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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31709 2 P/H 2 rs869320739 0.1170 HMERF
Literature None
31709 2 P/R 2 rs869320739 0.1170 HMERF
Literature None
31710 3 G/S 3 rs770979567 0.2191 None gnomAD-2.1.1 4.15E-06
31710 3 G/S 3 rs770979567 0.2191 None gnomAD-3.1.2 6.57E-06
31710 3 G/S 3 rs770979567 0.2191 None gnomAD-4.0.0 3.11743E-06
31711 4 P/L 4 None 0.4738 None gnomAD-4.0.0 6.88534E-07
31712 5 C/R 5 rs869320740 0.1396 None gnomAD-2.1.1 4.11E-06
31712 5 C/R 5 rs869320740 0.1396 MFM
HMERF
Literature None
31712 5 C/R 5 rs869320740 0.1396 None gnomAD-4.0.0 3.43489E-06
31712 5 C/W 5 None 0.1396 HMERF
Literature None
31712 5 C/Y 5 None 0.1396 MFM
HMERF
Literature None
31716 9 T/N 11 rs879097606 0.4257 None gnomAD-4.0.0 1.59902E-06
31716 9 T/S 11 None 0.4257 None gnomAD-4.0.0 1.59929E-06
31717 10 V/I 12 rs150930737 0.3243 None gnomAD-2.1.1 6.85E-05
31717 10 V/I 12 rs150930737 0.3243 None gnomAD-3.1.2 3.94E-05
31717 10 V/I 12 rs150930737 0.3243 None 1000 genomes 1.99681E-04
31717 10 V/I 12 rs150930737 0.3243 None gnomAD-4.0.0 3.53841E-05
31718 11 S/I 13 rs758006837 0.3605 None gnomAD-2.1.1 2.88E-05
31718 11 S/I 13 rs758006837 0.3605 None gnomAD-3.1.2 3.29E-05
31718 11 S/I 13 rs758006837 0.3605 None gnomAD-4.0.0 8.74991E-05
31718 11 S/N 13 None 0.3605 None gnomAD-4.0.0 6.85286E-07
31718 11 S/R 13 rs781462223 0.3605 None gnomAD-2.1.1 5.27E-05
31718 11 S/R 13 rs781462223 0.3605 None gnomAD-4.0.0 6.85142E-07
31719 12 R/K 14 None 0.7789 None gnomAD-4.0.0 1.5955E-06
31720 13 V/A 15 None 0.2367 None gnomAD-4.0.0 1.59454E-06
31720 13 V/E 15 rs1696965426 0.2367 None gnomAD-3.1.2 6.57E-06
31720 13 V/E 15 rs1696965426 0.2367 None gnomAD-4.0.0 6.57428E-06
31720 13 V/I 15 rs1575443877 0.2367 None gnomAD-4.0.0 1.59457E-06
31721 14 T/I 16 None 0.2199 None gnomAD-4.0.0 6.84617E-07
31723 16 E/K 18 rs1225039103 0.5397 None gnomAD-2.1.1 4.04E-06
31723 16 E/K 18 rs1225039103 0.5397 None gnomAD-4.0.0 1.59239E-06
31724 17 K/Q 19 rs1322640877 0.5252 None gnomAD-2.1.1 4.03E-06
31724 17 K/Q 19 rs1322640877 0.5252 None gnomAD-4.0.0 1.59222E-06
31725 18 C/G 20 None 0.0971 None gnomAD-4.0.0 6.84342E-07
31725 18 C/R 20 rs1295856798 0.0971 None gnomAD-3.1.2 6.57E-06
31725 18 C/R 20 rs1295856798 0.0971 None gnomAD-4.0.0 1.85936E-06
31726 19 T/A 21 rs761422470 0.2211 None gnomAD-2.1.1 4.03E-06
31726 19 T/A 21 rs761422470 0.2211 None gnomAD-4.0.0 2.73723E-06
31726 19 T/S 21 None 0.2211 None gnomAD-4.0.0 1.36861E-06
31727 20 L/S 22 None 0.1073 None gnomAD-4.0.0 2.40064E-06
31728 21 A/S 23 rs1360534996 0.2229 None gnomAD-3.1.2 6.57E-06
31728 21 A/S 23 rs1360534996 0.2229 None gnomAD-4.0.0 6.57004E-06
31728 21 A/T 23 None 0.2229 None gnomAD-4.0.0 3.18359E-06
31729 22 W/C 24 rs869320742 0.1234 HMERF
Literature None
31729 22 W/C 24 rs869320742 0.1234 None gnomAD-4.0.0 6.1583E-06
31729 22 W/L 24 rs786205367 0.1234 MFM
HMERF
Literature None
31729 22 W/R 24 rs869320741 0.1234 HMERF
Literature None
31730 23 S/C 25 rs1213250473 0.4033 None gnomAD-4.0.0 6.15831E-06
31730 23 S/G 25 rs1213250473 0.4033 None gnomAD-2.1.1 4.03E-06
31730 23 S/G 25 rs1213250473 0.4033 None gnomAD-4.0.0 6.84257E-07
31730 23 S/N 25 rs2555816 0.4033 None gnomAD-4.0.0 1.20032E-06
31731 24 L/I 26 rs1364685585 0.6679 None gnomAD-2.1.1 4.03E-06
31731 24 L/I 26 rs1364685585 0.6679 None gnomAD-4.0.0 1.59148E-06
31732 25 P/L 27 rs753334568 0.1753 None gnomAD-2.1.1 1.21E-05
31732 25 P/L 27 rs753334568 0.1753 None gnomAD-3.1.2 1.31E-05
31732 25 P/L 27 rs753334568 0.1753 CM
HMERF
Literature None
31732 25 P/L 27 rs753334568 0.1753 None gnomAD-4.0.0 9.29582E-06
31732 25 P/R 27 None 0.1753 None gnomAD-4.0.0 6.84245E-07
31735 28 D/H 30 None 0.3468 None gnomAD-4.0.0 1.36847E-06
31735 28 D/V 30 rs760640290 0.3468 None gnomAD-2.1.1 4.03E-06
31735 28 D/V 30 rs760640290 0.3468 None gnomAD-4.0.0 3.18276E-06
31736 29 G/A 31 rs1401862112 0.3369 None gnomAD-4.0.0 4.10542E-06
31736 29 G/E 31 rs1401862112 0.3369 None gnomAD-2.1.1 3.19E-05
31736 29 G/E 31 rs1401862112 0.3369 None gnomAD-3.1.2 6.57E-06
31736 29 G/E 31 rs1401862112 0.3369 None gnomAD-4.0.0 6.57065E-06
31736 29 G/R 31 rs771799061 0.3369 None gnomAD-2.1.1 8.06E-06
31736 29 G/R 31 rs771799061 0.3369 None gnomAD-3.1.2 6.57E-06
31736 29 G/R 31 rs771799061 0.3369 None gnomAD-4.0.0 8.6759E-06
31737 30 G/E 32 rs1696939367 0.5909 None gnomAD-3.1.2 6.57E-06
31737 30 G/E 32 rs1696939367 0.5909 None gnomAD-4.0.0 6.57099E-06
31739 32 E/D 34 None 0.8267 None gnomAD-4.0.0 6.84219E-07
31740 33 I/T 35 rs200781956 0.1827 None gnomAD-2.1.1 8.05E-06
31740 33 I/T 35 rs200781956 0.1827 None gnomAD-3.1.2 6.57E-06
31740 33 I/T 35 rs200781956 0.1827 None gnomAD-4.0.0 6.57186E-06
31740 33 I/V 35 None 0.1827 None gnomAD-4.0.0 1.20032E-06
31742 35 H/D 37 None 0.1984 None gnomAD-4.0.0 1.36845E-06
31742 35 H/Q 37 rs771123318 0.1984 None gnomAD-2.1.1 4.03E-06
31742 35 H/Q 37 rs771123318 0.1984 None gnomAD-3.1.2 6.57E-06
31742 35 H/Q 37 rs771123318 0.1984 None gnomAD-4.0.0 6.57099E-06
31742 35 H/R 37 rs774491202 0.1984 None gnomAD-2.1.1 4.03E-06
31742 35 H/R 37 rs774491202 0.1984 None gnomAD-3.1.2 6.57E-06
31742 35 H/R 37 rs774491202 0.1984 None gnomAD-4.0.0 6.5703E-06
31743 36 Y/H 38 None 0.1084 None gnomAD-4.0.0 2.40064E-06
31744 37 I/V 39 rs749403545 0.2210 None gnomAD-2.1.1 1.61E-05
31744 37 I/V 39 rs749403545 0.2210 None gnomAD-3.1.2 1.31E-05
31744 37 I/V 39 rs749403545 0.2210 None gnomAD-4.0.0 9.29536E-06
31745 38 V/G 40 rs886042114 0.0944 None gnomAD-3.1.2 6.57E-06
31745 38 V/G 40 rs886042114 0.0944 None gnomAD-4.0.0 6.57177E-06
31745 38 V/L 40 None 0.0944 None gnomAD-4.0.0 6.84225E-07
31745 38 V/M 40 rs377191543 0.0944 None gnomAD-2.1.1 3.57E-05
31745 38 V/M 40 rs377191543 0.0944 None gnomAD-3.1.2 2.63E-05
31745 38 V/M 40 rs377191543 0.0944 None gnomAD-4.0.0 1.79711E-05
31746 39 E/G 41 None 0.0913 None gnomAD-4.0.0 1.20032E-06
31747 40 R/I 42 None 0.3164 None gnomAD-4.0.0 2.40064E-06
31748 41 R/C 43 rs142525903 0.2061 None gnomAD-2.1.1 9.89512E-04
31748 41 R/C 43 rs142525903 0.2061 None gnomAD-3.1.2 7.42688E-04
31748 41 R/C 43 rs142525903 0.2061 None 1000 genomes 1.19808E-03
31748 41 R/C 43 rs142525903 0.2061 None gnomAD-4.0.0 5.91154E-04
31748 41 R/H 43 rs547575746 0.2061 None gnomAD-2.1.1 1.21E-05
31748 41 R/H 43 rs547575746 0.2061 None 1000 genomes None
31748 41 R/H 43 rs547575746 0.2061 None gnomAD-4.0.0 1.84739E-05
31748 41 R/L 43 None 0.2061 None gnomAD-4.0.0 6.84219E-07
31748 41 R/S 43 rs142525903 0.2061 None gnomAD-2.1.1 4.02E-06
31748 41 R/S 43 rs142525903 0.2061 None gnomAD-4.0.0 6.84216E-07
31749 42 E/A 44 None 0.2054 None gnomAD-4.0.0 1.20032E-06
31749 42 E/D 44 None 0.2054 None gnomAD-4.0.0 6.84213E-07
31749 42 E/K 44 rs139542862 0.2054 None gnomAD-2.1.1 8.57E-05
31749 42 E/K 44 rs139542862 0.2054 None gnomAD-3.1.2 1.24882E-04
31749 42 E/K 44 rs139542862 0.2054 None 1000 genomes 3.99361E-04
31749 42 E/K 44 rs139542862 0.2054 None gnomAD-4.0.0 6.07269E-05
31751 44 S/C 54 rs372132740 0.6208 None gnomAD-2.1.1 4.02E-06
31751 44 S/C 54 rs372132740 0.6208 None gnomAD-3.1.2 1.31E-05
31751 44 S/C 54 rs372132740 0.6208 None gnomAD-4.0.0 3.04475E-06
31751 44 S/G 54 rs372132740 0.6208 None gnomAD-2.1.1 4.02E-06
31751 44 S/R 54 rs753420295 0.6208 None gnomAD-2.1.1 4.02E-06
31751 44 S/R 54 rs753420295 0.6208 None gnomAD-4.0.0 8.8948E-06
31751 44 S/T 54 rs1223455292 0.6208 None gnomAD-2.1.1 4.02E-06
31754 47 N/T 64 None 0.8278 None gnomAD-4.0.0 1.59121E-06
31755 48 W/C 65 rs755654150 0.2207 None gnomAD-2.1.1 4.02E-06
31755 48 W/C 65 rs755654150 0.2207 None gnomAD-4.0.0 1.59124E-06
31757 50 I/T 67 rs72648259 0.5362 None gnomAD-2.1.1 3.89211E-04
31757 50 I/T 67 rs72648259 0.5362 None gnomAD-3.1.2 4.86311E-04
31757 50 I/T 67 rs72648259 0.5362 None 1000 genomes 3.99361E-04
31757 50 I/T 67 rs72648259 0.5362 None gnomAD-4.0.0 5.37846E-04
31757 50 I/V 67 None 0.5362 None gnomAD-4.0.0 1.20032E-06
31758 51 V/D 68 None 0.2175 None gnomAD-4.0.0 1.20032E-06
31759 52 E/A 69 rs767475236 0.2203 None gnomAD-2.1.1 4.02E-06
31759 52 E/A 69 rs767475236 0.2203 None gnomAD-4.0.0 1.59121E-06
31761 54 E/K 75 rs727505342 0.6965 None gnomAD-2.1.1 1.21E-05
31761 54 E/K 75 rs727505342 0.6965 None gnomAD-3.1.2 1.97E-05
31761 54 E/K 75 rs727505342 0.6965 None gnomAD-4.0.0 9.29459E-06
31763 56 P/L 83 None 0.6345 None gnomAD-4.0.0 2.40064E-06
31763 56 P/S 83 None 0.6345 None gnomAD-4.0.0 1.20032E-06
31764 57 T/N 88 rs1357116939 0.4407 None gnomAD-4.0.0 1.20032E-06
31764 57 T/S 88 rs1175551497 0.4407 None gnomAD-2.1.1 4.02E-06
31764 57 T/S 88 rs1175551497 0.4407 None gnomAD-4.0.0 1.36838E-06
31766 59 S/F 90 rs191484894 0.3388 None gnomAD-2.1.1 3.38793E-03
31766 59 S/F 90 rs191484894 0.3388 None gnomAD-3.1.2 1.77438E-03
31766 59 S/F 90 rs191484894 0.3388 None 1000 genomes 5.99042E-03
31766 59 S/F 90 rs191484894 0.3388 None gnomAD-4.0.0 2.17057E-03
31767 60 Y/C 91 rs1431446089 0.2447 None gnomAD-2.1.1 4.02E-06
31767 60 Y/C 91 rs1431446089 0.2447 None gnomAD-4.0.0 4.77354E-06
31768 61 V/F 92 None 0.4034 None gnomAD-4.0.0 1.36839E-06
31768 61 V/L 92 rs1696890603 0.4034 None gnomAD-4.0.0 1.36839E-06
31769 62 V/F 93 None 0.1136 None gnomAD-4.0.0 6.84196E-07
31769 62 V/I 93 rs374445709 0.1136 None gnomAD-2.1.1 4.64E-05
31769 62 V/I 93 rs374445709 0.1136 None gnomAD-3.1.2 5.26E-05
31769 62 V/I 93 rs374445709 0.1136 None gnomAD-4.0.0 1.73513E-05
31770 63 T/N 94 rs1250046145 0.4380 None gnomAD-2.1.1 4.02E-06
31770 63 T/N 94 rs1250046145 0.4380 None gnomAD-4.0.0 3.18231E-06
31771 64 R/K 96 rs397517760 0.8220 None gnomAD-2.1.1 8.04E-06
31771 64 R/K 96 rs397517760 0.8220 None gnomAD-3.1.2 1.97E-05
31771 64 R/K 96 rs397517760 0.8220 None gnomAD-4.0.0 1.9714E-05
31774 67 K/E 99 rs762265902 0.4740 None gnomAD-2.1.1 5.36E-05
31774 67 K/E 99 rs762265902 0.4740 None gnomAD-3.1.2 7.23E-05
31774 67 K/E 99 rs762265902 0.4740 None gnomAD-4.0.0 1.07814E-04
31776 69 N/S 102 rs1696881072 0.2485 None gnomAD-4.0.0 1.36838E-06
31777 70 E/A 103 rs955172279 0.2759 None gnomAD-3.1.2 1.97E-05
31777 70 E/A 103 rs955172279 0.2759 None gnomAD-4.0.0 7.68565E-06
31777 70 E/D 103 None 0.2759 None gnomAD-4.0.0 1.20033E-06
31777 70 E/K 103 rs1203504106 0.2759 None gnomAD-2.1.1 4.02E-06
31777 70 E/K 103 rs1203504106 0.2759 None gnomAD-3.1.2 6.57E-06
31777 70 E/K 103 rs1203504106 0.2759 None gnomAD-4.0.0 1.85901E-06
31778 71 Y/H 104 rs540043466 0.0992 None gnomAD-4.0.0 1.20032E-06
31778 71 Y/N 104 rs540043466 0.0992 None gnomAD-3.1.2 6.57E-06
31778 71 Y/N 104 rs540043466 0.0992 None gnomAD-4.0.0 6.57324E-06
31779 72 I/T 105 rs1460359915 0.1714 None gnomAD-2.1.1 1.07E-05
31779 72 I/T 105 rs1460359915 0.1714 None gnomAD-3.1.2 2.63E-05
31779 72 I/T 105 rs1460359915 0.1714 None gnomAD-4.0.0 1.4872E-05
31779 72 I/V 105 rs886039071 0.1714 None gnomAD-3.1.2 6.57E-06
31779 72 I/V 105 rs886039071 0.1714 None gnomAD-4.0.0 6.57091E-06
31780 73 F/C 106 rs1696875038 0.1168 None gnomAD-3.1.2 6.57E-06
31780 73 F/C 106 rs1696875038 0.1168 None gnomAD-4.0.0 6.57073E-06
31781 74 R/L 107 rs748984928 0.0955 None gnomAD-2.1.1 8.04E-06
31781 74 R/L 107 rs748984928 0.0955 None gnomAD-4.0.0 1.3684E-06
31781 74 R/P 107 rs748984928 0.0955 None gnomAD-3.1.2 6.57E-06
31781 74 R/P 107 rs748984928 0.0955 None gnomAD-4.0.0 6.57134E-06
31781 74 R/Q 107 None 0.0955 None gnomAD-2.1.1 1.61E-05
31781 74 R/Q 107 None 0.0955 None gnomAD-3.1.2 3.29E-05
31781 74 R/Q 107 None 0.0955 None gnomAD-4.0.0 1.36329E-05
31782 75 V/L 108 rs377076423 0.0874 None gnomAD-2.1.1 8.04E-06
31782 75 V/L 108 rs377076423 0.0874 None gnomAD-4.0.0 2.05259E-06
31782 75 V/M 108 rs377076423 0.0874 None gnomAD-2.1.1 1.07E-05
31782 75 V/M 108 rs377076423 0.0874 None gnomAD-3.1.2 1.97E-05
31782 75 V/M 108 rs377076423 0.0874 None gnomAD-4.0.0 3.09833E-06
31783 76 R/T 109 rs1696869417 0.1745 None gnomAD-3.1.2 6.57E-06
31783 76 R/T 109 rs1696869417 0.1745 None gnomAD-4.0.0 2.02984E-06
31784 77 A/T 110 None 0.0997 None gnomAD-4.0.0 1.20032E-06
31784 77 A/V 110 rs1553520967 0.0997 HMERF
Literature None
31785 78 V/I 111 rs755742174 0.1038 None gnomAD-2.1.1 4.02E-06
31785 78 V/I 111 rs755742174 0.1038 None gnomAD-4.0.0 8.21039E-06
31786 79 N/K 112 rs869320743 0.0988 HMERF
Literature None
31786 79 N/K 112 rs869320743 0.0988 None gnomAD-4.0.0 1.20033E-06
31786 79 N/S 112 rs1696865626 0.0988 None gnomAD-4.0.0 1.20032E-06
31787 80 K/N 113 rs1225133278 0.4462 None gnomAD-2.1.1 4.02E-06
31787 80 K/N 113 rs1225133278 0.4462 None gnomAD-4.0.0 2.0526E-06
31787 80 K/T 113 None 0.4462 None gnomAD-4.0.0 1.3684E-06
31788 81 Y/C 114 rs397517761 0.6007 None gnomAD-4.0.0 1.20032E-06
31788 81 Y/H 114 rs1696861248 0.6007 None gnomAD-3.1.2 1.31E-05
31788 81 Y/H 114 rs1696861248 0.6007 None gnomAD-4.0.0 1.31428E-05
31789 82 G/D 115 None 0.2450 None gnomAD-4.0.0 4.77377E-06
31789 82 G/R 115 rs1450258389 0.2450 None gnomAD-2.1.1 4.02E-06
31790 83 P/S 117 rs1235693684 0.5844 None gnomAD-2.1.1 3.18E-05
31790 83 P/S 117 rs1235693684 0.5844 None gnomAD-3.1.2 6.57E-06
31790 83 P/S 117 rs1235693684 0.5844 None gnomAD-4.0.0 2.56222E-06
31791 84 G/D 118 rs869320744 0.1405 MFM
HMERF
Literature None
31791 84 G/R 118 rs1696856005 0.1405 MFM
HMERF
Literature None
31791 84 G/V 118 None 0.1405 MFM
HMERF
Literature None
31792 85 V/A 119 None 0.4314 None gnomAD-4.0.0 6.84225E-07
31792 85 V/G 119 rs767359045 0.4314 None gnomAD-2.1.1 4.02E-06
31792 85 V/G 119 rs767359045 0.4314 None gnomAD-4.0.0 1.36845E-06
31792 85 V/M 119 rs994348588 0.4314 None gnomAD-2.1.1 8.05E-06
31792 85 V/M 119 rs994348588 0.4314 None gnomAD-3.1.2 1.31E-05
31792 85 V/M 119 rs994348588 0.4314 None gnomAD-4.0.0 5.57713E-06
31793 86 P/A 120 None 0.2959 None gnomAD-4.0.0 1.36846E-06
31793 86 P/L 120 rs1696849077 0.2959 None gnomAD-4.0.0 1.44039E-05
31793 86 P/T 120 rs1466581888 0.2959 None gnomAD-2.1.1 4.02E-06
31793 86 P/T 120 rs1466581888 0.2959 None gnomAD-4.0.0 3.42116E-06
31794 87 V/A 121 rs2154145428 0.1729 None gnomAD-4.0.0 3.18273E-06
31794 87 V/L 121 rs1346238621 0.1729 None gnomAD-2.1.1 3.18E-05
31795 88 E/Q 122 None 0.3400 None gnomAD-4.0.0 1.20032E-06
31795 88 E/V 122 rs1441773765 0.3400 None gnomAD-2.1.1 4.02E-06
31795 88 E/V 122 rs1441773765 0.3400 None gnomAD-4.0.0 1.59138E-06
31797 90 E/K 125 rs1381214987 0.7320 None gnomAD-4.0.0 6.84261E-07
31797 90 E/Q 125 rs1381214987 0.7320 None gnomAD-2.1.1 4.03E-06
31797 90 E/Q 125 rs1381214987 0.7320 None gnomAD-4.0.0 1.36852E-06
31797 90 E/V 125 rs1183343848 0.7320 None gnomAD-2.1.1 4.03E-06
31797 90 E/V 125 rs1183343848 0.7320 None gnomAD-4.0.0 4.7745E-06
31798 91 P/A 126 None 0.4191 None gnomAD-4.0.0 1.20032E-06
31799 92 I/T 127 rs1696841409 0.3000 None gnomAD-4.0.0 1.20032E-06
31799 92 I/V 127 rs370916420 0.3000 None gnomAD-2.1.1 6.44E-05
31799 92 I/V 127 rs370916420 0.3000 None gnomAD-3.1.2 4.6E-05
31799 92 I/V 127 rs370916420 0.3000 None gnomAD-4.0.0 6.01123E-05
31800 93 V/A 129 None 0.3211 None gnomAD-4.0.0 3.60097E-06
31800 93 V/I 129 rs766203953 0.3211 None gnomAD-2.1.1 4.03E-06
31800 93 V/I 129 rs766203953 0.3211 None gnomAD-4.0.0 3.184E-06
31803 96 N/T 132 rs2154145420 0.4490 None gnomAD-3.1.2 6.57E-06