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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
29533 1 K/N 1 None 0.4793 None gnomAD-4.0.0 2.40064E-06
29534 2 P/L 2 rs760009798 0.1272 None gnomAD-2.1.1 4.03E-06
29534 2 P/L 2 rs760009798 0.1272 None gnomAD-4.0.0 1.36875E-06
29534 2 P/S 2 None 0.1272 None gnomAD-4.0.0 4.10614E-06
29536 4 P/L 4 rs928055260 0.4551 None gnomAD-4.0.0 1.59177E-06
29537 5 P/R 5 rs1482625198 0.1278 None gnomAD-2.1.1 4.02E-06
29538 6 G/A 6 rs1206917206 0.1898 None gnomAD-2.1.1 4.02E-06
29538 6 G/C 6 None 0.1898 None gnomAD-4.0.0 1.59139E-06
29538 6 G/S 6 None 0.1898 None gnomAD-4.0.0 3.18279E-06
29540 8 P/L 8 None 0.6821 None gnomAD-4.0.0 4.78947E-06
29540 8 P/R 8 rs747863143 0.6821 None gnomAD-2.1.1 4.02E-06
29540 8 P/R 8 rs747863143 0.6821 None gnomAD-4.0.0 3.42105E-06
29540 8 P/T 8 rs1342421251 0.6821 None gnomAD-2.1.1 1.07E-05
29540 8 P/T 8 rs1342421251 0.6821 None gnomAD-3.1.2 6.58E-06
29540 8 P/T 8 rs1342421251 0.6821 None gnomAD-4.0.0 4.95782E-06
29541 9 I/T 9 rs768292510 0.1405 None gnomAD-2.1.1 2.14E-05
29541 9 I/T 9 rs768292510 0.1405 None gnomAD-3.1.2 5.26E-05
29541 9 I/T 9 rs768292510 0.1405 None gnomAD-4.0.0 3.34625E-05
29541 9 I/V 9 rs780639603 0.1405 None gnomAD-2.1.1 8.04E-06
29541 9 I/V 9 rs780639603 0.1405 None gnomAD-3.1.2 3.29E-05
29541 9 I/V 9 rs780639603 0.1405 None gnomAD-4.0.0 1.40892E-05
29542 10 E/K 11 None 0.5737 None gnomAD-4.0.0 1.20032E-06
29543 11 F/S 12 rs948542254 0.3121 None gnomAD-3.1.2 1.31E-05
29543 11 F/S 12 rs948542254 0.3121 None gnomAD-4.0.0 3.71806E-06
29544 12 K/R 13 None 0.7068 None gnomAD-4.0.0 1.20032E-06
29545 13 T/I 14 rs1302609593 0.3660 None gnomAD-2.1.1 4.02E-06
29545 13 T/I 14 rs1302609593 0.3660 None gnomAD-3.1.2 6.57E-06
29545 13 T/I 14 rs1302609593 0.3660 None gnomAD-4.0.0 2.56187E-06
29546 14 V/I 15 rs758393823 0.2686 None gnomAD-2.1.1 4.02E-06
29546 14 V/I 15 rs758393823 0.2686 None gnomAD-4.0.0 7.52593E-06
29549 17 E/G 18 rs779704459 0.7911 None gnomAD-2.1.1 1.07E-05
29549 17 E/G 18 rs779704459 0.7911 None gnomAD-3.1.2 1.97E-05
29549 17 E/G 18 rs779704459 0.7911 None gnomAD-4.0.0 6.19665E-06
29549 17 E/K 18 None 0.7911 None gnomAD-4.0.0 3.42089E-06
29550 18 K/M 19 rs750362797 0.5008 None gnomAD-2.1.1 4.02E-06
29550 18 K/M 19 rs750362797 0.5008 None gnomAD-3.1.2 6.57E-06
29550 18 K/M 19 rs750362797 0.5008 None gnomAD-4.0.0 1.85893E-06
29550 18 K/N 19 rs778800874 0.5008 None gnomAD-2.1.1 4.02E-06
29550 18 K/N 19 rs778800874 0.5008 None gnomAD-4.0.0 1.36834E-06
29551 19 I/T 20 None 0.0961 None gnomAD-4.0.0 2.73664E-06
29552 20 T/A 21 None 0.1528 None gnomAD-4.0.0 1.591E-06
29552 20 T/I 21 rs756935787 0.1528 None gnomAD-3.1.2 6.57E-06
29552 20 T/I 21 rs756935787 0.1528 None gnomAD-4.0.0 1.23922E-06
29552 20 T/N 21 None 0.1528 None gnomAD-4.0.0 6.8416E-07
29552 20 T/S 21 rs756935787 0.1528 None gnomAD-2.1.1 1.21E-05
29552 20 T/S 21 rs756935787 0.1528 None gnomAD-4.0.0 4.78912E-06
29555 23 W/S 24 None 0.1292 None gnomAD-4.0.0 1.20032E-06
29556 24 R/G 25 None 0.5740 None gnomAD-4.0.0 6.8417E-07
29556 24 R/P 25 rs1207034709 0.5740 None gnomAD-4.0.0 6.84164E-07
29556 24 R/Q 25 None 0.5740 None gnomAD-2.1.1 4.02E-06
29556 24 R/Q 25 None 0.5740 None gnomAD-3.1.2 6.57E-06
29556 24 R/Q 25 None 0.5740 None gnomAD-4.0.0 1.05342E-05
29556 24 R/W 25 rs201657835 0.5740 None gnomAD-2.1.1 2.5E-05
29556 24 R/W 25 rs201657835 0.5740 None gnomAD-3.1.2 3.94E-05
29556 24 R/W 25 rs201657835 0.5740 None gnomAD-4.0.0 1.36327E-05
29557 25 P/H 26 None 0.5057 None gnomAD-4.0.0 1.591E-06
29558 26 P/L 27 rs1438123245 0.2017 None gnomAD-2.1.1 7.14E-06
29558 26 P/L 27 rs1438123245 0.2017 None gnomAD-3.1.2 1.31E-05
29558 26 P/L 27 rs1438123245 0.2017 None gnomAD-4.0.0 3.84273E-06
29559 27 A/P 28 rs748038054 0.9081 None gnomAD-2.1.1 7.14E-06
29559 27 A/P 28 rs748038054 0.9081 None gnomAD-3.1.2 6.57E-06
29559 27 A/P 28 rs748038054 0.9081 None gnomAD-4.0.0 1.67303E-05
29559 27 A/T 28 rs748038054 0.9081 None gnomAD-4.0.0 3.42081E-06
29560 28 D/A 29 None 0.6244 None gnomAD-4.0.0 1.36832E-06
29561 29 D/H 30 rs1700645237 0.2580 None gnomAD-4.0.0 2.40064E-06
29562 30 G/D 31 rs72648235 0.3199 None gnomAD-2.1.1 2.0351E-04
29562 30 G/D 31 rs72648235 0.3199 None gnomAD-3.1.2 1.3142E-04
29562 30 G/D 31 rs72648235 0.3199 None gnomAD-4.0.0 1.64826E-04
29562 30 G/S 31 rs760886476 0.3199 None gnomAD-2.1.1 8.04E-06
29562 30 G/S 31 rs760886476 0.3199 None gnomAD-4.0.0 1.59104E-05
29563 31 G/D 32 rs1335432771 0.5877 None gnomAD-3.1.2 6.57E-06
29563 31 G/D 32 rs1335432771 0.5877 None gnomAD-4.0.0 1.859E-06
29564 32 A/G 33 None 0.1973 None gnomAD-4.0.0 1.59109E-06
29564 32 A/P 33 None 0.1973 None gnomAD-4.0.0 1.59108E-06
29565 33 K/T 34 rs1263180064 0.8092 None gnomAD-2.1.1 4.02E-06
29565 33 K/T 34 rs1263180064 0.8092 None gnomAD-4.0.0 4.77307E-06
29566 34 I/L 35 rs1700639038 0.1662 None gnomAD-3.1.2 6.57E-06
29566 34 I/L 35 rs1700639038 0.1662 None gnomAD-4.0.0 3.09829E-06
29566 34 I/V 35 None 0.1662 None gnomAD-4.0.0 6.84167E-07
29567 35 T/N 36 None 0.3468 None gnomAD-4.0.0 1.20032E-06
29568 36 H/D 37 None 0.1587 None gnomAD-4.0.0 1.59104E-06
29568 36 H/P 37 None 0.1587 None gnomAD-4.0.0 1.20032E-06
29568 36 H/Q 37 rs370093328 0.1587 None gnomAD-2.1.1 4.02E-06
29569 37 Y/C 38 None 0.1202 None gnomAD-4.0.0 1.20032E-06
29569 37 Y/F 38 None 0.1202 None gnomAD-4.0.0 1.20032E-06
29569 37 Y/N 38 rs199821241 0.1202 None gnomAD-2.1.1 2.01E-05
29569 37 Y/N 38 rs199821241 0.1202 None gnomAD-3.1.2 6.57E-06
29569 37 Y/N 38 rs199821241 0.1202 None gnomAD-4.0.0 1.54913E-05
29570 38 I/L 39 rs139506970 0.2173 None gnomAD-3.1.2 1.31E-05
29570 38 I/L 39 rs139506970 0.2173 None gnomAD-4.0.0 1.85903E-06
29570 38 I/T 39 rs965795447 0.2173 None gnomAD-2.1.1 6.37E-05
29570 38 I/T 39 rs965795447 0.2173 None gnomAD-3.1.2 1.97E-05
29570 38 I/T 39 rs965795447 0.2173 None gnomAD-4.0.0 4.06004E-06
29570 38 I/V 39 rs139506970 0.2173 None gnomAD-2.1.1 8.24753E-04
29570 38 I/V 39 rs139506970 0.2173 None gnomAD-3.1.2 2.43258E-03
29570 38 I/V 39 rs139506970 0.2173 None 1000 genomes 3.39457E-03
29570 38 I/V 39 rs139506970 0.2173 None gnomAD-4.0.0 5.00663E-04
29571 39 V/L 40 None 0.1003 None gnomAD-4.0.0 1.20032E-06
29571 39 V/M 40 rs1244032310 0.1003 None gnomAD-2.1.1 3.18E-05
29571 39 V/M 40 rs1244032310 0.1003 None gnomAD-3.1.2 6.57E-06
29571 39 V/M 40 rs1244032310 0.1003 None gnomAD-4.0.0 6.57289E-06
29572 40 E/D 41 rs982929672 0.1336 None gnomAD-3.1.2 6.57E-06
29572 40 E/D 41 rs982929672 0.1336 None gnomAD-4.0.0 2.56181E-06
29573 41 K/N 42 rs951559577 0.1801 None gnomAD-2.1.1 4.02E-06
29573 41 K/N 42 rs951559577 0.1801 None gnomAD-3.1.2 6.57E-06
29573 41 K/N 42 rs951559577 0.1801 None gnomAD-4.0.0 1.59101E-06
29573 41 K/T 42 rs1332479278 0.1801 None gnomAD-2.1.1 4.02E-06
29573 41 K/T 42 rs1332479278 0.1801 None gnomAD-3.1.2 6.57E-06
29573 41 K/T 42 rs1332479278 0.1801 None gnomAD-4.0.0 1.85903E-06
29574 42 R/C 43 rs200513274 0.2160 None gnomAD-2.1.1 2.60645E-04
29574 42 R/C 43 rs200513274 0.2160 None gnomAD-3.1.2 2.89283E-04
29574 42 R/C 43 rs200513274 0.2160 None 1000 genomes 1.99681E-04
29574 42 R/C 43 rs200513274 0.2160 None gnomAD-4.0.0 4.75884E-04
29574 42 R/G 43 rs200513274 0.2160 None gnomAD-2.1.1 4.02E-06
29574 42 R/G 43 rs200513274 0.2160 None gnomAD-4.0.0 2.05251E-06
29574 42 R/H 43 rs111727915 0.2160 None gnomAD-2.1.1 5.3912E-04
29574 42 R/H 43 rs111727915 0.2160 None gnomAD-3.1.2 8.74057E-04
29574 42 R/H 43 rs111727915 0.2160 None 1000 genomes 9.98403E-04
29574 42 R/H 43 rs111727915 0.2160 None gnomAD-4.0.0 3.14762E-04
29576 44 T/R 50 rs1700623048 0.3363 None gnomAD-3.1.2 6.57E-06
29576 44 T/R 50 rs1700623048 0.3363 None gnomAD-4.0.0 6.5735E-06
29577 45 S/C 54 rs1559230996 0.6011 None gnomAD-4.0.0 4.77307E-06
29577 45 S/N 54 None 0.6011 None gnomAD-4.0.0 1.59103E-06
29577 45 S/R 54 None 0.6011 None gnomAD-4.0.0 6.84167E-07
29578 46 R/C 60 rs539906386 0.4815 None gnomAD-2.1.1 4.02E-06
29578 46 R/C 60 rs539906386 0.4815 None gnomAD-3.1.2 6.58E-06
29578 46 R/C 60 rs539906386 0.4815 None 1000 genomes 1.99681E-04
29578 46 R/C 60 rs539906386 0.4815 None gnomAD-4.0.0 3.09824E-06
29578 46 R/H 60 rs374147064 0.4815 None gnomAD-2.1.1 1.3924E-04
29578 46 R/H 60 rs374147064 0.4815 None gnomAD-3.1.2 3.08946E-04
29578 46 R/H 60 rs374147064 0.4815 None 1000 genomes 1.39776E-03
29578 46 R/H 60 rs374147064 0.4815 None gnomAD-4.0.0 6.75395E-05
29579 47 V/A 63 rs777595903 0.9392 None gnomAD-2.1.1 4.02E-06
29579 47 V/A 63 rs777595903 0.9392 None gnomAD-3.1.2 6.58E-06
29579 47 V/A 63 rs777595903 0.9392 None gnomAD-4.0.0 2.56215E-06
29579 47 V/D 63 None 0.9392 None gnomAD-4.0.0 1.59102E-06
29579 47 V/F 63 rs879204059 0.9392 None gnomAD-3.1.2 6.57E-06
29579 47 V/F 63 rs879204059 0.9392 None gnomAD-4.0.0 6.57315E-06
29579 47 V/I 63 rs879204059 0.9392 None gnomAD-3.1.2 6.57E-06
29579 47 V/I 63 rs879204059 0.9392 None gnomAD-4.0.0 9.91472E-06
29580 48 V/L 64 rs371096025 0.6987 None gnomAD-2.1.1 4.02E-06
29580 48 V/L 64 rs371096025 0.6987 None gnomAD-4.0.0 1.59102E-06
29580 48 V/M 64 None 0.6987 None gnomAD-2.1.1 4.02E-06
29581 49 W/C 65 None 0.2606 None gnomAD-4.0.0 3.18202E-06
29582 50 S/C 66 None 0.3761 None gnomAD-4.0.0 1.59102E-06
29583 51 M/I 67 rs1224789093 0.2897 None gnomAD-2.1.1 4.02E-06
29583 51 M/I 67 rs1224789093 0.2897 None gnomAD-4.0.0 1.59102E-06
29583 51 M/T 67 None 0.2897 None gnomAD-4.0.0 1.591E-06
29583 51 M/V 67 rs377535587 0.2897 None gnomAD-2.1.1 2.01E-05
29583 51 M/V 67 rs377535587 0.2897 None gnomAD-3.1.2 3.94E-05
29583 51 M/V 67 rs377535587 0.2897 None 1000 genomes 5.99042E-04
29583 51 M/V 67 rs377535587 0.2897 None gnomAD-4.0.0 6.81562E-06
29584 52 V/A 68 rs1356142891 0.2646 None gnomAD-2.1.1 4.02E-06
29584 52 V/A 68 rs1356142891 0.2646 None gnomAD-4.0.0 3.18202E-06
29585 53 S/F 69 rs752117968 0.1938 None gnomAD-2.1.1 8.04E-06
29585 53 S/F 69 rs752117968 0.1938 None gnomAD-4.0.0 1.59105E-06
29585 53 S/P 69 None 0.1938 None gnomAD-4.0.0 1.20032E-06
29585 53 S/T 69 None 0.1938 None gnomAD-4.0.0 2.40064E-06
29585 53 S/Y 69 None 0.1938 None gnomAD-4.0.0 1.59105E-06
29586 54 E/K 70 None 0.6791 None gnomAD-4.0.0 1.20032E-06
29587 55 H/L 75 None 0.5551 None gnomAD-4.0.0 6.84167E-07
29587 55 H/R 75 rs373905959 0.5551 None gnomAD-2.1.1 1.21E-05
29587 55 H/R 75 rs373905959 0.5551 None gnomAD-3.1.2 6.57E-06
29587 55 H/R 75 rs373905959 0.5551 None gnomAD-4.0.0 3.09828E-06
29587 55 H/Y 75 None 0.5551 None gnomAD-4.0.0 1.59102E-06
29588 56 L/S 77 rs551991700 0.1532 None gnomAD-4.0.0 3.09807E-06
29588 56 L/V 77 rs534126040 0.1532 None gnomAD-2.1.1 1.20593E-04
29588 56 L/V 77 rs534126040 0.1532 None gnomAD-3.1.2 2.63E-05
29588 56 L/V 77 rs534126040 0.1532 None 1000 genomes 1.99681E-04
29588 56 L/V 77 rs534126040 0.1532 None gnomAD-4.0.0 5.94849E-05
29589 57 E/K 83 rs773486662 0.8095 None gnomAD-2.1.1 4.02E-06
29589 57 E/K 83 rs773486662 0.8095 None gnomAD-4.0.0 2.0525E-06
29589 57 E/Q 83 rs773486662 0.8095 None gnomAD-2.1.1 4.02E-06
29589 57 E/Q 83 rs773486662 0.8095 None gnomAD-4.0.0 6.84166E-07
29590 58 E/D 88 rs879152203 0.6491 None gnomAD-2.1.1 4.02E-06
29590 58 E/D 88 rs879152203 0.6491 None gnomAD-3.1.2 6.57E-06
29590 58 E/D 88 rs879152203 0.6491 None gnomAD-4.0.0 1.05347E-05
29590 58 E/Q 88 rs72648236 0.6491 None gnomAD-2.1.1 4.02E-06
29590 58 E/Q 88 rs72648236 0.6491 DCM
Literature None
29590 58 E/Q 88 rs72648236 0.6491 None gnomAD-4.0.0 1.59104E-06
29591 59 C/Y 89 None 0.1196 None gnomAD-4.0.0 1.20032E-06
29592 60 I/F 90 None 0.3528 None gnomAD-4.0.0 1.36835E-06
29592 60 I/L 90 None 0.3528 None gnomAD-4.0.0 6.84173E-07
29592 60 I/V 90 rs1700602244 0.3528 None gnomAD-4.0.0 3.42087E-06
29593 61 I/L 91 rs1412856815 0.1854 None gnomAD-2.1.1 4.02E-06
29593 61 I/L 91 rs1412856815 0.1854 None gnomAD-4.0.0 1.36834E-06
29593 61 I/T 91 None 0.1854 None gnomAD-4.0.0 3.18212E-06
29595 63 T/N 93 rs1575546136 0.2174 None gnomAD-4.0.0 1.59107E-06
29596 64 T/A 94 None 0.5649 None gnomAD-4.0.0 2.40064E-06
29596 64 T/I 94 rs786205371 0.5649 None gnomAD-2.1.1 8.04E-06
29596 64 T/I 94 rs786205371 0.5649 None gnomAD-4.0.0 4.78925E-06
29596 64 T/S 94 rs786205371 0.5649 None gnomAD-2.1.1 1.07E-05
29596 64 T/S 94 rs786205371 0.5649 None gnomAD-3.1.2 2.63E-05
29596 64 T/S 94 rs786205371 0.5649 None gnomAD-4.0.0 1.54928E-05
29598 66 I/S 97 None 0.1534 None gnomAD-4.0.0 1.59112E-06
29599 67 I/M 98 rs771722266 0.4365 None gnomAD-2.1.1 7.14E-06
29599 67 I/M 98 rs771722266 0.4365 None gnomAD-4.0.0 9.5787E-06
29599 67 I/T 98 None 0.4365 None gnomAD-4.0.0 2.05257E-06
29600 68 K/I 99 rs548209283 0.7788 None gnomAD-2.1.1 2.41E-05
29600 68 K/I 99 rs548209283 0.7788 None gnomAD-3.1.2 1.31E-05
29600 68 K/I 99 rs548209283 0.7788 None 1000 genomes 1.99681E-04
29600 68 K/I 99 rs548209283 0.7788 None gnomAD-4.0.0 1.15267E-05
29601 69 G/E 100 rs773909810 0.3760 None gnomAD-2.1.1 4.02E-06
29601 69 G/E 100 rs773909810 0.3760 None gnomAD-4.0.0 1.59124E-06
29601 69 G/R 100 rs1700593834 0.3760 None gnomAD-3.1.2 6.57E-06
29601 69 G/R 100 rs1700593834 0.3760 None gnomAD-4.0.0 6.57471E-06
29602 70 N/K 102 rs1700590955 0.3076 None gnomAD-4.0.0 1.20033E-06
29602 70 N/S 102 rs749229315 0.3076 None gnomAD-2.1.1 4.02E-06
29602 70 N/S 102 rs749229315 0.3076 None gnomAD-4.0.0 1.59123E-06
29603 71 E/K 103 rs777572153 0.2821 None gnomAD-2.1.1 1.21E-05
29603 71 E/K 103 rs777572153 0.2821 None gnomAD-4.0.0 1.27303E-05
29605 73 I/L 105 rs755867567 0.1921 None gnomAD-2.1.1 4.03E-06
29605 73 I/N 105 rs906583017 0.1921 None gnomAD-2.1.1 3.19E-05
29605 73 I/N 105 rs906583017 0.1921 None gnomAD-3.1.2 1.32E-05
29605 73 I/N 105 rs906583017 0.1921 None gnomAD-4.0.0 1.31506E-05
29607 75 R/G 107 rs781330566 0.1223 None gnomAD-2.1.1 8.07E-06
29607 75 R/G 107 rs781330566 0.1223 None gnomAD-4.0.0 1.36873E-06
29607 75 R/Q 107 rs755212831 0.1223 None gnomAD-2.1.1 4.84E-05
29607 75 R/Q 107 rs755212831 0.1223 None gnomAD-3.1.2 1.97E-05
29607 75 R/Q 107 rs755212831 0.1223 None gnomAD-4.0.0 3.28474E-05
29607 75 R/W 107 rs781330566 0.1223 None gnomAD-2.1.1 1.43E-05
29607 75 R/W 107 rs781330566 0.1223 None gnomAD-3.1.2 3.29E-05
29607 75 R/W 107 rs781330566 0.1223 None gnomAD-4.0.0 1.17765E-05
29609 77 R/G 109 rs766450773 0.2695 None gnomAD-4.0.0 6.84818E-06
29609 77 R/Q 109 rs758876816 0.2695 None gnomAD-2.1.1 2.42E-05
29609 77 R/Q 109 rs758876816 0.2695 None gnomAD-4.0.0 1.09493E-05
29610 78 A/D 110 rs1060500410 0.0929 None gnomAD-3.1.2 6.57E-06
29610 78 A/D 110 rs1060500410 0.0929 None gnomAD-4.0.0 5.12605E-06
29610 78 A/T 110 rs1289495878 0.0929 None gnomAD-2.1.1 4.04E-06
29610 78 A/T 110 rs1289495878 0.0929 None gnomAD-4.0.0 3.18407E-06
29611 79 V/L 111 rs79299277 0.1053 None gnomAD-2.1.1 4.05E-06
29611 79 V/L 111 rs79299277 0.1053 None gnomAD-3.1.2 2.63E-05
29611 79 V/L 111 rs79299277 0.1053 None 1000 genomes 3.99361E-04
29611 79 V/L 111 rs79299277 0.1053 None gnomAD-4.0.0 6.19849E-06
29611 79 V/M 111 rs79299277 0.1053 None gnomAD-2.1.1 1.62E-05
29611 79 V/M 111 rs79299277 0.1053 None gnomAD-3.1.2 3.29E-05
29611 79 V/M 111 rs79299277 0.1053 None gnomAD-4.0.0 2.78953E-05
29612 80 N/K 112 rs767347782 0.1142 None gnomAD-4.0.0 3.05098E-05
29614 82 Y/C 114 rs770430100 0.6684 None gnomAD-2.1.1 3.18E-05
29614 82 Y/C 114 rs770430100 0.6684 None gnomAD-4.0.0 1.59249E-06
29614 82 Y/H 114 None 0.6684 None gnomAD-4.0.0 1.5924E-06
29615 83 G/R 115 rs878880360 0.2353 None gnomAD-2.1.1 7.2E-06
29615 83 G/R 115 rs878880360 0.2353 None gnomAD-3.1.2 6.57E-06
29615 83 G/R 115 rs878880360 0.2353 None gnomAD-4.0.0 2.56401E-06
29616 84 I/F 117 rs768798726 0.5449 None gnomAD-4.0.0 1.59433E-06
29616 84 I/N 117 None 0.5449 None gnomAD-4.0.0 1.59284E-06
29618 86 E/K 119 rs879222602 0.4565 None gnomAD-2.1.1 4.05E-06
29618 86 E/K 119 rs879222602 0.4565 None gnomAD-4.0.0 1.98497E-05
29619 87 P/L 120 rs1042897248 0.3447 None gnomAD-4.0.0 6.84609E-07
29621 89 E/A 122 None 0.3482 None gnomAD-4.0.0 6.84343E-07
29621 89 E/D 122 rs750981091 0.3482 None gnomAD-2.1.1 8.06E-06
29621 89 E/D 122 rs750981091 0.3482 None gnomAD-3.1.2 1.97E-05
29621 89 E/D 122 rs750981091 0.3482 None gnomAD-4.0.0 1.9213E-05
29621 89 E/G 122 rs1559228678 0.3482 None gnomAD-4.0.0 6.84343E-07
29621 89 E/V 122 None 0.3482 None gnomAD-4.0.0 6.84343E-06
29622 90 S/Y 123 rs1274325104 0.1588 None gnomAD-2.1.1 8.07E-06
29622 90 S/Y 123 rs1274325104 0.1588 None gnomAD-4.0.0 3.18379E-06
29623 91 D/E 125 rs753493628 0.9430 None gnomAD-2.1.1 4.03E-06
29623 91 D/E 125 rs753493628 0.9430 None gnomAD-4.0.0 4.77591E-06
29623 91 D/G 125 None 0.9430 None gnomAD-4.0.0 1.59197E-06
29625 93 V/A 127 rs975051057 0.1428 None gnomAD-2.1.1 8.07E-06
29625 93 V/A 127 rs975051057 0.1428 None gnomAD-3.1.2 1.97E-05
29625 93 V/A 127 rs975051057 0.1428 None gnomAD-4.0.0 6.40801E-06
29625 93 V/I 127 rs764499992 0.1428 None gnomAD-2.1.1 1.08E-05
29625 93 V/I 127 rs764499992 0.1428 None gnomAD-3.1.2 1.31E-05
29625 93 V/I 127 rs764499992 0.1428 None gnomAD-4.0.0 3.09925E-06
29626 94 V/A 129 rs766178585 0.3445 None gnomAD-2.1.1 4.04E-06
29626 94 V/A 129 rs766178585 0.3445 None gnomAD-4.0.0 2.73772E-05
29627 95 A/V 130 rs1406651794 0.0931 None gnomAD-2.1.1 4.04E-06
29628 96 K/R 131 rs1366016395 0.5767 None gnomAD-2.1.1 8.09E-06
29628 96 K/R 131 rs1366016395 0.5767 None gnomAD-3.1.2 6.57E-06
29628 96 K/R 131 rs1366016395 0.5767 None gnomAD-4.0.0 3.71933E-06
29629 97 N/K 132 rs759136146 0.7252 None gnomAD-4.0.0 4.79221E-06