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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
K P G P P T G P I K I D E I D A T S I T I S W E P P E L D G G A P L S G Y V V E Q R D A H R P G W L P V S E S V T R S T F K F T R L T E G N E Y V F R V A A T N R F G I G S Y L Q S E V I E C R S S I R I P G P P E T L Q I F D V S R D G M T L T W Y P P E D D G G S Q V T G Y I V E R K E V R A D R W V R V N K V P V T M T R Y R S T G L T E G L E Y E H R V T A I N A R G S G K P S R P S K P I V A M D P
K P G P P T G P I K I D E I D A T S I T I S W E P P E L D G G A P L S G Y V V E Q R D A H R P G W L P V S E S V T R S T F K F T R L T E G N E Y V F R V A A T N R F G I G S Y L Q S E V I E C R S - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32400 2 P/A 2 rs373876117 0.1577 None gnomAD-2.1.1 4.12E-06
32400 2 P/A 2 rs373876117 0.1577 None gnomAD-4.0.0 4.83393E-06
32400 2 P/T 2 rs373876117 0.1577 None gnomAD-2.1.1 1.16761E-04
32400 2 P/T 2 rs373876117 0.1577 None gnomAD-3.1.2 1.18343E-04
32400 2 P/T 2 rs373876117 0.1577 None 1000 genomes 1.99681E-04
32400 2 P/T 2 rs373876117 0.1577 None gnomAD-4.0.0 1.28725E-04
32401 3 G/R 3 rs1371025709 0.2645 None gnomAD-2.1.1 1.23E-05
32401 3 G/R 3 rs1371025709 0.2645 None gnomAD-4.0.0 2.76105E-06
32402 4 P/L 4 None 0.4102 None gnomAD-4.0.0 6.89587E-07
32402 4 P/R 4 rs761156054 0.4102 None gnomAD-2.1.1 2.18E-05
32402 4 P/R 4 rs761156054 0.4102 None gnomAD-3.1.2 1.32E-05
32402 4 P/R 4 rs761156054 0.4102 None gnomAD-4.0.0 1.68515E-05
32402 4 P/S 4 rs764632520 0.4102 None gnomAD-2.1.1 4.1E-06
32402 4 P/S 4 rs764632520 0.4102 None gnomAD-4.0.0 2.0691E-06
32402 4 P/T 4 rs764632520 0.4102 None gnomAD-2.1.1 2.18E-05
32402 4 P/T 4 rs764632520 0.4102 None gnomAD-3.1.2 1.31E-05
32402 4 P/T 4 rs764632520 0.4102 None gnomAD-4.0.0 1.68537E-05
32403 5 P/S 5 None 0.0983 None gnomAD-4.0.0 1.20033E-06
32404 6 T/I 6 rs752957686 0.3433 None gnomAD-2.1.1 4.08E-06
32404 6 T/I 6 rs752957686 0.3433 None gnomAD-4.0.0 2.75297E-06
32405 7 G/E 7 None 0.5141 None gnomAD-4.0.0 1.37631E-06
32405 7 G/R 7 rs767902989 0.5141 None gnomAD-2.1.1 4.07E-06
32405 7 G/R 7 rs767902989 0.5141 None gnomAD-4.0.0 1.61321E-06
32406 8 P/L 8 rs1469824341 0.7721 None gnomAD-2.1.1 4.07E-06
32406 8 P/L 8 rs1469824341 0.7721 None gnomAD-4.0.0 1.61253E-06
32407 9 I/M 9 None 0.1388 None gnomAD-4.0.0 1.605E-06
32407 9 I/N 9 None 0.1388 None gnomAD-4.0.0 1.20032E-06
32407 9 I/V 9 rs762555445 0.1388 None gnomAD-2.1.1 8.11E-06
32407 9 I/V 9 rs762555445 0.1388 None gnomAD-4.0.0 1.58022E-05
32408 10 K/T 11 rs1251245923 0.5430 None gnomAD-2.1.1 3.18E-05
32408 10 K/T 11 rs1251245923 0.5430 None gnomAD-3.1.2 6.57E-06
32408 10 K/T 11 rs1251245923 0.5430 None gnomAD-4.0.0 6.5722E-06
32409 11 I/M 12 None 0.2798 None gnomAD-4.0.0 6.85825E-07
32409 11 I/T 12 rs772914223 0.2798 None gnomAD-2.1.1 8.09E-06
32409 11 I/T 12 rs772914223 0.2798 None gnomAD-3.1.2 1.97E-05
32409 11 I/T 12 rs772914223 0.2798 None gnomAD-4.0.0 4.96967E-06
32409 11 I/V 12 None 0.2798 None gnomAD-4.0.0 1.20033E-06
32410 12 D/E 13 None 0.3705 None gnomAD-4.0.0 6.85687E-07
32412 14 I/T 15 rs761246419 0.2483 None gnomAD-2.1.1 1.21E-05
32412 14 I/T 15 rs761246419 0.2483 None gnomAD-3.1.2 1.31E-05
32412 14 I/T 15 rs761246419 0.2483 None gnomAD-4.0.0 1.30348E-05
32413 15 D/N 16 rs1695055645 0.4583 None gnomAD-3.1.2 1.31E-05
32413 15 D/N 16 rs1695055645 0.4583 None gnomAD-4.0.0 1.31453E-05
32414 16 A/T 17 None 0.2240 None gnomAD-4.0.0 1.5979E-06
32415 17 T/I 18 rs768529940 0.4822 None gnomAD-2.1.1 1.08E-05
32415 17 T/I 18 rs768529940 0.4822 None gnomAD-3.1.2 1.31E-05
32415 17 T/I 18 rs768529940 0.4822 None gnomAD-4.0.0 7.44529E-06
32416 18 S/L 19 rs377412567 0.1319 None gnomAD-2.1.1 6.09E-05
32416 18 S/L 19 rs377412567 0.1319 None gnomAD-3.1.2 8.54E-05
32416 18 S/L 19 rs377412567 0.1319 None gnomAD-4.0.0 1.48897E-04
32418 20 T/S 21 rs771893617 0.1141 None gnomAD-2.1.1 1.62E-05
32418 20 T/S 21 rs771893617 0.1141 None gnomAD-4.0.0 1.43498E-05
32419 21 I/V 22 rs746131466 0.0619 None gnomAD-2.1.1 8.07E-06
32419 21 I/V 22 rs746131466 0.0619 None gnomAD-4.0.0 3.18845E-06
32420 22 S/F 23 rs1393812138 0.1357 None gnomAD-4.0.0 1.20032E-06
32421 23 W/C 24 None 0.0981 None gnomAD-4.0.0 3.1876E-06
32422 24 E/K 25 rs1695041603 0.4763 None gnomAD-3.1.2 6.57E-06
32422 24 E/K 25 rs1695041603 0.4763 None gnomAD-4.0.0 6.57488E-06
32423 25 P/A 26 rs1225502808 0.3741 None gnomAD-2.1.1 3.18E-05
32423 25 P/A 26 rs1225502808 0.3741 None gnomAD-3.1.2 6.57E-06
32423 25 P/A 26 rs1225502808 0.3741 None gnomAD-4.0.0 6.57125E-06
32423 25 P/S 26 None 0.3741 None gnomAD-4.0.0 1.59347E-06
32423 25 P/T 26 None 0.3741 None gnomAD-4.0.0 1.59347E-06
32424 26 P/R 27 None 0.1376 None gnomAD-4.0.0 1.20032E-06
32425 27 E/D 28 None 0.9038 None gnomAD-4.0.0 1.59297E-06
32425 27 E/K 28 rs1169300714 0.9038 None gnomAD-2.1.1 4.03E-06
32425 27 E/K 28 rs1169300714 0.9038 None gnomAD-4.0.0 1.59306E-06
32428 30 G/D 31 rs1060500592 0.2972 None gnomAD-4.0.0 2.7374E-06
32428 30 G/S 31 rs757420687 0.2972 None gnomAD-2.1.1 1.79E-05
32428 30 G/S 31 rs757420687 0.2972 None gnomAD-3.1.2 3.94E-05
32428 30 G/S 31 rs757420687 0.2972 None gnomAD-4.0.0 1.11567E-05
32429 31 G/S 32 rs397517768 0.5899 None gnomAD-2.1.1 5.24E-05
32429 31 G/S 32 rs397517768 0.5899 None gnomAD-3.1.2 1.31E-05
32429 31 G/S 32 rs397517768 0.5899 None gnomAD-4.0.0 2.1781E-05
32429 31 G/V 32 None 0.5899 None gnomAD-4.0.0 1.59175E-06
32430 32 A/T 33 None 0.1602 None gnomAD-4.0.0 1.20033E-06
32431 33 P/L 34 rs1060500426 0.7541 None gnomAD-2.1.1 1.61E-05
32431 33 P/L 34 rs1060500426 0.7541 None gnomAD-4.0.0 7.95834E-06
32431 33 P/S 34 None 0.7541 None gnomAD-4.0.0 1.20032E-06
32432 34 L/P 35 rs1199606807 0.2773 None gnomAD-2.1.1 4.03E-06
32434 36 G/A 37 rs756736710 0.1262 None gnomAD-2.1.1 4.03E-06
32435 37 Y/C 38 rs1248603103 0.0948 None gnomAD-2.1.1 4.03E-06
32435 37 Y/C 38 rs1248603103 0.0948 None gnomAD-3.1.2 6.57E-06
32435 37 Y/C 38 rs1248603103 0.0948 None gnomAD-4.0.0 2.56253E-06
32437 39 V/I 40 None 0.0711 None gnomAD-4.0.0 1.5916E-06
32437 39 V/L 40 rs2154142556 0.0711 None gnomAD-4.0.0 1.5916E-06
32438 40 E/Q 41 None 0.1202 None gnomAD-4.0.0 1.20032E-06
32439 41 Q/K 42 rs767837705 0.2473 None gnomAD-2.1.1 7.15E-06
32439 41 Q/K 42 rs767837705 0.2473 None gnomAD-3.1.2 6.57E-06
32439 41 Q/K 42 rs767837705 0.2473 None gnomAD-4.0.0 6.40674E-06
32439 41 Q/R 42 None 0.2473 None gnomAD-4.0.0 1.20032E-06
32440 42 R/C 43 rs759932470 0.2134 None gnomAD-2.1.1 4.03E-06
32440 42 R/C 43 rs759932470 0.2134 None gnomAD-4.0.0 3.42133E-06
32440 42 R/H 43 rs750047570 0.2134 None gnomAD-2.1.1 7.15E-06
32440 42 R/H 43 rs750047570 0.2134 None gnomAD-3.1.2 1.31E-05
32440 42 R/H 43 rs750047570 0.2134 None gnomAD-4.0.0 9.91604E-06
32441 43 D/N 44 rs1232609141 0.2977 None gnomAD-2.1.1 4.03E-06
32441 43 D/N 44 rs1232609141 0.2977 None gnomAD-4.0.0 1.59157E-06
32442 44 A/S 50 rs778341120 0.1585 None gnomAD-3.1.2 6.57E-06
32442 44 A/S 50 rs778341120 0.1585 None gnomAD-4.0.0 1.85924E-06
32442 44 A/T 50 rs778341120 0.1585 None gnomAD-2.1.1 3.22E-05
32442 44 A/T 50 rs778341120 0.1585 None gnomAD-3.1.2 1.97E-05
32442 44 A/T 50 rs778341120 0.1585 None gnomAD-4.0.0 1.73529E-05
32443 45 H/R 54 None 0.7116 None gnomAD-4.0.0 2.05276E-06
32444 46 R/C 60 rs776164829 0.7015 None gnomAD-2.1.1 3.19E-05
32444 46 R/C 60 rs776164829 0.7015 None gnomAD-3.1.2 2.63E-05
32444 46 R/C 60 rs776164829 0.7015 None gnomAD-4.0.0 2.16912E-05
32444 46 R/H 60 rs184922462 0.7015 None gnomAD-2.1.1 2.42E-05
32444 46 R/H 60 rs184922462 0.7015 None gnomAD-3.1.2 3.29E-05
32444 46 R/H 60 rs184922462 0.7015 None gnomAD-4.0.0 4.09039E-05
32444 46 R/P 60 rs184922462 0.7015 None gnomAD-2.1.1 2.71667E-04
32444 46 R/P 60 rs184922462 0.7015 None gnomAD-3.1.2 2.89249E-04
32444 46 R/P 60 rs184922462 0.7015 None 1000 genomes 3.99361E-04
32444 46 R/P 60 rs184922462 0.7015 None gnomAD-4.0.0 2.41067E-04
32445 47 P/L 63 rs1330389316 0.9033 None gnomAD-2.1.1 4.03E-06
32445 47 P/L 63 rs1330389316 0.9033 None gnomAD-4.0.0 1.59154E-06
32446 48 G/R 64 None 0.4306 None gnomAD-4.0.0 1.20032E-06
32446 48 G/V 64 rs1410045812 0.4306 None gnomAD-2.1.1 4.03E-06
32446 48 G/V 64 rs1410045812 0.4306 None gnomAD-4.0.0 1.59154E-06
32447 49 W/C 65 None 0.2933 None gnomAD-4.0.0 1.20032E-06
32447 49 W/R 65 None 0.2933 None gnomAD-4.0.0 1.5915E-06
32449 51 P/T 67 rs1248314451 0.5970 None gnomAD-3.1.2 6.58E-06
32449 51 P/T 67 rs1248314451 0.5970 None gnomAD-4.0.0 9.91631E-06
32450 52 V/I 68 rs397517769 0.2551 None gnomAD-2.1.1 5.64E-05
32450 52 V/I 68 rs397517769 0.2551 None gnomAD-3.1.2 3.95E-05
32450 52 V/I 68 rs397517769 0.2551 None 1000 genomes 3.99361E-04
32450 52 V/I 68 rs397517769 0.2551 None gnomAD-4.0.0 3.96623E-05
32451 53 S/C 69 None 0.1789 None gnomAD-4.0.0 1.5915E-06
32454 56 V/A 77 None 0.0960 None gnomAD-4.0.0 1.59151E-06
32454 56 V/M 77 None 0.0960 None gnomAD-4.0.0 1.59153E-06
32456 58 R/G 88 None 0.7432 None gnomAD-4.0.0 7.52681E-06
32456 58 R/K 88 rs879169496 0.7432 None gnomAD-4.0.0 1.20032E-06
32456 58 R/S 88 rs771232040 0.7432 None gnomAD-2.1.1 4.02E-06
32456 58 R/S 88 rs771232040 0.7432 None gnomAD-4.0.0 1.36852E-06
32458 60 T/A 90 rs1362121048 0.2782 None gnomAD-2.1.1 4.02E-06
32458 60 T/A 90 rs1362121048 0.2782 None gnomAD-4.0.0 1.59154E-06
32458 60 T/K 90 None 0.2782 None gnomAD-4.0.0 1.36853E-06
32458 60 T/M 90 rs749501290 0.2782 None gnomAD-2.1.1 7.15E-06
32458 60 T/M 90 rs749501290 0.2782 None gnomAD-3.1.2 6.58E-06
32458 60 T/M 90 rs749501290 0.2782 None gnomAD-4.0.0 1.85934E-06
32459 61 F/I 91 rs56009327 0.1525 None gnomAD-4.0.0 1.8475E-05
32459 61 F/V 91 None 0.1525 None gnomAD-4.0.0 6.84258E-07
32460 62 K/E 92 rs965156924 0.2397 None gnomAD-3.1.2 4.6E-05
32460 62 K/E 92 rs965156924 0.2397 None gnomAD-4.0.0 4.60254E-05
32463 65 R/G 96 rs1398002611 0.8123 None gnomAD-2.1.1 9.56E-05
32463 65 R/G 96 rs1398002611 0.8123 None gnomAD-3.1.2 1.31E-05
32463 65 R/G 96 rs1398002611 0.8123 None gnomAD-4.0.0 5.12568E-06
32463 65 R/K 96 rs1257117887 0.8123 None gnomAD-2.1.1 4.03E-06
32463 65 R/K 96 rs1257117887 0.8123 None gnomAD-4.0.0 3.18322E-06
32464 66 L/R 97 rs756216070 0.1093 None gnomAD-2.1.1 4.03E-06
32464 66 L/R 97 rs756216070 0.1093 None gnomAD-4.0.0 2.73711E-06
32464 66 L/V 97 None 0.1093 None gnomAD-4.0.0 1.59163E-06
32465 67 T/A 98 rs753202914 0.4853 None gnomAD-2.1.1 4.03E-06
32465 67 T/A 98 rs753202914 0.4853 None gnomAD-4.0.0 1.59167E-06
32465 67 T/I 98 None 0.4853 None gnomAD-4.0.0 1.20032E-06
32465 67 T/S 98 None 0.4853 None gnomAD-4.0.0 1.20032E-06
32466 68 E/K 99 rs55915651 0.4535 None gnomAD-2.1.1 8.23E-05
32466 68 E/K 99 rs55915651 0.4535 None gnomAD-3.1.2 3.95E-05
32466 68 E/K 99 rs55915651 0.4535 None 1000 genomes 1.99681E-04
32466 68 E/K 99 rs55915651 0.4535 None gnomAD-4.0.0 4.02855E-05
32466 68 E/Q 99 None 0.4535 None gnomAD-4.0.0 6.84307E-07
32467 69 G/E 100 rs2154142486 0.3912 None gnomAD-4.0.0 1.20032E-06
32467 69 G/R 100 rs2154142487 0.3912 None gnomAD-4.0.0 1.20032E-06
32468 70 N/K 102 None 0.3916 None gnomAD-4.0.0 2.40134E-06
32469 71 E/K 103 rs1280768790 0.3834 None gnomAD-2.1.1 4.03E-06
32469 71 E/K 103 rs1280768790 0.3834 None gnomAD-3.1.2 6.57E-06
32469 71 E/K 103 rs1280768790 0.3834 None gnomAD-4.0.0 3.71895E-06
32470 72 Y/C 104 None 0.1401 None gnomAD-4.0.0 1.36866E-06
32470 72 Y/D 104 rs766707276 0.1401 None gnomAD-2.1.1 8.06E-06
32470 72 Y/D 104 rs766707276 0.1401 None gnomAD-4.0.0 2.73734E-06
32470 72 Y/F 104 None 0.1401 None gnomAD-4.0.0 6.8433E-07
32470 72 Y/H 104 None 0.1401 None gnomAD-4.0.0 6.84334E-07
32471 73 V/A 105 rs1412547429 0.1124 None gnomAD-3.1.2 6.57E-06
32471 73 V/A 105 rs1412547429 0.1124 None gnomAD-4.0.0 6.57203E-06
32472 74 F/S 106 None 0.0755 None gnomAD-4.0.0 1.20032E-06
32473 75 R/C 107 rs371924787 0.1492 None gnomAD-2.1.1 2.02E-05
32473 75 R/C 107 rs371924787 0.1492 None gnomAD-3.1.2 6.58E-06
32473 75 R/C 107 rs371924787 0.1492 None gnomAD-4.0.0 2.2317E-05
32473 75 R/H 107 rs397517770 0.1492 None gnomAD-2.1.1 1.73521E-04
32473 75 R/H 107 rs397517770 0.1492 None gnomAD-3.1.2 4.6E-05
32473 75 R/H 107 rs397517770 0.1492 None 1000 genomes 5.99042E-04
32473 75 R/H 107 rs397517770 0.1492 None gnomAD-4.0.0 9.35973E-05
32474 76 V/M 108 rs763649965 0.0631 None gnomAD-2.1.1 4.03E-06
32474 76 V/M 108 rs763649965 0.0631 None gnomAD-4.0.0 1.59234E-06
32475 77 A/T 109 rs1347342208 0.0657 None gnomAD-3.1.2 6.58E-06
32475 77 A/T 109 rs1347342208 0.0657 None gnomAD-4.0.0 3.0451E-06
32476 78 A/T 110 rs760169773 0.0860 None gnomAD-2.1.1 1.43E-05
32476 78 A/T 110 rs760169773 0.0860 None gnomAD-3.1.2 6.57E-06
32476 78 A/T 110 rs760169773 0.0860 None gnomAD-4.0.0 1.30189E-05
32476 78 A/V 110 None 0.0860 None gnomAD-4.0.0 1.5928E-06
32477 79 T/I 111 None 0.1405 None gnomAD-4.0.0 2.05347E-06
32478 80 N/D 112 None 0.1011 None gnomAD-4.0.0 1.20032E-06
32478 80 N/K 112 rs786205295 0.1011 None gnomAD-4.0.0 1.36908E-06
32478 80 N/T 112 rs876658096 0.1011 None gnomAD-2.1.1 2.51E-05
32478 80 N/T 112 rs876658096 0.1011 None gnomAD-3.1.2 8.55E-05
32478 80 N/T 112 rs876658096 0.1011 None gnomAD-4.0.0 2.04601E-05
32479 81 R/C 113 rs200148139 0.5318 None gnomAD-2.1.1 8.09E-06
32479 81 R/C 113 rs200148139 0.5318 None gnomAD-4.0.0 4.79196E-06
32479 81 R/H 113 rs369845358 0.5318 None gnomAD-2.1.1 6.11E-05
32479 81 R/H 113 rs369845358 0.5318 None gnomAD-3.1.2 1.31492E-04
32479 81 R/H 113 rs369845358 0.5318 None 1000 genomes 1.99681E-04
32479 81 R/H 113 rs369845358 0.5318 None gnomAD-4.0.0 3.53409E-05
32479 81 R/S 113 rs200148139 0.5318 None gnomAD-2.1.1 1.3639E-04
32479 81 R/S 113 rs200148139 0.5318 None gnomAD-3.1.2 8.55E-05
32479 81 R/S 113 rs200148139 0.5318 None gnomAD-4.0.0 9.54818E-05
32480 82 F/L 114 rs537143465 0.5672 None gnomAD-3.1.2 6.57E-06
32480 82 F/L 114 rs537143465 0.5672 None gnomAD-4.0.0 1.24027E-06
32480 82 F/V 114 None 0.5672 None gnomAD-4.0.0 1.59335E-06
32480 82 F/Y 114 rs1182394964 0.5672 None gnomAD-2.1.1 3.19E-05
32480 82 F/Y 114 rs1182394964 0.5672 None gnomAD-3.1.2 6.57E-06
32480 82 F/Y 114 rs1182394964 0.5672 None gnomAD-4.0.0 6.57436E-06
32481 83 G/E 115 rs201364164 0.2425 None gnomAD-2.1.1 8.93E-05
32481 83 G/E 115 rs201364164 0.2425 None gnomAD-3.1.2 3.94E-05
32481 83 G/E 115 rs201364164 0.2425 None gnomAD-4.0.0 7.06922E-05
32481 83 G/R 115 rs111616037 0.2425 None gnomAD-2.1.1 2.84E-05
32481 83 G/R 115 rs111616037 0.2425 None gnomAD-3.1.2 6.57E-06
32481 83 G/R 115 rs111616037 0.2425 None gnomAD-4.0.0 5.58138E-06
32482 84 I/T 117 rs773555433 0.6300 None gnomAD-2.1.1 1.22E-05
32482 84 I/T 117 rs773555433 0.6300 None gnomAD-4.0.0 2.46521E-05
32483 85 G/C 118 None 0.2360 None gnomAD-4.0.0 2.40064E-06
32484 86 S/C 119 None 0.3964 None gnomAD-4.0.0 1.3699E-06
32484 86 S/F 119 rs1462608160 0.3964 None gnomAD-3.1.2 6.57E-06
32484 86 S/F 119 rs1462608160 0.3964 None gnomAD-4.0.0 1.24063E-06
32485 87 Y/H 120 None 0.3963 None gnomAD-4.0.0 1.20032E-06
32486 88 L/V 121 rs769778547 0.1749 None gnomAD-2.1.1 4.08E-06
32486 88 L/V 121 rs769778547 0.1749 None gnomAD-4.0.0 1.59606E-06
32488 90 S/F 123 None 0.1579 None gnomAD-4.0.0 1.23355E-05
32488 90 S/P 123 None 0.1579 None gnomAD-4.0.0 1.20032E-06
32489 91 E/G 124 rs987967114 0.9325 None gnomAD-2.1.1 8.2E-06
32489 91 E/G 124 rs987967114 0.9325 None gnomAD-4.0.0 3.19546E-06
32489 91 E/Q 124 None 0.9325 None gnomAD-4.0.0 4.79278E-06
32490 92 V/I 126 rs935193898 0.4658 None gnomAD-2.1.1 4.1E-06
32490 92 V/I 126 rs935193898 0.4658 None gnomAD-4.0.0 4.11265E-06
32491 93 I/K 127 None 0.1504 None gnomAD-4.0.0 6.8563E-07
32491 93 I/L 127 rs1178554764 0.1504 None gnomAD-3.1.2 6.57E-06
32491 93 I/L 127 rs1178554764 0.1504 None gnomAD-4.0.0 6.57272E-06
32491 93 I/T 127 rs781572378 0.1504 None gnomAD-2.1.1 3.27E-05
32491 93 I/T 127 rs781572378 0.1504 None gnomAD-3.1.2 4.6E-05
32491 93 I/T 127 rs781572378 0.1504 None gnomAD-4.0.0 2.29723E-05
32493 95 C/G 130 None 0.0696 None gnomAD-4.0.0 1.60681E-06
32494 96 R/C 131 rs727503539 0.5260 None gnomAD-2.1.1 2.07E-05
32494 96 R/C 131 rs727503539 0.5260 None gnomAD-3.1.2 4.6E-05
32494 96 R/C 131 rs727503539 0.5260 None gnomAD-4.0.0 1.24445E-05
32494 96 R/H 131 rs371645048 0.5260 None gnomAD-2.1.1 3.3E-05
32494 96 R/H 131 rs371645048 0.5260 None gnomAD-3.1.2 2.63E-05
32494 96 R/H 131 rs371645048 0.5260 None gnomAD-4.0.0 8.77626E-05
32495 97 S/G 132 rs1328086725 0.5594 None gnomAD-2.1.1 4.14E-06