10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
I | D | A | N | F | K | Q | T | H | V | V | R | A | G | A | S | I | R | L | F | I | A | Y | Q | G | R | P | T | P | T | A | V | W | S | K | P | D | S | N | L | S | L | R | A | D | I | H | T | T | D | S | F | S | T | L | T | V | E | N | C | N | R | N | D | A | G | K | Y | T | L | T | V | E | N | N | S | G | S | K | S | I | T | F | T | V | K | V | L | D | T | P | G | P | P | G | P | I | T | F | K | D | V | T | R | G | S | A | T | L | M | W | D | A | P | L | L | D | G | G | A | R | I | H | H | Y | V | V | E | K | R | E | A | S | R | R | S | W | Q | V | I | S | E | K | C | T | R | Q | I | F | K | V | N | D | L | A | E | G | V | P | Y | Y | F | R | V | S | A | V | N | E | Y | G | V | G | E | P | Y | E | M | P | E | P | I | V | A | T | E | Q |
I | D | A | N | F | K | Q | T | H | V | V | R | A | G | A | S | I | R | L | F | I | A | Y | Q | G | R | P | T | P | T | A | V | W | S | K | P | D | S | N | L | S | L | R | A | D | I | H | T | T | D | S | F | S | T | L | T | V | E | N | C | N | R | N | D | A | G | K | Y | T | L | T | V | E | N | N | S | G | S | K | S | I | T | F | T | V | K | V | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
30927 | 1 | I/K | 1 | rs531432790 | 0.7724 | None | gnomAD-2.1.1 | 6.31765E-04 | |
30927 | 1 | I/K | 1 | rs531432790 | 0.7724 | None | gnomAD-3.1.2 | 1.97166E-04 | |
30927 | 1 | I/K | 1 | rs531432790 | 0.7724 | None | 1000 genomes | 7.98722E-04 | |
30927 | 1 | I/K | 1 | rs531432790 | 0.7724 | None | gnomAD-4.0.0 | 3.22298E-04 | |
30927 | 1 | I/L | 1 | rs1416836304 | 0.7724 | None | gnomAD-3.1.2 | 6.57E-06 | |
30927 | 1 | I/L | 1 | rs1416836304 | 0.7724 | None | gnomAD-4.0.0 | 6.57091E-06 | |
30927 | 1 | I/M | 1 | None | 0.7724 | None | gnomAD-4.0.0 | 4.77716E-06 | |
30927 | 1 | I/T | 1 | None | 0.7724 | None | gnomAD-4.0.0 | 6.15957E-06 | |
30927 | 1 | I/V | 1 | rs1416836304 | 0.7724 | None | gnomAD-2.1.1 | 8.05E-06 | |
30927 | 1 | I/V | 1 | rs1416836304 | 0.7724 | None | gnomAD-4.0.0 | 3.18457E-06 | |
30928 | 2 | D/H | 2 | rs397517756 | 0.5562 | None | gnomAD-2.1.1 | 1.07216E-04 | |
30928 | 2 | D/H | 2 | rs397517756 | 0.5562 | None | gnomAD-3.1.2 | 1.51196E-04 | |
30928 | 2 | D/H | 2 | rs397517756 | 0.5562 | None | gnomAD-4.0.0 | 1.23979E-04 | |
30929 | 3 | A/T | 3 | rs1192451781 | 0.6430 | None | gnomAD-2.1.1 | 4.03E-06 | |
30929 | 3 | A/T | 3 | rs1192451781 | 0.6430 | None | gnomAD-4.0.0 | 6.37127E-06 | |
30931 | 5 | F/L | 7 | rs1210776511 | 0.2610 | None | gnomAD-2.1.1 | 7.15E-06 | |
30931 | 5 | F/L | 7 | rs1210776511 | 0.2610 | None | gnomAD-3.1.2 | 6.57E-06 | |
30931 | 5 | F/L | 7 | rs1210776511 | 0.2610 | None | gnomAD-4.0.0 | 1.5929E-06 | |
30933 | 7 | Q/H | 9 | rs1553532340 | 0.6637 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30933 | 7 | Q/P | 9 | None | 0.6637 | None | gnomAD-4.0.0 | 1.36915E-06 | |
30933 | 7 | Q/R | 9 | None | 0.6637 | None | gnomAD-4.0.0 | 1.36915E-06 | |
30934 | 8 | T/A | 11 | None | 0.3753 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30934 | 8 | T/I | 11 | rs774501308 | 0.3753 | None | gnomAD-2.1.1 | 4.03E-06 | |
30934 | 8 | T/I | 11 | rs774501308 | 0.3753 | None | gnomAD-4.0.0 | 1.36928E-06 | |
30935 | 9 | H/L | 13 | None | 0.3788 | None | gnomAD-4.0.0 | 1.59358E-06 | |
30935 | 9 | H/Q | 13 | None | 0.3788 | None | gnomAD-4.0.0 | 3.42314E-06 | |
30936 | 10 | V/I | 14 | rs200476500 | 0.5060 | None | gnomAD-2.1.1 | 7.25E-05 | |
30936 | 10 | V/I | 14 | rs200476500 | 0.5060 | None | gnomAD-3.1.2 | 7.23E-05 | |
30936 | 10 | V/I | 14 | rs200476500 | 0.5060 | None | gnomAD-4.0.0 | 1.80439E-04 | |
30939 | 13 | A/S | 23 | rs773375451 | 0.3056 | None | gnomAD-2.1.1 | 4.03E-06 | |
30939 | 13 | A/T | 23 | None | 0.3056 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30940 | 14 | G/E | 24 | rs770455196 | 0.3436 | None | gnomAD-2.1.1 | 4.03E-06 | |
30940 | 14 | G/E | 24 | rs770455196 | 0.3436 | None | gnomAD-4.0.0 | 1.36946E-06 | |
30941 | 15 | A/D | 25 | rs768960050 | 0.2737 | None | gnomAD-2.1.1 | 4.03E-06 | |
30941 | 15 | A/D | 25 | rs768960050 | 0.2737 | None | gnomAD-3.1.2 | 6.57E-06 | |
30941 | 15 | A/D | 25 | rs768960050 | 0.2737 | None | gnomAD-4.0.0 | 3.72075E-06 | |
30941 | 15 | A/G | 25 | None | 0.2737 | None | gnomAD-4.0.0 | 6.84735E-07 | |
30941 | 15 | A/T | 25 | rs777150584 | 0.2737 | None | gnomAD-2.1.1 | 1.61E-05 | |
30941 | 15 | A/T | 25 | rs777150584 | 0.2737 | None | gnomAD-3.1.2 | 1.31E-05 | |
30941 | 15 | A/T | 25 | rs777150584 | 0.2737 | None | gnomAD-4.0.0 | 1.61232E-05 | |
30942 | 16 | S/R | 26 | rs1575477437 | 0.2798 | None | gnomAD-4.0.0 | 6.84699E-07 | |
30943 | 17 | I/T | 28 | None | 0.1393 | None | gnomAD-4.0.0 | 1.59378E-06 | |
30944 | 18 | R/C | 29 | rs1393282264 | 0.6103 | None | gnomAD-2.1.1 | 4.03E-06 | |
30944 | 18 | R/C | 29 | rs1393282264 | 0.6103 | None | gnomAD-4.0.0 | 8.90155E-06 | |
30944 | 18 | R/H | 29 | rs755972883 | 0.6103 | None | gnomAD-2.1.1 | 1.21749E-04 | |
30944 | 18 | R/H | 29 | rs755972883 | 0.6103 | None | gnomAD-3.1.2 | 9.2E-05 | |
30944 | 18 | R/H | 29 | rs755972883 | 0.6103 | None | gnomAD-4.0.0 | 5.9536E-05 | |
30944 | 18 | R/S | 29 | rs1393282264 | 0.6103 | None | gnomAD-4.0.0 | 2.0542E-06 | |
30945 | 19 | L/F | 30 | None | 0.1175 | None | gnomAD-4.0.0 | 4.78217E-06 | |
30946 | 20 | F/L | 31 | rs1462805478 | 0.3893 | None | gnomAD-2.1.1 | 4.03E-06 | |
30946 | 20 | F/L | 31 | rs1462805478 | 0.3893 | None | gnomAD-4.0.0 | 1.36935E-06 | |
30946 | 20 | F/V | 31 | rs1462805478 | 0.3893 | None | gnomAD-2.1.1 | 3.19E-05 | |
30946 | 20 | F/V | 31 | rs1462805478 | 0.3893 | None | gnomAD-3.1.2 | 6.57E-06 | |
30946 | 20 | F/V | 31 | rs1462805478 | 0.3893 | None | gnomAD-4.0.0 | 6.5722E-06 | |
30947 | 21 | I/T | 33 | rs566234008 | 0.1727 | None | gnomAD-2.1.1 | 7.15E-06 | |
30947 | 21 | I/T | 33 | rs566234008 | 0.1727 | None | gnomAD-3.1.2 | 1.97E-05 | |
30947 | 21 | I/T | 33 | rs566234008 | 0.1727 | None | gnomAD-4.0.0 | 3.71998E-06 | |
30948 | 22 | A/D | 34 | None | 0.3297 | None | gnomAD-4.0.0 | 2.05387E-06 | |
30948 | 22 | A/V | 34 | None | 0.3297 | None | gnomAD-4.0.0 | 6.84625E-07 | |
30950 | 24 | Q/H | 38 | None | 1.0157 | None | gnomAD-4.0.0 | 7.20193E-06 | |
30951 | 25 | G/A | 40 | None | 0.3400 | None | gnomAD-4.0.0 | 6.84481E-07 | |
30951 | 25 | G/D | 40 | None | 0.3400 | None | gnomAD-4.0.0 | 6.84481E-07 | |
30951 | 25 | G/V | 40 | None | 0.3400 | None | gnomAD-4.0.0 | 6.84481E-07 | |
30953 | 27 | P/L | 42 | None | 0.4817 | None | gnomAD-4.0.0 | 1.59255E-06 | |
30954 | 28 | T/I | 43 | rs72648248 | 0.5599 | None | gnomAD-2.1.1 | 3.93E-05 | |
30954 | 28 | T/I | 43 | rs72648248 | 0.5599 | None | gnomAD-3.1.2 | 3.29E-05 | |
30954 | 28 | T/I | 43 | rs72648248 | 0.5599 | None | gnomAD-4.0.0 | 2.78922E-05 | |
30954 | 28 | T/S | 43 | rs778473278 | 0.5599 | None | gnomAD-2.1.1 | 2.01E-05 | |
30954 | 28 | T/S | 43 | rs778473278 | 0.5599 | None | gnomAD-3.1.2 | 6.58E-06 | |
30954 | 28 | T/S | 43 | rs778473278 | 0.5599 | None | gnomAD-4.0.0 | 5.57886E-06 | |
30955 | 29 | P/L | 44 | rs1371353912 | 0.1611 | None | gnomAD-2.1.1 | 4.02E-06 | |
30955 | 29 | P/L | 44 | rs1371353912 | 0.1611 | None | gnomAD-4.0.0 | 1.59213E-06 | |
30955 | 29 | P/T | 44 | rs1323009434 | 0.1611 | None | gnomAD-3.1.2 | 6.57E-06 | |
30955 | 29 | P/T | 44 | rs1323009434 | 0.1611 | None | gnomAD-4.0.0 | 3.84489E-06 | |
30957 | 31 | A/V | 46 | None | 0.2126 | None | gnomAD-4.0.0 | 6.84339E-07 | |
30960 | 34 | S/N | 49 | rs373494929 | 0.3788 | None | gnomAD-2.1.1 | 4.02E-06 | |
30960 | 34 | S/R | 49 | rs968631165 | 0.3788 | None | gnomAD-2.1.1 | 7.14E-06 | |
30960 | 34 | S/R | 49 | rs968631165 | 0.3788 | None | gnomAD-3.1.2 | 1.31E-05 | |
30960 | 34 | S/R | 49 | rs968631165 | 0.3788 | None | gnomAD-4.0.0 | 9.29632E-06 | |
30961 | 35 | K/Q | 50 | None | 0.1577 | None | gnomAD-4.0.0 | 4.78976E-06 | |
30961 | 35 | K/R | 50 | rs756055571 | 0.1577 | None | gnomAD-2.1.1 | 4.02E-06 | |
30961 | 35 | K/R | 50 | rs756055571 | 0.1577 | None | gnomAD-4.0.0 | 1.59149E-06 | |
30962 | 36 | P/A | 51 | None | 0.5829 | None | gnomAD-4.0.0 | 6.84261E-07 | |
30962 | 36 | P/S | 51 | None | 0.5829 | None | gnomAD-4.0.0 | 4.10557E-06 | |
30964 | 38 | S/A | 55 | rs752684712 | 0.2942 | None | gnomAD-2.1.1 | 3.62E-05 | |
30964 | 38 | S/A | 55 | rs752684712 | 0.2942 | None | gnomAD-3.1.2 | 6.57E-06 | |
30964 | 38 | S/A | 55 | rs752684712 | 0.2942 | None | gnomAD-4.0.0 | 1.15302E-05 | |
30966 | 40 | L/I | 58 | None | 0.1637 | None | gnomAD-4.0.0 | 3.18272E-06 | |
30966 | 40 | L/P | 58 | None | 0.1637 | None | gnomAD-4.0.0 | 1.59129E-06 | |
30967 | 41 | S/N | 69 | rs1249072254 | 0.5390 | None | gnomAD-4.0.0 | 4.80129E-06 | |
30967 | 41 | S/R | 69 | None | 0.5390 | None | gnomAD-4.0.0 | 3.4211E-06 | |
30969 | 43 | R/P | 73 | None | 0.2768 | None | gnomAD-4.0.0 | 6.84213E-07 | |
30969 | 43 | R/Q | 73 | rs751345368 | 0.2768 | None | gnomAD-2.1.1 | 8.04E-06 | |
30969 | 43 | R/Q | 73 | rs751345368 | 0.2768 | None | gnomAD-4.0.0 | 5.47371E-06 | |
30969 | 43 | R/W | 73 | rs754767262 | 0.2768 | None | gnomAD-2.1.1 | 1.21E-05 | |
30969 | 43 | R/W | 73 | rs754767262 | 0.2768 | None | gnomAD-3.1.2 | 6.57E-06 | |
30969 | 43 | R/W | 73 | rs754767262 | 0.2768 | None | gnomAD-4.0.0 | 1.54913E-05 | |
30970 | 44 | A/T | 102 | rs766530422 | 0.1670 | None | gnomAD-2.1.1 | 8.04E-06 | |
30970 | 44 | A/T | 102 | rs766530422 | 0.1670 | None | gnomAD-4.0.0 | 3.18245E-06 | |
30972 | 46 | I/S | 123 | rs773430543 | 0.2831 | None | gnomAD-2.1.1 | 4.02E-06 | |
30972 | 46 | I/S | 123 | rs773430543 | 0.2831 | None | gnomAD-4.0.0 | 3.18239E-06 | |
30973 | 47 | H/P | 125 | None | 0.6753 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30973 | 47 | H/Q | 125 | rs765351582 | 0.6753 | None | gnomAD-2.1.1 | 4.02E-06 | |
30973 | 47 | H/Q | 125 | rs765351582 | 0.6753 | None | gnomAD-4.0.0 | 6.84188E-07 | |
30974 | 48 | T/I | 127 | None | 0.3465 | None | gnomAD-4.0.0 | 1.59117E-06 | |
30975 | 49 | T/I | 130 | None | 0.1935 | None | gnomAD-4.0.0 | 6.84192E-07 | |
30975 | 49 | T/K | 130 | rs761971680 | 0.1935 | None | gnomAD-2.1.1 | 8.04E-06 | |
30975 | 49 | T/K | 130 | rs761971680 | 0.1935 | None | gnomAD-3.1.2 | 3.94E-05 | |
30975 | 49 | T/K | 130 | rs761971680 | 0.1935 | None | gnomAD-4.0.0 | 8.05575E-06 | |
30976 | 50 | D/E | 131 | None | 0.7002 | None | gnomAD-4.0.0 | 6.8419E-07 | |
30976 | 50 | D/N | 131 | rs777345218 | 0.7002 | None | gnomAD-2.1.1 | 7.14E-06 | |
30976 | 50 | D/N | 131 | rs777345218 | 0.7002 | None | gnomAD-3.1.2 | 1.31E-05 | |
30976 | 50 | D/N | 131 | rs777345218 | 0.7002 | None | gnomAD-4.0.0 | 5.12397E-06 | |
30976 | 50 | D/Y | 131 | None | 0.7002 | None | gnomAD-4.0.0 | 1.59117E-06 | |
30978 | 52 | F/L | 135 | None | 0.2300 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30979 | 53 | S/G | 136 | rs1169211686 | 0.0860 | None | gnomAD-2.1.1 | 7.14E-06 | |
30979 | 53 | S/G | 136 | rs1169211686 | 0.0860 | None | gnomAD-3.1.2 | 6.57E-06 | |
30979 | 53 | S/G | 136 | rs1169211686 | 0.0860 | None | gnomAD-4.0.0 | 6.57142E-06 | |
30979 | 53 | S/N | 136 | rs1430466843 | 0.0860 | None | gnomAD-2.1.1 | 4.02E-06 | |
30979 | 53 | S/N | 136 | rs1430466843 | 0.0860 | None | gnomAD-4.0.0 | 1.59117E-06 | |
30980 | 54 | T/N | 137 | None | 0.2141 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30981 | 55 | L/P | 138 | None | 0.0860 | None | gnomAD-4.0.0 | 7.52609E-06 | |
30984 | 58 | E/G | 141 | rs770525487 | 0.4188 | None | gnomAD-2.1.1 | 2.41E-05 | |
30984 | 58 | E/G | 141 | rs770525487 | 0.4188 | None | gnomAD-3.1.2 | 6.57E-06 | |
30984 | 58 | E/G | 141 | rs770525487 | 0.4188 | None | gnomAD-4.0.0 | 7.68584E-06 | |
30984 | 58 | E/K | 141 | rs775878805 | 0.4188 | None | gnomAD-2.1.1 | 1.21E-05 | |
30984 | 58 | E/K | 141 | rs775878805 | 0.4188 | None | gnomAD-4.0.0 | 7.95573E-06 | |
30985 | 59 | N/T | 143 | rs748877597 | 0.7300 | None | gnomAD-2.1.1 | 1.21E-05 | |
30985 | 59 | N/T | 143 | rs748877597 | 0.7300 | None | gnomAD-4.0.0 | 2.73676E-06 | |
30986 | 60 | C/R | 144 | None | 0.0815 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30986 | 60 | C/S | 144 | rs1181542972 | 0.0815 | None | gnomAD-2.1.1 | 4.02E-06 | |
30986 | 60 | C/S | 144 | rs1181542972 | 0.0815 | None | gnomAD-4.0.0 | 2.40064E-06 | |
30987 | 61 | N/S | 145 | rs2154147602 | 0.3060 | None | gnomAD-3.1.2 | 6.57E-06 | |
30987 | 61 | N/Y | 145 | None | 0.3060 | None | gnomAD-4.0.0 | 1.08029E-05 | |
30988 | 62 | R/K | 146 | None | 0.1330 | None | gnomAD-4.0.0 | 1.59116E-06 | |
30989 | 63 | N/I | 148 | rs755136924 | 0.5525 | None | gnomAD-2.1.1 | 4.02E-06 | |
30989 | 63 | N/I | 148 | rs755136924 | 0.5525 | None | gnomAD-3.1.2 | 1.31E-05 | |
30989 | 63 | N/I | 148 | rs755136924 | 0.5525 | None | gnomAD-4.0.0 | 1.31415E-05 | |
30989 | 63 | N/S | 148 | rs755136924 | 0.5525 | None | gnomAD-2.1.1 | 4.02E-06 | |
30989 | 63 | N/S | 148 | rs755136924 | 0.5525 | None | gnomAD-3.1.2 | 6.57E-06 | |
30989 | 63 | N/S | 148 | rs755136924 | 0.5525 | None | gnomAD-4.0.0 | 4.33765E-06 | |
30990 | 64 | D/E | 149 | rs781038013 | 0.1482 | None | gnomAD-2.1.1 | 4.02E-06 | |
30990 | 64 | D/E | 149 | rs781038013 | 0.1482 | None | gnomAD-4.0.0 | 1.59113E-06 | |
30990 | 64 | D/H | 149 | rs747622770 | 0.1482 | None | gnomAD-3.1.2 | 6.57E-06 | |
30990 | 64 | D/H | 149 | rs747622770 | 0.1482 | None | gnomAD-4.0.0 | 9.29525E-06 | |
30990 | 64 | D/N | 149 | rs747622770 | 0.1482 | None | gnomAD-2.1.1 | 4.02E-06 | |
30990 | 64 | D/N | 149 | rs747622770 | 0.1482 | None | gnomAD-4.0.0 | 6.84191E-07 | |
30990 | 64 | D/V | 149 | rs1206561468 | 0.1482 | None | gnomAD-2.1.1 | 4.02E-06 | |
30990 | 64 | D/V | 149 | rs1206561468 | 0.1482 | None | gnomAD-4.0.0 | 1.59113E-06 | |
30990 | 64 | D/Y | 149 | None | 0.1482 | None | gnomAD-4.0.0 | 1.36838E-06 | |
30991 | 65 | A/V | 151 | None | 0.2094 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30992 | 66 | G/R | 152 | rs1277609891 | 0.2548 | None | gnomAD-2.1.1 | 4.02E-06 | |
30992 | 66 | G/R | 152 | rs1277609891 | 0.2548 | None | gnomAD-4.0.0 | 1.59114E-06 | |
30993 | 67 | K/N | 153 | rs754893239 | 0.6866 | None | gnomAD-4.0.0 | 1.36836E-06 | |
30994 | 68 | Y/H | 154 | rs1698158751 | 0.1379 | None | gnomAD-4.0.0 | 6.8418E-07 | |
30994 | 68 | Y/N | 154 | None | 0.1379 | None | gnomAD-4.0.0 | 6.8418E-07 | |
30995 | 69 | T/N | 155 | rs886042408 | 0.2149 | None | gnomAD-2.1.1 | 8.05E-06 | |
30995 | 69 | T/N | 155 | rs886042408 | 0.2149 | None | gnomAD-3.1.2 | 1.97E-05 | |
30995 | 69 | T/N | 155 | rs886042408 | 0.2149 | None | gnomAD-4.0.0 | 8.96709E-06 | |
30996 | 70 | L/F | 156 | rs1698155054 | 0.0895 | None | gnomAD-4.0.0 | 1.20032E-06 | |
30996 | 70 | L/P | 156 | rs751341499 | 0.0895 | None | gnomAD-2.1.1 | 8.05E-06 | |
30996 | 70 | L/P | 156 | rs751341499 | 0.0895 | None | gnomAD-4.0.0 | 5.47345E-06 | |
30997 | 71 | T/I | 157 | rs981213729 | 0.2802 | None | gnomAD-2.1.1 | 4.03E-06 | |
30997 | 71 | T/I | 157 | rs981213729 | 0.2802 | None | gnomAD-4.0.0 | 6.15764E-06 | |
30998 | 72 | V/M | 158 | rs766129755 | 0.1810 | None | gnomAD-2.1.1 | 1.61E-05 | |
30998 | 72 | V/M | 158 | rs766129755 | 0.1810 | None | gnomAD-3.1.2 | 6.57E-06 | |
30998 | 72 | V/M | 158 | rs766129755 | 0.1810 | None | gnomAD-4.0.0 | 4.33773E-06 | |
31001 | 75 | N/D | 162 | None | 0.9287 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31001 | 75 | N/S | 162 | rs1308531791 | 0.9287 | None | gnomAD-2.1.1 | 4.03E-06 | |
31001 | 75 | N/S | 162 | rs1308531791 | 0.9287 | None | gnomAD-4.0.0 | 6.15761E-06 | |
31002 | 76 | S/I | 163 | rs180975448 | 0.7127 | None | gnomAD-2.1.1 | 6.25348E-04 | |
31002 | 76 | S/I | 163 | rs180975448 | 0.7127 | None | gnomAD-3.1.2 | 4.79796E-04 | |
31002 | 76 | S/I | 163 | rs180975448 | 0.7127 | None | 1000 genomes | 1.99681E-04 | |
31002 | 76 | S/I | 163 | rs180975448 | 0.7127 | None | gnomAD-4.0.0 | 8.25343E-04 | |
31002 | 76 | S/R | 163 | rs758706423 | 0.7127 | None | gnomAD-2.1.1 | 4.02E-06 | |
31003 | 77 | G/A | 164 | rs1698144956 | 0.3680 | None | gnomAD-3.1.2 | 6.57E-06 | |
31003 | 77 | G/A | 164 | rs1698144956 | 0.3680 | None | gnomAD-4.0.0 | 2.47872E-06 | |
31003 | 77 | G/S | 164 | rs765552665 | 0.3680 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31004 | 78 | S/N | 165 | rs762024916 | 0.4313 | None | gnomAD-2.1.1 | 2.01E-05 | |
31004 | 78 | S/N | 165 | rs762024916 | 0.4313 | None | gnomAD-4.0.0 | 7.52596E-06 | |
31005 | 79 | K/Q | 166 | None | 0.7859 | None | gnomAD-4.0.0 | 1.20032E-06 | |
31008 | 82 | T/R | 171 | rs1287048789 | 0.3085 | None | gnomAD-3.1.2 | 6.57E-06 | |
31008 | 82 | T/R | 171 | rs1287048789 | 0.3085 | None | gnomAD-4.0.0 | 6.57281E-06 | |
31011 | 85 | V/A | 174 | None | 0.1268 | None | gnomAD-4.0.0 | 1.59111E-06 | |
31011 | 85 | V/M | 174 | rs369206712 | 0.1268 | None | gnomAD-2.1.1 | 4.64E-05 | |
31011 | 85 | V/M | 174 | rs369206712 | 0.1268 | None | gnomAD-3.1.2 | 1.05183E-04 | |
31011 | 85 | V/M | 174 | rs369206712 | 0.1268 | None | gnomAD-4.0.0 | 2.66466E-05 | |
31012 | 86 | K/E | 175 | None | 0.6093 | None | gnomAD-4.0.0 | 1.59113E-06 | |
31012 | 86 | K/I | 175 | rs1698136089 | 0.6093 | None | gnomAD-3.1.2 | 6.57E-06 | |
31012 | 86 | K/I | 175 | rs1698136089 | 0.6093 | None | gnomAD-4.0.0 | 6.57212E-06 | |
31012 | 86 | K/N | 175 | None | 0.6093 | None | gnomAD-4.0.0 | 1.59112E-06 | |
31013 | 87 | V/A | 177 | rs775726229 | 0.1060 | None | gnomAD-2.1.1 | 4.02E-06 | |
31013 | 87 | V/A | 177 | rs775726229 | 0.1060 | None | gnomAD-3.1.2 | 6.58E-06 | |
31013 | 87 | V/A | 177 | rs775726229 | 0.1060 | None | gnomAD-4.0.0 | 6.57523E-06 | |
31013 | 87 | V/G | 177 | None | 0.1060 | None | gnomAD-4.0.0 | 3.18225E-06 | |
31013 | 87 | V/M | 177 | None | 0.1060 | None | gnomAD-4.0.0 | 3.18222E-06 |