4779 | 80 | G/D | 164 | None | 0.3044 | None | gnomAD-4.0.0 | 1.59144E-06 | |
4780 | 81 | S/N | 165 | rs147879266 | 0.5487 | None | gnomAD-2.1.1 | 8.93E-05 | |
4780 | 81 | S/N | 165 | rs147879266 | 0.5487 | None | gnomAD-3.1.2 | 5.26E-05 | |
4780 | 81 | S/N | 165 | rs147879266 | 0.5487 | None | 1000 genomes | 1.99681E-04 | |
4780 | 81 | S/N | 165 | rs147879266 | 0.5487 |
DCM |
Literature | None | |
4780 | 81 | S/N | 165 | rs147879266 | 0.5487 | None | gnomAD-4.0.0 | 4.39978E-05 | |
4780 | 81 | S/R | 165 | rs1574048697 | 0.5487 | None | gnomAD-4.0.0 | 1.59164E-06 | |
4781 | 82 | V/I | 166 | rs2081852478 | 0.2703 | None | gnomAD-4.0.0 | 1.59172E-06 | |
4782 | 83 | S/G | 168 | None | 0.4546 | None | gnomAD-4.0.0 | 1.50542E-05 | |
4782 | 83 | S/N | 168 | rs281864908 | 0.4546 | None | gnomAD-4.0.0 | 6.843E-07 | |
4782 | 83 | S/T | 168 | rs281864908 | 0.4546 | None | gnomAD-2.1.1 | 4.03E-06 | |
4782 | 83 | S/T | 168 | rs281864908 | 0.4546 | None | gnomAD-4.0.0 | 6.843E-07 | |
4783 | 84 | C/S | 169 | rs748913179 | 0.1386 | None | gnomAD-2.1.1 | 4.03E-06 | |
4783 | 84 | C/S | 169 | rs748913179 | 0.1386 | None | gnomAD-4.0.0 | 1.59194E-06 | |
4784 | 85 | T/I | 171 | rs376517129 | 0.4044 | None | gnomAD-2.1.1 | 8.06E-06 | |
4784 | 85 | T/I | 171 | rs376517129 | 0.4044 | None | gnomAD-3.1.2 | 6.57E-06 | |
4784 | 85 | T/I | 171 | rs376517129 | 0.4044 | None | gnomAD-4.0.0 | 1.85942E-06 | |
4784 | 85 | T/P | 171 | rs1244858847 | 0.4044 | None | gnomAD-2.1.1 | 1.21E-05 | |
4784 | 85 | T/R | 171 | None | 0.4044 | None | gnomAD-4.0.0 | 6.84345E-07 | |
4785 | 86 | A/T | 172 | rs755901072 | 0.1040 | None | gnomAD-2.1.1 | 2.01E-05 | |
4785 | 86 | A/T | 172 | rs755901072 | 0.1040 | None | gnomAD-4.0.0 | 1.2319E-05 | |
4786 | 87 | T/I | 173 | None | 0.4338 | None | gnomAD-4.0.0 | 1.59275E-06 | |
4786 | 87 | T/R | 173 | rs752484250 | 0.4338 | None | gnomAD-2.1.1 | 8.06E-06 | |
4786 | 87 | T/R | 173 | rs752484250 | 0.4338 | None | gnomAD-4.0.0 | 4.77824E-06 | |
4788 | 89 | T/I | 175 | None | 0.4065 | None | gnomAD-4.0.0 | 1.20032E-06 |