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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27469 1 P/A 1 rs769678793 0.3560 None gnomAD-2.1.1 6.43E-05
27469 1 P/A 1 rs769678793 0.3560 None gnomAD-3.1.2 1.97E-05
27469 1 P/A 1 rs769678793 0.3560 None gnomAD-4.0.0 9.91514E-06
27469 1 P/R 1 None 0.3560 None gnomAD-4.0.0 1.59127E-06
27470 2 P/T 2 rs886055239 0.1878 None gnomAD-2.1.1 8.04E-06
27470 2 P/T 2 rs886055239 0.1878 None gnomAD-3.1.2 6.58E-06
27470 2 P/T 2 rs886055239 0.1878 None gnomAD-4.0.0 4.33812E-06
27471 3 G/C 3 None 0.2659 None gnomAD-4.0.0 1.36841E-06
27471 3 G/S 3 rs757130634 0.2659 None gnomAD-4.0.0 8.21048E-06
27472 4 P/L 4 rs747864468 0.4456 None gnomAD-2.1.1 7.14E-06
27472 4 P/L 4 rs747864468 0.4456 None gnomAD-3.1.2 1.31E-05
27472 4 P/L 4 rs747864468 0.4456 None gnomAD-4.0.0 3.09857E-06
27472 4 P/R 4 None 0.4456 None gnomAD-4.0.0 6.84205E-07
27474 6 S/L 6 rs781507920 0.2611 None gnomAD-2.1.1 4.02E-06
27475 7 T/I 7 None 0.3760 None gnomAD-4.0.0 6.84201E-07
27475 7 T/K 7 rs377169807 0.3760 None gnomAD-2.1.1 1.61E-05
27475 7 T/K 7 rs377169807 0.3760 None gnomAD-3.1.2 2.63E-05
27475 7 T/K 7 rs377169807 0.3760 None gnomAD-4.0.0 4.95767E-05
27476 8 P/R 9 rs2154161598 0.1508 None gnomAD-4.0.0 1.20032E-06
27476 8 P/S 9 None 0.1508 None gnomAD-4.0.0 1.20032E-06
27477 9 E/D 11 None 0.7445 None gnomAD-4.0.0 1.59118E-06
27477 9 E/G 11 rs1184828155 0.7445 None gnomAD-2.1.1 4.02E-06
27477 9 E/G 11 rs1184828155 0.7445 None gnomAD-4.0.0 1.59122E-06
27479 11 S/P 13 rs1704559289 0.4164 None gnomAD-4.0.0 1.59123E-06
27480 12 A/P 14 rs1457913909 0.4524 None gnomAD-4.0.0 1.20032E-06
27481 13 I/F 15 rs780039092 0.3951 None gnomAD-2.1.1 4.02E-06
27481 13 I/F 15 rs780039092 0.3951 None gnomAD-3.1.2 3.29E-05
27481 13 I/F 15 rs780039092 0.3951 None gnomAD-4.0.0 3.28692E-05
27481 13 I/V 15 rs780039092 0.3951 None gnomAD-2.1.1 4.02E-06
27481 13 I/V 15 rs780039092 0.3951 None gnomAD-4.0.0 1.59122E-06
27482 14 T/I 16 None 0.3661 None gnomAD-4.0.0 1.20032E-06
27483 15 K/Q 17 rs188940525 0.5933 None gnomAD-3.1.2 6.57E-06
27483 15 K/Q 17 rs188940525 0.5933 None 1000 genomes 1.99681E-04
27483 15 K/Q 17 rs188940525 0.5933 None gnomAD-4.0.0 4.95733E-06
27483 15 K/R 17 rs937111656 0.5933 None gnomAD-3.1.2 6.58E-06
27483 15 K/R 17 rs937111656 0.5933 None gnomAD-4.0.0 4.33812E-06
27483 15 K/T 17 None 0.5933 None gnomAD-4.0.0 2.05263E-06
27484 16 D/N 18 rs1444267232 0.4648 None gnomAD-2.1.1 4.02E-06
27484 16 D/N 18 rs1444267232 0.4648 None gnomAD-4.0.0 1.59124E-06
27485 17 S/Y 19 None 0.1409 None gnomAD-4.0.0 1.20032E-06
27486 18 M/L 20 None 0.1314 None gnomAD-4.0.0 1.59122E-06
27486 18 M/T 20 rs746435098 0.1314 None gnomAD-2.1.1 1.21E-05
27486 18 M/T 20 rs746435098 0.1314 None gnomAD-3.1.2 6.58E-06
27486 18 M/T 20 rs746435098 0.1314 None gnomAD-4.0.0 2.3549E-05
27487 19 V/A 21 rs779268775 0.2528 None gnomAD-2.1.1 4.02E-06
27488 20 V/I 22 rs1704546804 0.0934 None gnomAD-4.0.0 2.18942E-05
27488 20 V/L 22 None 0.0934 None gnomAD-4.0.0 6.84195E-07
27489 21 T/I 23 None 0.3326 None gnomAD-4.0.0 1.59119E-06
27490 22 W/R 24 rs757683923 0.1329 None gnomAD-2.1.1 8.04E-06
27490 22 W/R 24 rs757683923 0.1329 None gnomAD-3.1.2 6.58E-06
27490 22 W/R 24 rs757683923 0.1329 None gnomAD-4.0.0 2.73679E-06
27490 22 W/S 24 None 0.1329 None gnomAD-4.0.0 1.59121E-06
27491 23 A/S 25 rs370087858 0.3719 None gnomAD-2.1.1 1.21E-05
27491 23 A/S 25 rs370087858 0.3719 None gnomAD-4.0.0 2.87363E-05
27491 23 A/V 25 None 0.3719 None gnomAD-4.0.0 4.77354E-06
27492 24 R/C 26 rs767221784 0.5127 None gnomAD-2.1.1 2.85E-05
27492 24 R/C 26 rs767221784 0.5127 None gnomAD-3.1.2 3.29E-05
27492 24 R/C 26 rs767221784 0.5127 None gnomAD-4.0.0 1.73528E-05
27492 24 R/G 26 None 0.5127 None gnomAD-4.0.0 6.84197E-07
27492 24 R/H 26 rs375752919 0.5127 None gnomAD-2.1.1 1.21E-05
27492 24 R/H 26 rs375752919 0.5127 None gnomAD-4.0.0 6.15777E-06
27494 26 V/A 28 rs563168332 1.1364 None gnomAD-2.1.1 4.02E-06
27494 26 V/A 28 rs563168332 1.1364 None gnomAD-3.1.2 6.58E-06
27494 26 V/A 28 rs563168332 1.1364 None 1000 genomes 1.99681E-04
27494 26 V/A 28 rs563168332 1.1364 None gnomAD-4.0.0 6.57022E-06
27496 28 D/A 30 None 0.4264 None gnomAD-4.0.0 1.20032E-06
27496 28 D/E 30 None 0.4264 None gnomAD-4.0.0 6.84199E-07
27496 28 D/G 30 rs1466312104 0.4264 None gnomAD-4.0.0 1.20032E-06
27496 28 D/N 30 rs554231442 0.4264 None gnomAD-2.1.1 4.78138E-04
27496 28 D/N 30 rs554231442 0.4264 None gnomAD-3.1.2 2.49872E-04
27496 28 D/N 30 rs554231442 0.4264 None 1000 genomes 9.98403E-04
27496 28 D/N 30 rs554231442 0.4264 None gnomAD-4.0.0 2.85049E-04
27497 29 G/E 31 None 0.1020 None gnomAD-4.0.0 1.20032E-06
27497 29 G/R 31 rs201158906 0.1020 None gnomAD-2.1.1 1.6164E-03
27497 29 G/R 31 rs201158906 0.1020 None gnomAD-3.1.2 1.32834E-03
27497 29 G/R 31 rs201158906 0.1020 None 1000 genomes 1.99681E-04
27497 29 G/R 31 rs201158906 0.1020 None gnomAD-4.0.0 1.2976E-03
27498 30 G/D 32 rs1417591772 0.3415 None gnomAD-3.1.2 6.58E-06
27498 30 G/D 32 rs1417591772 0.3415 None gnomAD-4.0.0 8.67625E-06
27498 30 G/S 32 rs1458136255 0.3415 None gnomAD-2.1.1 1.61E-05
27498 30 G/S 32 rs1458136255 0.3415 None gnomAD-3.1.2 1.97E-05
27498 30 G/S 32 rs1458136255 0.3415 None gnomAD-4.0.0 6.81696E-06
27499 31 T/S 33 rs1366798233 0.2601 None gnomAD-3.1.2 6.57E-06
27499 31 T/S 33 rs1366798233 0.2601 None gnomAD-4.0.0 1.23941E-05
27500 32 E/A 34 None 0.9579 None gnomAD-4.0.0 1.59122E-06
27500 32 E/K 34 rs375422359 0.9579 None gnomAD-2.1.1 2.41E-05
27500 32 E/K 34 rs375422359 0.9579 None gnomAD-3.1.2 3.29E-05
27500 32 E/K 34 rs375422359 0.9579 None gnomAD-4.0.0 1.1155E-05
27501 33 I/M 35 rs768922879 0.2418 None gnomAD-2.1.1 4.02E-06
27501 33 I/M 35 rs768922879 0.2418 None gnomAD-3.1.2 6.58E-06
27501 33 I/M 35 rs768922879 0.2418 None gnomAD-4.0.0 6.5786E-06
27501 33 I/T 35 None 0.2418 None gnomAD-4.0.0 1.59124E-06
27502 34 E/A 36 None 0.5690 None gnomAD-4.0.0 1.20032E-06
27503 35 G/A 37 rs1192596225 0.1350 None gnomAD-2.1.1 4.02E-06
27503 35 G/A 37 rs1192596225 0.1350 None gnomAD-4.0.0 1.23156E-05
27503 35 G/C 37 None 0.1350 None gnomAD-4.0.0 1.59122E-06
27503 35 G/D 37 None 0.1350 None gnomAD-4.0.0 6.15779E-06
27505 37 I/V 39 rs1270467286 0.3149 None gnomAD-4.0.0 3.60098E-06
27507 39 E/D 41 None 0.1479 None gnomAD-4.0.0 1.36841E-06
27508 40 K/N 42 rs766900644 0.2289 None gnomAD-2.1.1 4.02E-06
27508 40 K/N 42 rs766900644 0.2289 None gnomAD-3.1.2 6.58E-06
27508 40 K/N 42 rs766900644 0.2289 None gnomAD-4.0.0 2.4789E-06
27509 41 R/P 43 rs1246168127 0.2619 None gnomAD-3.1.2 6.58E-06
27509 41 R/P 43 rs1246168127 0.2619 None gnomAD-4.0.0 6.57601E-06
27509 41 R/Q 43 rs1246168127 0.2619 None gnomAD-2.1.1 3.62E-05
27509 41 R/Q 43 rs1246168127 0.2619 None gnomAD-4.0.0 6.15789E-06
27510 42 D/G 44 rs747295333 0.1959 None gnomAD-2.1.1 4.02E-06
27510 42 D/G 44 rs747295333 0.1959 None gnomAD-4.0.0 1.59125E-06
27510 42 D/N 44 None 0.1959 None gnomAD-4.0.0 1.59126E-06
27512 44 E/A 54 None 0.7267 None gnomAD-4.0.0 1.59126E-06
27512 44 E/K 54 None 0.7267 None gnomAD-4.0.0 1.20032E-06
27513 45 G/R 60 rs957555800 0.2909 None gnomAD-2.1.1 4.02E-06
27513 45 G/R 60 rs957555800 0.2909 None gnomAD-4.0.0 1.36843E-06
27513 45 G/S 60 None 0.2909 None gnomAD-4.0.0 6.84215E-07
27513 45 G/V 60 rs1704505707 0.2909 None gnomAD-3.1.2 6.57E-06
27513 45 G/V 60 rs1704505707 0.2909 None gnomAD-4.0.0 6.57402E-06
27514 46 V/F 63 rs745920301 1.1231 None gnomAD-2.1.1 4.02E-06
27514 46 V/F 63 rs745920301 1.1231 None gnomAD-4.0.0 6.84211E-07
27514 46 V/I 63 rs745920301 1.1231 None gnomAD-2.1.1 1.78E-05
27514 46 V/I 63 rs745920301 1.1231 None gnomAD-3.1.2 4.6E-05
27514 46 V/I 63 rs745920301 1.1231 None gnomAD-4.0.0 2.10689E-05
27515 47 R/T 64 rs757660615 0.7910 None gnomAD-2.1.1 1.21E-05
27515 47 R/T 64 rs757660615 0.7910 None gnomAD-4.0.0 7.95651E-06
27516 48 W/R 65 rs749677127 0.2382 None gnomAD-2.1.1 4.02E-06
27516 48 W/R 65 rs749677127 0.2382 None gnomAD-4.0.0 1.20032E-06
27517 49 T/I 66 rs1559321324 0.4679 None gnomAD-2.1.1 4.02E-06
27517 49 T/I 66 rs1559321324 0.4679 None gnomAD-4.0.0 1.36843E-06
27517 49 T/N 66 None 0.4679 None gnomAD-4.0.0 2.73685E-06
27518 50 K/N 67 None 0.3209 None gnomAD-4.0.0 1.36842E-06
27519 51 C/R 68 rs756544826 0.2340 None gnomAD-2.1.1 4.02E-06
27519 51 C/R 68 rs756544826 0.2340 None gnomAD-4.0.0 1.59126E-06
27519 51 C/S 68 rs756544826 0.2340 None gnomAD-2.1.1 4.02E-06
27519 51 C/S 68 rs756544826 0.2340 None gnomAD-4.0.0 3.18251E-06
27519 51 C/Y 68 rs1186845754 0.2340 None gnomAD-2.1.1 3.19E-05
27519 51 C/Y 68 rs1186845754 0.2340 None gnomAD-3.1.2 1.31E-05
27519 51 C/Y 68 rs1186845754 0.2340 None gnomAD-4.0.0 1.31473E-05
27520 52 N/D 69 None 0.1888 None gnomAD-4.0.0 1.36842E-06
27520 52 N/K 69 rs56264840 0.1888 None gnomAD-2.1.1 3.30797E-03
27520 52 N/K 69 rs56264840 0.1888 None gnomAD-3.1.2 1.72212E-03
27520 52 N/K 69 rs56264840 0.1888 None 1000 genomes 5.79073E-03
27520 52 N/K 69 rs56264840 0.1888 None gnomAD-4.0.0 2.11365E-03
27520 52 N/S 69 None 0.1888 None gnomAD-4.0.0 2.05263E-06
27520 52 N/T 69 None 0.1888 None gnomAD-4.0.0 6.84209E-07
27521 53 K/E 70 rs1060500417 1.0854 None gnomAD-2.1.1 8.04E-06
27521 53 K/E 70 rs1060500417 1.0854 None gnomAD-4.0.0 3.18249E-06
27522 54 K/N 72 None 0.9310 None gnomAD-4.0.0 2.40064E-06
27523 55 T/K 75 None 0.8003 None gnomAD-4.0.0 1.20032E-06
27525 57 T/M 83 rs1321989289 0.6395 None gnomAD-2.1.1 4.02E-06
27525 57 T/M 83 rs1321989289 0.6395 None gnomAD-4.0.0 4.78947E-06
27527 59 L/P 89 rs202169004 0.2144 None gnomAD-2.1.1 4.02E-06
27527 59 L/P 89 rs202169004 0.2144 None gnomAD-4.0.0 1.43215E-05
27528 60 R/Q 90 rs765230578 0.6303 None gnomAD-2.1.1 1.21E-05
27528 60 R/Q 90 rs765230578 0.6303 None gnomAD-3.1.2 2.63E-05
27528 60 R/Q 90 rs765230578 0.6303 None gnomAD-4.0.0 1.61126E-05
27528 60 R/W 90 rs749852593 0.6303 None gnomAD-2.1.1 3.22E-05
27528 60 R/W 90 rs749852593 0.6303 None gnomAD-3.1.2 1.97E-05
27528 60 R/W 90 rs749852593 0.6303 None gnomAD-4.0.0 2.29299E-05
27530 62 R/K 92 None 0.5413 None gnomAD-4.0.0 1.20032E-06
27530 62 R/T 92 None 0.5413 None gnomAD-4.0.0 2.40064E-06
27531 63 V/I 93 rs1190495036 0.1718 None gnomAD-3.1.2 6.57E-06
27531 63 V/I 93 rs1190495036 0.1718 None gnomAD-4.0.0 2.56227E-06
27531 63 V/L 93 rs1190495036 0.1718 None gnomAD-2.1.1 7.14E-06
27531 63 V/L 93 rs1190495036 0.1718 None gnomAD-3.1.2 6.57E-06
27531 63 V/L 93 rs1190495036 0.1718 None gnomAD-4.0.0 2.56227E-06
27532 64 T/I 94 rs763850217 0.5964 None gnomAD-2.1.1 1.21E-05
27532 64 T/I 94 rs763850217 0.5964 None gnomAD-3.1.2 6.57E-06
27532 64 T/I 94 rs763850217 0.5964 None gnomAD-4.0.0 5.5774E-06
27532 64 T/S 94 rs763850217 0.5964 None gnomAD-2.1.1 4.02E-06
27532 64 T/S 94 rs763850217 0.5964 None gnomAD-4.0.0 1.36843E-06
27533 65 G/S 96 rs1704471479 0.4739 None gnomAD-4.0.0 4.1053E-06
27534 66 L/F 97 rs1219137799 0.1554 None gnomAD-2.1.1 4.02E-06
27534 66 L/F 97 rs1219137799 0.1554 None gnomAD-4.0.0 1.59129E-06
27534 66 L/P 97 rs1704468647 0.1554 None gnomAD-3.1.2 6.57E-06
27534 66 L/P 97 rs1704468647 0.1554 None gnomAD-4.0.0 6.57272E-06
27535 67 T/A 98 rs775733174 0.3944 None gnomAD-2.1.1 4.02E-06
27535 67 T/A 98 rs775733174 0.3944 None gnomAD-4.0.0 1.36843E-06
27535 67 T/I 98 None 0.3944 None gnomAD-4.0.0 1.59127E-06
27536 68 E/K 99 rs745974517 0.5987 None gnomAD-2.1.1 3.62E-05
27536 68 E/K 99 rs745974517 0.5987 None gnomAD-4.0.0 1.09474E-05
27537 69 G/A 100 rs555055615 0.3414 None gnomAD-2.1.1 4.02E-06
27537 69 G/A 100 rs555055615 0.3414 None gnomAD-3.1.2 6.57E-06
27537 69 G/A 100 rs555055615 0.3414 None 1000 genomes 1.99681E-04
27537 69 G/A 100 rs555055615 0.3414 None gnomAD-4.0.0 6.56927E-06
27537 69 G/D 100 rs555055615 0.3414 None gnomAD-2.1.1 8.04E-06
27537 69 G/D 100 rs555055615 0.3414 None gnomAD-4.0.0 6.36511E-06
27538 70 H/L 102 rs878933739 0.4374 None gnomAD-2.1.1 4.02E-06
27538 70 H/L 102 rs878933739 0.4374 None gnomAD-3.1.2 1.97E-05
27538 70 H/L 102 rs878933739 0.4374 None gnomAD-4.0.0 1.97169E-05
27538 70 H/R 102 rs878933739 0.4374 None gnomAD-3.1.2 6.57E-06
27538 70 H/R 102 rs878933739 0.4374 None gnomAD-4.0.0 2.02991E-06
27539 71 S/C 103 rs727503556 0.1998 None gnomAD-2.1.1 1.21E-05
27539 71 S/C 103 rs727503556 0.1998 None gnomAD-3.1.2 1.31E-05
27539 71 S/C 103 rs727503556 0.1998 None gnomAD-4.0.0 4.9577E-06
27539 71 S/T 103 None 0.1998 None gnomAD-4.0.0 1.20032E-06
27540 72 Y/C 104 rs913135593 0.1235 None gnomAD-2.1.1 4.02E-06
27540 72 Y/C 104 rs913135593 0.1235 None gnomAD-3.1.2 6.57E-06
27540 72 Y/C 104 rs913135593 0.1235 None gnomAD-4.0.0 3.84341E-06
27542 74 F/I 106 rs1704452293 0.1235 None gnomAD-4.0.0 2.05262E-06
27543 75 R/T 107 None 0.2030 None gnomAD-4.0.0 1.20032E-06
27545 77 A/T 109 rs770320388 0.1296 None gnomAD-2.1.1 4.02E-06
27545 77 A/T 109 rs770320388 0.1296 None gnomAD-4.0.0 1.59126E-06
27546 78 A/G 110 None 0.1243 None gnomAD-4.0.0 1.59131E-06
27546 78 A/T 110 rs748482268 0.1243 None gnomAD-2.1.1 4.02E-06
27546 78 A/T 110 rs748482268 0.1243 None gnomAD-4.0.0 3.18254E-06
27547 79 E/K 111 rs779874042 0.3887 None gnomAD-2.1.1 2.01E-05
27547 79 E/K 111 rs779874042 0.3887 None gnomAD-4.0.0 1.02633E-05
27549 81 A/E 113 rs749950083 0.5576 None gnomAD-2.1.1 4.02E-06
27549 81 A/V 113 rs749950083 0.5576 None gnomAD-2.1.1 3.19E-05
27549 81 A/V 113 rs749950083 0.5576 None gnomAD-3.1.2 6.58E-06
27549 81 A/V 113 rs749950083 0.5576 None gnomAD-4.0.0 3.84376E-06
27550 82 A/T 114 rs778350547 0.3607 None gnomAD-2.1.1 4.42E-05
27550 82 A/T 114 rs778350547 0.3607 None gnomAD-4.0.0 1.59135E-05
27552 84 V/G 117 rs1215140042 0.5133 None gnomAD-4.0.0 1.5914E-06
27552 84 V/M 117 rs368730078 0.5133 None gnomAD-2.1.1 1.07E-05
27552 84 V/M 117 rs368730078 0.5133 None gnomAD-3.1.2 2.63E-05
27552 84 V/M 117 rs368730078 0.5133 None gnomAD-4.0.0 7.6876E-06
27553 85 G/A 118 rs753766297 0.2349 None gnomAD-2.1.1 4.02E-06
27553 85 G/A 118 rs753766297 0.2349 None gnomAD-4.0.0 6.84239E-07
27553 85 G/E 118 None 0.2349 None gnomAD-4.0.0 6.84239E-07
27554 86 E/K 119 None 0.6147 None gnomAD-4.0.0 1.36848E-06
27554 86 E/Q 119 None 0.6147 None gnomAD-4.0.0 6.8424E-07
27555 87 P/A 120 None 0.4245 None gnomAD-4.0.0 6.84248E-07
27555 87 P/L 120 rs1704434305 0.4245 None gnomAD-4.0.0 1.59147E-06
27555 87 P/S 120 rs1704435200 0.4245 None gnomAD-3.1.2 1.32E-05
27555 87 P/S 120 rs1704435200 0.4245 None gnomAD-4.0.0 3.09888E-06
27556 88 S/G 121 rs1181121628 0.1192 None gnomAD-2.1.1 4.03E-06
27556 88 S/G 121 rs1181121628 0.1192 None gnomAD-4.0.0 1.36851E-06
27557 89 E/D 122 rs1276281571 0.6554 None gnomAD-3.1.2 6.58E-06
27557 89 E/D 122 rs1276281571 0.6554 None gnomAD-4.0.0 6.57505E-06
27557 89 E/G 122 rs1704429643 0.6554 None gnomAD-3.1.2 6.58E-06
27557 89 E/G 122 rs1704429643 0.6554 None gnomAD-4.0.0 6.57774E-06
27557 89 E/K 122 rs1481869771 0.6554 None gnomAD-2.1.1 4.02E-06
27557 89 E/K 122 rs1481869771 0.6554 None gnomAD-3.1.2 6.58E-06
27557 89 E/K 122 rs1481869771 0.6554 None gnomAD-4.0.0 6.40705E-06
27559 91 S/C 124 rs763989757 0.1399 None gnomAD-2.1.1 4.03E-06
27559 91 S/C 124 rs763989757 0.1399 None gnomAD-3.1.2 1.97E-05
27559 91 S/C 124 rs763989757 0.1399 None gnomAD-4.0.0 5.12563E-06
27559 91 S/F 124 rs763989757 0.1399 None gnomAD-2.1.1 4.03E-06
27559 91 S/F 124 rs763989757 0.1399 None gnomAD-4.0.0 1.59153E-06
27559 91 S/P 124 None 0.1399 None gnomAD-4.0.0 2.40064E-06
27560 92 V/I 125 rs937165329 0.6206 None gnomAD-2.1.1 3.19E-05
27560 92 V/I 125 rs937165329 0.6206 None gnomAD-3.1.2 1.97E-05
27560 92 V/I 125 rs937165329 0.6206 None gnomAD-4.0.0 1.97293E-05
27560 92 V/L 125 rs937165329 0.6206 None gnomAD-4.0.0 1.59146E-06
27561 93 F/S 126 None 0.2918 None gnomAD-4.0.0 1.59145E-06
27562 94 Y/H 127 rs376616067 0.3241 None gnomAD-2.1.1 1.00102E-04
27562 94 Y/H 127 rs376616067 0.3241 None gnomAD-3.1.2 3.15657E-04
27562 94 Y/H 127 rs376616067 0.3241 None 1000 genomes 1.99681E-04
27562 94 Y/H 127 rs376616067 0.3241 None gnomAD-4.0.0 5.94933E-05
27563 95 R/C 129 rs72648214 0.6138 None gnomAD-2.1.1 3.22E-05
27563 95 R/C 129 rs72648214 0.6138 None gnomAD-3.1.2 1.32E-05
27563 95 R/C 129 rs72648214 0.6138 None gnomAD-4.0.0 1.23962E-05
27563 95 R/H 129 rs118079537 0.6138 None gnomAD-2.1.1 2.50275E-04
27563 95 R/H 129 rs118079537 0.6138 None gnomAD-3.1.2 1.31574E-04
27563 95 R/H 129 rs118079537 0.6138 None 1000 genomes 5.99042E-04
27563 95 R/H 129 rs118079537 0.6138 None gnomAD-4.0.0 6.75517E-05
27563 95 R/S 129 rs72648214 0.6138 None gnomAD-4.0.0 6.84261E-07
27564 96 A/E 130 rs55634791 0.5444 None gnomAD-3.1.2 6.58E-06
27564 96 A/E 130 rs55634791 0.5444 None gnomAD-4.0.0 6.57929E-06
27564 96 A/V 130 rs55634791 0.5444 None gnomAD-2.1.1 6.93724E-04
27564 96 A/V 130 rs55634791 0.5444 None gnomAD-3.1.2 8.4215E-04
27564 96 A/V 130 rs55634791 0.5444 None gnomAD-4.0.0 1.18196E-03
27565 97 C/Y 131 rs1408346565 0.9663 None gnomAD-2.1.1 4.03E-06
27565 97 C/Y 131 rs1408346565 0.9663 None gnomAD-4.0.0 1.20032E-06