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P | H | F | I | K | E | L | E | P | V | Q | S | A | I | N | K | K | V | H | L | E | C | Q | V | D | E | D | R | K | V | T | V | T | W | S | K | D | G | Q | K | L | P | P | G | K | D | Y | K | I | C | F | E | D | K | I | A | T | L | E | I | P | L | A | K | L | K | D | S | G | T | Y | V | C | T | A | S | N | E | A | G | S | S | S | C | S | A | T | V | T | V | R | E | P | P | S | F | V | K | K | V | D | P | S | Y | L | M | L | P | G | E | S | A | R | L | H | C | K | L | K | G | S | P | V | I | Q | V | T | W | F | K | N | N | K | E | L | S | E | S | N | T | V | R | M | Y | F | V | N | S | E | A | I | L | D | I | T | D | V | K | V | E | D | S | G | S | Y | S | C | E | A | V | N | D | V | G | S | D | S | C | S | T | E | I | V | I | K |
P | H | F | I | K | E | L | E | P | V | Q | S | A | I | N | K | K | V | H | L | E | C | Q | V | D | E | D | R | K | V | T | V | T | W | S | K | D | G | Q | K | L | P | P | G | K | D | Y | K | I | C | F | E | D | K | I | A | T | L | E | I | P | L | A | K | L | K | D | S | G | T | Y | V | C | T | A | S | N | E | A | G | S | S | S | C | S | A | T | V | T | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
4888 | 1 | P/A | 1 | rs376799249 | 0.2072 | None | gnomAD-2.1.1 | 5.72E-05 | |
4888 | 1 | P/A | 1 | rs376799249 | 0.2072 | None | gnomAD-3.1.2 | 5.26E-05 | |
4888 | 1 | P/A | 1 | rs376799249 | 0.2072 | None | gnomAD-4.0.0 | 1.38821E-04 | |
4888 | 1 | P/R | 1 | None | 0.2072 | None | gnomAD-4.0.0 | 1.59147E-06 | |
4888 | 1 | P/S | 1 | None | 0.2072 | None | gnomAD-3.1.2 | 6.57E-06 | |
4888 | 1 | P/S | 1 | None | 0.2072 | None | gnomAD-4.0.0 | 6.57246E-06 | |
4889 | 2 | H/R | 2 | rs766842583 | 0.7309 | None | gnomAD-2.1.1 | 4.03E-06 | |
4889 | 2 | H/R | 2 | rs766842583 | 0.7309 | None | gnomAD-4.0.0 | 2.73702E-06 | |
4889 | 2 | H/Y | 2 | None | 0.7309 | None | gnomAD-4.0.0 | 1.59151E-06 | |
4890 | 3 | F/L | 3 | None | 0.2261 | None | gnomAD-4.0.0 | 6.84262E-07 | |
4891 | 4 | I/L | 4 | rs1304712343 | 0.5977 | None | gnomAD-3.1.2 | 6.57E-06 | |
4891 | 4 | I/L | 4 | rs1304712343 | 0.5977 | None | gnomAD-4.0.0 | 6.56996E-06 | |
4891 | 4 | I/S | 4 | None | 0.5977 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4892 | 5 | K/E | 5 | rs1200349655 | 0.3608 | None | gnomAD-2.1.1 | 4.03E-06 | |
4892 | 5 | K/E | 5 | rs1200349655 | 0.3608 | None | gnomAD-3.1.2 | 6.57E-06 | |
4892 | 5 | K/E | 5 | rs1200349655 | 0.3608 | None | gnomAD-4.0.0 | 1.30139E-05 | |
4893 | 6 | E/D | 7 | rs761383226 | 0.6304 | None | gnomAD-2.1.1 | 8.05E-06 | |
4893 | 6 | E/D | 7 | rs761383226 | 0.6304 | None | gnomAD-4.0.0 | 9.549E-06 | |
4893 | 6 | E/K | 7 | None | 0.6304 | None | gnomAD-4.0.0 | 6.84258E-07 | |
4893 | 6 | E/Q | 7 | None | 0.6304 | None | gnomAD-4.0.0 | 6.84258E-07 | |
4895 | 8 | E/G | 9 | rs753337029 | 0.8701 | None | gnomAD-2.1.1 | 4.03E-06 | |
4895 | 8 | E/G | 9 | rs753337029 | 0.8701 | None | gnomAD-4.0.0 | 1.5915E-06 | |
4895 | 8 | E/Q | 9 | None | 0.8701 | None | gnomAD-4.0.0 | 1.36851E-06 | |
4896 | 9 | P/S | 11 | None | 0.5922 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4898 | 11 | Q/L | 14 | None | 0.6411 | None | gnomAD-4.0.0 | 1.59143E-06 | |
4898 | 11 | Q/R | 14 | rs763540495 | 0.6411 | None | gnomAD-2.1.1 | 4.02E-06 | |
4898 | 11 | Q/R | 14 | rs763540495 | 0.6411 | None | gnomAD-4.0.0 | 1.59143E-06 | |
4900 | 13 | A/P | 18 | rs72648923 | 0.1559 | None | gnomAD-2.1.1 | 4.02E-06 | |
4900 | 13 | A/P | 18 | rs72648923 | 0.1559 | None | gnomAD-4.0.0 | 1.36849E-06 | |
4900 | 13 | A/T | 18 | None | 0.1559 | None | gnomAD-2.1.1 | 3.78068E-03 | |
4900 | 13 | A/T | 18 | None | 0.1559 | None | gnomAD-3.1.2 | 3.20669E-03 | |
4900 | 13 | A/T | 18 | None | 0.1559 | None | 1000 genomes | 1.79712E-03 | |
4900 | 13 | A/T | 18 | None | 0.1559 | None | gnomAD-4.0.0 | 2.54745E-03 | |
4900 | 13 | A/V | 18 | rs771948633 | 0.1559 | None | gnomAD-2.1.1 | 8.93E-05 | |
4900 | 13 | A/V | 18 | rs771948633 | 0.1559 | None | gnomAD-3.1.2 | 6.57E-06 | |
4900 | 13 | A/V | 18 | rs771948633 | 0.1559 | None | gnomAD-4.0.0 | 1.36339E-05 | |
4901 | 14 | I/V | 23 | rs886038840 | 0.2404 | None | gnomAD-2.1.1 | 4.02E-06 | |
4901 | 14 | I/V | 23 | rs886038840 | 0.2404 | None | gnomAD-4.0.0 | 4.10536E-06 | |
4902 | 15 | N/H | 24 | rs1461011434 | 0.7729 | None | gnomAD-3.1.2 | 6.57E-06 | |
4902 | 15 | N/H | 24 | rs1461011434 | 0.7729 | None | gnomAD-4.0.0 | 6.56996E-06 | |
4902 | 15 | N/S | 24 | rs1208544617 | 0.7729 | None | gnomAD-3.1.2 | 6.57E-06 | |
4902 | 15 | N/S | 24 | rs1208544617 | 0.7729 | None | gnomAD-4.0.0 | 2.5621E-06 | |
4903 | 16 | K/N | 25 | rs1060500444 | 0.6334 | None | gnomAD-4.0.0 | 1.59139E-06 | |
4903 | 16 | K/R | 25 | None | 0.6334 | None | gnomAD-4.0.0 | 6.84229E-07 | |
4903 | 16 | K/T | 25 | None | 0.6334 | None | gnomAD-4.0.0 | 6.84229E-07 | |
4904 | 17 | K/E | 26 | None | 0.4588 | None | gnomAD-4.0.0 | 3.60097E-06 | |
4904 | 17 | K/R | 26 | rs1466517766 | 0.4588 | None | gnomAD-2.1.1 | 1.07E-05 | |
4904 | 17 | K/R | 26 | rs1466517766 | 0.4588 | None | gnomAD-3.1.2 | 6.57E-06 | |
4904 | 17 | K/R | 26 | rs1466517766 | 0.4588 | None | gnomAD-4.0.0 | 3.84316E-06 | |
4905 | 18 | V/D | 28 | None | 0.1729 | None | gnomAD-4.0.0 | 7.20193E-06 | |
4905 | 18 | V/I | 28 | rs774495507 | 0.1729 | None | gnomAD-2.1.1 | 4.02E-06 | |
4906 | 19 | H/L | 29 | rs2081328374 | 0.4266 | None | gnomAD-3.1.2 | 6.57E-06 | |
4906 | 19 | H/L | 29 | rs2081328374 | 0.4266 | None | gnomAD-4.0.0 | 6.57013E-06 | |
4906 | 19 | H/Q | 29 | rs192727802 | 0.4266 | None | 1000 genomes | 1.99681E-04 | |
4907 | 20 | L/F | 30 | None | 0.1426 | None | gnomAD-4.0.0 | 6.84227E-07 | |
4907 | 20 | L/I | 30 | rs2081327474 | 0.1426 | None | gnomAD-4.0.0 | 6.84227E-07 | |
4907 | 20 | L/P | 30 | None | 0.1426 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4909 | 22 | C/F | 33 | None | 0.0915 | None | gnomAD-4.0.0 | 6.84226E-07 | |
4909 | 22 | C/Y | 33 | rs188073989 | 0.0915 | None | gnomAD-4.0.0 | 6.84226E-07 | |
4911 | 24 | V/I | 35 | rs2081325701 | 0.1062 | None | gnomAD-4.0.0 | 3.4212E-06 | |
4912 | 25 | D/A | 38 | None | 0.3238 | None | gnomAD-4.0.0 | 1.36848E-06 | |
4912 | 25 | D/G | 38 | rs2081324623 | 0.3238 | None | gnomAD-4.0.0 | 2.05271E-06 | |
4912 | 25 | D/V | 38 | rs2081324623 | 0.3238 | None | gnomAD-3.1.2 | 6.57E-06 | |
4912 | 25 | D/V | 38 | rs2081324623 | 0.3238 | None | gnomAD-4.0.0 | 6.56961E-06 | |
4912 | 25 | D/Y | 38 | rs1177138515 | 0.3238 | None | gnomAD-4.0.0 | 4.78961E-06 | |
4916 | 29 | K/E | 43 | rs376597173 | 0.7516 | None | gnomAD-2.1.1 | 7.14E-05 | |
4916 | 29 | K/E | 43 | rs376597173 | 0.7516 | None | gnomAD-3.1.2 | 1.31403E-04 | |
4916 | 29 | K/E | 43 | rs376597173 | 0.7516 | None | gnomAD-4.0.0 | 1.1898E-04 | |
4917 | 30 | V/I | 44 | None | 0.1367 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4918 | 31 | T/I | 45 | rs749179515 | 0.5819 | None | gnomAD-2.1.1 | 4.02E-06 | |
4918 | 31 | T/I | 45 | rs749179515 | 0.5819 | None | gnomAD-4.0.0 | 4.77407E-06 | |
4920 | 33 | T/A | 47 | rs1178136076 | 0.3894 | None | gnomAD-2.1.1 | 4.02E-06 | |
4920 | 33 | T/A | 47 | rs1178136076 | 0.3894 | None | gnomAD-4.0.0 | 1.5913E-06 | |
4920 | 33 | T/K | 47 | rs371455094 | 0.3894 | None | gnomAD-2.1.1 | 4.02E-06 | |
4920 | 33 | T/K | 47 | rs371455094 | 0.3894 | None | gnomAD-4.0.0 | 6.84233E-07 | |
4920 | 33 | T/M | 47 | rs371455094 | 0.3894 | None | gnomAD-2.1.1 | 7.14E-05 | |
4920 | 33 | T/M | 47 | rs371455094 | 0.3894 | None | gnomAD-3.1.2 | 1.24908E-04 | |
4920 | 33 | T/M | 47 | rs371455094 | 0.3894 | None | gnomAD-4.0.0 | 4.02826E-05 | |
4921 | 34 | W/R | 48 | rs769723198 | 0.1436 | None | gnomAD-2.1.1 | 7.14E-06 | |
4921 | 34 | W/R | 48 | rs769723198 | 0.1436 | None | gnomAD-3.1.2 | 6.57E-06 | |
4921 | 34 | W/R | 48 | rs769723198 | 0.1436 | None | gnomAD-4.0.0 | 1.8591E-06 | |
4922 | 35 | S/N | 49 | rs184740744 | 0.1673 | None | gnomAD-2.1.1 | 5.31717E-03 | |
4922 | 35 | S/N | 49 | rs184740744 | 0.1673 | None | gnomAD-3.1.2 | 1.89924E-03 | |
4922 | 35 | S/N | 49 | rs184740744 | 0.1673 | None | 1000 genomes | 3.99361E-03 | |
4922 | 35 | S/N | 49 | rs184740744 | 0.1673 | None | gnomAD-4.0.0 | 1.27401E-03 | |
4922 | 35 | S/R | 49 | rs2081320760 | 0.1673 | None | gnomAD-4.0.0 | 1.59138E-06 | |
4923 | 36 | K/N | 50 | None | 0.1171 | None | gnomAD-4.0.0 | 1.59133E-06 | |
4924 | 37 | D/G | 51 | rs1560852223 | 0.5205 | None | gnomAD-4.0.0 | 1.36844E-06 | |
4924 | 37 | D/N | 51 | rs1330716005 | 0.5205 | None | gnomAD-3.1.2 | 6.57E-06 | |
4924 | 37 | D/N | 51 | rs1330716005 | 0.5205 | None | gnomAD-4.0.0 | 6.57117E-06 | |
4924 | 37 | D/V | 51 | rs1560852223 | 0.5205 | None | gnomAD-4.0.0 | 3.4211E-06 | |
4925 | 38 | G/A | 52 | None | 0.5423 | None | gnomAD-4.0.0 | 1.59138E-06 | |
4926 | 39 | Q/P | 55 | rs751919672 | 0.7945 | None | gnomAD-2.1.1 | 4.02E-06 | |
4927 | 40 | K/N | 56 | rs780599464 | 0.6116 | None | gnomAD-2.1.1 | 8.05E-06 | |
4927 | 40 | K/N | 56 | rs780599464 | 0.6116 | None | gnomAD-4.0.0 | 6.84233E-07 | |
4928 | 41 | L/F | 58 | rs758924238 | 0.1619 | None | gnomAD-2.1.1 | 8.05E-06 | |
4928 | 41 | L/F | 58 | rs758924238 | 0.1619 | None | gnomAD-4.0.0 | 3.42118E-06 | |
4928 | 41 | L/R | 58 | rs1347273297 | 0.1619 | None | gnomAD-4.0.0 | 3.18286E-06 | |
4929 | 42 | P/A | 59 | rs2081317152 | 0.5314 | None | gnomAD-3.1.2 | 6.57E-06 | |
4929 | 42 | P/A | 59 | rs2081317152 | 0.5314 | None | gnomAD-4.0.0 | 6.57229E-06 | |
4929 | 42 | P/S | 59 | None | 0.5314 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4930 | 43 | P/A | 70 | rs201744218 | 0.6225 | None | gnomAD-2.1.1 | 1.00026E-04 | |
4930 | 43 | P/A | 70 | rs201744218 | 0.6225 | None | gnomAD-3.1.2 | 1.1177E-04 | |
4930 | 43 | P/A | 70 | rs201744218 | 0.6225 | None | gnomAD-4.0.0 | 3.96638E-05 | |
4930 | 43 | P/L | 70 | None | 0.6225 | None | gnomAD-4.0.0 | 1.59153E-06 | |
4930 | 43 | P/T | 70 | rs201744218 | 0.6225 | None | gnomAD-2.1.1 | 1.46466E-04 | |
4930 | 43 | P/T | 70 | rs201744218 | 0.6225 | None | gnomAD-3.1.2 | 4.86522E-04 | |
4930 | 43 | P/T | 70 | rs201744218 | 0.6225 | None | 1000 genomes | 1.99681E-04 | |
4930 | 43 | P/T | 70 | rs201744218 | 0.6225 | None | gnomAD-4.0.0 | 1.0411E-04 | |
4931 | 44 | G/R | 73 | rs767070682 | 0.4071 | None | gnomAD-2.1.1 | 8.05E-06 | |
4931 | 44 | G/R | 73 | rs767070682 | 0.4071 | None | gnomAD-4.0.0 | 3.18289E-06 | |
4932 | 45 | K/R | 111 | None | 1.1288 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4933 | 46 | D/Y | 115 | rs984284016 | 0.6626 | None | gnomAD-2.1.1 | 4.02E-06 | |
4933 | 46 | D/Y | 115 | rs984284016 | 0.6626 | None | gnomAD-3.1.2 | 6.57E-06 | |
4933 | 46 | D/Y | 115 | rs984284016 | 0.6626 | None | gnomAD-4.0.0 | 6.57056E-06 | |
4934 | 47 | Y/C | 121 | None | 0.3136 | None | gnomAD-4.0.0 | 2.05274E-06 | |
4934 | 47 | Y/D | 121 | rs2081313340 | 0.3136 | None | gnomAD-3.1.2 | 6.57E-06 | |
4934 | 47 | Y/D | 121 | rs2081313340 | 0.3136 | None | gnomAD-4.0.0 | 6.57134E-06 | |
4934 | 47 | Y/H | 121 | None | 0.3136 | None | gnomAD-4.0.0 | 1.59148E-06 | |
4935 | 48 | K/E | 122 | rs759432239 | 0.4877 | None | gnomAD-2.1.1 | 8.05E-06 | |
4935 | 48 | K/E | 122 | rs759432239 | 0.4877 | None | gnomAD-4.0.0 | 4.77445E-06 | |
4936 | 49 | I/M | 123 | None | 0.2356 | None | gnomAD-4.0.0 | 6.8426E-07 | |
4938 | 51 | F/C | 127 | None | 0.2953 | None | gnomAD-4.0.0 | 1.36856E-06 | |
4938 | 51 | F/S | 127 | rs560537668 | 0.2953 | None | gnomAD-2.1.1 | 9.26E-05 | |
4938 | 51 | F/S | 127 | rs560537668 | 0.2953 | None | gnomAD-3.1.2 | 1.18255E-04 | |
4938 | 51 | F/S | 127 | rs560537668 | 0.2953 | None | 1000 genomes | 1.99681E-04 | |
4938 | 51 | F/S | 127 | rs560537668 | 0.2953 | None | gnomAD-4.0.0 | 9.48119E-05 | |
4939 | 52 | E/D | 130 | None | 0.7406 | None | gnomAD-4.0.0 | 1.59166E-06 | |
4939 | 52 | E/Q | 130 | rs2081311155 | 0.7406 | None | gnomAD-3.1.2 | 6.57E-06 | |
4939 | 52 | E/Q | 130 | rs2081311155 | 0.7406 | None | gnomAD-4.0.0 | 6.57134E-06 | |
4940 | 53 | D/H | 131 | rs763015586 | 0.9698 | None | gnomAD-3.1.2 | 6.57E-06 | |
4940 | 53 | D/H | 131 | rs763015586 | 0.9698 | None | gnomAD-4.0.0 | 6.57039E-06 | |
4940 | 53 | D/N | 131 | rs763015586 | 0.9698 | None | gnomAD-2.1.1 | 4.03E-06 | |
4940 | 53 | D/N | 131 | rs763015586 | 0.9698 | None | gnomAD-4.0.0 | 1.36858E-06 | |
4941 | 54 | K/T | 134 | None | 0.1654 | None | gnomAD-4.0.0 | 1.36856E-06 | |
4942 | 55 | I/T | 135 | rs773235984 | 0.3386 | None | gnomAD-2.1.1 | 4.03E-06 | |
4942 | 55 | I/T | 135 | rs773235984 | 0.3386 | None | gnomAD-3.1.2 | 6.57E-06 | |
4942 | 55 | I/T | 135 | rs773235984 | 0.3386 | None | gnomAD-4.0.0 | 3.84408E-06 | |
4943 | 56 | A/E | 136 | rs540497678 | 0.1022 | None | gnomAD-2.1.1 | 7.65E-05 | |
4943 | 56 | A/E | 136 | rs540497678 | 0.1022 | None | gnomAD-3.1.2 | 2.63E-05 | |
4943 | 56 | A/E | 136 | rs540497678 | 0.1022 | None | 1000 genomes | 1.99681E-04 | |
4943 | 56 | A/E | 136 | rs540497678 | 0.1022 | None | gnomAD-4.0.0 | 3.5944E-05 | |
4943 | 56 | A/G | 136 | rs540497678 | 0.1022 | None | gnomAD-2.1.1 | 3.18E-05 | |
4943 | 56 | A/T | 136 | rs2081309584 | 0.1022 | None | gnomAD-3.1.2 | 6.57E-06 | |
4943 | 56 | A/T | 136 | rs2081309584 | 0.1022 | None | gnomAD-4.0.0 | 3.84427E-06 | |
4944 | 57 | T/A | 137 | rs1479138931 | 0.2304 | None | gnomAD-4.0.0 | 1.02647E-05 | |
4944 | 57 | T/I | 137 | None | 0.2304 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4945 | 58 | L/P | 138 | None | 0.0792 | None | gnomAD-4.0.0 | 1.5918E-06 | |
4945 | 58 | L/V | 138 | None | 0.0792 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4946 | 59 | E/D | 139 | rs1169291552 | 0.2226 | None | gnomAD-4.0.0 | 4.77567E-06 | |
4946 | 59 | E/K | 139 | rs2081307227 | 0.2226 | None | gnomAD-4.0.0 | 2.053E-06 | |
4947 | 60 | I/T | 140 | None | 0.1886 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4949 | 62 | L/F | 143 | rs370996177 | 1.2486 | None | gnomAD-2.1.1 | 3.18E-05 | |
4949 | 62 | L/F | 143 | rs370996177 | 1.2486 | None | gnomAD-3.1.2 | 1.97E-05 | |
4949 | 62 | L/F | 143 | rs370996177 | 1.2486 | None | gnomAD-4.0.0 | 1.97189E-05 | |
4949 | 62 | L/V | 143 | None | 1.2486 | None | gnomAD-4.0.0 | 6.84358E-07 | |
4951 | 64 | K/R | 145 | rs1235893686 | 0.4494 | None | gnomAD-2.1.1 | 4.03E-06 | |
4951 | 64 | K/R | 145 | rs1235893686 | 0.4494 | None | gnomAD-4.0.0 | 2.05335E-06 | |
4952 | 65 | L/M | 146 | rs781546825 | 0.4800 | None | gnomAD-2.1.1 | 4.04E-06 | |
4954 | 67 | D/H | 149 | rs1443901302 | 0.1862 | None | gnomAD-4.0.0 | 1.59309E-06 | |
4954 | 67 | D/Y | 149 | rs1443901302 | 0.1862 | None | gnomAD-2.1.1 | 4.04E-06 | |
4954 | 67 | D/Y | 149 | rs1443901302 | 0.1862 | None | gnomAD-4.0.0 | 1.5931E-06 | |
4955 | 68 | S/L | 151 | None | 0.2287 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4956 | 69 | G/E | 152 | rs747180511 | 0.1753 | None | gnomAD-2.1.1 | 2.02E-05 | |
4956 | 69 | G/E | 152 | rs747180511 | 0.1753 | None | gnomAD-3.1.2 | 6.57E-06 | |
4956 | 69 | G/E | 152 | rs747180511 | 0.1753 | None | gnomAD-4.0.0 | 1.05391E-05 | |
4956 | 69 | G/R | 152 | rs768749718 | 0.1753 | None | gnomAD-2.1.1 | 2.02E-05 | |
4956 | 69 | G/R | 152 | rs768749718 | 0.1753 | None | gnomAD-3.1.2 | 1.97E-05 | |
4956 | 69 | G/R | 152 | rs768749718 | 0.1753 | None | gnomAD-4.0.0 | 2.73824E-06 | |
4957 | 70 | T/A | 153 | rs780405420 | 0.3915 | None | gnomAD-2.1.1 | 4.04E-06 | |
4957 | 70 | T/A | 153 | rs780405420 | 0.3915 | None | gnomAD-4.0.0 | 1.36918E-06 | |
4957 | 70 | T/I | 153 | rs72648925 | 0.3915 | None | gnomAD-2.1.1 | 1.21E-05 | |
4957 | 70 | T/I | 153 | rs72648925 | 0.3915 | None | gnomAD-3.1.2 | 6.57E-06 | |
4957 | 70 | T/I | 153 | rs72648925 | 0.3915 | None | gnomAD-4.0.0 | 2.7901E-05 | |
4957 | 70 | T/P | 153 | None | 0.3915 | None | gnomAD-2.1.1 | 1.07562E-04 | |
4957 | 70 | T/P | 153 | None | 0.3915 | None | gnomAD-3.1.2 | 1.37994E-04 | |
4957 | 70 | T/P | 153 | None | 0.3915 | None | gnomAD-4.0.0 | 9.36197E-05 | |
4957 | 70 | T/S | 153 | rs72648925 | 0.3915 | None | gnomAD-2.1.1 | 2.83993E-03 | |
4957 | 70 | T/S | 153 | rs72648925 | 0.3915 | None | gnomAD-3.1.2 | 2.87183E-03 | |
4957 | 70 | T/S | 153 | rs72648925 | 0.3915 | None | 1000 genomes | 1.79712E-03 | |
4957 | 70 | T/S | 153 | rs72648925 | 0.3915 | None | gnomAD-4.0.0 | 2.98458E-03 | |
4958 | 71 | Y/C | 154 | rs530572005 | 0.1423 | None | gnomAD-2.1.1 | 1.62E-05 | |
4958 | 71 | Y/C | 154 | rs530572005 | 0.1423 | None | gnomAD-3.1.2 | 1.97E-05 | |
4958 | 71 | Y/C | 154 | rs530572005 | 0.1423 | None | gnomAD-4.0.0 | 4.09261E-05 | |
4958 | 71 | Y/H | 154 | None | 0.1423 | None | gnomAD-4.0.0 | 2.40064E-06 | |
4960 | 73 | C/G | 156 | rs879004875 | 0.0732 | None | gnomAD-2.1.1 | 8.11E-06 | |
4960 | 73 | C/G | 156 | rs879004875 | 0.0732 | None | gnomAD-3.1.2 | 1.31E-05 | |
4960 | 73 | C/G | 156 | rs879004875 | 0.0732 | None | gnomAD-4.0.0 | 7.44486E-06 | |
4960 | 73 | C/R | 156 | rs879004875 | 0.0732 | None | gnomAD-4.0.0 | 4.79572E-06 | |
4960 | 73 | C/Y | 156 | None | 0.0732 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4961 | 74 | T/I | 157 | rs1298192031 | 0.2805 | None | gnomAD-2.1.1 | 4.06E-06 | |
4961 | 74 | T/I | 157 | rs1298192031 | 0.2805 | None | gnomAD-4.0.0 | 1.59675E-06 | |
4961 | 74 | T/R | 157 | None | 0.2805 | None | gnomAD-4.0.0 | 1.59675E-06 | |
4962 | 75 | A/S | 158 | rs957102154 | 0.1081 | None | gnomAD-2.1.1 | 2.04E-05 | |
4962 | 75 | A/S | 158 | rs957102154 | 0.1081 | None | gnomAD-4.0.0 | 5.49119E-06 | |
4962 | 75 | A/T | 158 | None | 0.1081 | None | gnomAD-4.0.0 | 6.86399E-07 | |
4962 | 75 | A/V | 158 | None | 0.1081 | None | gnomAD-4.0.0 | 2.05935E-06 | |
4963 | 76 | S/P | 159 | rs754692297 | 0.2427 | None | gnomAD-2.1.1 | 4.11E-06 | |
4963 | 76 | S/P | 159 | rs754692297 | 0.2427 | None | gnomAD-4.0.0 | 4.81869E-06 | |
4965 | 78 | E/K | 162 | rs2081295922 | 0.8978 | None | gnomAD-4.0.0 | 2.06523E-06 | |
4967 | 80 | G/A | 164 | None | 0.3553 | None | gnomAD-4.0.0 | 1.62461E-06 | |
4967 | 80 | G/R | 164 | rs267599070 | 0.3553 | None | gnomAD-2.1.1 | 4.21E-06 | |
4967 | 80 | G/R | 164 | rs267599070 | 0.3553 | None | gnomAD-4.0.0 | 3.24923E-06 | |
4968 | 81 | S/G | 165 | rs762238210 | 0.6122 | None | gnomAD-4.0.0 | 1.10435E-05 | |
4968 | 81 | S/N | 165 | rs1165201342 | 0.6122 | None | gnomAD-2.1.1 | 4.21E-06 | |
4968 | 81 | S/N | 165 | rs1165201342 | 0.6122 | None | gnomAD-4.0.0 | 1.62688E-06 | |
4969 | 82 | S/G | 166 | None | 0.2149 | None | gnomAD-4.0.0 | 1.63519E-06 | |
4969 | 82 | S/N | 166 | rs762810073 | 0.2149 | None | gnomAD-2.1.1 | 8.54E-06 | |
4969 | 82 | S/N | 166 | rs762810073 | 0.2149 | None | gnomAD-4.0.0 | 1.63777E-06 | |
4970 | 83 | S/F | 168 | rs1418301543 | 0.4670 | None | gnomAD-2.1.1 | 4.28E-06 | |
4970 | 83 | S/F | 168 | rs1418301543 | 0.4670 | None | gnomAD-3.1.2 | 1.31E-05 | |
4970 | 83 | S/F | 168 | rs1418301543 | 0.4670 | None | gnomAD-4.0.0 | 1.31935E-05 | |
4971 | 84 | C/G | 169 | rs537312655 | 0.1216 | None | gnomAD-2.1.1 | 3.97851E-04 | |
4971 | 84 | C/G | 169 | rs537312655 | 0.1216 | None | gnomAD-3.1.2 | 4.13929E-04 | |
4971 | 84 | C/G | 169 | rs537312655 | 0.1216 | None | gnomAD-4.0.0 | 1.16669E-04 | |
4972 | 85 | S/L | 171 | rs868769069 | 0.4723 | None | gnomAD-4.0.0 | 6.94348E-07 | |
4973 | 86 | A/T | 172 | None | 0.1442 | None | gnomAD-4.0.0 | 1.20032E-06 | |
4975 | 88 | V/D | 174 | rs2081290563 | 0.1343 | None | gnomAD-4.0.0 | 1.67158E-06 | |
4976 | 89 | T/I | 175 | None | 0.3905 | None | gnomAD-4.0.0 | 7.01756E-07 | |
4977 | 90 | V/A | 178 | None | 0.1531 | None | gnomAD-4.0.0 | 7.03072E-07 |