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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30422 1 P/L 1 None 0.9870 None gnomAD-4.0.0 1.40508E-06
30423 2 V/I 2 rs1699485019 0.1219 None gnomAD-4.0.0 1.05561E-05
30423 2 V/L 2 None 0.1219 None gnomAD-4.0.0 7.03737E-07
30424 3 D/E 3 rs1699307394 0.2810 None gnomAD-4.0.0 4.83532E-06
30425 4 P/L 4 None 0.3240 None gnomAD-4.0.0 2.06199E-06
30425 4 P/Q 4 rs1373323809 0.3240 None gnomAD-2.1.1 4.11E-06
30425 4 P/Q 4 rs1373323809 0.3240 None gnomAD-4.0.0 1.37466E-06
30426 5 P/H 5 None 0.1290 None gnomAD-4.0.0 6.86899E-07
30426 5 P/L 5 rs774454485 0.1290 None gnomAD-2.1.1 1.64E-05
30426 5 P/L 5 rs774454485 0.1290 None gnomAD-3.1.2 6.58E-06
30426 5 P/L 5 rs774454485 0.1290 None gnomAD-4.0.0 5.59745E-06
30426 5 P/S 5 rs1431006105 0.1290 None gnomAD-3.1.2 6.57E-06
30426 5 P/S 5 rs1431006105 0.1290 None gnomAD-4.0.0 3.86971E-06
30426 5 P/T 5 rs1431006105 0.1290 None gnomAD-4.0.0 4.81442E-06
30429 8 P/A 9 rs1457717361 0.1249 None gnomAD-2.1.1 4.04E-06
30429 8 P/A 9 rs1457717361 0.1249 None gnomAD-4.0.0 2.05519E-06
30429 8 P/L 9 None 0.1249 None gnomAD-4.0.0 6.85067E-07
30429 8 P/R 9 None 0.1249 None gnomAD-4.0.0 6.85067E-07
30430 9 D/G 11 None 0.5959 None gnomAD-4.0.0 1.20032E-06
30432 11 I/T 13 None 0.2237 None gnomAD-4.0.0 2.05359E-06
30432 11 I/V 13 rs766841800 0.2237 None gnomAD-4.0.0 1.59297E-06
30433 12 D/E 14 None 0.2197 None gnomAD-4.0.0 1.59269E-06
30434 13 V/A 15 None 0.1040 None gnomAD-4.0.0 1.59268E-06
30435 14 T/I 16 rs1060500591 0.2442 None gnomAD-2.1.1 4.03E-06
30435 14 T/I 16 rs1060500591 0.2442 None gnomAD-3.1.2 1.97E-05
30435 14 T/I 16 rs1060500591 0.2442 None gnomAD-4.0.0 6.19929E-05
30436 15 R/G 17 None 0.5465 None gnomAD-4.0.0 1.36891E-06
30436 15 R/L 17 rs770081431 0.5465 None gnomAD-2.1.1 4.03E-06
30436 15 R/L 17 rs770081431 0.5465 None gnomAD-4.0.0 6.84457E-07
30436 15 R/Q 17 rs770081431 0.5465 None gnomAD-2.1.1 1.43E-05
30436 15 R/Q 17 rs770081431 0.5465 None gnomAD-3.1.2 3.95E-05
30436 15 R/Q 17 rs770081431 0.5465 None gnomAD-4.0.0 2.78976E-05
30436 15 R/W 17 rs773600127 0.5465 None gnomAD-2.1.1 1.43E-05
30436 15 R/W 17 rs773600127 0.5465 None gnomAD-3.1.2 1.97E-05
30436 15 R/W 17 rs773600127 0.5465 None gnomAD-4.0.0 1.3019E-05
30437 16 E/K 18 None 0.6173 None gnomAD-4.0.0 1.20032E-06
30438 17 T/A 19 None 0.2734 None gnomAD-4.0.0 3.60097E-06
30439 18 I/M 20 rs544097378 0.0731 None gnomAD-2.1.1 4.02E-06
30439 18 I/M 20 rs544097378 0.0731 None gnomAD-3.1.2 6.57E-06
30439 18 I/M 20 rs544097378 0.0731 None 1000 genomes 1.99681E-04
30439 18 I/M 20 rs544097378 0.0731 None gnomAD-4.0.0 6.56875E-06
30439 18 I/S 20 rs561319486 0.0731 None gnomAD-2.1.1 4.02E-06
30439 18 I/S 20 rs561319486 0.0731 None gnomAD-3.1.2 6.57E-06
30439 18 I/S 20 rs561319486 0.0731 None 1000 genomes 1.99681E-04
30439 18 I/S 20 rs561319486 0.0731 None gnomAD-4.0.0 2.56304E-06
30439 18 I/T 20 rs561319486 0.0731 None gnomAD-4.0.0 2.38819E-05
30440 19 T/I 21 rs1446052860 0.1618 None gnomAD-4.0.0 1.36871E-06
30440 19 T/P 21 None 0.1618 None gnomAD-4.0.0 1.59207E-06
30442 21 K/T 23 rs370086155 0.3974 None gnomAD-2.1.1 1.43E-05
30442 21 K/T 23 rs370086155 0.3974 None gnomAD-3.1.2 5.92E-05
30442 21 K/T 23 rs370086155 0.3974 None gnomAD-4.0.0 1.30159E-05
30443 22 W/R 24 rs1396920730 0.0998 None gnomAD-2.1.1 4.02E-06
30443 22 W/R 24 rs1396920730 0.0998 None gnomAD-4.0.0 3.18375E-06
30444 23 N/K 25 None 0.7510 None gnomAD-4.0.0 6.84333E-07
30444 23 N/S 25 None 0.7510 None gnomAD-4.0.0 1.20032E-06
30445 24 P/Q 26 rs749169334 0.4841 None gnomAD-2.1.1 4.02E-06
30445 24 P/Q 26 rs749169334 0.4841 None gnomAD-4.0.0 1.36864E-06
30445 24 P/R 26 None 0.4841 None gnomAD-2.1.1 3.19E-05
30445 24 P/R 26 None 0.4841 None gnomAD-4.0.0 4.79026E-06
30445 24 P/S 26 None 0.4841 None gnomAD-4.0.0 1.5919E-06
30446 25 P/L 27 rs1699285500 0.1618 None gnomAD-4.0.0 1.09491E-05
30448 27 R/C 29 rs756030714 0.7288 None gnomAD-2.1.1 3.93E-05
30448 27 R/C 29 rs756030714 0.7288 None gnomAD-3.1.2 3.29E-05
30448 27 R/C 29 rs756030714 0.7288 None gnomAD-4.0.0 2.9752E-05
30448 27 R/H 29 rs374474227 0.7288 None gnomAD-2.1.1 7.14E-05
30448 27 R/H 29 rs374474227 0.7288 None gnomAD-3.1.2 2.63E-05
30448 27 R/H 29 rs374474227 0.7288 None gnomAD-4.0.0 6.8799E-05
30448 27 R/L 29 None 0.7288 None gnomAD-4.0.0 6.84316E-07
30450 29 G/A 31 None 0.3780 None gnomAD-4.0.0 1.36861E-06
30450 29 G/R 31 rs755202685 0.3780 None gnomAD-2.1.1 1.07E-05
30450 29 G/R 31 rs755202685 0.3780 None gnomAD-3.1.2 1.97E-05
30450 29 G/R 31 rs755202685 0.3780 None gnomAD-4.0.0 6.40753E-06
30451 30 G/D 32 rs751610164 0.6651 None gnomAD-2.1.1 2.82E-05
30451 30 G/D 32 rs751610164 0.6651 None gnomAD-3.1.2 6.57E-06
30451 30 G/D 32 rs751610164 0.6651 None gnomAD-4.0.0 3.09891E-05
30452 31 S/N 33 None 0.2135 None gnomAD-4.0.0 1.59175E-06
30452 31 S/R 33 None 0.2135 None gnomAD-4.0.0 2.73722E-06
30453 32 K/T 34 None 0.8965 None gnomAD-4.0.0 1.59177E-06
30454 33 I/L 35 None 0.1853 None gnomAD-4.0.0 1.20032E-06
30454 33 I/T 35 rs878985220 0.1853 None gnomAD-2.1.1 7.14E-06
30454 33 I/T 35 rs878985220 0.1853 None gnomAD-3.1.2 1.32E-05
30454 33 I/T 35 rs878985220 0.1853 None gnomAD-4.0.0 1.98348E-05
30455 34 V/A 36 rs1281249484 0.3293 None gnomAD-2.1.1 8.05E-06
30455 34 V/A 36 rs1281249484 0.3293 None gnomAD-3.1.2 6.57E-06
30455 34 V/A 36 rs1281249484 0.3293 None gnomAD-4.0.0 2.4791E-06
30455 34 V/M 36 rs766444853 0.3293 None gnomAD-2.1.1 4.02E-06
30455 34 V/M 36 rs766444853 0.3293 None gnomAD-4.0.0 4.79007E-06
30456 35 G/D 37 rs973729733 0.1203 None gnomAD-3.1.2 6.58E-06
30456 35 G/D 37 rs973729733 0.1203 None gnomAD-4.0.0 6.57523E-06
30456 35 G/S 37 rs773655064 0.1203 None gnomAD-2.1.1 4.02E-06
30456 35 G/S 37 rs773655064 0.1203 None gnomAD-3.1.2 1.32E-05
30456 35 G/S 37 rs773655064 0.1203 None gnomAD-4.0.0 1.85939E-06
30457 36 Y/H 38 None 0.1191 None gnomAD-4.0.0 1.20032E-06
30458 37 S/G 39 None 0.2070 None gnomAD-4.0.0 1.5918E-06
30458 37 S/N 39 rs376634713 0.2070 None gnomAD-2.1.1 7.86E-05
30458 37 S/N 39 rs376634713 0.2070 None gnomAD-3.1.2 8.55E-05
30458 37 S/N 39 rs376634713 0.2070 None 1000 genomes 1.99681E-04
30458 37 S/N 39 rs376634713 0.2070 None gnomAD-4.0.0 7.80872E-05
30458 37 S/R 39 rs762232248 0.2070 None gnomAD-2.1.1 8.05E-06
30458 37 S/R 39 rs762232248 0.2070 None gnomAD-4.0.0 3.18366E-06
30459 38 I/N 40 None 0.0652 None gnomAD-4.0.0 6.8431E-07
30459 38 I/T 40 rs1336202751 0.0652 None gnomAD-2.1.1 4.02E-06
30459 38 I/T 40 rs1336202751 0.0652 None gnomAD-4.0.0 3.42155E-06
30460 39 E/K 41 rs908278682 0.1640 None gnomAD-2.1.1 3.19E-05
30460 39 E/K 41 rs908278682 0.1640 None gnomAD-3.1.2 6.57E-06
30460 39 E/K 41 rs908278682 0.1640 None gnomAD-4.0.0 6.57393E-06
30462 41 R/Q 43 rs794729529 0.2004 None gnomAD-2.1.1 2.01E-05
30462 41 R/Q 43 rs794729529 0.2004 None gnomAD-3.1.2 1.97E-05
30462 41 R/Q 43 rs794729529 0.2004 None gnomAD-4.0.0 2.85122E-05
30462 41 R/W 43 rs373623340 0.2004 None gnomAD-2.1.1 5.36E-05
30462 41 R/W 43 rs373623340 0.2004 None gnomAD-3.1.2 1.0523E-04
30462 41 R/W 43 rs373623340 0.2004 None 1000 genomes 5.99042E-04
30462 41 R/W 43 rs373623340 0.2004 None gnomAD-4.0.0 2.29324E-05
30467 46 R/C 64 rs775591945 0.8316 None gnomAD-2.1.1 5.72E-05
30467 46 R/C 64 rs775591945 0.8316 None gnomAD-3.1.2 1.05255E-04
30467 46 R/C 64 rs775591945 0.8316 None gnomAD-4.0.0 1.76042E-04
30467 46 R/H 64 rs572793448 0.8316 None gnomAD-2.1.1 2.15E-05
30467 46 R/H 64 rs572793448 0.8316 None gnomAD-3.1.2 8.54E-05
30467 46 R/H 64 rs572793448 0.8316 None 1000 genomes 1.99681E-04
30467 46 R/H 64 rs572793448 0.8316 None gnomAD-4.0.0 1.36348E-05
30467 46 R/S 64 None 0.8316 None gnomAD-4.0.0 6.84349E-07
30468 47 W/L 65 None 0.2249 None gnomAD-4.0.0 3.18384E-06
30468 47 W/R 65 None 0.2249 None gnomAD-4.0.0 1.5919E-06
30469 48 V/M 66 None 0.4739 None gnomAD-4.0.0 3.18384E-06
30470 49 R/I 67 rs371081348 0.3591 None gnomAD-2.1.1 4.03E-06
30470 49 R/I 67 rs371081348 0.3591 None gnomAD-3.1.2 1.97E-05
30470 49 R/I 67 rs371081348 0.3591 None gnomAD-4.0.0 1.97215E-05
30470 49 R/T 67 rs371081348 0.3591 None gnomAD-2.1.1 4.03E-06
30470 49 R/T 67 rs371081348 0.3591 None gnomAD-4.0.0 1.59193E-06
30471 50 C/S 68 rs1699261466 0.1481 None gnomAD-3.1.2 2.63E-05
30471 50 C/S 68 rs1699261466 0.1481 None gnomAD-4.0.0 3.42175E-06
30471 50 C/Y 68 None 0.1481 None gnomAD-4.0.0 6.84349E-07
30472 51 N/D 69 None 0.1115 None gnomAD-4.0.0 1.592E-06
30472 51 N/I 69 rs866951961 0.1115 None gnomAD-3.1.2 6.57E-06
30472 51 N/I 69 rs866951961 0.1115 None gnomAD-4.0.0 1.48754E-05
30474 53 T/I 72 rs1161044987 0.7527 None gnomAD-2.1.1 4.03E-06
30474 53 T/I 72 rs1161044987 0.7527 None gnomAD-4.0.0 1.59203E-06
30476 55 V/I 77 rs377531244 0.1348 None gnomAD-2.1.1 6.08E-05
30476 55 V/I 77 rs377531244 0.1348 None gnomAD-3.1.2 1.24903E-04
30476 55 V/I 77 rs377531244 0.1348 None gnomAD-4.0.0 4.71081E-05
30477 56 S/N 83 None 0.6047 None gnomAD-4.0.0 6.84373E-07
30477 56 S/T 83 rs1699253758 0.6047 None gnomAD-4.0.0 6.84373E-07
30478 57 E/D 88 rs373900294 0.5850 None gnomAD-2.1.1 2.51E-05
30478 57 E/D 88 rs373900294 0.5850 None gnomAD-3.1.2 1.05168E-04
30478 57 E/D 88 rs373900294 0.5850 None gnomAD-4.0.0 1.42561E-05
30478 57 E/V 88 rs794729531 0.5850 None gnomAD-2.1.1 2.02E-05
30478 57 E/V 88 rs794729531 0.5850 None gnomAD-3.1.2 1.31E-05
30478 57 E/V 88 rs794729531 0.5850 None gnomAD-4.0.0 1.02532E-05
30479 58 C/S 89 rs1248613242 0.1126 None gnomAD-2.1.1 3.19E-05
30479 58 C/S 89 rs1248613242 0.1126 None gnomAD-3.1.2 6.57E-06
30479 58 C/S 89 rs1248613242 0.1126 None gnomAD-4.0.0 1.2397E-06
30479 58 C/Y 89 None 0.1126 None gnomAD-4.0.0 2.73751E-06
30480 59 Q/H 90 rs794729532 0.2902 None gnomAD-2.1.1 4.03E-06
30480 59 Q/H 90 rs794729532 0.2902 None gnomAD-3.1.2 6.57E-06
30480 59 Q/H 90 rs794729532 0.2902 None gnomAD-4.0.0 2.47947E-06
30482 61 T/A 92 None 0.3221 None gnomAD-4.0.0 2.40065E-06
30482 61 T/K 92 rs1219629332 0.3221 None gnomAD-2.1.1 3.19E-05
30482 61 T/K 92 rs1219629332 0.3221 None gnomAD-3.1.2 6.57E-06
30482 61 T/K 92 rs1219629332 0.3221 None gnomAD-4.0.0 6.57315E-06
30484 63 T/I 94 rs1318850182 0.6064 None gnomAD-3.1.2 6.57E-06
30484 63 T/I 94 rs1318850182 0.6064 None gnomAD-4.0.0 6.57402E-06
30485 64 G/R 96 rs748001852 0.5334 None gnomAD-2.1.1 4.03E-06
30485 64 G/R 96 rs748001852 0.5334 None gnomAD-4.0.0 1.59231E-06
30486 65 L/H 97 None 0.1121 None gnomAD-4.0.0 1.59225E-06
30486 65 L/V 97 None 0.1121 None gnomAD-4.0.0 1.20032E-06
30487 66 S/G 98 rs1487384647 0.3834 None gnomAD-2.1.1 4.03E-06
30487 66 S/G 98 rs1487384647 0.3834 None gnomAD-4.0.0 1.59227E-06
30488 67 P/L 99 rs868503876 0.4387 None gnomAD-4.0.0 1.20032E-06
30489 68 G/V 100 rs755183656 0.3144 None gnomAD-2.1.1 4.03E-06
30489 68 G/V 100 rs755183656 0.3144 None gnomAD-3.1.2 6.57E-06
30489 68 G/V 100 rs755183656 0.3144 None gnomAD-4.0.0 1.23975E-06
30490 69 D/G 102 rs750498415 0.2952 None gnomAD-2.1.1 1.21E-05
30490 69 D/G 102 rs750498415 0.2952 None gnomAD-4.0.0 1.2739E-05
30490 69 D/N 102 rs758532843 0.2952 None gnomAD-2.1.1 4.03E-06
30490 69 D/N 102 rs758532843 0.2952 None gnomAD-4.0.0 1.36885E-06
30490 69 D/Y 102 rs758532843 0.2952 None gnomAD-2.1.1 8.07E-06
30490 69 D/Y 102 rs758532843 0.2952 None gnomAD-4.0.0 8.8975E-06
30491 70 R/C 103 rs1699239943 0.5882 None gnomAD-3.1.2 6.57E-06
30491 70 R/C 103 rs1699239943 0.5882 None gnomAD-4.0.0 3.09954E-06
30491 70 R/G 103 None 0.5882 None gnomAD-4.0.0 2.73776E-06
30491 70 R/H 103 rs765777852 0.5882 None gnomAD-2.1.1 1.43E-05
30491 70 R/H 103 rs765777852 0.5882 None gnomAD-3.1.2 6.57E-06
30491 70 R/H 103 rs765777852 0.5882 None gnomAD-4.0.0 4.95925E-06
30492 71 Y/C 104 rs769678577 0.1215 None gnomAD-2.1.1 2.15E-05
30492 71 Y/C 104 rs769678577 0.1215 None gnomAD-3.1.2 6.57E-06
30492 71 Y/C 104 rs769678577 0.1215 None gnomAD-4.0.0 1.79754E-05
30493 72 E/K 105 None 0.1394 None gnomAD-4.0.0 4.7771E-06
30494 73 F/L 106 None 0.0983 None gnomAD-4.0.0 1.59241E-06
30496 75 I/V 108 None 0.0561 None gnomAD-4.0.0 1.59217E-06
30497 76 I/V 109 None 0.1861 None gnomAD-4.0.0 1.20032E-06
30498 77 A/P 110 rs368724043 0.0922 None gnomAD-3.1.2 6.57E-06
30498 77 A/P 110 rs368724043 0.0922 None gnomAD-4.0.0 6.56771E-06
30498 77 A/T 110 None 0.0922 None gnomAD-2.1.1 4.03E-06
30498 77 A/T 110 None 0.0922 None gnomAD-4.0.0 1.20032E-06
30501 80 A/V 113 rs1299510786 0.3676 None gnomAD-2.1.1 4.03E-06
30501 80 A/V 113 rs1299510786 0.3676 None gnomAD-4.0.0 3.18468E-06
30502 81 V/A 114 None 0.7155 None gnomAD-4.0.0 1.59216E-06
30502 81 V/I 114 rs745705323 0.7155 None gnomAD-2.1.1 4.03E-06
30502 81 V/I 114 rs745705323 0.7155 None gnomAD-4.0.0 1.59221E-06
30503 82 G/E 115 None 0.3181 None gnomAD-4.0.0 6.84395E-07
30503 82 G/R 115 rs1161946493 0.3181 None gnomAD-2.1.1 4.03E-06
30503 82 G/R 115 rs1161946493 0.3181 None gnomAD-4.0.0 1.59221E-06
30503 82 G/V 115 rs1474006988 0.3181 None gnomAD-2.1.1 4.03E-06
30503 82 G/V 115 rs1474006988 0.3181 None gnomAD-4.0.0 6.84395E-07
30506 85 S/C 118 None 0.1052 None gnomAD-4.0.0 1.20033E-06
30506 85 S/N 118 rs1699224969 0.1052 None gnomAD-4.0.0 1.5923E-06
30507 86 P/L 119 rs774107448 0.3852 None gnomAD-2.1.1 2.02E-05
30507 86 P/L 119 rs774107448 0.3852 None gnomAD-3.1.2 1.32E-05
30507 86 P/L 119 rs774107448 0.3852 None gnomAD-4.0.0 1.61183E-05
30507 86 P/T 119 None 0.3852 None gnomAD-4.0.0 1.20033E-06
30508 87 P/L 120 rs1265539582 0.3871 None gnomAD-2.1.1 4.03E-06
30508 87 P/L 120 rs1265539582 0.3871 None gnomAD-4.0.0 1.59248E-06
30508 87 P/S 120 None 0.3871 None gnomAD-4.0.0 1.59244E-06
30510 89 Q/E 122 None 0.7855 None gnomAD-4.0.0 1.20034E-06
30511 90 S/Y 123 None 0.2617 None gnomAD-4.0.0 1.36896E-06
30513 92 G/D 125 rs748076186 0.2668 None gnomAD-2.1.1 1.21E-05
30513 92 G/D 125 rs748076186 0.2668 None gnomAD-4.0.0 6.84536E-06
30514 93 I/T 126 rs1699214522 0.6033 None gnomAD-3.1.2 6.57E-06
30514 93 I/T 126 rs1699214522 0.6033 None gnomAD-4.0.0 6.5722E-06
30514 93 I/V 126 rs1056281241 0.6033 None gnomAD-2.1.1 4.04E-06
30514 93 I/V 126 rs1056281241 0.6033 None gnomAD-4.0.0 1.59292E-06
30515 94 I/M 127 None 0.1129 None gnomAD-4.0.0 1.59315E-06
30515 94 I/T 127 rs2154150025 0.1129 None gnomAD-4.0.0 1.59299E-06
30515 94 I/V 127 rs1699213843 0.1129 None gnomAD-3.1.2 6.57E-06
30515 94 I/V 127 rs1699213843 0.1129 None gnomAD-4.0.0 2.0299E-06
30516 95 M/I 129 None 0.3357 None gnomAD-4.0.0 1.5936E-06
30516 95 M/V 129 None 0.3357 None gnomAD-4.0.0 1.59315E-06
30518 97 R/G 131 None 0.4662 None gnomAD-4.0.0 3.18731E-06
30519 98 D/E 132 rs202185465 0.4556 None gnomAD-2.1.1 7.19E-06
30519 98 D/E 132 rs202185465 0.4556 None gnomAD-3.1.2 2.63E-05
30519 98 D/E 132 rs202185465 0.4556 None gnomAD-4.0.0 2.62919E-05
30519 98 D/Y 132 None 0.4556 None gnomAD-4.0.0 6.8475E-07