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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24519 1 T/I 1 rs747442288 0.1926 None gnomAD-2.1.1 7.15E-06
24519 1 T/I 1 rs747442288 0.1926 None gnomAD-3.1.2 6.58E-06
24519 1 T/I 1 rs747442288 0.1926 None gnomAD-4.0.0 5.57862E-06
24519 1 T/P 1 None 0.1926 None gnomAD-4.0.0 1.592E-06
24520 2 P/A 2 rs780474186 0.0915 None gnomAD-2.1.1 4.03E-06
24520 2 P/A 2 rs780474186 0.0915 None gnomAD-4.0.0 6.84346E-07
24520 2 P/L 2 None 0.0915 None gnomAD-4.0.0 1.20032E-06
24520 2 P/T 2 None 0.0915 None gnomAD-4.0.0 6.84346E-07
24521 3 G/D 3 None 0.1752 None gnomAD-4.0.0 1.20032E-06
24522 4 P/A 4 rs1195696847 0.3109 None gnomAD-2.1.1 4.03E-06
24522 4 P/A 4 rs1195696847 0.3109 None gnomAD-4.0.0 1.59198E-06
24522 4 P/R 4 None 0.3109 None gnomAD-4.0.0 1.59202E-06
24523 5 P/L 5 None 0.1214 None gnomAD-4.0.0 1.36869E-06
24523 5 P/Q 5 rs753557799 0.1214 None gnomAD-2.1.1 3.22E-05
24523 5 P/Q 5 rs753557799 0.1214 None gnomAD-4.0.0 5.47478E-06
24523 5 P/R 5 None 0.1214 None gnomAD-4.0.0 1.36869E-06
24523 5 P/T 5 rs1280513533 0.1214 None gnomAD-2.1.1 4.03E-06
24523 5 P/T 5 rs1280513533 0.1214 None gnomAD-4.0.0 1.59198E-06
24524 6 Q/E 6 None 0.2474 None gnomAD-4.0.0 1.20032E-06
24524 6 Q/K 6 rs753429609 0.2474 None gnomAD-4.0.0 1.20032E-06
24525 7 D/E 7 rs1039373351 0.5588 None gnomAD-4.0.0 2.053E-06
24525 7 D/N 7 rs1273296080 0.5588 None gnomAD-3.1.2 6.58E-06
24525 7 D/N 7 rs1273296080 0.5588 None gnomAD-4.0.0 1.85953E-06
24525 7 D/V 7 None 0.5588 None gnomAD-4.0.0 1.59195E-06
24527 9 K/N 11 rs763480481 0.4011 None gnomAD-2.1.1 4.03E-06
24527 9 K/N 11 rs763480481 0.4011 None gnomAD-4.0.0 6.84344E-07
24527 9 K/T 11 None 0.4011 None gnomAD-4.0.0 3.60097E-06
24530 12 E/A 14 None 0.3689 None gnomAD-4.0.0 1.20032E-06
24530 12 E/D 14 None 0.3689 None gnomAD-4.0.0 6.84351E-07
24530 12 E/K 14 None 0.3689 None gnomAD-4.0.0 1.36869E-06
24531 13 V/D 15 None 0.3044 None gnomAD-4.0.0 1.59203E-06
24531 13 V/F 15 None 0.3044 None gnomAD-4.0.0 2.05306E-06
24532 14 T/I 16 None 0.2814 None gnomAD-4.0.0 1.20032E-06
24532 14 T/P 16 rs752664615 0.2814 None gnomAD-2.1.1 4.03E-06
24534 16 T/P 18 rs767625831 0.4355 None gnomAD-3.1.2 1.31E-05
24534 16 T/P 18 rs767625831 0.4355 None gnomAD-4.0.0 1.31496E-05
24534 16 T/S 18 rs767625831 0.4355 None gnomAD-4.0.0 2.05303E-06
24535 17 S/C 19 None 0.1534 None gnomAD-4.0.0 6.84357E-07
24535 17 S/F 19 rs201804005 0.1534 None gnomAD-3.1.2 6.57E-06
24535 17 S/F 19 rs201804005 0.1534 None gnomAD-4.0.0 6.57428E-06
24535 17 S/P 19 None 0.1534 None gnomAD-4.0.0 1.36869E-06
24535 17 S/Y 19 rs201804005 0.1534 None gnomAD-2.1.1 4.43256E-04
24535 17 S/Y 19 rs201804005 0.1534 None gnomAD-3.1.2 3.81308E-04
24535 17 S/Y 19 rs201804005 0.1534 None 1000 genomes 1.99681E-04
24535 17 S/Y 19 rs201804005 0.1534 None gnomAD-4.0.0 3.2291E-04
24536 18 V/D 20 rs766221938 0.1008 None gnomAD-2.1.1 4.03E-06
24536 18 V/D 20 rs766221938 0.1008 None gnomAD-4.0.0 2.05303E-06
24536 18 V/I 20 None 0.1008 None gnomAD-4.0.0 6.84348E-07
24536 18 V/L 20 rs1189074797 0.1008 None gnomAD-2.1.1 4.03E-06
24536 18 V/L 20 rs1189074797 0.1008 None gnomAD-4.0.0 6.84348E-07
24537 19 T/A 21 rs1192398039 0.1631 None gnomAD-2.1.1 3.19E-05
24537 19 T/A 21 rs1192398039 0.1631 None gnomAD-3.1.2 6.57E-06
24537 19 T/A 21 rs1192398039 0.1631 None gnomAD-4.0.0 6.57367E-06
24537 19 T/I 21 rs1452164843 0.1631 None gnomAD-2.1.1 3.19E-05
24537 19 T/I 21 rs1452164843 0.1631 None gnomAD-3.1.2 6.57E-06
24537 19 T/I 21 rs1452164843 0.1631 None gnomAD-4.0.0 6.57471E-06
24538 20 L/P 22 None 0.1214 None gnomAD-4.0.0 2.40064E-06
24539 21 T/R 23 rs890303676 0.2593 None gnomAD-2.1.1 3.19E-05
24539 21 T/R 23 rs890303676 0.2593 None gnomAD-3.1.2 6.58E-06
24539 21 T/R 23 rs890303676 0.2593 None gnomAD-4.0.0 3.84515E-06
24540 22 W/G 24 rs564995755 0.1018 None gnomAD-2.1.1 4.03E-06
24540 22 W/G 24 rs564995755 0.1018 None gnomAD-3.1.2 6.57E-06
24540 22 W/G 24 rs564995755 0.1018 None 1000 genomes 1.99681E-04
24540 22 W/G 24 rs564995755 0.1018 None gnomAD-4.0.0 6.56918E-06
24540 22 W/R 24 None 0.1018 None gnomAD-4.0.0 1.20032E-06
24541 23 D/E 25 None 0.4652 None gnomAD-4.0.0 1.20032E-06
24541 23 D/H 25 None 0.4652 None gnomAD-4.0.0 6.84369E-07
24541 23 D/N 25 rs868185177 0.4652 None gnomAD-4.0.0 1.36874E-06
24542 24 P/L 26 None 0.4647 None gnomAD-4.0.0 6.84383E-07
24542 24 P/R 26 rs901760899 0.4647 None gnomAD-4.0.0 3.42192E-06
24542 24 P/T 26 None 0.4647 None gnomAD-4.0.0 1.20032E-06
24543 25 P/A 27 None 0.1556 None gnomAD-4.0.0 4.8013E-06
24543 25 P/R 27 None 0.1556 None gnomAD-4.0.0 1.59221E-06
24543 25 P/S 27 rs1277675236 0.1556 None gnomAD-3.1.2 1.32E-05
24543 25 P/S 27 rs1277675236 0.1556 None gnomAD-4.0.0 7.10529E-06
24544 26 L/F 28 rs777417650 0.9133 None gnomAD-2.1.1 1.61E-05
24544 26 L/F 28 rs777417650 0.9133 None gnomAD-3.1.2 1.97E-05
24544 26 L/F 28 rs777417650 0.9133 None gnomAD-4.0.0 2.29354E-05
24544 26 L/V 28 None 0.9133 None gnomAD-4.0.0 6.84397E-07
24545 27 L/P 29 rs865922152 0.4473 None gnomAD-4.0.0 1.36879E-06
24545 27 L/R 29 None 0.4473 None gnomAD-4.0.0 1.36879E-06
24546 28 D/E 30 None 0.2799 None gnomAD-4.0.0 6.84409E-07
24546 28 D/H 30 rs1051495269 0.2799 None gnomAD-2.1.1 1.07E-05
24546 28 D/H 30 rs1051495269 0.2799 None gnomAD-3.1.2 1.97E-05
24546 28 D/H 30 rs1051495269 0.2799 None gnomAD-4.0.0 3.71946E-06
24546 28 D/V 30 rs769744030 0.2799 None gnomAD-2.1.1 2.15E-05
24546 28 D/V 30 rs769744030 0.2799 None gnomAD-3.1.2 2.63E-05
24546 28 D/V 30 rs769744030 0.2799 None gnomAD-4.0.0 1.42577E-05
24547 29 G/E 31 rs777119155 0.1115 None gnomAD-2.1.1 8.06E-06
24547 29 G/E 31 rs777119155 0.1115 None gnomAD-4.0.0 6.16026E-06
24548 30 G/S 32 None 0.3093 None gnomAD-4.0.0 6.84548E-07
24548 30 G/V 32 rs551033308 0.3093 None gnomAD-3.1.2 6.58E-06
24548 30 G/V 32 rs551033308 0.3093 None 1000 genomes 1.99681E-04
24548 30 G/V 32 rs551033308 0.3093 None gnomAD-4.0.0 2.56469E-06
24549 31 S/T 33 None 0.1779 None gnomAD-4.0.0 1.20032E-06
24550 32 K/E 34 rs1323106581 0.9407 None gnomAD-4.0.0 1.36906E-06
24551 33 I/V 35 rs879246805 0.2241 None gnomAD-2.1.1 1.79E-05
24551 33 I/V 35 rs879246805 0.2241 None gnomAD-3.1.2 1.97E-05
24551 33 I/V 35 rs879246805 0.2241 None gnomAD-4.0.0 8.97714E-06
24552 34 K/Q 36 None 0.4500 None gnomAD-4.0.0 1.59307E-06
24553 35 N/K 37 rs1368527977 0.1432 None gnomAD-2.1.1 4.03E-06
24554 36 Y/S 38 None 0.1274 None gnomAD-4.0.0 1.59311E-06
24555 37 I/V 39 rs1708576305 0.1806 None gnomAD-4.0.0 1.59304E-06
24556 38 V/F 40 rs532581749 0.0995 None gnomAD-2.1.1 4.03E-06
24556 38 V/F 40 rs532581749 0.0995 None gnomAD-3.1.2 6.58E-06
24556 38 V/F 40 rs532581749 0.0995 None 1000 genomes 1.99681E-04
24556 38 V/F 40 rs532581749 0.0995 None gnomAD-4.0.0 6.57125E-06
24556 38 V/L 40 None 0.0995 None gnomAD-4.0.0 1.36941E-06
24557 39 E/K 41 rs747530483 0.1193 None gnomAD-2.1.1 4.03E-06
24557 39 E/K 41 rs747530483 0.1193 None gnomAD-4.0.0 1.08029E-05
24559 41 R/Q 43 rs780238881 0.1252 None gnomAD-2.1.1 2.42E-05
24559 41 R/Q 43 rs780238881 0.1252 None gnomAD-3.1.2 6.58E-06
24559 41 R/Q 43 rs780238881 0.1252 None gnomAD-4.0.0 1.86088E-05
24559 41 R/W 43 rs367904757 0.1252 None gnomAD-2.1.1 3.19E-05
24559 41 R/W 43 rs367904757 0.1252 None gnomAD-3.1.2 1.32E-05
24559 41 R/W 43 rs367904757 0.1252 None gnomAD-4.0.0 6.20327E-06
24560 42 E/A 44 None 0.2491 None gnomAD-4.0.0 1.20032E-06
24561 43 S/L 50 None 0.3192 None gnomAD-4.0.0 2.40064E-06
24562 44 T/R 54 None 0.7256 None gnomAD-4.0.0 1.36961E-06
24563 45 R/G 60 None 0.4937 None gnomAD-4.0.0 1.59418E-06
24563 45 R/T 60 rs560347347 0.4937 None gnomAD-3.1.2 6.58E-06
24563 45 R/T 60 rs560347347 0.4937 None 1000 genomes 1.99681E-04
24563 45 R/T 60 rs560347347 0.4937 None gnomAD-4.0.0 6.57091E-06
24564 46 K/I 63 rs758888839 1.0640 None gnomAD-2.1.1 3.19E-05
24564 46 K/I 63 rs758888839 1.0640 None gnomAD-3.1.2 6.58E-06
24564 46 K/I 63 rs758888839 1.0640 None gnomAD-4.0.0 9.92236E-06
24565 47 A/T 64 rs772524912 0.5823 None gnomAD-2.1.1 4.03E-06
24565 47 A/T 64 rs772524912 0.5823 None gnomAD-3.1.2 6.58E-06
24565 47 A/T 64 rs772524912 0.5823 None gnomAD-4.0.0 2.56627E-06
24565 47 A/V 64 rs865844614 0.5823 None gnomAD-4.0.0 3.42362E-06
24566 48 Y/C 65 rs748869822 0.2020 None gnomAD-2.1.1 8.05E-06
24566 48 Y/C 65 rs748869822 0.2020 None gnomAD-4.0.0 3.1878E-06
24567 49 S/A 66 rs1415840930 0.4231 None gnomAD-2.1.1 4.03E-06
24567 49 S/A 66 rs1415840930 0.4231 None gnomAD-4.0.0 6.84665E-07
24567 49 S/P 66 None 0.4231 None gnomAD-4.0.0 2.054E-06
24569 51 V/D 68 None 0.2735 None gnomAD-4.0.0 1.20032E-06
24569 51 V/G 68 rs540403126 0.2735 None gnomAD-3.1.2 6.58E-06
24569 51 V/G 68 rs540403126 0.2735 None 1000 genomes 1.99681E-04
24569 51 V/G 68 rs540403126 0.2735 None gnomAD-4.0.0 6.57117E-06
24569 51 V/I 68 rs755676676 0.2735 None gnomAD-2.1.1 8.05E-06
24569 51 V/I 68 rs755676676 0.2735 None gnomAD-4.0.0 6.1613E-06
24569 51 V/L 68 rs755676676 0.2735 None gnomAD-2.1.1 1.61E-05
24569 51 V/L 68 rs755676676 0.2735 None gnomAD-3.1.2 1.32E-05
24569 51 V/L 68 rs755676676 0.2735 None gnomAD-4.0.0 1.24008E-05
24570 52 A/G 69 None 0.1302 None gnomAD-4.0.0 1.59325E-06
24571 53 T/A 70 rs752184535 0.6248 None gnomAD-2.1.1 4.03E-06
24571 53 T/A 70 rs752184535 0.6248 None gnomAD-4.0.0 1.59322E-06
24571 53 T/I 70 None 0.6248 None gnomAD-4.0.0 4.77992E-06
24573 55 C/Y 77 rs1240637296 0.0864 None gnomAD-2.1.1 4.03E-06
24574 56 H/L 83 rs754917150 0.6520 None gnomAD-2.1.1 4.03E-06
24575 57 K/R 88 rs766059820 0.7661 None gnomAD-2.1.1 8.05E-06
24575 57 K/R 88 rs766059820 0.7661 None gnomAD-3.1.2 6.57E-06
24575 57 K/R 88 rs766059820 0.7661 None gnomAD-4.0.0 3.84676E-06
24578 60 W/C 91 rs753105114 0.4354 None gnomAD-3.1.2 6.58E-06
24578 60 W/C 91 rs753105114 0.4354 None gnomAD-4.0.0 6.84538E-07
24578 60 W/R 91 rs1276766342 0.4354 None gnomAD-2.1.1 3.19E-05
24578 60 W/R 91 rs1276766342 0.4354 None gnomAD-3.1.2 6.57E-06
24578 60 W/R 91 rs1276766342 0.4354 None gnomAD-4.0.0 2.56448E-06
24580 62 V/A 93 rs141005138 0.1209 None gnomAD-2.1.1 8.05E-06
24580 62 V/A 93 rs141005138 0.1209 None gnomAD-3.1.2 1.97E-05
24580 62 V/A 93 rs141005138 0.1209 None 1000 genomes 3.99361E-04
24580 62 V/A 93 rs141005138 0.1209 None gnomAD-4.0.0 6.19933E-06
24580 62 V/I 93 rs765510494 0.1209 None gnomAD-2.1.1 4.03E-06
24580 62 V/I 93 rs765510494 0.1209 None gnomAD-4.0.0 1.20032E-06
24581 63 D/A 94 None 0.4856 None gnomAD-4.0.0 6.84517E-07
24581 63 D/E 94 rs727504603 0.4856 None gnomAD-2.1.1 4.03E-06
24581 63 D/E 94 rs727504603 0.4856 None gnomAD-4.0.0 2.46432E-05
24582 64 Q/H 96 None 0.7296 None gnomAD-4.0.0 6.84538E-07
24582 64 Q/P 96 rs375186364 0.7296 None gnomAD-2.1.1 4.03E-06
24582 64 Q/P 96 rs375186364 0.7296 None gnomAD-3.1.2 1.31E-05
24582 64 Q/P 96 rs375186364 0.7296 None gnomAD-4.0.0 1.30192E-05
24583 65 L/I 97 None 0.1221 None gnomAD-4.0.0 1.593E-06
24586 68 G/C 100 None 0.3230 None gnomAD-4.0.0 6.84538E-07
24586 68 G/S 100 None 0.3230 None gnomAD-4.0.0 6.84538E-07
24587 69 C/F 102 rs1326848733 0.2311 None gnomAD-3.1.2 6.57E-06
24587 69 C/F 102 rs1326848733 0.2311 None gnomAD-4.0.0 6.57307E-06
24587 69 C/R 102 rs776113871 0.2311 None gnomAD-2.1.1 1.61E-05
24587 69 C/R 102 rs776113871 0.2311 None gnomAD-4.0.0 4.1073E-06
24587 69 C/S 102 rs776113871 0.2311 None gnomAD-2.1.1 3.19E-05
24587 69 C/S 102 rs776113871 0.2311 None gnomAD-3.1.2 6.57E-06
24587 69 C/S 102 rs776113871 0.2311 None gnomAD-4.0.0 6.57289E-06
24587 69 C/Y 102 rs1326848733 0.2311 None gnomAD-4.0.0 6.84571E-07
24589 71 Y/C 104 rs368708895 0.1185 None gnomAD-2.1.1 4.03E-06
24589 71 Y/C 104 rs368708895 0.1185 None gnomAD-3.1.2 6.57E-06
24589 71 Y/C 104 rs368708895 0.1185 None gnomAD-4.0.0 4.34085E-06
24589 71 Y/H 104 rs371821218 0.1185 None gnomAD-2.1.1 2.5E-05
24589 71 Y/H 104 rs371821218 0.1185 None gnomAD-3.1.2 2.63E-05
24589 71 Y/H 104 rs371821218 0.1185 None gnomAD-4.0.0 1.73618E-05
24591 73 F/C 106 rs371513695 0.1098 None gnomAD-4.0.0 1.36951E-06
24592 74 R/K 107 rs1381595456 0.2158 None gnomAD-2.1.1 4.03E-06
24592 74 R/K 107 rs1381595456 0.2158 None gnomAD-4.0.0 6.84789E-07
24593 75 V/I 108 None 0.0832 None gnomAD-4.0.0 1.59448E-06
24595 77 A/T 110 rs543275318 0.1059 None gnomAD-2.1.1 2.57988E-04
24595 77 A/T 110 rs543275318 0.1059 None gnomAD-3.1.2 1.38038E-04
24595 77 A/T 110 rs543275318 0.1059 None gnomAD-4.0.0 1.24085E-04
24596 78 E/A 111 None 0.2095 None gnomAD-4.0.0 1.59586E-06
24596 78 E/K 111 rs758107705 0.2095 None gnomAD-4.0.0 2.74019E-06
24599 81 Y/H 114 rs754578013 0.3159 None gnomAD-2.1.1 3.19E-05
24599 81 Y/N 114 rs754578013 0.3159 None gnomAD-2.1.1 4.03E-06
24599 81 Y/N 114 rs754578013 0.3159 None gnomAD-4.0.0 1.59616E-06
24601 83 I/T 117 rs1021628897 0.5363 None gnomAD-2.1.1 3.19E-05
24601 83 I/T 117 rs1021628897 0.5363 None gnomAD-3.1.2 6.57E-06
24601 83 I/T 117 rs1021628897 0.5363 None gnomAD-4.0.0 1.86137E-06
24601 83 I/V 117 None 0.5363 None gnomAD-4.0.0 6.85229E-07
24602 84 G/R 118 rs758124616 0.1531 None gnomAD-2.1.1 4.03E-06
24602 84 G/R 118 rs758124616 0.1531 None gnomAD-4.0.0 1.59648E-06
24604 86 P/S 120 None 0.4056 None gnomAD-4.0.0 3.19777E-06
24606 88 E/Q 122 rs1466808448 0.3019 None gnomAD-2.1.1 3.19E-05
24606 88 E/Q 122 rs1466808448 0.3019 None gnomAD-3.1.2 6.57E-06
24606 88 E/Q 122 rs1466808448 0.3019 None gnomAD-4.0.0 6.57255E-06
24607 89 T/I 123 rs1286853195 0.1911 None gnomAD-3.1.2 6.57E-06
24607 89 T/I 123 rs1286853195 0.1911 None gnomAD-4.0.0 2.02998E-06
24608 90 A/T 124 rs750166986 0.7438 None gnomAD-2.1.1 1.43E-05
24608 90 A/T 124 rs750166986 0.7438 None gnomAD-3.1.2 3.95E-05
24608 90 A/T 124 rs750166986 0.7438 None gnomAD-4.0.0 1.55176E-05
24609 91 E/D 125 rs754097967 0.8637 None gnomAD-2.1.1 4.03E-06
24609 91 E/D 125 rs754097967 0.8637 None gnomAD-3.1.2 6.57E-06
24609 91 E/D 125 rs754097967 0.8637 None gnomAD-4.0.0 6.57376E-06
24609 91 E/K 125 rs55762754 0.8637 None gnomAD-2.1.1 8.07E-06
24609 91 E/K 125 rs55762754 0.8637 None gnomAD-3.1.2 6.57E-06
24609 91 E/K 125 rs55762754 0.8637 None gnomAD-4.0.0 1.86143E-06
24609 91 E/Q 125 rs55762754 0.8637 None gnomAD-2.1.1 3.33679E-03
24609 91 E/Q 125 rs55762754 0.8637 None gnomAD-3.1.2 3.02413E-03
24609 91 E/Q 125 rs55762754 0.8637 None 1000 genomes 1.59744E-03
24609 91 E/Q 125 rs55762754 0.8637 None gnomAD-4.0.0 2.94478E-03
24609 91 E/V 125 None 0.8637 None gnomAD-4.0.0 1.20032E-06
24610 92 S/C 126 None 0.2408 None gnomAD-4.0.0 1.59631E-06
24610 92 S/F 126 None 0.2408 None gnomAD-4.0.0 1.59631E-06
24611 93 V/L 127 rs760865833 0.2082 None gnomAD-2.1.1 1.21E-05
24611 93 V/L 127 rs760865833 0.2082 None gnomAD-4.0.0 2.05521E-06
24611 93 V/M 127 None 0.2082 None gnomAD-2.1.1 4.03E-06
24611 93 V/M 127 None 0.2082 None gnomAD-4.0.0 1.37014E-06
24612 94 K/T 129 None 0.4777 None gnomAD-4.0.0 1.59559E-06
24613 95 A/P 130 rs775856841 0.1203 None gnomAD-2.1.1 8.07E-06
24613 95 A/P 130 rs775856841 0.1203 None gnomAD-4.0.0 2.73989E-06
24613 95 A/T 130 rs775856841 0.1203 None gnomAD-4.0.0 2.05492E-06
24614 96 S/A 131 None 0.4005 None gnomAD-4.0.0 2.05445E-06
24614 96 S/P 131 rs759970555 0.4005 None gnomAD-2.1.1 4.03E-06
24614 96 S/P 131 rs759970555 0.4005 None gnomAD-4.0.0 6.84817E-07
24615 97 E/K 132 rs374131909 1.0065 None gnomAD-2.1.1 3.19E-05
24615 97 E/K 132 rs374131909 1.0065 None gnomAD-3.1.2 6.58E-06
24615 97 E/K 132 rs374131909 1.0065 None gnomAD-4.0.0 6.57557E-06
24615 97 E/Q 132 rs374131909 1.0065 None gnomAD-2.1.1 4.03E-06
24615 97 E/Q 132 rs374131909 1.0065 None gnomAD-4.0.0 1.36952E-06