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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33392 1 K/R 1 rs1363009157 0.6228 None gnomAD-2.1.1 3.19E-05
33392 1 K/R 1 rs1363009157 0.6228 None gnomAD-3.1.2 6.57E-06
33392 1 K/R 1 rs1363009157 0.6228 None gnomAD-4.0.0 6.56927E-06
33393 2 P/L 2 rs1339535549 0.1284 None gnomAD-3.1.2 6.57E-06
33393 2 P/L 2 rs1339535549 0.1284 None gnomAD-4.0.0 6.57367E-06
33393 2 P/S 2 None 0.1284 None gnomAD-4.0.0 1.49522E-06
33393 2 P/T 2 None 0.1284 None gnomAD-4.0.0 7.47612E-07
33394 3 G/A 3 None 0.2400 None gnomAD-4.0.0 7.46551E-07
33394 3 G/D 3 rs770179598 0.2400 None gnomAD-2.1.1 1.56E-05
33394 3 G/D 3 rs770179598 0.2400 None gnomAD-3.1.2 1.31E-05
33394 3 G/D 3 rs770179598 0.2400 None gnomAD-4.0.0 1.07262E-05
33395 4 A/P 4 rs761311859 0.3093 None gnomAD-4.0.0 2.23571E-06
33395 4 A/T 4 rs761311859 0.3093 None gnomAD-4.0.0 2.98095E-06
33397 6 G/A 6 None 0.2404 None gnomAD-4.0.0 7.44605E-07
33397 6 G/D 6 rs1356361274 0.2404 None gnomAD-3.1.2 6.57E-06
33397 6 G/D 6 rs1356361274 0.2404 None gnomAD-4.0.0 1.33768E-06
33397 6 G/S 6 None 0.2404 None gnomAD-4.0.0 1.48799E-06
33398 7 K/Q 7 None 0.2941 None gnomAD-4.0.0 1.94455E-06
33399 8 P/L 9 None 0.1281 None gnomAD-4.0.0 3.90072E-06
33400 9 T/I 11 rs1034663911 0.4629 None gnomAD-4.0.0 7.37633E-07
33400 9 T/S 11 rs1034663911 0.4629 None gnomAD-2.1.1 5.91E-06
33400 9 T/S 11 rs1034663911 0.4629 None gnomAD-3.1.2 6.57E-06
33400 9 T/S 11 rs1034663911 0.4629 None gnomAD-4.0.0 1.32635E-06
33401 10 I/T 12 rs748467010 0.2321 None gnomAD-2.1.1 5.87E-06
33401 10 I/T 12 rs748467010 0.2321 None gnomAD-4.0.0 1.90502E-06
33401 10 I/V 12 rs786205294 0.2321 None gnomAD-2.1.1 5.89E-06
33401 10 I/V 12 rs786205294 0.2321 None gnomAD-4.0.0 3.81537E-06
33402 11 T/A 13 rs777018654 0.4667 None gnomAD-2.1.1 1.17E-05
33402 11 T/A 13 rs777018654 0.4667 None gnomAD-3.1.2 6.57E-06
33402 11 T/A 13 rs777018654 0.4667 None gnomAD-4.0.0 4.4247E-06
33403 12 A/T 14 None 0.1589 None gnomAD-4.0.0 7.33229E-07
33404 13 V/I 15 None 0.2303 None gnomAD-4.0.0 2.92403E-06
33405 14 T/I 16 None 0.1455 None gnomAD-4.0.0 7.28526E-07
33405 14 T/R 16 None 0.1455 None gnomAD-4.0.0 7.28526E-07
33406 15 K/T 17 None 0.5803 None gnomAD-4.0.0 1.20032E-06
33407 16 D/H 18 rs771684833 0.4025 None gnomAD-2.1.1 5.59E-06
33407 16 D/H 18 rs771684833 0.4025 None gnomAD-4.0.0 5.08812E-06
33408 17 S/C 19 rs1268223494 0.1148 None gnomAD-2.1.1 5.51E-06
33409 18 C/S 20 None 0.0977 None gnomAD-3.1.2 6.57E-06
33409 18 C/S 20 None 0.0977 None gnomAD-4.0.0 6.5703E-06
33409 18 C/Y 20 rs201112096 0.0977 None gnomAD-2.1.1 1.25694E-04
33409 18 C/Y 20 rs201112096 0.0977 None gnomAD-3.1.2 1.11695E-04
33409 18 C/Y 20 rs201112096 0.0977 None 1000 genomes 1.99681E-04
33409 18 C/Y 20 rs201112096 0.0977 None gnomAD-4.0.0 7.88803E-05
33410 19 V/A 21 None 0.1082 None gnomAD-4.0.0 1.20032E-06
33410 19 V/I 21 rs1691577355 0.1082 None gnomAD-4.0.0 1.81666E-06
33412 21 A/S 23 None 0.1266 None gnomAD-4.0.0 7.16524E-07
33412 21 A/T 23 rs778297512 0.1266 None gnomAD-2.1.1 5.13E-06
33412 21 A/T 23 rs778297512 0.1266 None gnomAD-4.0.0 7.16523E-07
33413 22 W/R 24 None 0.1147 None gnomAD-4.0.0 1.43003E-06
33415 24 P/A 26 None 0.3313 None gnomAD-4.0.0 7.10326E-07
33415 24 P/L 26 rs72648282 0.3313 ARVC
Literature None
33415 24 P/L 26 rs72648282 0.3313 None gnomAD-4.0.0 3.47766E-06
33415 24 P/S 26 None 0.3313 None gnomAD-4.0.0 7.10326E-07
33415 24 P/T 26 None 0.3313 None gnomAD-4.0.0 7.10326E-07
33416 25 P/S 27 None 0.1893 None gnomAD-4.0.0 1.73458E-06
33416 25 P/T 27 rs1691567099 0.1893 None gnomAD-3.1.2 6.57E-06
33417 26 A/S 28 None 0.9269 None gnomAD-4.0.0 1.72826E-06
33417 26 A/V 28 None 0.9269 None gnomAD-4.0.0 7.07895E-07
33418 27 S/G 29 rs1167149103 0.4715 None gnomAD-4.0.0 1.72325E-06
33418 27 S/T 29 None 0.4715 None gnomAD-4.0.0 7.06109E-07
33420 29 G/E 31 None 0.3795 None gnomAD-4.0.0 7.03873E-07
33421 30 G/D 32 None 0.6463 None gnomAD-4.0.0 7.01735E-07
33421 30 G/V 32 None 0.6463 None gnomAD-4.0.0 7.01734E-06
33422 31 A/E 33 rs1191954484 0.2156 None gnomAD-2.1.1 4.46E-06
33422 31 A/E 33 rs1191954484 0.2156 None gnomAD-4.0.0 1.6743E-06
33422 31 A/T 33 rs1419201312 0.2156 None gnomAD-2.1.1 4.56E-06
33422 31 A/T 33 rs1419201312 0.2156 None gnomAD-4.0.0 7.01749E-07
33423 32 K/E 34 rs376528148 0.5427 None gnomAD-2.1.1 5.05E-05
33423 32 K/E 34 rs376528148 0.5427 None gnomAD-3.1.2 1.44545E-04
33423 32 K/E 34 rs376528148 0.5427 None gnomAD-4.0.0 2.20891E-05
33423 32 K/N 34 None 0.5427 None gnomAD-4.0.0 1.66616E-06
33424 33 I/F 35 rs1264517895 0.1713 None gnomAD-2.1.1 4.41E-06
33424 33 I/F 35 rs1264517895 0.1713 None gnomAD-4.0.0 5.58079E-06
33425 34 R/I 36 None 0.4649 None gnomAD-4.0.0 6.93947E-07
33425 34 R/S 36 None 0.4649 None gnomAD-4.0.0 1.6409E-06
33425 34 R/T 36 None 0.4649 None gnomAD-4.0.0 6.93946E-07
33427 36 Y/F 38 rs755215899 0.1173 None gnomAD-2.1.1 1.26E-05
33427 36 Y/F 38 rs755215899 0.1173 None gnomAD-3.1.2 6.57E-06
33427 36 Y/F 38 rs755215899 0.1173 None gnomAD-4.0.0 2.87358E-05
33428 37 Y/H 39 rs766455406 0.3204 None gnomAD-2.1.1 3.18E-05
33428 37 Y/N 39 rs766455406 0.3204 None gnomAD-2.1.1 4.2E-06
33428 37 Y/N 39 rs766455406 0.3204 None gnomAD-3.1.2 6.57E-06
33428 37 Y/N 39 rs766455406 0.3204 None gnomAD-4.0.0 1.31106E-05
33429 38 L/P 40 rs762983936 0.1009 None gnomAD-2.1.1 4.14E-06
33430 39 E/G 41 rs1451693700 0.1125 None gnomAD-2.1.1 3.18E-05
33430 39 E/G 41 rs1451693700 0.1125 None gnomAD-3.1.2 6.57E-06
33430 39 E/G 41 rs1451693700 0.1125 None gnomAD-4.0.0 6.56866E-06
33430 39 E/K 41 None 0.1125 None gnomAD-4.0.0 6.87785E-07
33430 39 E/Q 41 rs1306593983 0.1125 None gnomAD-2.1.1 8.23E-06
33430 39 E/Q 41 rs1306593983 0.1125 None gnomAD-4.0.0 6.87785E-06
33431 40 K/M 42 rs369597353 0.1952 None gnomAD-2.1.1 4.09E-06
33431 40 K/M 42 rs369597353 0.1952 None gnomAD-4.0.0 1.60731E-06
33431 40 K/R 42 rs369597353 0.1952 None gnomAD-2.1.1 8.18E-06
33431 40 K/R 42 rs369597353 0.1952 None gnomAD-3.1.2 1.97E-05
33432 41 R/C 43 rs878882035 0.1954 None gnomAD-4.0.0 3.20381E-06
33432 41 R/G 43 None 0.1954 None gnomAD-4.0.0 1.60191E-06
33432 41 R/H 43 rs374876608 0.1954 None gnomAD-2.1.1 5.76E-05
33432 41 R/H 43 rs374876608 0.1954 None gnomAD-3.1.2 1.70814E-04
33432 41 R/H 43 rs374876608 0.1954 None gnomAD-4.0.0 5.65062E-05
33433 42 E/D 44 rs879015914 0.2146 None gnomAD-2.1.1 2.03E-05
33433 42 E/D 44 rs879015914 0.2146 None gnomAD-3.1.2 5.26E-05
33433 42 E/D 44 rs879015914 0.2146 None gnomAD-4.0.0 7.4495E-06
33435 44 K/Q 54 rs773848816 0.9025 None gnomAD-2.1.1 2.15E-05
33435 44 K/Q 54 rs773848816 0.9025 None gnomAD-3.1.2 1.97E-05
33435 44 K/Q 54 rs773848816 0.9025 None gnomAD-4.0.0 1.79904E-05
33435 44 K/T 54 rs1311083435 0.9025 None gnomAD-3.1.2 6.57E-06
33435 44 K/T 54 rs1311083435 0.9025 None gnomAD-4.0.0 6.56892E-06
33436 45 Q/H 60 rs1403079521 0.5105 None gnomAD-2.1.1 4.03E-06
33436 45 Q/H 60 rs1403079521 0.5105 None gnomAD-3.1.2 6.57E-06
33436 45 Q/H 60 rs1403079521 0.5105 None gnomAD-4.0.0 3.72126E-06
33436 45 Q/K 60 None 0.5105 None gnomAD-4.0.0 6.84918E-07
33437 46 N/S 63 rs1691532335 1.0889 None gnomAD-3.1.2 6.57E-06
33437 46 N/S 63 rs1691532335 1.0889 None gnomAD-4.0.0 8.98166E-06
33439 48 W/R 65 rs545443009 0.2111 None gnomAD-2.1.1 5.64E-05
33439 48 W/R 65 rs545443009 0.2111 None gnomAD-3.1.2 6.57E-06
33439 48 W/R 65 rs545443009 0.2111 None 1000 genomes 1.99681E-04
33439 48 W/R 65 rs545443009 0.2111 None gnomAD-4.0.0 1.92183E-05
33441 50 S/T 67 rs759113549 0.3541 None gnomAD-2.1.1 8.05E-06
33441 50 S/T 67 rs759113549 0.3541 None gnomAD-4.0.0 3.18476E-06
33442 51 V/M 68 rs1691526659 0.2036 None gnomAD-4.0.0 1.20032E-06
33443 52 T/K 69 None 0.2506 None gnomAD-4.0.0 1.59213E-06
33443 52 T/R 69 None 0.2506 None gnomAD-4.0.0 1.59213E-06
33444 53 T/I 70 None 1.0020 None gnomAD-4.0.0 6.84354E-07
33444 53 T/K 70 None 1.0020 None gnomAD-4.0.0 2.05306E-06
33445 54 E/K 72 rs774013465 0.7972 None gnomAD-2.1.1 4.03E-06
33445 54 E/K 72 rs774013465 0.7972 None gnomAD-3.1.2 1.97E-05
33445 54 E/K 72 rs774013465 0.7972 None gnomAD-4.0.0 8.05659E-06
33448 57 R/P 83 rs1315622743 0.6329 None gnomAD-4.0.0 2.7372E-06
33448 57 R/Q 83 rs1315622743 0.6329 None gnomAD-4.0.0 9.58021E-06
33449 58 E/A 88 rs1218969890 0.2962 None gnomAD-2.1.1 3.18E-05
33449 58 E/A 88 rs1218969890 0.2962 None gnomAD-3.1.2 6.57E-06
33449 58 E/A 88 rs1218969890 0.2962 None gnomAD-4.0.0 3.71835E-06
33449 58 E/Q 88 None 0.2962 None gnomAD-4.0.0 1.20032E-06
33450 59 T/N 89 rs1691516796 0.1023 None gnomAD-4.0.0 1.36857E-06
33451 60 V/A 90 rs1467511236 0.1823 None gnomAD-2.1.1 4.02E-06
33451 60 V/L 90 rs2154137428 0.1823 None gnomAD-3.1.2 6.57E-06
33451 60 V/L 90 rs2154137428 0.1823 None gnomAD-4.0.0 6.56564E-06
33452 61 F/S 91 rs1450640139 0.2329 None gnomAD-2.1.1 3.18E-05
33452 61 F/S 91 rs1450640139 0.2329 None gnomAD-3.1.2 6.57E-06
33452 61 F/S 91 rs1450640139 0.2329 None gnomAD-4.0.0 6.57022E-06
33456 65 N/S 96 None 0.8657 None gnomAD-4.0.0 1.20032E-06
33456 65 N/Y 96 None 0.8657 None gnomAD-4.0.0 1.59152E-06
33458 67 I/T 98 rs72648283 0.5705 None gnomAD-2.1.1 1.21E-05
33458 67 I/T 98 rs72648283 0.5705 None gnomAD-3.1.2 6.57E-06
33458 67 I/T 98 rs72648283 0.5705 None gnomAD-4.0.0 8.67593E-06
33458 67 I/V 98 rs2154137413 0.5705 None gnomAD-4.0.0 1.5915E-06
33460 69 G/D 100 rs1691502761 0.4173 None gnomAD-4.0.0 1.59153E-06
33460 69 G/S 100 rs1177814135 0.4173 None gnomAD-4.0.0 3.18305E-06
33462 71 E/A 103 None 0.3292 None gnomAD-4.0.0 1.5915E-06
33462 71 E/K 103 rs748104690 0.3292 None gnomAD-2.1.1 3.22E-05
33462 71 E/K 103 rs748104690 0.3292 None gnomAD-3.1.2 3.94E-05
33462 71 E/K 103 rs748104690 0.3292 None gnomAD-4.0.0 1.61127E-05
33463 72 Y/C 104 rs780864416 0.1279 None gnomAD-2.1.1 4.02E-06
33463 72 Y/C 104 rs780864416 0.1279 None gnomAD-3.1.2 6.57E-06
33463 72 Y/C 104 rs780864416 0.1279 None gnomAD-4.0.0 3.84337E-06
33464 73 E/A 105 rs1480074410 0.1383 None gnomAD-2.1.1 4.02E-06
33464 73 E/A 105 rs1480074410 0.1383 None gnomAD-4.0.0 3.18292E-06
33464 73 E/K 105 None 0.1383 None gnomAD-2.1.1 7.14E-06
33464 73 E/K 105 None 0.1383 None gnomAD-3.1.2 2.63E-05
33464 73 E/K 105 None 0.1383 None gnomAD-4.0.0 7.43661E-06
33464 73 E/Q 105 rs374920916 0.1383 None gnomAD-4.0.0 6.84263E-07
33465 74 F/L 106 rs1691494185 0.1261 None gnomAD-3.1.2 6.57E-06
33465 74 F/L 106 rs1691494185 0.1261 None gnomAD-4.0.0 6.57194E-06
33466 75 R/C 107 rs371908649 0.1042 None gnomAD-2.1.1 1.42913E-04
33466 75 R/C 107 rs371908649 0.1042 None gnomAD-3.1.2 7.89E-05
33466 75 R/C 107 rs371908649 0.1042 None 1000 genomes 1.99681E-04
33466 75 R/C 107 rs371908649 0.1042 None gnomAD-4.0.0 3.28441E-05
33466 75 R/H 107 None 0.1042 None gnomAD-2.1.1 6.79E-05
33466 75 R/H 107 None 0.1042 None gnomAD-3.1.2 1.97148E-04
33466 75 R/H 107 None 0.1042 None 1000 genomes 5.99042E-04
33466 75 R/H 107 None 0.1042 None gnomAD-4.0.0 7.12636E-05
33466 75 R/L 107 rs189626540 0.1042 None gnomAD-2.1.1 1.43E-05
33466 75 R/L 107 rs189626540 0.1042 None gnomAD-3.1.2 1.97E-05
33466 75 R/L 107 rs189626540 0.1042 None gnomAD-4.0.0 4.3381E-06
33466 75 R/P 107 rs189626540 0.1042 None gnomAD-2.1.1 4.02E-06
33466 75 R/P 107 rs189626540 0.1042 None gnomAD-4.0.0 6.84257E-07
33467 76 V/G 108 rs200166942 0.0616 None gnomAD-2.1.1 3.07187E-04
33467 76 V/G 108 rs200166942 0.0616 None gnomAD-3.1.2 4.40129E-04
33467 76 V/G 108 rs200166942 0.0616 None 1000 genomes 7.98722E-04
33467 76 V/G 108 rs200166942 0.0616 None gnomAD-4.0.0 5.33519E-04
33467 76 V/L 108 None 0.0616 None gnomAD-4.0.0 1.5915E-06
33468 77 K/N 109 rs879250663 0.1018 None gnomAD-3.1.2 6.57E-06
33468 77 K/N 109 rs879250663 0.1018 None gnomAD-4.0.0 6.5697E-06
33469 78 C/W 110 rs979276403 0.0690 None gnomAD-3.1.2 6.57E-06
33469 78 C/W 110 rs979276403 0.0690 None gnomAD-4.0.0 2.56226E-06
33470 79 E/D 111 None 0.1948 None gnomAD-4.0.0 1.20032E-06
33470 79 E/K 111 None 0.1948 None gnomAD-4.0.0 2.40064E-06
33471 80 N/D 112 rs1313883855 0.1144 None gnomAD-4.0.0 3.18308E-06
33471 80 N/Y 112 rs1313883855 0.1144 None gnomAD-2.1.1 4.02E-06
33471 80 N/Y 112 rs1313883855 0.1144 None gnomAD-4.0.0 1.59154E-06
33472 81 L/R 113 None 0.8246 None gnomAD-4.0.0 1.59154E-06
33473 82 G/A 114 rs1387409572 0.4661 None gnomAD-2.1.1 4.02E-06
33473 82 G/A 114 rs1387409572 0.4661 None gnomAD-4.0.0 1.59158E-06
33473 82 G/S 114 rs397517783 0.4661 None gnomAD-2.1.1 4.64E-05
33473 82 G/S 114 rs397517783 0.4661 None gnomAD-3.1.2 1.11707E-04
33473 82 G/S 114 rs397517783 0.4661 None gnomAD-4.0.0 3.78037E-05
33474 83 G/R 115 rs1221430009 0.1965 None gnomAD-3.1.2 6.57E-06
33474 83 G/R 115 rs1221430009 0.1965 None gnomAD-4.0.0 6.57056E-06
33475 84 E/K 117 rs377287413 0.4151 None gnomAD-2.1.1 1.21E-05
33475 84 E/K 117 rs377287413 0.4151 None gnomAD-3.1.2 2.63E-05
33475 84 E/K 117 rs377287413 0.4151 None 1000 genomes 1.99681E-04
33475 84 E/K 117 rs377287413 0.4151 None gnomAD-4.0.0 9.91537E-06
33477 86 E/Q 119 rs794729556 0.7000 None gnomAD-3.1.2 6.57E-06
33477 86 E/Q 119 rs794729556 0.7000 None gnomAD-4.0.0 6.57022E-06
33478 87 W/C 120 rs1449345093 0.2968 None gnomAD-2.1.1 4.02E-06
33478 87 W/G 120 rs372304158 0.2968 None gnomAD-2.1.1 1.92912E-04
33478 87 W/G 120 rs372304158 0.2968 None gnomAD-3.1.2 1.70819E-04
33478 87 W/G 120 rs372304158 0.2968 None gnomAD-4.0.0 3.0367E-04
33479 88 S/R 121 rs775974075 0.1393 None gnomAD-2.1.1 8.05E-06
33479 88 S/R 121 rs775974075 0.1393 None gnomAD-4.0.0 1.59171E-06
33481 90 I/M 123 None 0.3304 None gnomAD-4.0.0 1.59165E-06
33481 90 I/T 123 rs1464925577 0.3304 None gnomAD-2.1.1 4.02E-06
33481 90 I/T 123 rs1464925577 0.3304 None gnomAD-4.0.0 1.59165E-06
33483 92 E/D 125 rs762690616 0.5703 None gnomAD-2.1.1 1.61E-05
33483 92 E/D 125 rs762690616 0.5703 None gnomAD-4.0.0 1.84754E-05
33483 92 E/K 125 rs368321767 0.5703 None gnomAD-3.1.2 6.57E-06
33483 92 E/K 125 rs368321767 0.5703 None gnomAD-4.0.0 6.57117E-06
33483 92 E/Q 125 rs368321767 0.5703 None gnomAD-2.1.1 1.92966E-04
33483 92 E/Q 125 rs368321767 0.5703 None gnomAD-3.1.2 1.7085E-04
33483 92 E/Q 125 rs368321767 0.5703 None gnomAD-4.0.0 3.03677E-04
33484 93 P/A 126 None 0.3522 None gnomAD-4.0.0 1.59167E-06
33484 93 P/R 126 rs1235877834 0.3522 None gnomAD-2.1.1 1.07E-05
33484 93 P/R 126 rs1235877834 0.3522 None gnomAD-3.1.2 2.63E-05
33484 93 P/R 126 rs1235877834 0.3522 None gnomAD-4.0.0 7.68852E-06
33484 93 P/S 126 rs772916996 0.3522 None gnomAD-2.1.1 4.02E-06
33484 93 P/S 126 rs772916996 0.3522 None gnomAD-3.1.2 1.31E-05
33484 93 P/S 126 rs772916996 0.3522 None gnomAD-4.0.0 3.84421E-06
33484 93 P/T 126 rs772916996 0.3522 None gnomAD-3.1.2 6.57E-06
33484 93 P/T 126 rs772916996 0.3522 None gnomAD-4.0.0 6.57358E-06
33485 94 I/T 127 rs369247146 0.2587 None gnomAD-2.1.1 4.02E-06
33485 94 I/T 127 rs369247146 0.2587 None gnomAD-4.0.0 1.59164E-06
33485 94 I/V 127 rs2154137339 0.2587 None gnomAD-4.0.0 1.59157E-06
33486 95 T/A 129 rs1457955495 0.3205 None gnomAD-2.1.1 4.02E-06
33486 95 T/A 129 rs1457955495 0.3205 None gnomAD-4.0.0 4.77497E-06
33486 95 T/I 129 rs1024625225 0.3205 None gnomAD-3.1.2 1.31E-05
33486 95 T/I 129 rs1024625225 0.3205 None gnomAD-4.0.0 1.85922E-06
33486 95 T/P 129 None 0.3205 None gnomAD-4.0.0 1.59166E-06
33486 95 T/S 129 None 0.3205 None gnomAD-4.0.0 6.84277E-07
33487 96 P/S 130 rs72629779 0.1056 None gnomAD-2.1.1 3.74817E-03
33487 96 P/S 130 rs72629779 0.1056 None gnomAD-3.1.2 1.12065E-02
33487 96 P/S 130 rs72629779 0.1056 None 1000 genomes 1.3778E-02
33487 96 P/S 130 rs72629779 0.1056 None gnomAD-4.0.0 2.0934E-03
33488 97 K/R 131 rs1415630189 0.7070 None gnomAD-4.0.0 2.40064E-06
33489 98 S/A 132 None 0.3546 None gnomAD-4.0.0 1.59163E-06
33489 98 S/C 132 None 0.3546 None gnomAD-4.0.0 4.80129E-06