10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | S | F | I | K | K | I | E | S | T | S | S | L | R | G | G | T | A | A | F | Q | A | T | L | K | G | S | L | P | I | T | V | T | W | L | K | D | S | D | E | I | T | E | D | D | N | I | R | M | T | F | E | N | N | V | A | S | L | Y | L | S | G | I | E | V | K | H | D | G | K | Y | V | C | Q | A | K | N | D | A | G | I | Q | R | C | S | A | L | L | S | V | K | E | P | A | T | I | T | E | E | A | V | S | I | D | V | T | Q | G | D | P | A | T | L | Q | V | K | F | S | G | T | K | E | I | T | A | K | W | F | K | D | G | Q | E | L | T | L | G | S | K | Y | K | I | S | V | T | D | T | V | S | I | L | K | I | I | S | T | E | K | K | D | S | G | E | Y | T | F | E | V | Q | N | D | V | G | R | S | S | C | K | A | R | I | N | V | L |
P | S | F | I | K | K | I | E | S | T | S | S | L | R | G | G | T | A | A | F | Q | A | T | L | K | G | S | L | P | I | T | V | T | W | L | K | D | S | D | E | I | T | E | D | D | N | I | R | M | T | F | E | N | N | V | A | S | L | Y | L | S | G | I | E | V | K | H | D | G | K | Y | V | C | Q | A | K | N | D | A | G | I | Q | R | C | S | A | L | L | S | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
5730 | 1 | P/A | 1 | None | 0.1964 | None | gnomAD-3.1.2 | 6.58E-06 | |
5730 | 1 | P/A | 1 | None | 0.1964 | None | gnomAD-4.0.0 | 6.57557E-06 | |
5730 | 1 | P/L | 1 | rs779187099 | 0.1964 | None | gnomAD-2.1.1 | 4.21E-06 | |
5730 | 1 | P/L | 1 | rs779187099 | 0.1964 | None | gnomAD-3.1.2 | 6.58E-06 | |
5730 | 1 | P/L | 1 | rs779187099 | 0.1964 | None | gnomAD-4.0.0 | 2.50317E-06 | |
5731 | 2 | S/P | 2 | rs1578170411 | 0.3037 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5733 | 4 | I/M | 4 | rs1161139503 | 0.5616 | None | gnomAD-2.1.1 | 4.13E-06 | |
5733 | 4 | I/M | 4 | rs1161139503 | 0.5616 | None | gnomAD-3.1.2 | 6.57E-06 | |
5733 | 4 | I/M | 4 | rs1161139503 | 0.5616 | None | gnomAD-4.0.0 | 4.3621E-06 | |
5733 | 4 | I/V | 4 | rs2080510876 | 0.5616 | None | gnomAD-4.0.0 | 3.22961E-06 | |
5734 | 5 | K/E | 5 | None | 0.6145 | None | gnomAD-4.0.0 | 1.61419E-06 | |
5736 | 7 | I/T | 8 | rs1473469854 | 0.1153 | None | gnomAD-2.1.1 | 7.26E-06 | |
5736 | 7 | I/T | 8 | rs1473469854 | 0.1153 | None | gnomAD-3.1.2 | 1.97E-05 | |
5736 | 7 | I/T | 8 | rs1473469854 | 0.1153 | None | gnomAD-4.0.0 | 7.46317E-06 | |
5737 | 8 | E/K | 9 | rs575592774 | 0.8210 | None | gnomAD-2.1.1 | 8.18E-06 | |
5737 | 8 | E/K | 9 | rs575592774 | 0.8210 | None | gnomAD-3.1.2 | 3.29E-05 | |
5737 | 8 | E/K | 9 | rs575592774 | 0.8210 | None | 1000 genomes | 1.99681E-04 | |
5737 | 8 | E/K | 9 | rs575592774 | 0.8210 | None | gnomAD-4.0.0 | 8.08404E-06 | |
5737 | 8 | E/Q | 9 | rs575592774 | 0.8210 | None | gnomAD-4.0.0 | 6.86854E-07 | |
5739 | 10 | T/I | 13 | rs751087281 | 0.3614 | None | gnomAD-3.1.2 | 6.58E-06 | |
5739 | 10 | T/I | 13 | rs751087281 | 0.3614 | None | gnomAD-4.0.0 | 6.57566E-06 | |
5739 | 10 | T/N | 13 | None | 0.3614 | None | gnomAD-2.1.1 | 4.06E-06 | |
5739 | 10 | T/S | 13 | rs751087281 | 0.3614 | None | gnomAD-4.0.0 | 3.1997E-06 | |
5740 | 11 | S/T | 14 | rs779492952 | 0.4605 | None | gnomAD-2.1.1 | 4.06E-06 | |
5740 | 11 | S/T | 14 | rs779492952 | 0.4605 | None | gnomAD-4.0.0 | 6.39799E-06 | |
5741 | 12 | S/C | 16 | rs794729614 | 0.1804 | None | gnomAD-4.0.0 | 2.05619E-06 | |
5742 | 13 | L/F | 18 | rs72648943 | 0.6536 | None | gnomAD-2.1.1 | 3.08724E-04 | |
5742 | 13 | L/F | 18 | rs72648943 | 0.6536 | None | gnomAD-3.1.2 | 3.484E-04 | |
5742 | 13 | L/F | 18 | rs72648943 | 0.6536 | None | gnomAD-4.0.0 | 5.06665E-04 | |
5742 | 13 | L/P | 18 | rs750058681 | 0.6536 | None | gnomAD-2.1.1 | 7.18E-06 | |
5742 | 13 | L/P | 18 | rs750058681 | 0.6536 | None | gnomAD-3.1.2 | 1.97E-05 | |
5742 | 13 | L/P | 18 | rs750058681 | 0.6536 | None | gnomAD-4.0.0 | 3.72076E-06 | |
5743 | 14 | R/L | 23 | rs753892271 | 0.6832 | None | gnomAD-2.1.1 | 4.05E-06 | |
5743 | 14 | R/L | 23 | rs753892271 | 0.6832 | None | gnomAD-4.0.0 | 6.84746E-07 | |
5743 | 14 | R/Q | 23 | rs753892271 | 0.6832 | None | gnomAD-2.1.1 | 3.23072E-04 | |
5743 | 14 | R/Q | 23 | rs753892271 | 0.6832 | None | gnomAD-3.1.2 | 3.29E-05 | |
5743 | 14 | R/Q | 23 | rs753892271 | 0.6832 | None | gnomAD-4.0.0 | 7.31789E-05 | |
5743 | 14 | R/W | 23 | rs377193479 | 0.6832 | None | gnomAD-2.1.1 | 4.45E-05 | |
5743 | 14 | R/W | 23 | rs377193479 | 0.6832 | None | gnomAD-3.1.2 | 1.31E-05 | |
5743 | 14 | R/W | 23 | rs377193479 | 0.6832 | None | gnomAD-4.0.0 | 3.03865E-05 | |
5744 | 15 | G/R | 24 | rs371788854 | 0.4285 | None | gnomAD-2.1.1 | 4.04E-06 | |
5744 | 15 | G/R | 24 | rs371788854 | 0.4285 | None | gnomAD-3.1.2 | 1.97E-05 | |
5744 | 15 | G/R | 24 | rs371788854 | 0.4285 | None | gnomAD-4.0.0 | 6.84654E-07 | |
5744 | 15 | G/V | 24 | rs760630120 | 0.4285 | None | gnomAD-2.1.1 | 4.04E-06 | |
5744 | 15 | G/V | 24 | rs760630120 | 0.4285 | None | gnomAD-4.0.0 | 1.59361E-06 | |
5746 | 17 | T/R | 26 | rs775732793 | 0.6592 | None | gnomAD-2.1.1 | 2.87E-05 | |
5746 | 17 | T/R | 26 | rs775732793 | 0.6592 | None | gnomAD-3.1.2 | 6.57E-05 | |
5746 | 17 | T/R | 26 | rs775732793 | 0.6592 | None | gnomAD-4.0.0 | 1.61184E-05 | |
5747 | 18 | A/T | 28 | None | 0.1906 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5748 | 19 | A/D | 29 | rs772161489 | 0.3328 | None | gnomAD-2.1.1 | 4.04E-06 | |
5748 | 19 | A/D | 29 | rs772161489 | 0.3328 | None | gnomAD-4.0.0 | 3.18514E-06 | |
5749 | 20 | F/C | 30 | None | 0.1150 | None | gnomAD-4.0.0 | 1.59236E-06 | |
5749 | 20 | F/L | 30 | rs562519092 | 0.1150 | None | gnomAD-3.1.2 | 6.57E-06 | |
5749 | 20 | F/L | 30 | rs562519092 | 0.1150 | None | 1000 genomes | 1.99681E-04 | |
5749 | 20 | F/L | 30 | rs562519092 | 0.1150 | None | gnomAD-4.0.0 | 6.56797E-06 | |
5750 | 21 | Q/P | 31 | None | 0.4850 | None | gnomAD-4.0.0 | 1.20033E-06 | |
5751 | 22 | A/T | 33 | rs759726984 | 0.0947 | None | gnomAD-2.1.1 | 8.07E-06 | |
5751 | 22 | A/T | 33 | rs759726984 | 0.0947 | None | gnomAD-4.0.0 | 6.84399E-06 | |
5752 | 23 | T/A | 34 | rs774619432 | 0.2446 | None | gnomAD-2.1.1 | 1.21E-05 | |
5752 | 23 | T/A | 34 | rs774619432 | 0.2446 | None | gnomAD-4.0.0 | 1.27373E-05 | |
5752 | 23 | T/I | 34 | None | 0.2446 | None | gnomAD-4.0.0 | 4.80129E-06 | |
5753 | 24 | L/Q | 35 | None | 0.1302 | None | gnomAD-4.0.0 | 6.84338E-07 | |
5753 | 24 | L/R | 35 | None | 0.1302 | None | gnomAD-4.0.0 | 6.84338E-07 | |
5754 | 25 | K/N | 38 | rs890346105 | 0.5706 | None | gnomAD-3.1.2 | 6.57E-06 | |
5754 | 25 | K/N | 38 | rs890346105 | 0.5706 | None | gnomAD-4.0.0 | 6.5672E-06 | |
5755 | 26 | G/C | 40 | rs771267628 | 0.4152 | None | gnomAD-2.1.1 | 4.03E-06 | |
5755 | 26 | G/C | 40 | rs771267628 | 0.4152 | None | gnomAD-4.0.0 | 5.47465E-06 | |
5755 | 26 | G/R | 40 | None | 0.4152 | None | gnomAD-4.0.0 | 4.79032E-06 | |
5756 | 27 | S/C | 41 | rs367634185 | 0.7186 | None | gnomAD-2.1.1 | 4.03E-06 | |
5756 | 27 | S/C | 41 | rs367634185 | 0.7186 | None | gnomAD-3.1.2 | 6.57E-06 | |
5756 | 27 | S/C | 41 | rs367634185 | 0.7186 | None | gnomAD-4.0.0 | 6.57263E-06 | |
5756 | 27 | S/F | 41 | rs367634185 | 0.7186 | None | gnomAD-4.0.0 | 1.59185E-06 | |
5756 | 27 | S/P | 41 | rs2080496775 | 0.7186 | None | gnomAD-3.1.2 | 6.57E-06 | |
5756 | 27 | S/P | 41 | rs2080496775 | 0.7186 | None | gnomAD-4.0.0 | 6.57333E-06 | |
5758 | 29 | P/A | 43 | rs778057891 | 0.7339 | None | gnomAD-3.1.2 | 6.57E-06 | |
5758 | 29 | P/A | 43 | rs778057891 | 0.7339 | None | gnomAD-4.0.0 | 1.23959E-06 | |
5758 | 29 | P/L | 43 | None | 0.7339 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5758 | 29 | P/T | 43 | None | 0.7339 | None | gnomAD-4.0.0 | 6.84308E-07 | |
5759 | 30 | I/V | 44 | rs1365586736 | 0.1366 | None | gnomAD-2.1.1 | 4.03E-06 | |
5759 | 30 | I/V | 44 | rs1365586736 | 0.1366 | None | gnomAD-4.0.0 | 2.73715E-06 | |
5760 | 31 | T/A | 45 | None | 0.5595 | None | gnomAD-4.0.0 | 1.59168E-06 | |
5760 | 31 | T/M | 45 | rs770310501 | 0.5595 | None | gnomAD-2.1.1 | 1.79E-05 | |
5760 | 31 | T/M | 45 | rs770310501 | 0.5595 | None | gnomAD-3.1.2 | 1.31E-05 | |
5760 | 31 | T/M | 45 | rs770310501 | 0.5595 | None | gnomAD-4.0.0 | 1.11561E-05 | |
5761 | 32 | V/A | 46 | None | 0.2378 | None | gnomAD-4.0.0 | 4.78995E-06 | |
5761 | 32 | V/L | 46 | None | 0.2378 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5763 | 34 | W/R | 48 | rs897659304 | 0.1395 | None | gnomAD-4.0.0 | 1.59156E-06 | |
5764 | 35 | L/Q | 49 | None | 0.1913 | None | gnomAD-4.0.0 | 1.59152E-06 | |
5766 | 37 | D/E | 51 | None | 0.4741 | None | gnomAD-4.0.0 | 6.84237E-07 | |
5766 | 37 | D/G | 51 | rs1477878584 | 0.4741 | None | gnomAD-2.1.1 | 4.02E-06 | |
5766 | 37 | D/G | 51 | rs1477878584 | 0.4741 | None | gnomAD-4.0.0 | 1.59145E-06 | |
5766 | 37 | D/N | 51 | None | 0.4741 | None | gnomAD-4.0.0 | 1.59148E-06 | |
5767 | 38 | S/G | 52 | rs1204382084 | 0.6965 | None | gnomAD-2.1.1 | 3.18E-05 | |
5767 | 38 | S/G | 52 | rs1204382084 | 0.6965 | None | gnomAD-3.1.2 | 6.57E-06 | |
5767 | 38 | S/G | 52 | rs1204382084 | 0.6965 | None | gnomAD-4.0.0 | 6.57099E-06 | |
5767 | 38 | S/N | 52 | rs200692495 | 0.6965 | None | gnomAD-2.1.1 | 3.99977E-04 | |
5767 | 38 | S/N | 52 | rs200692495 | 0.6965 | None | gnomAD-3.1.2 | 9.92481E-04 | |
5767 | 38 | S/N | 52 | rs200692495 | 0.6965 | None | 1000 genomes | 1.39776E-03 | |
5767 | 38 | S/N | 52 | rs200692495 | 0.6965 | None | gnomAD-4.0.0 | 1.67933E-04 | |
5768 | 39 | D/G | 55 | rs1251438106 | 0.6978 | None | gnomAD-2.1.1 | 7.14E-06 | |
5768 | 39 | D/G | 55 | rs1251438106 | 0.6978 | None | gnomAD-3.1.2 | 1.31E-05 | |
5768 | 39 | D/G | 55 | rs1251438106 | 0.6978 | None | gnomAD-4.0.0 | 9.91532E-06 | |
5768 | 39 | D/N | 55 | rs576904726 | 0.6978 | None | gnomAD-2.1.1 | 6.07E-05 | |
5768 | 39 | D/N | 55 | rs576904726 | 0.6978 | None | gnomAD-3.1.2 | 6.57E-05 | |
5768 | 39 | D/N | 55 | rs576904726 | 0.6978 | None | 1000 genomes | 1.99681E-04 | |
5768 | 39 | D/N | 55 | rs576904726 | 0.6978 | None | gnomAD-4.0.0 | 6.32078E-05 | |
5769 | 40 | E/A | 56 | rs756902467 | 0.6579 | None | gnomAD-2.1.1 | 4.02E-06 | |
5769 | 40 | E/A | 56 | rs756902467 | 0.6579 | None | gnomAD-4.0.0 | 6.8423E-07 | |
5769 | 40 | E/G | 56 | None | 0.6579 | None | gnomAD-4.0.0 | 6.8423E-07 | |
5769 | 40 | E/K | 56 | None | 0.6579 | None | gnomAD-4.0.0 | 1.36845E-06 | |
5771 | 42 | T/A | 59 | None | 0.7779 | None | gnomAD-4.0.0 | 1.59134E-06 | |
5771 | 42 | T/I | 59 | rs16866477 | 0.7779 | None | gnomAD-3.1.2 | 6.57E-06 | |
5771 | 42 | T/I | 59 | rs16866477 | 0.7779 | None | gnomAD-4.0.0 | 6.5741E-06 | |
5771 | 42 | T/S | 59 | rs16866477 | 0.7779 | None | gnomAD-2.1.1 | 1.93163E-03 | |
5771 | 42 | T/S | 59 | rs16866477 | 0.7779 | None | gnomAD-3.1.2 | 5.81808E-03 | |
5771 | 42 | T/S | 59 | rs16866477 | 0.7779 | None | 1000 genomes | 5.79073E-03 | |
5771 | 42 | T/S | 59 | rs16866477 | 0.7779 | None | gnomAD-4.0.0 | 1.12534E-03 | |
5772 | 43 | E/K | 70 | rs763931240 | 0.4609 | None | gnomAD-2.1.1 | 4.02E-06 | |
5772 | 43 | E/K | 70 | rs763931240 | 0.4609 | None | gnomAD-3.1.2 | 6.57E-06 | |
5772 | 43 | E/K | 70 | rs763931240 | 0.4609 | None | gnomAD-4.0.0 | 2.56244E-06 | |
5773 | 44 | D/E | 73 | rs760724229 | 0.3755 | None | gnomAD-2.1.1 | 4.02E-06 | |
5774 | 45 | D/G | 102 | None | 1.0844 | None | gnomAD-4.0.0 | 7.20193E-06 | |
5774 | 45 | D/N | 102 | rs752660722 | 1.0844 | None | gnomAD-2.1.1 | 2.5E-05 | |
5774 | 45 | D/N | 102 | rs752660722 | 1.0844 | None | gnomAD-3.1.2 | 1.31E-05 | |
5774 | 45 | D/N | 102 | rs752660722 | 1.0844 | None | gnomAD-4.0.0 | 2.66483E-05 | |
5775 | 46 | N/S | 115 | rs1347227022 | 0.4561 | None | gnomAD-2.1.1 | 3.18E-05 | |
5775 | 46 | N/S | 115 | rs1347227022 | 0.4561 | None | gnomAD-3.1.2 | 6.57E-06 | |
5775 | 46 | N/S | 115 | rs1347227022 | 0.4561 | None | gnomAD-4.0.0 | 5.1246E-06 | |
5775 | 46 | N/T | 115 | None | 0.4561 | None | gnomAD-4.0.0 | 4.77395E-06 | |
5776 | 47 | I/M | 121 | rs928844023 | 0.1943 | None | gnomAD-3.1.2 | 6.57E-06 | |
5776 | 47 | I/M | 121 | rs928844023 | 0.1943 | None | gnomAD-4.0.0 | 3.84352E-06 | |
5776 | 47 | I/T | 121 | None | 0.1943 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5776 | 47 | I/V | 121 | rs767553328 | 0.1943 | None | gnomAD-2.1.1 | 8.04E-06 | |
5776 | 47 | I/V | 121 | rs767553328 | 0.1943 | None | gnomAD-3.1.2 | 1.31E-05 | |
5776 | 47 | I/V | 121 | rs767553328 | 0.1943 | None | gnomAD-4.0.0 | 4.95763E-06 | |
5777 | 48 | R/G | 122 | None | 0.6821 | None | gnomAD-4.0.0 | 1.59129E-06 | |
5777 | 48 | R/K | 122 | rs759657332 | 0.6821 | None | gnomAD-3.1.2 | 6.58E-06 | |
5777 | 48 | R/K | 122 | rs759657332 | 0.6821 | None | gnomAD-4.0.0 | 2.4789E-06 | |
5777 | 48 | R/S | 122 | rs367942154 | 0.6821 | None | gnomAD-2.1.1 | 1.61E-05 | |
5777 | 48 | R/S | 122 | rs367942154 | 0.6821 | None | gnomAD-3.1.2 | 1.97E-05 | |
5777 | 48 | R/S | 122 | rs367942154 | 0.6821 | None | gnomAD-4.0.0 | 8.05629E-06 | |
5777 | 48 | R/T | 122 | rs759657332 | 0.6821 | None | gnomAD-2.1.1 | 4.02E-06 | |
5777 | 48 | R/T | 122 | rs759657332 | 0.6821 | None | gnomAD-4.0.0 | 6.84215E-07 | |
5778 | 49 | M/R | 123 | None | 0.1890 | None | gnomAD-4.0.0 | 1.59128E-06 | |
5778 | 49 | M/V | 123 | None | 0.1890 | None | gnomAD-4.0.0 | 3.60097E-06 | |
5779 | 50 | T/I | 125 | rs1407417738 | 0.3863 | None | gnomAD-2.1.1 | 4.02E-06 | |
5779 | 50 | T/I | 125 | rs1407417738 | 0.3863 | None | gnomAD-4.0.0 | 3.42109E-06 | |
5779 | 50 | T/P | 125 | rs771202533 | 0.3863 | None | gnomAD-2.1.1 | 4.02E-06 | |
5779 | 50 | T/P | 125 | rs771202533 | 0.3863 | None | gnomAD-4.0.0 | 3.18262E-06 | |
5780 | 51 | F/S | 127 | rs201482215 | 0.3056 | None | gnomAD-2.1.1 | 1.46323E-04 | |
5780 | 51 | F/S | 127 | rs201482215 | 0.3056 | None | gnomAD-3.1.2 | 2.63E-05 | |
5780 | 51 | F/S | 127 | rs201482215 | 0.3056 | None | gnomAD-4.0.0 | 5.82521E-05 | |
5781 | 52 | E/G | 130 | rs1414405507 | 0.7518 | None | gnomAD-2.1.1 | 4.02E-06 | |
5781 | 52 | E/K | 130 | rs1400453149 | 0.7518 | None | gnomAD-2.1.1 | 3.19E-05 | |
5781 | 52 | E/K | 130 | rs1400453149 | 0.7518 | None | gnomAD-3.1.2 | 6.57E-06 | |
5781 | 52 | E/K | 130 | rs1400453149 | 0.7518 | None | gnomAD-4.0.0 | 6.5741E-06 | |
5781 | 52 | E/Q | 130 | None | 0.7518 | None | gnomAD-4.0.0 | 1.59125E-06 | |
5782 | 53 | N/K | 131 | rs535281449 | 0.9518 | None | gnomAD-2.1.1 | 4.02E-06 | |
5782 | 53 | N/S | 131 | rs1423767140 | 0.9518 | None | gnomAD-2.1.1 | 4.02E-06 | |
5782 | 53 | N/S | 131 | rs1423767140 | 0.9518 | None | gnomAD-4.0.0 | 1.59123E-06 | |
5783 | 54 | N/I | 134 | None | 0.4500 | None | gnomAD-4.0.0 | 6.84202E-07 | |
5783 | 54 | N/S | 134 | None | 0.4500 | None | gnomAD-4.0.0 | 2.05261E-06 | |
5784 | 55 | V/M | 135 | rs2080478470 | 0.2716 | None | gnomAD-3.1.2 | 6.57E-06 | |
5784 | 55 | V/M | 135 | rs2080478470 | 0.2716 | None | gnomAD-4.0.0 | 6.57324E-06 | |
5785 | 56 | A/D | 136 | rs1193275554 | 0.0907 | None | gnomAD-2.1.1 | 4.02E-06 | |
5785 | 56 | A/D | 136 | rs1193275554 | 0.0907 | None | gnomAD-4.0.0 | 1.59124E-06 | |
5785 | 56 | A/V | 136 | None | 0.0907 | None | gnomAD-4.0.0 | 1.59124E-06 | |
5786 | 57 | S/G | 137 | rs745386654 | 0.1183 | None | gnomAD-2.1.1 | 4.02E-06 | |
5786 | 57 | S/G | 137 | rs745386654 | 0.1183 | None | gnomAD-4.0.0 | 6.84203E-07 | |
5786 | 57 | S/I | 137 | rs1553924253 | 0.1183 | None | gnomAD-4.0.0 | 3.42102E-06 | |
5786 | 57 | S/R | 137 | rs745386654 | 0.1183 | None | gnomAD-2.1.1 | 4.02E-06 | |
5786 | 57 | S/R | 137 | rs745386654 | 0.1183 | None | gnomAD-3.1.2 | 1.97E-05 | |
5786 | 57 | S/R | 137 | rs745386654 | 0.1183 | None | gnomAD-4.0.0 | 2.47875E-06 | |
5787 | 58 | L/S | 138 | rs752558864 | 0.0665 | None | gnomAD-2.1.1 | 1.07E-05 | |
5787 | 58 | L/S | 138 | rs752558864 | 0.0665 | None | gnomAD-3.1.2 | 6.57E-06 | |
5787 | 58 | L/S | 138 | rs752558864 | 0.0665 | None | gnomAD-4.0.0 | 2.41686E-05 | |
5788 | 59 | Y/H | 139 | rs1484048025 | 0.4285 | None | gnomAD-2.1.1 | 4.02E-06 | |
5788 | 59 | Y/H | 139 | rs1484048025 | 0.4285 | None | gnomAD-4.0.0 | 1.59121E-06 | |
5789 | 60 | L/F | 140 | None | 0.1476 | None | gnomAD-4.0.0 | 3.18241E-06 | |
5789 | 60 | L/V | 140 | rs778228033 | 0.1476 | None | gnomAD-2.1.1 | 4.02E-06 | |
5789 | 60 | L/V | 140 | rs778228033 | 0.1476 | None | gnomAD-4.0.0 | 1.59121E-06 | |
5790 | 61 | S/G | 141 | rs777761828 | 0.3799 | None | gnomAD-2.1.1 | 4.02E-06 | |
5790 | 61 | S/R | 141 | rs777761828 | 0.3799 | None | gnomAD-2.1.1 | 4.02E-06 | |
5790 | 61 | S/R | 141 | rs777761828 | 0.3799 | None | gnomAD-4.0.0 | 1.59117E-06 | |
5790 | 61 | S/T | 141 | None | 0.3799 | None | gnomAD-4.0.0 | 6.8419E-06 | |
5791 | 62 | G/S | 143 | rs1276489578 | 0.2961 | None | gnomAD-2.1.1 | 4.02E-06 | |
5791 | 62 | G/S | 143 | rs1276489578 | 0.2961 | None | gnomAD-4.0.0 | 1.36839E-06 | |
5792 | 63 | I/M | 144 | rs1041967765 | 0.0884 | None | gnomAD-2.1.1 | 8.04E-06 | |
5792 | 63 | I/M | 144 | rs1041967765 | 0.0884 | None | gnomAD-4.0.0 | 6.36478E-06 | |
5792 | 63 | I/T | 144 | rs1225094303 | 0.0884 | None | gnomAD-2.1.1 | 8.04E-06 | |
5792 | 63 | I/T | 144 | rs1225094303 | 0.0884 | None | gnomAD-3.1.2 | 6.57E-06 | |
5792 | 63 | I/T | 144 | rs1225094303 | 0.0884 | None | gnomAD-4.0.0 | 6.40544E-06 | |
5793 | 64 | E/K | 145 | rs1287275902 | 0.4427 | None | gnomAD-2.1.1 | 8.04E-06 | |
5793 | 64 | E/K | 145 | rs1287275902 | 0.4427 | None | gnomAD-4.0.0 | 1.09472E-05 | |
5794 | 65 | V/I | 146 | rs879167621 | 0.6684 | None | gnomAD-3.1.2 | 1.31E-05 | |
5794 | 65 | V/I | 146 | rs879167621 | 0.6684 | None | gnomAD-4.0.0 | 1.31458E-05 | |
5795 | 66 | K/E | 148 | rs1226206785 | 0.4253 | None | gnomAD-2.1.1 | 4.02E-06 | |
5795 | 66 | K/E | 148 | rs1226206785 | 0.4253 | None | gnomAD-4.0.0 | 3.18243E-06 | |
5796 | 67 | H/D | 149 | rs397517485 | 0.2237 | None | gnomAD-2.1.1 | 3.62E-05 | |
5796 | 67 | H/D | 149 | rs397517485 | 0.2237 | None | gnomAD-3.1.2 | 6.58E-06 | |
5796 | 67 | H/D | 149 | rs397517485 | 0.2237 | None | gnomAD-4.0.0 | 1.17749E-05 | |
5796 | 67 | H/Y | 149 | None | 0.2237 | None | gnomAD-4.0.0 | 6.84206E-07 | |
5797 | 68 | D/N | 151 | rs752644615 | 0.3418 | None | gnomAD-2.1.1 | 4.02E-06 | |
5797 | 68 | D/N | 151 | rs752644615 | 0.3418 | None | gnomAD-3.1.2 | 6.57E-06 | |
5797 | 68 | D/N | 151 | rs752644615 | 0.3418 | None | gnomAD-4.0.0 | 6.57263E-06 | |
5798 | 69 | G/A | 152 | rs754818408 | 0.1510 | None | gnomAD-2.1.1 | 4.02E-06 | |
5798 | 69 | G/A | 152 | rs754818408 | 0.1510 | None | gnomAD-3.1.2 | 6.57E-06 | |
5798 | 69 | G/A | 152 | rs754818408 | 0.1510 | None | gnomAD-4.0.0 | 2.56225E-06 | |
5798 | 69 | G/V | 152 | rs754818408 | 0.1510 | None | gnomAD-2.1.1 | 4.02E-06 | |
5798 | 69 | G/V | 152 | rs754818408 | 0.1510 | None | gnomAD-3.1.2 | 1.97E-05 | |
5798 | 69 | G/V | 152 | rs754818408 | 0.1510 | None | gnomAD-4.0.0 | 1.97218E-05 | |
5799 | 70 | K/R | 153 | rs572678771 | 0.4668 | None | gnomAD-2.1.1 | 4.02E-06 | |
5799 | 70 | K/R | 153 | rs572678771 | 0.4668 | None | gnomAD-3.1.2 | 6.57E-06 | |
5799 | 70 | K/R | 153 | rs572678771 | 0.4668 | None | 1000 genomes | 1.99681E-04 | |
5799 | 70 | K/R | 153 | rs572678771 | 0.4668 | None | gnomAD-4.0.0 | 2.47859E-06 | |
5799 | 70 | K/T | 153 | None | 0.4668 | None | gnomAD-4.0.0 | 6.84205E-07 | |
5800 | 71 | Y/C | 154 | rs1470486137 | 0.1135 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5800 | 71 | Y/H | 154 | None | 0.1135 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5800 | 71 | Y/N | 154 | None | 0.1135 | None | gnomAD-4.0.0 | 3.60097E-06 | |
5801 | 72 | V/I | 155 | rs556053351 | 0.1633 | None | gnomAD-3.1.2 | 6.57E-06 | |
5801 | 72 | V/I | 155 | rs556053351 | 0.1633 | None | 1000 genomes | 1.99681E-04 | |
5801 | 72 | V/I | 155 | rs556053351 | 0.1633 | None | gnomAD-4.0.0 | 6.56797E-06 | |
5803 | 74 | Q/H | 157 | rs914726368 | 0.2280 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5804 | 75 | A/S | 158 | rs773397477 | 0.0902 | None | gnomAD-2.1.1 | 4.02E-06 | |
5804 | 75 | A/S | 158 | rs773397477 | 0.0902 | None | gnomAD-4.0.0 | 1.59128E-06 | |
5804 | 75 | A/T | 158 | None | 0.0902 | None | gnomAD-4.0.0 | 1.59128E-06 | |
5806 | 77 | N/K | 161 | rs990308126 | 0.1637 | None | gnomAD-3.1.2 | 6.58E-06 | |
5806 | 77 | N/K | 161 | rs990308126 | 0.1637 | None | gnomAD-4.0.0 | 7.68732E-06 | |
5806 | 77 | N/S | 161 | None | 0.1637 | None | gnomAD-4.0.0 | 4.1054E-06 | |
5807 | 78 | D/G | 162 | rs1167663430 | 1.1482 | None | gnomAD-2.1.1 | 3.18E-05 | |
5807 | 78 | D/H | 162 | None | 1.1482 | None | gnomAD-4.0.0 | 1.59126E-06 | |
5807 | 78 | D/V | 162 | None | 1.1482 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5807 | 78 | D/Y | 162 | rs548385039 | 1.1482 | None | gnomAD-2.1.1 | 3.18E-05 | |
5807 | 78 | D/Y | 162 | rs548385039 | 1.1482 | None | gnomAD-3.1.2 | 2.63E-05 | |
5807 | 78 | D/Y | 162 | rs548385039 | 1.1482 | None | gnomAD-4.0.0 | 1.02486E-05 | |
5808 | 79 | A/S | 163 | None | 0.7216 | None | gnomAD-4.0.0 | 1.59127E-06 | |
5808 | 79 | A/V | 163 | rs1409068952 | 0.7216 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5809 | 80 | G/E | 164 | rs765643296 | 0.2735 | None | gnomAD-4.0.0 | 1.36843E-06 | |
5810 | 81 | I/M | 165 | rs762158553 | 0.4203 | None | gnomAD-4.0.0 | 7.95641E-06 | |
5811 | 82 | Q/K | 166 | None | 0.4257 | None | gnomAD-4.0.0 | 2.05267E-06 | |
5811 | 82 | Q/P | 166 | rs776791851 | 0.4257 | None | gnomAD-2.1.1 | 4.02E-06 | |
5811 | 82 | Q/P | 166 | rs776791851 | 0.4257 | None | gnomAD-3.1.2 | 6.57E-06 | |
5811 | 82 | Q/P | 166 | rs776791851 | 0.4257 | None | gnomAD-4.0.0 | 6.57082E-06 | |
5812 | 83 | R/T | 168 | rs1461562735 | 0.5202 | None | gnomAD-2.1.1 | 4.02E-06 | |
5812 | 83 | R/T | 168 | rs1461562735 | 0.5202 | None | gnomAD-4.0.0 | 2.73691E-06 | |
5813 | 84 | C/R | 169 | None | 0.0971 | None | gnomAD-4.0.0 | 6.8422E-07 | |
5813 | 84 | C/S | 169 | rs368692616 | 0.0971 | None | gnomAD-2.1.1 | 2.86E-05 | |
5813 | 84 | C/S | 169 | rs368692616 | 0.0971 | None | gnomAD-3.1.2 | 8.54E-05 | |
5813 | 84 | C/S | 169 | rs368692616 | 0.0971 | None | 1000 genomes | 1.99681E-04 | |
5813 | 84 | C/S | 169 | rs368692616 | 0.0971 | None | gnomAD-4.0.0 | 1.73503E-05 | |
5814 | 85 | S/F | 171 | rs1318339227 | 0.3929 | None | gnomAD-2.1.1 | 4.02E-06 | |
5814 | 85 | S/F | 171 | rs1318339227 | 0.3929 | None | gnomAD-4.0.0 | 1.59141E-06 | |
5814 | 85 | S/P | 171 | None | 0.3929 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5815 | 86 | A/G | 172 | None | 0.0938 | None | gnomAD-4.0.0 | 6.84241E-07 | |
5815 | 86 | A/T | 172 | rs987166734 | 0.0938 | None | gnomAD-4.0.0 | 1.59146E-06 | |
5817 | 88 | L/F | 174 | None | 0.1066 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5817 | 88 | L/I | 174 | None | 0.1066 | None | gnomAD-4.0.0 | 6.00161E-06 | |
5818 | 89 | S/L | 175 | rs749007462 | 0.2997 | None | gnomAD-2.1.1 | 1.21E-05 | |
5818 | 89 | S/L | 175 | rs749007462 | 0.2997 | None | gnomAD-3.1.2 | 6.57E-06 | |
5818 | 89 | S/L | 175 | rs749007462 | 0.2997 | None | gnomAD-4.0.0 | 6.19769E-06 | |
5819 | 90 | V/E | 177 | None | 0.1824 | None | gnomAD-4.0.0 | 1.20032E-06 | |
5819 | 90 | V/I | 177 | None | 0.1824 | None | gnomAD-4.0.0 | 1.59169E-06 |