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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26972 1 K/R 1 rs1705272007 0.7309 None gnomAD-3.1.2 6.57E-06
26972 1 K/R 1 rs1705272007 0.7309 None gnomAD-4.0.0 6.57358E-06
26973 2 P/A 2 rs148598047 0.1118 None gnomAD-2.1.1 1.07E-05
26973 2 P/A 2 rs148598047 0.1118 None gnomAD-3.1.2 5.26E-05
26973 2 P/A 2 rs148598047 0.1118 None 1000 genomes 1.99681E-04
26973 2 P/A 2 rs148598047 0.1118 None gnomAD-4.0.0 6.81734E-06
26974 3 G/R 3 rs1217303445 0.2255 None gnomAD-2.1.1 3.19E-05
26974 3 G/R 3 rs1217303445 0.2255 None gnomAD-3.1.2 6.57E-06
26974 3 G/R 3 rs1217303445 0.2255 None gnomAD-4.0.0 2.03E-06
26975 4 P/R 4 None 0.4034 None gnomAD-4.0.0 1.59177E-06
26975 4 P/S 4 None 0.4034 None gnomAD-4.0.0 6.84295E-07
26975 4 P/T 4 rs1283579585 0.4034 None gnomAD-2.1.1 4.03E-06
26975 4 P/T 4 rs1283579585 0.4034 None gnomAD-3.1.2 6.57E-06
26975 4 P/T 4 rs1283579585 0.4034 None gnomAD-4.0.0 1.85937E-06
26976 5 P/L 5 rs759657244 0.1037 None gnomAD-2.1.1 1.43E-05
26976 5 P/L 5 rs759657244 0.1037 None gnomAD-3.1.2 6.58E-06
26976 5 P/L 5 rs759657244 0.1037 None gnomAD-4.0.0 5.12608E-06
26976 5 P/S 5 None 0.1037 None gnomAD-4.0.0 1.20032E-06
26977 6 V/A 6 rs774769114 0.3985 None gnomAD-2.1.1 7.15E-06
26977 6 V/A 6 rs774769114 0.3985 None gnomAD-3.1.2 1.97E-05
26977 6 V/A 6 rs774769114 0.3985 None gnomAD-4.0.0 3.71874E-06
26977 6 V/F 6 None 0.3985 None gnomAD-4.0.0 1.20032E-06
26977 6 V/G 6 rs774769114 0.3985 None gnomAD-3.1.2 1.32E-05
26977 6 V/G 6 rs774769114 0.3985 None gnomAD-4.0.0 2.47916E-06
26977 6 V/I 6 None 0.3985 None gnomAD-4.0.0 1.20032E-06
26978 7 G/A 7 None 0.4764 None gnomAD-4.0.0 1.59182E-06
26979 8 P/L 8 rs771437632 0.7643 None gnomAD-2.1.1 4.03E-06
26979 8 P/L 8 rs771437632 0.7643 None gnomAD-3.1.2 6.58E-06
26979 8 P/L 8 rs771437632 0.7643 None gnomAD-4.0.0 9.91707E-06
26980 9 V/A 9 None 0.1750 None gnomAD-4.0.0 2.40064E-06
26980 9 V/F 9 None 0.1750 None gnomAD-4.0.0 6.84313E-07
26980 9 V/I 9 None 0.1750 None gnomAD-4.0.0 2.05294E-06
26980 9 V/L 9 None 0.1750 None gnomAD-4.0.0 6.84313E-07
26981 10 R/L 11 None 0.5998 None gnomAD-4.0.0 1.36867E-06
26981 10 R/Q 11 rs768308408 0.5998 None gnomAD-2.1.1 3.58E-05
26981 10 R/Q 11 rs768308408 0.5998 None gnomAD-3.1.2 4.6E-05
26981 10 R/Q 11 rs768308408 0.5998 None gnomAD-4.0.0 9.48326E-05
26981 10 R/W 11 rs779878975 0.5998 None gnomAD-2.1.1 2.82E-05
26981 10 R/W 11 rs779878975 0.5998 None gnomAD-3.1.2 3.29E-05
26981 10 R/W 11 rs779878975 0.5998 None gnomAD-4.0.0 3.28501E-05
26982 11 F/I 12 rs200406978 0.3276 None gnomAD-3.1.2 6.58E-06
26982 11 F/I 12 rs200406978 0.3276 None gnomAD-4.0.0 1.23966E-06
26982 11 F/L 12 rs200406978 0.3276 None gnomAD-2.1.1 5.40289E-04
26982 11 F/L 12 rs200406978 0.3276 None gnomAD-3.1.2 1.71008E-04
26982 11 F/L 12 rs200406978 0.3276 None 1000 genomes 1.19808E-03
26982 11 F/L 12 rs200406978 0.3276 None gnomAD-4.0.0 1.59184E-06
26983 12 D/E 13 rs775115560 0.4762 None gnomAD-2.1.1 3.19E-05
26983 12 D/E 13 rs775115560 0.4762 None gnomAD-3.1.2 6.57E-06
26983 12 D/E 13 rs775115560 0.4762 None gnomAD-4.0.0 6.57402E-06
26983 12 D/N 13 None 0.4762 None gnomAD-4.0.0 1.59197E-06
26985 14 V/F 15 None 0.2737 None gnomAD-4.0.0 1.20032E-06
26986 15 S/N 16 rs1389359522 0.0766 None gnomAD-2.1.1 4.03E-06
26986 15 S/N 16 rs1389359522 0.0766 None gnomAD-4.0.0 1.16338E-05
26988 17 D/E 18 rs755899399 0.3423 None gnomAD-2.1.1 7.16E-06
26988 17 D/E 18 rs755899399 0.3423 None gnomAD-3.1.2 1.31E-05
26988 17 D/E 18 rs755899399 0.3423 None gnomAD-4.0.0 6.84363E-07
26989 18 F/I 19 rs1348393968 0.1361 None gnomAD-4.0.0 6.00161E-06
26989 18 F/S 19 rs1351288093 0.1361 None gnomAD-3.1.2 6.57E-06
26989 18 F/S 19 rs1351288093 0.1361 None gnomAD-4.0.0 2.56344E-06
26991 20 V/I 21 rs1362572333 0.1405 None gnomAD-2.1.1 3.19E-05
26992 21 I/M 22 rs754446799 0.0839 None gnomAD-3.1.2 6.57E-06
26992 21 I/M 22 rs754446799 0.0839 None gnomAD-4.0.0 6.5722E-06
26992 21 I/T 22 rs771535559 0.0839 None gnomAD-2.1.1 4.03E-06
26992 21 I/T 22 rs771535559 0.0839 None gnomAD-4.0.0 2.05323E-06
26993 22 S/P 23 None 0.1646 None gnomAD-4.0.0 1.20032E-06
26995 24 E/K 25 rs397517719 0.4406 None gnomAD-2.1.1 2.25553E-04
26995 24 E/K 25 rs397517719 0.4406 None gnomAD-3.1.2 1.31513E-04
26995 24 E/K 25 rs397517719 0.4406 None 1000 genomes 1.99681E-04
26995 24 E/K 25 rs397517719 0.4406 None gnomAD-4.0.0 1.98983E-04
26996 25 P/H 26 None 0.4310 None gnomAD-4.0.0 1.59231E-06
26996 25 P/S 26 rs561588883 0.4310 None gnomAD-2.1.1 4.03E-06
26996 25 P/S 26 rs561588883 0.4310 None gnomAD-4.0.0 3.18461E-06
26996 25 P/T 26 rs561588883 0.4310 None gnomAD-2.1.1 4.03E-06
26996 25 P/T 26 rs561588883 0.4310 None gnomAD-3.1.2 6.57E-06
26996 25 P/T 26 rs561588883 0.4310 None 1000 genomes 1.99681E-04
26996 25 P/T 26 rs561588883 0.4310 None gnomAD-4.0.0 6.56866E-06
26998 27 A/T 28 rs373572123 0.7905 None gnomAD-2.1.1 1.61E-05
26998 27 A/T 28 rs373572123 0.7905 None gnomAD-3.1.2 1.31E-05
26998 27 A/T 28 rs373572123 0.7905 None gnomAD-4.0.0 4.9589E-06
26999 28 Y/C 29 rs1252117916 0.6651 None gnomAD-3.1.2 6.57E-06
26999 28 Y/C 29 rs1252117916 0.6651 None gnomAD-4.0.0 4.33876E-06
27000 29 T/I 30 None 0.3011 None gnomAD-4.0.0 1.20032E-06
27001 30 G/A 31 rs767825951 0.2082 None gnomAD-2.1.1 4.03E-06
27001 30 G/A 31 rs767825951 0.2082 None gnomAD-3.1.2 6.57E-06
27001 30 G/A 31 rs767825951 0.2082 None gnomAD-4.0.0 2.56335E-06
27001 30 G/D 31 rs767825951 0.2082 None gnomAD-2.1.1 4.03E-06
27001 30 G/D 31 rs767825951 0.2082 None gnomAD-4.0.0 1.59205E-06
27002 31 G/S 32 rs755052544 0.6601 None gnomAD-2.1.1 3.63E-05
27002 31 G/S 32 rs755052544 0.6601 None gnomAD-4.0.0 8.89641E-06
27003 32 C/Y 33 rs1359547274 0.2315 None gnomAD-2.1.1 4.03E-06
27003 32 C/Y 33 rs1359547274 0.2315 None gnomAD-4.0.0 1.59216E-06
27004 33 Q/H 34 None 0.9385 None gnomAD-4.0.0 1.20032E-06
27005 34 I/K 35 rs1430969967 0.2055 None gnomAD-2.1.1 4.03E-06
27005 34 I/T 35 rs1430969967 0.2055 None gnomAD-2.1.1 4.03E-06
27005 34 I/T 35 rs1430969967 0.2055 None gnomAD-4.0.0 2.05299E-06
27006 35 S/I 36 rs886055241 0.4134 None gnomAD-2.1.1 4.03E-06
27006 35 S/I 36 rs886055241 0.4134 None gnomAD-4.0.0 1.59192E-06
27006 35 S/R 36 None 0.4134 None gnomAD-4.0.0 3.18385E-06
27008 37 Y/D 38 rs72648211 0.1181 None gnomAD-2.1.1 4.03E-06
27008 37 Y/D 38 rs72648211 0.1181 None gnomAD-4.0.0 3.42162E-06
27008 37 Y/H 38 None 0.1181 None gnomAD-4.0.0 6.84323E-07
27009 38 I/F 39 None 0.1447 None gnomAD-4.0.0 1.5918E-06
27009 38 I/S 39 None 0.1447 None gnomAD-4.0.0 1.5918E-06
27009 38 I/T 39 rs1408591294 0.1447 None gnomAD-2.1.1 4.03E-06
27009 38 I/T 39 rs1408591294 0.1447 None gnomAD-4.0.0 1.5918E-06
27009 38 I/V 39 rs763457498 0.1447 None gnomAD-2.1.1 8.05E-06
27009 38 I/V 39 rs763457498 0.1447 None gnomAD-3.1.2 6.57E-06
27009 38 I/V 39 rs763457498 0.1447 None gnomAD-4.0.0 5.12593E-06
27010 39 V/A 40 rs369235214 0.0937 None gnomAD-2.1.1 2.42E-05
27010 39 V/A 40 rs369235214 0.0937 None gnomAD-3.1.2 2.63E-05
27010 39 V/A 40 rs369235214 0.0937 None gnomAD-4.0.0 2.10731E-05
27011 40 E/D 41 rs765653425 0.1414 None gnomAD-2.1.1 8.05E-06
27011 40 E/D 41 rs765653425 0.1414 None gnomAD-3.1.2 1.31E-05
27011 40 E/D 41 rs765653425 0.1414 None gnomAD-4.0.0 6.84294E-07
27012 41 K/N 42 rs550999055 0.1946 None gnomAD-2.1.1 1.89191E-04
27012 41 K/N 42 rs550999055 0.1946 None gnomAD-3.1.2 5.92E-05
27012 41 K/N 42 rs550999055 0.1946 None 1000 genomes 1.19808E-03
27012 41 K/N 42 rs550999055 0.1946 None gnomAD-4.0.0 9.60622E-05
27013 42 R/L 43 rs376374751 0.2258 None gnomAD-2.1.1 4.03E-06
27013 42 R/L 43 rs376374751 0.2258 None gnomAD-4.0.0 6.84288E-07
27013 42 R/Q 43 rs376374751 0.2258 None gnomAD-2.1.1 5.72E-05
27013 42 R/Q 43 rs376374751 0.2258 None gnomAD-3.1.2 5.26E-05
27013 42 R/Q 43 rs376374751 0.2258 None gnomAD-4.0.0 4.52448E-05
27014 43 D/E 44 rs1468937743 0.2411 None gnomAD-4.0.0 6.84284E-07
27014 43 D/N 44 rs1195586703 0.2411 None gnomAD-2.1.1 4.02E-06
27014 43 D/N 44 rs1195586703 0.2411 None gnomAD-4.0.0 1.59167E-06
27014 43 D/V 44 rs954420443 0.2411 None gnomAD-4.0.0 1.59169E-06
27016 45 T/I 54 None 0.6684 None gnomAD-4.0.0 1.20032E-06
27016 45 T/N 54 rs745404390 0.6684 None gnomAD-2.1.1 4.02E-06
27017 46 T/A 60 rs993539436 0.3029 None gnomAD-2.1.1 4.02E-06
27017 46 T/A 60 rs993539436 0.3029 None gnomAD-4.0.0 1.59167E-06
27018 47 T/S 63 None 0.9283 None gnomAD-4.0.0 1.59162E-06
27019 48 T/S 64 rs531674020 0.5047 None gnomAD-2.1.1 3.19E-05
27019 48 T/S 64 rs531674020 0.5047 None gnomAD-3.1.2 2.63E-05
27019 48 T/S 64 rs531674020 0.5047 None gnomAD-4.0.0 1.59159E-06
27021 50 H/Y 66 None 0.5582 None gnomAD-4.0.0 3.60097E-06
27022 51 M/I 67 None 0.3238 None gnomAD-4.0.0 1.59161E-06
27022 51 M/L 67 rs1300719921 0.3238 None gnomAD-2.1.1 4.02E-06
27022 51 M/L 67 rs1300719921 0.3238 None gnomAD-4.0.0 6.84268E-07
27022 51 M/T 67 None 0.3238 None gnomAD-4.0.0 2.05279E-06
27022 51 M/V 67 rs1300719921 0.3238 None gnomAD-3.1.2 6.57E-06
27022 51 M/V 67 rs1300719921 0.3238 None gnomAD-4.0.0 4.33822E-06
27023 52 V/I 68 None 0.2772 None gnomAD-4.0.0 4.80129E-06
27023 52 V/L 68 rs2154163928 0.2772 None gnomAD-3.1.2 6.57E-06
27023 52 V/L 68 rs2154163928 0.2772 None gnomAD-4.0.0 6.56978E-06
27025 54 A/P 70 None 0.3145 None gnomAD-4.0.0 1.59158E-06
27026 55 T/I 75 rs1371024440 0.7145 None gnomAD-4.0.0 1.59159E-06
27027 56 V/A 77 rs749171660 0.1393 None gnomAD-2.1.1 8.04E-06
27027 56 V/A 77 rs749171660 0.1393 None gnomAD-4.0.0 4.10565E-06
27028 57 A/P 83 rs1356707489 0.6712 None gnomAD-2.1.1 4.02E-06
27028 57 A/P 83 rs1356707489 0.6712 None gnomAD-4.0.0 6.36639E-06
27028 57 A/V 83 None 0.6712 None gnomAD-4.0.0 1.59164E-06
27030 59 T/A 89 None 0.1817 None gnomAD-4.0.0 1.59164E-06
27030 59 T/I 89 rs1705177542 0.1817 None gnomAD-3.1.2 6.57E-06
27030 59 T/I 89 rs1705177542 0.1817 None gnomAD-4.0.0 1.85932E-06
27030 59 T/K 89 None 0.1817 None gnomAD-4.0.0 1.36856E-06
27030 59 T/R 89 rs1705177542 0.1817 None gnomAD-3.1.2 6.57E-06
27030 59 T/R 89 rs1705177542 0.1817 None gnomAD-4.0.0 6.57436E-06
27031 60 T/A 90 None 0.3756 None gnomAD-4.0.0 1.36854E-06
27031 60 T/I 90 rs777849777 0.3756 None gnomAD-2.1.1 4.02E-06
27031 60 T/I 90 rs777849777 0.3756 None gnomAD-4.0.0 5.47434E-06
27032 61 I/V 91 rs369908251 0.1876 None gnomAD-2.1.1 8.04E-06
27032 61 I/V 91 rs369908251 0.1876 None gnomAD-3.1.2 1.31E-05
27032 61 I/V 91 rs369908251 0.1876 None gnomAD-4.0.0 2.66493E-05
27034 63 I/M 93 None 0.1114 None gnomAD-4.0.0 1.592E-06
27035 64 T/S 94 rs1705169163 0.4153 None gnomAD-3.1.2 6.58E-06
27035 64 T/S 94 rs1705169163 0.4153 None gnomAD-4.0.0 6.57575E-06
27036 65 K/E 96 rs545554093 0.9011 None gnomAD-2.1.1 4.03E-06
27036 65 K/E 96 rs545554093 0.9011 None gnomAD-3.1.2 6.57E-06
27036 65 K/E 96 rs545554093 0.9011 None 1000 genomes 1.99681E-04
27036 65 K/E 96 rs545554093 0.9011 None gnomAD-4.0.0 2.0297E-06
27037 66 L/P 97 None 0.1169 None gnomAD-4.0.0 1.5924E-06
27038 67 K/Q 98 rs1705165045 0.7184 None gnomAD-4.0.0 2.05323E-06
27038 67 K/R 98 None 0.7184 None gnomAD-4.0.0 1.20032E-06
27041 70 T/M 102 rs755178087 0.1740 None gnomAD-2.1.1 1.79E-05
27041 70 T/M 102 rs755178087 0.1740 None gnomAD-3.1.2 6.58E-06
27041 70 T/M 102 rs755178087 0.1740 None gnomAD-4.0.0 6.19947E-06
27042 71 E/D 103 rs766412271 0.2763 None gnomAD-2.1.1 4.03E-06
27042 71 E/D 103 rs766412271 0.2763 None gnomAD-4.0.0 1.59287E-06
27042 71 E/V 103 None 0.2763 None gnomAD-4.0.0 1.59263E-06
27044 73 Q/H 105 None 0.1639 None gnomAD-4.0.0 1.20032E-06
27044 73 Q/L 105 None 0.1639 None gnomAD-4.0.0 1.59341E-06
27044 73 Q/R 105 None 0.1639 None gnomAD-4.0.0 6.37365E-06
27045 74 F/L 106 rs190041566 0.1151 None gnomAD-2.1.1 3.64E-05
27045 74 F/L 106 rs190041566 0.1151 None gnomAD-3.1.2 1.31E-05
27045 74 F/L 106 rs190041566 0.1151 None 1000 genomes 1.99681E-04
27045 74 F/L 106 rs190041566 0.1151 None gnomAD-4.0.0 1.55059E-05
27046 75 R/K 107 None 0.1323 None gnomAD-4.0.0 6.84885E-07
27046 75 R/T 107 rs1705155978 0.1323 None gnomAD-4.0.0 6.84885E-07
27048 77 F/L 109 None 0.1196 None gnomAD-4.0.0 1.20032E-06
27048 77 F/S 109 None 0.1196 None gnomAD-4.0.0 1.59558E-06
27049 78 A/P 110 rs750982234 0.0787 None gnomAD-2.1.1 4.05E-06
27050 79 E/G 111 rs938840239 0.2420 None gnomAD-2.1.1 4.05E-06
27050 79 E/G 111 rs938840239 0.2420 None gnomAD-3.1.2 6.57E-06
27050 79 E/G 111 rs938840239 0.2420 None gnomAD-4.0.0 2.56751E-06
27051 80 N/K 112 None 0.1097 None gnomAD-4.0.0 6.8512E-07
27051 80 N/S 112 rs1235989659 0.1097 None gnomAD-3.1.2 6.57E-06
27051 80 N/S 112 rs1235989659 0.1097 None gnomAD-4.0.0 1.86095E-06
27052 81 R/S 113 None 0.4924 None gnomAD-4.0.0 6.85158E-07
27052 81 R/T 113 rs762209719 0.4924 None gnomAD-2.1.1 1.22E-05
27052 81 R/T 113 rs762209719 0.4924 None gnomAD-3.1.2 1.97E-05
27052 81 R/T 113 rs762209719 0.4924 None gnomAD-4.0.0 1.67018E-05
27053 82 Y/N 114 rs776943572 0.5641 None gnomAD-2.1.1 8.98E-05
27053 82 Y/N 114 rs776943572 0.5641 None gnomAD-3.1.2 1.31525E-04
27053 82 Y/N 114 rs776943572 0.5641 None gnomAD-4.0.0 4.46737E-05
27054 83 G/E 115 None 0.2125 None gnomAD-4.0.0 1.59697E-06
27055 84 K/E 117 None 0.4464 None gnomAD-4.0.0 2.40064E-06
27055 84 K/N 117 None 0.4464 None gnomAD-4.0.0 1.59565E-06
27056 85 S/N 118 None 0.0976 None gnomAD-4.0.0 6.85037E-07
27056 85 S/R 118 None 0.0976 None gnomAD-4.0.0 6.84945E-07
27057 86 A/D 119 rs1705146813 0.3579 None gnomAD-3.1.2 1.31E-05
27057 86 A/D 119 rs1705146813 0.3579 None gnomAD-4.0.0 1.31494E-05
27057 86 A/T 119 None 0.3579 None gnomAD-4.0.0 1.20032E-06
27060 89 D/Y 122 rs372875889 0.4151 None gnomAD-2.1.1 1.08E-05
27060 89 D/Y 122 rs372875889 0.4151 None gnomAD-3.1.2 1.31E-05
27060 89 D/Y 122 rs372875889 0.4151 None gnomAD-4.0.0 3.10168E-06
27061 90 S/P 123 rs773739899 0.1434 None gnomAD-2.1.1 8.09E-06
27061 90 S/P 123 rs773739899 0.1434 None gnomAD-4.0.0 3.19036E-06
27062 91 K/M 124 None 0.8979 None gnomAD-4.0.0 6.8486E-07
27062 91 K/R 124 rs1705141926 0.8979 None gnomAD-3.1.2 6.57E-06
27062 91 K/R 124 rs1705141926 0.8979 None gnomAD-4.0.0 6.57212E-06
27062 91 K/T 124 None 0.8979 None gnomAD-4.0.0 2.05458E-06
27063 92 A/E 126 rs1705140581 0.3069 None gnomAD-4.0.0 1.20032E-06
27064 93 V/D 127 rs1705136548 0.1660 None gnomAD-4.0.0 1.20032E-06
27064 93 V/I 127 rs1299204820 0.1660 None gnomAD-2.1.1 4.05E-06
27064 93 V/I 127 rs1299204820 0.1660 None gnomAD-4.0.0 1.20032E-06
27065 94 I/F 128 rs1374004935 0.4602 None gnomAD-2.1.1 4.04E-06
27065 94 I/V 128 None 0.4602 None gnomAD-4.0.0 1.20033E-06
27066 95 V/A 130 rs1705132608 0.0762 None gnomAD-4.0.0 1.20033E-06
27066 95 V/I 130 None 0.0762 None gnomAD-4.0.0 2.73954E-06
27067 96 Q/K 131 rs1315059139 0.4500 None gnomAD-2.1.1 1.21E-05
27067 96 Q/K 131 rs1315059139 0.4500 None gnomAD-3.1.2 6.57E-06
27067 96 Q/K 131 rs1315059139 0.4500 None gnomAD-4.0.0 7.70009E-06
27068 97 Y/H 132 None 0.3464 None gnomAD-4.0.0 1.59509E-06