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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5357 1 P/S 1 rs1467703602 0.1376 None gnomAD-2.1.1 4.26E-06
5358 2 F/L 2 None 0.2751 None gnomAD-4.0.0 1.38517E-06
5360 4 T/A 4 rs749081117 0.3440 None gnomAD-2.1.1 3.35E-05
5360 4 T/A 4 rs749081117 0.3440 None gnomAD-3.1.2 6.57E-06
5360 4 T/A 4 rs749081117 0.3440 None gnomAD-4.0.0 5.00678E-06
5362 6 P/L 7 rs2080839872 0.4485 None gnomAD-4.0.0 1.62566E-06
5363 7 L/S 8 rs1272893628 0.1556 None gnomAD-2.1.1 4.13E-06
5363 7 L/S 8 rs1272893628 0.1556 None gnomAD-4.0.0 4.85164E-06
5364 8 R/C 9 rs886044310 0.6155 None gnomAD-3.1.2 1.31E-05
5364 8 R/C 9 rs886044310 0.6155 None gnomAD-4.0.0 2.05879E-05
5364 8 R/H 9 rs200941841 0.6155 None gnomAD-2.1.1 1.46628E-04
5364 8 R/H 9 rs200941841 0.6155 None gnomAD-3.1.2 1.24896E-04
5364 8 R/H 9 rs200941841 0.6155 None gnomAD-4.0.0 7.17317E-05
5364 8 R/L 9 None 0.6155 None gnomAD-4.0.0 1.37841E-06
5364 8 R/S 9 None 0.6155 None gnomAD-4.0.0 6.893E-07
5365 9 N/D 11 None 0.6277 None gnomAD-4.0.0 1.37739E-06
5365 9 N/I 11 rs2080837550 0.6277 None gnomAD-4.0.0 1.60988E-06
5365 9 N/K 11 rs72648935 0.6277 None gnomAD-2.1.1 4.12E-06
5365 9 N/K 11 rs72648935 0.6277 None gnomAD-4.0.0 6.87793E-07
5365 9 N/Y 11 rs878854288 0.6277 None gnomAD-2.1.1 4.13E-06
5366 10 V/G 13 rs754980942 0.2932 None gnomAD-2.1.1 4.11E-06
5366 10 V/G 13 rs754980942 0.2932 None gnomAD-3.1.2 6.58E-06
5366 10 V/G 13 rs754980942 0.2932 None gnomAD-4.0.0 2.49006E-06
5366 10 V/M 13 rs372176136 0.2932 None gnomAD-2.1.1 4.11E-06
5366 10 V/M 13 rs372176136 0.2932 None gnomAD-3.1.2 1.31E-05
5366 10 V/M 13 rs372176136 0.2932 None gnomAD-4.0.0 3.2364E-05
5367 11 D/A 14 rs751854907 0.6248 None gnomAD-2.1.1 4.08E-06
5367 11 D/A 14 rs751854907 0.6248 None gnomAD-4.0.0 1.37336E-06
5367 11 D/G 14 rs751854907 0.6248 None gnomAD-2.1.1 3.19E-05
5367 11 D/G 14 rs751854907 0.6248 None gnomAD-3.1.2 1.31E-05
5367 11 D/G 14 rs751854907 0.6248 None gnomAD-4.0.0 3.10859E-06
5367 11 D/N 14 None 0.6248 None gnomAD-4.0.0 1.60627E-06
5367 11 D/Y 14 rs1438312782 0.6248 None gnomAD-2.1.1 4.1E-06
5367 11 D/Y 14 rs1438312782 0.6248 None gnomAD-3.1.2 1.31E-05
5367 11 D/Y 14 rs1438312782 0.6248 None gnomAD-4.0.0 3.87239E-06
5368 12 S/G 16 None 0.1926 None gnomAD-4.0.0 3.20634E-06
5368 12 S/N 16 None 0.1926 None gnomAD-4.0.0 1.37251E-06
5368 12 S/R 16 None 0.1926 None gnomAD-4.0.0 1.6018E-06
5369 13 V/A 18 rs1407785236 0.5978 None gnomAD-2.1.1 8.13E-06
5369 13 V/A 18 rs1407785236 0.5978 None gnomAD-4.0.0 3.4302E-06
5369 13 V/F 18 None 0.5978 None gnomAD-4.0.0 6.86035E-07
5369 13 V/I 18 rs780410052 0.5978 None gnomAD-2.1.1 4.07E-06
5369 13 V/I 18 rs780410052 0.5978 None gnomAD-4.0.0 3.43017E-06
5370 14 V/F 23 rs1560821296 0.3536 None gnomAD-4.0.0 1.37176E-06
5370 14 V/I 23 None 0.3536 None gnomAD-4.0.0 2.05765E-06
5370 14 V/L 23 None 0.3536 None gnomAD-4.0.0 6.85882E-07
5371 15 N/I 24 None 0.7873 None gnomAD-4.0.0 1.5961E-06
5373 17 T/N 26 rs1057103177 0.6699 None gnomAD-3.1.2 2.63E-05
5373 17 T/N 26 rs1057103177 0.6699 None gnomAD-4.0.0 3.72098E-06
5374 18 C/R 28 rs2080832566 0.1490 None gnomAD-4.0.0 1.20032E-06
5374 18 C/Y 28 rs375577529 0.1490 None gnomAD-2.1.1 8.61E-05
5374 18 C/Y 28 rs375577529 0.1490 None gnomAD-3.1.2 9.86E-05
5374 18 C/Y 28 rs375577529 0.1490 None gnomAD-4.0.0 1.19064E-04
5375 19 R/S 29 None 0.4108 None gnomAD-4.0.0 1.20032E-06
5376 20 L/M 30 rs72648936 0.1266 None gnomAD-2.1.1 5.01E-05
5376 20 L/M 30 rs72648936 0.1266 None gnomAD-3.1.2 7.55793E-04
5376 20 L/M 30 rs72648936 0.1266 None gnomAD-4.0.0 1.16544E-04
5376 20 L/P 30 rs1560821110 0.1266 None gnomAD-3.1.2 6.57E-06
5376 20 L/P 30 rs1560821110 0.1266 None gnomAD-4.0.0 6.57013E-06
5377 21 D/V 31 None 0.4895 None gnomAD-4.0.0 1.59243E-06
5378 22 C/F 33 None 0.0800 None gnomAD-4.0.0 6.84426E-07
5378 22 C/R 33 None 0.0800 None gnomAD-4.0.0 1.20032E-06
5378 22 C/Y 33 rs754271006 0.0800 None gnomAD-2.1.1 4.03E-06
5378 22 C/Y 33 rs754271006 0.0800 None gnomAD-4.0.0 1.36885E-06
5379 23 K/T 34 rs752346935 0.2749 None gnomAD-2.1.1 1.07E-05
5379 23 K/T 34 rs752346935 0.2749 None gnomAD-3.1.2 1.97E-05
5379 23 K/T 34 rs752346935 0.2749 None gnomAD-4.0.0 1.67356E-05
5380 24 I/T 35 rs767107151 0.1212 None gnomAD-2.1.1 2.02E-05
5380 24 I/T 35 rs767107151 0.1212 None gnomAD-4.0.0 7.96105E-06
5380 24 I/V 35 rs1280725528 0.1212 None gnomAD-4.0.0 1.59225E-06
5381 25 A/S 38 None 0.1855 None gnomAD-4.0.0 2.40064E-06
5382 26 G/D 40 None 0.2264 None gnomAD-4.0.0 6.84355E-07
5382 26 G/V 40 None 0.2264 None gnomAD-4.0.0 6.84355E-07
5383 27 S/A 41 rs758960111 0.1461 None gnomAD-2.1.1 3.19E-05
5383 27 S/A 41 rs758960111 0.1461 None gnomAD-3.1.2 6.57E-06
5383 27 S/A 41 rs758960111 0.1461 None gnomAD-4.0.0 6.57488E-06
5383 27 S/F 41 rs774061411 0.1461 None gnomAD-2.1.1 8.06E-06
5383 27 S/F 41 rs774061411 0.1461 None gnomAD-3.1.2 1.31E-05
5383 27 S/F 41 rs774061411 0.1461 None gnomAD-4.0.0 4.33884E-06
5383 27 S/T 41 rs758960111 0.1461 None gnomAD-2.1.1 4.03E-06
5383 27 S/T 41 rs758960111 0.1461 None gnomAD-3.1.2 2.63E-05
5383 27 S/T 41 rs758960111 0.1461 None gnomAD-4.0.0 2.62995E-05
5384 28 L/F 42 rs879244251 0.5825 None gnomAD-4.0.0 6.84362E-07
5384 28 L/V 42 None 0.5825 None gnomAD-4.0.0 6.84362E-07
5385 29 P/A 43 rs368729048 0.8257 None gnomAD-2.1.1 4.03E-06
5385 29 P/A 43 rs368729048 0.8257 None gnomAD-3.1.2 6.57E-06
5385 29 P/A 43 rs368729048 0.8257 None gnomAD-4.0.0 6.08985E-06
5386 30 M/I 44 None 0.1807 None gnomAD-4.0.0 1.44039E-05
5386 30 M/L 44 None 0.1807 None gnomAD-4.0.0 1.36867E-06
5386 30 M/T 44 rs375417155 0.1807 None gnomAD-2.1.1 2.42E-05
5386 30 M/T 44 rs375417155 0.1807 None gnomAD-3.1.2 1.97E-05
5386 30 M/T 44 rs375417155 0.1807 None gnomAD-4.0.0 2.16929E-05
5386 30 M/V 44 rs567457007 0.1807 None gnomAD-2.1.1 2.86E-05
5386 30 M/V 44 rs567457007 0.1807 None gnomAD-3.1.2 6.58E-05
5386 30 M/V 44 rs567457007 0.1807 None gnomAD-4.0.0 2.10724E-05
5387 31 R/G 45 rs371501460 0.7985 None gnomAD-2.1.1 3.19E-05
5387 31 R/G 45 rs371501460 0.7985 None gnomAD-4.0.0 1.36867E-06
5387 31 R/T 45 rs748155563 0.7985 None gnomAD-2.1.1 3.22E-05
5387 31 R/T 45 rs748155563 0.7985 None gnomAD-4.0.0 6.04941E-05
5388 32 V/L 46 rs796743868 0.2789 None gnomAD-2.1.1 4.03E-06
5388 32 V/L 46 rs796743868 0.2789 None gnomAD-3.1.2 6.57E-06
5388 32 V/L 46 rs796743868 0.2789 None gnomAD-4.0.0 6.57289E-06
5389 33 S/F 47 rs780968460 0.2163 None gnomAD-2.1.1 4.03E-06
5389 33 S/F 47 rs780968460 0.2163 None gnomAD-4.0.0 3.18385E-06
5391 35 F/L 49 rs1290194262 0.1551 None gnomAD-2.1.1 3.19E-05
5391 35 F/L 49 rs1290194262 0.1551 None gnomAD-3.1.2 6.57E-06
5391 35 F/L 49 rs1290194262 0.1551 None gnomAD-4.0.0 6.84329E-07
5392 36 K/R 50 rs794729609 0.1510 None gnomAD-3.1.2 6.57E-06
5392 36 K/R 50 rs794729609 0.1510 None gnomAD-4.0.0 2.56299E-06
5393 37 D/E 51 rs768837104 0.5773 None gnomAD-2.1.1 8.06E-06
5393 37 D/E 51 rs768837104 0.5773 None gnomAD-3.1.2 6.58E-06
5393 37 D/E 51 rs768837104 0.5773 None gnomAD-4.0.0 7.4378E-06
5393 37 D/H 51 None 0.5773 None gnomAD-4.0.0 6.84316E-07
5393 37 D/N 51 rs867980863 0.5773 None gnomAD-2.1.1 8.06E-06
5393 37 D/N 51 rs867980863 0.5773 None gnomAD-3.1.2 1.31E-05
5393 37 D/N 51 rs867980863 0.5773 None gnomAD-4.0.0 1.92135E-05
5393 37 D/Y 51 None 0.5773 None gnomAD-4.0.0 6.84316E-07
5394 38 G/S 52 None 0.4673 None gnomAD-4.0.0 3.18372E-06
5395 39 K/E 55 None 0.7909 None gnomAD-4.0.0 2.40064E-06
5396 40 E/K 56 rs780211454 0.4731 None gnomAD-2.1.1 8.06E-06
5396 40 E/K 56 rs780211454 0.4731 None gnomAD-4.0.0 1.59178E-06
5397 41 I/T 58 rs1362992469 0.1559 None gnomAD-2.1.1 3.19E-05
5397 41 I/T 58 rs1362992469 0.1559 None gnomAD-3.1.2 6.58E-06
5397 41 I/T 58 rs1362992469 0.1559 None gnomAD-4.0.0 4.06017E-06
5397 41 I/V 58 rs1451191038 0.1559 None gnomAD-2.1.1 3.19E-05
5397 41 I/V 58 rs1451191038 0.1559 None gnomAD-3.1.2 6.57E-06
5397 41 I/V 58 rs1451191038 0.1559 None gnomAD-4.0.0 2.56291E-06
5400 44 S/F 73 None 0.2816 None gnomAD-4.0.0 2.40064E-06
5400 44 S/P 73 None 0.2816 None gnomAD-4.0.0 1.59169E-06
5401 45 D/E 111 rs1349486698 1.1339 None gnomAD-3.1.2 6.57E-06
5401 45 D/E 111 rs1349486698 1.1339 None gnomAD-4.0.0 6.84299E-07
5402 46 R/T 115 rs886042411 0.5468 None gnomAD-2.1.1 4.03E-06
5402 46 R/T 115 rs886042411 0.5468 None gnomAD-3.1.2 1.97E-05
5402 46 R/T 115 rs886042411 0.5468 None gnomAD-4.0.0 7.43721E-06
5403 47 Y/F 121 None 0.2295 None gnomAD-4.0.0 1.59173E-06
5404 48 R/S 122 rs758704167 0.5428 None gnomAD-2.1.1 4.03E-06
5404 48 R/S 122 rs758704167 0.5428 None gnomAD-3.1.2 1.31E-05
5404 48 R/S 122 rs758704167 0.5428 None gnomAD-4.0.0 1.30154E-05
5405 49 I/M 123 None 0.3090 None gnomAD-4.0.0 1.20032E-06
5405 49 I/T 123 rs1165296614 0.3090 None gnomAD-2.1.1 3.19E-05
5405 49 I/T 123 rs1165296614 0.3090 None gnomAD-3.1.2 6.57E-06
5405 49 I/T 123 rs1165296614 0.3090 None gnomAD-4.0.0 2.56293E-06
5406 50 A/P 125 None 0.3535 None gnomAD-4.0.0 1.59175E-06
5406 50 A/T 125 rs750622079 0.3535 None gnomAD-2.1.1 4.03E-06
5407 51 F/S 127 rs367620757 0.3217 None gnomAD-2.1.1 1.21E-05
5407 51 F/S 127 rs367620757 0.3217 None gnomAD-3.1.2 6.58E-06
5407 51 F/S 127 rs367620757 0.3217 None gnomAD-4.0.0 8.67713E-06
5410 54 G/C 134 None 0.2034 None gnomAD-4.0.0 6.84302E-07
5411 55 T/I 135 rs757542282 0.2532 None gnomAD-2.1.1 4.03E-06
5411 55 T/I 135 rs757542282 0.2532 None gnomAD-4.0.0 1.36862E-06
5411 55 T/P 135 None 0.2532 None gnomAD-4.0.0 1.20032E-06
5412 56 A/G 136 rs1282477272 0.0819 None gnomAD-2.1.1 4.03E-06
5412 56 A/G 136 rs1282477272 0.0819 None gnomAD-4.0.0 2.73727E-06
5412 56 A/T 136 rs727504442 0.0819 None gnomAD-2.1.1 1.21E-05
5412 56 A/T 136 rs727504442 0.0819 None gnomAD-3.1.2 3.29E-05
5412 56 A/T 136 rs727504442 0.0819 None gnomAD-4.0.0 4.95824E-06
5414 58 L/S 138 rs764508505 0.0729 None gnomAD-2.1.1 1.21E-05
5414 58 L/S 138 rs764508505 0.0729 None gnomAD-4.0.0 1.36864E-06
5414 58 L/W 138 rs764508505 0.0729 None gnomAD-3.1.2 6.57E-06
5414 58 L/W 138 rs764508505 0.0729 None gnomAD-4.0.0 1.8594E-06
5415 59 E/A 139 None 0.3479 None gnomAD-4.0.0 2.40064E-06
5415 59 E/D 139 None 0.3479 None gnomAD-4.0.0 2.40064E-06
5415 59 E/K 139 rs761181567 0.3479 None gnomAD-2.1.1 8.06E-06
5416 60 I/M 140 None 0.0975 None gnomAD-4.0.0 2.05298E-06
5416 60 I/V 140 rs1283439535 0.0975 None gnomAD-2.1.1 4.03E-06
5416 60 I/V 140 rs1283439535 0.0975 None gnomAD-4.0.0 2.73729E-06
5418 62 R/G 143 rs375436388 0.7614 None gnomAD-2.1.1 4.03E-06
5418 62 R/G 143 rs375436388 0.7614 None gnomAD-3.1.2 6.57E-06
5418 62 R/G 143 rs375436388 0.7614 None gnomAD-4.0.0 6.57151E-06
5418 62 R/S 143 rs1252883471 0.7614 None gnomAD-3.1.2 1.31E-05
5418 62 R/S 143 rs1252883471 0.7614 None gnomAD-4.0.0 1.30158E-05
5418 62 R/T 143 rs2080809923 0.7614 None gnomAD-3.1.2 6.57E-06
5418 62 R/T 143 rs2080809923 0.7614 None gnomAD-4.0.0 6.57203E-06
5419 63 V/A 144 rs1352050140 0.1039 None gnomAD-2.1.1 4.03E-06
5419 63 V/A 144 rs1352050140 0.1039 None gnomAD-4.0.0 1.59198E-06
5419 63 V/I 144 None 0.1039 None gnomAD-4.0.0 2.053E-06
5420 64 D/N 145 rs765827073 0.3276 None gnomAD-2.1.1 4.03E-06
5420 64 D/N 145 rs765827073 0.3276 None gnomAD-4.0.0 3.18391E-06
5421 65 M/T 146 rs1304285904 0.3516 None gnomAD-2.1.1 4.03E-06
5421 65 M/T 146 rs1304285904 0.3516 None gnomAD-4.0.0 2.05305E-06
5421 65 M/V 146 rs1353177231 0.3516 None gnomAD-2.1.1 4.03E-06
5422 66 N/K 148 rs762625771 0.6938 None gnomAD-3.1.2 6.58E-06
5422 66 N/K 148 rs762625771 0.6938 None gnomAD-4.0.0 6.00203E-06
5423 67 D/N 149 rs915060068 0.1748 None gnomAD-2.1.1 4.03E-06
5423 67 D/N 149 rs915060068 0.1748 None gnomAD-4.0.0 3.42177E-06
5423 67 D/Y 149 rs915060068 0.1748 None gnomAD-3.1.2 6.57E-06
5423 67 D/Y 149 rs915060068 0.1748 None gnomAD-4.0.0 1.23961E-06
5424 68 A/S 151 None 0.2240 None gnomAD-4.0.0 3.18415E-06
5424 68 A/V 151 rs1466084495 0.2240 None gnomAD-2.1.1 4.04E-06
5424 68 A/V 151 rs1466084495 0.2240 None gnomAD-4.0.0 1.59207E-06
5426 70 N/I 153 rs761498812 0.4414 None gnomAD-2.1.1 4.04E-06
5426 70 N/I 153 rs761498812 0.4414 None gnomAD-4.0.0 1.59237E-06
5426 70 N/S 153 rs761498812 0.4414 None gnomAD-2.1.1 4.04E-06
5426 70 N/S 153 rs761498812 0.4414 None gnomAD-4.0.0 1.59237E-06
5427 71 F/L 154 None 0.1183 None gnomAD-4.0.0 1.59221E-06
5427 71 F/V 154 rs776697030 0.1183 None gnomAD-2.1.1 8.07E-06
5427 71 F/V 154 rs776697030 0.1183 None gnomAD-3.1.2 6.57E-06
5427 71 F/V 154 rs776697030 0.1183 None gnomAD-4.0.0 3.84521E-06
5428 72 T/A 155 None 0.1782 None gnomAD-4.0.0 1.59287E-06
5429 73 C/F 156 None 0.0633 None gnomAD-4.0.0 1.59259E-06
5429 73 C/Y 156 None 0.0633 None gnomAD-4.0.0 1.59259E-06
5430 74 R/Q 157 rs746130933 0.2879 None gnomAD-2.1.1 1.21E-05
5430 74 R/Q 157 rs746130933 0.2879 None gnomAD-3.1.2 6.57E-06
5430 74 R/Q 157 rs746130933 0.2879 None gnomAD-4.0.0 3.71924E-06
5431 75 A/D 158 rs1045107649 0.0971 None gnomAD-3.1.2 6.57E-06
5431 75 A/D 158 rs1045107649 0.0971 None gnomAD-4.0.0 4.33906E-06
5431 75 A/P 158 rs757710470 0.0971 None gnomAD-2.1.1 2.02E-05
5431 75 A/P 158 rs757710470 0.0971 None gnomAD-3.1.2 6.57E-06
5431 75 A/P 158 rs757710470 0.0971 None gnomAD-4.0.0 1.4257E-05
5431 75 A/T 158 None 0.0971 None gnomAD-2.1.1 2.02E-05
5431 75 A/T 158 None 0.0971 None gnomAD-4.0.0 6.1598E-06
5432 76 T/R 159 None 0.2976 None gnomAD-4.0.0 1.59238E-06
5433 77 N/D 161 rs749623638 0.1487 None gnomAD-2.1.1 4.04E-06
5433 77 N/D 161 rs749623638 0.1487 None gnomAD-4.0.0 6.00161E-06
5434 78 S/F 162 None 0.6694 None gnomAD-4.0.0 1.59227E-06
5435 79 V/M 163 rs72648937 0.4598 None gnomAD-2.1.1 5.98837E-03
5435 79 V/M 163 rs72648937 0.4598 None gnomAD-3.1.2 6.49248E-03
5435 79 V/M 163 rs72648937 0.4598 None 1000 genomes 3.59425E-03
5435 79 V/M 163 rs72648937 0.4598 None gnomAD-4.0.0 8.05303E-03
5437 81 S/N 165 rs794727755 0.4222 None gnomAD-2.1.1 7.17E-06
5437 81 S/N 165 rs794727755 0.4222 None gnomAD-3.1.2 3.29E-05
5437 81 S/N 165 rs794727755 0.4222 None gnomAD-4.0.0 1.92194E-05
5437 81 S/R 165 None 0.4222 None gnomAD-4.0.0 1.59288E-06
5438 82 K/E 166 None 0.5428 None gnomAD-4.0.0 1.59333E-06
5438 82 K/R 166 rs190636272 0.5428 None gnomAD-2.1.1 5.7671E-04
5438 82 K/R 166 rs190636272 0.5428 None gnomAD-3.1.2 5.97984E-04
5438 82 K/R 166 rs190636272 0.5428 None 1000 genomes 1.99681E-04
5438 82 K/R 166 rs190636272 0.5428 None gnomAD-4.0.0 8.02846E-04
5442 86 G/A 172 None 0.1413 None gnomAD-4.0.0 2.05467E-06
5442 86 G/R 172 None 0.1413 None gnomAD-4.0.0 1.59491E-06
5443 87 A/S 173 None 0.2228 None gnomAD-4.0.0 2.05559E-06
5444 88 L/M 174 None 0.1104 None gnomAD-4.0.0 6.85438E-07
5444 88 L/P 174 rs1396279222 0.1104 None gnomAD-2.1.1 4.06E-06
5444 88 L/P 174 rs1396279222 0.1104 None gnomAD-4.0.0 1.60205E-06
5445 89 I/L 175 rs1360601333 0.4085 None gnomAD-2.1.1 4.06E-06
5445 89 I/L 175 rs1360601333 0.4085 None gnomAD-4.0.0 2.05861E-06
5445 89 I/M 175 rs1485054332 0.4085 None gnomAD-2.1.1 3.18E-05
5445 89 I/T 175 rs1286622718 0.4085 None gnomAD-2.1.1 4.06E-06
5445 89 I/T 175 rs1286622718 0.4085 None gnomAD-4.0.0 1.6019E-06
5446 90 V/A 177 None 0.1496 None gnomAD-4.0.0 1.20032E-06
5446 90 V/L 177 None 0.1496 None gnomAD-4.0.0 1.37366E-06
5446 90 V/M 177 rs1232217078 0.1496 None gnomAD-3.1.2 6.57E-06
5446 90 V/M 177 rs1232217078 0.1496 None gnomAD-4.0.0 6.57091E-06