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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19479 1 R/C 1 rs768666860 0.4681 None gnomAD-2.1.1 4.15E-06
19479 1 R/C 1 rs768666860 0.4681 None gnomAD-4.0.0 6.86725E-06
19479 1 R/H 1 rs2288569 0.4681 None gnomAD-2.1.1 1.74251E-01
19479 1 R/H 1 rs2288569 0.4681 None gnomAD-3.1.2 1.42208E-01
19479 1 R/H 1 rs2288569 0.4681 None 1000 genomes 2.1246E-01
19479 1 R/H 1 rs2288569 0.4681 None gnomAD-4.0.0 1.53386E-01
19479 1 R/L 1 rs2288569 0.4681 None gnomAD-2.1.1 4.1E-06
19479 1 R/L 1 rs2288569 0.4681 None gnomAD-4.0.0 1.37171E-06
19480 2 P/S 2 None 0.1326 None gnomAD-4.0.0 3.19982E-06
19482 4 P/L 4 rs746380279 0.4582 None gnomAD-2.1.1 4.12E-06
19482 4 P/L 4 rs746380279 0.4582 None gnomAD-4.0.0 2.05932E-06
19482 4 P/Q 4 None 0.4582 None gnomAD-4.0.0 6.86439E-07
19482 4 P/S 4 rs758990147 0.4582 None gnomAD-2.1.1 4.09E-06
19482 4 P/S 4 rs758990147 0.4582 None gnomAD-3.1.2 1.32E-05
19482 4 P/S 4 rs758990147 0.4582 None gnomAD-4.0.0 1.31728E-05
19483 5 P/A 5 rs367624056 0.1277 None gnomAD-2.1.1 4.05E-06
19483 5 P/A 5 rs367624056 0.1277 None gnomAD-3.1.2 6.59E-06
19483 5 P/A 5 rs367624056 0.1277 None gnomAD-4.0.0 5.13346E-06
19483 5 P/R 5 rs1329556229 0.1277 None gnomAD-2.1.1 4.05E-06
19483 5 P/R 5 rs1329556229 0.1277 None gnomAD-4.0.0 4.78141E-06
19483 5 P/T 5 None 0.1277 None gnomAD-2.1.1 4.05E-06
19483 5 P/T 5 None 0.1277 None gnomAD-4.0.0 1.59386E-06
19485 7 G/R 7 None 0.4329 None gnomAD-4.0.0 6.84572E-07
19486 8 P/L 8 None 0.8515 None gnomAD-4.0.0 6.84566E-07
19486 8 P/R 8 None 0.8515 None gnomAD-4.0.0 2.0537E-06
19489 11 F/L 12 rs1484820483 0.3472 None gnomAD-3.1.2 1.31E-05
19489 11 F/L 12 rs1484820483 0.3472 None gnomAD-4.0.0 3.71989E-06
19490 12 D/E 13 rs374118468 0.4533 None gnomAD-2.1.1 8.1E-06
19490 12 D/E 13 rs374118468 0.4533 None gnomAD-3.1.2 5.26E-05
19490 12 D/E 13 rs374118468 0.4533 None gnomAD-4.0.0 4.10718E-06
19491 13 E/V 14 rs2050771375 0.3976 None gnomAD-3.1.2 6.58E-06
19491 13 E/V 14 rs2050771375 0.3976 None gnomAD-4.0.0 6.57851E-06
19492 14 V/G 15 rs2050770436 0.3531 None gnomAD-3.1.2 6.58E-06
19492 14 V/G 15 rs2050770436 0.3531 None gnomAD-4.0.0 6.57938E-06
19492 14 V/L 15 rs1224533828 0.3531 None gnomAD-2.1.1 3.19E-05
19492 14 V/L 15 rs1224533828 0.3531 None gnomAD-3.1.2 6.58E-06
19492 14 V/L 15 rs1224533828 0.3531 None gnomAD-4.0.0 6.5786E-06
19492 14 V/M 15 None 0.3531 None gnomAD-4.0.0 1.20032E-06
19494 16 K/R 17 None 0.3342 None gnomAD-4.0.0 1.59297E-06
19496 18 Y/F 19 None 0.2657 None gnomAD-4.0.0 1.20032E-06
19496 18 Y/S 19 None 0.2657 None gnomAD-4.0.0 1.20032E-06
19497 19 M/I 20 rs752006805 0.0833 None gnomAD-2.1.1 3.19E-05
19497 19 M/I 20 rs752006805 0.0833 None gnomAD-4.0.0 2.5327E-05
19497 19 M/T 20 rs375365886 0.0833 None gnomAD-2.1.1 8.09E-06
19497 19 M/T 20 rs375365886 0.0833 None gnomAD-3.1.2 6.58E-06
19497 19 M/T 20 rs375365886 0.0833 None gnomAD-4.0.0 1.30194E-05
19497 19 M/V 20 rs754532919 0.0833 None gnomAD-2.1.1 1.21E-05
19497 19 M/V 20 rs754532919 0.0833 None gnomAD-3.1.2 6.58E-06
19497 19 M/V 20 rs754532919 0.0833 None gnomAD-4.0.0 6.41185E-06
19500 22 S/F 23 rs1465284889 0.2058 None gnomAD-2.1.1 4.04E-06
19500 22 S/F 23 rs1465284889 0.2058 None gnomAD-4.0.0 6.8451E-07
19503 25 P/A 26 rs762898731 0.4467 None gnomAD-2.1.1 4.04E-06
19503 25 P/A 26 rs762898731 0.4467 None gnomAD-4.0.0 1.59279E-06
19503 25 P/L 26 rs2050765996 0.4467 None gnomAD-3.1.2 6.58E-06
19503 25 P/S 26 rs762898731 0.4467 None gnomAD-2.1.1 4.04E-06
19503 25 P/S 26 rs762898731 0.4467 None gnomAD-4.0.0 1.59279E-06
19504 26 P/L 27 rs1454300536 0.2101 None gnomAD-2.1.1 4.04E-06
19504 26 P/L 27 rs1454300536 0.2101 None gnomAD-4.0.0 6.84479E-07
19504 26 P/R 27 None 0.2101 None gnomAD-4.0.0 6.84479E-07
19506 28 D/E 29 rs1238125586 0.6658 None gnomAD-2.1.1 1.21E-05
19506 28 D/E 29 rs1238125586 0.6658 None gnomAD-4.0.0 2.87473E-05
19506 28 D/G 29 None 0.6658 None gnomAD-4.0.0 1.20037E-06
19507 29 D/V 30 rs1177368382 0.2942 None gnomAD-2.1.1 4.04E-06
19508 30 G/E 31 None 0.3622 None gnomAD-4.0.0 2.40065E-06
19509 31 G/S 32 rs1251770626 0.5690 None gnomAD-2.1.1 4.04E-06
19509 31 G/S 32 rs1251770626 0.5690 None gnomAD-4.0.0 1.59255E-06
19510 32 S/G 33 None 0.1665 None gnomAD-4.0.0 1.59249E-06
19510 32 S/N 33 rs1209004438 0.1665 None gnomAD-4.0.0 1.59249E-06
19512 34 I/T 35 rs1343150103 0.2522 None gnomAD-2.1.1 4.04E-06
19512 34 I/T 35 rs1343150103 0.2522 None gnomAD-4.0.0 1.59241E-06
19514 36 N/D 37 rs765019992 0.2031 None gnomAD-2.1.1 8.07E-06
19514 36 N/D 37 rs765019992 0.2031 None gnomAD-4.0.0 6.84408E-07
19514 36 N/H 37 None 0.2031 None gnomAD-4.0.0 6.84408E-07
19514 36 N/S 37 rs761612554 0.2031 None gnomAD-2.1.1 4.03E-06
19514 36 N/S 37 rs761612554 0.2031 None gnomAD-4.0.0 2.05323E-06
19515 37 Y/C 38 rs1353143854 0.1350 None gnomAD-2.1.1 4.03E-06
19515 37 Y/C 38 rs1353143854 0.1350 None gnomAD-4.0.0 6.84406E-06
19516 38 I/V 39 rs776824040 0.2195 None gnomAD-2.1.1 4.03E-06
19516 38 I/V 39 rs776824040 0.2195 None gnomAD-4.0.0 1.59231E-06
19517 39 I/T 40 rs72646838 0.0828 None gnomAD-2.1.1 4.03E-06
19517 39 I/T 40 rs72646838 0.0828 None gnomAD-3.1.2 3.29E-05
19517 39 I/T 40 rs72646838 0.0828 ARVC
Literature None
19517 39 I/T 40 rs72646838 0.0828 None gnomAD-4.0.0 1.6116E-05
19518 40 E/D 41 rs747066203 0.1448 None gnomAD-2.1.1 4.03E-06
19518 40 E/D 41 rs747066203 0.1448 None gnomAD-4.0.0 6.84383E-07
19518 40 E/K 41 rs1329313961 0.1448 None gnomAD-2.1.1 4.03E-06
19518 40 E/K 41 rs1329313961 0.1448 None gnomAD-4.0.0 1.59227E-06
19519 41 K/E 42 rs775586810 0.1612 None gnomAD-2.1.1 4.03E-06
19519 41 K/E 42 rs775586810 0.1612 None gnomAD-4.0.0 1.59218E-06
19519 41 K/N 42 rs772071197 0.1612 None gnomAD-2.1.1 4.03E-06
19519 41 K/N 42 rs772071197 0.1612 None gnomAD-4.0.0 1.59223E-06
19521 43 E/D 44 rs1156295835 0.2218 None gnomAD-2.1.1 8.06E-06
19521 43 E/D 44 rs1156295835 0.2218 None gnomAD-4.0.0 3.18433E-06
19521 43 E/G 44 rs543122164 0.2218 None gnomAD-2.1.1 4.03E-06
19521 43 E/G 44 rs543122164 0.2218 None gnomAD-3.1.2 6.58E-06
19521 43 E/G 44 rs543122164 0.2218 None 1000 genomes 1.99681E-04
19521 43 E/G 44 rs543122164 0.2218 None gnomAD-4.0.0 2.56333E-06
19521 43 E/K 44 rs746319976 0.2218 None gnomAD-2.1.1 2.02E-05
19521 43 E/K 44 rs746319976 0.2218 None gnomAD-3.1.2 1.32E-05
19521 43 E/K 44 rs746319976 0.2218 None gnomAD-4.0.0 5.579E-06
19521 43 E/V 44 rs543122164 0.2218 None gnomAD-2.1.1 4.03E-06
19526 48 V/F 64 rs377682563 0.7051 None gnomAD-2.1.1 4.03E-06
19526 48 V/F 64 rs377682563 0.7051 None gnomAD-4.0.0 6.84375E-07
19526 48 V/I 64 rs377682563 0.7051 None gnomAD-2.1.1 1.43085E-04
19526 48 V/I 64 rs377682563 0.7051 None gnomAD-3.1.2 1.90779E-04
19526 48 V/I 64 rs377682563 0.7051 None 1000 genomes 1.99681E-04
19526 48 V/I 64 rs377682563 0.7051 None gnomAD-4.0.0 3.30376E-04
19528 50 M/T 66 None 0.3322 None gnomAD-4.0.0 3.60097E-06
19529 51 P/S 67 None 0.6898 None gnomAD-4.0.0 4.10625E-06
19529 51 P/T 67 rs878972430 0.6898 None gnomAD-2.1.1 3.19E-05
19529 51 P/T 67 rs878972430 0.6898 None gnomAD-3.1.2 2.63E-05
19529 51 P/T 67 rs878972430 0.6898 None gnomAD-4.0.0 3.71945E-06
19530 52 V/A 68 rs1187285216 0.2997 None gnomAD-2.1.1 4.03E-06
19530 52 V/A 68 rs1187285216 0.2997 None gnomAD-4.0.0 3.18425E-06
19531 53 T/I 69 rs1258679826 0.2664 None gnomAD-4.0.0 1.36873E-06
19531 53 T/R 69 rs1258679826 0.2664 None gnomAD-2.1.1 4.03E-06
19531 53 T/R 69 rs1258679826 0.2664 None gnomAD-4.0.0 6.84366E-07
19533 55 A/P 75 rs751194562 0.5921 None gnomAD-2.1.1 4.03E-06
19533 55 A/P 75 rs751194562 0.5921 None gnomAD-4.0.0 3.18433E-06
19534 56 S/G 77 None 0.1610 None gnomAD-4.0.0 1.59211E-06
19534 56 S/N 77 rs563833549 0.1610 None gnomAD-2.1.1 3.22E-05
19534 56 S/N 77 rs563833549 0.1610 None gnomAD-3.1.2 3.29E-05
19534 56 S/N 77 rs563833549 0.1610 None 1000 genomes 1.99681E-04
19534 56 S/N 77 rs563833549 0.1610 None gnomAD-4.0.0 1.67353E-05
19536 58 K/E 88 None 0.7697 None gnomAD-4.0.0 3.18421E-06
19537 59 T/R 89 None 0.1864 None gnomAD-4.0.0 6.84382E-07
19537 59 T/S 89 rs750320421 0.1864 None gnomAD-2.1.1 4.03E-06
19537 59 T/S 89 rs750320421 0.1864 None gnomAD-3.1.2 1.97E-05
19537 59 T/S 89 rs750320421 0.1864 None gnomAD-4.0.0 5.12726E-06
19538 60 T/A 90 rs200017524 0.3792 None gnomAD-2.1.1 4.54308E-04
19538 60 T/A 90 rs200017524 0.3792 None gnomAD-3.1.2 1.40725E-03
19538 60 T/A 90 rs200017524 0.3792 None 1000 genomes 1.19808E-03
19538 60 T/A 90 rs200017524 0.3792 None gnomAD-4.0.0 2.61564E-04
19538 60 T/I 90 rs370686112 0.3792 None gnomAD-3.1.2 6.58E-06
19538 60 T/I 90 rs370686112 0.3792 None gnomAD-4.0.0 6.57877E-06
19538 60 T/K 90 rs370686112 0.3792 None gnomAD-2.1.1 3.22E-05
19538 60 T/K 90 rs370686112 0.3792 None gnomAD-3.1.2 1.0526E-04
19538 60 T/K 90 rs370686112 0.3792 None gnomAD-4.0.0 2.54157E-05
19539 61 C/F 91 rs539868284 0.1954 None gnomAD-2.1.1 1.21E-05
19539 61 C/F 91 rs539868284 0.1954 None gnomAD-3.1.2 6.58E-06
19539 61 C/F 91 rs539868284 0.1954 None gnomAD-4.0.0 6.81905E-06
19539 61 C/R 91 rs753678261 0.1954 None gnomAD-2.1.1 2.82E-05
19539 61 C/R 91 rs753678261 0.1954 None gnomAD-3.1.2 1.97E-05
19539 61 C/R 91 rs753678261 0.1954 None gnomAD-4.0.0 1.05377E-05
19539 61 C/S 91 rs753678261 0.1954 None gnomAD-2.1.1 4.03E-06
19539 61 C/S 91 rs753678261 0.1954 None gnomAD-4.0.0 1.36875E-06
19540 62 K/I 92 rs2050741869 0.3402 None gnomAD-4.0.0 1.59229E-06
19541 63 V/A 93 rs760841948 0.1433 None gnomAD-2.1.1 4.03E-06
19541 63 V/A 93 rs760841948 0.1433 None gnomAD-4.0.0 1.59233E-06
19542 64 S/P 94 rs145198325 0.4391 None gnomAD-2.1.1 2.42E-05
19542 64 S/P 94 rs145198325 0.4391 None gnomAD-3.1.2 1.05213E-04
19542 64 S/P 94 rs145198325 0.4391 None 1000 genomes 1.99681E-04
19542 64 S/P 94 rs145198325 0.4391 None gnomAD-4.0.0 1.98349E-05
19542 64 S/Y 94 None 0.4391 None gnomAD-4.0.0 1.20032E-06
19543 65 K/E 96 None 0.8814 None gnomAD-4.0.0 1.59232E-06
19544 66 L/P 97 rs373353480 0.1503 None gnomAD-3.1.2 1.31E-05
19544 66 L/P 97 rs373353480 0.1503 None gnomAD-4.0.0 8.97355E-06
19544 66 L/V 97 rs772132591 0.1503 None gnomAD-2.1.1 4.03E-06
19544 66 L/V 97 rs772132591 0.1503 None gnomAD-4.0.0 4.1066E-06
19546 68 E/Q 99 rs201840554 0.4624 None gnomAD-2.1.1 9.91836E-04
19546 68 E/Q 99 rs201840554 0.4624 None gnomAD-3.1.2 2.93355E-03
19546 68 E/Q 99 rs201840554 0.4624 None 1000 genomes 2.19649E-03
19546 68 E/Q 99 rs201840554 0.4624 None gnomAD-4.0.0 5.47979E-04
19547 69 G/E 100 rs374713701 0.2969 None gnomAD-2.1.1 8.07E-06
19547 69 G/E 100 rs374713701 0.2969 None gnomAD-4.0.0 1.57427E-05
19547 69 G/R 100 rs886055260 0.2969 None gnomAD-4.0.0 1.20032E-06
19547 69 G/V 100 rs374713701 0.2969 None gnomAD-2.1.1 4.03E-06
19547 69 G/V 100 rs374713701 0.2969 None gnomAD-3.1.2 2.63E-05
19547 69 G/V 100 rs374713701 0.2969 None gnomAD-4.0.0 2.6303E-05
19549 71 D/Y 103 rs1472080899 0.2722 None gnomAD-2.1.1 8.07E-06
19549 71 D/Y 103 rs1472080899 0.2722 None gnomAD-3.1.2 6.58E-06
19549 71 D/Y 103 rs1472080899 0.2722 None gnomAD-4.0.0 4.33978E-06
19550 72 Y/C 104 rs770314252 0.1253 None gnomAD-2.1.1 7.17E-06
19550 72 Y/C 104 rs770314252 0.1253 None gnomAD-3.1.2 6.57E-06
19550 72 Y/C 104 rs770314252 0.1253 None gnomAD-4.0.0 1.17788E-05
19550 72 Y/D 104 None 0.1253 None gnomAD-4.0.0 1.59279E-06
19550 72 Y/H 104 rs2154186587 0.1253 None gnomAD-3.1.2 6.57E-06
19550 72 Y/H 104 rs2154186587 0.1253 None gnomAD-4.0.0 2.56394E-06
19551 73 I/V 105 rs1264084790 0.2365 None gnomAD-4.0.0 3.18563E-06
19553 75 R/G 107 None 0.1757 None gnomAD-2.1.1 4.04E-06
19553 75 R/G 107 None 0.1757 None gnomAD-3.1.2 6.58E-06
19553 75 R/G 107 None 0.1757 None gnomAD-4.0.0 3.10014E-06
19553 75 R/P 107 None 0.1757 None gnomAD-4.0.0 3.42273E-06
19553 75 R/Q 107 rs543279513 0.1757 None gnomAD-2.1.1 1.08E-05
19553 75 R/Q 107 rs543279513 0.1757 None gnomAD-3.1.2 1.97E-05
19553 75 R/Q 107 rs543279513 0.1757 None 1000 genomes 3.99361E-04
19553 75 R/Q 107 rs543279513 0.1757 None gnomAD-4.0.0 7.43962E-06
19553 75 R/W 107 rs372959465 0.1757 None gnomAD-2.1.1 1.43E-05
19553 75 R/W 107 rs372959465 0.1757 None gnomAD-3.1.2 1.97E-05
19553 75 R/W 107 rs372959465 0.1757 None gnomAD-4.0.0 1.30206E-05
19554 76 I/L 108 rs879139698 0.0713 None gnomAD-4.0.0 2.40064E-06
19554 76 I/T 108 rs974431132 0.0713 None gnomAD-2.1.1 4.04E-06
19554 76 I/T 108 rs974431132 0.0713 None gnomAD-4.0.0 3.18593E-06
19555 77 H/R 109 None 0.2232 None gnomAD-4.0.0 1.59301E-06
19555 77 H/Y 109 rs1289211242 0.2232 None gnomAD-2.1.1 4.04E-06
19555 77 H/Y 109 rs1289211242 0.2232 None gnomAD-4.0.0 6.84543E-06
19557 79 E/K 111 None 0.2743 None gnomAD-4.0.0 2.40065E-06
19558 80 N/K 112 rs1455635388 0.1056 None gnomAD-3.1.2 6.57E-06
19558 80 N/K 112 rs1455635388 0.1056 None gnomAD-4.0.0 6.57445E-06
19558 80 N/S 112 rs369224233 0.1056 None gnomAD-2.1.1 7.18E-06
19558 80 N/S 112 rs369224233 0.1056 None gnomAD-3.1.2 1.31E-05
19558 80 N/S 112 rs369224233 0.1056 None gnomAD-4.0.0 3.84724E-06
19559 81 L/M 113 None 0.7144 None gnomAD-4.0.0 6.84595E-07
19559 81 L/Q 113 rs76604657 0.7144 None gnomAD-2.1.1 1.43533E-04
19559 81 L/Q 113 rs76604657 0.7144 None gnomAD-3.1.2 1.18315E-04
19559 81 L/Q 113 rs76604657 0.7144 None 1000 genomes 5.99042E-04
19559 81 L/Q 113 rs76604657 0.7144 None gnomAD-4.0.0 1.76068E-04
19559 81 L/V 113 None 0.7144 None gnomAD-4.0.0 6.84595E-07
19561 83 G/A 115 rs372491628 0.2059 None gnomAD-2.1.1 4.05E-06
19561 83 G/A 115 rs372491628 0.2059 None gnomAD-3.1.2 6.58E-06
19561 83 G/A 115 rs372491628 0.2059 None gnomAD-4.0.0 4.34038E-06
19561 83 G/E 115 rs372491628 0.2059 None gnomAD-2.1.1 4.05E-06
19561 83 G/R 115 rs760399687 0.2059 None gnomAD-2.1.1 4.05E-06
19561 83 G/R 115 rs760399687 0.2059 None gnomAD-3.1.2 6.58E-06
19561 83 G/R 115 rs760399687 0.2059 None gnomAD-4.0.0 5.1307E-06
19562 84 I/L 117 rs397517637 0.4477 None gnomAD-2.1.1 7.18E-06
19562 84 I/L 117 rs397517637 0.4477 None gnomAD-3.1.2 6.57E-06
19562 84 I/L 117 rs397517637 0.4477 None gnomAD-4.0.0 6.57272E-06
19562 84 I/R 117 None 0.4477 None gnomAD-4.0.0 4.80129E-06
19562 84 I/V 117 rs397517637 0.4477 None gnomAD-4.0.0 6.00164E-06
19563 85 S/N 118 rs759628569 0.0975 None gnomAD-2.1.1 8.09E-06
19563 85 S/N 118 rs759628569 0.0975 None gnomAD-3.1.2 1.97E-05
19563 85 S/N 118 rs759628569 0.0975 None gnomAD-4.0.0 1.79818E-05
19564 86 D/E 119 rs1236959839 0.5554 None gnomAD-2.1.1 3.19E-05
19564 86 D/E 119 rs1236959839 0.5554 None gnomAD-3.1.2 6.57E-06
19564 86 D/E 119 rs1236959839 0.5554 None gnomAD-4.0.0 6.08982E-06
19564 86 D/N 119 rs182400450 0.5554 None gnomAD-2.1.1 4.05E-06
19564 86 D/N 119 rs182400450 0.5554 None gnomAD-3.1.2 6.57E-06
19564 86 D/N 119 rs182400450 0.5554 None 1000 genomes 1.99681E-04
19564 86 D/N 119 rs182400450 0.5554 None gnomAD-4.0.0 6.56961E-06
19564 86 D/Y 119 None 0.5554 None gnomAD-4.0.0 3.18728E-06
19565 87 P/H 120 None 0.4169 None gnomAD-4.0.0 2.40065E-06
19565 87 P/L 120 rs878880222 0.4169 None gnomAD-2.1.1 3.19E-05
19565 87 P/L 120 rs878880222 0.4169 None gnomAD-3.1.2 1.97E-05
19565 87 P/L 120 rs878880222 0.4169 None gnomAD-4.0.0 1.97306E-05
19567 89 V/A 122 rs763514219 0.4106 None gnomAD-2.1.1 4.05E-06
19567 89 V/A 122 rs763514219 0.4106 None gnomAD-4.0.0 1.02704E-05
19567 89 V/L 122 None 0.4106 None gnomAD-4.0.0 1.20032E-06
19567 89 V/M 122 rs1448926202 0.4106 None gnomAD-2.1.1 3.19E-05
19567 89 V/M 122 rs1448926202 0.4106 None gnomAD-3.1.2 1.32E-05
19567 89 V/M 122 rs1448926202 0.4106 None gnomAD-4.0.0 1.31544E-05
19568 90 S/C 123 rs1465396608 0.1606 None gnomAD-2.1.1 4.05E-06
19568 90 S/C 123 rs1465396608 0.1606 None gnomAD-4.0.0 1.59417E-06
19569 91 D/N 125 rs397517638 0.8990 None gnomAD-2.1.1 8.11E-06
19569 91 D/N 125 rs397517638 0.8990 None gnomAD-3.1.2 6.58E-06
19569 91 D/N 125 rs397517638 0.8990 None gnomAD-4.0.0 1.86072E-06
19571 93 M/V 127 rs770228515 0.2819 None gnomAD-2.1.1 8.11E-06
19571 93 M/V 127 rs770228515 0.2819 None gnomAD-4.0.0 8.90388E-06
19574 96 K/E 131 rs1032128606 0.6420 None gnomAD-3.1.2 6.57E-06
19574 96 K/E 131 rs1032128606 0.6420 None gnomAD-4.0.0 6.57376E-06
19575 97 D/Y 132 rs748522705 0.6235 None gnomAD-2.1.1 4.07E-06
19575 97 D/Y 132 rs748522705 0.6235 None gnomAD-4.0.0 1.5961E-06