PDB ID | 2AV1
|
CHAIN | A |
---|---|---|---|
Protein name | HLA class I histocompatibility antigen, A-2 alpha chain | ||
Uniprot Accession | P01892 | ||
The number of similar proteins | 473 | ||
The number of binding states | 14 | ||
The number of binding partners | 10 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2AV1 (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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13 |
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14 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
2_SER | PRO |
8.3kJPN chr6:29910536 rs281864722 |
- | 0.0001 | - | - | |
3_HIS | GLN |
gnomAD chr6:29910541 rs41541319 |
- | 0.000156842 | - | - | |
3_HIS | GLN |
8.3kJPN chr6:29910541 rs41541319 |
- | 0.0082 | - | - | |
4_SER | PHE |
gnomAD chr6:31324725 rs41555216 |
- | 0.00079597 | - | - | |
6_ARG | LYS |
gnomAD chr6:29910549 rs45585732 |
- | 0.000156574 | - | - | |
6_ARG | LYS |
gnomAD chr6:31239630 rs1131151 |
- | 0.0477919 | - | - | |
6_ARG | LYS |
8.3kJPN chr6:31239630 rs1131151 |
- | 0.16 | - | - | |
7_TYR | CYS |
gnomAD chr6:29910552 rs41542421 |
- | 0.000714245 | - | - | |
7_TYR | CYS |
8.3kJPN chr6:29910552 rs41542421 |
- | 0.0001 | - | - | |
7_TYR | HIS |
8.3kJPN chr6:31324717 rs41555918 |
- | 0.0001 | - | - | |
9_PHE | ILE |
gnomAD chr6:29910557 rs1136659 |
- | 0.0871716 | - | - | |
9_PHE | TYR |
gnomAD chr6:29910558 rs2075684 |
- | 0.202516 | - | - | |
9_PHE | SER |
gnomAD chr6:29910558 rs2075684 |
- | 0.282765 | - | - | |
9_ASP | VAL |
gnomAD chr6:31239621 rs1071650 |
- | 0.0543026 | - | - | |
9_ASP | ALA |
gnomAD chr6:31239621 rs1071650 |
- | 0.0545669 | - | - | |
9_ASP | TYR |
gnomAD chr6:31239622 rs9264668 |
- | 0.634353 | - | - | |
9_ASP | HIS |
gnomAD chr6:31239622 rs9264668 |
- | 0.000887891 | - | - | |
9_TYR | ASP |
gnomAD chr6:31324711 rs2596492 |
- | 0.0548607 | - | - | |
9_TYR | HIS |
gnomAD chr6:31324711 rs2596492 |
- | 0.165213 | - | - | |
9_PHE | ILE |
8.3kJPN chr6:29910557 rs1136659 |
- | 0.1448 | - | - | |
9_PHE | TYR |
8.3kJPN chr6:29910558 rs2075684 |
- | - | - | - | |
9_ASP | VAL |
8.3kJPN chr6:31239621 rs1071650 |
- | - | - | - | |
9_ASP | TYR |
8.3kJPN chr6:31239622 rs9264668 |
- | 0.8515 | - | - | |
9_TYR | HIS |
8.3kJPN chr6:31324711 rs2596492 |
- | 0.2091 | - | - | |
10_ALA | THR |
8.3kJPN chr6:29795850 rs201957061 |
- | 0.0009 | - | - | |
11_ALA | SER |
gnomAD chr6:31239616 rs1050445 |
- | 0.105794 | - | - | |
11_SER | ALA |
gnomAD chr6:31324705 rs1131170 |
- | 0.625682 | - | - | |
11_ALA | SER |
8.3kJPN chr6:31239616 rs1050445 |
- | 0.3272 | - | - | |
11_SER | ALA |
8.3kJPN chr6:31324705 rs1131170 |
- | 0.7008 | - | - | |
12_VAL | MET |
gnomAD chr6:29910566 rs41545116 |
- | 0.00929656 | - | - | |
12_VAL | MET |
gnomAD chr6:31239613 rs2308538 |
- | 0.0401794 | - | - | |
12_VAL | MET |
gnomAD chr6:31324702 rs1050486 |
- | 0.551795 | - | - | |
12_VAL | MET |
8.3kJPN chr6:31239613 rs2308538 |
- | 0.0372 | - | - | |
12_VAL | MET |
8.3kJPN chr6:31324702 rs1050486 |
- | 0.7008 | - | - | |
13_SER | CYS |
8.3kJPN chr6:29795860 - |
- | 0.0001 | - | - | |
14_ARG | TRP |
gnomAD chr6:31239607 rs41542423 |
- | 0.0534837 | - | - | |
14_ARG | TRP |
8.3kJPN chr6:29910572 rs45569434 |
- | 0.0023 | - | - | |
14_ARG | TRP |
8.3kJPN chr6:31239607 rs41542423 |
- | 0.0435 | - | - | |
16_GLY | SER |
gnomAD chr6:31239601 rs151341100 |
- | 0.0425341 | - | - | |
16_GLY | SER |
8.3kJPN chr6:31239601 rs151341100 |
- | 0.0004 | - | - | |
17_ARG | SER |
gnomAD chr6:29910581 rs1059423 |
- | 0.040482 | - | - | |
17_ARG | SER |
8.3kJPN chr6:29910581 rs1059423 |
- | 0.1442 | - | - | |
17_ARG | SER |
8.3kJPN chr6:31239598 rs41555420 |
- | 0.0026 | - | - | |
18_GLY | GLU |
8.3kJPN chr6:29910585 rs41560112 |
- | 0.0002 | - | - | |
19_GLU | LYS |
gnomAD chr6:29910587 rs41549014 |
- | 0.0026283 | - | - | |
19_GLU | LYS |
8.3kJPN chr6:29910587 rs41549014 |
- | 0.0011 | - | - | |
21_ARG | HIS |
gnomAD chr6:29910594 rs199474366 |
- | 0.000583832 | - | - | |
21_ARG | HIS |
gnomAD chr6:31239585 rs1050437 |
- | 0.221971 | - | - | |
21_ARG | HIS |
8.3kJPN chr6:29910594 rs199474366 |
- | 0.0005 | - | - | |
21_ARG | HIS |
8.3kJPN chr6:31239585 rs1050437 |
- | 0.3777 | - | - | |
21_ARG | GLY |
8.3kJPN chr6:31324675 rs45509993 |
- | 0.0001 | - | - | |
23_ILE | SER |
8.3kJPN chr6:29910600 rs199474369 |
- | 0.0073 | - | - | |
24_ALA | THR |
gnomAD chr6:29910602 rs41552219 |
- | 0.000208652 | - | - | |
24_ALA | SER |
gnomAD chr6:29910602 rs41552219 |
- | 0.00114324 | - | - | |
24_SER | ALA |
gnomAD chr6:31239577 rs707911 |
- | 0.593197 | - | - | |
24_SER | ALA |
gnomAD chr6:31324666 rs713031 |
- | 0.442071 | - | - | |
24_SER | THR |
gnomAD chr6:31324666 rs713031 |
- | 0.14398 | - | - | |
24_ALA | SER |
8.3kJPN chr6:29910602 rs41552219 |
- | 0.0008 | - | - | |
24_SER | ALA |
8.3kJPN chr6:31239577 rs707911 |
- | 0.7006 | - | - | |
24_SER | THR |
8.3kJPN chr6:31324666 rs713031 |
- | - | - | - | |
27_TYR | HIS |
gnomAD chr6:29795901 rs76333131 |
- | 0.000125737 | - | - | |
30_ASP | GLY |
gnomAD chr6:31324647 rs9266183 |
- | 0.0360396 | - | - | |
30_ASP | GLY |
8.3kJPN chr6:31324647 rs9266183 |
- | 0.0001 | - | - | |
31_THR | SER |
gnomAD chr6:29795913 rs41551813 |
- | 0.0456624 | - | - | |
31_THR | MET |
gnomAD chr6:29795914 rs72558173 |
- | 0.000254941 | - | - | |
31_THR | SER |
gnomAD chr6:29910623 rs1059438 |
- | 0.00072653 | - | - | |
31_THR | SER |
8.3kJPN chr6:29795913 rs41551813 |
- | 0.0096 | - | - | |
32_GLN | LEU |
gnomAD chr6:31324641 rs1050518 |
- | 0.130051 | - | - | |
32_GLN | LEU |
8.3kJPN chr6:31324641 rs1050518 |
- | 0.2694 | - | - | |
35_ARG | GLN |
gnomAD chr6:29910636 rs1059441 |
- | 0.000730416 | - | - | |
35_ARG | GLN |
gnomAD chr6:31239543 rs1050428 |
- | 0.102593 | - | - | |
35_ARG | GLN |
8.3kJPN chr6:31239543 rs1050428 |
- | 0.0952 | - | - | |
38_SER | ASN |
8.3kJPN chr6:31324623 rs151341116 |
- | 0.0001 | - | - | |
41_ALA | THR |
gnomAD chr6:31324615 rs1050529 |
- | 0.112988 | - | - | |
41_ALA | THR |
8.3kJPN chr6:31324615 rs1050529 |
- | 0.2786 | - | - | |
43_GLN | ARG |
gnomAD chr6:29910660 rs41559117 |
- | 0.0132776 | - | - | |
44_ARG | LYS |
gnomAD chr6:29910663 rs707910 |
- | 0.115033 | - | - | |
44_ARG | LYS |
8.3kJPN chr6:29910663 rs707910 |
- | 0.0042 | - | - | |
45_GLU | GLY |
gnomAD chr6:31324602 rs41562914 |
- | 0.00593064 | - | - | |
45_GLU | LYS |
gnomAD chr6:31324603 rs9266178 |
- | 0.136485 | - | - | |
45_GLU | GLY |
8.3kJPN chr6:31324602 rs41562914 |
- | 0.1096 | - | - | |
45_GLU | LYS |
8.3kJPN chr6:31324603 rs9266178 |
- | 0.2668 | - | - | |
46_GLU | ALA |
gnomAD chr6:31324599 rs1050538 |
- | 0.0123726 | - | - | |
46_GLU | ALA |
8.3kJPN chr6:31239510 rs281860371 |
- | 0.0147 | - | - | |
46_GLU | ALA |
8.3kJPN chr6:31324599 rs1050538 |
- | 0.1609 | - | - | |
49_ALA | GLU |
gnomAD chr6:31239501 rs1050409 |
- | 0.130166 | - | - | |
49_ALA | GLU |
gnomAD chr6:31324590 rs151341132 |
- | 0.000247822 | - | - | |
49_ALA | GLU |
8.3kJPN chr6:31239501 rs1050409 |
- | 0.044 | - | - | |
50_PRO | LEU |
gnomAD chr6:29910681 rs41555915 |
- | 0.000175572 | - | - | |
52_ILE | MET |
gnomAD chr6:31324580 rs143961508 |
- | 0.0042534 | - | - | |
52_ILE | VAL |
gnomAD chr6:31324582 rs145974360 |
- | 0.00434316 | - | - | |
52_ILE | MET |
8.3kJPN chr6:29910688 rs41544012 |
- | 0.1237 | - | - | |
52_VAL | MET |
8.3kJPN chr6:31239493 rs1065382 |
- | 0.0181 | - | - | |
52_ILE | MET |
8.3kJPN chr6:31324580 rs143961508 |
- | 0.0666 | - | - | |
52_ILE | VAL |
8.3kJPN chr6:31324582 rs145974360 |
- | 0.0666 | - | - | |
54_GLN | ARG |
8.3kJPN chr6:29910693 rs41559716 |
- | 0.001 | - | - | |
55_GLU | GLN |
8.3kJPN chr6:29795985 - |
- | 0.0001 | - | - | |
56_GLY | ARG |
gnomAD chr6:29910698 rs1059449 |
- | 0.0611156 | - | - | |
56_GLY | ARG |
8.3kJPN chr6:29910698 rs1059449 |
- | 0.0913 | - | - | |
56_GLY | GLU |
8.3kJPN chr6:29910699 rs1059451 |
- | 0.1225 | - | - | |
57_PRO | LEU |
8.3kJPN chr6:29795992 - |
- | 0.0001 | - | - | |
59_TYR | HIS |
gnomAD chr6:31324561 rs41556614 |
- | 0.000291658 | - | - | |
62_GLN | GLU |
gnomAD chr6:29910716 rs1059455 |
- | 0.388616 | - | - | |
62_GLN | ARG |
gnomAD chr6:29910717 rs1064588 |
- | 0.432793 | - | - | |
62_GLN | LEU |
gnomAD chr6:29910717 rs1064588 |
- | 0.0278265 | - | - | |
62_ARG | GLY |
gnomAD chr6:31324552 rs141484466 |
- | 0.0157472 | - | - | |
62_GLU | GLN |
8.3kJPN chr6:29796006 - |
- | 0.0001 | - | - | |
62_GLN | LYS |
8.3kJPN chr6:29910716 rs1059455 |
- | - | - | - | |
62_GLN | LEU |
8.3kJPN chr6:29910717 rs1064588 |
- | - | - | - | |
62_ARG | GLY |
8.3kJPN chr6:31324552 rs141484466 |
- | 0.0045 | - | - | |
63_GLU | LYS |
gnomAD chr6:29910719 rs2230991 |
- | 0.158893 | - | - | |
63_GLU | GLN |
gnomAD chr6:29910719 rs2230991 |
- | 0.0314116 | - | - | |
63_GLU | ASP |
gnomAD chr6:29910721 rs199474424 |
- | 0.1544 | - | - | |
63_ASN | LYS |
gnomAD chr6:31324547 rs1065386 |
- | 0.339459 | - | - | |
63_ASN | ASP |
gnomAD chr6:31324549 rs1050570 |
- | 0.338262 | - | - | |
63_GLU | LYS |
8.3kJPN chr6:29910719 rs2230991 |
- | - | - | - | |
63_ASN | LYS |
8.3kJPN chr6:31324547 rs1065386 |
- | 0.5695 | - | - | |
63_ASN | ASP |
8.3kJPN chr6:31324549 rs1050570 |
- | 0.5695 | - | - | |
64_THR | ILE |
8.3kJPN chr6:31324545 rs151341182 |
- | 0.0002 | - | - | |
65_ARG | GLY |
gnomAD chr6:29910725 rs199474430 |
- | 0.137476 | - | - | |
65_GLN | ARG |
gnomAD chr6:31324542 rs1131201 |
- | 0.0213404 | - | - | |
65_ARG | GLY |
8.3kJPN chr6:29910725 rs199474430 |
- | 0.3546 | - | - | |
65_GLN | ARG |
8.3kJPN chr6:31324542 rs1131201 |
- | 0.0045 | - | - | |
66_ASN | LYS |
gnomAD chr6:29910730 rs199474436 |
- | 0.42063 | - | - | |
66_LYS | ASN |
gnomAD chr6:31239449 rs28626310 |
- | 0.158242 | - | - | |
66_ILE | MET |
gnomAD chr6:31324538 rs707909 |
- | 0.00214365 | - | - | |
66_ILE | ASN |
gnomAD chr6:31324539 rs1131202 |
- | 0.00184317 | - | - | |
66_ASN | LYS |
8.3kJPN chr6:29910730 rs199474436 |
- | 0.6026 | - | - | |
66_LYS | ASN |
8.3kJPN chr6:31239449 rs28626310 |
- | 0.0296 | - | - | |
66_ILE | MET |
8.3kJPN chr6:31324538 rs707909 |
- | 0.0424 | - | - | |
66_ILE | ASN |
8.3kJPN chr6:31324539 rs1131202 |
- | 0.0424 | - | - | |
67_VAL | MET |
gnomAD chr6:29910731 rs79361534 |
- | 0.129349 | - | - | |
67_VAL | LEU |
gnomAD chr6:29910731 rs79361534 |
- | 0.00396879 | - | - | |
67_TYR | PHE |
gnomAD chr6:31324536 rs1071816 |
- | 0.303213 | - | - | |
67_TYR | CYS |
gnomAD chr6:31324536 rs1071816 |
- | 0.162404 | - | - | |
67_TYR | SER |
gnomAD chr6:31324536 rs1071816 |
- | 0.337681 | - | - | |
67_VAL | MET |
8.3kJPN chr6:29910731 rs79361534 |
- | - | - | - | |
67_TYR | PHE |
8.3kJPN chr6:31324536 rs1071816 |
- | - | - | - | |
68_LYS | TER |
8.3kJPN chr6:31239445 rs281860401 |
- | - | - | - | |
69_ALA | GLY |
gnomAD chr6:29910738 rs771934696 |
- | 0.000108274 | - | - | |
69_ALA | GLY |
gnomAD chr6:31324530 rs41546313 |
- | 0.00255986 | - | - | |
69_ALA | PRO |
gnomAD chr6:31324531 rs1131204 |
- | 0.00270907 | - | - | |
69_ALA | THR |
gnomAD chr6:31324531 rs1131204 |
- | 0.765868 | - | - | |
69_ALA | THR |
8.3kJPN chr6:29910737 rs199474443 |
- | 0.1112 | - | - | |
69_ALA | GLY |
8.3kJPN chr6:31324530 rs41546313 |
- | 0.0429 | - | - | |
69_ALA | THR |
8.3kJPN chr6:31324531 rs1131204 |
- | - | - | - | |
70_GLN | HIS |
gnomAD chr6:29910742 rs78306866 |
- | 0.701262 | - | - | |
70_GLN | HIS |
gnomAD chr6:31324526 rs1131212 |
- | 0.000124651 | - | - | |
70_GLN | LYS |
gnomAD chr6:31324528 rs1071817 |
- | 0.0369175 | - | - | |
70_GLN | LYS |
8.3kJPN chr6:29910740 rs554470055 |
- | 0.1112 | - | - | |
70_GLN | HIS |
8.3kJPN chr6:29910742 rs78306866 |
- | 0.9055 | - | - | |
70_GLN | LYS |
8.3kJPN chr6:31324528 rs1071817 |
- | 0.0021 | - | - | |
71_ALA | SER |
gnomAD chr6:31324525 rs1131213 |
- | 0.000103475 | - | - | |
71_SER | ALA |
8.3kJPN chr6:29910743 rs1059467 |
- | 0.1111 | - | - | |
73_THR | ILE |
gnomAD chr6:29910750 rs199474457 |
- | 0.0766774 | - | - | |
73_ALA | THR |
gnomAD chr6:31239430 rs41543814 |
- | 0.435813 | - | - | |
73_THR | ILE |
8.3kJPN chr6:29910750 rs199474457 |
- | 0.1665 | - | - | |
73_ALA | THR |
8.3kJPN chr6:31239430 rs41543814 |
- | 0.706 | - | - | |
74_ASP | ASN |
gnomAD chr6:29910752 rs1136683 |
- | 0.000685146 | - | - | |
74_ASP | HIS |
gnomAD chr6:29910752 rs1136683 |
- | 0.268445 | - | - | |
74_ASP | TYR |
gnomAD chr6:31324516 rs1131215 |
- | 0.612512 | - | - | |
74_ASP | HIS |
8.3kJPN chr6:29910752 rs1136683 |
- | 0.2766 | - | - | |
74_ASP | TYR |
8.3kJPN chr6:31324516 rs1131215 |
- | 0.7381 | - | - | |
75_ARG | GLN |
8.3kJPN chr6:31324512 rs41540114 |
- | 0.0001 | - | - | |
76_VAL | GLU |
gnomAD chr6:29910759 rs1071742 |
- | 0.18235 | - | - | |
76_VAL | ALA |
gnomAD chr6:29910759 rs1071742 |
- | 0.192041 | - | - | |
76_GLU | VAL |
gnomAD chr6:31324509 rs41553715 |
- | 0.0132597 | - | - | |
76_VAL | GLU |
8.3kJPN chr6:29910759 rs1071742 |
- | - | - | - | |
76_GLU | VAL |
8.3kJPN chr6:31324509 rs41553715 |
- | 0.045 | - | - | |
77_ASP | ASN |
gnomAD chr6:29910761 rs1136688 |
- | 0.372732 | - | - | |
77_ASP | GLY |
gnomAD chr6:29910762 rs2231004 |
- | 0.0421655 | - | - | |
77_SER | ASN |
gnomAD chr6:31239417 rs2308557 |
- | 0.373341 | - | - | |
77_SER | ASN |
gnomAD chr6:31324506 rs1050388 |
- | 0.180337 | - | - | |
77_SER | GLY |
gnomAD chr6:31324507 rs1131217 |
- | 0.035613 | - | - | |
77_ASP | ASN |
8.3kJPN chr6:29910761 rs1136688 |
- | 0.4635 | - | - | |
77_ASP | GLY |
8.3kJPN chr6:29910762 rs2231004 |
- | 0.0001 | - | - | |
77_SER | ASN |
8.3kJPN chr6:31239417 rs2308557 |
- | 0.0865 | - | - | |
77_SER | ASN |
8.3kJPN chr6:31324506 rs1050388 |
- | 0.301 | - | - | |
77_SER | GLY |
8.3kJPN chr6:31324507 rs1131217 |
- | 0.0068 | - | - | |
79_GLY | ARG |
gnomAD chr6:29910767 rs1136689 |
- | 0.16156 | - | - | |
79_GLY | ALA |
gnomAD chr6:29910768 rs41552317 |
- | 0.000137671 | - | - | |
79_ARG | GLY |
gnomAD chr6:31324501 rs72558110 |
- | 0.000105758 | - | - | |
79_GLY | ARG |
8.3kJPN chr6:29910767 rs1136689 |
- | 0.42 | - | - | |
79_ARG | TRP |
8.3kJPN chr6:31324501 rs72558110 |
- | 0.0001 | - | - | |
80_THR | ILE |
gnomAD chr6:29910771 rs1136690 |
- | 0.000182163 | - | - | |
80_ASN | LYS |
gnomAD chr6:31239407 rs17408553 |
- | 0.373269 | - | - | |
80_ASN | LYS |
gnomAD chr6:31324496 rs2308559 |
- | 0.00202455 | - | - | |
80_ASN | THR |
gnomAD chr6:31324497 rs1131223 |
- | 0.0468304 | - | - | |
80_ASN | LYS |
8.3kJPN chr6:31239407 rs17408553 |
- | 0.0867 | - | - | |
80_ASN | THR |
8.3kJPN chr6:31324497 rs1131223 |
- | 0.0085 | - | - | |
82_ARG | LEU |
gnomAD chr6:31324491 rs3180379 |
- | 0.0585969 | - | - | |
82_ARG | LEU |
8.3kJPN chr6:31324491 rs3180379 |
- | 0.0127 | - | - | |
83_GLY | CYS |
gnomAD chr6:31324489 rs3180380 |
- | 0.0256312 | - | - | |
83_GLY | ARG |
gnomAD chr6:31324489 rs3180380 |
- | 0.0572772 | - | - | |
83_GLY | CYS |
8.3kJPN chr6:31324489 rs3180380 |
- | - | - | - | |
84_TYR | TER |
8.3kJPN chr6:29910784 rs41562119 |
- | 0.0002 | - | - | |
84_TYR | HIS |
8.3kJPN chr6:31239397 rs77376497 |
- | 0.0001 | - | - | |
85_TYR | CYS |
8.3kJPN chr6:31324482 rs151341200 |
- | 0.0001 | - | - | |
87_GLN | TER |
8.3kJPN chr6:31239388 rs281860428 |
- | 0.0001 | - | - | |
90_ALA | ASP |
8.3kJPN chr6:29910801 rs1136692 |
- | 0.3095 | - | - | |
90_ASP | ALA |
8.3kJPN chr6:31239378 rs1131123 |
- | 0.8087 | - | - | |
90_ALA | ASP |
8.3kJPN chr6:31324467 rs41559314 |
- | 0.0001 | - | - | |
91_GLY | ARG |
8.3kJPN chr6:31239376 rs1131122 |
- | 0.1432 | - | - | |
94_THR | ILE |
gnomAD chr6:31239116 rs1131119 |
- | 0.152179 | - | - | |
94_THR | ILE |
gnomAD chr6:31324210 rs12721827 |
- | 0.218907 | - | - | |
94_THR | ALA |
8.3kJPN chr6:29796328 - |
- | 0.0001 | - | - | |
94_THR | ILE |
8.3kJPN chr6:31239116 rs1131119 |
- | 0.3172 | - | - | |
94_THR | ILE |
8.3kJPN chr6:31324210 rs12721827 |
- | 0.1624 | - | - | |
95_ILE | LEU |
gnomAD chr6:29911056 rs1071743 |
- | 0.175396 | - | - | |
95_ILE | VAL |
gnomAD chr6:29911056 rs1071743 |
- | 0.104781 | - | - | |
95_LEU | PHE |
gnomAD chr6:31239114 rs1071649 |
- | 0.0175309 | - | - | |
95_LEU | ILE |
gnomAD chr6:31239114 rs1071649 |
- | 0.161171 | - | - | |
95_LEU | ILE |
gnomAD chr6:31324208 rs12721829 |
- | 0.243488 | - | - | |
95_ILE | VAL |
8.3kJPN chr6:29911056 rs1071743 |
- | - | - | - | |
95_LEU | PHE |
8.3kJPN chr6:31239114 rs1071649 |
- | - | - | - | |
95_LEU | ILE |
8.3kJPN chr6:31324208 rs12721829 |
- | 0.169 | - | - | |
96_GLN | GLU |
8.3kJPN chr6:31324205 - |
- | 0.0001 | - | - | |
97_ILE | ARG |
gnomAD chr6:29911063 rs199474485 |
- | 0.194719 | - | - | |
97_ILE | MET |
gnomAD chr6:29911064 rs1136695 |
- | 0.596957 | - | - | |
97_ARG | SER |
gnomAD chr6:31239106 rs41556316 |
- | 0.000358277 | - | - | |
97_ARG | THR |
gnomAD chr6:31239107 rs2308567 |
- | 0.00101852 | - | - | |
97_ARG | TRP |
gnomAD chr6:31239108 rs1131118 |
- | 0.248662 | - | - | |
97_SER | ARG |
gnomAD chr6:31324200 rs1140412 |
- | 0.709634 | - | - | |
97_SER | ILE |
gnomAD chr6:31324201 rs1071652 |
- | 0.019836 | - | - | |
97_SER | THR |
gnomAD chr6:31324201 rs1071652 |
- | 0.06639 | - | - | |
97_SER | ASN |
gnomAD chr6:31324201 rs1071652 |
- | 0.0312678 | - | - | |
97_SER | CYS |
gnomAD chr6:31324202 rs41556417 |
- | 0.012018 | - | - | |
97_SER | GLY |
gnomAD chr6:31324202 rs41556417 |
- | 0.0189069 | - | - | |
97_ILE | ARG |
8.3kJPN chr6:29911063 rs199474485 |
- | 0.3776 | - | - | |
97_ILE | MET |
8.3kJPN chr6:29911064 rs1136695 |
- | 0.9006 | - | - | |
97_ARG | THR |
8.3kJPN chr6:31239107 rs2308567 |
- | 0.0249 | - | - | |
97_ARG | TRP |
8.3kJPN chr6:31239108 rs1131118 |
- | 0.2977 | - | - | |
97_SER | ASN |
8.3kJPN chr6:31324201 rs1071652 |
- | - | - | - | |
97_SER | CYS |
8.3kJPN chr6:31324202 rs41556417 |
- | 0.0001 | - | - | |
98_MET | THR |
gnomAD chr6:31324198 rs41562913 |
- | 0.000420128 | - | - | |
99_TYR | HIS |
gnomAD chr6:29911068 rs41551416 |
- | 0.000101013 | - | - | |
99_TYR | SER |
gnomAD chr6:29911069 rs1136697 |
- | 0.000213799 | - | - | |
99_TYR | CYS |
gnomAD chr6:29911069 rs1136697 |
- | 0.00326043 | - | - | |
99_TYR | PHE |
gnomAD chr6:29911069 rs1136697 |
- | 0.141847 | - | - | |
99_SER | PHE |
gnomAD chr6:31239101 rs1131115 |
- | 0.143037 | - | - | |
99_SER | CYS |
gnomAD chr6:31239101 rs1131115 |
- | 0.05224 | - | - | |
99_SER | TYR |
gnomAD chr6:31239101 rs1131115 |
- | 0.660366 | - | - | |
99_TYR | PHE |
gnomAD chr6:31324195 rs151341218 |
- | 0.00489323 | - | - | |
99_TYR | SER |
gnomAD chr6:31324195 rs151341218 |
- | 0.00377819 | - | - | |
99_TYR | PHE |
8.3kJPN chr6:29911069 rs1136697 |
- | - | - | - | |
99_SER | PHE |
8.3kJPN chr6:31239101 rs1131115 |
- | - | - | - | |
99_TYR | PHE |
8.3kJPN chr6:31324195 rs151341218 |
- | - | - | - | |
100_GLY | ASP |
gnomAD chr6:29796347 rs76011433 |
- | 0.00016195 | - | - | |
100_GLY | CYS |
8.3kJPN chr6:31324193 rs1476918609 |
- | 0.0001 | - | - | |
102_ASP | HIS |
gnomAD chr6:29911077 rs199474490 |
- | 0.00474176 | - | - | |
102_ASP | HIS |
8.3kJPN chr6:29911077 rs199474490 |
- | 0.0001 | - | - | |
103_LEU | VAL |
gnomAD chr6:31239090 rs34592426 |
- | 0.104059 | - | - | |
103_VAL | LEU |
gnomAD chr6:31324184 rs1131112 |
- | 0.0848799 | - | - | |
103_VAL | MET |
gnomAD chr6:31324184 rs1131112 |
- | 0.000316411 | - | - | |
103_VAL | LEU |
8.3kJPN chr6:31324184 rs1131112 |
- | 0.2094 | - | - | |
104_GLY | ARG |
8.3kJPN chr6:29911083 - |
- | 0.0001 | - | - | |
105_SER | PRO |
gnomAD chr6:29911086 rs1136700 |
- | 0.318001 | - | - | |
105_SER | PRO |
8.3kJPN chr6:29911086 rs1136700 |
- | 0.2248 | - | - | |
107_GLY | TRP |
gnomAD chr6:29911092 rs1136702 |
- | 0.171475 | - | - | |
107_GLY | TRP |
8.3kJPN chr6:29911092 rs1136702 |
- | 0.2425 | - | - | |
109_PHE | LEU |
gnomAD chr6:29911098 rs1059488 |
- | 0.0368224 | - | - | |
109_LEU | PHE |
gnomAD chr6:31324166 rs41558819 |
- | 0.00697598 | - | - | |
109_PHE | LEU |
8.3kJPN chr6:29911098 rs1059488 |
- | 0.0001 | - | - | |
110_LEU | ILE |
gnomAD chr6:29796376 rs12722477 |
- | 0.138036 | - | - | |
110_LEU | ILE |
8.3kJPN chr6:29796376 rs12722477 |
- | 0.4192 | - | - | |
112_GLY | GLU |
8.3kJPN chr6:29911108 rs199474502 |
- | 0.0001 | - | - | |
112_GLY | ARG |
8.3kJPN chr6:31239063 rs41562320 |
- | 0.0001 | - | - | |
113_HIS | TYR |
gnomAD chr6:31324154 rs1050379 |
- | 0.270303 | - | - | |
113_TYR | HIS |
8.3kJPN chr6:31239060 rs2308574 |
- | - | - | - | |
113_HIS | TYR |
8.3kJPN chr6:31324154 rs1050379 |
- | 0.0876 | - | - | |
114_ARG | GLN |
gnomAD chr6:29911114 rs3173420 |
- | 0.57675 | - | - | |
114_ARG | LEU |
gnomAD chr6:29911114 rs3173420 |
- | 0.020795 | - | - | |
114_ASP | VAL |
gnomAD chr6:31239056 rs41542424 |
- | 0.000735013 | - | - | |
114_ASP | ASN |
gnomAD chr6:31239057 rs2308575 |
- | 0.251387 | - | - | |
114_ASP | HIS |
gnomAD chr6:31324151 rs709055 |
- | 0.0349292 | - | - | |
114_ASP | ASN |
gnomAD chr6:31324151 rs709055 |
- | 0.461861 | - | - | |
114_ARG | GLN |
8.3kJPN chr6:29911114 rs3173420 |
- | - | - | - | |
114_ASP | ASN |
8.3kJPN chr6:31239057 rs2308575 |
- | 0.1684 | - | - | |
114_ASP | ASN |
8.3kJPN chr6:31324151 rs709055 |
- | - | - | - | |
115_GLN | ARG |
8.3kJPN chr6:29911117 rs41560122 |
- | 0.0001 | - | - | |
116_ASP | ASN |
gnomAD chr6:29911119 rs3173419 |
- | 0.000338887 | - | - | |
116_ASP | HIS |
gnomAD chr6:29911119 rs3173419 |
- | 0.0205912 | - | - | |
116_ASP | TYR |
gnomAD chr6:29911119 rs3173419 |
- | 0.391445 | - | - | |
116_SER | PHE |
gnomAD chr6:31239050 rs713032 |
- | 0.316034 | - | - | |
116_SER | TYR |
gnomAD chr6:31239050 rs713032 |
- | 0.126454 | - | - | |
116_TYR | PHE |
gnomAD chr6:31324144 rs4997052 |
- | 0.194472 | - | - | |
116_TYR | SER |
gnomAD chr6:31324144 rs4997052 |
- | 0.214501 | - | - | |
116_TYR | ASP |
gnomAD chr6:31324145 rs9266150 |
- | 0.120817 | - | - | |
116_TYR | ASN |
gnomAD chr6:31324145 rs9266150 |
- | 0.000380162 | - | - | |
116_ASP | ASN |
8.3kJPN chr6:29911119 rs3173419 |
- | - | - | - | |
116_SER | PHE |
8.3kJPN chr6:31239050 rs713032 |
- | - | - | - | |
116_SER | ALA |
8.3kJPN chr6:31239051 rs41553719 |
- | 0.0005 | - | - | |
116_TYR | TER |
8.3kJPN chr6:31324143 rs12697944 |
- | 0.127 | - | - | |
116_TYR | PHE |
8.3kJPN chr6:31324144 rs4997052 |
- | - | - | - | |
116_TYR | ASP |
8.3kJPN chr6:31324145 rs9266150 |
- | 0.069 | - | - | |
119_ASP | TYR |
8.3kJPN chr6:31239042 rs72558147 |
- | 0.0001 | - | - | |
127_ASN | LYS |
gnomAD chr6:29911154 rs1059509 |
- | 0.454001 | - | - | |
127_ASN | LYS |
8.3kJPN chr6:29911154 rs1059509 |
- | 0.6034 | - | - | |
128_GLU | GLY |
8.3kJPN chr6:29796431 - |
- | 0.0001 | - | - | |
129_ASP | GLY |
8.3kJPN chr6:29796434 rs556645753 |
- | 0.0001 | - | - | |
131_ARG | SER |
8.3kJPN chr6:31239006 rs76907552 |
- | 0.1415 | - | - | |
131_ARG | SER |
8.3kJPN chr6:31324100 rs1050654 |
- | 0.6861 | - | - | |
135_ALA | VAL |
8.3kJPN chr6:29911177 rs80300804 |
- | 0.0001 | - | - | |
138_THR | ASN |
gnomAD chr6:31238984 rs2308584 |
- | 0.034549 | - | - | |
138_THR | LYS |
gnomAD chr6:31324078 rs1050368 |
- | 0.0465648 | - | - | |
138_MET | LYS |
8.3kJPN chr6:29911186 rs41549316 |
- | 0.0007 | - | - | |
138_THR | ASN |
8.3kJPN chr6:31238984 rs2308584 |
- | 0.0044 | - | - | |
138_THR | LYS |
8.3kJPN chr6:31324078 rs1050368 |
- | 0.0005 | - | - | |
142_ILE | THR |
gnomAD chr6:29911198 rs1059516 |
- | 0.322077 | - | - | |
142_ILE | THR |
8.3kJPN chr6:29911198 rs1059516 |
- | 0.2486 | - | - | |
143_THR | SER |
gnomAD chr6:31238970 rs142570222 |
- | 0.0160592 | - | - | |
143_THR | SER |
gnomAD chr6:31324064 rs41541519 |
- | 0.0580677 | - | - | |
143_THR | SER |
8.3kJPN chr6:31324064 rs41541519 |
- | 0.0888 | - | - | |
144_LYS | GLN |
gnomAD chr6:29911203 rs1059517 |
- | 0.243972 | - | - | |
144_LYS | ARG |
8.3kJPN chr6:29796479 - |
- | 0.0001 | - | - | |
144_LYS | GLN |
8.3kJPN chr6:29911203 rs1059517 |
- | 0.2996 | - | - | |
144_GLN | ARG |
8.3kJPN chr6:31238966 rs281860502 |
- | 0.0004 | - | - | |
144_GLN | ARG |
8.3kJPN chr6:31324060 rs151341283 |
- | 0.0003 | - | - | |
145_ARG | HIS |
gnomAD chr6:29911207 rs1059520 |
- | 0.317897 | - | - | |
145_ARG | LEU |
gnomAD chr6:31238963 rs75272234 |
- | 0.00709091 | - | - | |
145_ARG | HIS |
8.3kJPN chr6:29911207 rs1059520 |
- | 0.2455 | - | - | |
145_ARG | LEU |
8.3kJPN chr6:31238963 rs75272234 |
- | 0.0005 | - | - | |
145_ARG | LEU |
8.3kJPN chr6:31324057 rs12697943 |
- | 0.0121 | - | - | |
146_LYS | GLU |
gnomAD chr6:29796484 rs375611189 |
- | 0.000156915 | - | - | |
147_LEU | TRP |
gnomAD chr6:31238957 rs1050366 |
- | 0.721634 | - | - | |
147_TRP | LEU |
gnomAD chr6:31324051 rs41551018 |
- | 0.0570937 | - | - | |
147_LEU | TRP |
8.3kJPN chr6:31238957 rs1050366 |
- | 0.8635 | - | - | |
147_TRP | LEU |
8.3kJPN chr6:31324051 rs41551018 |
- | 0.0889 | - | - | |
149_ALA | THR |
gnomAD chr6:29911218 rs1059526 |
- | 0.0621537 | - | - | |
149_ALA | THR |
gnomAD chr6:31324046 rs779634815 |
- | 0.000179001 | - | - | |
149_ALA | THR |
8.3kJPN chr6:29911218 rs1059526 |
- | 0.1283 | - | - | |
150_ALA | VAL |
gnomAD chr6:29911222 rs1059535 |
- | 0.110819 | - | - | |
150_ALA | VAL |
8.3kJPN chr6:29911222 rs1059535 |
- | 0.0039 | - | - | |
151_HIS | ARG |
gnomAD chr6:29911225 rs1059536 |
- | 0.174683 | - | - | |
151_ARG | HIS |
gnomAD chr6:31324039 rs41553417 |
- | 0.000233009 | - | - | |
151_HIS | TYR |
8.3kJPN chr6:29911224 rs41562118 |
- | 0.0001 | - | - | |
151_HIS | ARG |
8.3kJPN chr6:29911225 rs1059536 |
- | 0.1642 | - | - | |
152_GLU | GLN |
gnomAD chr6:29911227 rs1059537 |
- | 0.00954244 | - | - | |
152_GLU | ALA |
gnomAD chr6:29911228 rs9256983 |
- | 0.195685 | - | - | |
152_GLU | GLY |
gnomAD chr6:29911228 rs9256983 |
- | 0.0267176 | - | - | |
152_GLU | VAL |
gnomAD chr6:29911228 rs9256983 |
- | 0.566072 | - | - | |
152_ALA | VAL |
gnomAD chr6:31238942 rs2308590 |
- | 0.277022 | - | - | |
152_ALA | GLU |
gnomAD chr6:31238942 rs2308590 |
- | 0.423293 | - | - | |
152_ALA | THR |
gnomAD chr6:31238943 rs41552817 |
- | 0.0171412 | - | - | |
152_GLU | TER |
8.3kJPN chr6:29911227 rs1059537 |
- | 0.002 | - | - | |
152_GLU | VAL |
8.3kJPN chr6:29911228 rs9256983 |
- | - | - | - | |
152_ALA | VAL |
8.3kJPN chr6:31238942 rs2308590 |
- | - | - | - | |
152_ALA | THR |
8.3kJPN chr6:31238943 rs41552817 |
- | 0.0896 | - | - | |
152_GLU | VAL |
8.3kJPN chr6:31324036 rs151341293 |
- | 0.539 | - | - | |
156_LEU | TRP |
gnomAD chr6:29911240 rs9260156 |
- | 0.24881 | - | - | |
156_ARG | TRP |
gnomAD chr6:31324025 rs9266144 |
- | 0.187933 | - | - | |
156_ARG | GLY |
8.3kJPN chr6:29796514 - |
- | 0.0001 | - | - | |
156_LEU | TER |
8.3kJPN chr6:29911240 rs9260156 |
- | - | - | - | |
156_LEU | ARG |
8.3kJPN chr6:31238930 rs2308592 |
- | 0.3961 | - | - | |
156_ARG | LEU |
8.3kJPN chr6:31324024 rs697742 |
- | 0.7578 | - | - | |
156_ARG | TRP |
8.3kJPN chr6:31324025 rs9266144 |
- | 0.163 | - | - | |
157_ARG | THR |
8.3kJPN chr6:29911243 rs41551921 |
- | 0.0013 | - | - | |
158_ALA | VAL |
gnomAD chr6:29911246 rs9260157 |
- | 0.10692 | - | - | |
158_ALA | THR |
gnomAD chr6:31238925 rs141142418 |
- | 0.0343058 | - | - | |
158_ALA | THR |
gnomAD chr6:31324019 rs1050683 |
- | 0.00594919 | - | - | |
158_ALA | SER |
8.3kJPN chr6:29911245 rs41540012 |
- | 0.0001 | - | - | |
158_ALA | VAL |
8.3kJPN chr6:29911246 rs9260157 |
- | 0.0039 | - | - | |
158_ALA | THR |
8.3kJPN chr6:31238925 rs141142418 |
- | 0.0436 | - | - | |
158_ALA | VAL |
8.3kJPN chr6:31324018 rs41542712 |
- | 0.0001 | - | - | |
158_ALA | THR |
8.3kJPN chr6:31324019 rs1050683 |
- | 0.0328 | - | - | |
159_TYR | HIS |
gnomAD chr6:29796523 rs55916353 |
- | 0.000172616 | - | - | |
160_LEU | MET |
8.3kJPN chr6:31238919 rs41561720 |
- | 0.0001 | - | - | |
161_ASP | GLU |
gnomAD chr6:29911256 rs1059542 |
- | 0.883074 | - | - | |
161_ASP | GLU |
8.3kJPN chr6:29911256 rs1059542 |
- | 0.9942 | - | - | |
162_GLY | ASP |
gnomAD chr6:31324006 rs41543920 |
- | 0.000165089 | - | - | |
162_GLY | SER |
8.3kJPN chr6:29796532 - |
- | 0.0001 | - | - | |
163_THR | PRO |
gnomAD chr6:29911260 rs543623321 |
- | 0.222716 | - | - | |
163_THR | ALA |
gnomAD chr6:29911260 rs543623321 |
- | 0.00137745 | - | - | |
163_THR | LYS |
gnomAD chr6:29911261 - |
- | 0.00139134 | - | - | |
163_THR | ARG |
gnomAD chr6:29911261 - |
- | 0.223702 | - | - | |
163_GLU | VAL |
gnomAD chr6:31324003 rs2308466 |
- | 0.381385 | - | - | |
163_GLU | GLY |
gnomAD chr6:31324003 rs2308466 |
- | 0.000211466 | - | - | |
163_GLU | ALA |
gnomAD chr6:31324003 rs2308466 |
- | 0.346523 | - | - | |
163_GLU | GLN |
gnomAD chr6:31324004 rs2523600 |
- | 0.382636 | - | - | |
163_GLU | LYS |
gnomAD chr6:31324004 rs2523600 |
- | 0.345758 | - | - | |
163_THR | PRO |
8.3kJPN chr6:29911260 rs543623321 |
- | 0.2062 | - | - | |
163_THR | ARG |
8.3kJPN chr6:29911261 rs3129017 |
- | 0.2388 | - | - | |
163_THR | MET |
8.3kJPN chr6:31238909 rs1050686 |
- | - | - | - | |
163_THR | PRO |
8.3kJPN chr6:31238910 rs1050685 |
- | - | - | - | |
163_GLU | VAL |
8.3kJPN chr6:31324003 rs2308466 |
- | - | - | - | |
163_GLU | LYS |
8.3kJPN chr6:31324004 rs2523600 |
- | - | - | - | |
165_VAL | MET |
gnomAD chr6:29911266 rs41562120 |
- | 0.000171601 | - | - | |
165_VAL | GLU |
8.3kJPN chr6:29911267 rs61760919 |
- | 0.0001 | - | - | |
166_GLU | ASP |
gnomAD chr6:29911271 rs879577815 |
- | 0.218624 | - | - | |
166_GLU | ASP |
gnomAD chr6:31238899 rs138584390 |
- | 0.000642144 | - | - | |
166_GLU | ASP |
gnomAD chr6:31323993 rs41551919 |
- | 0.000338777 | - | - | |
166_GLU | ASP |
8.3kJPN chr6:29911271 rs879577815 |
- | 0.3563 | - | - | |
167_TRP | ARG |
gnomAD chr6:29911272 rs3098019 |
- | 0.000109439 | - | - | |
167_TRP | GLY |
gnomAD chr6:29911272 rs3098019 |
- | 0.220569 | - | - | |
167_TRP | GLY |
gnomAD chr6:31238898 rs201707949 |
- | 0.000609053 | - | - | |
167_TRP | SER |
gnomAD chr6:31323991 rs1050692 |
- | 0.0757155 | - | - | |
167_TRP | GLY |
gnomAD chr6:31323992 rs41551517 |
- | 0.00034635 | - | - | |
167_TRP | ARG |
8.3kJPN chr6:29911272 rs3098019 |
- | - | - | - | |
167_TRP | SER |
8.3kJPN chr6:31238897 rs150127748 |
- | 0.0212 | - | - | |
167_TRP | SER |
8.3kJPN chr6:31323991 rs1050692 |
- | 0.068 | - | - | |
169_ARG | CYS |
8.3kJPN chr6:29911278 rs199474570 |
- | 0.0001 | - | - | |
169_ARG | SER |
8.3kJPN chr6:31323986 rs41558514 |
- | 0.0003 | - | - | |
170_ARG | GLY |
gnomAD chr6:31238889 rs2308598 |
- | 0.0106198 | - | - | |
170_ARG | GLY |
gnomAD chr6:31323983 rs80093308 |
- | 0.00260933 | - | - | |
171_TYR | HIS |
gnomAD chr6:29911284 rs41563116 |
- | 0.00934815 | - | - | |
171_TYR | HIS |
gnomAD chr6:31323980 rs1050696 |
- | 0.071608 | - | - | |
171_TYR | HIS |
8.3kJPN chr6:31238886 rs77935220 |
- | 0.0051 | - | - | |
171_TYR | HIS |
8.3kJPN chr6:31323980 rs1050696 |
- | 0.1922 | - | - | |
173_GLU | LYS |
8.3kJPN chr6:31238880 rs1050357 |
- | 0.2701 | - | - | |
173_GLU | LYS |
8.3kJPN chr6:31323974 rs41545114 |
- | 0.002 | - | - | |
175_GLY | ARG |
gnomAD chr6:29911296 rs41559916 |
- | 0.0651462 | - | - | |
175_GLY | ARG |
gnomAD chr6:31238874 rs41552417 |
- | 0.00151839 | - | - | |
175_GLY | ARG |
8.3kJPN chr6:29911296 rs41559916 |
- | 0.2035 | - | - | |
175_GLY | ARG |
8.3kJPN chr6:31238874 rs41552417 |
- | 0.0158 | - | - | |
177_GLU | LYS |
gnomAD chr6:31238868 rs1131103 |
- | 0.108533 | - | - | |
177_ASP | GLU |
gnomAD chr6:31323960 rs1131275 |
- | 0.67715 | - | - | |
177_GLU | LYS |
8.3kJPN chr6:31238868 rs1131103 |
- | 0.1054 | - | - | |
177_ASP | GLU |
8.3kJPN chr6:31323960 rs1131275 |
- | 0.8627 | - | - | |
178_THR | MET |
gnomAD chr6:29911306 rs9391665 |
- | 0.075017 | - | - | |
178_LYS | THR |
gnomAD chr6:31323958 rs1131279 |
- | 0.813302 | - | - | |
178_THR | MET |
8.3kJPN chr6:29911306 rs9391665 |
- | 0.205 | - | - | |
178_LYS | THR |
8.3kJPN chr6:31323958 rs1131279 |
- | 0.8629 | - | - | |
180_GLU | GLN |
gnomAD chr6:31323953 rs1131285 |
- | 0.725806 | - | - | |
180_GLU | GLN |
8.3kJPN chr6:31323953 rs1131285 |
- | 0.8633 | - | - | |
181_ARG | HIS |
8.3kJPN chr6:29911315 rs17185861 |
- | 0.0001 | - | - | |
183_ASP | GLU |
8.3kJPN chr6:29797196 rs756079304 |
- | 0.0001 | - | - | |
183_ASP | TYR |
8.3kJPN chr6:29911320 rs62687162 |
- | 0.0001 | - | - | |
183_ASP | GLU |
8.3kJPN chr6:31323368 rs746030903 |
- | 0.0113 | - | - | |
184_PRO | ARG |
gnomAD chr6:31238259 rs1131096 |
- | 0.0132684 | - | - | |
184_PRO | HIS |
gnomAD chr6:31238259 rs1131096 |
- | 0.723359 | - | - | |
184_PRO | THR |
8.3kJPN chr6:29911901 rs1136741 |
- | - | - | - | |
184_PRO | HIS |
8.3kJPN chr6:31238259 rs1131096 |
- | 0.862 | - | - | |
184_PRO | HIS |
8.3kJPN chr6:31323366 rs199875334 |
- | 0.0122 | - | - | |
185_PRO | SER |
8.3kJPN chr6:29797200 - |
- | 0.0001 | - | - | |
185_PRO | LEU |
8.3kJPN chr6:31238256 rs1215008117 |
- | 0.0001 | - | - | |
186_LYS | ARG |
gnomAD chr6:29911908 rs41557315 |
- | 0.000570804 | - | - | |
192_HIS | TYR |
gnomAD chr6:29911925 rs77235917 |
- | 0.0532167 | - | - | |
193_PRO | LEU |
gnomAD chr6:31238232 rs1050343 |
- | 0.033165 | - | - | |
193_PRO | ALA |
8.3kJPN chr6:29911928 rs1059563 |
- | 0.4231 | - | - | |
194_LEU | VAL |
gnomAD chr6:31238230 rs1050716 |
- | 0.735383 | - | - | |
194_ILE | VAL |
gnomAD chr6:31323337 rs1050341 |
- | 0.234633 | - | - | |
194_ILE | VAL |
8.3kJPN chr6:29911931 rs9260179 |
- | 0.423 | - | - | |
194_LEU | VAL |
8.3kJPN chr6:31238230 rs1050716 |
- | 0.8622 | - | - | |
194_ILE | VAL |
8.3kJPN chr6:31323337 rs1050341 |
- | 0.2903 | - | - | |
199_ALA | VAL |
gnomAD chr6:31323321 rs1050723 |
- | 0.0968475 | - | - | |
199_ALA | VAL |
8.3kJPN chr6:31323321 rs1050723 |
- | 0.0668 | - | - | |
200_THR | SER |
8.3kJPN chr6:29911950 - |
- | 0.0001 | - | - | |
206_LEU | GLN |
8.3kJPN chr6:29911968 - |
- | 0.0001 | - | - | |
207_GLY | SER |
8.3kJPN chr6:29911970 rs9260180 |
- | 0.4978 | - | - | |
209_TYR | CYS |
8.3kJPN chr6:31323291 - |
- | 0.0001 | - | - | |
211_ALA | VAL |
gnomAD chr6:29797279 rs147620137 |
- | 0.000103523 | - | - | |
211_ALA | THR |
gnomAD chr6:31238179 rs41562012 |
- | 0.0287348 | - | - | |
211_ALA | GLY |
gnomAD chr6:31323285 rs41553413 |
- | 0.00206797 | - | - | |
211_ALA | THR |
8.3kJPN chr6:31238179 rs41562012 |
- | 0.0004 | - | - | |
211_ALA | GLU |
8.3kJPN chr6:31323285 rs41553413 |
- | - | - | - | |
219_ARG | TRP |
gnomAD chr6:29797302 rs45530733 |
- | 0.00029475 | - | - | |
219_ARG | GLN |
gnomAD chr6:29797303 rs79984266 |
- | 0.000171211 | - | - | |
219_ARG | TRP |
gnomAD chr6:31238155 rs1050328 |
- | 0.327884 | - | - | |
219_ARG | GLN |
8.3kJPN chr6:29797303 rs79984266 |
- | 0.0001 | - | - | |
219_ARG | TRP |
8.3kJPN chr6:31238155 rs1050328 |
- | 0.6254 | - | - | |
219_ARG | TRP |
8.3kJPN chr6:31323262 rs77665001 |
- | 0.0373 | - | - | |
222_GLU | GLY |
8.3kJPN chr6:31238145 - |
- | 0.0001 | - | - | |
224_GLN | HIS |
gnomAD chr6:29912023 rs138704952 |
- | 0.000647092 | - | - | |
226_GLN | TER |
8.3kJPN chr6:29797323 rs144753960 |
- | 0.0032 | - | - | |
227_ASP | HIS |
8.3kJPN chr6:29912030 rs145046067 |
- | 0.0724 | - | - | |
228_THR | MET |
gnomAD chr6:29912034 rs61760923 |
- | 0.000161509 | - | - | |
229_GLU | GLN |
gnomAD chr6:31238125 rs41547622 |
- | 0.000540922 | - | - | |
231_VAL | MET |
8.3kJPN chr6:29912042 rs150028516 |
- | - | - | - | |
236_ALA | GLU |
gnomAD chr6:29912058 rs41540417 |
- | 0.000153576 | - | - | |
236_ALA | VAL |
8.3kJPN chr6:31323210 rs41543613 |
- | 0.0015 | - | - | |
239_ARG | GLY |
gnomAD chr6:31323202 rs41545916 |
- | 0.063906 | - | - | |
239_ARG | GLY |
8.3kJPN chr6:31323202 rs41545916 |
- | 0.043 | - | - | |
240_THR | ILE |
gnomAD chr6:29912070 rs41548917 |
- | 0.000117172 | - | - | |
240_THR | ASN |
8.3kJPN chr6:29912070 rs41548917 |
- | - | - | - | |
240_THR | ASN |
8.3kJPN chr6:31323198 - |
- | 0.0001 | - | - | |
243_LYS | ASN |
8.3kJPN chr6:31238081 rs769913093 |
- | 0.0001 | - | - | |
244_TRP | ARG |
8.3kJPN chr6:29797377 - |
- | 0.0001 | - | - | |
245_ALA | THR |
gnomAD chr6:31323184 rs2308488 |
- | 0.00881972 | - | - | |
245_ALA | THR |
8.3kJPN chr6:29912084 - |
- | 0.0001 | - | - | |
245_ALA | VAL |
8.3kJPN chr6:29912085 rs148794540 |
- | 0.0002 | - | - | |
245_ALA | THR |
8.3kJPN chr6:31323184 rs2308488 |
- | 0.0331 | - | - | |
246_ALA | SER |
gnomAD chr6:29912087 rs1059632 |
- | 0.15862 | - | - | |
246_ALA | PRO |
8.3kJPN chr6:29797383 rs1231277366 |
- | 0.0001 | - | - | |
246_ALA | SER |
8.3kJPN chr6:29912087 rs1059632 |
- | 0.292 | - | - | |
248_VAL | MET |
gnomAD chr6:31238068 rs1050276 |
- | 0.0426097 | - | - | |
248_VAL | MET |
8.3kJPN chr6:31238068 rs1050276 |
- | 0.1637 | - | - | |
248_VAL | MET |
8.3kJPN chr6:31323175 rs41558116 |
- | 0.0067 | - | - | |
250_PRO | LEU |
gnomAD chr6:31323168 rs41545517 |
- | 0.00010339 | - | - | |
250_PRO | LEU |
8.3kJPN chr6:29912100 rs770552939 |
- | 0.0002 | - | - | |
253_GLN | GLU |
gnomAD chr6:31238053 rs707908 |
- | 0.722701 | - | - | |
253_GLU | GLN |
8.3kJPN chr6:29912108 rs2231095 |
- | 0.5174 | - | - | |
253_GLN | GLU |
8.3kJPN chr6:31238053 rs707908 |
- | 0.8598 | - | - | |
255_GLN | LYS |
gnomAD chr6:29912114 rs1059644 |
- | 0.000591716 | - | - | |
257_TYR | TER |
8.3kJPN chr6:29912122 rs41555316 |
- | 0.0002 | - | - | |
258_THR | MET |
gnomAD chr6:29797420 rs12722482 |
- | 0.0566307 | - | - | |
258_THR | MET |
8.3kJPN chr6:29797420 rs12722482 |
- | 0.0041 | - | - | |
261_MET | ILE |
gnomAD chr6:31238027 rs41540117 |
- | 0.0827675 | - | - | |
261_MET | VAL |
gnomAD chr6:31238029 rs2308622 |
- | 0.673218 | - | - | |
261_MET | ILE |
8.3kJPN chr6:31238027 rs41540117 |
- | 0.0428 | - | - | |
261_MET | VAL |
8.3kJPN chr6:31238029 rs2308622 |
- | 0.8597 | - | - | |
265_GLY | VAL |
8.3kJPN chr6:29797441 - |
- | 0.0001 | - | - | |
267_GLN | PRO |
gnomAD chr6:31238010 rs1131015 |
- | 0.541592 | - | - | |
267_PRO | GLN |
gnomAD chr6:31323117 rs1611623 |
- | 0.000191054 | - | - | |
267_GLN | LEU |
8.3kJPN chr6:31238010 rs1131015 |
- | - | - | - | |
268_LYS | GLU |
8.3kJPN chr6:29912153 rs1136835 |
- | 0.0229 | - | - | |
268_LYS | GLU |
8.3kJPN chr6:31323115 rs41541515 |
- | 0.0529 | - | - | |
269_PRO | LEU |
8.3kJPN chr6:29912157 rs550984689 |
- | 0.0016 | - | - | |
270_LEU | ARG |
gnomAD chr6:31238001 rs41546713 |
- | 0.0125636 | - | - | |
270_LEU | PHE |
gnomAD chr6:31238002 rs41558713 |
- | 0.0126775 | - | - | |
270_LEU | ARG |
gnomAD chr6:31323108 rs41560417 |
- | 0.000218933 | - | - | |
270_LEU | PHE |
gnomAD chr6:31323109 rs41555419 |
- | 0.000222893 | - | - | |
273_SER | ARG |
gnomAD chr6:31237991 rs2308628 |
- | 0.518186 | - | - | |
273_SER | ARG |
8.3kJPN chr6:31237991 rs2308628 |
- | 0.8601 | - | - | |
275_GLU | GLY |
8.3kJPN chr6:31237862 rs9264621 |
- | 0.0955 | - | - | |
275_GLU | LYS |
8.3kJPN chr6:31237987 rs41556321 |
- | 0.043 | - | - | |
275_GLU | LYS |
8.3kJPN chr6:31323094 rs2308500 |
- | 0.0007 | - | - |