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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29335 1 A/P 1 None 0.8973 None gnomAD-4.0.0 2.05262E-06
29336 2 C/G 2 rs1701872687 0.1460 None gnomAD-4.0.0 1.59127E-06
29336 2 C/S 2 rs1328042296 0.1460 None gnomAD-3.1.2 6.57E-06
29336 2 C/S 2 rs1328042296 0.1460 None gnomAD-4.0.0 6.56625E-06
29336 2 C/Y 2 rs1328042296 0.1460 None gnomAD-2.1.1 3.18E-05
29336 2 C/Y 2 rs1328042296 0.1460 None gnomAD-3.1.2 6.57E-06
29336 2 C/Y 2 rs1328042296 0.1460 None gnomAD-4.0.0 3.84326E-06
29338 4 P/H 4 rs1274987792 0.2772 None gnomAD-2.1.1 4.05E-06
29338 4 P/H 4 rs1274987792 0.2772 None gnomAD-4.0.0 1.59237E-06
29338 4 P/S 4 rs774162189 0.2772 None gnomAD-2.1.1 8.5E-05
29338 4 P/S 4 rs774162189 0.2772 None gnomAD-3.1.2 1.97E-05
29338 4 P/S 4 rs774162189 0.2772 None gnomAD-4.0.0 3.22324E-05
29338 4 P/T 4 rs774162189 0.2772 None gnomAD-4.0.0 6.84413E-07
29339 5 P/A 5 rs1701796563 0.1186 None gnomAD-4.0.0 1.36884E-06
29339 5 P/L 5 None 0.1186 None gnomAD-4.0.0 3.42183E-06
29343 9 R/C 11 None 0.3584 None gnomAD-4.0.0 4.79039E-06
29343 9 R/H 11 rs73036368 0.3584 None gnomAD-2.1.1 1.50565E-04
29343 9 R/H 11 rs73036368 0.3584 None gnomAD-3.1.2 4.53422E-04
29343 9 R/H 11 rs73036368 0.3584 None 1000 genomes 9.98403E-04
29343 9 R/H 11 rs73036368 0.3584 None gnomAD-4.0.0 1.81584E-04
29343 9 R/P 11 None 0.3584 None gnomAD-4.0.0 6.15898E-06
29344 10 I/N 12 rs762659029 0.2453 None gnomAD-2.1.1 1.21E-05
29344 10 I/N 12 rs762659029 0.2453 None gnomAD-4.0.0 7.52725E-06
29344 10 I/T 12 rs762659029 0.2453 None gnomAD-2.1.1 6.37E-05
29344 10 I/T 12 rs762659029 0.2453 None gnomAD-3.1.2 1.31E-05
29344 10 I/T 12 rs762659029 0.2453 None gnomAD-4.0.0 1.85924E-06
29345 11 T/A 13 rs878854427 0.4755 None gnomAD-4.0.0 1.0949E-05
29345 11 T/I 13 rs1701792162 0.4755 None gnomAD-3.1.2 6.57E-06
29345 11 T/I 13 rs1701792162 0.4755 None gnomAD-4.0.0 6.5697E-06
29346 12 D/A 14 None 0.5670 None gnomAD-2.1.1 4.04E-06
29346 12 D/A 14 None 0.5670 None gnomAD-4.0.0 2.73718E-06
29346 12 D/G 14 rs374741129 0.5670 None gnomAD-3.1.2 6.57E-06
29346 12 D/G 14 rs374741129 0.5670 None gnomAD-4.0.0 6.56953E-06
29346 12 D/V 14 rs374741129 0.5670 None gnomAD-2.1.1 4.04E-05
29346 12 D/V 14 rs374741129 0.5670 None gnomAD-3.1.2 1.31E-05
29346 12 D/V 14 rs374741129 0.5670 None gnomAD-4.0.0 2.41699E-05
29347 13 I/T 15 rs1200964659 0.3047 None gnomAD-2.1.1 3.18E-05
29347 13 I/T 15 rs1200964659 0.3047 None gnomAD-3.1.2 6.57E-06
29347 13 I/T 15 rs1200964659 0.3047 None gnomAD-4.0.0 2.47899E-06
29349 15 K/N 17 rs748102856 0.6676 None gnomAD-2.1.1 4.04E-06
29349 15 K/N 17 rs748102856 0.6676 None gnomAD-4.0.0 1.36857E-06
29350 16 N/T 18 rs1218350204 0.5164 None gnomAD-3.1.2 6.57E-06
29350 16 N/T 18 rs1218350204 0.5164 None gnomAD-4.0.0 6.57298E-06
29352 18 V/I 20 None 0.1417 None gnomAD-4.0.0 6.84282E-07
29352 18 V/L 20 None 0.1417 None gnomAD-4.0.0 6.84282E-07
29353 19 S/R 21 rs1311421658 0.1672 None gnomAD-2.1.1 1.07E-05
29353 19 S/R 21 rs1311421658 0.1672 None gnomAD-3.1.2 1.31E-05
29353 19 S/R 21 rs1311421658 0.1672 None gnomAD-4.0.0 9.29609E-06
29354 20 L/V 22 None 0.1129 None gnomAD-4.0.0 1.20032E-06
29355 21 S/P 23 rs768443497 0.1661 None gnomAD-2.1.1 4.03E-06
29355 21 S/P 23 rs768443497 0.1661 None gnomAD-3.1.2 6.57E-06
29355 21 S/P 23 rs768443497 0.1661 None gnomAD-4.0.0 6.57039E-06
29360 26 A/G 28 None 0.4278 None gnomAD-4.0.0 1.20032E-06
29361 27 F/L 29 rs746746013 0.4144 None gnomAD-4.0.0 6.84284E-07
29362 28 D/G 30 rs1414215784 0.2352 None gnomAD-2.1.1 7.15E-06
29362 28 D/G 30 rs1414215784 0.2352 None gnomAD-3.1.2 1.97E-05
29362 28 D/G 30 rs1414215784 0.2352 None gnomAD-4.0.0 8.67641E-06
29362 28 D/N 30 rs546300309 0.2352 None gnomAD-2.1.1 4.03E-06
29362 28 D/N 30 rs546300309 0.2352 None gnomAD-3.1.2 3.29E-05
29362 28 D/N 30 rs546300309 0.2352 None gnomAD-4.0.0 1.85918E-05
29362 28 D/Y 30 rs546300309 0.2352 None gnomAD-2.1.1 4.03E-06
29362 28 D/Y 30 rs546300309 0.2352 None gnomAD-4.0.0 6.84296E-07
29363 29 G/A 31 None 0.2566 None gnomAD-4.0.0 1.59163E-06
29363 29 G/E 31 rs1256602941 0.2566 None gnomAD-2.1.1 4.03E-06
29363 29 G/E 31 rs1256602941 0.2566 None gnomAD-4.0.0 1.59163E-06
29364 30 G/S 32 rs183013408 0.5249 None gnomAD-2.1.1 3.86092E-04
29364 30 G/S 32 rs183013408 0.5249 None gnomAD-3.1.2 3.41683E-04
29364 30 G/S 32 rs183013408 0.5249 None 1000 genomes 5.99042E-04
29364 30 G/S 32 rs183013408 0.5249 None gnomAD-4.0.0 5.49039E-04
29365 31 S/G 33 rs1207057627 0.2052 None gnomAD-4.0.0 1.20032E-06
29366 32 K/N 34 None 0.7623 None gnomAD-4.0.0 1.3685E-06
29367 33 I/T 35 rs778882176 0.1298 None gnomAD-2.1.1 4.02E-06
29367 33 I/T 35 rs778882176 0.1298 None gnomAD-3.1.2 6.57E-06
29367 33 I/T 35 rs778882176 0.1298 None gnomAD-4.0.0 5.12464E-06
29368 34 T/I 36 rs757375731 0.3472 None gnomAD-2.1.1 2.01E-05
29368 34 T/I 36 rs757375731 0.3472 None gnomAD-4.0.0 7.52672E-06
29369 35 G/C 37 None 0.0862 None gnomAD-4.0.0 1.59141E-06
29369 35 G/D 37 rs55898359 0.0862 None gnomAD-2.1.1 2.41E-05
29369 35 G/D 37 rs55898359 0.0862 None gnomAD-4.0.0 3.42118E-06
29369 35 G/V 37 rs55898359 0.0862 None gnomAD-2.1.1 1.21479E-04
29369 35 G/V 37 rs55898359 0.0862 None gnomAD-3.1.2 6.57E-05
29369 35 G/V 37 rs55898359 0.0862 None 1000 genomes 1.99681E-04
29369 35 G/V 37 rs55898359 0.0862 None gnomAD-4.0.0 3.0984E-05
29370 36 Y/C 38 rs756679529 0.1001 None gnomAD-2.1.1 4.43E-05
29370 36 Y/C 38 rs756679529 0.1001 None gnomAD-3.1.2 1.31E-05
29370 36 Y/C 38 rs756679529 0.1001 None gnomAD-4.0.0 8.67571E-06
29370 36 Y/H 38 None 0.1001 None gnomAD-4.0.0 3.60097E-06
29371 37 I/F 39 None 0.2637 None gnomAD-4.0.0 1.59143E-06
29371 37 I/N 39 rs767890385 0.2637 None gnomAD-2.1.1 4.02E-06
29371 37 I/N 39 rs767890385 0.2637 None gnomAD-3.1.2 6.57E-06
29371 37 I/N 39 rs767890385 0.2637 None gnomAD-4.0.0 1.85912E-06
29371 37 I/T 39 rs767890385 0.2637 None gnomAD-2.1.1 4.02E-05
29371 37 I/T 39 rs767890385 0.2637 None gnomAD-3.1.2 1.31E-05
29371 37 I/T 39 rs767890385 0.2637 None gnomAD-4.0.0 2.5408E-05
29371 37 I/V 39 rs1229603276 0.2637 None gnomAD-2.1.1 4.02E-06
29371 37 I/V 39 rs1229603276 0.2637 None gnomAD-4.0.0 3.18286E-06
29372 38 V/A 40 None 0.0842 None gnomAD-4.0.0 1.20032E-06
29372 38 V/L 40 None 0.0842 None gnomAD-4.0.0 2.40064E-06
29373 39 E/K 41 rs762557803 0.1486 None gnomAD-2.1.1 6.84E-05
29373 39 E/K 41 rs762557803 0.1486 None gnomAD-4.0.0 2.70543E-05
29374 40 R/K 42 rs878969198 0.2443 None gnomAD-2.1.1 3.19E-05
29374 40 R/K 42 rs878969198 0.2443 None gnomAD-3.1.2 1.97E-05
29374 40 R/K 42 rs878969198 0.2443 None gnomAD-4.0.0 3.71818E-06
29374 40 R/T 42 None 0.2443 None gnomAD-4.0.0 1.36846E-06
29375 41 R/C 43 rs368439674 0.2671 None gnomAD-2.1.1 8.05E-05
29375 41 R/C 43 rs368439674 0.2671 None gnomAD-3.1.2 9.86E-05
29375 41 R/C 43 rs368439674 0.2671 None gnomAD-4.0.0 3.16057E-05
29375 41 R/H 43 rs761246441 0.2671 None gnomAD-2.1.1 2.41E-05
29375 41 R/H 43 rs761246441 0.2671 None gnomAD-3.1.2 1.31E-05
29375 41 R/H 43 rs761246441 0.2671 None gnomAD-4.0.0 1.11551E-05
29375 41 R/L 43 rs761246441 0.2671 None gnomAD-3.1.2 6.57E-06
29375 41 R/L 43 rs761246441 0.2671 None gnomAD-4.0.0 6.57289E-06
29375 41 R/S 43 None 0.2671 None gnomAD-4.0.0 6.84235E-07
29376 42 D/E 44 rs1294808969 0.4006 None gnomAD-4.0.0 1.36846E-06
29376 42 D/V 44 None 0.4006 None gnomAD-4.0.0 1.59138E-06
29377 43 L/F 50 rs908918470 0.3364 None gnomAD-2.1.1 4.02E-06
29377 43 L/F 50 rs908918470 0.3364 None gnomAD-3.1.2 6.57E-06
29377 43 L/F 50 rs908918470 0.3364 None gnomAD-4.0.0 3.84335E-06
29378 44 P/A 54 rs776560772 0.6446 None gnomAD-2.1.1 4.02E-06
29378 44 P/S 54 None 0.6446 None gnomAD-4.0.0 1.20032E-06
29379 45 D/N 60 rs1285049057 0.9616 None gnomAD-2.1.1 6.37E-05
29379 45 D/N 60 rs1285049057 0.9616 None gnomAD-3.1.2 1.97E-05
29379 45 D/N 60 rs1285049057 0.9616 None gnomAD-4.0.0 7.68677E-06
29380 46 G/D 63 rs1701762557 0.2925 None gnomAD-4.0.0 1.27307E-05
29382 48 W/C 65 rs937554101 0.2791 None gnomAD-3.1.2 6.57E-06
29382 48 W/C 65 rs937554101 0.2791 None gnomAD-4.0.0 6.19719E-06
29383 49 T/I 66 rs2154155238 0.3185 None gnomAD-3.1.2 6.57E-06
29383 49 T/S 66 rs2154155238 0.3185 None gnomAD-4.0.0 1.20032E-06
29385 51 A/T 68 None 0.1195 None gnomAD-4.0.0 1.20032E-06
29386 52 S/C 69 rs727505102 0.0887 None gnomAD-2.1.1 8.85E-05
29386 52 S/C 69 rs727505102 0.0887 None gnomAD-3.1.2 1.31E-05
29386 52 S/C 69 rs727505102 0.0887 None gnomAD-4.0.0 1.61121E-05
29386 52 S/G 69 None 0.0887 None gnomAD-4.0.0 6.84222E-07
29388 54 T/I 72 rs775200192 0.7448 None gnomAD-2.1.1 4.02E-06
29388 54 T/I 72 rs775200192 0.7448 None gnomAD-3.1.2 1.31E-05
29388 54 T/I 72 rs775200192 0.7448 None gnomAD-4.0.0 3.84337E-06
29388 54 T/N 72 rs775200192 0.7448 None gnomAD-2.1.1 8.04E-06
29388 54 T/N 72 rs775200192 0.7448 None gnomAD-4.0.0 3.18261E-06
29389 55 N/D 75 rs1343788854 0.5161 None gnomAD-2.1.1 3.18E-05
29389 55 N/D 75 rs1343788854 0.5161 None gnomAD-3.1.2 6.57E-06
29389 55 N/D 75 rs1343788854 0.5161 None gnomAD-4.0.0 6.57142E-06
29389 55 N/S 75 rs1016296780 0.5161 None gnomAD-2.1.1 4.02E-06
29389 55 N/S 75 rs1016296780 0.5161 None gnomAD-4.0.0 7.52639E-06
29390 56 V/I 77 rs1701757178 0.1017 None gnomAD-3.1.2 6.57E-06
29390 56 V/I 77 rs1701757178 0.1017 None gnomAD-4.0.0 6.57203E-06
29390 56 V/L 77 None 0.1017 None gnomAD-4.0.0 1.59132E-06
29391 57 T/S 83 rs771850921 0.6155 None gnomAD-2.1.1 8.04E-06
29391 57 T/S 83 rs771850921 0.6155 None gnomAD-4.0.0 1.36844E-06
29392 58 E/K 88 rs1553551691 0.5384 None gnomAD-4.0.0 3.18261E-06
29393 59 T/I 89 rs746109021 0.2574 None gnomAD-2.1.1 4.02E-06
29393 59 T/I 89 rs746109021 0.2574 None gnomAD-4.0.0 1.59131E-06
29393 59 T/S 89 rs746109021 0.2574 None gnomAD-2.1.1 4.02E-06
29393 59 T/S 89 rs746109021 0.2574 None gnomAD-4.0.0 1.59131E-06
29395 61 F/L 91 rs55940667 0.2040 None gnomAD-2.1.1 1.39264E-04
29395 61 F/L 91 rs55940667 0.2040 None gnomAD-3.1.2 9.86E-05
29395 61 F/L 91 rs55940667 0.2040 None 1000 genomes 3.99361E-04
29395 61 F/L 91 rs55940667 0.2040 None gnomAD-4.0.0 3.65591E-05
29396 62 I/T 92 rs9808377 0.6066 None gnomAD-2.1.1 3.50522E-01
29396 62 I/T 92 rs9808377 0.6066 None gnomAD-3.1.2 3.60337E-01
29396 62 I/T 92 rs9808377 0.6066 None 1000 genomes 5.07188E-01
29396 62 I/T 92 rs9808377 0.6066 None gnomAD-4.0.0 2.75309E-01
29397 63 I/T 93 rs1475393277 0.0992 None gnomAD-3.1.2 6.57E-06
29397 63 I/T 93 rs1475393277 0.0992 None gnomAD-4.0.0 6.57194E-06
29397 63 I/V 93 rs1701748367 0.0992 None gnomAD-4.0.0 1.36853E-06
29398 64 S/A 94 None 0.6261 None gnomAD-4.0.0 6.8421E-07
29399 65 G/A 96 rs1701744078 0.5509 None gnomAD-3.1.2 6.57E-06
29399 65 G/A 96 rs1701744078 0.5509 None gnomAD-4.0.0 2.56222E-06
29400 66 L/F 97 None 0.1298 None gnomAD-4.0.0 6.84218E-07
29401 67 T/I 98 None 0.5286 None gnomAD-4.0.0 6.84215E-07
29401 67 T/N 98 None 0.5286 None gnomAD-4.0.0 6.84215E-07
29402 68 Q/E 99 None 0.4836 None gnomAD-4.0.0 1.5913E-06
29404 70 S/F 102 rs1701741272 0.2461 None gnomAD-3.1.2 6.57E-06
29404 70 S/F 102 rs1701741272 0.2461 None gnomAD-4.0.0 6.57186E-06
29404 70 S/Y 102 None 0.2461 None gnomAD-4.0.0 1.36843E-06
29405 71 Q/L 103 rs777999009 0.4239 None gnomAD-4.0.0 6.84214E-07
29405 71 Q/R 103 rs777999009 0.4239 None gnomAD-2.1.1 4.83E-05
29405 71 Q/R 103 rs777999009 0.4239 None gnomAD-4.0.0 2.05264E-05
29406 72 Y/N 104 None 0.1403 None gnomAD-4.0.0 6.84211E-07
29408 74 F/I 106 None 0.1082 None gnomAD-4.0.0 1.59127E-06
29409 75 R/C 107 rs756724511 0.1404 None gnomAD-2.1.1 1.61E-05
29409 75 R/C 107 rs756724511 0.1404 None gnomAD-3.1.2 2.63E-05
29409 75 R/C 107 rs756724511 0.1404 None gnomAD-4.0.0 2.29288E-05
29409 75 R/H 107 rs753223608 0.1404 None gnomAD-2.1.1 2.86E-05
29409 75 R/H 107 rs753223608 0.1404 None gnomAD-3.1.2 1.97E-05
29409 75 R/H 107 rs753223608 0.1404 None gnomAD-4.0.0 1.61121E-05
29410 76 V/A 108 None 0.0774 None gnomAD-4.0.0 1.20032E-06
29411 77 F/L 109 rs1701736067 0.1766 None gnomAD-3.1.2 6.57E-06
29411 77 F/L 109 rs1701736067 0.1766 None gnomAD-4.0.0 6.57056E-06
29411 77 F/Y 109 rs1433228812 0.1766 None gnomAD-2.1.1 4.02E-06
29411 77 F/Y 109 rs1433228812 0.1766 None gnomAD-4.0.0 1.59127E-06
29412 78 A/V 110 None 0.0918 None gnomAD-4.0.0 6.84221E-07
29416 82 V/A 114 None 0.7810 None gnomAD-4.0.0 1.59134E-06
29416 82 V/F 114 rs755325663 0.7810 None gnomAD-2.1.1 2.5E-05
29416 82 V/F 114 rs755325663 0.7810 None gnomAD-3.1.2 7.23E-05
29416 82 V/F 114 rs755325663 0.7810 None gnomAD-4.0.0 1.36334E-05
29416 82 V/I 114 None 0.7810 None gnomAD-4.0.0 6.84223E-07
29417 83 G/C 115 None 0.3891 None gnomAD-4.0.0 6.84226E-07
29417 83 G/R 115 rs750047438 0.3891 None gnomAD-2.1.1 4.02E-06
29417 83 G/R 115 rs750047438 0.3891 None gnomAD-4.0.0 6.84226E-07
29418 84 S/C 116 rs553614377 0.2801 None gnomAD-2.1.1 4.02E-06
29418 84 S/Y 116 rs553614377 0.2801 None gnomAD-2.1.1 4.02E-06
29418 84 S/Y 116 rs553614377 0.2801 None gnomAD-3.1.2 1.97E-05
29418 84 S/Y 116 rs553614377 0.2801 None 1000 genomes 1.99681E-04
29418 84 S/Y 116 rs553614377 0.2801 None gnomAD-4.0.0 5.12374E-06
29419 85 I/S 117 rs1406975324 0.4454 None gnomAD-2.1.1 4.02E-06
29419 85 I/S 117 rs1406975324 0.4454 None gnomAD-4.0.0 1.59131E-06
29419 85 I/V 117 rs1273849394 0.4454 None gnomAD-4.0.0 1.59131E-06
29420 86 S/N 118 rs1415733680 0.1077 None gnomAD-3.1.2 6.57E-06
29420 86 S/N 118 rs1415733680 0.1077 None gnomAD-4.0.0 3.84324E-06
29420 86 S/R 118 rs1312502975 0.1077 None gnomAD-3.1.2 6.57E-06
29420 86 S/R 118 rs1312502975 0.1077 None gnomAD-4.0.0 3.84325E-06
29421 87 N/H 119 None 0.7870 None gnomAD-4.0.0 1.20032E-06
29422 88 P/A 120 rs1414305688 0.3223 None gnomAD-2.1.1 8.05E-06
29422 88 P/A 120 rs1414305688 0.3223 None gnomAD-4.0.0 3.18278E-06
29422 88 P/L 120 rs753410959 0.3223 None gnomAD-2.1.1 4.03E-06
29422 88 P/L 120 rs753410959 0.3223 None gnomAD-3.1.2 1.31E-05
29422 88 P/L 120 rs753410959 0.3223 None gnomAD-4.0.0 8.67591E-06
29423 89 S/P 121 rs1701723735 0.1553 None gnomAD-3.1.2 6.57E-06
29423 89 S/P 121 rs1701723735 0.1553 None gnomAD-4.0.0 6.56953E-06
29423 89 S/T 121 None 0.1553 None gnomAD-4.0.0 1.59136E-06
29424 90 E/D 122 rs9808036 0.9735 None gnomAD-4.0.0 3.42122E-06
29424 90 E/K 122 None 0.9735 None gnomAD-4.0.0 3.18278E-06
29424 90 E/Q 122 rs763574979 0.9735 None gnomAD-2.1.1 4.02E-06
29424 90 E/Q 122 rs763574979 0.9735 None gnomAD-4.0.0 1.59139E-06
29425 91 V/D 123 None 0.3547 None gnomAD-4.0.0 3.18286E-06
29425 91 V/F 123 rs1701721466 0.3547 None gnomAD-4.0.0 2.73695E-06
29426 92 V/A 124 None 0.1970 None gnomAD-4.0.0 5.474E-06
29426 92 V/G 124 None 0.1970 None gnomAD-4.0.0 6.8425E-07
29427 93 G/A 125 rs1188741659 0.3617 None gnomAD-2.1.1 4.03E-06
29427 93 G/A 125 rs1188741659 0.3617 None gnomAD-4.0.0 6.84265E-07
29427 93 G/E 125 rs1188741659 0.3617 None gnomAD-4.0.0 6.84265E-06
29428 94 P/S 126 None 0.5206 None gnomAD-4.0.0 3.1833E-06
29429 95 I/V 127 rs373738818 0.2596 None gnomAD-2.1.1 5.72E-05
29429 95 I/V 127 rs373738818 0.2596 None gnomAD-3.1.2 8.54E-05
29429 95 I/V 127 rs373738818 0.2596 None gnomAD-4.0.0 1.23326E-04
29430 96 T/I 129 rs1224484023 0.4670 None gnomAD-2.1.1 4.03E-06
29430 96 T/P 129 None 0.4670 None gnomAD-4.0.0 2.40064E-06
29431 97 C/R 130 rs1701716122 0.3458 None gnomAD-4.0.0 3.42159E-06
29432 98 I/V 131 rs775025065 0.9482 None gnomAD-2.1.1 4.03E-06
29432 98 I/V 131 rs775025065 0.9482 None gnomAD-3.1.2 6.57E-06
29432 98 I/V 131 rs775025065 0.9482 None gnomAD-4.0.0 5.57805E-05
29433 99 D/H 132 rs189202799 1.1338 None gnomAD-2.1.1 4.03E-06
29433 99 D/H 132 rs189202799 1.1338 None gnomAD-4.0.0 6.84408E-07
29433 99 D/N 132 rs189202799 1.1338 None gnomAD-2.1.1 4.50763E-04
29433 99 D/N 132 rs189202799 1.1338 None gnomAD-3.1.2 1.39347E-03
29433 99 D/N 132 rs189202799 1.1338 None 1000 genomes 1.19808E-03
29433 99 D/N 132 rs189202799 1.1338 None gnomAD-4.0.0 2.70861E-04