10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | F | V | K | E | I | K | D | I | I | L | T | E | S | E | F | V | G | S | S | A | I | F | E | C | L | V | S | P | S | T | A | I | T | T | W | M | K | D | G | S | N | I | R | E | S | P | K | H | R | F | I | A | D | G | K | D | R | K | L | H | I | I | D | V | Q | L | S | D | A | G | E | Y | T | C | V | L | R | L | G | N | K | E | K | T | S | T | A | K | L | V | V | E | E | L | P | V | R | F | V | K | T | L | E | E | E | V | T | V | V | K | G | Q | P | L | Y | L | S | C | E | L | N | K | E | R | D | V | V | W | R | K | D | G | K | I | V | V | E | K | P | G | R | I | V | P | G | V | I | G | L | M | R | A | L | T | I | N | D | A | D | D | T | D | A | G | T | Y | T | V | T | V | E | N | A | N | N | L | E | C | S | S | C | V | K | V | V |
K | F | V | K | E | I | K | D | I | I | L | T | E | S | E | F | V | G | S | S | A | I | F | E | C | L | V | S | P | S | T | A | I | T | T | W | M | K | D | G | S | N | I | R | E | S | P | K | H | R | F | I | A | D | G | K | D | R | K | L | H | I | I | D | V | Q | L | S | D | A | G | E | Y | T | C | V | L | R | L | G | N | K | E | K | T | S | T | A | K | L | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | V | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
13685 | 2 | F/S | 3 | None | 0.1388 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13688 | 5 | E/G | 7 | rs2060476554 | 0.4270 | None | gnomAD-4.0.0 | 1.59222E-06 | |
13688 | 5 | E/K | 7 | None | 0.4270 | None | gnomAD-4.0.0 | 6.84396E-07 | |
13689 | 6 | I/F | 8 | rs1316196026 | 0.1242 | None | gnomAD-2.1.1 | 4.03E-06 | |
13689 | 6 | I/F | 8 | rs1316196026 | 0.1242 | None | gnomAD-4.0.0 | 1.16346E-05 | |
13690 | 7 | K/R | 9 | None | 0.7982 | None | gnomAD-4.0.0 | 1.36878E-06 | |
13691 | 8 | D/G | 11 | None | 0.5153 | None | gnomAD-4.0.0 | 1.59225E-06 | |
13692 | 9 | I/T | 13 | None | 0.1507 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13693 | 10 | I/S | 14 | None | 0.6317 | None | gnomAD-4.0.0 | 1.59222E-06 | |
13693 | 10 | I/V | 14 | None | 0.6317 | None | gnomAD-4.0.0 | 6.36894E-06 | |
13694 | 11 | L/F | 16 | None | 0.2251 | None | gnomAD-4.0.0 | 1.59223E-06 | |
13694 | 11 | L/S | 16 | None | 0.2251 | None | gnomAD-4.0.0 | 1.5922E-06 | |
13695 | 12 | T/R | 18 | None | 0.3240 | None | gnomAD-4.0.0 | 1.59221E-06 | |
13698 | 15 | E/Q | 21 | rs1216328116 | 0.4093 | None | gnomAD-2.1.1 | 4.03E-06 | |
13698 | 15 | E/Q | 21 | rs1216328116 | 0.4093 | None | gnomAD-4.0.0 | 1.59219E-06 | |
13699 | 16 | F/I | 22 | None | 0.1446 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13699 | 16 | F/L | 22 | None | 0.1446 | None | gnomAD-4.0.0 | 1.36874E-06 | |
13699 | 16 | F/S | 22 | None | 0.1446 | None | gnomAD-4.0.0 | 1.36872E-06 | |
13700 | 17 | V/A | 23 | rs1438452689 | 0.7323 | None | gnomAD-2.1.1 | 8.05E-06 | |
13700 | 17 | V/A | 23 | rs1438452689 | 0.7323 | None | gnomAD-3.1.2 | 3.29E-05 | |
13700 | 17 | V/A | 23 | rs1438452689 | 0.7323 | None | gnomAD-4.0.0 | 7.43819E-06 | |
13700 | 17 | V/I | 23 | rs748716483 | 0.7323 | None | gnomAD-2.1.1 | 1.79E-05 | |
13700 | 17 | V/I | 23 | rs748716483 | 0.7323 | None | gnomAD-3.1.2 | 6.58E-06 | |
13700 | 17 | V/I | 23 | rs748716483 | 0.7323 | None | gnomAD-4.0.0 | 9.29791E-06 | |
13700 | 17 | V/L | 23 | None | 0.7323 | None | gnomAD-4.0.0 | 3.42182E-06 | |
13701 | 18 | G/A | 24 | None | 0.4968 | None | gnomAD-4.0.0 | 1.5921E-06 | |
13702 | 19 | S/P | 25 | rs72650078 | 0.2963 | None | gnomAD-3.1.2 | 6.58E-06 | |
13702 | 19 | S/P | 25 | rs72650078 | 0.2963 |
DCM |
Literature | None | |
13702 | 19 | S/P | 25 | rs72650078 | 0.2963 | None | gnomAD-4.0.0 | 6.40861E-06 | |
13704 | 21 | A/T | 28 | rs1259815299 | 0.1205 | None | gnomAD-2.1.1 | 3.19E-05 | |
13704 | 21 | A/T | 28 | rs1259815299 | 0.1205 | None | gnomAD-3.1.2 | 1.32E-05 | |
13704 | 21 | A/T | 28 | rs1259815299 | 0.1205 | None | gnomAD-4.0.0 | 3.71907E-06 | |
13705 | 22 | I/F | 29 | None | 0.2802 | None | gnomAD-4.0.0 | 6.84351E-07 | |
13705 | 22 | I/T | 29 | None | 0.2802 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13705 | 22 | I/V | 29 | rs769704113 | 0.2802 | None | gnomAD-2.1.1 | 1.21E-05 | |
13705 | 22 | I/V | 29 | rs769704113 | 0.2802 | None | gnomAD-4.0.0 | 4.79046E-06 | |
13706 | 23 | F/L | 30 | rs748084644 | 0.0804 | None | gnomAD-2.1.1 | 4.03E-06 | |
13706 | 23 | F/L | 30 | rs748084644 | 0.0804 | None | gnomAD-4.0.0 | 1.59207E-06 | |
13707 | 24 | E/G | 31 | None | 0.3818 | None | gnomAD-4.0.0 | 2.05305E-06 | |
13707 | 24 | E/Q | 31 | rs1173154586 | 0.3818 | None | gnomAD-2.1.1 | 4.03E-06 | |
13708 | 25 | C/W | 33 | rs794729424 | 0.0855 | None | gnomAD-4.0.0 | 1.3687E-06 | |
13708 | 25 | C/Y | 33 | None | 0.0855 | None | gnomAD-4.0.0 | 1.59205E-06 | |
13710 | 27 | V/I | 35 | rs1429685157 | 0.1014 | None | gnomAD-2.1.1 | 4.03E-06 | |
13710 | 27 | V/I | 35 | rs1429685157 | 0.1014 | None | gnomAD-4.0.0 | 3.18402E-06 | |
13712 | 29 | P/L | 40 | rs1425096489 | 0.4009 | None | gnomAD-2.1.1 | 4.03E-06 | |
13712 | 29 | P/L | 40 | rs1425096489 | 0.4009 | None | gnomAD-4.0.0 | 1.36869E-06 | |
13713 | 30 | S/C | 41 | None | 0.3756 | None | gnomAD-4.0.0 | 1.36869E-06 | |
13713 | 30 | S/P | 41 | None | 0.3756 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13715 | 32 | A/E | 43 | rs2060468649 | 0.1330 |
T1P |
Literature | None | |
13715 | 32 | A/T | 43 | rs1192068092 | 0.1330 | None | gnomAD-2.1.1 | 4.03E-06 | |
13715 | 32 | A/T | 43 | rs1192068092 | 0.1330 | None | gnomAD-4.0.0 | 6.36801E-06 | |
13716 | 33 | I/T | 45 | None | 0.7478 | None | gnomAD-4.0.0 | 3.18385E-06 | |
13716 | 33 | I/V | 45 | rs531807386 | 0.7478 | None | gnomAD-2.1.1 | 8.05E-06 | |
13716 | 33 | I/V | 45 | rs531807386 | 0.7478 | None | gnomAD-3.1.2 | 1.32E-05 | |
13716 | 33 | I/V | 45 | rs531807386 | 0.7478 | None | 1000 genomes | 1.99681E-04 | |
13716 | 33 | I/V | 45 | rs531807386 | 0.7478 | None | gnomAD-4.0.0 | 4.95829E-06 | |
13717 | 34 | T/I | 46 | rs754753030 | 0.2288 | None | gnomAD-2.1.1 | 4.03E-06 | |
13718 | 35 | T/A | 47 | rs562561380 | 0.3603 | None | gnomAD-3.1.2 | 6.58E-06 | |
13718 | 35 | T/A | 47 | rs562561380 | 0.3603 | None | 1000 genomes | 1.99681E-04 | |
13718 | 35 | T/A | 47 | rs562561380 | 0.3603 | None | gnomAD-4.0.0 | 6.57004E-06 | |
13718 | 35 | T/S | 47 | rs562561380 | 0.3603 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13720 | 37 | M/K | 49 | rs1490705626 | 0.2537 | None | gnomAD-3.1.2 | 6.58E-06 | |
13720 | 37 | M/K | 49 | rs1490705626 | 0.2537 | None | gnomAD-4.0.0 | 6.57583E-06 | |
13723 | 40 | G/D | 52 | None | 0.4732 | None | gnomAD-4.0.0 | 3.60097E-06 | |
13723 | 40 | G/S | 52 | rs188301588 | 0.4732 | None | gnomAD-2.1.1 | 3.22E-05 | |
13723 | 40 | G/S | 52 | rs188301588 | 0.4732 | None | gnomAD-3.1.2 | 1.32E-05 | |
13723 | 40 | G/S | 52 | rs188301588 | 0.4732 | None | 1000 genomes | 1.99681E-04 | |
13723 | 40 | G/S | 52 | rs188301588 | 0.4732 | None | gnomAD-4.0.0 | 1.85937E-05 | |
13724 | 41 | S/G | 55 | None | 0.4534 | None | gnomAD-4.0.0 | 6.84321E-07 | |
13726 | 43 | I/S | 58 | rs2060465786 | 0.2323 | None | gnomAD-3.1.2 | 6.58E-06 | |
13726 | 43 | I/S | 58 | rs2060465786 | 0.2323 | None | gnomAD-4.0.0 | 6.57583E-06 | |
13727 | 44 | R/C | 59 | rs397517563 | 0.8556 | None | gnomAD-2.1.1 | 4.03E-06 | |
13727 | 44 | R/C | 59 | rs397517563 | 0.8556 | None | gnomAD-3.1.2 | 1.32E-05 | |
13727 | 44 | R/C | 59 | rs397517563 | 0.8556 | None | gnomAD-4.0.0 | 5.12692E-06 | |
13727 | 44 | R/H | 59 | rs750520224 | 0.8556 | None | gnomAD-2.1.1 | 2.82E-05 | |
13727 | 44 | R/H | 59 | rs750520224 | 0.8556 | None | gnomAD-3.1.2 | 6.58E-06 | |
13727 | 44 | R/H | 59 | rs750520224 | 0.8556 | None | gnomAD-4.0.0 | 1.4876E-05 | |
13728 | 45 | E/D | 70 | rs2060464524 | 0.3008 | None | gnomAD-4.0.0 | 1.59193E-06 | |
13728 | 45 | E/G | 70 | None | 0.3008 | None | gnomAD-4.0.0 | 3.18382E-06 | |
13728 | 45 | E/K | 70 | rs765483020 | 0.3008 | None | gnomAD-2.1.1 | 8.05E-06 | |
13728 | 45 | E/K | 70 | rs765483020 | 0.3008 | None | gnomAD-4.0.0 | 2.73732E-06 | |
13729 | 46 | S/G | 73 | rs1372970593 | 0.2179 | None | gnomAD-2.1.1 | 4.03E-06 | |
13729 | 46 | S/G | 73 | rs1372970593 | 0.2179 | None | gnomAD-4.0.0 | 4.10599E-06 | |
13729 | 46 | S/R | 73 | rs1303644206 | 0.2179 | None | gnomAD-2.1.1 | 4.03E-06 | |
13731 | 48 | K/N | 115 | rs559968058 | 0.1845 | None | gnomAD-2.1.1 | 4.03E-06 | |
13731 | 48 | K/N | 115 | rs559968058 | 0.1845 | None | gnomAD-3.1.2 | 6.58E-06 | |
13731 | 48 | K/N | 115 | rs559968058 | 0.1845 | None | gnomAD-4.0.0 | 6.57644E-06 | |
13732 | 49 | H/N | 121 | None | 0.2724 | None | gnomAD-4.0.0 | 1.5919E-06 | |
13733 | 50 | R/K | 122 | rs1026532541 | 0.7239 | None | gnomAD-3.1.2 | 1.32E-05 | |
13733 | 50 | R/K | 122 | rs1026532541 | 0.7239 | None | gnomAD-4.0.0 | 1.31572E-05 | |
13734 | 51 | F/L | 123 | None | 0.4070 | None | gnomAD-4.0.0 | 1.5919E-06 | |
13734 | 51 | F/Y | 123 | rs764467205 | 0.4070 | None | gnomAD-2.1.1 | 4.03E-06 | |
13734 | 51 | F/Y | 123 | rs764467205 | 0.4070 | None | gnomAD-4.0.0 | 1.5919E-06 | |
13735 | 52 | I/S | 125 | None | 0.7101 | None | gnomAD-4.0.0 | 6.84328E-07 | |
13735 | 52 | I/T | 125 | rs2060462916 | 0.7101 | None | gnomAD-4.0.0 | 1.36866E-06 | |
13736 | 53 | A/S | 127 | rs540133480 | 0.4807 | None | gnomAD-2.1.1 | 6.79E-05 | |
13736 | 53 | A/S | 127 | rs540133480 | 0.4807 | None | gnomAD-3.1.2 | 7.89E-05 | |
13736 | 53 | A/S | 127 | rs540133480 | 0.4807 | None | 1000 genomes | 3.99361E-04 | |
13736 | 53 | A/S | 127 | rs540133480 | 0.4807 | None | gnomAD-4.0.0 | 4.77231E-05 | |
13736 | 53 | A/T | 127 | rs540133480 | 0.4807 | None | gnomAD-2.1.1 | 8.05E-06 | |
13736 | 53 | A/T | 127 | rs540133480 | 0.4807 | None | gnomAD-3.1.2 | 6.58E-06 | |
13736 | 53 | A/T | 127 | rs540133480 | 0.4807 | None | gnomAD-4.0.0 | 3.09913E-06 | |
13736 | 53 | A/V | 127 | rs574135671 | 0.4807 | None | gnomAD-2.1.1 | 6.08E-05 | |
13736 | 53 | A/V | 127 | rs574135671 | 0.4807 | None | gnomAD-3.1.2 | 7.89E-05 | |
13736 | 53 | A/V | 127 | rs574135671 | 0.4807 | None | 1000 genomes | 3.99361E-04 | |
13736 | 53 | A/V | 127 | rs574135671 | 0.4807 | None | gnomAD-4.0.0 | 7.1766E-05 | |
13738 | 55 | G/S | 131 | None | 0.3546 | None | gnomAD-4.0.0 | 1.59196E-06 | |
13739 | 56 | K/N | 134 | rs2060461606 | 0.5624 | None | gnomAD-3.1.2 | 6.57E-06 | |
13739 | 56 | K/N | 134 | rs2060461606 | 0.5624 | None | gnomAD-4.0.0 | 6.57488E-06 | |
13739 | 56 | K/R | 134 | None | 0.5624 | None | gnomAD-4.0.0 | 1.59193E-06 | |
13740 | 57 | D/A | 135 | rs1294256042 | 0.3895 | None | gnomAD-3.1.2 | 6.58E-06 | |
13740 | 57 | D/A | 135 | rs1294256042 | 0.3895 | None | gnomAD-4.0.0 | 6.5754E-06 | |
13740 | 57 | D/E | 135 | rs1559992349 | 0.3895 | None | gnomAD-2.1.1 | 4.03E-06 | |
13740 | 57 | D/E | 135 | rs1559992349 | 0.3895 | None | gnomAD-4.0.0 | 1.59196E-06 | |
13740 | 57 | D/N | 135 | None | 0.3895 | None | gnomAD-4.0.0 | 1.59196E-06 | |
13741 | 58 | R/G | 136 | None | 0.1198 | None | gnomAD-4.0.0 | 1.59195E-06 | |
13742 | 59 | K/E | 137 | None | 0.3678 | None | gnomAD-4.0.0 | 1.59195E-06 | |
13744 | 61 | H/N | 139 | None | 0.3982 | None | gnomAD-4.0.0 | 6.84368E-07 | |
13744 | 61 | H/R | 139 | None | 0.3982 | None | gnomAD-4.0.0 | 1.59196E-06 | |
13744 | 61 | H/Y | 139 | rs1178244629 | 0.3982 | None | gnomAD-2.1.1 | 4.03E-06 | |
13744 | 61 | H/Y | 139 | rs1178244629 | 0.3982 | None | gnomAD-4.0.0 | 2.0531E-06 | |
13745 | 62 | I/M | 140 | None | 0.0721 | None | gnomAD-4.0.0 | 6.84346E-07 | |
13745 | 62 | I/V | 140 | rs770466417 | 0.0721 | None | gnomAD-2.1.1 | 2.01E-05 | |
13745 | 62 | I/V | 140 | rs770466417 | 0.0721 | None | gnomAD-4.0.0 | 1.02651E-05 | |
13746 | 63 | I/M | 141 | rs1177814929 | 0.3881 | None | gnomAD-2.1.1 | 4.03E-06 | |
13746 | 63 | I/M | 141 | rs1177814929 | 0.3881 | None | gnomAD-4.0.0 | 1.59206E-06 | |
13746 | 63 | I/T | 141 | None | 0.3881 | None | gnomAD-4.0.0 | 2.7375E-06 | |
13746 | 63 | I/V | 141 | rs554128863 | 0.3881 | None | gnomAD-2.1.1 | 4.03E-06 | |
13746 | 63 | I/V | 141 | rs554128863 | 0.3881 | None | gnomAD-3.1.2 | 6.57E-06 | |
13746 | 63 | I/V | 141 | rs554128863 | 0.3881 | None | 1000 genomes | 1.99681E-04 | |
13746 | 63 | I/V | 141 | rs554128863 | 0.3881 | None | gnomAD-4.0.0 | 6.56978E-06 | |
13750 | 67 | L/F | 146 | None | 0.4799 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13751 | 68 | S/P | 148 | rs1327407922 | 0.5778 | None | gnomAD-4.0.0 | 3.60097E-06 | |
13752 | 69 | D/N | 149 | rs1349773180 | 0.1828 | None | gnomAD-2.1.1 | 4.03E-06 | |
13752 | 69 | D/N | 149 | rs1349773180 | 0.1828 | None | gnomAD-4.0.0 | 1.57411E-05 | |
13752 | 69 | D/V | 149 | None | 0.1828 | None | gnomAD-4.0.0 | 1.59228E-06 | |
13753 | 70 | A/G | 151 | rs1228071677 | 0.2424 | None | gnomAD-4.0.0 | 1.59229E-06 | |
13753 | 70 | A/S | 151 | None | 0.2424 | None | gnomAD-4.0.0 | 1.3688E-06 | |
13754 | 71 | G/D | 152 | None | 0.1828 | None | gnomAD-4.0.0 | 1.59236E-06 | |
13754 | 71 | G/R | 152 | None | 0.1828 | None | gnomAD-4.0.0 | 6.84415E-07 | |
13754 | 71 | G/S | 152 | None | 0.1828 | None | gnomAD-4.0.0 | 6.84415E-07 | |
13755 | 72 | E/A | 153 | None | 0.3959 | None | gnomAD-4.0.0 | 1.59234E-06 | |
13756 | 73 | Y/N | 154 | rs1314692821 | 0.1039 | None | gnomAD-2.1.1 | 4.03E-06 | |
13761 | 78 | R/C | 159 | rs376166350 | 0.4927 | None | gnomAD-4.0.0 | 2.05442E-06 | |
13761 | 78 | R/H | 159 | rs781139091 | 0.4927 | None | gnomAD-2.1.1 | 3.95E-05 | |
13761 | 78 | R/H | 159 | rs781139091 | 0.4927 | None | gnomAD-3.1.2 | 1.97E-05 | |
13761 | 78 | R/H | 159 | rs781139091 | 0.4927 | None | gnomAD-4.0.0 | 2.7913E-05 | |
13762 | 79 | L/V | 161 | None | 0.4952 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13763 | 80 | G/R | 162 | rs768683479 | 0.5008 | None | gnomAD-2.1.1 | 4.05E-06 | |
13763 | 80 | G/R | 162 | rs768683479 | 0.5008 | None | gnomAD-4.0.0 | 2.05568E-06 | |
13764 | 81 | N/K | 163 | rs1417225547 | 1.1858 | None | gnomAD-4.0.0 | 3.19518E-06 | |
13765 | 82 | K/E | 164 | rs1376605407 | 0.8312 | None | gnomAD-2.1.1 | 4.05E-06 | |
13765 | 82 | K/E | 164 | rs1376605407 | 0.8312 | None | gnomAD-4.0.0 | 2.05607E-05 | |
13766 | 83 | E/D | 165 | rs575272939 | 0.4960 | None | gnomAD-2.1.1 | 2.03E-05 | |
13766 | 83 | E/D | 165 | rs575272939 | 0.4960 | None | gnomAD-3.1.2 | 1.31E-05 | |
13766 | 83 | E/D | 165 | rs575272939 | 0.4960 | None | 1000 genomes | 1.99681E-04 | |
13766 | 83 | E/D | 165 | rs575272939 | 0.4960 | None | gnomAD-4.0.0 | 2.35862E-05 | |
13766 | 83 | E/K | 165 | None | 0.4960 | None | gnomAD-4.0.0 | 3.42741E-06 | |
13766 | 83 | E/Q | 165 | rs867849913 | 0.4960 | None | gnomAD-2.1.1 | 8.11E-06 | |
13766 | 83 | E/Q | 165 | rs867849913 | 0.4960 | None | gnomAD-4.0.0 | 2.05645E-06 | |
13767 | 84 | K/N | 166 | None | 0.3609 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13768 | 85 | T/I | 168 | None | 0.4631 | None | gnomAD-4.0.0 | 1.37152E-06 | |
13768 | 85 | T/P | 168 | None | 0.4631 | None | gnomAD-4.0.0 | 2.40064E-06 | |
13768 | 85 | T/S | 168 | None | 0.4631 | None | gnomAD-4.0.0 | 6.85761E-07 | |
13769 | 86 | S/F | 169 | rs1306932117 | 0.1113 | None | gnomAD-2.1.1 | 3.19E-05 | |
13769 | 86 | S/F | 169 | rs1306932117 | 0.1113 | None | gnomAD-4.0.0 | 1.20032E-06 | |
13770 | 87 | T/K | 171 | rs774214497 | 0.3929 | None | gnomAD-2.1.1 | 8.12E-06 | |
13770 | 87 | T/K | 171 | rs774214497 | 0.3929 | None | gnomAD-3.1.2 | 6.58E-06 | |
13770 | 87 | T/K | 171 | rs774214497 | 0.3929 | None | gnomAD-4.0.0 | 1.36731E-05 | |
13770 | 87 | T/M | 171 | rs774214497 | 0.3929 | None | gnomAD-2.1.1 | 1.44E-05 | |
13770 | 87 | T/M | 171 | rs774214497 | 0.3929 | None | gnomAD-3.1.2 | 3.95E-05 | |
13770 | 87 | T/M | 171 | rs774214497 | 0.3929 | None | gnomAD-4.0.0 | 2.54817E-05 | |
13774 | 91 | V/A | 175 | rs1423291544 | 0.2518 | None | gnomAD-4.0.0 | 6.89187E-07 | |
13774 | 91 | V/D | 175 | rs1423291544 | 0.2518 | None | gnomAD-4.0.0 | 6.89187E-07 | |
13774 | 91 | V/F | 175 | rs768582792 | 0.2518 | None | gnomAD-4.0.0 | 1.37868E-06 | |
13774 | 91 | V/L | 175 | rs768582792 | 0.2518 | None | gnomAD-4.0.0 | 2.06801E-06 | |
13775 | 92 | V/E | 176 | None | 0.7636 | None | gnomAD-4.0.0 | 1.61995E-06 |