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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19284 1 V/G 1 rs934353226 0.5133 None gnomAD-3.1.2 6.58E-06
19284 1 V/G 1 rs934353226 0.5133 None gnomAD-4.0.0 4.38862E-06
19284 1 V/I 1 rs377270926 0.5133 None gnomAD-2.1.1 8.52E-06
19284 1 V/I 1 rs377270926 0.5133 None gnomAD-3.1.2 1.32E-05
19284 1 V/I 1 rs377270926 0.5133 None gnomAD-4.0.0 6.8952E-06
19286 3 E/K 3 rs558844442 0.4082 None gnomAD-3.1.2 6.58E-06
19286 3 E/K 3 rs558844442 0.4082 None 1000 genomes 1.99681E-04
19286 3 E/K 3 rs558844442 0.4082 None gnomAD-4.0.0 6.57289E-06
19286 3 E/Q 3 rs558844442 0.4082 None gnomAD-2.1.1 4.24E-06
19286 3 E/Q 3 rs558844442 0.4082 None gnomAD-4.0.0 2.76979E-06
19287 4 R/C 4 rs372710684 0.3739 None gnomAD-2.1.1 3.31E-05
19287 4 R/C 4 rs372710684 0.3739 None gnomAD-3.1.2 1.97E-05
19287 4 R/C 4 rs372710684 0.3739 None gnomAD-4.0.0 1.18486E-05
19287 4 R/G 4 rs372710684 0.3739 None gnomAD-3.1.2 6.58E-06
19287 4 R/G 4 rs372710684 0.3739 None gnomAD-4.0.0 6.57748E-06
19287 4 R/H 4 rs371422299 0.3739 None gnomAD-2.1.1 6.61E-05
19287 4 R/H 4 rs371422299 0.3739 None gnomAD-3.1.2 1.97E-05
19287 4 R/H 4 rs371422299 0.3739 None 1000 genomes 1.99681E-04
19287 4 R/H 4 rs371422299 0.3739 None gnomAD-4.0.0 2.80602E-05
19288 5 P/A 5 rs1490097960 0.1119 None gnomAD-2.1.1 4.07E-06
19288 5 P/A 5 rs1490097960 0.1119 None gnomAD-4.0.0 1.60208E-06
19288 5 P/R 5 None 0.1119 Other
Literature None
19289 6 E/A 6 None 0.3205 None gnomAD-4.0.0 1.6007E-06
19289 6 E/K 6 rs1031046164 0.3205 None gnomAD-3.1.2 6.58E-06
19289 6 E/K 6 rs1031046164 0.3205 None gnomAD-4.0.0 6.57652E-06
19290 7 D/G 7 rs749345178 0.5583 None gnomAD-2.1.1 4.06E-06
19290 7 D/G 7 rs749345178 0.5583 None gnomAD-4.0.0 1.60019E-06
19290 7 D/H 7 rs770980138 0.5583 None gnomAD-2.1.1 8.14E-06
19290 7 D/H 7 rs770980138 0.5583 None gnomAD-4.0.0 4.80375E-06
19291 8 L/M 9 None 0.1937 None gnomAD-4.0.0 6.85515E-07
19291 8 L/Q 9 None 0.1937 None gnomAD-4.0.0 1.59786E-06
19291 8 L/V 9 rs773843429 0.1937 None gnomAD-2.1.1 8.11E-06
19291 8 L/V 9 rs773843429 0.1937 None gnomAD-4.0.0 1.37103E-06
19292 9 E/A 11 rs1225953212 0.4656 None gnomAD-2.1.1 4.05E-06
19292 9 E/A 11 rs1225953212 0.4656 None gnomAD-4.0.0 1.59757E-06
19294 11 K/N 13 None 0.4561 None gnomAD-4.0.0 1.5964E-06
19296 13 V/I 15 rs770490179 0.2512 None gnomAD-2.1.1 8.09E-06
19296 13 V/I 15 rs770490179 0.2512 None gnomAD-4.0.0 4.78903E-06
19297 14 T/I 16 None 0.2655 None gnomAD-4.0.0 1.59534E-06
19297 14 T/S 16 None 0.2655 None gnomAD-4.0.0 1.59529E-06
19298 15 K/Q 17 rs781725039 0.5396 None gnomAD-2.1.1 1.61E-05
19298 15 K/Q 17 rs781725039 0.5396 None gnomAD-4.0.0 3.50909E-05
19299 16 N/H 18 rs768931487 0.4348 None gnomAD-2.1.1 8.07E-06
19299 16 N/H 18 rs768931487 0.4348 None gnomAD-3.1.2 6.57E-06
19299 16 N/H 18 rs768931487 0.4348 None gnomAD-4.0.0 5.13313E-06
19300 17 T/A 19 rs1303630569 0.2101 None gnomAD-2.1.1 8.07E-06
19300 17 T/A 19 rs1303630569 0.2101 None gnomAD-4.0.0 4.78292E-06
19300 17 T/N 19 rs979451740 0.2101 None gnomAD-4.0.0 2.73922E-06
19301 18 V/I 20 rs1210344440 0.1070 None gnomAD-3.1.2 6.58E-06
19301 18 V/I 20 rs1210344440 0.1070 None gnomAD-4.0.0 2.56553E-06
19302 19 T/I 21 None 0.1784 None gnomAD-4.0.0 1.59357E-06
19302 19 T/P 21 rs2051000706 0.1784 None gnomAD-3.1.2 1.31E-05
19302 19 T/P 21 rs2051000706 0.1784 None gnomAD-4.0.0 3.8478E-06
19303 20 L/F 22 rs868588764 0.0965 None gnomAD-3.1.2 6.58E-06
19303 20 L/M 22 rs1395931081 0.0965 None gnomAD-2.1.1 4.03E-06
19303 20 L/M 22 rs1395931081 0.0965 None gnomAD-4.0.0 6.84596E-07
19303 20 L/V 22 None 0.0965 None gnomAD-4.0.0 2.05379E-06
19304 21 T/P 23 None 0.2203 None gnomAD-4.0.0 3.42283E-06
19305 22 W/S 24 None 0.1100 None gnomAD-4.0.0 1.36913E-06
19307 24 P/R 26 None 0.3330 None gnomAD-4.0.0 1.20039E-06
19308 25 P/L 27 rs745457069 0.1327 None gnomAD-2.1.1 1.43E-05
19308 25 P/L 27 rs745457069 0.1327 None gnomAD-3.1.2 1.32E-05
19308 25 P/L 27 rs745457069 0.1327 None gnomAD-4.0.0 1.2822E-05
19309 26 K/M 28 None 0.6691 None gnomAD-4.0.0 6.8451E-07
19309 26 K/R 28 None 0.6691 None gnomAD-4.0.0 2.05353E-06
19311 28 D/H 30 None 0.2182 None gnomAD-4.0.0 1.59247E-06
19312 29 G/D 31 rs1559625655 0.1858 None gnomAD-2.1.1 8.05E-06
19312 29 G/D 31 rs1559625655 0.1858 None gnomAD-4.0.0 4.79102E-06
19312 29 G/R 31 rs753408795 0.1858 None gnomAD-2.1.1 4.03E-06
19312 29 G/R 31 rs753408795 0.1858 None gnomAD-4.0.0 1.16354E-05
19312 29 G/S 31 rs753408795 0.1858 None gnomAD-2.1.1 7.15E-06
19312 29 G/S 31 rs753408795 0.1858 None gnomAD-3.1.2 2.63E-05
19312 29 G/S 31 rs753408795 0.1858 None gnomAD-4.0.0 3.71946E-06
19313 30 G/A 32 rs777653912 0.5244 None gnomAD-2.1.1 4.03E-06
19313 30 G/A 32 rs777653912 0.5244 None gnomAD-4.0.0 1.59243E-06
19313 30 G/R 32 None 0.5244 None gnomAD-4.0.0 3.1848E-06
19316 33 I/V 35 rs756090879 0.1334 None gnomAD-2.1.1 4.02E-06
19316 33 I/V 35 rs756090879 0.1334 None gnomAD-4.0.0 1.59234E-06
19317 34 I/L 36 rs752651782 0.3138 None gnomAD-3.1.2 6.57E-06
19317 34 I/L 36 rs752651782 0.3138 None gnomAD-4.0.0 6.57246E-06
19317 34 I/T 36 rs1249290348 0.3138 None gnomAD-2.1.1 4.02E-06
19317 34 I/T 36 rs1249290348 0.3138 None gnomAD-4.0.0 3.18466E-06
19317 34 I/V 36 rs752651782 0.3138 None gnomAD-2.1.1 4.02E-06
19317 34 I/V 36 rs752651782 0.3138 None gnomAD-4.0.0 1.59231E-06
19318 35 N/K 37 rs756463146 0.1855 None gnomAD-2.1.1 8.05E-06
19318 35 N/K 37 rs756463146 0.1855 None gnomAD-4.0.0 1.64257E-05
19318 35 N/T 37 rs767305625 0.1855 None gnomAD-2.1.1 1.61E-05
19318 35 N/T 37 rs767305625 0.1855 None gnomAD-3.1.2 1.31E-05
19318 35 N/T 37 rs767305625 0.1855 None gnomAD-4.0.0 1.4256E-05
19319 36 Y/C 38 rs369082749 0.1158 None gnomAD-2.1.1 2.86E-05
19319 36 Y/C 38 rs369082749 0.1158 None gnomAD-3.1.2 3.29E-05
19319 36 Y/C 38 rs369082749 0.1158 None gnomAD-4.0.0 2.54148E-05
19321 38 L/P 40 rs1395371412 0.0974 None gnomAD-4.0.0 1.5922E-06
19322 39 E/G 41 rs2050988778 0.1465 None gnomAD-4.0.0 1.44039E-05
19322 39 E/Q 41 None 0.1465 None gnomAD-4.0.0 1.59222E-06
19323 40 S/R 42 None 0.1535 None gnomAD-4.0.0 1.20032E-06
19324 41 R/Q 43 rs186809500 0.2199 None gnomAD-2.1.1 7.24E-05
19324 41 R/Q 43 rs186809500 0.2199 None gnomAD-3.1.2 5.26E-05
19324 41 R/Q 43 rs186809500 0.2199 None 1000 genomes 5.99042E-04
19324 41 R/Q 43 rs186809500 0.2199 None gnomAD-4.0.0 2.35542E-05
19324 41 R/W 43 rs1203435642 0.2199 None gnomAD-2.1.1 8.05E-06
19324 41 R/W 43 rs1203435642 0.2199 None gnomAD-3.1.2 6.58E-06
19324 41 R/W 43 rs1203435642 0.2199 None gnomAD-4.0.0 6.81886E-06
19326 43 I/F 50 None 0.4724 None gnomAD-4.0.0 1.20032E-06
19326 43 I/M 50 rs763120020 0.4724 None gnomAD-2.1.1 8.04E-06
19326 43 I/M 50 rs763120020 0.4724 None gnomAD-4.0.0 3.42184E-06
19326 43 I/T 50 rs766571281 0.4724 None gnomAD-2.1.1 1.61E-05
19326 43 I/T 50 rs766571281 0.4724 None gnomAD-4.0.0 6.15935E-06
19329 46 E/D 63 rs375818281 0.9644 None gnomAD-2.1.1 7.14E-06
19329 46 E/D 63 rs375818281 0.9644 None gnomAD-3.1.2 1.32E-05
19329 46 E/D 63 rs375818281 0.9644 None gnomAD-4.0.0 1.36875E-06
19329 46 E/Q 63 rs975610705 0.9644 None gnomAD-2.1.1 3.19E-05
19329 46 E/Q 63 rs975610705 0.9644 None gnomAD-3.1.2 1.32E-05
19329 46 E/Q 63 rs975610705 0.9644 None gnomAD-4.0.0 1.31501E-05
19331 48 F/L 65 rs1449016899 0.1829 None gnomAD-2.1.1 4.02E-06
19331 48 F/L 65 rs1449016899 0.1829 None gnomAD-4.0.0 2.73747E-06
19332 49 H/Q 66 rs762362185 0.5730 None gnomAD-3.1.2 6.58E-06
19332 49 H/Q 66 rs762362185 0.5730 None gnomAD-4.0.0 6.57661E-06
19332 49 H/Y 66 rs770403940 0.5730 None gnomAD-2.1.1 4.02E-06
19332 49 H/Y 66 rs770403940 0.5730 None gnomAD-4.0.0 1.59214E-06
19333 50 K/N 67 rs777279726 0.3191 None gnomAD-4.0.0 1.59211E-06
19333 50 K/R 67 rs1469122729 0.3191 None gnomAD-2.1.1 4.02E-06
19333 50 K/R 67 rs1469122729 0.3191 None gnomAD-4.0.0 3.18422E-06
19334 51 V/D 68 rs546716167 0.2517 None gnomAD-2.1.1 1.21E-05
19334 51 V/D 68 rs546716167 0.2517 None gnomAD-3.1.2 1.32E-05
19334 51 V/D 68 rs546716167 0.2517 None 1000 genomes 1.99681E-04
19334 51 V/D 68 rs546716167 0.2517 None gnomAD-4.0.0 8.67741E-06
19334 51 V/I 68 None 0.2517 None gnomAD-2.1.1 8.04E-06
19334 51 V/I 68 None 0.2517 None gnomAD-3.1.2 6.58E-06
19334 51 V/I 68 None 0.2517 None gnomAD-4.0.0 2.47943E-06
19334 51 V/L 68 rs769006307 0.2517 None gnomAD-3.1.2 1.32E-05
19334 51 V/L 68 rs769006307 0.2517 None gnomAD-4.0.0 3.09928E-06
19335 52 T/A 69 rs752763361 0.1806 None gnomAD-4.0.0 1.20032E-06
19335 52 T/I 69 rs878924097 0.1806 None gnomAD-2.1.1 4.02E-06
19335 52 T/I 69 rs878924097 0.1806 None gnomAD-4.0.0 4.77661E-06
19336 53 N/I 70 rs371851242 0.9903 None gnomAD-2.1.1 3.21E-05
19336 53 N/I 70 rs371851242 0.9903 None gnomAD-3.1.2 4.6E-05
19336 53 N/I 70 rs371851242 0.9903 None gnomAD-4.0.0 5.82666E-05
19337 54 D/E 72 None 0.8730 None gnomAD-4.0.0 3.1844E-06
19337 54 D/N 72 rs1239348052 0.8730 None gnomAD-2.1.1 4.02E-06
19337 54 D/N 72 rs1239348052 0.8730 None gnomAD-4.0.0 1.59223E-06
19339 56 L/F 77 rs368025965 0.1355 None gnomAD-2.1.1 2.86E-05
19339 56 L/F 77 rs368025965 0.1355 None gnomAD-3.1.2 5.92E-05
19339 56 L/F 77 rs368025965 0.1355 None gnomAD-4.0.0 1.11578E-04
19340 57 L/H 83 rs777213118 0.5879 None gnomAD-2.1.1 7.14E-06
19340 57 L/H 83 rs777213118 0.5879 None gnomAD-3.1.2 6.58E-06
19340 57 L/H 83 rs777213118 0.5879 None gnomAD-4.0.0 1.11575E-05
19341 58 S/N 88 rs536645864 0.3646 None gnomAD-2.1.1 7.64E-05
19341 58 S/N 88 rs536645864 0.3646 None gnomAD-3.1.2 1.32E-05
19341 58 S/N 88 rs536645864 0.3646 None 1000 genomes 1.99681E-04
19341 58 S/N 88 rs536645864 0.3646 None gnomAD-4.0.0 4.71078E-05
19342 59 R/I 89 None 0.4124 None gnomAD-4.0.0 2.05311E-06
19342 59 R/K 89 None 0.4124 None gnomAD-4.0.0 6.84371E-07
19345 62 T/A 92 rs567680958 0.2693 None gnomAD-2.1.1 3.62E-05
19345 62 T/A 92 rs567680958 0.2693 None gnomAD-3.1.2 6.57E-06
19345 62 T/A 92 rs567680958 0.2693 None 1000 genomes 1.99681E-04
19345 62 T/A 92 rs567680958 0.2693 None gnomAD-4.0.0 1.17765E-05
19345 62 T/I 92 rs551040385 0.2693 None gnomAD-2.1.1 4.02E-06
19345 62 T/I 92 rs551040385 0.2693 None gnomAD-3.1.2 6.58E-06
19345 62 T/I 92 rs551040385 0.2693 None 1000 genomes 1.99681E-04
19345 62 T/I 92 rs551040385 0.2693 None gnomAD-4.0.0 6.57212E-06
19345 62 T/N 92 rs551040385 0.2693 None gnomAD-4.0.0 1.20033E-06
19346 63 V/A 93 rs754793079 0.1464 None gnomAD-2.1.1 4.02E-06
19346 63 V/A 93 rs754793079 0.1464 None gnomAD-4.0.0 2.12159E-05
19346 63 V/F 93 None 0.1464 None gnomAD-4.0.0 3.60098E-06
19346 63 V/G 93 None 0.1464 None gnomAD-4.0.0 6.84383E-07
19348 65 G/D 96 rs530742564 0.5738 None gnomAD-3.1.2 6.58E-06
19348 65 G/D 96 rs530742564 0.5738 None 1000 genomes 1.99681E-04
19348 65 G/D 96 rs530742564 0.5738 None gnomAD-4.0.0 6.57376E-06
19349 66 L/F 97 None 0.1640 None gnomAD-4.0.0 1.20033E-06
19351 68 E/D 99 None 0.5711 None gnomAD-4.0.0 3.18562E-06
19352 69 G/D 100 rs995136716 0.3778 None gnomAD-4.0.0 6.8451E-07
19353 70 D/N 102 None 0.3156 None gnomAD-4.0.0 1.20032E-06
19354 71 T/N 103 None 0.1823 None gnomAD-4.0.0 1.20033E-06
19355 72 Y/C 104 rs766593902 0.1519 None gnomAD-2.1.1 1.61E-05
19355 72 Y/C 104 rs766593902 0.1519 None gnomAD-3.1.2 6.57E-06
19355 72 Y/C 104 rs766593902 0.1519 None gnomAD-4.0.0 9.92088E-06
19355 72 Y/F 104 None 0.1519 None gnomAD-4.0.0 6.84634E-07
19356 73 E/D 105 None 0.1825 None gnomAD-4.0.0 8.40229E-06
19357 74 Y/C 106 rs373907843 0.1186 None gnomAD-2.1.1 1.62E-05
19357 74 Y/C 106 rs373907843 0.1186 None gnomAD-3.1.2 3.29E-05
19357 74 Y/C 106 rs373907843 0.1186 None gnomAD-4.0.0 8.98118E-06
19358 75 R/C 107 rs371973579 0.1776 None gnomAD-2.1.1 1.14861E-04
19358 75 R/C 107 rs371973579 0.1776 None gnomAD-3.1.2 1.90737E-04
19358 75 R/C 107 rs371973579 0.1776 None 1000 genomes 5.99042E-04
19358 75 R/C 107 rs371973579 0.1776 None gnomAD-4.0.0 4.71491E-05
19358 75 R/H 107 rs1023184567 0.1776 None gnomAD-2.1.1 1.21E-05
19358 75 R/H 107 rs1023184567 0.1776 None gnomAD-3.1.2 4.6E-05
19358 75 R/H 107 rs1023184567 0.1776 None gnomAD-4.0.0 2.54385E-05
19360 77 S/N 109 rs761996172 0.0977 None gnomAD-2.1.1 8.13E-06
19360 77 S/N 109 rs761996172 0.0977 None gnomAD-4.0.0 3.20004E-06
19361 78 A/T 110 None 0.0790 None gnomAD-4.0.0 1.20032E-06
19362 79 V/F 111 rs878854321 0.1316 None gnomAD-2.1.1 4.08E-06
19362 79 V/F 111 rs878854321 0.1316 None gnomAD-4.0.0 6.86932E-07
19362 79 V/I 111 None 0.1316 None gnomAD-4.0.0 1.37386E-06
19363 80 N/S 112 rs777181856 0.0844 None gnomAD-2.1.1 8.19E-06
19363 80 N/S 112 rs777181856 0.0844 None gnomAD-3.1.2 6.57E-06
19363 80 N/S 112 rs777181856 0.0844 None gnomAD-4.0.0 7.46796E-06
19364 81 I/M 113 rs182489815 0.6333 None gnomAD-2.1.1 4.09E-06
19364 81 I/M 113 rs182489815 0.6333 None gnomAD-3.1.2 1.31E-05
19364 81 I/M 113 rs182489815 0.6333 None 1000 genomes 1.99681E-04
19364 81 I/M 113 rs182489815 0.6333 None gnomAD-4.0.0 1.31392E-05
19364 81 I/N 113 rs1239668517 0.6333 None gnomAD-2.1.1 4.09E-06
19364 81 I/N 113 rs1239668517 0.6333 None gnomAD-3.1.2 6.57E-06
19364 81 I/N 113 rs1239668517 0.6333 None gnomAD-4.0.0 4.35677E-06
19364 81 I/V 113 rs1472130936 0.6333 None gnomAD-2.1.1 4.09E-06
19364 81 I/V 113 rs1472130936 0.6333 None gnomAD-4.0.0 3.21792E-06
19368 85 G/D 118 rs772445847 0.1756 None gnomAD-4.0.0 1.61572E-06
19369 86 K/E 119 rs759447234 0.8280 None gnomAD-3.1.2 6.57E-06
19369 86 K/E 119 rs759447234 0.8280 None gnomAD-4.0.0 1.43457E-05
19370 87 P/A 120 None 0.3276 None gnomAD-4.0.0 1.37864E-06
19370 87 P/T 120 rs890232785 0.3276 None gnomAD-4.0.0 6.8932E-07
19373 90 C/F 123 None 0.3043 None gnomAD-4.0.0 2.07463E-06
19373 90 C/R 123 None 0.3043 None gnomAD-4.0.0 1.62759E-06
19374 91 T/A 124 None 0.1658 None gnomAD-4.0.0 1.63015E-06
19374 91 T/S 124 rs794729463 0.1658 None gnomAD-2.1.1 6.37E-05
19374 91 T/S 124 rs794729463 0.1658 None gnomAD-3.1.2 1.97E-05
19374 91 T/S 124 rs794729463 0.1658 None gnomAD-4.0.0 6.53395E-06
19375 92 K/R 125 rs374594411 0.9214 None gnomAD-2.1.1 2.61E-05
19375 92 K/R 125 rs374594411 0.9214 None gnomAD-3.1.2 3.95E-05
19375 92 K/R 125 rs374594411 0.9214 None gnomAD-4.0.0 1.75368E-05
19376 93 P/S 126 None 0.4293 None gnomAD-4.0.0 3.46185E-06
19376 93 P/T 126 rs1226665355 0.4293 None gnomAD-2.1.1 4.23E-06
19378 95 T/I 129 rs371456511 0.3160 None gnomAD-2.1.1 8.56E-06
19378 95 T/I 129 rs371456511 0.3160 None gnomAD-4.0.0 6.56955E-06
19379 96 C/F 130 None 0.0808 None gnomAD-4.0.0 6.94046E-07
19380 97 K/T 131 rs1245279855 0.5968 None gnomAD-2.1.1 4.3E-06
19380 97 K/T 131 rs1245279855 0.5968 None gnomAD-4.0.0 1.64569E-06
19381 98 D/E 132 None 0.5734 None gnomAD-4.0.0 1.20035E-06
19381 98 D/N 132 rs1325584288 0.5734 None gnomAD-2.1.1 4.3E-06
19381 98 D/N 132 rs1325584288 0.5734 None gnomAD-4.0.0 1.64633E-06