10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | P | G | R | C | D | P | P | V | I | S | N | I | T | K | D | H | M | T | V | S | W | K | P | P | A | D | D | G | G | S | P | I | T | G | Y | L | L | E | K | R | E | T | Q | A | V | N | W | T | K | V | N | R | K | P | I | I | E | R | T | L | K | A | T | G | L | Q | E | G | T | E | Y | E | F | R | V | T | A | I | N | K | A | G | P | G | K | P | S | D | A | S | K | A | A | Y | A | R | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
22055 | 1 | P/L | 1 | None | 0.5470 | None | gnomAD-4.0.0 | 6.9344E-07 | |
22055 | 1 | P/Q | 1 | rs1286811365 | 0.5470 | None | gnomAD-2.1.1 | 4.36E-06 | |
22055 | 1 | P/Q | 1 | rs1286811365 | 0.5470 | None | gnomAD-4.0.0 | 8.32128E-06 | |
22056 | 2 | P/S | 2 | rs2047924833 | 0.1450 | None | gnomAD-4.0.0 | 3.23363E-06 | |
22057 | 3 | G/R | 3 | None | 0.2623 | None | gnomAD-4.0.0 | 1.61757E-06 | |
22058 | 4 | R/C | 4 | rs199643269 | 0.5529 | None | gnomAD-2.1.1 | 1.113E-04 | |
22058 | 4 | R/C | 4 | rs199643269 | 0.5529 | None | gnomAD-3.1.2 | 3.88224E-04 | |
22058 | 4 | R/C | 4 | rs199643269 | 0.5529 | None | 1000 genomes | 1.99681E-04 | |
22058 | 4 | R/C | 4 | rs199643269 | 0.5529 | None | gnomAD-4.0.0 | 8.41867E-05 | |
22058 | 4 | R/H | 4 | rs753077711 | 0.5529 | None | gnomAD-2.1.1 | 3.19E-05 | |
22058 | 4 | R/H | 4 | rs753077711 | 0.5529 | None | gnomAD-3.1.2 | 6.58E-06 | |
22058 | 4 | R/H | 4 | rs753077711 | 0.5529 | None | gnomAD-4.0.0 | 3.73232E-06 | |
22058 | 4 | R/L | 4 | rs753077711 | 0.5529 | None | gnomAD-2.1.1 | 4.13E-06 | |
22058 | 4 | R/L | 4 | rs753077711 | 0.5529 | None | gnomAD-4.0.0 | 2.06103E-06 | |
22058 | 4 | R/S | 4 | None | 0.5529 | None | gnomAD-4.0.0 | 1.3779E-06 | |
22059 | 5 | C/S | 5 | None | 0.1395 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22060 | 6 | D/G | 6 | rs777203619 | 0.6743 | None | gnomAD-3.1.2 | 1.32E-05 | |
22060 | 6 | D/G | 6 | rs777203619 | 0.6743 | None | gnomAD-4.0.0 | 1.7985E-05 | |
22060 | 6 | D/Y | 6 | rs1201131904 | 0.6743 | None | gnomAD-3.1.2 | 6.58E-06 | |
22060 | 6 | D/Y | 6 | rs1201131904 | 0.6743 | None | gnomAD-4.0.0 | 6.57877E-06 | |
22062 | 8 | P/S | 9 | None | 0.1332 | None | gnomAD-4.0.0 | 2.7387E-06 | |
22063 | 9 | V/L | 11 | rs768057735 | 0.6014 | None | gnomAD-2.1.1 | 6.49E-05 | |
22063 | 9 | V/L | 11 | rs768057735 | 0.6014 | None | gnomAD-3.1.2 | 3.95E-05 | |
22063 | 9 | V/L | 11 | rs768057735 | 0.6014 | None | gnomAD-4.0.0 | 5.51877E-05 | |
22066 | 12 | N/D | 14 | rs1394300458 | 0.5071 | None | gnomAD-2.1.1 | 4.05E-06 | |
22066 | 12 | N/D | 14 | rs1394300458 | 0.5071 | None | gnomAD-4.0.0 | 8.21548E-06 | |
22066 | 12 | N/S | 14 | rs1400000859 | 0.5071 | None | gnomAD-2.1.1 | 7.19E-06 | |
22066 | 12 | N/S | 14 | rs1400000859 | 0.5071 | None | gnomAD-3.1.2 | 1.97E-05 | |
22066 | 12 | N/S | 14 | rs1400000859 | 0.5071 | None | gnomAD-4.0.0 | 1.97291E-05 | |
22067 | 13 | I/T | 15 | rs368042545 | 0.2430 | None | gnomAD-2.1.1 | 8.11E-06 | |
22067 | 13 | I/T | 15 | rs368042545 | 0.2430 | None | gnomAD-3.1.2 | 1.32E-05 | |
22067 | 13 | I/T | 15 | rs368042545 | 0.2430 | None | gnomAD-4.0.0 | 1.55024E-05 | |
22067 | 13 | I/V | 15 | rs2154177929 | 0.2430 | None | gnomAD-4.0.0 | 1.59345E-06 | |
22068 | 14 | T/I | 16 | None | 0.0910 | None | gnomAD-4.0.0 | 1.59372E-06 | |
22070 | 16 | D/H | 18 | rs750035436 | 0.3819 | None | gnomAD-2.1.1 | 4.05E-06 | |
22070 | 16 | D/H | 18 | rs750035436 | 0.3819 | None | gnomAD-4.0.0 | 6.84644E-07 | |
22070 | 16 | D/N | 18 | rs750035436 | 0.3819 | None | gnomAD-2.1.1 | 4.05E-06 | |
22070 | 16 | D/N | 18 | rs750035436 | 0.3819 | None | gnomAD-4.0.0 | 2.05393E-06 | |
22071 | 17 | H/P | 19 | rs968902463 | 0.2130 | None | gnomAD-4.0.0 | 6.84663E-07 | |
22071 | 17 | H/R | 19 | rs968902463 | 0.2130 | None | gnomAD-3.1.2 | 6.57E-06 | |
22071 | 17 | H/R | 19 | rs968902463 | 0.2130 | None | gnomAD-4.0.0 | 1.86024E-06 | |
22072 | 18 | M/L | 20 | None | 0.0676 | None | gnomAD-4.0.0 | 1.59359E-06 | |
22072 | 18 | M/R | 20 | rs201420486 | 0.0676 | None | gnomAD-2.1.1 | 4.05E-06 | |
22072 | 18 | M/R | 20 | rs201420486 | 0.0676 | None | gnomAD-4.0.0 | 7.53107E-06 | |
22074 | 20 | V/I | 22 | rs1156659564 | 0.0761 | None | gnomAD-2.1.1 | 8.1E-06 | |
22074 | 20 | V/I | 22 | rs1156659564 | 0.0761 | None | gnomAD-3.1.2 | 1.32E-05 | |
22074 | 20 | V/I | 22 | rs1156659564 | 0.0761 | None | gnomAD-4.0.0 | 3.72065E-06 | |
22075 | 21 | S/G | 23 | None | 0.2051 | None | gnomAD-4.0.0 | 1.36935E-06 | |
22077 | 23 | K/N | 25 | None | 0.7194 | None | gnomAD-4.0.0 | 6.84686E-07 | |
22079 | 25 | P/L | 27 | rs1379026615 | 0.1677 | None | gnomAD-3.1.2 | 6.58E-06 | |
22079 | 25 | P/L | 27 | rs1379026615 | 0.1677 | None | gnomAD-4.0.0 | 6.41453E-06 | |
22079 | 25 | P/S | 27 | None | 0.1677 | None | gnomAD-4.0.0 | 6.84686E-07 | |
22080 | 26 | A/T | 28 | None | 0.8827 | None | gnomAD-4.0.0 | 2.40064E-06 | |
22081 | 27 | D/H | 29 | None | 0.5946 | None | gnomAD-4.0.0 | 1.36929E-06 | |
22081 | 27 | D/N | 29 | None | 0.5946 | None | gnomAD-4.0.0 | 6.84646E-07 | |
22082 | 28 | D/G | 30 | None | 0.2762 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22083 | 29 | G/A | 31 | rs1186241496 | 0.4199 | None | gnomAD-3.1.2 | 6.58E-06 | |
22083 | 29 | G/A | 31 | rs1186241496 | 0.4199 | None | gnomAD-4.0.0 | 6.57722E-06 | |
22083 | 29 | G/V | 31 | rs1186241496 | 0.4199 | None | gnomAD-2.1.1 | 4.04E-06 | |
22084 | 30 | G/S | 32 | rs776226354 | 0.6119 | None | gnomAD-2.1.1 | 4.04E-06 | |
22084 | 30 | G/S | 32 | rs776226354 | 0.6119 | None | gnomAD-4.0.0 | 1.36928E-06 | |
22084 | 30 | G/V | 32 | None | 0.6119 | None | gnomAD-4.0.0 | 1.59379E-06 | |
22085 | 31 | S/L | 33 | rs2047911570 | 0.2490 | None | gnomAD-3.1.2 | 6.58E-06 | |
22085 | 31 | S/L | 33 | rs2047911570 | 0.2490 | None | gnomAD-4.0.0 | 2.03012E-06 | |
22086 | 32 | P/A | 34 | None | 0.6881 | None | gnomAD-4.0.0 | 6.84592E-07 | |
22087 | 33 | I/V | 35 | None | 0.1462 | None | gnomAD-4.0.0 | 1.59318E-06 | |
22088 | 34 | T/A | 36 | rs1559509011 | 0.3553 | None | gnomAD-2.1.1 | 4.04E-06 | |
22088 | 34 | T/A | 36 | rs1559509011 | 0.3553 | None | gnomAD-4.0.0 | 1.59308E-06 | |
22088 | 34 | T/N | 36 | rs886044538 | 0.3553 | None | gnomAD-3.1.2 | 1.97E-05 | |
22088 | 34 | T/N | 36 | rs886044538 | 0.3553 | None | gnomAD-4.0.0 | 1.97314E-05 | |
22088 | 34 | T/P | 36 | rs1559509011 | 0.3553 | None | gnomAD-3.1.2 | 1.32E-05 | |
22088 | 34 | T/P | 36 | rs1559509011 | 0.3553 | None | gnomAD-4.0.0 | 1.31427E-05 | |
22089 | 35 | G/S | 37 | rs2047909091 | 0.0773 | None | gnomAD-4.0.0 | 4.77893E-06 | |
22089 | 35 | G/V | 37 | None | 0.0773 | None | gnomAD-4.0.0 | 1.59306E-06 | |
22090 | 36 | Y/C | 38 | rs760647730 | 0.0886 | None | gnomAD-3.1.2 | 6.58E-06 | |
22090 | 36 | Y/C | 38 | rs760647730 | 0.0886 | None | gnomAD-4.0.0 | 3.84702E-06 | |
22090 | 36 | Y/H | 38 | rs2047908666 | 0.0886 | None | gnomAD-4.0.0 | 1.59283E-06 | |
22090 | 36 | Y/S | 38 | rs760647730 | 0.0886 | None | gnomAD-3.1.2 | 6.58E-06 | |
22090 | 36 | Y/S | 38 | rs760647730 | 0.0886 | None | gnomAD-4.0.0 | 5.12936E-06 | |
22091 | 37 | L/S | 39 | None | 0.2847 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22092 | 38 | L/F | 40 | rs192182734 | 0.0792 | None | gnomAD-2.1.1 | 2.86E-05 | |
22092 | 38 | L/F | 40 | rs192182734 | 0.0792 | None | gnomAD-3.1.2 | 1.32E-05 | |
22092 | 38 | L/F | 40 | rs192182734 | 0.0792 | None | 1000 genomes | 1.99681E-04 | |
22092 | 38 | L/F | 40 | rs192182734 | 0.0792 | None | gnomAD-4.0.0 | 6.81962E-06 | |
22092 | 38 | L/R | 40 | rs1553627146 | 0.0792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22093 | 39 | E/D | 41 | None | 0.1816 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22093 | 39 | E/V | 41 | None | 0.1816 | None | gnomAD-4.0.0 | 2.40064E-06 | |
22095 | 41 | R/Q | 43 | rs745677076 | 0.2137 | None | gnomAD-2.1.1 | 2.82E-05 | |
22095 | 41 | R/Q | 43 | rs745677076 | 0.2137 | None | gnomAD-4.0.0 | 6.16E-06 | |
22095 | 41 | R/W | 43 | rs571093313 | 0.2137 | None | gnomAD-2.1.1 | 6.86E-05 | |
22095 | 41 | R/W | 43 | rs571093313 | 0.2137 | None | gnomAD-3.1.2 | 2.63E-05 | |
22095 | 41 | R/W | 43 | rs571093313 | 0.2137 | None | 1000 genomes | 1.99681E-04 | |
22095 | 41 | R/W | 43 | rs571093313 | 0.2137 | None | gnomAD-4.0.0 | 2.54191E-05 | |
22096 | 42 | E/K | 44 | None | 0.3802 | None | gnomAD-4.0.0 | 1.5925E-06 | |
22098 | 44 | Q/H | 54 | None | 1.0126 | None | gnomAD-4.0.0 | 1.59231E-06 | |
22099 | 45 | A/S | 60 | rs1575927891 | 0.2750 | None | gnomAD-4.0.0 | 1.59232E-06 | |
22099 | 45 | A/V | 60 | rs2047904068 | 0.2750 | None | gnomAD-3.1.2 | 6.58E-06 | |
22099 | 45 | A/V | 60 | rs2047904068 | 0.2750 | None | gnomAD-4.0.0 | 7.69221E-06 | |
22100 | 46 | V/L | 63 | None | 0.9109 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22101 | 47 | N/Y | 64 | None | 0.7764 | None | gnomAD-4.0.0 | 2.05314E-06 | |
22102 | 48 | W/C | 65 | None | 0.2454 | None | gnomAD-4.0.0 | 1.59217E-06 | |
22103 | 49 | T/A | 66 | rs1351683543 | 0.5625 | None | gnomAD-2.1.1 | 4.03E-06 | |
22103 | 49 | T/A | 66 | rs1351683543 | 0.5625 | None | gnomAD-4.0.0 | 1.36876E-06 | |
22103 | 49 | T/I | 66 | rs1283761812 | 0.5625 | None | gnomAD-2.1.1 | 4.02E-06 | |
22103 | 49 | T/I | 66 | rs1283761812 | 0.5625 | None | gnomAD-4.0.0 | 6.36896E-06 | |
22103 | 49 | T/N | 66 | None | 0.5625 | None | gnomAD-4.0.0 | 1.59224E-06 | |
22106 | 52 | N/H | 69 | rs1305235152 | 0.1819 | None | gnomAD-2.1.1 | 3.19E-05 | |
22106 | 52 | N/H | 69 | rs1305235152 | 0.1819 | None | gnomAD-3.1.2 | 6.58E-06 | |
22106 | 52 | N/H | 69 | rs1305235152 | 0.1819 | None | gnomAD-4.0.0 | 1.23972E-06 | |
22106 | 52 | N/K | 69 | rs771219209 | 0.1819 | None | gnomAD-2.1.1 | 4.02E-06 | |
22106 | 52 | N/K | 69 | rs771219209 | 0.1819 | None | gnomAD-4.0.0 | 3.42187E-06 | |
22107 | 53 | R/K | 70 | rs548035555 | 0.9559 | None | gnomAD-2.1.1 | 7.15E-06 | |
22107 | 53 | R/K | 70 | rs548035555 | 0.9559 | None | gnomAD-3.1.2 | 1.97E-05 | |
22107 | 53 | R/K | 70 | rs548035555 | 0.9559 | None | 1000 genomes | 1.99681E-04 | |
22107 | 53 | R/K | 70 | rs548035555 | 0.9559 | None | gnomAD-4.0.0 | 5.12673E-06 | |
22109 | 55 | P/L | 75 | rs777960621 | 0.4285 | None | gnomAD-2.1.1 | 4.02E-06 | |
22109 | 55 | P/L | 75 | rs777960621 | 0.4285 | None | gnomAD-4.0.0 | 6.15947E-06 | |
22110 | 56 | I/T | 77 | None | 0.1903 | None | gnomAD-4.0.0 | 1.59213E-06 | |
22111 | 57 | I/K | 83 | rs374614550 | 0.6290 | None | gnomAD-2.1.1 | 8.05E-06 | |
22111 | 57 | I/K | 83 | rs374614550 | 0.6290 | None | gnomAD-4.0.0 | 1.095E-05 | |
22111 | 57 | I/T | 83 | rs374614550 | 0.6290 | None | gnomAD-4.0.0 | 4.10624E-06 | |
22111 | 57 | I/V | 83 | rs1453348748 | 0.6290 | None | gnomAD-2.1.1 | 4.02E-06 | |
22111 | 57 | I/V | 83 | rs1453348748 | 0.6290 | None | gnomAD-4.0.0 | 1.59211E-06 | |
22112 | 58 | E/Q | 88 | None | 0.6483 | None | gnomAD-4.0.0 | 1.59214E-06 | |
22113 | 59 | R/K | 89 | rs748719400 | 0.3632 | None | gnomAD-4.0.0 | 1.59217E-06 | |
22114 | 60 | T/I | 90 | rs1575927090 | 0.4125 | None | gnomAD-4.0.0 | 4.77649E-06 | |
22115 | 61 | L/F | 91 | rs371010572 | 0.2072 | None | gnomAD-2.1.1 | 3.19E-05 | |
22115 | 61 | L/F | 91 | rs371010572 | 0.2072 | None | gnomAD-3.1.2 | 1.32E-05 | |
22115 | 61 | L/F | 91 | rs371010572 | 0.2072 | None | gnomAD-4.0.0 | 3.84555E-06 | |
22117 | 63 | A/T | 93 | rs727505036 | 0.1032 | None | gnomAD-2.1.1 | 1.21494E-04 | |
22117 | 63 | A/T | 93 | rs727505036 | 0.1032 | None | gnomAD-3.1.2 | 1.97E-05 | |
22117 | 63 | A/T | 93 | rs727505036 | 0.1032 | None | gnomAD-4.0.0 | 2.54153E-05 | |
22118 | 64 | T/A | 94 | None | 0.5284 | None | gnomAD-4.0.0 | 1.59217E-06 | |
22118 | 64 | T/I | 94 | rs751985481 | 0.5284 | None | gnomAD-2.1.1 | 1.21E-05 | |
22119 | 65 | G/S | 96 | rs901951990 | 0.4567 | None | gnomAD-2.1.1 | 4.02E-06 | |
22120 | 66 | L/R | 97 | None | 0.1255 | None | gnomAD-4.0.0 | 1.59217E-06 | |
22121 | 67 | Q/P | 98 | rs1369743485 | 0.6273 | None | gnomAD-2.1.1 | 4.02E-06 | |
22121 | 67 | Q/R | 98 | rs1369743485 | 0.6273 | None | gnomAD-2.1.1 | 4.02E-06 | |
22121 | 67 | Q/R | 98 | rs1369743485 | 0.6273 | None | gnomAD-4.0.0 | 1.59219E-06 | |
22122 | 68 | E/K | 99 | rs764747244 | 0.5525 | None | gnomAD-2.1.1 | 8.05E-06 | |
22122 | 68 | E/K | 99 | rs764747244 | 0.5525 | None | gnomAD-3.1.2 | 6.58E-06 | |
22122 | 68 | E/K | 99 | rs764747244 | 0.5525 | None | gnomAD-4.0.0 | 1.0538E-05 | |
22122 | 68 | E/Q | 99 | rs764747244 | 0.5525 | None | gnomAD-4.0.0 | 6.84386E-07 | |
22124 | 70 | T/A | 102 | None | 0.1924 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22124 | 70 | T/I | 102 | rs1449457427 | 0.1924 | None | gnomAD-2.1.1 | 4.02E-06 | |
22124 | 70 | T/I | 102 | rs1449457427 | 0.1924 | None | gnomAD-4.0.0 | 2.73759E-06 | |
22125 | 71 | E/G | 103 | None | 0.2043 | None | gnomAD-4.0.0 | 1.59223E-06 | |
22125 | 71 | E/K | 103 | rs752675920 | 0.2043 | None | gnomAD-2.1.1 | 2.82E-05 | |
22125 | 71 | E/K | 103 | rs752675920 | 0.2043 | None | gnomAD-3.1.2 | 6.58E-06 | |
22125 | 71 | E/K | 103 | rs752675920 | 0.2043 | None | gnomAD-4.0.0 | 8.05873E-06 | |
22126 | 72 | Y/H | 104 | rs1447894010 | 0.1051 | None | gnomAD-2.1.1 | 4.02E-06 | |
22126 | 72 | Y/H | 104 | rs1447894010 | 0.1051 | None | gnomAD-4.0.0 | 8.21273E-06 | |
22127 | 73 | E/A | 105 | rs1289473781 | 0.2208 | None | gnomAD-2.1.1 | 4.02E-06 | |
22127 | 73 | E/A | 105 | rs1289473781 | 0.2208 | None | gnomAD-4.0.0 | 3.18454E-06 | |
22127 | 73 | E/D | 105 | rs1208330464 | 0.2208 | None | gnomAD-2.1.1 | 4.02E-06 | |
22127 | 73 | E/D | 105 | rs1208330464 | 0.2208 | None | gnomAD-4.0.0 | 1.59227E-06 | |
22128 | 74 | F/S | 106 | rs2047881254 | 0.1036 | None | gnomAD-4.0.0 | 3.18462E-06 | |
22129 | 75 | R/C | 107 | rs763729258 | 0.1612 | None | gnomAD-2.1.1 | 1.12691E-04 | |
22129 | 75 | R/C | 107 | rs763729258 | 0.1612 | None | gnomAD-3.1.2 | 2.63E-05 | |
22129 | 75 | R/C | 107 | rs763729258 | 0.1612 | None | gnomAD-4.0.0 | 4.89732E-05 | |
22129 | 75 | R/H | 107 | rs187257105 | 0.1612 | None | gnomAD-2.1.1 | 1.57232E-04 | |
22129 | 75 | R/H | 107 | rs187257105 | 0.1612 | None | gnomAD-3.1.2 | 5.26E-05 | |
22129 | 75 | R/H | 107 | rs187257105 | 0.1612 | None | gnomAD-4.0.0 | 5.88866E-05 | |
22130 | 76 | V/I | 108 | rs1227757855 | 0.0819 | None | gnomAD-4.0.0 | 1.36881E-06 | |
22130 | 76 | V/L | 108 | rs1227757855 | 0.0819 | None | gnomAD-2.1.1 | 2.41E-05 | |
22130 | 76 | V/L | 108 | rs1227757855 | 0.0819 | None | gnomAD-3.1.2 | 1.32E-05 | |
22130 | 76 | V/L | 108 | rs1227757855 | 0.0819 | None | gnomAD-4.0.0 | 1.36375E-05 | |
22131 | 77 | T/A | 109 | rs140842479 | 0.1733 | None | gnomAD-2.1.1 | 1.5006E-04 | |
22131 | 77 | T/A | 109 | rs140842479 | 0.1733 | None | gnomAD-3.1.2 | 4.60199E-04 | |
22131 | 77 | T/A | 109 | rs140842479 | 0.1733 | None | 1000 genomes | 1.59744E-03 | |
22131 | 77 | T/A | 109 | rs140842479 | 0.1733 | None | gnomAD-4.0.0 | 8.05776E-05 | |
22131 | 77 | T/I | 109 | rs1553626919 | 0.1733 | None | gnomAD-4.0.0 | 1.59236E-06 | |
22132 | 78 | A/P | 110 | rs2047876545 | 0.0952 | None | gnomAD-4.0.0 | 1.59237E-06 | |
22134 | 80 | N/K | 112 | None | 0.1075 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22135 | 81 | K/E | 113 | None | 0.8769 | None | gnomAD-4.0.0 | 2.40065E-06 | |
22136 | 82 | A/D | 114 | rs767451470 | 0.4432 | None | gnomAD-2.1.1 | 2.01E-05 | |
22136 | 82 | A/D | 114 | rs767451470 | 0.4432 | None | gnomAD-3.1.2 | 6.58E-06 | |
22136 | 82 | A/D | 114 | rs767451470 | 0.4432 | None | gnomAD-4.0.0 | 7.43893E-06 | |
22137 | 83 | G/A | 115 | None | 0.2248 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22137 | 83 | G/E | 115 | None | 0.2248 | None | gnomAD-4.0.0 | 4.80129E-06 | |
22137 | 83 | G/V | 115 | rs1405845871 | 0.2248 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22138 | 84 | P/S | 117 | rs759290401 | 0.5969 | None | gnomAD-2.1.1 | 4.02E-06 | |
22138 | 84 | P/S | 117 | rs759290401 | 0.5969 | None | gnomAD-4.0.0 | 1.59249E-06 | |
22139 | 85 | G/D | 118 | rs1559507734 | 0.2106 | None | gnomAD-4.0.0 | 8.21329E-06 | |
22139 | 85 | G/R | 118 | rs774227311 | 0.2106 | None | gnomAD-2.1.1 | 4.02E-06 | |
22139 | 85 | G/R | 118 | rs774227311 | 0.2106 | None | gnomAD-4.0.0 | 2.05331E-06 | |
22142 | 88 | S/N | 121 | rs771038770 | 0.1169 | None | gnomAD-2.1.1 | 4.03E-06 | |
22143 | 89 | D/N | 122 | None | 0.7599 | None | gnomAD-4.0.0 | 6.84453E-07 | |
22144 | 90 | A/T | 123 | rs183276016 | 0.2601 | None | gnomAD-2.1.1 | 2.71673E-04 | |
22144 | 90 | A/T | 123 | rs183276016 | 0.2601 | None | gnomAD-3.1.2 | 2.49878E-04 | |
22144 | 90 | A/T | 123 | rs183276016 | 0.2601 | None | gnomAD-4.0.0 | 4.64334E-04 | |
22145 | 91 | S/P | 124 | None | 0.1314 | None | gnomAD-4.0.0 | 1.5926E-06 | |
22145 | 91 | S/Y | 124 | None | 0.1314 | None | gnomAD-4.0.0 | 1.20032E-06 | |
22146 | 92 | K/E | 125 | rs2047865333 | 1.0068 | None | gnomAD-3.1.2 | 6.57E-06 | |
22146 | 92 | K/E | 125 | rs2047865333 | 1.0068 | None | gnomAD-4.0.0 | 6.57333E-06 | |
22147 | 93 | A/P | 126 | rs773148853 | 0.3103 | None | gnomAD-2.1.1 | 4.03E-06 | |
22147 | 93 | A/P | 126 | rs773148853 | 0.3103 | None | gnomAD-4.0.0 | 1.59268E-06 | |
22148 | 94 | A/T | 127 | rs794727433 | 0.1893 | None | gnomAD-2.1.1 | 2.01E-05 | |
22148 | 94 | A/T | 127 | rs794727433 | 0.1893 | None | gnomAD-3.1.2 | 6.57E-06 | |
22148 | 94 | A/T | 127 | rs794727433 | 0.1893 | None | gnomAD-4.0.0 | 9.91907E-06 | |
22151 | 97 | R/L | 131 | None | 0.6382 | None | gnomAD-4.0.0 | 6.8453E-07 | |
22151 | 97 | R/P | 131 | rs781750042 | 0.6382 | None | gnomAD-2.1.1 | 4.03E-06 | |
22151 | 97 | R/P | 131 | rs781750042 | 0.6382 | None | gnomAD-4.0.0 | 2.05359E-06 | |
22151 | 97 | R/Q | 131 | rs781750042 | 0.6382 | None | gnomAD-2.1.1 | 4.03E-06 | |
22151 | 97 | R/Q | 131 | rs781750042 | 0.6382 | None | gnomAD-3.1.2 | 6.58E-06 | |
22151 | 97 | R/Q | 131 | rs781750042 | 0.6382 | None | gnomAD-4.0.0 | 4.3399E-06 | |
22151 | 97 | R/W | 131 | rs748238939 | 0.6382 | None | gnomAD-2.1.1 | 1.61E-05 | |
22151 | 97 | R/W | 131 | rs748238939 | 0.6382 | None | gnomAD-4.0.0 | 1.02678E-05 | |
22152 | 98 | D/E | 132 | None | 0.5971 | None | gnomAD-4.0.0 | 1.59298E-06 |