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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P Y F T K E F K P I E V L K E Y D V M L L A E V A G T P P F E I T W F K D N T I L R S G R K Y K T F I Q D H L V S L Q I L K F V A A D A G E Y Q C R V T N E V G S S I C S A R V T L R E P 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
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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 -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5730 1 P/A 1 None 0.1415 None gnomAD-3.1.2 6.58E-06
5730 1 P/A 1 None 0.1415 None gnomAD-4.0.0 6.57557E-06
5730 1 P/L 1 rs779187099 0.1415 None gnomAD-2.1.1 4.21E-06
5730 1 P/L 1 rs779187099 0.1415 None gnomAD-3.1.2 6.58E-06
5730 1 P/L 1 rs779187099 0.1415 None gnomAD-4.0.0 2.50317E-06
5731 2 S/P 2 rs1578170411 0.3073 None gnomAD-4.0.0 1.20032E-06
5733 4 I/M 4 rs1161139503 0.5795 None gnomAD-2.1.1 4.13E-06
5733 4 I/M 4 rs1161139503 0.5795 None gnomAD-3.1.2 6.57E-06
5733 4 I/M 4 rs1161139503 0.5795 None gnomAD-4.0.0 4.3621E-06
5733 4 I/V 4 rs2080510876 0.5795 None gnomAD-4.0.0 3.22961E-06
5734 5 K/E 5 None 0.4461 None gnomAD-4.0.0 1.61419E-06
5736 7 I/T 8 rs1473469854 0.1107 None gnomAD-2.1.1 7.26E-06
5736 7 I/T 8 rs1473469854 0.1107 None gnomAD-3.1.2 1.97E-05
5736 7 I/T 8 rs1473469854 0.1107 None gnomAD-4.0.0 7.46317E-06
5737 8 E/K 9 rs575592774 0.6667 None gnomAD-2.1.1 8.18E-06
5737 8 E/K 9 rs575592774 0.6667 None gnomAD-3.1.2 3.29E-05
5737 8 E/K 9 rs575592774 0.6667 None 1000 genomes 1.99681E-04
5737 8 E/K 9 rs575592774 0.6667 None gnomAD-4.0.0 8.08404E-06
5737 8 E/Q 9 rs575592774 0.6667 None gnomAD-4.0.0 6.86854E-07
5739 10 T/I 13 rs751087281 0.3563 None gnomAD-3.1.2 6.58E-06
5739 10 T/I 13 rs751087281 0.3563 None gnomAD-4.0.0 6.57566E-06
5739 10 T/N 13 None 0.3563 None gnomAD-2.1.1 4.06E-06
5739 10 T/S 13 rs751087281 0.3563 None gnomAD-4.0.0 3.1997E-06
5740 11 S/T 14 rs779492952 0.4652 None gnomAD-2.1.1 4.06E-06
5740 11 S/T 14 rs779492952 0.4652 None gnomAD-4.0.0 6.39799E-06
5741 12 S/C 16 rs794729614 0.2031 None gnomAD-4.0.0 2.05619E-06
5742 13 L/F 18 rs72648943 0.8241 None gnomAD-2.1.1 3.08724E-04
5742 13 L/F 18 rs72648943 0.8241 None gnomAD-3.1.2 3.484E-04
5742 13 L/F 18 rs72648943 0.8241 None gnomAD-4.0.0 5.06665E-04
5742 13 L/P 18 rs750058681 0.8241 None gnomAD-2.1.1 7.18E-06
5742 13 L/P 18 rs750058681 0.8241 None gnomAD-3.1.2 1.97E-05
5742 13 L/P 18 rs750058681 0.8241 None gnomAD-4.0.0 3.72076E-06
5743 14 R/L 23 rs753892271 0.7316 None gnomAD-2.1.1 4.05E-06
5743 14 R/L 23 rs753892271 0.7316 None gnomAD-4.0.0 6.84746E-07
5743 14 R/Q 23 rs753892271 0.7316 None gnomAD-2.1.1 3.23072E-04
5743 14 R/Q 23 rs753892271 0.7316 None gnomAD-3.1.2 3.29E-05
5743 14 R/Q 23 rs753892271 0.7316 None gnomAD-4.0.0 7.31789E-05
5743 14 R/W 23 rs377193479 0.7316 None gnomAD-2.1.1 4.45E-05
5743 14 R/W 23 rs377193479 0.7316 None gnomAD-3.1.2 1.31E-05
5743 14 R/W 23 rs377193479 0.7316 None gnomAD-4.0.0 3.03865E-05
5744 15 G/R 24 rs371788854 0.4171 None gnomAD-2.1.1 4.04E-06
5744 15 G/R 24 rs371788854 0.4171 None gnomAD-3.1.2 1.97E-05
5744 15 G/R 24 rs371788854 0.4171 None gnomAD-4.0.0 6.84654E-07
5744 15 G/V 24 rs760630120 0.4171 None gnomAD-2.1.1 4.04E-06
5744 15 G/V 24 rs760630120 0.4171 None gnomAD-4.0.0 1.59361E-06
5746 17 T/R 26 rs775732793 0.6292 None gnomAD-2.1.1 2.87E-05
5746 17 T/R 26 rs775732793 0.6292 None gnomAD-3.1.2 6.57E-05
5746 17 T/R 26 rs775732793 0.6292 None gnomAD-4.0.0 1.61184E-05
5747 18 A/T 28 None 0.1870 None gnomAD-4.0.0 1.20032E-06
5748 19 A/D 29 rs772161489 0.3763 None gnomAD-2.1.1 4.04E-06
5748 19 A/D 29 rs772161489 0.3763 None gnomAD-4.0.0 3.18514E-06
5749 20 F/C 30 None 0.1183 None gnomAD-4.0.0 1.59236E-06
5749 20 F/L 30 rs562519092 0.1183 None gnomAD-3.1.2 6.57E-06
5749 20 F/L 30 rs562519092 0.1183 None 1000 genomes 1.99681E-04
5749 20 F/L 30 rs562519092 0.1183 None gnomAD-4.0.0 6.56797E-06
5750 21 Q/P 31 None 0.4679 None gnomAD-4.0.0 1.20033E-06
5751 22 A/T 33 rs759726984 0.0889 None gnomAD-2.1.1 8.07E-06
5751 22 A/T 33 rs759726984 0.0889 None gnomAD-4.0.0 6.84399E-06
5752 23 T/A 34 rs774619432 0.2618 None gnomAD-2.1.1 1.21E-05
5752 23 T/A 34 rs774619432 0.2618 None gnomAD-4.0.0 1.27373E-05
5752 23 T/I 34 None 0.2618 None gnomAD-4.0.0 4.80129E-06
5753 24 L/Q 35 None 0.1386 None gnomAD-4.0.0 6.84338E-07
5753 24 L/R 35 None 0.1386 None gnomAD-4.0.0 6.84338E-07
5754 25 K/N 38 rs890346105 0.5323 None gnomAD-3.1.2 6.57E-06
5754 25 K/N 38 rs890346105 0.5323 None gnomAD-4.0.0 6.5672E-06
5755 26 G/C 40 rs771267628 0.2523 None gnomAD-2.1.1 4.03E-06
5755 26 G/C 40 rs771267628 0.2523 None gnomAD-4.0.0 5.47465E-06
5755 26 G/R 40 None 0.2523 None gnomAD-4.0.0 4.79032E-06
5756 27 S/C 41 rs367634185 0.1556 None gnomAD-2.1.1 4.03E-06
5756 27 S/C 41 rs367634185 0.1556 None gnomAD-3.1.2 6.57E-06
5756 27 S/C 41 rs367634185 0.1556 None gnomAD-4.0.0 6.57263E-06
5756 27 S/F 41 rs367634185 0.1556 None gnomAD-4.0.0 1.59185E-06
5756 27 S/P 41 rs2080496775 0.1556 None gnomAD-3.1.2 6.57E-06
5756 27 S/P 41 rs2080496775 0.1556 None gnomAD-4.0.0 6.57333E-06
5758 29 P/A 43 rs778057891 0.6663 None gnomAD-3.1.2 6.57E-06
5758 29 P/A 43 rs778057891 0.6663 None gnomAD-4.0.0 1.23959E-06
5758 29 P/L 43 None 0.6663 None gnomAD-4.0.0 1.20032E-06
5758 29 P/T 43 None 0.6663 None gnomAD-4.0.0 6.84308E-07
5759 30 I/V 44 rs1365586736 0.1301 None gnomAD-2.1.1 4.03E-06
5759 30 I/V 44 rs1365586736 0.1301 None gnomAD-4.0.0 2.73715E-06
5760 31 T/A 45 None 0.5479 None gnomAD-4.0.0 1.59168E-06
5760 31 T/M 45 rs770310501 0.5479 None gnomAD-2.1.1 1.79E-05
5760 31 T/M 45 rs770310501 0.5479 None gnomAD-3.1.2 1.31E-05
5760 31 T/M 45 rs770310501 0.5479 None gnomAD-4.0.0 1.11561E-05
5761 32 V/A 46 None 0.2244 None gnomAD-4.0.0 4.78995E-06
5761 32 V/L 46 None 0.2244 None gnomAD-4.0.0 1.20032E-06
5763 34 W/R 48 rs897659304 0.1370 None gnomAD-4.0.0 1.59156E-06
5764 35 L/Q 49 None 0.1902 None gnomAD-4.0.0 1.59152E-06
5766 37 D/E 51 None 0.4872 None gnomAD-4.0.0 6.84237E-07
5766 37 D/G 51 rs1477878584 0.4872 None gnomAD-2.1.1 4.02E-06
5766 37 D/G 51 rs1477878584 0.4872 None gnomAD-4.0.0 1.59145E-06
5766 37 D/N 51 None 0.4872 None gnomAD-4.0.0 1.59148E-06
5767 38 S/G 52 rs1204382084 0.7058 None gnomAD-2.1.1 3.18E-05
5767 38 S/G 52 rs1204382084 0.7058 None gnomAD-3.1.2 6.57E-06
5767 38 S/G 52 rs1204382084 0.7058 None gnomAD-4.0.0 6.57099E-06
5767 38 S/N 52 rs200692495 0.7058 None gnomAD-2.1.1 3.99977E-04
5767 38 S/N 52 rs200692495 0.7058 None gnomAD-3.1.2 9.92481E-04
5767 38 S/N 52 rs200692495 0.7058 None 1000 genomes 1.39776E-03
5767 38 S/N 52 rs200692495 0.7058 None gnomAD-4.0.0 1.67933E-04
5768 39 D/G 55 rs1251438106 0.7741 None gnomAD-2.1.1 7.14E-06
5768 39 D/G 55 rs1251438106 0.7741 None gnomAD-3.1.2 1.31E-05
5768 39 D/G 55 rs1251438106 0.7741 None gnomAD-4.0.0 9.91532E-06
5768 39 D/N 55 rs576904726 0.7741 None gnomAD-2.1.1 6.07E-05
5768 39 D/N 55 rs576904726 0.7741 None gnomAD-3.1.2 6.57E-05
5768 39 D/N 55 rs576904726 0.7741 None 1000 genomes 1.99681E-04
5768 39 D/N 55 rs576904726 0.7741 None gnomAD-4.0.0 6.32078E-05
5769 40 E/A 56 rs756902467 0.6343 None gnomAD-2.1.1 4.02E-06
5769 40 E/A 56 rs756902467 0.6343 None gnomAD-4.0.0 6.8423E-07
5769 40 E/G 56 None 0.6343 None gnomAD-4.0.0 6.8423E-07
5769 40 E/K 56 None 0.6343 None gnomAD-4.0.0 1.36845E-06
5771 42 T/A 59 None 0.7998 None gnomAD-4.0.0 1.59134E-06
5771 42 T/I 59 rs16866477 0.7998 None gnomAD-3.1.2 6.57E-06
5771 42 T/I 59 rs16866477 0.7998 None gnomAD-4.0.0 6.5741E-06
5771 42 T/S 59 rs16866477 0.7998 None gnomAD-2.1.1 1.93163E-03
5771 42 T/S 59 rs16866477 0.7998 None gnomAD-3.1.2 5.81808E-03
5771 42 T/S 59 rs16866477 0.7998 None 1000 genomes 5.79073E-03
5771 42 T/S 59 rs16866477 0.7998 None gnomAD-4.0.0 1.12534E-03
5772 43 E/K 70 rs763931240 0.4662 None gnomAD-2.1.1 4.02E-06
5772 43 E/K 70 rs763931240 0.4662 None gnomAD-3.1.2 6.57E-06
5772 43 E/K 70 rs763931240 0.4662 None gnomAD-4.0.0 2.56244E-06
5773 44 D/E 73 rs760724229 0.3826 None gnomAD-2.1.1 4.02E-06
5774 45 D/G 102 None 1.0964 None gnomAD-4.0.0 7.20193E-06
5774 45 D/N 102 rs752660722 1.0964 None gnomAD-2.1.1 2.5E-05
5774 45 D/N 102 rs752660722 1.0964 None gnomAD-3.1.2 1.31E-05
5774 45 D/N 102 rs752660722 1.0964 None gnomAD-4.0.0 2.66483E-05
5775 46 N/S 115 rs1347227022 0.4477 None gnomAD-2.1.1 3.18E-05
5775 46 N/S 115 rs1347227022 0.4477 None gnomAD-3.1.2 6.57E-06
5775 46 N/S 115 rs1347227022 0.4477 None gnomAD-4.0.0 5.1246E-06
5775 46 N/T 115 None 0.4477 None gnomAD-4.0.0 4.77395E-06
5776 47 I/M 121 rs928844023 0.2046 None gnomAD-3.1.2 6.57E-06
5776 47 I/M 121 rs928844023 0.2046 None gnomAD-4.0.0 3.84352E-06
5776 47 I/T 121 None 0.2046 None gnomAD-4.0.0 1.36843E-06
5776 47 I/V 121 rs767553328 0.2046 None gnomAD-2.1.1 8.04E-06
5776 47 I/V 121 rs767553328 0.2046 None gnomAD-3.1.2 1.31E-05
5776 47 I/V 121 rs767553328 0.2046 None gnomAD-4.0.0 4.95763E-06
5777 48 R/G 122 None 0.6517 None gnomAD-4.0.0 1.59129E-06
5777 48 R/K 122 rs759657332 0.6517 None gnomAD-3.1.2 6.58E-06
5777 48 R/K 122 rs759657332 0.6517 None gnomAD-4.0.0 2.4789E-06
5777 48 R/S 122 rs367942154 0.6517 None gnomAD-2.1.1 1.61E-05
5777 48 R/S 122 rs367942154 0.6517 None gnomAD-3.1.2 1.97E-05
5777 48 R/S 122 rs367942154 0.6517 None gnomAD-4.0.0 8.05629E-06
5777 48 R/T 122 rs759657332 0.6517 None gnomAD-2.1.1 4.02E-06
5777 48 R/T 122 rs759657332 0.6517 None gnomAD-4.0.0 6.84215E-07
5778 49 M/R 123 None 0.2029 None gnomAD-4.0.0 1.59128E-06
5778 49 M/V 123 None 0.2029 None gnomAD-4.0.0 3.60097E-06
5779 50 T/I 125 rs1407417738 0.3288 None gnomAD-2.1.1 4.02E-06
5779 50 T/I 125 rs1407417738 0.3288 None gnomAD-4.0.0 3.42109E-06
5779 50 T/P 125 rs771202533 0.3288 None gnomAD-2.1.1 4.02E-06
5779 50 T/P 125 rs771202533 0.3288 None gnomAD-4.0.0 3.18262E-06
5780 51 F/S 127 rs201482215 0.2977 None gnomAD-2.1.1 1.46323E-04
5780 51 F/S 127 rs201482215 0.2977 None gnomAD-3.1.2 2.63E-05
5780 51 F/S 127 rs201482215 0.2977 None gnomAD-4.0.0 5.82521E-05
5781 52 E/G 130 rs1414405507 0.6609 None gnomAD-2.1.1 4.02E-06
5781 52 E/K 130 rs1400453149 0.6609 None gnomAD-2.1.1 3.19E-05
5781 52 E/K 130 rs1400453149 0.6609 None gnomAD-3.1.2 6.57E-06
5781 52 E/K 130 rs1400453149 0.6609 None gnomAD-4.0.0 6.5741E-06
5781 52 E/Q 130 None 0.6609 None gnomAD-4.0.0 1.59125E-06
5782 53 N/K 131 rs535281449 0.9254 None gnomAD-2.1.1 4.02E-06
5782 53 N/S 131 rs1423767140 0.9254 None gnomAD-2.1.1 4.02E-06
5782 53 N/S 131 rs1423767140 0.9254 None gnomAD-4.0.0 1.59123E-06
5783 54 N/I 134 None 0.4693 None gnomAD-4.0.0 6.84202E-07
5783 54 N/S 134 None 0.4693 None gnomAD-4.0.0 2.05261E-06
5784 55 V/M 135 rs2080478470 0.2616 None gnomAD-3.1.2 6.57E-06
5784 55 V/M 135 rs2080478470 0.2616 None gnomAD-4.0.0 6.57324E-06
5785 56 A/D 136 rs1193275554 0.0888 None gnomAD-2.1.1 4.02E-06
5785 56 A/D 136 rs1193275554 0.0888 None gnomAD-4.0.0 1.59124E-06
5785 56 A/V 136 None 0.0888 None gnomAD-4.0.0 1.59124E-06
5786 57 S/G 137 rs745386654 0.1075 None gnomAD-2.1.1 4.02E-06
5786 57 S/G 137 rs745386654 0.1075 None gnomAD-4.0.0 6.84203E-07
5786 57 S/I 137 rs1553924253 0.1075 None gnomAD-4.0.0 3.42102E-06
5786 57 S/R 137 rs745386654 0.1075 None gnomAD-2.1.1 4.02E-06
5786 57 S/R 137 rs745386654 0.1075 None gnomAD-3.1.2 1.97E-05
5786 57 S/R 137 rs745386654 0.1075 None gnomAD-4.0.0 2.47875E-06
5787 58 L/S 138 rs752558864 0.0700 None gnomAD-2.1.1 1.07E-05
5787 58 L/S 138 rs752558864 0.0700 None gnomAD-3.1.2 6.57E-06
5787 58 L/S 138 rs752558864 0.0700 None gnomAD-4.0.0 2.41686E-05
5788 59 Y/H 139 rs1484048025 0.4252 None gnomAD-2.1.1 4.02E-06
5788 59 Y/H 139 rs1484048025 0.4252 None gnomAD-4.0.0 1.59121E-06
5789 60 L/F 140 None 0.1366 None gnomAD-4.0.0 3.18241E-06
5789 60 L/V 140 rs778228033 0.1366 None gnomAD-2.1.1 4.02E-06
5789 60 L/V 140 rs778228033 0.1366 None gnomAD-4.0.0 1.59121E-06
5790 61 S/G 141 rs777761828 0.3514 None gnomAD-2.1.1 4.02E-06
5790 61 S/R 141 rs777761828 0.3514 None gnomAD-2.1.1 4.02E-06
5790 61 S/R 141 rs777761828 0.3514 None gnomAD-4.0.0 1.59117E-06
5790 61 S/T 141 None 0.3514 None gnomAD-4.0.0 6.8419E-06
5791 62 G/S 143 rs1276489578 0.3196 None gnomAD-2.1.1 4.02E-06
5791 62 G/S 143 rs1276489578 0.3196 None gnomAD-4.0.0 1.36839E-06
5792 63 I/M 144 rs1041967765 0.0851 None gnomAD-2.1.1 8.04E-06
5792 63 I/M 144 rs1041967765 0.0851 None gnomAD-4.0.0 6.36478E-06
5792 63 I/T 144 rs1225094303 0.0851 None gnomAD-2.1.1 8.04E-06
5792 63 I/T 144 rs1225094303 0.0851 None gnomAD-3.1.2 6.57E-06
5792 63 I/T 144 rs1225094303 0.0851 None gnomAD-4.0.0 6.40544E-06
5793 64 E/K 145 rs1287275902 0.3769 None gnomAD-2.1.1 8.04E-06
5793 64 E/K 145 rs1287275902 0.3769 None gnomAD-4.0.0 1.09472E-05
5794 65 V/I 146 rs879167621 0.7092 None gnomAD-3.1.2 1.31E-05
5794 65 V/I 146 rs879167621 0.7092 None gnomAD-4.0.0 1.31458E-05
5795 66 K/E 148 rs1226206785 0.3850 None gnomAD-2.1.1 4.02E-06
5795 66 K/E 148 rs1226206785 0.3850 None gnomAD-4.0.0 3.18243E-06
5796 67 H/D 149 rs397517485 0.2043 None gnomAD-2.1.1 3.62E-05
5796 67 H/D 149 rs397517485 0.2043 None gnomAD-3.1.2 6.58E-06
5796 67 H/D 149 rs397517485 0.2043 None gnomAD-4.0.0 1.17749E-05
5796 67 H/Y 149 None 0.2043 None gnomAD-4.0.0 6.84206E-07
5797 68 D/N 151 rs752644615 0.3580 None gnomAD-2.1.1 4.02E-06
5797 68 D/N 151 rs752644615 0.3580 None gnomAD-3.1.2 6.57E-06
5797 68 D/N 151 rs752644615 0.3580 None gnomAD-4.0.0 6.57263E-06
5798 69 G/A 152 rs754818408 0.1506 None gnomAD-2.1.1 4.02E-06
5798 69 G/A 152 rs754818408 0.1506 None gnomAD-3.1.2 6.57E-06
5798 69 G/A 152 rs754818408 0.1506 None gnomAD-4.0.0 2.56225E-06
5798 69 G/V 152 rs754818408 0.1506 None gnomAD-2.1.1 4.02E-06
5798 69 G/V 152 rs754818408 0.1506 None gnomAD-3.1.2 1.97E-05
5798 69 G/V 152 rs754818408 0.1506 None gnomAD-4.0.0 1.97218E-05
5799 70 K/R 153 rs572678771 0.4638 None gnomAD-2.1.1 4.02E-06
5799 70 K/R 153 rs572678771 0.4638 None gnomAD-3.1.2 6.57E-06
5799 70 K/R 153 rs572678771 0.4638 None 1000 genomes 1.99681E-04
5799 70 K/R 153 rs572678771 0.4638 None gnomAD-4.0.0 2.47859E-06
5799 70 K/T 153 None 0.4638 None gnomAD-4.0.0 6.84205E-07
5800 71 Y/C 154 rs1470486137 0.1124 None gnomAD-4.0.0 1.20032E-06
5800 71 Y/H 154 None 0.1124 None gnomAD-4.0.0 1.20032E-06
5800 71 Y/N 154 None 0.1124 None gnomAD-4.0.0 3.60097E-06
5801 72 V/I 155 rs556053351 0.1709 None gnomAD-3.1.2 6.57E-06
5801 72 V/I 155 rs556053351 0.1709 None 1000 genomes 1.99681E-04
5801 72 V/I 155 rs556053351 0.1709 None gnomAD-4.0.0 6.56797E-06
5803 74 Q/H 157 rs914726368 0.2479 None gnomAD-4.0.0 1.20032E-06
5804 75 A/S 158 rs773397477 0.1017 None gnomAD-2.1.1 4.02E-06
5804 75 A/S 158 rs773397477 0.1017 None gnomAD-4.0.0 1.59128E-06
5804 75 A/T 158 None 0.1017 None gnomAD-4.0.0 1.59128E-06
5806 77 N/K 161 rs990308126 0.1164 None gnomAD-3.1.2 6.58E-06
5806 77 N/K 161 rs990308126 0.1164 None gnomAD-4.0.0 7.68732E-06
5806 77 N/S 161 None 0.1164 None gnomAD-4.0.0 4.1054E-06
5807 78 D/G 162 rs1167663430 0.7185 None gnomAD-2.1.1 3.18E-05
5807 78 D/H 162 None 0.7185 None gnomAD-4.0.0 1.59126E-06
5807 78 D/V 162 None 0.7185 None gnomAD-4.0.0 1.20032E-06
5807 78 D/Y 162 rs548385039 0.7185 None gnomAD-2.1.1 3.18E-05
5807 78 D/Y 162 rs548385039 0.7185 None gnomAD-3.1.2 2.63E-05
5807 78 D/Y 162 rs548385039 0.7185 None gnomAD-4.0.0 1.02486E-05
5808 79 A/S 163 None 0.2971 None gnomAD-4.0.0 1.59127E-06
5808 79 A/V 163 rs1409068952 0.2971 None gnomAD-4.0.0 1.36843E-06
5809 80 G/E 164 rs765643296 0.2064 None gnomAD-4.0.0 1.36843E-06
5810 81 I/M 165 rs762158553 0.4718 None gnomAD-4.0.0 7.95641E-06
5811 82 Q/K 166 None 0.4360 None gnomAD-4.0.0 2.05267E-06
5811 82 Q/P 166 rs776791851 0.4360 None gnomAD-2.1.1 4.02E-06
5811 82 Q/P 166 rs776791851 0.4360 None gnomAD-3.1.2 6.57E-06
5811 82 Q/P 166 rs776791851 0.4360 None gnomAD-4.0.0 6.57082E-06
5812 83 R/T 168 rs1461562735 0.4779 None gnomAD-2.1.1 4.02E-06
5812 83 R/T 168 rs1461562735 0.4779 None gnomAD-4.0.0 2.73691E-06
5813 84 C/R 169 None 0.1017 None gnomAD-4.0.0 6.8422E-07
5813 84 C/S 169 rs368692616 0.1017 None gnomAD-2.1.1 2.86E-05
5813 84 C/S 169 rs368692616 0.1017 None gnomAD-3.1.2 8.54E-05
5813 84 C/S 169 rs368692616 0.1017 None 1000 genomes 1.99681E-04
5813 84 C/S 169 rs368692616 0.1017 None gnomAD-4.0.0 1.73503E-05
5814 85 S/F 171 rs1318339227 0.4083 None gnomAD-2.1.1 4.02E-06
5814 85 S/F 171 rs1318339227 0.4083 None gnomAD-4.0.0 1.59141E-06
5814 85 S/P 171 None 0.4083 None gnomAD-4.0.0 1.20032E-06
5815 86 A/G 172 None 0.0972 None gnomAD-4.0.0 6.84241E-07
5815 86 A/T 172 rs987166734 0.0972 None gnomAD-4.0.0 1.59146E-06
5817 88 L/F 174 None 0.1024 None gnomAD-4.0.0 1.20032E-06
5817 88 L/I 174 None 0.1024 None gnomAD-4.0.0 6.00161E-06
5818 89 S/L 175 rs749007462 0.3119 None gnomAD-2.1.1 1.21E-05
5818 89 S/L 175 rs749007462 0.3119 None gnomAD-3.1.2 6.57E-06
5818 89 S/L 175 rs749007462 0.3119 None gnomAD-4.0.0 6.19769E-06
5819 90 V/E 177 None 0.2127 None gnomAD-4.0.0 1.20032E-06
5819 90 V/I 177 None 0.2127 None gnomAD-4.0.0 1.59169E-06