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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 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 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

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