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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25304 1 V/E 1 None 0.6541 None gnomAD-4.0.0 1.59198E-06
25305 2 P/L 2 rs142453163 0.1828 None gnomAD-2.1.1 9.66E-05
25305 2 P/L 2 rs142453163 0.1828 None gnomAD-3.1.2 1.11857E-04
25305 2 P/L 2 rs142453163 0.1828 None gnomAD-4.0.0 1.20247E-04
25305 2 P/S 2 rs1005621705 0.1828 None gnomAD-2.1.1 4.03E-06
25305 2 P/S 2 rs1005621705 0.1828 None gnomAD-4.0.0 1.16339E-05
25306 3 D/G 3 None 0.4405 None gnomAD-4.0.0 1.59196E-06
25306 3 D/H 3 None 0.4405 None gnomAD-4.0.0 1.36868E-06
25306 3 D/N 3 rs1447695905 0.4405 None gnomAD-3.1.2 6.58E-06
25306 3 D/N 3 rs1447695905 0.4405 None gnomAD-4.0.0 6.57825E-06
25308 5 P/L 5 rs776006935 0.1664 None gnomAD-2.1.1 1.21E-05
25308 5 P/L 5 rs776006935 0.1664 None gnomAD-4.0.0 6.36791E-06
25310 7 A/S 7 rs1559387965 0.3262 None gnomAD-4.0.0 1.36868E-06
25311 8 P/L 9 rs1479197659 0.2050 None gnomAD-2.1.1 4.03E-06
25311 8 P/S 9 None 0.2050 None gnomAD-4.0.0 1.20032E-06
25312 9 E/K 11 rs770655678 0.8124 None gnomAD-2.1.1 1.21E-05
25312 9 E/K 11 rs770655678 0.8124 None gnomAD-4.0.0 2.05303E-06
25313 10 V/F 12 None 0.3928 None gnomAD-4.0.0 1.36867E-06
25313 10 V/I 12 None 0.3928 None gnomAD-4.0.0 6.84335E-07
25314 11 T/I 13 rs1707646875 0.6011 None gnomAD-3.1.2 6.58E-06
25314 11 T/I 13 rs1707646875 0.6011 None gnomAD-4.0.0 6.57661E-06
25314 11 T/S 13 None 0.6011 None gnomAD-4.0.0 1.20032E-06
25316 13 V/L 15 rs908851465 0.3769 None gnomAD-3.1.2 6.57E-06
25316 13 V/L 15 rs908851465 0.3769 None gnomAD-4.0.0 1.59188E-06
25316 13 V/M 15 rs908851465 0.3769 None gnomAD-3.1.2 6.57E-06
25316 13 V/M 15 rs908851465 0.3769 None gnomAD-4.0.0 3.84475E-06
25317 14 T/P 16 rs762723439 0.4307 None gnomAD-4.0.0 1.59182E-06
25318 15 K/E 17 rs878854334 0.5593 None gnomAD-4.0.0 2.05294E-06
25318 15 K/N 17 rs1001852514 0.5593 None gnomAD-2.1.1 1.07E-05
25318 15 K/N 17 rs1001852514 0.5593 None gnomAD-3.1.2 3.29E-05
25318 15 K/N 17 rs1001852514 0.5593 None gnomAD-4.0.0 3.16112E-05
25320 17 S/A 19 rs772816442 0.1558 None gnomAD-2.1.1 2.42E-05
25320 17 S/A 19 rs772816442 0.1558 None gnomAD-3.1.2 1.97E-05
25320 17 S/A 19 rs772816442 0.1558 None gnomAD-4.0.0 2.2313E-05
25320 17 S/P 19 rs772816442 0.1558 None gnomAD-2.1.1 4.03E-06
25320 17 S/P 19 rs772816442 0.1558 None gnomAD-4.0.0 6.84311E-07
25321 18 M/T 20 rs748102666 0.1633 None gnomAD-2.1.1 4.03E-06
25321 18 M/T 20 rs748102666 0.1633 None gnomAD-4.0.0 9.5803E-06
25321 18 M/V 20 rs769235958 0.1633 None gnomAD-2.1.1 4.03E-06
25321 18 M/V 20 rs769235958 0.1633 None gnomAD-3.1.2 6.57E-06
25321 18 M/V 20 rs769235958 0.1633 None gnomAD-4.0.0 8.67728E-06
25322 19 I/T 21 None 0.3163 None gnomAD-4.0.0 2.73724E-06
25323 20 V/A 22 rs781058398 0.1116 None gnomAD-2.1.1 1.43E-05
25323 20 V/A 22 rs781058398 0.1116 None gnomAD-3.1.2 6.58E-06
25323 20 V/A 22 rs781058398 0.1116 None gnomAD-4.0.0 5.12677E-06
25323 20 V/F 22 rs1342869441 0.1116 None gnomAD-2.1.1 4.03E-06
25323 20 V/F 22 rs1342869441 0.1116 None gnomAD-4.0.0 1.59178E-06
25323 20 V/G 22 rs781058398 0.1116 None gnomAD-4.0.0 1.59175E-06
25324 21 V/A 23 rs1369489276 0.3644 None gnomAD-2.1.1 8.06E-06
25324 21 V/A 23 rs1369489276 0.3644 None gnomAD-4.0.0 9.55079E-06
25324 21 V/L 23 None 0.3644 None gnomAD-4.0.0 1.59177E-06
25325 22 W/C 24 rs746749916 0.1551 None gnomAD-2.1.1 1.61E-05
25325 22 W/C 24 rs746749916 0.1551 None gnomAD-4.0.0 1.43262E-05
25325 22 W/R 24 rs1707625464 0.1551 None gnomAD-4.0.0 1.3686E-06
25326 23 E/G 25 rs767430531 0.4803 None gnomAD-2.1.1 4.03E-06
25326 23 E/G 25 rs767430531 0.4803 None gnomAD-3.1.2 1.97E-05
25326 23 E/G 25 rs767430531 0.4803 None gnomAD-4.0.0 1.17765E-05
25327 24 R/S 26 None 0.7393 None gnomAD-4.0.0 1.20032E-06
25328 25 P/L 27 rs758581188 0.2852 None gnomAD-2.1.1 4.03E-06
25328 25 P/L 27 rs758581188 0.2852 None gnomAD-3.1.2 6.58E-06
25328 25 P/L 27 rs758581188 0.2852 None gnomAD-4.0.0 3.84299E-05
25328 25 P/S 27 rs201776072 0.2852 None gnomAD-2.1.1 4.03E-06
25328 25 P/S 27 rs201776072 0.2852 None gnomAD-4.0.0 6.84309E-07
25328 25 P/T 27 rs201776072 0.2852 None gnomAD-2.1.1 8.06E-05
25328 25 P/T 27 rs201776072 0.2852 None gnomAD-3.1.2 6.58E-06
25328 25 P/T 27 rs201776072 0.2852 None gnomAD-4.0.0 1.36365E-05
25329 26 A/T 28 None 0.7579 None gnomAD-4.0.0 1.59182E-06
25330 27 S/A 29 None 0.4121 None gnomAD-4.0.0 1.20032E-06
25332 29 G/A 31 rs779031787 0.3989 None gnomAD-2.1.1 4.03E-06
25332 29 G/A 31 rs779031787 0.3989 None gnomAD-4.0.0 1.36862E-06
25332 29 G/D 31 rs779031787 0.3989 None gnomAD-2.1.1 4.03E-06
25332 29 G/D 31 rs779031787 0.3989 None gnomAD-4.0.0 1.36862E-06
25332 29 G/S 31 rs750686328 0.3989 None gnomAD-2.1.1 4.03E-06
25332 29 G/S 31 rs750686328 0.3989 None gnomAD-4.0.0 2.05293E-06
25333 30 G/D 32 None 0.6798 None gnomAD-4.0.0 2.40065E-06
25333 30 G/S 32 rs757343393 0.6798 None gnomAD-2.1.1 3.93E-05
25333 30 G/S 32 rs757343393 0.6798 None gnomAD-3.1.2 3.29E-05
25333 30 G/S 32 rs757343393 0.6798 None gnomAD-4.0.0 4.5246E-05
25334 31 S/R 33 None 0.3452 None gnomAD-4.0.0 1.20032E-06
25335 32 E/Q 34 rs1416617749 0.8195 None gnomAD-2.1.1 4.03E-06
25335 32 E/Q 34 rs1416617749 0.8195 None gnomAD-4.0.0 1.59181E-06
25336 33 I/T 35 rs1707608600 0.3103 None gnomAD-3.1.2 6.58E-06
25336 33 I/T 35 rs1707608600 0.3103 None gnomAD-4.0.0 2.56322E-06
25337 34 L/I 36 rs764447275 0.5076 None gnomAD-2.1.1 1.61E-05
25337 34 L/I 36 rs764447275 0.5076 None gnomAD-4.0.0 6.36734E-06
25337 34 L/P 36 None 0.5076 None gnomAD-4.0.0 1.20032E-06
25339 36 Y/C 38 rs1485371555 0.1725 None gnomAD-2.1.1 4.03E-06
25339 36 Y/C 38 rs1485371555 0.1725 None gnomAD-4.0.0 1.36863E-06
25339 36 Y/H 38 rs1183039680 0.1725 None gnomAD-2.1.1 4.03E-06
25339 36 Y/H 38 rs1183039680 0.1725 None gnomAD-4.0.0 1.59186E-06
25340 37 V/D 39 rs200287703 0.2566 None gnomAD-2.1.1 2.21682E-04
25340 37 V/D 39 rs200287703 0.2566 None gnomAD-3.1.2 6.2491E-04
25340 37 V/D 39 rs200287703 0.2566 None 1000 genomes 3.99361E-04
25340 37 V/D 39 rs200287703 0.2566 None gnomAD-4.0.0 1.30157E-04
25340 37 V/I 39 rs1207970602 0.2566 None gnomAD-2.1.1 4.03E-06
25340 37 V/I 39 rs1207970602 0.2566 None gnomAD-3.1.2 6.58E-06
25340 37 V/I 39 rs1207970602 0.2566 None gnomAD-4.0.0 3.84504E-06
25340 37 V/L 39 None 0.2566 None gnomAD-4.0.0 1.59191E-06
25341 38 L/P 40 None 0.1195 None gnomAD-4.0.0 1.59189E-06
25341 38 L/V 40 rs576067412 0.1195 None gnomAD-2.1.1 4.03E-06
25341 38 L/V 40 rs576067412 0.1195 None gnomAD-3.1.2 6.58E-06
25341 38 L/V 40 rs576067412 0.1195 None 1000 genomes 1.99681E-04
25341 38 L/V 40 rs576067412 0.1195 None gnomAD-4.0.0 2.56327E-06
25342 39 E/Q 41 rs762672000 0.1525 None gnomAD-2.1.1 1.21E-05
25342 39 E/Q 41 rs762672000 0.1525 None gnomAD-3.1.2 6.58E-06
25342 39 E/Q 41 rs762672000 0.1525 None gnomAD-4.0.0 3.84524E-06
25343 40 K/E 42 rs727504596 0.2797 None gnomAD-2.1.1 4.03E-06
25343 40 K/E 42 rs727504596 0.2797 None gnomAD-4.0.0 4.7903E-06
25344 41 R/L 43 rs556179271 0.2596 None gnomAD-2.1.1 4.03E-06
25344 41 R/L 43 rs556179271 0.2596 None gnomAD-4.0.0 4.10606E-06
25344 41 R/P 43 rs556179271 0.2596 None gnomAD-2.1.1 4.03E-06
25344 41 R/Q 43 None 0.2596 None gnomAD-2.1.1 1.21E-05
25344 41 R/Q 43 None 0.2596 None gnomAD-3.1.2 3.29E-05
25344 41 R/Q 43 None 0.2596 None 1000 genomes 1.99681E-04
25344 41 R/Q 43 None 0.2596 None gnomAD-4.0.0 1.48754E-05
25344 41 R/W 43 rs371696090 0.2596 None gnomAD-2.1.1 2.01E-05
25344 41 R/W 43 rs371696090 0.2596 None gnomAD-3.1.2 6.58E-06
25344 41 R/W 43 rs371696090 0.2596 None gnomAD-4.0.0 6.81864E-06
25345 42 D/N 44 rs776220122 0.2049 None gnomAD-2.1.1 8.05E-06
25345 42 D/N 44 rs776220122 0.2049 None gnomAD-3.1.2 1.32E-05
25345 42 D/N 44 rs776220122 0.2049 None gnomAD-4.0.0 3.84517E-06
25347 44 E/D 54 rs1310471153 0.9274 None gnomAD-2.1.1 8.05E-06
25347 44 E/D 54 rs1310471153 0.9274 None gnomAD-4.0.0 8.21205E-06
25348 45 G/D 60 None 0.2796 None gnomAD-4.0.0 6.84352E-07
25348 45 G/V 60 None 0.2796 None gnomAD-4.0.0 6.84352E-07
25349 46 I/V 63 None 1.1364 None gnomAD-4.0.0 1.20032E-06
25351 48 W/C 65 rs1195746912 0.2444 None gnomAD-4.0.0 1.59205E-06
25351 48 W/R 65 rs201839118 0.2444 None gnomAD-2.1.1 4.65E-05
25351 48 W/R 65 rs201839118 0.2444 None gnomAD-3.1.2 5.26E-05
25351 48 W/R 65 rs201839118 0.2444 None gnomAD-4.0.0 1.28926E-04
25352 49 T/R 66 rs1318162597 0.4785 None gnomAD-2.1.1 4.03E-06
25352 49 T/R 66 rs1318162597 0.4785 None gnomAD-4.0.0 4.7762E-06
25352 49 T/S 66 None 0.4785 None gnomAD-4.0.0 1.20032E-06
25353 50 R/G 67 None 0.5449 None gnomAD-4.0.0 1.20032E-06
25353 50 R/K 67 None 0.5449 None gnomAD-4.0.0 1.5921E-06
25355 52 H/R 69 rs1399292028 0.5353 None gnomAD-2.1.1 4.03E-06
25355 52 H/R 69 rs1399292028 0.5353 None gnomAD-3.1.2 6.57E-06
25355 52 H/R 69 rs1399292028 0.5353 None gnomAD-4.0.0 3.84518E-06
25356 53 K/T 70 rs765495476 1.0571 None gnomAD-4.0.0 1.20032E-06
25357 54 R/C 72 rs145437410 0.8369 None gnomAD-2.1.1 3.22E-05
25357 54 R/C 72 rs145437410 0.8369 None gnomAD-3.1.2 6.58E-06
25357 54 R/C 72 rs145437410 0.8369 None 1000 genomes 1.99681E-04
25357 54 R/C 72 rs145437410 0.8369 None gnomAD-4.0.0 2.54132E-05
25357 54 R/H 72 rs397517703 0.8369 None gnomAD-2.1.1 3.22E-05
25357 54 R/H 72 rs397517703 0.8369 None gnomAD-3.1.2 1.97E-05
25357 54 R/H 72 rs397517703 0.8369 None gnomAD-4.0.0 1.79761E-05
25357 54 R/P 72 None 0.8369 None gnomAD-4.0.0 6.84363E-07
25358 55 L/V 75 None 0.3341 None gnomAD-4.0.0 1.59212E-06
25359 56 I/N 77 None 0.1491 None gnomAD-4.0.0 6.84349E-07
25359 56 I/T 77 rs779076165 0.1491 None gnomAD-2.1.1 1.21E-05
25359 56 I/T 77 rs779076165 0.1491 None gnomAD-4.0.0 4.1061E-06
25360 57 G/E 83 rs1158176682 0.5929 None gnomAD-3.1.2 6.58E-06
25360 57 G/E 83 rs1158176682 0.5929 None gnomAD-4.0.0 6.57583E-06
25360 57 G/R 83 None 0.5929 None gnomAD-4.0.0 1.20032E-06
25362 59 L/F 89 None 0.2303 None gnomAD-4.0.0 1.20032E-06
25362 59 L/V 89 rs1409589701 0.2303 None gnomAD-3.1.2 6.58E-06
25362 59 L/V 89 rs1409589701 0.2303 None gnomAD-4.0.0 6.58354E-06
25363 60 R/C 90 rs757511354 0.5649 None gnomAD-2.1.1 1.21E-05
25363 60 R/C 90 rs757511354 0.5649 None gnomAD-3.1.2 1.32E-05
25363 60 R/C 90 rs757511354 0.5649 None gnomAD-4.0.0 2.85157E-05
25363 60 R/H 90 rs749274818 0.5649 None gnomAD-2.1.1 2.51E-05
25363 60 R/H 90 rs749274818 0.5649 None gnomAD-3.1.2 2.63E-05
25363 60 R/H 90 rs749274818 0.5649 None gnomAD-4.0.0 2.54158E-05
25363 60 R/L 90 None 0.5649 None gnomAD-4.0.0 6.84396E-07
25363 60 R/S 90 None 0.5649 None gnomAD-4.0.0 1.36879E-06
25364 61 L/P 91 rs1707567452 0.2510 None gnomAD-4.0.0 1.59225E-06
25365 62 R/G 92 None 0.5399 None gnomAD-4.0.0 1.59223E-06
25365 62 R/K 92 None 0.5399 None gnomAD-4.0.0 1.20032E-06
25366 63 V/I 93 None 0.1963 None gnomAD-4.0.0 1.20032E-06
25366 63 V/L 93 rs571834965 0.1963 None gnomAD-2.1.1 4.03E-06
25366 63 V/L 93 rs571834965 0.1963 None gnomAD-3.1.2 6.58E-06
25366 63 V/L 93 rs571834965 0.1963 None 1000 genomes 1.99681E-04
25366 63 V/L 93 rs571834965 0.1963 None gnomAD-4.0.0 2.02984E-06
25367 64 T/I 94 rs756655305 0.5878 None gnomAD-2.1.1 1.21E-05
25367 64 T/I 94 rs756655305 0.5878 None gnomAD-4.0.0 1.11467E-05
25367 64 T/N 94 None 0.5878 None gnomAD-4.0.0 1.59239E-06
25368 65 G/R 96 rs551988703 0.5127 None gnomAD-3.1.2 6.58E-06
25368 65 G/R 96 rs551988703 0.5127 None 1000 genomes 1.99681E-04
25368 65 G/R 96 rs551988703 0.5127 None gnomAD-4.0.0 2.40064E-06
25368 65 G/V 96 rs753304499 0.5127 None gnomAD-2.1.1 4.03E-06
25368 65 G/V 96 rs753304499 0.5127 None gnomAD-4.0.0 1.59238E-06
25370 67 I/L 98 rs751411453 0.4732 None gnomAD-2.1.1 4.04E-06
25370 67 I/L 98 rs751411453 0.4732 None gnomAD-4.0.0 1.59254E-06
25370 67 I/T 98 rs764131874 0.4732 None gnomAD-2.1.1 4.04E-06
25370 67 I/T 98 rs764131874 0.4732 None gnomAD-4.0.0 6.84439E-06
25371 68 E/A 99 None 0.4866 None gnomAD-4.0.0 6.84443E-07
25371 68 E/K 99 rs755460020 0.4866 None gnomAD-2.1.1 4.04E-06
25371 68 E/K 99 rs755460020 0.4866 None gnomAD-4.0.0 3.18516E-06
25371 68 E/Q 99 None 0.4866 None gnomAD-4.0.0 1.59258E-06
25372 69 N/S 100 None 0.6178 None gnomAD-4.0.0 1.36893E-06
25373 70 H/Q 102 rs764739209 0.3937 None gnomAD-2.1.1 4.04E-06
25373 70 H/Q 102 rs764739209 0.3937 None gnomAD-4.0.0 3.4227E-06
25374 71 D/G 103 None 0.2414 None gnomAD-4.0.0 1.20032E-06
25374 71 D/H 103 None 0.2414 None gnomAD-4.0.0 6.84549E-07
25374 71 D/N 103 rs368715583 0.2414 None gnomAD-2.1.1 1.21E-05
25374 71 D/N 103 rs368715583 0.2414 None gnomAD-3.1.2 6.58E-06
25374 71 D/N 103 rs368715583 0.2414 None gnomAD-4.0.0 1.11604E-05
25375 72 Y/F 104 rs374494927 0.1507 None gnomAD-2.1.1 3.23E-05
25375 72 Y/F 104 rs374494927 0.1507 None gnomAD-3.1.2 6.58E-06
25375 72 Y/F 104 rs374494927 0.1507 None gnomAD-4.0.0 8.05959E-06
25379 76 V/I 108 None 0.0975 None gnomAD-4.0.0 1.20032E-06
25381 78 A/T 110 rs763636099 0.1285 None gnomAD-2.1.1 8.09E-06
25381 78 A/T 110 rs763636099 0.1285 None gnomAD-3.1.2 6.58E-06
25381 78 A/T 110 rs763636099 0.1285 None gnomAD-4.0.0 4.96216E-06
25384 81 A/T 113 None 0.6085 None gnomAD-4.0.0 2.73967E-06
25387 84 L/F 117 rs879225322 0.4944 None gnomAD-3.1.2 1.32E-05
25387 84 L/F 117 rs879225322 0.4944 None gnomAD-4.0.0 4.3417E-06
25387 84 L/I 117 None 0.4944 None gnomAD-4.0.0 6.84812E-07
25388 85 S/R 118 rs1707543874 0.1423 None gnomAD-4.0.0 1.20032E-06
25388 85 S/T 118 None 0.1423 None gnomAD-4.0.0 7.20193E-06
25389 86 E/D 119 rs371435213 0.6755 None gnomAD-2.1.1 4.05E-06
25389 86 E/D 119 rs371435213 0.6755 None gnomAD-3.1.2 6.58E-06
25389 86 E/D 119 rs371435213 0.6755 None gnomAD-4.0.0 6.57834E-06
25389 86 E/G 119 None 0.6755 None gnomAD-4.0.0 1.59487E-06
25389 86 E/K 119 None 0.6755 None gnomAD-4.0.0 1.59537E-06
25390 87 P/L 120 rs775467614 0.4248 None gnomAD-2.1.1 8.1E-06
25390 87 P/L 120 rs775467614 0.4248 None gnomAD-4.0.0 3.19006E-06
25390 87 P/S 120 rs878948198 0.4248 None gnomAD-2.1.1 1.21E-05
25390 87 P/S 120 rs878948198 0.4248 None gnomAD-3.1.2 1.32E-05
25390 87 P/S 120 rs878948198 0.4248 None gnomAD-4.0.0 5.08679E-05
25390 87 P/T 120 None 0.4248 None gnomAD-4.0.0 2.05472E-06
25391 88 S/I 121 None 0.1404 None gnomAD-4.0.0 1.59509E-06
25391 88 S/R 121 None 0.1404 None gnomAD-4.0.0 6.84885E-07
25392 89 P/H 122 None 0.5172 None gnomAD-4.0.0 1.20032E-06
25393 90 P/S 123 rs1005590673 0.4571 None gnomAD-4.0.0 3.18885E-06
25395 92 A/V 125 rs1311650365 0.5578 None gnomAD-3.1.2 6.58E-06
25395 92 A/V 125 rs1311650365 0.5578 None gnomAD-4.0.0 6.578E-06
25396 93 Y/D 126 rs771853872 0.3780 None gnomAD-2.1.1 4.04E-06
25396 93 Y/D 126 rs771853872 0.3780 None gnomAD-4.0.0 1.59362E-06
25398 95 K/M 129 None 0.3928 None gnomAD-4.0.0 1.5933E-06
25398 95 K/R 129 rs1467808986 0.3928 None gnomAD-2.1.1 4.04E-06
25398 95 K/R 129 rs1467808986 0.3928 None gnomAD-4.0.0 1.5933E-06
25399 96 A/P 130 rs1179236670 0.6206 None gnomAD-2.1.1 3.19E-05
25399 96 A/P 130 rs1179236670 0.6206 None gnomAD-3.1.2 6.58E-06
25399 96 A/P 130 rs1179236670 0.6206 None gnomAD-4.0.0 6.57947E-06
25399 96 A/T 130 None 0.6206 None gnomAD-4.0.0 1.20032E-06
25399 96 A/V 130 rs1418217582 0.6206 None gnomAD-2.1.1 3.19E-05
25399 96 A/V 130 rs1418217582 0.6206 None gnomAD-3.1.2 6.58E-06
25399 96 A/V 130 rs1418217582 0.6206 None gnomAD-4.0.0 6.57652E-06
25400 97 C/R 131 rs1575727915 1.0700 None gnomAD-4.0.0 1.59287E-06
25400 97 C/S 131 rs397517704 1.0700 None gnomAD-2.1.1 3.19E-05
25400 97 C/S 131 rs397517704 1.0700 None gnomAD-3.1.2 6.58E-06
25400 97 C/S 131 rs397517704 1.0700 None gnomAD-4.0.0 1.05401E-05
25400 97 C/W 131 None 1.0700 None gnomAD-4.0.0 6.37135E-06
25401 98 D/E 132 None 1.1045 None gnomAD-4.0.0 1.59274E-06
25401 98 D/V 132 rs1559385033 1.1045 None gnomAD-2.1.1 4.04E-06
25401 98 D/V 132 rs1559385033 1.1045 None gnomAD-4.0.0 3.18564E-06