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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
30619 1 T/I 1 rs1698630177 0.5134 None gnomAD-4.0.0 3.54985E-06
30619 1 T/K 1 None 0.5134 None gnomAD-4.0.0 1.77493E-06
30620 2 P/A 2 None 0.1412 None gnomAD-4.0.0 1.74574E-06
30620 2 P/S 2 None 0.1412 None gnomAD-4.0.0 1.74574E-06
30621 3 G/E 3 None 0.2535 None gnomAD-4.0.0 1.20032E-06
30622 4 K/E 4 rs756685124 0.3672 None gnomAD-4.0.0 4.95021E-06
30622 4 K/N 4 None 0.3672 None gnomAD-4.0.0 1.20032E-06
30623 5 V/A 5 rs1194784611 0.0960 None gnomAD-2.1.1 4.68E-06
30623 5 V/A 5 rs1194784611 0.0960 None gnomAD-3.1.2 6.57E-06
30623 5 V/A 5 rs1194784611 0.0960 None gnomAD-4.0.0 3.81962E-06
30624 6 V/A 6 rs886055231 0.3218 None gnomAD-4.0.0 2.81307E-06
30624 6 V/I 6 rs1474057900 0.3218 None gnomAD-3.1.2 6.57E-06
30624 6 V/I 6 rs1474057900 0.3218 None gnomAD-4.0.0 6.57151E-06
30625 7 G/R 7 None 0.5248 None gnomAD-4.0.0 1.69565E-06
30626 8 P/R 8 None 0.7902 None gnomAD-4.0.0 7.0044E-07
30626 8 P/S 8 rs888849578 0.7902 None gnomAD-2.1.1 4.56E-06
30626 8 P/S 8 rs888849578 0.7902 None gnomAD-4.0.0 1.69052E-06
30627 9 I/L 9 None 0.1377 None gnomAD-4.0.0 1.39944E-06
30627 9 I/T 9 rs747482573 0.1377 None gnomAD-2.1.1 8.78E-06
30627 9 I/T 9 rs747482573 0.1377 None gnomAD-4.0.0 3.34401E-06
30627 9 I/V 9 rs535151633 0.1377 None gnomAD-2.1.1 2.34E-05
30627 9 I/V 9 rs535151633 0.1377 None gnomAD-3.1.2 6.57E-06
30627 9 I/V 9 rs535151633 0.1377 None gnomAD-4.0.0 1.13827E-05
30628 10 R/I 11 rs780476250 0.4614 None gnomAD-2.1.1 4.38E-06
30628 10 R/I 11 rs780476250 0.4614 None gnomAD-4.0.0 1.39727E-06
30628 10 R/K 11 rs780476250 0.4614 None gnomAD-2.1.1 1.32E-05
30628 10 R/K 11 rs780476250 0.4614 None gnomAD-3.1.2 3.94E-05
30628 10 R/K 11 rs780476250 0.4614 None gnomAD-4.0.0 1.3892E-05
30628 10 R/S 11 rs144922355 0.4614 None gnomAD-2.1.1 1.65515E-03
30628 10 R/S 11 rs144922355 0.4614 None gnomAD-3.1.2 4.54109E-03
30628 10 R/S 11 rs144922355 0.4614 None 1000 genomes 3.99361E-03
30628 10 R/S 11 rs144922355 0.4614 None gnomAD-4.0.0 8.43089E-04
30629 11 F/L 12 rs1231209607 0.2704 None gnomAD-2.1.1 4.29E-06
30629 11 F/L 12 rs1231209607 0.2704 None gnomAD-4.0.0 6.96046E-06
30629 11 F/S 12 rs777327992 0.2704 None gnomAD-2.1.1 8.58E-06
30629 11 F/S 12 rs777327992 0.2704 None gnomAD-3.1.2 6.57E-06
30629 11 F/S 12 rs777327992 0.2704 None gnomAD-4.0.0 5.66355E-06
30630 12 T/A 13 None 0.3472 None gnomAD-4.0.0 1.20032E-06
30630 12 T/I 13 rs1305609938 0.3472 None gnomAD-2.1.1 4.24E-06
30630 12 T/I 13 rs1305609938 0.3472 None gnomAD-4.0.0 7.64067E-06
30631 13 N/I 14 None 0.5662 None gnomAD-4.0.0 1.38887E-06
30631 13 N/S 14 rs755738504 0.5662 None gnomAD-2.1.1 4.23E-05
30631 13 N/S 14 rs755738504 0.5662 None gnomAD-4.0.0 2.08331E-05
30632 14 I/S 15 rs1698611582 0.1712 None gnomAD-3.1.2 6.57E-06
30632 14 I/S 15 rs1698611582 0.1712 None gnomAD-4.0.0 6.57315E-06
30633 15 T/I 16 rs780636599 0.2105 None gnomAD-4.0.0 6.91676E-07
30633 15 T/N 16 None 0.2105 None gnomAD-4.0.0 6.91676E-07
30634 16 G/E 17 rs376628842 0.1259 None gnomAD-2.1.1 8.24E-06
30634 16 G/E 17 rs376628842 0.1259 None gnomAD-3.1.2 6.57E-06
30634 16 G/E 17 rs376628842 0.1259 None gnomAD-4.0.0 3.43771E-05
30637 19 M/K 20 rs1698605663 0.0716 None gnomAD-3.1.2 6.57E-06
30637 19 M/K 20 rs1698605663 0.0716 None gnomAD-4.0.0 6.57125E-06
30637 19 M/T 20 None 0.0716 None gnomAD-4.0.0 6.87869E-07
30637 19 M/V 20 rs751394805 0.0716 None gnomAD-2.1.1 4.06E-06
30637 19 M/V 20 rs751394805 0.0716 None gnomAD-4.0.0 4.81795E-06
30638 20 T/S 21 rs1180915423 0.1259 None gnomAD-2.1.1 3.19E-05
30638 20 T/S 21 rs1180915423 0.1259 None gnomAD-3.1.2 6.57E-06
30638 20 T/S 21 rs1180915423 0.1259 None gnomAD-4.0.0 6.5722E-06
30639 21 L/P 22 None 0.0850 Other
Literature None
30639 21 L/P 22 None 0.0850 None gnomAD-4.0.0 1.20032E-06
30639 21 L/V 22 rs373049260 0.0850 None gnomAD-2.1.1 4.04E-06
30639 21 L/V 22 rs373049260 0.0850 None gnomAD-3.1.2 1.31E-05
30639 21 L/V 22 rs373049260 0.0850 None gnomAD-4.0.0 3.10959E-06
30640 22 W/S 23 None 0.4928 None gnomAD-4.0.0 3.60097E-06
30643 25 A/D 26 None 0.3434 None gnomAD-4.0.0 1.37123E-06
30643 25 A/V 26 rs750203753 0.3434 None gnomAD-2.1.1 3.22E-05
30643 25 A/V 26 rs750203753 0.3434 None gnomAD-3.1.2 1.31E-05
30643 25 A/V 26 rs750203753 0.3434 None gnomAD-4.0.0 2.1728E-05
30645 27 L/F 28 rs1237954818 1.1170 None gnomAD-2.1.1 3.18E-05
30645 27 L/F 28 rs1237954818 1.1170 None gnomAD-3.1.2 1.31E-05
30645 27 L/F 28 rs1237954818 1.1170 None gnomAD-4.0.0 1.86164E-06
30645 27 L/I 28 None 1.1170 None gnomAD-4.0.0 3.42626E-06
30645 27 L/P 28 rs886038985 1.1170 None gnomAD-2.1.1 8.05E-06
30645 27 L/P 28 rs886038985 1.1170 None gnomAD-4.0.0 4.7899E-06
30646 28 N/H 29 rs786205328 0.6460 None gnomAD-4.0.0 1.37025E-06
30646 28 N/I 29 None 0.6460 None gnomAD-4.0.0 1.37013E-06
30646 28 N/S 29 rs72648245 0.6460 None gnomAD-2.1.1 7.21857E-04
30646 28 N/S 29 rs72648245 0.6460 None gnomAD-3.1.2 1.84E-03
30646 28 N/S 29 rs72648245 0.6460 None 1000 genomes 1.19808E-03
30646 28 N/S 29 rs72648245 0.6460 None gnomAD-4.0.0 4.11908E-04
30648 30 G/D 31 None 0.2565 None gnomAD-4.0.0 6.84795E-07
30648 30 G/S 31 rs776885297 0.2565 None gnomAD-2.1.1 4.43E-05
30648 30 G/S 31 rs776885297 0.2565 None gnomAD-3.1.2 6.57E-06
30648 30 G/S 31 rs776885297 0.2565 None gnomAD-4.0.0 1.67486E-05
30649 31 C/G 32 rs764207273 0.8395 None gnomAD-3.1.2 6.57E-06
30649 31 C/G 32 rs764207273 0.8395 None gnomAD-4.0.0 6.57108E-06
30649 31 C/R 32 rs764207273 0.8395 None gnomAD-2.1.1 8.04E-06
30649 31 C/R 32 rs764207273 0.8395 None gnomAD-4.0.0 1.36923E-06
30649 31 C/Y 32 rs1349466376 0.8395 None gnomAD-3.1.2 6.57E-06
30649 31 C/Y 32 rs1349466376 0.8395 None gnomAD-4.0.0 2.02988E-06
30651 33 P/L 34 None 0.6771 None gnomAD-4.0.0 1.20033E-06
30651 33 P/S 34 rs927540266 0.6771 None gnomAD-4.0.0 6.16099E-06
30653 35 T/I 36 None 0.4004 None gnomAD-4.0.0 1.5918E-06
30654 36 H/D 37 rs761280624 0.1945 None gnomAD-2.1.1 3.19E-05
30654 36 H/D 37 rs761280624 0.1945 None gnomAD-3.1.2 6.57E-06
30654 36 H/D 37 rs761280624 0.1945 None gnomAD-4.0.0 1.23952E-06
30654 36 H/N 37 rs761280624 0.1945 None gnomAD-2.1.1 1.21E-05
30654 36 H/N 37 rs761280624 0.1945 None gnomAD-3.1.2 1.31E-05
30654 36 H/N 37 rs761280624 0.1945 None gnomAD-4.0.0 4.9577E-06
30654 36 H/Y 37 None 0.1945 None gnomAD-4.0.0 6.84273E-07
30656 38 I/N 39 rs775922403 0.2287 None gnomAD-2.1.1 4.02E-06
30656 38 I/N 39 rs775922403 0.2287 None gnomAD-4.0.0 2.05272E-06
30656 38 I/S 39 None 0.2287 None gnomAD-4.0.0 1.16321E-05
30656 38 I/V 39 rs886043632 0.2287 None gnomAD-4.0.0 1.59144E-06
30657 39 I/M 40 rs888042945 0.0757 None gnomAD-2.1.1 4.02E-06
30657 39 I/M 40 rs888042945 0.0757 None gnomAD-4.0.0 2.73696E-06
30657 39 I/T 40 rs942083769 0.0757 None gnomAD-2.1.1 4.02E-06
30657 39 I/T 40 rs942083769 0.0757 None gnomAD-3.1.2 1.31E-05
30657 39 I/T 40 rs942083769 0.0757 None gnomAD-4.0.0 4.33805E-06
30657 39 I/V 40 rs940922600 0.0757 None gnomAD-2.1.1 4.02E-06
30657 39 I/V 40 rs940922600 0.0757 None gnomAD-3.1.2 6.57E-06
30657 39 I/V 40 rs940922600 0.0757 None gnomAD-4.0.0 2.56235E-06
30658 40 E/D 41 rs1240970665 0.1452 None gnomAD-2.1.1 4.02E-06
30658 40 E/D 41 rs1240970665 0.1452 None gnomAD-4.0.0 1.59142E-06
30660 42 R/Q 43 rs765986284 0.1760 None gnomAD-2.1.1 2.41E-05
30660 42 R/Q 43 rs765986284 0.1760 None gnomAD-4.0.0 1.16322E-05
30660 42 R/W 43 rs377464325 0.1760 None gnomAD-2.1.1 1.78E-05
30660 42 R/W 43 rs377464325 0.1760 None gnomAD-3.1.2 2.63E-05
30660 42 R/W 43 rs377464325 0.1760 None gnomAD-4.0.0 1.17752E-05
30662 44 T/N 50 rs2154148455 0.2952 None gnomAD-4.0.0 3.18293E-06
30662 44 T/P 50 None 0.2952 None gnomAD-4.0.0 2.40064E-06
30662 44 T/S 50 None 0.2952 None gnomAD-4.0.0 1.59146E-06
30663 45 S/R 54 rs1418513895 0.5794 None gnomAD-2.1.1 4.02E-06
30664 46 R/I 60 None 0.4700 None gnomAD-4.0.0 6.84242E-07
30664 46 R/S 60 None 0.4700 None gnomAD-4.0.0 1.59141E-06
30665 47 L/P 63 rs1412840625 1.0308 None gnomAD-3.1.2 6.57E-06
30665 47 L/P 63 rs1412840625 1.0308 None gnomAD-4.0.0 6.57177E-06
30666 48 A/T 64 None 0.5133 None gnomAD-4.0.0 1.20032E-06
30666 48 A/V 64 None 0.5133 None gnomAD-4.0.0 1.20032E-06
30668 50 A/T 66 None 0.3580 None gnomAD-4.0.0 1.59143E-06
30669 51 L/I 67 rs1469812071 0.5154 None gnomAD-3.1.2 6.57E-06
30669 51 L/I 67 rs1469812071 0.5154 None gnomAD-4.0.0 6.57307E-06
30670 52 I/M 68 None 0.1979 None gnomAD-4.0.0 1.08029E-05
30670 52 I/S 68 None 0.1979 None gnomAD-4.0.0 6.84238E-07
30670 52 I/T 68 rs369342933 0.1979 None gnomAD-2.1.1 2.46184E-04
30670 52 I/T 68 rs369342933 0.1979 None gnomAD-3.1.2 1.11741E-04
30670 52 I/T 68 rs369342933 0.1979 None 1000 genomes 3.99361E-04
30670 52 I/T 68 rs369342933 0.1979 None gnomAD-4.0.0 1.25175E-04
30671 53 E/D 69 None 0.1685 None gnomAD-4.0.0 6.84238E-07
30671 53 E/K 69 None 0.1685 None gnomAD-4.0.0 1.20032E-06
30672 54 D/G 70 None 0.4931 None gnomAD-4.0.0 1.20032E-06
30672 54 D/N 70 rs1025405753 0.4931 None gnomAD-3.1.2 6.57E-06
30672 54 D/N 70 rs1025405753 0.4931 None gnomAD-4.0.0 3.84379E-06
30673 55 K/E 75 None 0.6069 None gnomAD-4.0.0 1.20032E-06
30673 55 K/N 75 rs779897504 0.6069 None gnomAD-3.1.2 1.97E-05
30673 55 K/N 75 rs779897504 0.6069 None gnomAD-4.0.0 9.91552E-06
30674 56 C/R 77 rs758335817 0.0904 None gnomAD-2.1.1 7.14E-06
30674 56 C/R 77 rs758335817 0.0904 None gnomAD-3.1.2 6.57E-06
30674 56 C/R 77 rs758335817 0.0904 None gnomAD-4.0.0 3.84365E-06
30674 56 C/W 77 rs750208197 0.0904 None gnomAD-2.1.1 4.02E-06
30674 56 C/W 77 rs750208197 0.0904 None gnomAD-4.0.0 1.59137E-06
30674 56 C/Y 77 rs1193081606 0.0904 None gnomAD-2.1.1 4.02E-06
30674 56 C/Y 77 rs1193081606 0.0904 None gnomAD-4.0.0 1.20032E-06
30675 57 E/A 83 rs765085883 0.8576 None gnomAD-2.1.1 4.02E-06
30675 57 E/A 83 rs765085883 0.8576 None gnomAD-3.1.2 6.57E-06
30675 57 E/A 83 rs765085883 0.8576 None gnomAD-4.0.0 3.09843E-06
30675 57 E/K 83 None 0.8576 None gnomAD-4.0.0 1.59138E-06
30676 58 A/G 88 rs1237501659 0.3364 None gnomAD-3.1.2 1.97E-05
30676 58 A/G 88 rs1237501659 0.3364 None gnomAD-4.0.0 6.40595E-06
30676 58 A/T 88 None 0.3364 None gnomAD-4.0.0 2.40064E-06
30678 60 S/N 90 None 0.1827 None gnomAD-4.0.0 1.59134E-06
30680 62 T/I 92 None 0.3030 None gnomAD-4.0.0 1.59131E-06
30680 62 T/N 92 rs2154148406 0.3030 None gnomAD-4.0.0 3.18262E-06
30680 62 T/P 92 rs1206813558 0.3030 None gnomAD-2.1.1 4.02E-06
30680 62 T/P 92 rs1206813558 0.3030 None gnomAD-4.0.0 1.59132E-06
30681 63 A/D 93 rs201400267 0.1007 None gnomAD-2.1.1 1.78447E-04
30681 63 A/D 93 rs201400267 0.1007 None gnomAD-3.1.2 2.43152E-04
30681 63 A/D 93 rs201400267 0.1007 None gnomAD-4.0.0 4.21395E-04
30686 68 N/I 99 None 0.6418 None gnomAD-4.0.0 1.20032E-06
30687 69 G/D 100 rs767929728 0.3582 None gnomAD-2.1.1 1.43E-05
30687 69 G/D 100 rs767929728 0.3582 None gnomAD-3.1.2 1.31E-05
30687 69 G/D 100 rs767929728 0.3582 None gnomAD-4.0.0 7.68679E-06
30687 69 G/S 100 rs375190050 0.3582 None gnomAD-2.1.1 1.79E-05
30687 69 G/S 100 rs375190050 0.3582 None gnomAD-3.1.2 2.63E-05
30687 69 G/S 100 rs375190050 0.3582 None gnomAD-4.0.0 2.97465E-05
30688 70 N/K 102 None 0.2907 None gnomAD-4.0.0 1.5913E-06
30688 70 N/S 102 rs371488671 0.2907 None gnomAD-2.1.1 4.02E-06
30688 70 N/S 102 rs371488671 0.2907 None gnomAD-3.1.2 1.97E-05
30688 70 N/S 102 rs371488671 0.2907 None gnomAD-4.0.0 1.97099E-05
30689 71 E/Q 103 None 0.2925 None gnomAD-4.0.0 1.36843E-06
30690 72 Y/H 104 None 0.0888 None gnomAD-4.0.0 1.59131E-06
30691 73 Q/E 105 rs573510674 0.1747 None gnomAD-2.1.1 1.21E-05
30691 73 Q/E 105 rs573510674 0.1747 None gnomAD-3.1.2 1.31E-05
30691 73 Q/E 105 rs573510674 0.1747 None 1000 genomes 1.99681E-04
30691 73 Q/E 105 rs573510674 0.1747 None gnomAD-4.0.0 3.71798E-06
30691 73 Q/R 105 rs369434118 0.1747 None gnomAD-2.1.1 4.02E-06
30691 73 Q/R 105 rs369434118 0.1747 None gnomAD-3.1.2 6.57E-06
30691 73 Q/R 105 rs369434118 0.1747 None gnomAD-4.0.0 6.56987E-06
30692 74 F/L 106 None 0.1039 None gnomAD-4.0.0 1.59136E-06
30693 75 R/C 107 rs375375389 0.1928 None gnomAD-2.1.1 8.05E-06
30693 75 R/C 107 rs375375389 0.1928 None gnomAD-4.0.0 2.0527E-06
30693 75 R/H 107 rs776331056 0.1928 None gnomAD-2.1.1 8.05E-06
30693 75 R/H 107 rs776331056 0.1928 None gnomAD-3.1.2 6.57E-06
30693 75 R/H 107 rs776331056 0.1928 None gnomAD-4.0.0 1.23939E-05
30694 76 V/I 108 rs1301174075 0.0940 None gnomAD-2.1.1 3.18E-05
30695 77 S/P 109 rs768267695 0.1282 None gnomAD-2.1.1 4.03E-06
30695 77 S/P 109 rs768267695 0.1282 None gnomAD-4.0.0 1.59134E-06
30696 78 A/V 110 None 0.1022 None gnomAD-4.0.0 2.05268E-06
30699 81 K/E 113 rs1248700593 0.4662 None gnomAD-3.1.2 6.57E-06
30699 81 K/E 113 rs1248700593 0.4662 None gnomAD-4.0.0 6.19682E-06
30700 82 F/S 114 rs746552047 0.5772 None gnomAD-2.1.1 4.04E-06
30700 82 F/S 114 rs746552047 0.5772 None gnomAD-4.0.0 6.36551E-06
30701 83 G/A 115 rs2154148355 0.2153 None gnomAD-4.0.0 1.59146E-06
30703 85 G/R 118 rs1418904114 0.1614 None gnomAD-2.1.1 4.04E-06
30703 85 G/R 118 rs1418904114 0.1614 None gnomAD-4.0.0 1.59157E-06
30704 86 R/G 119 rs1170214077 0.8512 None gnomAD-2.1.1 4.04E-06
30704 86 R/G 119 rs1170214077 0.8512 None gnomAD-4.0.0 6.84263E-07
30704 86 R/W 119 None 0.8512 None gnomAD-4.0.0 2.73705E-06
30706 88 L/R 121 rs779567470 0.1291 None gnomAD-2.1.1 4.05E-06
30707 89 D/A 122 rs778868795 0.4223 None gnomAD-2.1.1 8.09E-06
30707 89 D/A 122 rs778868795 0.4223 None gnomAD-3.1.2 1.97E-05
30707 89 D/A 122 rs778868795 0.4223 None gnomAD-4.0.0 2.23126E-05
30707 89 D/G 122 rs778868795 0.4223 None gnomAD-2.1.1 4.05E-06
30707 89 D/G 122 rs778868795 0.4223 None gnomAD-4.0.0 6.84361E-07
30707 89 D/N 122 rs758300381 0.4223 None gnomAD-2.1.1 1.08E-05
30707 89 D/N 122 rs758300381 0.4223 None gnomAD-3.1.2 6.57E-06
30707 89 D/N 122 rs758300381 0.4223 None gnomAD-4.0.0 3.84449E-06
30709 91 D/A 125 rs757178111 0.8591 None gnomAD-2.1.1 4.05E-06
30709 91 D/A 125 rs757178111 0.8591 None gnomAD-4.0.0 1.59256E-06
30709 91 D/E 125 None 0.8591 None gnomAD-4.0.0 1.20032E-06
30710 92 P/T 126 rs2154148331 0.4055 None gnomAD-4.0.0 3.18571E-06
30711 93 V/A 127 None 0.1518 None gnomAD-4.0.0 6.00161E-06
30711 93 V/L 127 rs747122 0.1518 None gnomAD-2.1.1 8.1E-06
30711 93 V/L 127 rs747122 0.1518 None gnomAD-4.0.0 4.79238E-06
30711 93 V/M 127 rs747122 0.1518 None gnomAD-2.1.1 9.35053E-02
30711 93 V/M 127 rs747122 0.1518 None gnomAD-3.1.2 1.14218E-01
30711 93 V/M 127 rs747122 0.1518 None 1000 genomes 1.5016E-01
30711 93 V/M 127 rs747122 0.1518 None gnomAD-4.0.0 5.89209E-02
30713 95 A/P 130 rs367807708 0.0712 None gnomAD-2.1.1 1.08E-05
30713 95 A/P 130 rs367807708 0.0712 None gnomAD-3.1.2 3.94E-05
30713 95 A/P 130 rs367807708 0.0712 None gnomAD-4.0.0 4.9619E-06
30713 95 A/S 130 None 0.0712 None gnomAD-4.0.0 6.84898E-07
30713 95 A/T 130 None 0.0712 None gnomAD-4.0.0 1.3698E-06
30713 95 A/V 130 None 0.0712 None gnomAD-4.0.0 8.40225E-06
30715 97 I/M 132 rs767562959 0.8282 None gnomAD-2.1.1 1.8E-05
30715 97 I/M 132 rs767562959 0.8282 None gnomAD-3.1.2 1.31E-05
30715 97 I/M 132 rs767562959 0.8282 None gnomAD-4.0.0 4.34188E-06
30715 97 I/T 132 None 0.8282 None gnomAD-4.0.0 1.59504E-06