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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6 1 P/L 1 rs201490999 0.1070 None gnomAD-2.1.1 1.2E-05
6 1 P/L 1 rs201490999 0.1070 None gnomAD-3.1.2 1.31E-05
6 1 P/L 1 rs201490999 0.1070 None gnomAD-4.0.0 3.53224E-05
7 2 T/A 2 rs752073551 0.2046 None gnomAD-2.1.1 7.97E-06
7 2 T/A 2 rs752073551 0.2046 None gnomAD-4.0.0 1.59103E-06
7 2 T/K 2 rs761344572 0.2046 None gnomAD-2.1.1 3.98E-06
7 2 T/K 2 rs761344572 0.2046 None gnomAD-4.0.0 1.36833E-06
7 2 T/M 2 rs761344572 0.2046 None gnomAD-2.1.1 1.2E-05
7 2 T/M 2 rs761344572 0.2046 None gnomAD-4.0.0 1.29992E-05
7 2 T/R 2 None 0.2046 None gnomAD-4.0.0 6.84166E-07
8 3 F/I 3 None 0.1222 None gnomAD-4.0.0 1.20032E-06
9 4 T/K 4 rs146123323 0.4320 None gnomAD-3.1.2 6.57E-06
9 4 T/K 4 rs146123323 0.4320 None gnomAD-4.0.0 6.57134E-06
9 4 T/M 4 rs146123323 0.4320 None gnomAD-2.1.1 3.19E-05
9 4 T/M 4 rs146123323 0.4320 None gnomAD-3.1.2 2.63E-05
9 4 T/M 4 rs146123323 0.4320 None gnomAD-4.0.0 1.05341E-05
9 4 T/S 4 rs1298028827 0.4320 None gnomAD-2.1.1 7.97E-06
9 4 T/S 4 rs1298028827 0.4320 None gnomAD-4.0.0 2.73662E-06
10 5 Q/H 5 None 0.2155 None gnomAD-4.0.0 1.59093E-06
10 5 Q/R 5 None 0.2155 None gnomAD-4.0.0 1.59096E-06
11 6 P/A 7 None 0.1582 None gnomAD-4.0.0 1.36829E-06
11 6 P/L 7 rs768624416 0.1582 None gnomAD-2.1.1 7.97E-06
11 6 P/L 7 rs768624416 0.1582 None gnomAD-3.1.2 3.29E-05
11 6 P/L 7 rs768624416 0.1582 None gnomAD-4.0.0 2.72645E-05
11 6 P/S 7 rs775206165 0.1582 None gnomAD-2.1.1 2.83E-05
11 6 P/S 7 rs775206165 0.1582 None gnomAD-3.1.2 6.57E-06
11 6 P/S 7 rs775206165 0.1582 None gnomAD-4.0.0 9.29457E-06
12 7 L/S 8 None 0.0895 None gnomAD-4.0.0 1.20032E-06
14 9 S/I 11 rs771027745 0.0876 None gnomAD-2.1.1 3.98E-06
14 9 S/I 11 rs771027745 0.0876 None gnomAD-4.0.0 5.47299E-06
14 9 S/N 11 rs771027745 0.0876 None gnomAD-4.0.0 6.84124E-07
15 10 V/A 13 rs1471462382 0.1240 None gnomAD-2.1.1 1.19E-05
15 10 V/A 13 rs1471462382 0.1240 None gnomAD-4.0.0 4.10473E-06
15 10 V/I 13 rs201857541 0.1240 None gnomAD-2.1.1 1.48668E-04
15 10 V/I 13 rs201857541 0.1240 None gnomAD-3.1.2 1.11741E-04
15 10 V/I 13 rs201857541 0.1240 None 1000 genomes 1.99681E-04
15 10 V/I 13 rs201857541 0.1240 None gnomAD-4.0.0 9.23189E-05
16 11 V/M 14 rs756212082 0.2320 None gnomAD-2.1.1 2.12E-05
16 11 V/M 14 rs756212082 0.2320 None gnomAD-3.1.2 1.97E-05
16 11 V/M 14 rs756212082 0.2320 None gnomAD-4.0.0 2.04472E-05
17 12 V/A 16 None 0.1199 None gnomAD-4.0.0 1.20032E-06
17 12 V/I 16 None 0.1199 None gnomAD-4.0.0 1.20032E-06
18 13 L/R 18 rs748322000 0.2207 None gnomAD-2.1.1 7.08E-06
18 13 L/R 18 rs748322000 0.2207 None gnomAD-3.1.2 2.63E-05
18 13 L/R 18 rs748322000 0.2207 None gnomAD-4.0.0 7.68421E-06
19 14 E/D 23 rs781416228 0.3034 None gnomAD-2.1.1 3.98E-06
19 14 E/D 23 rs781416228 0.3034 None gnomAD-4.0.0 2.05234E-06
19 14 E/G 23 rs954288080 0.3034 None gnomAD-2.1.1 3.98E-06
19 14 E/G 23 rs954288080 0.3034 None gnomAD-4.0.0 1.59072E-06
20 15 G/D 24 None 0.3496 None gnomAD-4.0.0 1.20032E-06
21 16 S/T 25 rs1211610408 0.2626 None gnomAD-2.1.1 3.98E-06
21 16 S/T 25 rs1211610408 0.2626 None gnomAD-4.0.0 6.84119E-07
22 17 T/A 26 rs1305775594 0.3704 None gnomAD-2.1.1 3.98E-06
22 17 T/A 26 rs1305775594 0.3704 None gnomAD-4.0.0 6.84113E-07
22 17 T/I 26 None 0.3704 None gnomAD-4.0.0 6.84117E-07
23 18 A/T 28 rs147812158 0.1097 None gnomAD-2.1.1 3.98E-06
23 18 A/T 28 rs147812158 0.1097 None gnomAD-3.1.2 1.97E-05
23 18 A/T 28 rs147812158 0.1097 None gnomAD-4.0.0 9.29486E-06
24 19 T/I 29 rs536235994 0.3062 None gnomAD-2.1.1 7.97E-06
24 19 T/I 29 rs536235994 0.3062 None gnomAD-3.1.2 6.57E-06
24 19 T/I 29 rs536235994 0.3062 None gnomAD-4.0.0 4.33741E-06
24 19 T/N 29 None 0.3062 None gnomAD-2.1.1 1.59E-05
24 19 T/N 29 None 0.3062 None gnomAD-3.1.2 1.31E-05
24 19 T/N 29 None 0.3062 None gnomAD-4.0.0 1.05337E-05
24 19 T/P 29 rs758953324 0.3062 None gnomAD-2.1.1 1.19E-05
24 19 T/P 29 rs758953324 0.3062 None gnomAD-4.0.0 6.15713E-06
24 19 T/S 29 rs536235994 0.3062 None gnomAD-2.1.1 7.97E-06
24 19 T/S 29 rs536235994 0.3062 None gnomAD-4.0.0 1.16301E-05
25 20 F/V 30 None 0.0893 None gnomAD-4.0.0 2.40064E-06
27 22 A/V 33 rs760167840 0.1099 None gnomAD-2.1.1 1.2E-05
27 22 A/V 33 rs760167840 0.1099 None gnomAD-3.1.2 1.97E-05
27 22 A/V 33 rs760167840 0.1099 None gnomAD-4.0.0 8.96567E-06
28 23 H/D 34 rs752309578 0.3386 None gnomAD-2.1.1 3.98E-06
28 23 H/Y 34 None 0.3386 None gnomAD-4.0.0 1.20036E-06
29 24 I/F 35 None 0.1205 None gnomAD-4.0.0 1.36834E-06
29 24 I/V 35 rs1458992819 0.1205 None gnomAD-2.1.1 3.98E-06
29 24 I/V 35 rs1458992819 0.1205 None gnomAD-4.0.0 3.42086E-06
30 25 S/N 38 rs767153909 0.3222 None gnomAD-2.1.1 3.99E-06
30 25 S/N 38 rs767153909 0.3222 None gnomAD-4.0.0 8.21017E-06
31 26 G/D 40 None 0.1281 None gnomAD-4.0.0 1.59167E-06
35 30 P/A 44 rs779420414 0.1113 None gnomAD-2.1.1 1.6E-05
35 30 P/A 44 rs779420414 0.1113 None gnomAD-4.0.0 6.36349E-06
35 30 P/L 44 rs755605142 0.1113 None gnomAD-2.1.1 7.97E-06
35 30 P/L 44 rs755605142 0.1113 None gnomAD-4.0.0 3.18161E-06
35 30 P/T 44 rs779420414 0.1113 None gnomAD-2.1.1 3.99E-06
35 30 P/T 44 rs779420414 0.1113 None gnomAD-3.1.2 6.57E-06
35 30 P/T 44 rs779420414 0.1113 None gnomAD-4.0.0 6.57082E-06
36 31 E/K 45 rs2094110497 0.5781 None gnomAD-4.0.0 1.59079E-06
37 32 V/G 46 None 0.2348 None gnomAD-4.0.0 1.08131E-05
38 33 S/N 47 None 0.2794 None gnomAD-4.0.0 1.59066E-06
38 33 S/R 47 None 0.2794 None gnomAD-4.0.0 1.59063E-06
40 35 F/V 49 None 0.2037 None gnomAD-4.0.0 1.59061E-06
42 37 D/E 51 None 0.4139 None gnomAD-4.0.0 1.20032E-06
42 37 D/G 51 rs200838218 0.4139 None gnomAD-2.1.1 3.98E-06
42 37 D/G 51 rs200838218 0.4139 None gnomAD-4.0.0 2.05223E-06
42 37 D/N 51 rs759317260 0.4139 None gnomAD-2.1.1 3.98E-06
42 37 D/N 51 rs759317260 0.4139 None gnomAD-3.1.2 6.57E-06
42 37 D/N 51 rs759317260 0.4139 None gnomAD-4.0.0 1.85874E-06
43 38 G/C 52 None 0.3072 None gnomAD-4.0.0 2.40064E-06
44 39 Q/L 55 rs867308852 0.4576 None gnomAD-2.1.1 2.79E-05
44 39 Q/L 55 rs867308852 0.4576 None gnomAD-3.1.2 6.57E-06
44 39 Q/L 55 rs867308852 0.4576 None gnomAD-4.0.0 5.57617E-06
44 39 Q/R 55 rs867308852 0.4576 None gnomAD-3.1.2 6.57E-06
44 39 Q/R 55 rs867308852 0.4576 None gnomAD-4.0.0 2.4783E-06
45 40 V/L 56 rs142028110 0.3429 None gnomAD-2.1.1 2.83E-05
45 40 V/L 56 rs142028110 0.3429 None gnomAD-3.1.2 4.6E-05
45 40 V/L 56 rs142028110 0.3429 None gnomAD-4.0.0 6.84074E-07
45 40 V/M 56 None 0.3429 None gnomAD-4.0.0 6.84074E-07
48 43 T/A 70 None 0.5006 None gnomAD-4.0.0 2.73628E-06
48 43 T/I 70 rs1295047971 0.5006 None gnomAD-2.1.1 3.98E-06
48 43 T/I 70 rs1295047971 0.5006 None gnomAD-4.0.0 1.20032E-06
48 43 T/P 70 None 0.5006 None gnomAD-4.0.0 6.84069E-07
49 44 S/F 73 rs368887734 0.6573 None gnomAD-2.1.1 3.98E-06
49 44 S/F 73 rs368887734 0.6573 None gnomAD-3.1.2 6.57E-06
49 44 S/F 73 rs368887734 0.6573 None gnomAD-4.0.0 6.57004E-06
49 44 S/P 73 rs531066665 0.6573 None gnomAD-2.1.1 1.19E-05
49 44 S/P 73 rs531066665 0.6573 None gnomAD-3.1.2 6.57E-06
49 44 S/P 73 rs531066665 0.6573 None 1000 genomes 1.99681E-04
49 44 S/P 73 rs531066665 0.6573 None gnomAD-4.0.0 3.40742E-05
49 44 S/Y 73 rs368887734 0.6573 None gnomAD-3.1.2 1.97E-05
49 44 S/Y 73 rs368887734 0.6573 None gnomAD-4.0.0 5.12205E-06
50 45 T/P 102 rs1217255349 0.3495 None gnomAD-2.1.1 3.19E-05
50 45 T/P 102 rs1217255349 0.3495 None gnomAD-3.1.2 1.32E-05
50 45 T/P 102 rs1217255349 0.3495 None gnomAD-4.0.0 1.31744E-05
50 45 T/S 102 None 0.3495 None gnomAD-4.0.0 1.20032E-06
51 46 L/R 103 rs868419744 0.1521 None gnomAD-2.1.1 7.07E-06
51 46 L/R 103 rs868419744 0.1521 None gnomAD-3.1.2 6.57E-06
51 46 L/R 103 rs868419744 0.1521 None gnomAD-4.0.0 3.09775E-06
51 46 L/V 103 None 0.1521 None gnomAD-4.0.0 6.84068E-07
52 47 P/R 111 rs761625399 0.5442 None gnomAD-2.1.1 7.96E-06
52 47 P/R 111 rs761625399 0.5442 None gnomAD-4.0.0 2.73627E-06
53 48 G/S 115 rs150902810 0.3300 None gnomAD-2.1.1 3.18E-05
53 48 G/S 115 rs150902810 0.3300 None gnomAD-3.1.2 1.31E-05
53 48 G/S 115 rs150902810 0.3300 None 1000 genomes 1.99681E-04
53 48 G/S 115 rs150902810 0.3300 None gnomAD-4.0.0 7.43445E-06
53 48 G/V 115 None 0.3300 None gnomAD-4.0.0 3.42034E-06
54 49 V/L 121 None 0.1610 None gnomAD-4.0.0 4.10442E-06
54 49 V/M 121 rs139517732 0.1610 None gnomAD-2.1.1 4.25E-05
54 49 V/M 121 rs139517732 0.1610 None gnomAD-3.1.2 3.94E-05
54 49 V/M 121 rs139517732 0.1610 None 1000 genomes 5.99042E-04
54 49 V/M 121 rs139517732 0.1610 DCM
Literature None
54 49 V/M 121 rs139517732 0.1610 None gnomAD-4.0.0 3.71722E-05
55 50 Q/H 122 rs1561527314 0.6650 None gnomAD-4.0.0 2.40064E-06
55 50 Q/R 122 None 0.6650 None gnomAD-4.0.0 1.5905E-06
56 51 I/L 123 rs2094107740 0.3005 None gnomAD-3.1.2 6.57E-06
56 51 I/L 123 rs2094107740 0.3005 None gnomAD-4.0.0 6.57497E-06
57 52 S/F 125 rs1274297049 0.3546 None gnomAD-3.1.2 6.57E-06
57 52 S/F 125 rs1274297049 0.3546 None gnomAD-4.0.0 2.56112E-06
58 53 F/L 127 None 0.2430 None gnomAD-4.0.0 1.5905E-06
59 54 S/R 130 rs191057824 0.3670 None gnomAD-2.1.1 5.31E-05
59 54 S/R 130 rs191057824 0.3670 None gnomAD-3.1.2 5.26E-05
59 54 S/R 130 rs191057824 0.3670 None gnomAD-4.0.0 8.86006E-05
60 55 D/E 131 None 0.7091 None gnomAD-4.0.0 2.05221E-06
60 55 D/N 131 rs35683768 0.7091 None gnomAD-2.1.1 1.59E-05
60 55 D/N 131 rs35683768 0.7091 None gnomAD-3.1.2 6.57E-06
60 55 D/N 131 rs35683768 0.7091 None gnomAD-4.0.0 1.17724E-05
60 55 D/V 131 rs754533155 0.7091 None gnomAD-2.1.1 3.98E-06
60 55 D/V 131 rs754533155 0.7091 None gnomAD-4.0.0 1.59052E-06
60 55 D/Y 131 rs35683768 0.7091 None gnomAD-2.1.1 1.46299E-02
60 55 D/Y 131 rs35683768 0.7091 None gnomAD-3.1.2 2.60441E-02
60 55 D/Y 131 rs35683768 0.7091 None 1000 genomes 2.89537E-02
60 55 D/Y 131 rs35683768 0.7091 None gnomAD-4.0.0 1.03547E-02
62 57 R/C 135 rs766108359 0.3101 None gnomAD-2.1.1 1.19E-05
62 57 R/C 135 rs766108359 0.3101 None gnomAD-4.0.0 4.10443E-06
62 57 R/G 135 None 0.3101 None gnomAD-4.0.0 6.84071E-07
62 57 R/H 135 rs758169489 0.3101 None gnomAD-2.1.1 7.78E-05
62 57 R/H 135 rs758169489 0.3101 None gnomAD-3.1.2 3.95E-05
62 57 R/H 135 rs758169489 0.3101 None gnomAD-4.0.0 1.85888E-05
63 58 A/T 136 rs764892312 0.0918 None gnomAD-2.1.1 3.54E-05
63 58 A/T 136 rs764892312 0.0918 None gnomAD-3.1.2 1.32E-05
63 58 A/T 136 rs764892312 0.0918 None gnomAD-4.0.0 2.29267E-05
63 58 A/V 136 rs761823259 0.0918 None gnomAD-2.1.1 3.98E-06
64 59 K/I 137 None 0.4257 None gnomAD-4.0.0 1.59049E-06
65 60 L/V 138 None 0.0833 None gnomAD-4.0.0 1.20034E-06
66 61 T/M 139 rs372755739 0.2025 None gnomAD-2.1.1 4.24E-05
66 61 T/M 139 rs372755739 0.2025 None gnomAD-3.1.2 3.94E-05
66 61 T/M 139 rs372755739 0.2025 None gnomAD-4.0.0 4.58489E-05
67 62 I/N 140 rs952685437 0.1116 None gnomAD-3.1.2 1.32E-05
67 62 I/N 140 rs952685437 0.1116 None gnomAD-4.0.0 1.31546E-05
68 63 P/S 141 rs876658046 0.3781 None gnomAD-3.1.2 6.57E-06
68 63 P/S 141 rs876658046 0.3781 None gnomAD-4.0.0 9.2937E-06
69 64 A/T 143 rs1370693255 0.3893 None gnomAD-2.1.1 1.77E-05
69 64 A/T 143 rs1370693255 0.3893 None gnomAD-3.1.2 1.97E-05
69 64 A/T 143 rs1370693255 0.3893 None gnomAD-4.0.0 1.11525E-05
70 65 V/A 144 None 0.0848 None gnomAD-4.0.0 1.20036E-06
70 65 V/M 144 rs772248060 0.0848 None gnomAD-2.1.1 4.77E-05
70 65 V/M 144 rs772248060 0.0848 None gnomAD-3.1.2 4.6E-05
70 65 V/M 144 rs772248060 0.0848 None gnomAD-4.0.0 2.41631E-05
71 66 T/N 145 None 0.3214 None gnomAD-4.0.0 1.20037E-06
72 67 K/E 146 None 0.3001 None gnomAD-4.0.0 2.05223E-06
72 67 K/T 146 rs1200039660 0.3001 None gnomAD-2.1.1 3.98E-06
73 68 A/G 148 None 0.4476 None gnomAD-4.0.0 6.84057E-07
74 69 N/K 149 rs2094104209 0.1960 None gnomAD-4.0.0 1.20032E-06
74 69 N/S 149 rs774795341 0.1960 None gnomAD-2.1.1 3.98E-06
74 69 N/S 149 rs774795341 0.1960 None gnomAD-4.0.0 8.20886E-06
76 71 G/A 152 rs138750421 0.1449 None gnomAD-2.1.1 9.9E-05
76 71 G/A 152 rs138750421 0.1449 None gnomAD-3.1.2 1.11723E-04
76 71 G/A 152 rs138750421 0.1449 None gnomAD-4.0.0 8.24034E-05
76 71 G/R 152 rs771137064 0.1449 None gnomAD-4.0.0 3.18088E-06
76 71 G/V 152 rs138750421 0.1449 None gnomAD-2.1.1 3.98E-06
76 71 G/V 152 rs138750421 0.1449 None gnomAD-4.0.0 6.84065E-07
77 72 R/Q 153 rs727503709 0.4558 None gnomAD-2.1.1 7.96E-06
77 72 R/Q 153 rs727503709 0.4558 None gnomAD-4.0.0 4.10435E-06
78 73 Y/H 154 None 0.0963 None gnomAD-4.0.0 1.59044E-06
79 74 S/F 155 None 0.1503 None gnomAD-4.0.0 2.73624E-06
79 74 S/T 155 rs746487470 0.1503 None gnomAD-2.1.1 3.98E-06
79 74 S/T 155 rs746487470 0.1503 None gnomAD-4.0.0 1.59045E-06
79 74 S/Y 155 None 0.1503 None gnomAD-4.0.0 6.8406E-07
82 77 A/D 158 None 0.0799 CFTD
Literature None
82 77 A/T 158 rs1575010544 0.0799 None gnomAD-3.1.2 6.57E-06
82 77 A/T 158 rs1575010544 0.0799 None gnomAD-4.0.0 3.09756E-06
84 79 N/D 161 rs1349693054 0.1299 None gnomAD-2.1.1 3.98E-06
84 79 N/D 161 rs1349693054 0.1299 None gnomAD-4.0.0 1.59045E-06
84 79 N/K 161 rs142851233 0.1299 None gnomAD-2.1.1 3.98E-06
84 79 N/K 161 rs142851233 0.1299 None gnomAD-3.1.2 6.57E-06
84 79 N/K 161 rs142851233 0.1299 None gnomAD-4.0.0 6.5722E-06
84 79 N/S 161 rs912344670 0.1299 None gnomAD-3.1.2 6.57E-06
84 79 N/S 161 rs912344670 0.1299 None gnomAD-4.0.0 2.47828E-06
85 80 G/E 162 rs758092470 0.4452 None gnomAD-2.1.1 3.98E-06
85 80 G/E 162 rs758092470 0.4452 None gnomAD-4.0.0 1.59047E-06
86 81 S/F 163 None 0.1127 None gnomAD-4.0.0 1.59046E-06
86 81 S/Y 163 rs749985986 0.1127 None gnomAD-2.1.1 3.98E-06
86 81 S/Y 163 rs749985986 0.1127 None gnomAD-3.1.2 6.57E-06
86 81 S/Y 163 rs749985986 0.1127 None gnomAD-4.0.0 6.57082E-06
87 82 G/R 164 rs756996890 0.1019 None gnomAD-2.1.1 7.95E-06
87 82 G/R 164 rs756996890 0.1019 None gnomAD-4.0.0 1.36819E-06
87 82 G/V 164 None 0.1019 None gnomAD-4.0.0 1.36819E-06
88 83 Q/E 165 None 0.3654 None gnomAD-4.0.0 1.2004E-06
89 84 A/G 166 rs200165636 0.0757 None gnomAD-2.1.1 1.37894E-04
89 84 A/G 166 rs200165636 0.0757 None gnomAD-3.1.2 1.24862E-04
89 84 A/G 166 rs200165636 0.0757 None gnomAD-4.0.0 2.16237E-04
89 84 A/T 166 rs1259283214 0.0757 None gnomAD-4.0.0 1.20039E-06
89 84 A/V 166 rs200165636 0.0757 None gnomAD-2.1.1 7.95E-06
89 84 A/V 166 rs200165636 0.0757 None gnomAD-3.1.2 1.97E-05
89 84 A/V 166 rs200165636 0.0757 None gnomAD-4.0.0 8.05467E-06
90 85 T/A 168 None 0.2123 None gnomAD-4.0.0 1.59048E-06
91 86 S/I 169 rs1367815458 0.0588 None gnomAD-3.1.2 6.57E-06
91 86 S/I 169 rs1367815458 0.0588 None gnomAD-4.0.0 6.57186E-06
91 86 S/N 169 None 0.0588 None gnomAD-4.0.0 1.20038E-06
91 86 S/T 169 None 0.0588 None gnomAD-4.0.0 3.60113E-06
92 87 T/A 171 rs767442718 0.1489 None gnomAD-2.1.1 3.98E-06
92 87 T/A 171 rs767442718 0.1489 None gnomAD-3.1.2 6.57E-06
92 87 T/A 171 rs767442718 0.1489 None gnomAD-4.0.0 2.56113E-06
92 87 T/S 171 rs767442718 0.1489 None gnomAD-2.1.1 3.98E-06
92 87 T/S 171 rs767442718 0.1489 None gnomAD-4.0.0 1.5905E-06
93 88 A/S 172 None 0.0659 None gnomAD-4.0.0 2.05225E-06
93 88 A/T 172 rs1575009860 0.0659 None gnomAD-4.0.0 2.05225E-06
93 88 A/V 172 rs1473207810 0.0659 None gnomAD-2.1.1 3.98E-06
93 88 A/V 172 rs1473207810 0.0659 None gnomAD-4.0.0 1.59052E-06
94 89 E/D 173 None 0.2008 None gnomAD-4.0.0 6.84081E-07
95 90 L/F 174 rs774434865 0.0891 None gnomAD-2.1.1 3.98E-06
95 90 L/F 174 rs774434865 0.0891 None gnomAD-3.1.2 6.57E-06
95 90 L/F 174 rs774434865 0.0891 None gnomAD-4.0.0 2.56115E-06
97 92 V/L 177 None 0.0860 None gnomAD-4.0.0 6.84083E-07
97 92 V/M 177 rs185921345 0.0860 None gnomAD-2.1.1 2.59558E-03
97 92 V/M 177 rs185921345 0.0860 None gnomAD-3.1.2 1.99132E-03
97 92 V/M 177 rs185921345 0.0860 None 1000 genomes 1.19808E-03
97 92 V/M 177 rs185921345 0.0860 None gnomAD-4.0.0 1.17342E-03