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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32998 1 K/E 1 rs747243608 0.7735 None gnomAD-2.1.1 2.95E-05
32998 1 K/E 1 rs747243608 0.7735 None gnomAD-3.1.2 6.57E-05
32998 1 K/E 1 rs747243608 0.7735 None gnomAD-4.0.0 2.35186E-05
33000 3 S/R 3 None 0.2264 None gnomAD-4.0.0 6.88325E-07
33003 6 G/E 6 rs775787996 0.1467 None gnomAD-2.1.1 4.08E-06
33003 6 G/E 6 rs775787996 0.1467 None gnomAD-4.0.0 1.37369E-06
33004 7 E/D 7 None 0.4692 None gnomAD-4.0.0 1.20034E-06
33004 7 E/K 7 rs1430479262 0.4692 None gnomAD-2.1.1 4.08E-06
33004 7 E/K 7 rs1430479262 0.4692 None gnomAD-4.0.0 3.21006E-06
33005 8 L/F 9 rs1428961102 0.2870 None gnomAD-3.1.2 6.57E-06
33005 8 L/F 9 rs1428961102 0.2870 None gnomAD-4.0.0 2.03E-06
33005 8 L/P 9 rs1262695858 0.2870 None gnomAD-2.1.1 4.05E-06
33005 8 L/P 9 rs1262695858 0.2870 None gnomAD-3.1.2 6.57E-06
33005 8 L/P 9 rs1262695858 0.2870 None gnomAD-4.0.0 8.69426E-06
33006 9 E/K 11 rs201931674 0.5238 None gnomAD-2.1.1 1.22E-05
33006 9 E/K 11 rs201931674 0.5238 None gnomAD-3.1.2 6.57E-06
33006 9 E/K 11 rs201931674 0.5238 None gnomAD-4.0.0 1.11785E-05
33007 10 I/S 12 rs745893362 0.3307 None gnomAD-2.1.1 1.62E-05
33007 10 I/S 12 rs745893362 0.3307 None gnomAD-3.1.2 2.63E-05
33007 10 I/S 12 rs745893362 0.3307 None gnomAD-4.0.0 2.62684E-05
33008 11 L/F 13 rs771594208 0.5137 None gnomAD-4.0.0 2.74186E-06
33010 13 I/T 15 None 0.4262 None gnomAD-4.0.0 1.59692E-06
33010 13 I/V 15 rs1419804652 0.4262 None gnomAD-3.1.2 6.57E-06
33010 13 I/V 15 rs1419804652 0.4262 None gnomAD-4.0.0 2.02987E-06
33011 14 S/T 16 rs78814506 0.2238 None gnomAD-2.1.1 8.76109E-04
33011 14 S/T 16 rs78814506 0.2238 None gnomAD-3.1.2 6.11376E-04
33011 14 S/T 16 rs78814506 0.2238 None 1000 genomes 2.39617E-03
33011 14 S/T 16 rs78814506 0.2238 None gnomAD-4.0.0 3.37505E-04
33012 15 K/E 17 rs771511344 0.4460 None gnomAD-2.1.1 8.07E-06
33012 15 K/E 17 rs771511344 0.4460 None gnomAD-4.0.0 3.42439E-06
33013 16 D/G 18 rs749756106 0.3876 None gnomAD-2.1.1 4.04E-06
33013 16 D/H 18 rs1342105550 0.3876 None gnomAD-2.1.1 4.04E-06
33013 16 D/H 18 rs1342105550 0.3876 None gnomAD-4.0.0 1.59437E-06
33013 16 D/N 18 rs1342105550 0.3876 None gnomAD-3.1.2 6.57E-06
33013 16 D/N 18 rs1342105550 0.3876 None gnomAD-4.0.0 6.57203E-06
33014 17 S/T 19 None 0.2366 None gnomAD-4.0.0 2.05314E-06
33017 20 L/Q 22 rs1300155629 0.1366 None gnomAD-2.1.1 4.02E-06
33017 20 L/Q 22 rs1300155629 0.1366 None gnomAD-4.0.0 4.77487E-06
33017 20 L/R 22 None 0.1366 None gnomAD-4.0.0 1.59162E-06
33018 21 Q/E 23 rs1384790834 0.3897 None gnomAD-2.1.1 4.02E-06
33018 21 Q/E 23 rs1384790834 0.3897 None gnomAD-3.1.2 6.57E-06
33018 21 Q/E 23 rs1384790834 0.3897 None gnomAD-4.0.0 6.40668E-06
33018 21 Q/H 23 rs1347129449 0.3897 None gnomAD-2.1.1 4.02E-06
33018 21 Q/H 23 rs1347129449 0.3897 None gnomAD-4.0.0 1.59155E-06
33019 22 W/C 24 None 0.1393 None gnomAD-4.0.0 1.20034E-06
33020 23 E/G 25 rs907499799 0.6395 None gnomAD-4.0.0 4.10551E-06
33020 23 E/K 25 rs751222141 0.6395 None gnomAD-2.1.1 8.04E-06
33020 23 E/K 25 rs751222141 0.6395 None gnomAD-3.1.2 1.97E-05
33020 23 E/K 25 rs751222141 0.6395 None gnomAD-4.0.0 2.60288E-05
33020 23 E/Q 25 None 0.6395 None gnomAD-4.0.0 6.84262E-07
33021 24 K/R 26 rs749757136 0.7254 None gnomAD-2.1.1 4.02E-06
33021 24 K/R 26 rs749757136 0.7254 None gnomAD-3.1.2 6.57E-06
33021 24 K/R 26 rs749757136 0.7254 None gnomAD-4.0.0 2.54085E-05
33022 25 P/L 27 rs987137780 0.2098 None gnomAD-2.1.1 3.18E-05
33022 25 P/L 27 rs987137780 0.2098 None gnomAD-3.1.2 1.97E-05
33022 25 P/L 27 rs987137780 0.2098 None gnomAD-4.0.0 6.19783E-06
33022 25 P/T 27 rs779645034 0.2098 None gnomAD-2.1.1 4.02E-06
33022 25 P/T 27 rs779645034 0.2098 None gnomAD-3.1.2 6.58E-06
33022 25 P/T 27 rs779645034 0.2098 None gnomAD-4.0.0 1.23958E-06
33023 26 E/K 28 rs757929496 1.0350 None gnomAD-2.1.1 4.02E-06
33023 26 E/K 28 rs757929496 1.0350 None gnomAD-4.0.0 1.59144E-06
33024 27 C/G 29 rs200744054 0.4752 None gnomAD-4.0.0 1.20035E-06
33024 27 C/S 29 rs1692930141 0.4752 None gnomAD-3.1.2 6.57E-06
33024 27 C/S 29 rs1692930141 0.4752 None gnomAD-4.0.0 1.85918E-06
33025 28 D/N 30 rs878998371 0.3465 None gnomAD-2.1.1 4.02E-06
33025 28 D/N 30 rs878998371 0.3465 None gnomAD-3.1.2 2.63E-05
33025 28 D/N 30 rs878998371 0.3465 None gnomAD-4.0.0 4.58604E-05
33025 28 D/Y 30 rs878998371 0.3465 None gnomAD-4.0.0 3.42127E-06
33026 29 G/A 31 rs761864497 0.3652 None gnomAD-2.1.1 4.02E-06
33026 29 G/A 31 rs761864497 0.3652 None gnomAD-4.0.0 1.59146E-06
33026 29 G/R 31 rs548099841 0.3652 None gnomAD-2.1.1 4.02E-06
33026 29 G/R 31 rs548099841 0.3652 None gnomAD-3.1.2 6.57E-06
33026 29 G/R 31 rs548099841 0.3652 None 1000 genomes 1.99681E-04
33026 29 G/R 31 rs548099841 0.3652 None gnomAD-4.0.0 6.56694E-06
33026 29 G/S 31 rs548099841 0.3652 None gnomAD-4.0.0 1.59144E-06
33027 30 G/A 32 None 0.5404 None gnomAD-4.0.0 1.5914E-06
33027 30 G/D 32 rs1060500594 0.5404 None gnomAD-4.0.0 6.36562E-06
33027 30 G/S 32 rs753657854 0.5404 None gnomAD-2.1.1 1.61E-05
33027 30 G/S 32 rs753657854 0.5404 None gnomAD-4.0.0 9.54879E-06
33028 31 K/Q 33 None 0.4104 None gnomAD-4.0.0 1.59141E-06
33029 32 E/K 34 rs1431873084 0.8146 None gnomAD-2.1.1 4.02E-06
33029 32 E/K 34 rs1431873084 0.8146 None gnomAD-4.0.0 1.59141E-06
33031 34 L/I 36 None 0.4830 None gnomAD-4.0.0 1.59141E-06
33032 35 G/E 37 rs1247520055 0.1730 None gnomAD-2.1.1 3.19E-05
33032 35 G/E 37 rs1247520055 0.1730 None gnomAD-3.1.2 6.57E-06
33032 35 G/E 37 rs1247520055 0.1730 None gnomAD-4.0.0 6.57358E-06
33033 36 Y/H 38 None 0.1911 None gnomAD-4.0.0 1.20033E-06
33034 37 W/C 39 rs397517778 0.2510 None gnomAD-2.1.1 2.42518E-04
33034 37 W/C 39 rs397517778 0.2510 None gnomAD-3.1.2 7.89E-05
33034 37 W/C 39 rs397517778 0.2510 None 1000 genomes 1.19808E-03
33034 37 W/C 39 rs397517778 0.2510 None gnomAD-4.0.0 6.07289E-05
33034 37 W/R 39 None 0.2510 None gnomAD-4.0.0 1.20034E-06
33034 37 W/S 39 rs786205365 0.2510 None gnomAD-4.0.0 2.7369E-06
33036 39 E/K 41 None 0.1163 None gnomAD-4.0.0 1.59136E-06
33037 40 Y/C 42 rs1692914816 0.2729 None gnomAD-3.1.2 6.57E-06
33037 40 Y/C 42 rs1692914816 0.2729 None gnomAD-4.0.0 3.09847E-06
33037 40 Y/H 42 None 0.2729 None gnomAD-4.0.0 3.18263E-06
33038 41 R/I 43 None 0.1632 None gnomAD-4.0.0 1.20034E-06
33039 42 Q/E 44 rs775875875 0.3209 None gnomAD-2.1.1 1.07E-05
33039 42 Q/E 44 rs775875875 0.3209 None gnomAD-3.1.2 1.97E-05
33039 42 Q/E 44 rs775875875 0.3209 None gnomAD-4.0.0 8.67606E-06
33039 42 Q/H 44 None 0.3209 None gnomAD-4.0.0 6.84217E-07
33040 43 S/A 50 None 0.3364 None gnomAD-4.0.0 6.84212E-07
33040 43 S/P 50 rs772469694 0.3364 None gnomAD-2.1.1 4.02E-06
33040 43 S/P 50 rs772469694 0.3364 None gnomAD-3.1.2 6.58E-06
33040 43 S/P 50 rs772469694 0.3364 None gnomAD-4.0.0 3.71841E-06
33040 43 S/T 50 rs772469694 0.3364 None gnomAD-2.1.1 4.02E-06
33040 43 S/T 50 rs772469694 0.3364 None gnomAD-4.0.0 6.84212E-07
33042 45 D/N 62 None 0.3169 None gnomAD-4.0.0 4.77398E-06
33043 46 S/G 63 None 0.7521 None gnomAD-4.0.0 2.73688E-06
33044 47 A/G 64 None 0.3881 None gnomAD-4.0.0 1.59144E-06
33044 47 A/V 64 rs548242100 0.3881 None gnomAD-2.1.1 1.21E-05
33044 47 A/V 64 rs548242100 0.3881 None gnomAD-3.1.2 6.58E-06
33044 47 A/V 64 rs548242100 0.3881 None 1000 genomes 1.99681E-04
33044 47 A/V 64 rs548242100 0.3881 None gnomAD-4.0.0 3.84377E-06
33045 48 W/G 65 rs770903683 0.2204 None gnomAD-2.1.1 4.02E-06
33045 48 W/G 65 rs770903683 0.2204 None gnomAD-4.0.0 1.59134E-06
33045 48 W/L 65 rs1235163894 0.2204 None gnomAD-4.0.0 1.59134E-06
33045 48 W/R 65 rs770903683 0.2204 None gnomAD-2.1.1 4.02E-06
33046 49 K/N 66 rs778078915 0.3728 None gnomAD-2.1.1 4.02E-06
33046 49 K/N 66 rs778078915 0.3728 None gnomAD-4.0.0 1.59134E-06
33046 49 K/R 66 rs749815808 0.3728 None gnomAD-4.0.0 2.05265E-06
33046 49 K/T 66 None 0.3728 None gnomAD-4.0.0 6.84216E-07
33047 50 K/E 67 None 0.3929 None gnomAD-4.0.0 1.59131E-06
33047 50 K/N 67 None 0.3929 None gnomAD-4.0.0 1.20032E-06
33048 51 S/G 68 rs1330792517 0.2181 None gnomAD-2.1.1 4.02E-06
33048 51 S/G 68 rs1330792517 0.2181 None gnomAD-4.0.0 3.18265E-06
33049 52 N/K 69 None 0.1487 None gnomAD-4.0.0 1.59133E-06
33049 52 N/S 69 rs1692887822 0.1487 None gnomAD-4.0.0 1.20032E-06
33050 53 K/M 70 rs780650379 1.0222 None gnomAD-4.0.0 4.7896E-06
33050 53 K/N 70 None 1.0222 None gnomAD-4.0.0 3.60099E-06
33051 54 E/K 72 rs144319649 0.8128 None gnomAD-2.1.1 2.81E-05
33051 54 E/K 72 rs144319649 0.8128 None gnomAD-3.1.2 1.97E-05
33051 54 E/K 72 rs144319649 0.8128 None 1000 genomes 1.99681E-04
33051 54 E/K 72 rs144319649 0.8128 None gnomAD-4.0.0 1.54916E-05
33052 55 R/C 75 rs758109676 0.5662 None gnomAD-2.1.1 3.21E-05
33052 55 R/C 75 rs758109676 0.5662 None gnomAD-3.1.2 1.32E-05
33052 55 R/C 75 rs758109676 0.5662 None gnomAD-4.0.0 2.72693E-05
33052 55 R/H 75 rs72648276 0.5662 None gnomAD-2.1.1 4.64E-05
33052 55 R/H 75 rs72648276 0.5662 None gnomAD-3.1.2 1.97E-05
33052 55 R/H 75 rs72648276 0.5662 None gnomAD-4.0.0 1.92113E-05
33052 55 R/P 75 rs72648276 0.5662 None gnomAD-2.1.1 4.02E-06
33052 55 R/P 75 rs72648276 0.5662 None gnomAD-3.1.2 6.57E-06
33052 55 R/P 75 rs72648276 0.5662 None gnomAD-4.0.0 3.0986E-06
33052 55 R/S 75 None 0.5662 None gnomAD-4.0.0 6.84235E-07
33053 56 I/N 77 None 0.1977 None gnomAD-4.0.0 6.84222E-07
33053 56 I/T 77 rs1692880660 0.1977 None gnomAD-3.1.2 6.58E-06
33053 56 I/T 77 rs1692880660 0.1977 None gnomAD-4.0.0 1.23948E-06
33054 57 K/Q 83 rs1553507202 0.9098 None gnomAD-3.1.2 6.57E-06
33054 57 K/Q 83 rs1553507202 0.9098 None gnomAD-4.0.0 6.5722E-06
33056 59 K/N 89 rs1692876127 0.4217 None gnomAD-3.1.2 6.57E-06
33056 59 K/N 89 rs1692876127 0.4217 None gnomAD-4.0.0 6.57341E-06
33057 60 Q/H 90 None 0.5114 None gnomAD-4.0.0 1.36844E-06
33057 60 Q/K 90 rs756651625 0.5114 None gnomAD-2.1.1 4.02E-06
33057 60 Q/K 90 rs756651625 0.5114 None gnomAD-4.0.0 7.95661E-06
33057 60 Q/P 90 rs1177530238 0.5114 None gnomAD-2.1.1 4.02E-06
33057 60 Q/P 90 rs1177530238 0.5114 None gnomAD-4.0.0 3.18261E-06
33059 62 T/I 92 rs1038769207 0.3782 None gnomAD-2.1.1 8.03E-06
33059 62 T/I 92 rs1038769207 0.3782 None gnomAD-3.1.2 6.58E-06
33059 62 T/I 92 rs1038769207 0.3782 None gnomAD-4.0.0 3.84376E-06
33060 63 I/K 93 None 0.1089 None gnomAD-4.0.0 6.84226E-07
33060 63 I/L 93 rs142108986 0.1089 None gnomAD-2.1.1 1.78E-05
33060 63 I/L 93 rs142108986 0.1089 None gnomAD-3.1.2 5.26E-05
33060 63 I/L 93 rs142108986 0.1089 None 1000 genomes 1.99681E-04
33060 63 I/L 93 rs142108986 0.1089 None gnomAD-4.0.0 1.17735E-05
33060 63 I/R 93 rs763888823 0.1089 None gnomAD-3.1.2 6.58E-06
33060 63 I/R 93 rs763888823 0.1089 None gnomAD-4.0.0 6.57739E-06
33060 63 I/T 93 rs763888823 0.1089 None gnomAD-4.0.0 2.7369E-06
33060 63 I/V 93 None 0.1089 None gnomAD-4.0.0 6.84219E-07
33061 64 G/E 94 rs760665075 0.4167 None gnomAD-4.0.0 2.05264E-06
33061 64 G/R 94 rs2154139241 0.4167 None gnomAD-4.0.0 1.59127E-06
33061 64 G/V 94 rs760665075 0.4167 None gnomAD-3.1.2 6.57E-06
33061 64 G/V 94 rs760665075 0.4167 None gnomAD-4.0.0 1.23939E-06
33062 65 G/A 96 None 0.5784 None gnomAD-4.0.0 9.60271E-06
33069 72 Y/C 104 rs377399232 0.0972 None gnomAD-2.1.1 4.02E-06
33069 72 Y/C 104 rs377399232 0.0972 None gnomAD-3.1.2 6.57E-06
33069 72 Y/C 104 rs377399232 0.0972 None gnomAD-4.0.0 6.57065E-06
33069 72 Y/N 104 rs752578821 0.0972 None gnomAD-2.1.1 4.02E-06
33069 72 Y/N 104 rs752578821 0.0972 None gnomAD-4.0.0 3.18296E-06
33070 73 E/Q 105 rs1263382518 0.2144 None gnomAD-2.1.1 4.02E-06
33072 75 R/G 107 rs1461001507 0.1113 None gnomAD-3.1.2 6.57E-06
33072 75 R/G 107 rs1461001507 0.1113 None gnomAD-4.0.0 6.5703E-06
33073 76 V/A 108 None 0.0967 None gnomAD-4.0.0 3.18287E-06
33074 77 F/L 109 rs1692851858 0.1775 None gnomAD-4.0.0 1.59164E-06
33074 77 F/S 109 rs1328730203 0.1775 None gnomAD-3.1.2 1.31E-05
33074 77 F/S 109 rs1328730203 0.1775 None gnomAD-4.0.0 2.47887E-06
33075 78 A/V 110 rs373447560 0.1309 None gnomAD-2.1.1 1.21E-05
33075 78 A/V 110 rs373447560 0.1309 None gnomAD-3.1.2 1.31E-05
33075 78 A/V 110 rs373447560 0.1309 None gnomAD-4.0.0 8.67659E-06
33076 79 E/D 111 rs1304767671 0.2744 None gnomAD-2.1.1 3.18E-05
33076 79 E/D 111 rs1304767671 0.2744 None gnomAD-3.1.2 1.31E-05
33076 79 E/D 111 rs1304767671 0.2744 None gnomAD-4.0.0 9.13418E-06
33076 79 E/K 111 rs1281110554 0.2744 None gnomAD-2.1.1 4.02E-06
33076 79 E/K 111 rs1281110554 0.2744 None gnomAD-3.1.2 6.57E-06
33076 79 E/K 111 rs1281110554 0.2744 None gnomAD-4.0.0 2.56247E-06
33078 81 E/K 113 rs771047688 0.5759 None gnomAD-2.1.1 4.02E-06
33078 81 E/K 113 rs771047688 0.5759 None gnomAD-4.0.0 1.59165E-06
33079 82 T/A 114 rs1442558441 0.6036 None gnomAD-3.1.2 6.57E-06
33079 82 T/A 114 rs1442558441 0.6036 None gnomAD-4.0.0 2.5627E-06
33080 83 G/E 115 rs762905152 0.1815 None gnomAD-2.1.1 7.65E-05
33080 83 G/E 115 rs762905152 0.1815 None gnomAD-3.1.2 1.31E-05
33080 83 G/E 115 rs762905152 0.1815 None gnomAD-4.0.0 4.33856E-05
33081 84 L/R 116 rs773795503 0.4728 None gnomAD-2.1.1 4.03E-06
33081 84 L/R 116 rs773795503 0.4728 None gnomAD-4.0.0 1.5918E-06
33084 87 P/L 120 None 0.2253 None gnomAD-4.0.0 1.59212E-06
33085 88 R/C 121 rs748626206 0.1876 None gnomAD-2.1.1 1.21E-05
33085 88 R/C 121 rs748626206 0.1876 None gnomAD-4.0.0 1.16347E-05
33085 88 R/H 121 rs777035261 0.1876 None gnomAD-2.1.1 4.3E-05
33085 88 R/H 121 rs777035261 0.1876 None gnomAD-3.1.2 2.63E-05
33085 88 R/H 121 rs777035261 0.1876 None gnomAD-4.0.0 7.50092E-05
33086 89 R/S 122 None 0.4432 None gnomAD-4.0.0 1.20032E-06
33088 91 A/G 124 rs745535102 0.8162 None gnomAD-2.1.1 4.04E-06
33088 91 A/G 124 rs745535102 0.8162 None gnomAD-3.1.2 6.57E-06
33088 91 A/G 124 rs745535102 0.8162 None gnomAD-4.0.0 5.58015E-06
33089 92 M/I 125 None 0.8139 None gnomAD-4.0.0 1.59438E-06
33089 92 M/T 125 rs1445903275 0.8139 None gnomAD-2.1.1 4.05E-06
33089 92 M/T 125 rs1445903275 0.8139 None gnomAD-4.0.0 1.59358E-06
33089 92 M/V 125 rs1181148072 0.8139 None gnomAD-2.1.1 4.04E-06
33089 92 M/V 125 rs1181148072 0.8139 None gnomAD-4.0.0 4.78004E-06
33090 93 S/C 126 None 0.3906 None gnomAD-4.0.0 6.84784E-07
33091 94 I/L 127 rs879450752 0.2349 None gnomAD-3.1.2 6.57E-06
33091 94 I/L 127 rs879450752 0.2349 None gnomAD-4.0.0 4.96205E-06
33091 94 I/M 127 rs746305727 0.2349 None gnomAD-4.0.0 1.23297E-05
33091 94 I/R 127 None 0.2349 None gnomAD-4.0.0 1.59537E-06
33091 94 I/V 127 rs879450752 0.2349 None gnomAD-4.0.0 6.84925E-07
33092 95 K/N 129 rs778385575 0.3857 None gnomAD-2.1.1 4.08E-06
33092 95 K/N 129 rs778385575 0.3857 None gnomAD-4.0.0 1.59867E-06
33092 95 K/Q 129 None 0.3857 None gnomAD-4.0.0 1.20032E-06
33093 96 T/A 130 rs748796464 0.1365 None gnomAD-2.1.1 1.22E-05
33093 96 T/A 130 rs748796464 0.1365 None gnomAD-4.0.0 4.79987E-06
33093 96 T/S 130 rs748796464 0.1365 None gnomAD-2.1.1 4.09E-06
33093 96 T/S 130 rs748796464 0.1365 None gnomAD-4.0.0 3.42848E-06