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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31019 4 P/L 4 rs772541126 0.3624 None gnomAD-4.0.0 1.5911E-06
31019 4 P/Q 4 rs772541126 0.3624 None gnomAD-2.1.1 8.05E-06
31019 4 P/Q 4 rs772541126 0.3624 None gnomAD-4.0.0 3.1822E-06
31019 4 P/S 4 None 0.3624 None gnomAD-4.0.0 1.59112E-06
31020 5 P/L 5 rs1312330710 0.1166 None gnomAD-2.1.1 4.02E-06
31020 5 P/L 5 rs1312330710 0.1166 None gnomAD-4.0.0 3.18221E-06
31020 5 P/R 5 rs1312330710 0.1166 None gnomAD-2.1.1 4.02E-06
31020 5 P/R 5 rs1312330710 0.1166 None gnomAD-4.0.0 1.59111E-06
31020 5 P/S 5 rs944645264 0.1166 None gnomAD-2.1.1 8.05E-06
31020 5 P/S 5 rs944645264 0.1166 None gnomAD-4.0.0 1.09469E-05
31020 5 P/T 5 rs944645264 0.1166 None gnomAD-2.1.1 4.02E-06
31020 5 P/T 5 rs944645264 0.1166 None gnomAD-4.0.0 3.4209E-06
31021 6 G/C 6 None 0.1876 None gnomAD-4.0.0 3.18222E-06
31021 6 G/D 6 rs1283096478 0.1876 None gnomAD-2.1.1 4.02E-06
31021 6 G/D 6 rs1283096478 0.1876 None gnomAD-4.0.0 1.59111E-06
31023 8 I/F 9 None 0.1229 None gnomAD-4.0.0 1.20032E-06
31024 9 T/A 11 rs887995092 0.4447 None gnomAD-4.0.0 5.47347E-06
31024 9 T/I 11 None 0.4447 None gnomAD-4.0.0 1.5911E-06
31025 10 F/L 12 None 0.3035 None gnomAD-4.0.0 2.40064E-06
31025 10 F/V 12 None 0.3035 None gnomAD-4.0.0 6.00161E-06
31026 11 K/E 13 rs759887010 0.7069 None gnomAD-2.1.1 4.02E-06
31026 11 K/E 13 rs759887010 0.7069 None gnomAD-4.0.0 1.59113E-06
31026 11 K/R 13 rs1698120195 0.7069 None gnomAD-4.0.0 2.05255E-06
31028 13 V/M 15 None 0.2225 None gnomAD-4.0.0 1.20032E-06
31030 15 R/Q 17 rs766391515 0.6183 None gnomAD-2.1.1 1.21E-05
31030 15 R/Q 17 rs766391515 0.6183 None gnomAD-3.1.2 1.31E-05
31030 15 R/Q 17 rs766391515 0.6183 None gnomAD-4.0.0 9.29512E-06
31030 15 R/W 17 rs879008666 0.6183 None gnomAD-3.1.2 6.58E-06
31030 15 R/W 17 rs879008666 0.6183 None gnomAD-4.0.0 3.71825E-06
31031 16 G/E 18 rs780711664 0.2085 None gnomAD-2.1.1 8.05E-06
31031 16 G/E 18 rs780711664 0.2085 None gnomAD-3.1.2 1.31E-05
31031 16 G/E 18 rs780711664 0.2085 None gnomAD-4.0.0 2.47872E-06
31031 16 G/V 18 None 0.2085 None gnomAD-4.0.0 1.36837E-06
31032 17 S/C 19 None 0.1490 None gnomAD-4.0.0 1.20032E-06
31032 17 S/F 19 rs1698112765 0.1490 None gnomAD-3.1.2 6.57E-06
31032 17 S/F 19 rs1698112765 0.1490 None gnomAD-4.0.0 6.57125E-06
31034 19 T/A 21 rs1575474576 0.1421 None gnomAD-3.1.2 6.57E-06
31034 19 T/A 21 rs1575474576 0.1421 None gnomAD-4.0.0 5.12411E-06
31035 20 L/V 22 rs760377288 0.0844 None gnomAD-2.1.1 4.02E-06
31035 20 L/V 22 rs760377288 0.0844 None gnomAD-4.0.0 3.60097E-06
31036 21 M/T 23 rs376942948 0.3491 None gnomAD-2.1.1 2.82E-05
31036 21 M/T 23 rs376942948 0.3491 None gnomAD-3.1.2 3.94E-05
31036 21 M/T 23 rs376942948 0.3491 None 1000 genomes 3.99361E-04
31036 21 M/T 23 rs376942948 0.3491 None gnomAD-4.0.0 2.16874E-05
31038 23 D/N 25 None 0.7864 None gnomAD-4.0.0 1.20032E-06
31039 24 A/G 26 rs1188711854 0.3635 None gnomAD-3.1.2 1.97E-05
31039 24 A/G 26 rs1188711854 0.3635 None gnomAD-4.0.0 1.97187E-05
31039 24 A/S 26 rs1442882348 0.3635 None gnomAD-2.1.1 3.18E-05
31039 24 A/S 26 rs1442882348 0.3635 None gnomAD-3.1.2 6.57E-06
31039 24 A/S 26 rs1442882348 0.3635 None gnomAD-4.0.0 6.57229E-06
31039 24 A/T 26 None 0.3635 None gnomAD-4.0.0 1.20032E-06
31039 24 A/V 26 None 0.3635 None gnomAD-4.0.0 1.59111E-06
31041 26 L/F 28 None 1.2490 None gnomAD-4.0.0 6.84176E-07
31041 26 L/I 28 rs1698098552 1.2490 None gnomAD-4.0.0 6.84176E-07
31041 26 L/V 28 None 1.2490 None gnomAD-4.0.0 6.84176E-07
31042 27 L/P 29 rs1575474263 0.3892 None gnomAD-4.0.0 1.36835E-06
31043 28 D/E 30 rs758336721 0.3419 None gnomAD-2.1.1 4.03E-06
31043 28 D/E 30 rs758336721 0.3419 None gnomAD-3.1.2 6.57E-06
31043 28 D/E 30 rs758336721 0.3419 None gnomAD-4.0.0 6.84184E-07
31043 28 D/G 30 rs1455870717 0.3419 None gnomAD-2.1.1 4.03E-06
31043 28 D/G 30 rs1455870717 0.3419 None gnomAD-4.0.0 1.59106E-06
31044 29 G/C 31 rs750213547 0.1048 None gnomAD-3.1.2 5.92E-05
31044 29 G/C 31 rs750213547 0.1048 None gnomAD-4.0.0 1.1774E-05
31044 29 G/D 31 rs570464905 0.1048 None gnomAD-2.1.1 1.61E-05
31044 29 G/D 31 rs570464905 0.1048 None gnomAD-3.1.2 2.63E-05
31044 29 G/D 31 rs570464905 0.1048 None gnomAD-4.0.0 2.91245E-05
31044 29 G/S 31 rs750213547 0.1048 None gnomAD-2.1.1 4.83E-05
31044 29 G/S 31 rs750213547 0.1048 None gnomAD-3.1.2 2.63E-05
31044 29 G/S 31 rs750213547 0.1048 None gnomAD-4.0.0 6.25881E-05
31044 29 G/V 31 rs570464905 0.1048 None gnomAD-2.1.1 1.21493E-04
31044 29 G/V 31 rs570464905 0.1048 None gnomAD-3.1.2 9.2E-05
31044 29 G/V 31 rs570464905 0.1048 None gnomAD-4.0.0 1.6917E-04
31045 30 G/S 32 None 0.3041 None gnomAD-4.0.0 1.36836E-06
31047 32 R/Q 34 rs753897943 0.6687 None gnomAD-2.1.1 1.61E-05
31047 32 R/Q 34 rs753897943 0.6687 None gnomAD-3.1.2 6.57E-06
31047 32 R/Q 34 rs753897943 0.6687 None gnomAD-4.0.0 1.11544E-05
31048 33 I/F 35 None 0.1892 None gnomAD-4.0.0 6.84184E-07
31048 33 I/V 35 None 0.1892 None gnomAD-4.0.0 6.84184E-07
31049 34 H/N 36 None 0.6792 None gnomAD-4.0.0 1.59112E-06
31049 34 H/Q 36 None 0.6792 None gnomAD-4.0.0 1.20032E-06
31049 34 H/Y 36 None 0.6792 None gnomAD-4.0.0 1.59112E-06
31050 35 H/R 37 None 0.2192 None gnomAD-4.0.0 3.18226E-06
31052 37 V/A 39 None 0.2053 None gnomAD-4.0.0 1.20032E-06
31052 37 V/L 39 None 0.2053 None gnomAD-4.0.0 6.84178E-07
31052 37 V/M 39 rs764170998 0.2053 None gnomAD-2.1.1 1.21E-05
31052 37 V/M 39 rs764170998 0.2053 None gnomAD-4.0.0 4.78925E-06
31053 38 V/A 40 None 0.0861 None gnomAD-4.0.0 1.20032E-06
31053 38 V/L 40 None 0.0861 None gnomAD-4.0.0 1.20032E-06
31054 39 E/K 41 rs1049541565 0.1189 None gnomAD-4.0.0 1.59107E-06
31055 40 K/I 42 None 0.2147 None gnomAD-4.0.0 1.59111E-06
31056 41 R/L 43 None 0.1308 None gnomAD-3.1.2 6.57E-06
31056 41 R/L 43 None 0.1308 None gnomAD-4.0.0 6.56668E-06
31056 41 R/Q 43 rs201377736 0.1308 None gnomAD-3.1.2 1.97E-05
31056 41 R/Q 43 rs201377736 0.1308 None gnomAD-4.0.0 8.67471E-06
31057 42 E/D 44 rs759940210 0.2697 None gnomAD-3.1.2 6.57E-06
31057 42 E/D 44 rs759940210 0.2697 None gnomAD-4.0.0 1.85904E-06
31057 42 E/G 44 rs1353038457 0.2697 None gnomAD-3.1.2 6.57E-06
31057 42 E/G 44 rs1353038457 0.2697 None gnomAD-4.0.0 6.5741E-06
31057 42 E/K 44 rs767977295 0.2697 None gnomAD-2.1.1 3.19E-05
31057 42 E/K 44 rs767977295 0.2697 None gnomAD-3.1.2 6.57E-06
31057 42 E/K 44 rs767977295 0.2697 None gnomAD-4.0.0 6.57125E-06
31058 43 A/S 50 rs1232455758 0.2524 None gnomAD-2.1.1 4.03E-06
31058 43 A/S 50 rs1232455758 0.2524 None gnomAD-4.0.0 6.84185E-07
31058 43 A/T 50 rs1232455758 0.2524 None gnomAD-2.1.1 4.03E-06
31058 43 A/T 50 rs1232455758 0.2524 None gnomAD-4.0.0 6.15767E-06
31058 43 A/V 50 None 0.2524 None gnomAD-4.0.0 1.5911E-06
31059 44 S/R 54 rs769465936 0.6228 None gnomAD-2.1.1 4.03E-06
31059 44 S/T 54 rs774647356 0.6228 None gnomAD-2.1.1 4.03E-06
31059 44 S/T 54 rs774647356 0.6228 None gnomAD-4.0.0 1.36835E-06
31060 45 R/C 60 rs750303653 0.5706 None gnomAD-2.1.1 2.82E-05
31060 45 R/C 60 rs750303653 0.5706 None gnomAD-3.1.2 6.57E-06
31060 45 R/C 60 rs750303653 0.5706 None gnomAD-4.0.0 1.92106E-05
31060 45 R/H 60 rs776018262 0.5706 None gnomAD-2.1.1 2.15E-05
31060 45 R/H 60 rs776018262 0.5706 None gnomAD-3.1.2 3.94E-05
31060 45 R/H 60 rs776018262 0.5706 None gnomAD-4.0.0 2.54071E-05
31060 45 R/S 60 None 0.5706 None gnomAD-4.0.0 6.84187E-07
31061 46 R/C 63 rs768270597 0.9483 None gnomAD-2.1.1 8.05E-06
31061 46 R/C 63 rs768270597 0.9483 None gnomAD-3.1.2 1.31E-05
31061 46 R/C 63 rs768270597 0.9483 None gnomAD-4.0.0 3.71818E-06
31061 46 R/H 63 rs727504923 0.9483 None gnomAD-2.1.1 3.58E-05
31061 46 R/H 63 rs727504923 0.9483 None gnomAD-3.1.2 7.89E-05
31061 46 R/H 63 rs727504923 0.9483 None gnomAD-4.0.0 2.66461E-05
31061 46 R/P 63 rs727504923 0.9483 None gnomAD-3.1.2 6.57E-06
31061 46 R/P 63 rs727504923 0.9483 None gnomAD-4.0.0 6.57246E-06
31062 47 S/G 64 None 0.5661 None gnomAD-4.0.0 1.59113E-06
31064 49 Q/H 66 None 0.5933 None gnomAD-4.0.0 2.16058E-05
31064 49 Q/P 66 None 0.5933 None gnomAD-4.0.0 1.20032E-06
31067 52 S/T 69 rs373173796 0.1448 None gnomAD-3.1.2 6.57E-06
31067 52 S/T 69 rs373173796 0.1448 None gnomAD-4.0.0 6.57289E-06
31071 56 T/A 83 rs1321544592 0.6934 None gnomAD-2.1.1 4.03E-06
31071 56 T/A 83 rs1321544592 0.6934 None gnomAD-4.0.0 1.59114E-06
31071 56 T/I 83 rs780080115 0.6934 None gnomAD-4.0.0 1.20032E-06
31072 57 R/C 88 rs368932767 0.7304 None gnomAD-2.1.1 5.37E-05
31072 57 R/C 88 rs368932767 0.7304 None gnomAD-3.1.2 1.05184E-04
31072 57 R/C 88 rs368932767 0.7304 None gnomAD-4.0.0 1.14644E-04
31072 57 R/G 88 rs368932767 0.7304 None gnomAD-2.1.1 4.03E-06
31072 57 R/G 88 rs368932767 0.7304 None gnomAD-4.0.0 2.05257E-06
31072 57 R/H 88 rs141817409 0.7304 None gnomAD-2.1.1 1.14448E-04
31072 57 R/H 88 rs141817409 0.7304 None gnomAD-3.1.2 2.8928E-04
31072 57 R/H 88 rs141817409 0.7304 None 1000 genomes 7.98722E-04
31072 57 R/H 88 rs141817409 0.7304 None gnomAD-4.0.0 7.74568E-05
31075 60 F/I 91 rs956327300 0.2201 None gnomAD-2.1.1 3.18E-05
31075 60 F/I 91 rs956327300 0.2201 None gnomAD-3.1.2 6.57E-06
31075 60 F/I 91 rs956327300 0.2201 None gnomAD-4.0.0 6.57237E-06
31075 60 F/L 91 rs956327300 0.2201 None gnomAD-2.1.1 1.21E-05
31075 60 F/L 91 rs956327300 0.2201 None gnomAD-4.0.0 1.02628E-05
31076 61 K/Q 92 rs778813590 0.3297 None gnomAD-2.1.1 8.06E-06
31076 61 K/Q 92 rs778813590 0.3297 None gnomAD-3.1.2 1.31E-05
31076 61 K/Q 92 rs778813590 0.3297 None gnomAD-4.0.0 1.31461E-05
31076 61 K/R 92 rs1186129682 0.3297 None gnomAD-2.1.1 4.03E-06
31076 61 K/R 92 rs1186129682 0.3297 None gnomAD-4.0.0 1.59114E-06
31078 63 N/S 94 None 0.4962 None gnomAD-4.0.0 3.18227E-06
31081 66 A/P 98 rs754037471 0.3471 None gnomAD-2.1.1 4.03E-06
31081 66 A/P 98 rs754037471 0.3471 None gnomAD-4.0.0 6.84186E-07
31081 66 A/T 98 None 0.3471 None gnomAD-4.0.0 6.84186E-07
31081 66 A/V 98 rs1032232850 0.3471 None gnomAD-2.1.1 5.24E-05
31081 66 A/V 98 rs1032232850 0.3471 None gnomAD-3.1.2 2.63E-05
31081 66 A/V 98 rs1032232850 0.3471 None gnomAD-4.0.0 2.69029E-05
31082 67 E/D 99 None 0.7339 None gnomAD-4.0.0 1.20032E-06
31082 67 E/K 99 rs199663613 0.7339 None gnomAD-2.1.1 6.44E-05
31082 67 E/K 99 rs199663613 0.7339 None gnomAD-3.1.2 1.64296E-04
31082 67 E/K 99 rs199663613 0.7339 None 1000 genomes 1.99681E-04
31082 67 E/K 99 rs199663613 0.7339 None gnomAD-4.0.0 4.21347E-05
31083 68 G/D 100 None 0.4812 None gnomAD-4.0.0 1.20032E-06
31083 68 G/S 100 rs1028442562 0.4812 None gnomAD-4.0.0 1.36836E-05
31083 68 G/V 100 None 0.4812 None gnomAD-4.0.0 1.20032E-06
31084 69 V/D 102 None 0.2326 None gnomAD-4.0.0 6.84184E-07
31085 70 P/L 103 rs549841864 0.3170 None gnomAD-2.1.1 1.39443E-04
31085 70 P/L 103 rs549841864 0.3170 None gnomAD-3.1.2 1.05193E-04
31085 70 P/L 103 rs549841864 0.3170 None 1000 genomes 1.99681E-04
31085 70 P/L 103 rs549841864 0.3170 None gnomAD-4.0.0 7.31195E-05
31087 72 Y/S 105 rs901131458 0.1914 None gnomAD-4.0.0 2.05256E-06
31088 73 F/L 106 rs751923958 0.1196 None gnomAD-3.1.2 6.57E-06
31088 73 F/L 106 rs751923958 0.1196 None gnomAD-4.0.0 6.57289E-06
31088 73 F/V 106 rs1023137329 0.1196 None gnomAD-2.1.1 4.03E-06
31088 73 F/V 106 rs1023137329 0.1196 None gnomAD-3.1.2 1.31E-05
31088 73 F/V 106 rs1023137329 0.1196 None gnomAD-4.0.0 1.79703E-05
31089 74 R/C 107 rs766670903 0.1690 None gnomAD-2.1.1 1.61E-05
31089 74 R/C 107 rs766670903 0.1690 None gnomAD-4.0.0 1.16312E-05
31089 74 R/H 107 rs367993101 0.1690 None gnomAD-2.1.1 2.86E-05
31089 74 R/H 107 rs367993101 0.1690 None gnomAD-3.1.2 3.94E-05
31089 74 R/H 107 rs367993101 0.1690 None gnomAD-4.0.0 1.79713E-05
31089 74 R/S 107 None 0.1690 None gnomAD-4.0.0 6.8419E-07
31090 75 V/I 108 rs886044086 0.0862 None gnomAD-2.1.1 3.18E-05
31090 75 V/I 108 rs886044086 0.0862 None gnomAD-3.1.2 6.57E-06
31090 75 V/I 108 rs886044086 0.0862 None gnomAD-4.0.0 6.57212E-06
31091 76 S/F 109 None 0.1368 None gnomAD-4.0.0 1.20032E-06
31092 77 A/T 110 None 0.0891 None gnomAD-4.0.0 1.59117E-06
31092 77 A/V 110 rs1458806643 0.0891 None gnomAD-2.1.1 4.03E-06
31092 77 A/V 110 rs1458806643 0.0891 None gnomAD-4.0.0 1.59123E-06
31094 79 N/K 112 rs1698030124 0.1093 None gnomAD-4.0.0 1.20047E-06
31095 80 E/G 113 rs1235567368 0.4765 None gnomAD-3.1.2 6.57E-06
31095 80 E/G 113 rs1235567368 0.4765 None gnomAD-4.0.0 2.56201E-06
31095 80 E/K 113 None 0.4765 None gnomAD-4.0.0 3.18228E-06
31096 81 Y/C 114 None 0.3488 None gnomAD-4.0.0 1.08029E-05
31097 82 G/D 115 rs879219987 0.2221 None gnomAD-2.1.1 4.02E-06
31097 82 G/D 115 rs879219987 0.2221 None gnomAD-4.0.0 1.59113E-06
31098 83 V/A 117 None 0.5380 None gnomAD-4.0.0 6.84183E-07
31098 83 V/D 117 rs886378576 0.5380 None gnomAD-4.0.0 6.84183E-07
31098 83 V/I 117 rs760282296 0.5380 None gnomAD-2.1.1 3.93E-05
31098 83 V/I 117 rs760282296 0.5380 None gnomAD-3.1.2 8.54E-05
31098 83 V/I 117 rs760282296 0.5380 None gnomAD-4.0.0 1.85904E-05
31099 84 G/S 118 rs2154147309 0.1476 None gnomAD-4.0.0 1.20032E-06
31100 85 E/K 119 None 0.5129 None gnomAD-4.0.0 1.20032E-06
31101 86 P/T 120 None 0.3518 None gnomAD-4.0.0 2.05257E-06
31102 87 Y/C 121 rs374084427 0.2072 None gnomAD-2.1.1 4.29E-05
31102 87 Y/C 121 rs374084427 0.2072 None gnomAD-3.1.2 3.29E-05
31102 87 Y/C 121 rs374084427 0.2072 None gnomAD-4.0.0 3.65641E-05
31102 87 Y/F 121 None 0.2072 None gnomAD-4.0.0 6.84183E-07
31102 87 Y/H 121 None 0.2072 None gnomAD-4.0.0 1.20032E-06
31104 89 M/I 123 rs745736147 0.1256 None gnomAD-2.1.1 4.03E-06
31104 89 M/I 123 rs745736147 0.1256 None gnomAD-4.0.0 1.59116E-06
31104 89 M/T 123 rs772169998 0.1256 None gnomAD-2.1.1 1.21E-05
31104 89 M/T 123 rs772169998 0.1256 None gnomAD-4.0.0 7.95553E-06
31105 90 P/T 124 None 0.6138 None gnomAD-4.0.0 1.59118E-06
31107 92 P/L 126 None 0.2628 None gnomAD-4.0.0 1.59109E-06
31107 92 P/Q 126 None 0.2628 None gnomAD-4.0.0 1.59109E-06
31107 92 P/S 126 None 0.2628 None gnomAD-4.0.0 1.20032E-06
31108 93 I/N 127 None 0.1918 None gnomAD-4.0.0 6.84176E-07
31108 93 I/S 127 None 0.1918 None gnomAD-4.0.0 2.05253E-06
31108 93 I/T 127 rs373732722 0.1918 None gnomAD-2.1.1 1.08672E-04
31108 93 I/T 127 rs373732722 0.1918 None gnomAD-3.1.2 6.57E-05
31108 93 I/T 127 rs373732722 0.1918 None 1000 genomes 1.99681E-04
31108 93 I/T 127 rs373732722 0.1918 None gnomAD-4.0.0 6.19626E-05
31108 93 I/V 127 rs727504787 0.1918 None gnomAD-2.1.1 8.06E-06
31108 93 I/V 127 rs727504787 0.1918 None gnomAD-3.1.2 1.31E-05
31108 93 I/V 127 rs727504787 0.1918 None gnomAD-4.0.0 1.05345E-05
31109 94 V/A 129 rs755487582 0.2905 None gnomAD-2.1.1 4.03E-06
31109 94 V/A 129 rs755487582 0.2905 None gnomAD-4.0.0 2.05254E-06
31109 94 V/I 129 None 0.2905 None gnomAD-4.0.0 1.36911E-06
31109 94 V/L 129 rs781180489 0.2905 None gnomAD-4.0.0 1.88296E-04
31111 96 T/A 131 None 0.5092 None gnomAD-4.0.0 1.20032E-06
31112 97 E/D 132 None 0.4652 None gnomAD-4.0.0 1.20032E-06
31112 97 E/K 132 rs367766603 0.4652 None gnomAD-2.1.1 4.02E-06
31112 97 E/K 132 rs367766603 0.4652 None gnomAD-4.0.0 1.36835E-06
31112 97 E/Q 132 None 0.4652 None gnomAD-4.0.0 6.84177E-07