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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8643 1 P/H 1 rs746681999 0.0949 None gnomAD-4.0.0 6.90654E-07
8643 1 P/R 1 rs746681999 0.0949 None gnomAD-2.1.1 4.21E-06
8643 1 P/R 1 rs746681999 0.0949 None gnomAD-4.0.0 1.72663E-05
8643 1 P/S 1 rs754532440 0.0949 None gnomAD-2.1.1 8.42E-06
8643 1 P/S 1 rs754532440 0.0949 None gnomAD-4.0.0 1.79559E-05
8644 2 I/T 2 rs779643078 0.4479 None gnomAD-2.1.1 4.18E-06
8644 2 I/T 2 rs779643078 0.4479 None gnomAD-4.0.0 1.62272E-06
8644 2 I/V 2 rs2077304950 0.4479 None gnomAD-4.0.0 1.20032E-06
8646 4 R/C 4 rs72648987 0.6068 None gnomAD-2.1.1 1.65369E-02
8646 4 R/C 4 rs72648987 0.6068 None gnomAD-3.1.2 1.65713E-02
8646 4 R/C 4 rs72648987 0.6068 None 1000 genomes 9.38498E-03
8646 4 R/C 4 rs72648987 0.6068 None gnomAD-4.0.0 1.88575E-02
8646 4 R/H 4 rs144587343 0.6068 None gnomAD-2.1.1 7.37E-05
8646 4 R/H 4 rs144587343 0.6068 None gnomAD-3.1.2 1.64619E-04
8646 4 R/H 4 rs144587343 0.6068 None 1000 genomes 3.99361E-04
8646 4 R/H 4 rs144587343 0.6068 None gnomAD-4.0.0 1.07994E-04
8646 4 R/L 4 rs144587343 0.6068 None gnomAD-3.1.2 6.58E-06
8646 4 R/L 4 rs144587343 0.6068 None gnomAD-4.0.0 1.24858E-06
8647 5 K/R 5 None 0.4520 None gnomAD-4.0.0 1.37709E-06
8648 6 K/E 7 rs188234466 0.4748 None gnomAD-2.1.1 4.56E-05
8648 6 K/E 7 rs188234466 0.4748 None gnomAD-3.1.2 7.23E-05
8648 6 K/E 7 rs188234466 0.4748 None 1000 genomes 5.99042E-04
8648 6 K/E 7 rs188234466 0.4748 None gnomAD-4.0.0 2.24337E-05
8648 6 K/M 7 rs2077303070 0.4748 None gnomAD-3.1.2 1.31E-05
8648 6 K/M 7 rs2077303070 0.4748 None gnomAD-4.0.0 1.31461E-05
8649 7 P/L 8 rs1414275142 0.1979 None gnomAD-2.1.1 4.14E-06
8649 7 P/L 8 rs1414275142 0.1979 None gnomAD-4.0.0 1.61329E-06
8650 8 H/N 9 None 0.8472 None gnomAD-4.0.0 1.20032E-06
8650 8 H/Q 9 rs372385679 0.8472 None gnomAD-2.1.1 4.1E-06
8650 8 H/R 9 None 0.8472 None gnomAD-4.0.0 3.22006E-06
8650 8 H/Y 9 None 0.8472 None gnomAD-4.0.0 7.20195E-06
8651 9 P/L 11 rs368758220 0.6199 None gnomAD-2.1.1 4.1E-06
8651 9 P/L 11 rs368758220 0.6199 None gnomAD-3.1.2 6.57E-06
8651 9 P/L 11 rs368758220 0.6199 None gnomAD-4.0.0 2.58533E-06
8652 10 I/M 13 rs760452917 0.2672 None gnomAD-2.1.1 1.17649E-04
8652 10 I/M 13 rs760452917 0.2672 None gnomAD-3.1.2 1.97E-05
8652 10 I/M 13 rs760452917 0.2672 None gnomAD-4.0.0 5.02958E-05
8652 10 I/V 13 rs763953118 0.2672 None gnomAD-2.1.1 1.22E-05
8652 10 I/V 13 rs763953118 0.2672 None gnomAD-3.1.2 1.31E-05
8652 10 I/V 13 rs763953118 0.2672 None gnomAD-4.0.0 3.10478E-06
8653 11 E/D 14 rs879235743 0.5264 None gnomAD-2.1.1 3.19E-05
8653 11 E/D 14 rs879235743 0.5264 None gnomAD-3.1.2 6.58E-06
8653 11 E/D 14 rs879235743 0.5264 None gnomAD-4.0.0 2.56592E-06
8653 11 E/G 14 None 0.5264 None gnomAD-4.0.0 2.40064E-06
8653 11 E/K 14 None 0.5264 None gnomAD-4.0.0 1.60023E-06
8653 11 E/Q 14 rs566740788 0.5264 None gnomAD-2.1.1 4.06E-06
8653 11 E/Q 14 rs566740788 0.5264 None gnomAD-3.1.2 6.58E-06
8653 11 E/Q 14 rs566740788 0.5264 None 1000 genomes 1.99681E-04
8653 11 E/Q 14 rs566740788 0.5264 None gnomAD-4.0.0 2.57369E-06
8654 12 T/I 16 rs547017929 0.1765 None gnomAD-2.1.1 1.32847E-04
8654 12 T/I 16 rs547017929 0.1765 None gnomAD-3.1.2 1.97E-05
8654 12 T/I 16 rs547017929 0.1765 None 1000 genomes 3.99361E-04
8654 12 T/I 16 rs547017929 0.1765 None gnomAD-4.0.0 4.58689E-05
8654 12 T/R 16 None 0.1765 None gnomAD-4.0.0 6.84442E-07
8655 13 L/P 18 rs759578526 0.7723 None gnomAD-2.1.1 4.02E-06
8655 13 L/P 18 rs759578526 0.7723 None gnomAD-4.0.0 1.36866E-06
8655 13 L/R 18 None 0.7723 None gnomAD-4.0.0 6.84328E-07
8657 15 G/A 24 rs766866317 0.3043 None gnomAD-4.0.0 4.8013E-06
8657 15 G/E 24 rs766866317 0.3043 None gnomAD-4.0.0 1.20032E-06
8658 16 A/P 25 rs1182186384 0.2466 None gnomAD-2.1.1 4.02E-06
8658 16 A/P 25 rs1182186384 0.2466 None gnomAD-4.0.0 2.0529E-06
8658 16 A/V 25 None 0.2466 None gnomAD-4.0.0 3.18338E-06
8659 17 D/N 26 rs774443573 0.5548 None gnomAD-2.1.1 8.04E-06
8659 17 D/N 26 rs774443573 0.5548 None gnomAD-4.0.0 4.77512E-06
8659 17 D/V 26 rs1276014518 0.5548 None gnomAD-2.1.1 1.21E-05
8659 17 D/V 26 rs1276014518 0.5548 None gnomAD-4.0.0 6.36659E-06
8660 18 V/A 28 None 0.1552 None gnomAD-4.0.0 2.40065E-06
8660 18 V/I 28 rs141856116 0.1552 None gnomAD-2.1.1 1.49573E-03
8660 18 V/I 28 rs141856116 0.1552 None gnomAD-3.1.2 3.46405E-03
8660 18 V/I 28 rs141856116 0.1552 None 1000 genomes 3.79393E-03
8660 18 V/I 28 rs141856116 0.1552 None gnomAD-4.0.0 1.02997E-03
8661 19 H/Y 29 None 0.3066 None gnomAD-4.0.0 1.20032E-06
8665 23 E/G 34 rs1226104343 0.3792 None gnomAD-2.1.1 8.04E-06
8665 23 E/G 34 rs1226104343 0.3792 None gnomAD-4.0.0 1.91592E-05
8666 24 L/F 35 None 0.0973 None gnomAD-4.0.0 2.73703E-06
8667 25 Q/E 38 None 0.3481 None gnomAD-4.0.0 1.5915E-06
8668 26 G/A 40 None 0.0983 None gnomAD-4.0.0 1.59146E-06
8669 27 T/I 41 rs773386252 0.2226 None gnomAD-2.1.1 4.02E-06
8669 27 T/S 41 rs773386252 0.2226 None gnomAD-2.1.1 4.02E-06
8669 27 T/S 41 rs773386252 0.2226 None gnomAD-4.0.0 1.59147E-06
8670 28 P/A 42 rs1577904664 0.2592 None gnomAD-4.0.0 5.47397E-06
8670 28 P/H 42 rs770195041 0.2592 None gnomAD-2.1.1 4.02E-06
8670 28 P/H 42 rs770195041 0.2592 None gnomAD-3.1.2 6.57E-06
8670 28 P/H 42 rs770195041 0.2592 None gnomAD-4.0.0 1.23948E-06
8670 28 P/L 42 rs770195041 0.2592 None gnomAD-4.0.0 1.36849E-05
8670 28 P/S 42 None 0.2592 None gnomAD-4.0.0 6.84246E-07
8670 28 P/T 42 None 0.2592 None gnomAD-4.0.0 1.36849E-06
8671 29 P/A 43 rs373927854 0.7724 None gnomAD-2.1.1 4.02E-06
8671 29 P/L 43 rs2077292301 0.7724 None gnomAD-4.0.0 1.59142E-06
8671 29 P/S 43 None 0.7724 None gnomAD-4.0.0 2.40065E-06
8673 31 H/Q 45 rs370266918 0.7941 None gnomAD-2.1.1 4.02E-06
8673 31 H/Q 45 rs370266918 0.7941 None gnomAD-4.0.0 1.36848E-06
8674 32 V/D 46 None 0.2364 None gnomAD-4.0.0 1.20032E-06
8674 32 V/I 46 rs375710902 0.2364 None gnomAD-2.1.1 2.14E-05
8674 32 V/I 46 rs375710902 0.2364 None gnomAD-3.1.2 2.63E-05
8674 32 V/I 46 rs375710902 0.2364 None gnomAD-4.0.0 6.81711E-06
8674 32 V/L 46 None 0.2364 None gnomAD-4.0.0 1.36848E-06
8675 33 S/F 47 rs868429008 0.2170 None gnomAD-2.1.1 4.02E-06
8675 33 S/F 47 rs868429008 0.2170 None gnomAD-3.1.2 6.57E-06
8675 33 S/F 47 rs868429008 0.2170 None gnomAD-4.0.0 2.56254E-06
8676 34 W/R 48 None 0.1280 None gnomAD-4.0.0 1.20032E-06
8677 35 Y/C 49 rs778578388 0.2627 None gnomAD-2.1.1 1.21E-05
8677 35 Y/C 49 rs778578388 0.2627 None gnomAD-4.0.0 4.51598E-05
8678 36 K/E 50 rs2077288683 0.1457 None gnomAD-3.1.2 6.57E-06
8678 36 K/E 50 rs2077288683 0.1457 None gnomAD-4.0.0 2.5623E-06
8678 36 K/T 50 rs1208054129 0.1457 None gnomAD-3.1.2 6.57E-06
8678 36 K/T 50 rs1208054129 0.1457 None gnomAD-4.0.0 5.12478E-06
8679 37 D/A 51 rs373587266 0.6672 None gnomAD-3.1.2 6.57E-06
8679 37 D/A 51 rs373587266 0.6672 None gnomAD-4.0.0 6.56564E-06
8679 37 D/V 51 None 0.6672 None gnomAD-4.0.0 1.5914E-06
8682 40 E/Q 56 None 0.4006 None gnomAD-4.0.0 1.20032E-06
8683 41 L/F 58 rs932810095 0.1697 None gnomAD-3.1.2 2.63E-05
8683 41 L/F 58 rs932810095 0.1697 None gnomAD-4.0.0 4.33812E-06
8683 41 L/V 58 rs932810095 0.1697 None gnomAD-2.1.1 1.07E-05
8683 41 L/V 58 rs932810095 0.1697 None gnomAD-3.1.2 6.57E-06
8683 41 L/V 58 rs932810095 0.1697 None gnomAD-4.0.0 1.67328E-05
8684 42 R/M 59 rs1185236077 0.8201 None gnomAD-2.1.1 4.02E-06
8684 42 R/M 59 rs1185236077 0.8201 None gnomAD-4.0.0 1.36848E-06
8685 43 S/G 70 None 0.4766 None gnomAD-4.0.0 6.84234E-07
8685 43 S/R 70 rs878932254 0.4766 None gnomAD-2.1.1 4.02E-06
8685 43 S/R 70 rs878932254 0.4766 None gnomAD-4.0.0 3.42117E-06
8685 43 S/T 70 None 0.4766 None gnomAD-4.0.0 1.59143E-06
8686 44 G/A 73 None 0.3418 None gnomAD-4.0.0 6.84242E-07
8686 44 G/S 73 rs370578197 0.3418 None gnomAD-2.1.1 8.92E-05
8686 44 G/S 73 rs370578197 0.3418 None gnomAD-3.1.2 5.26E-05
8686 44 G/S 73 rs370578197 0.3418 None gnomAD-4.0.0 3.0988E-05
8686 44 G/V 73 None 0.3418 None gnomAD-4.0.0 1.36848E-06
8687 45 K/N 102 None 1.0894 None gnomAD-4.0.0 1.20032E-06
8687 45 K/Q 102 rs753822494 1.0894 None gnomAD-2.1.1 4.02E-06
8687 45 K/Q 102 rs753822494 1.0894 None gnomAD-3.1.2 1.31E-05
8687 45 K/Q 102 rs753822494 1.0894 None gnomAD-4.0.0 4.05977E-06
8689 47 Y/C 121 None 0.2461 None gnomAD-4.0.0 1.20032E-06
8690 48 K/E 122 rs1060500411 0.3784 None gnomAD-2.1.1 4.02E-06
8690 48 K/E 122 rs1060500411 0.3784 None gnomAD-4.0.0 3.18278E-06
8690 48 K/R 122 rs755911258 0.3784 None gnomAD-2.1.1 4.02E-06
8690 48 K/R 122 rs755911258 0.3784 None gnomAD-4.0.0 1.36847E-06
8691 49 I/M 123 None 0.2123 None gnomAD-4.0.0 1.36848E-06
8691 49 I/R 123 rs1354912931 0.2123 None gnomAD-2.1.1 4.02E-06
8691 49 I/R 123 rs1354912931 0.2123 None gnomAD-4.0.0 6.84234E-07
8691 49 I/T 123 None 0.2123 None gnomAD-4.0.0 2.0527E-06
8691 49 I/V 123 None 0.2123 None gnomAD-4.0.0 2.40064E-06
8692 50 M/I 125 rs1041074010 0.4531 None gnomAD-4.0.0 1.16321E-05
8693 51 S/P 127 None 0.4412 None gnomAD-4.0.0 1.20032E-06
8694 52 E/Q 130 rs373247663 0.8005 None gnomAD-2.1.1 4.02E-06
8695 53 N/D 131 rs767736451 0.6326 None gnomAD-2.1.1 1.21E-05
8695 53 N/D 131 rs767736451 0.6326 None gnomAD-3.1.2 6.57E-06
8695 53 N/D 131 rs767736451 0.6326 None gnomAD-4.0.0 9.91551E-06
8695 53 N/K 131 None 0.6326 None gnomAD-4.0.0 1.59141E-06
8697 55 L/R 135 rs1364653469 0.4433 None gnomAD-2.1.1 8.04E-06
8697 55 L/R 135 rs1364653469 0.4433 None gnomAD-4.0.0 3.18283E-06
8698 56 T/S 136 rs751582645 0.1209 None gnomAD-2.1.1 4.02E-06
8698 56 T/S 136 rs751582645 0.1209 None gnomAD-4.0.0 1.59141E-06
8699 57 S/G 137 rs1164228016 0.1199 None gnomAD-2.1.1 4.02E-06
8699 57 S/G 137 rs1164228016 0.1199 None gnomAD-4.0.0 1.59143E-06
8699 57 S/N 137 rs1311071697 0.1199 None gnomAD-4.0.0 1.23162E-05
8700 58 I/N 138 rs1404662292 0.0622 None gnomAD-2.1.1 4.02E-06
8700 58 I/N 138 rs1404662292 0.0622 None gnomAD-4.0.0 1.59141E-06
8700 58 I/V 138 None 0.0622 None gnomAD-4.0.0 1.36847E-06
8702 60 I/V 140 rs1560608555 0.0746 None gnomAD-2.1.1 4.02E-06
8702 60 I/V 140 rs1560608555 0.0746 None gnomAD-4.0.0 3.18287E-06
8703 61 L/P 141 None 0.3709 None gnomAD-4.0.0 1.5915E-06
8706 64 D/N 145 rs377074955 0.3672 None gnomAD-2.1.1 2.01E-05
8706 64 D/N 145 rs377074955 0.3672 None gnomAD-3.1.2 1.31E-05
8706 64 D/N 145 rs377074955 0.3672 None gnomAD-4.0.0 3.9665E-05
8706 64 D/V 145 rs763090296 0.3672 None gnomAD-2.1.1 8.04E-06
8706 64 D/V 145 rs763090296 0.3672 None gnomAD-4.0.0 3.18302E-06
8707 65 A/V 146 rs773760649 0.5721 None gnomAD-2.1.1 1.21E-05
8707 65 A/V 146 rs773760649 0.5721 None gnomAD-3.1.2 1.31E-05
8707 65 A/V 146 rs773760649 0.5721 None gnomAD-4.0.0 4.95808E-06
8708 66 A/T 148 rs2077272281 0.4815 None gnomAD-3.1.2 6.57E-06
8708 66 A/T 148 rs2077272281 0.4815 None gnomAD-4.0.0 3.0988E-06
8708 66 A/V 148 rs770253655 0.4815 None gnomAD-2.1.1 2.41E-05
8708 66 A/V 148 rs770253655 0.4815 None gnomAD-4.0.0 9.54934E-06
8709 67 D/V 149 rs1444153454 0.1485 None gnomAD-2.1.1 3.19E-05
8709 67 D/V 149 rs1444153454 0.1485 None gnomAD-3.1.2 6.57E-06
8709 67 D/V 149 rs1444153454 0.1485 None gnomAD-4.0.0 6.5741E-06
8710 68 I/F 151 None 0.2526 None gnomAD-4.0.0 1.20032E-06
8710 68 I/L 151 rs530696557 0.2526 None gnomAD-2.1.1 4.02E-06
8710 68 I/L 151 rs530696557 0.2526 None 1000 genomes 1.99681E-04
8710 68 I/M 151 None 0.2526 None gnomAD-4.0.0 1.20032E-06
8711 69 G/R 152 rs1220276093 0.2624 None gnomAD-2.1.1 4.02E-06
8711 69 G/R 152 rs1220276093 0.2624 None gnomAD-4.0.0 1.59173E-06
8712 70 E/K 153 None 0.7032 None gnomAD-4.0.0 1.20032E-06
8713 71 Y/C 154 rs1294600680 0.1265 None gnomAD-2.1.1 4.02E-06
8713 71 Y/C 154 rs1294600680 0.1265 None gnomAD-4.0.0 1.59176E-06
8713 71 Y/D 154 None 0.1265 None gnomAD-4.0.0 1.20032E-06
8714 72 Q/E 155 None 0.4370 None gnomAD-4.0.0 1.59179E-06
8714 72 Q/H 155 rs2077266939 0.4370 None gnomAD-4.0.0 2.40064E-06
8715 73 C/F 156 rs183499397 0.0578 None gnomAD-2.1.1 2.82E-05
8715 73 C/F 156 rs183499397 0.0578 None gnomAD-3.1.2 1.31E-05
8715 73 C/F 156 rs183499397 0.0578 None gnomAD-4.0.0 2.10733E-05
8715 73 C/R 156 rs2077266576 0.0578 None gnomAD-3.1.2 6.57E-06
8715 73 C/R 156 rs2077266576 0.0578 None gnomAD-4.0.0 3.84458E-06
8715 73 C/Y 156 rs183499397 0.0578 None gnomAD-2.1.1 6.79E-05
8715 73 C/Y 156 rs183499397 0.0578 None gnomAD-3.1.2 5.26E-05
8715 73 C/Y 156 rs183499397 0.0578 None 1000 genomes 1.99681E-04
8715 73 C/Y 156 rs183499397 0.0578 None gnomAD-4.0.0 1.92125E-05
8719 77 N/D 161 rs770551201 0.1440 None gnomAD-2.1.1 8.06E-06
8719 77 N/D 161 rs770551201 0.1440 None gnomAD-4.0.0 2.05336E-06
8720 78 D/N 162 rs980079508 0.7339 None gnomAD-2.1.1 4.03E-06
8720 78 D/N 162 rs980079508 0.7339 None gnomAD-4.0.0 2.05364E-06
8720 78 D/Y 162 rs980079508 0.7339 None gnomAD-4.0.0 2.73818E-06
8721 79 V/M 163 rs777730788 0.2255 None gnomAD-2.1.1 2.29894E-04
8721 79 V/M 163 rs777730788 0.2255 None gnomAD-3.1.2 5.26E-05
8721 79 V/M 163 rs777730788 0.2255 None gnomAD-4.0.0 1.08498E-04
8722 80 G/R 164 None 0.2364 None gnomAD-4.0.0 1.59352E-06
8723 81 S/R 165 rs1304915212 0.3983 None gnomAD-3.1.2 6.57E-06
8723 81 S/R 165 rs1304915212 0.3983 None gnomAD-4.0.0 1.20032E-06
8724 82 D/E 166 rs752485826 0.2155 None gnomAD-2.1.1 4.04E-06
8724 82 D/E 166 rs752485826 0.2155 None gnomAD-4.0.0 6.84888E-07
8724 82 D/N 166 rs756034176 0.2155 None gnomAD-2.1.1 1.21E-05
8724 82 D/N 166 rs756034176 0.2155 None gnomAD-4.0.0 4.79472E-06
8724 82 D/Y 166 rs756034176 0.2155 None gnomAD-2.1.1 8.09E-06
8724 82 D/Y 166 rs756034176 0.2155 None gnomAD-4.0.0 6.84961E-06
8725 83 T/I 168 rs1342253967 0.3824 None gnomAD-3.1.2 4.6E-05
8725 83 T/I 168 rs1342253967 0.3824 None gnomAD-4.0.0 1.54037E-05
8725 83 T/S 168 None 0.3824 None gnomAD-4.0.0 1.59528E-06
8726 84 C/W 169 None 0.0851 None gnomAD-4.0.0 2.05571E-06
8726 84 C/Y 169 rs786205399 0.0851 None gnomAD-2.1.1 3.19E-05
8726 84 C/Y 169 rs786205399 0.0851 None gnomAD-3.1.2 6.57E-06
8726 84 C/Y 169 rs786205399 0.0851 None gnomAD-4.0.0 2.02991E-06
8727 85 V/F 171 rs544958705 0.4117 None gnomAD-4.0.0 3.42702E-06
8727 85 V/G 171 None 0.4117 None gnomAD-4.0.0 1.597E-06
8727 85 V/I 171 rs544958705 0.4117 None gnomAD-2.1.1 1.08E-05
8727 85 V/I 171 rs544958705 0.4117 None gnomAD-3.1.2 1.97E-05
8727 85 V/I 171 rs544958705 0.4117 None 1000 genomes 1.99681E-04
8727 85 V/I 171 rs544958705 0.4117 None gnomAD-4.0.0 1.05509E-05
8729 87 S/F 173 rs1429923693 0.3044 None gnomAD-2.1.1 4.07E-06
8729 87 S/F 173 rs1429923693 0.3044 None gnomAD-4.0.0 1.60083E-06
8731 89 A/P 175 rs1013992395 0.2714 None gnomAD-3.1.2 6.57E-06
8731 89 A/P 175 rs1013992395 0.2714 None gnomAD-4.0.0 6.57315E-06
8731 89 A/S 175 None 0.2714 None gnomAD-4.0.0 1.37455E-06
8731 89 A/T 175 rs1013992395 0.2714 None gnomAD-2.1.1 8.23E-06
8731 89 A/T 175 rs1013992395 0.2714 None gnomAD-3.1.2 6.57E-06
8731 89 A/T 175 rs1013992395 0.2714 None gnomAD-4.0.0 9.95547E-06
8731 89 A/V 175 rs1479171654 0.2714 None gnomAD-2.1.1 4.11E-06
8731 89 A/V 175 rs1479171654 0.2714 None gnomAD-4.0.0 4.82279E-06
8732 90 L/P 177 None 0.4662 None gnomAD-4.0.0 1.20032E-06