10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
R | G | I | P | P | K | I | E | A | L | P | S | D | I | S | I | D | E | G | K | V | L | T | V | A | C | A | F | T | G | E | P | T | P | E | V | T | W | S | C | G | G | R | K | I | H | S | Q | E | Q | G | R | F | H | I | E | N | T | D | D | L | T | T | L | I | I | M | D | V | Q | K | Q | D | G | G | L | Y | T | L | S | L | G | N | E | F | G | S | D | S | A | T | V | N | I | H | I | R | S | I |
- | - | - | - | P | K | I | E | A | L | P | S | D | I | S | I | D | E | G | K | V | L | T | V | A | C | A | F | T | G | E | P | T | P | E | V | T | W | S | C | G | G | R | K | I | H | S | Q | E | Q | G | R | F | H | I | E | N | T | D | D | L | T | T | L | I | I | M | D | V | Q | K | Q | D | G | G | L | Y | T | L | S | L | G | N | E | F | G | S | D | S | A | T | V | N | I | H | - | - | - | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
35897 | 1 | P/L | 1 | rs1558956138 | 0.1022 | None | gnomAD-4.0.0 | 1.64727E-06 | |
35897 | 1 | P/S | 1 | rs1270719592 | 0.1022 | None | gnomAD-4.0.0 | 3.29856E-06 | |
35898 | 2 | K/E | 2 | rs1028436080 | 0.2773 | None | gnomAD-2.1.1 | 1.28E-05 | |
35898 | 2 | K/E | 2 | rs1028436080 | 0.2773 | None | gnomAD-3.1.2 | 1.97E-05 | |
35898 | 2 | K/E | 2 | rs1028436080 | 0.2773 | None | gnomAD-4.0.0 | 7.88915E-06 | |
35898 | 2 | K/I | 2 | rs774242716 | 0.2773 | None | gnomAD-2.1.1 | 1.89E-05 | |
35898 | 2 | K/I | 2 | rs774242716 | 0.2773 | None | gnomAD-3.1.2 | 1.31E-05 | |
35898 | 2 | K/I | 2 | rs774242716 | 0.2773 | None | gnomAD-4.0.0 | 2.23475E-05 | |
35899 | 3 | I/T | 3 | rs372276487 | 0.0966 | None | gnomAD-2.1.1 | 3.01E-05 | |
35899 | 3 | I/T | 3 | rs372276487 | 0.0966 | None | gnomAD-3.1.2 | 6.57E-05 | |
35899 | 3 | I/T | 3 | rs372276487 | 0.0966 | None | gnomAD-4.0.0 | 1.94414E-05 | |
35901 | 5 | A/V | 5 | None | nan | None | gnomAD-4.0.0 | 1.6349E-06 | |
35902 | 6 | L/P | 7 | None | 0.1496 | None | gnomAD-4.0.0 | 6.90771E-07 | |
35903 | 7 | P/S | 8 | rs1328551203 | 0.1434 | None | gnomAD-2.1.1 | 4.17E-06 | |
35903 | 7 | P/S | 8 | rs1328551203 | 0.1434 | None | gnomAD-4.0.0 | 1.62802E-06 | |
35905 | 9 | D/G | 11 | rs1558955826 | 0.3052 | None | gnomAD-2.1.1 | 4.07E-06 | |
35905 | 9 | D/G | 11 | rs1558955826 | 0.3052 | None | gnomAD-4.0.0 | 1.60915E-06 | |
35906 | 10 | I/N | 13 | None | 0.0927 | None | gnomAD-4.0.0 | 6.8735E-07 | |
35907 | 11 | S/I | 14 | rs773833357 | 0.1788 | None | gnomAD-2.1.1 | 1.22E-05 | |
35907 | 11 | S/I | 14 | rs773833357 | 0.1788 | None | gnomAD-4.0.0 | 8.02409E-06 | |
35907 | 11 | S/R | 14 | rs977991321 | 0.1788 | None | gnomAD-2.1.1 | 7.2E-06 | |
35907 | 11 | S/R | 14 | rs977991321 | 0.1788 | None | gnomAD-3.1.2 | 6.57E-06 | |
35907 | 11 | S/R | 14 | rs977991321 | 0.1788 | None | gnomAD-4.0.0 | 9.32589E-06 | |
35908 | 12 | I/L | 16 | None | 0.0763 | None | gnomAD-4.0.0 | 8.92808E-06 | |
35908 | 12 | I/M | 16 | None | 0.0763 | None | gnomAD-4.0.0 | 2.05723E-06 | |
35908 | 12 | I/T | 16 | rs769141222 | 0.0763 | None | gnomAD-2.1.1 | 2.87E-05 | |
35908 | 12 | I/T | 16 | rs769141222 | 0.0763 | None | gnomAD-3.1.2 | 1.31E-05 | |
35908 | 12 | I/T | 16 | rs769141222 | 0.0763 | None | gnomAD-4.0.0 | 6.20981E-05 | |
35909 | 13 | D/E | 18 | rs1401685434 | 0.2383 | None | gnomAD-3.1.2 | 1.31E-05 | |
35909 | 13 | D/E | 18 | rs1401685434 | 0.2383 | None | gnomAD-4.0.0 | 3.04467E-06 | |
35910 | 14 | E/K | 23 | rs370649675 | 0.4448 | None | gnomAD-2.1.1 | 1.21E-05 | |
35910 | 14 | E/K | 23 | rs370649675 | 0.4448 | None | gnomAD-3.1.2 | 3.94E-05 | |
35910 | 14 | E/K | 23 | rs370649675 | 0.4448 | None | 1000 genomes | 1.99681E-04 | |
35910 | 14 | E/K | 23 | rs370649675 | 0.4448 | None | gnomAD-4.0.0 | 6.82594E-06 | |
35911 | 15 | G/V | 24 | rs1194972445 | 0.2137 | None | gnomAD-3.1.2 | 6.57E-06 | |
35911 | 15 | G/V | 24 | rs1194972445 | 0.2137 | None | gnomAD-4.0.0 | 6.57358E-06 | |
35913 | 17 | V/A | 26 | rs771568319 | 0.1568 | None | gnomAD-2.1.1 | 1.61E-05 | |
35913 | 17 | V/A | 26 | rs771568319 | 0.1568 | None | gnomAD-4.0.0 | 6.37144E-06 | |
35913 | 17 | V/F | 26 | rs1468593257 | 0.1568 | None | gnomAD-2.1.1 | 4.03E-06 | |
35913 | 17 | V/F | 26 | rs1468593257 | 0.1568 | None | gnomAD-4.0.0 | 1.59292E-06 | |
35913 | 17 | V/I | 26 | None | 0.1568 | None | gnomAD-4.0.0 | 1.59292E-06 | |
35913 | 17 | V/L | 26 | rs1468593257 | 0.1568 | None | gnomAD-3.1.2 | 6.57E-06 | |
35913 | 17 | V/L | 26 | rs1468593257 | 0.1568 | None | gnomAD-4.0.0 | 6.57056E-06 | |
35915 | 19 | T/K | 29 | rs768221453 | 0.1323 | None | gnomAD-4.0.0 | 3.18428E-06 | |
35915 | 19 | T/P | 29 | None | 0.1323 |
TMD |
Literature | None | |
35915 | 19 | T/P | 29 | None | 0.1323 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35916 | 20 | V/L | 30 | rs1686792927 | 0.1559 | None | gnomAD-4.0.0 | 7.20193E-06 | |
35917 | 21 | A/V | 31 | rs1439320895 | 0.0988 | None | gnomAD-2.1.1 | 4.03E-06 | |
35918 | 22 | C/S | 33 | rs1053743149 | 0.0933 | None | gnomAD-3.1.2 | 6.57E-06 | |
35918 | 22 | C/S | 33 | rs1053743149 | 0.0933 | None | gnomAD-4.0.0 | 6.57056E-06 | |
35918 | 22 | C/Y | 33 | rs193212275 | 0.0933 | None | gnomAD-2.1.1 | 9.64E-05 | |
35918 | 22 | C/Y | 33 | rs193212275 | 0.0933 | None | gnomAD-3.1.2 | 2.82534E-04 | |
35918 | 22 | C/Y | 33 | rs193212275 | 0.0933 | None | 1000 genomes | 3.99361E-04 | |
35918 | 22 | C/Y | 33 | rs193212275 | 0.0933 | None | gnomAD-4.0.0 | 5.08117E-05 | |
35921 | 25 | T/K | 38 | rs749277200 | 0.2951 | None | gnomAD-4.0.0 | 6.84226E-07 | |
35921 | 25 | T/M | 38 | rs749277200 | 0.2951 | None | gnomAD-2.1.1 | 4.02E-06 | |
35921 | 25 | T/M | 38 | rs749277200 | 0.2951 | None | gnomAD-4.0.0 | 6.84226E-06 | |
35922 | 26 | G/S | 40 | None | 0.1352 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35923 | 27 | E/A | 41 | rs2154129939 | 0.3260 | None | gnomAD-4.0.0 | 4.77332E-06 | |
35923 | 27 | E/D | 41 | None | 0.3260 | None | gnomAD-4.0.0 | 1.59116E-06 | |
35924 | 28 | P/A | 42 | rs752429003 | 0.2776 | None | gnomAD-2.1.1 | 4.02E-06 | |
35924 | 28 | P/A | 42 | rs752429003 | 0.2776 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35925 | 29 | T/A | 43 | rs781497669 | 0.2845 | None | gnomAD-2.1.1 | 2.41E-05 | |
35925 | 29 | T/A | 43 | rs781497669 | 0.2845 | None | gnomAD-4.0.0 | 1.64201E-05 | |
35925 | 29 | T/I | 43 | rs755111765 | 0.2845 | None | gnomAD-2.1.1 | 1.21E-05 | |
35925 | 29 | T/I | 43 | rs755111765 | 0.2845 | None | gnomAD-4.0.0 | 4.77315E-06 | |
35925 | 29 | T/S | 43 | None | 0.2845 | None | gnomAD-4.0.0 | 1.59105E-06 | |
35926 | 30 | P/L | 44 | rs749774302 | 0.1191 | None | gnomAD-2.1.1 | 4.02E-06 | |
35926 | 30 | P/L | 44 | rs749774302 | 0.1191 | None | gnomAD-4.0.0 | 3.18213E-06 | |
35926 | 30 | P/R | 44 | rs749774302 | 0.1191 | None | gnomAD-4.0.0 | 1.59106E-06 | |
35927 | 31 | E/A | 45 | rs1558954742 | 0.4194 | None | gnomAD-2.1.1 | 4.02E-06 | |
35927 | 31 | E/A | 45 | rs1558954742 | 0.4194 | None | gnomAD-4.0.0 | 2.73663E-06 | |
35927 | 31 | E/K | 45 | rs751773148 | 0.4194 | None | gnomAD-2.1.1 | 8.03E-06 | |
35927 | 31 | E/K | 45 | rs751773148 | 0.4194 | None | gnomAD-4.0.0 | 3.42087E-06 | |
35928 | 32 | V/A | 46 | rs763109620 | 0.1656 | None | gnomAD-2.1.1 | 4.02E-06 | |
35928 | 32 | V/A | 46 | rs763109620 | 0.1656 | None | gnomAD-4.0.0 | 1.36832E-06 | |
35928 | 32 | V/E | 46 | rs763109620 | 0.1656 | None | gnomAD-2.1.1 | 4.02E-06 | |
35928 | 32 | V/E | 46 | rs763109620 | 0.1656 | None | gnomAD-3.1.2 | 1.31E-05 | |
35928 | 32 | V/E | 46 | rs763109620 | 0.1656 | None | gnomAD-4.0.0 | 1.735E-05 | |
35928 | 32 | V/L | 46 | rs1575170744 | 0.1656 | None | gnomAD-4.0.0 | 1.36832E-06 | |
35929 | 33 | T/K | 47 | rs751035844 | 0.2098 | None | gnomAD-3.1.2 | 1.31E-05 | |
35929 | 33 | T/K | 47 | rs751035844 | 0.2098 | None | gnomAD-4.0.0 | 3.71452E-05 | |
35930 | 34 | W/R | 48 | rs1018591024 | 0.1623 |
LGMD2J |
Literature | None | |
35930 | 34 | W/R | 48 | rs1018591024 | 0.1623 | None | gnomAD-4.0.0 | 2.7366E-06 | |
35932 | 36 | C/S | 50 | rs557626982 | 0.1138 | None | gnomAD-2.1.1 | 4.01E-06 | |
35932 | 36 | C/S | 50 | rs557626982 | 0.1138 | None | gnomAD-3.1.2 | 6.57E-06 | |
35932 | 36 | C/S | 50 | rs557626982 | 0.1138 | None | 1000 genomes | 1.99681E-04 | |
35932 | 36 | C/S | 50 | rs557626982 | 0.1138 | None | gnomAD-4.0.0 | 1.36831E-06 | |
35933 | 37 | G/D | 51 | rs1686762598 | 0.4351 | None | gnomAD-3.1.2 | 1.31E-05 | |
35933 | 37 | G/D | 51 | rs1686762598 | 0.4351 | None | gnomAD-4.0.0 | 5.12338E-06 | |
35933 | 37 | G/R | 51 | rs1575170417 | 0.4351 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35937 | 41 | I/N | 58 | None | 0.1057 | None | gnomAD-4.0.0 | 6.84143E-07 | |
35938 | 42 | H/R | 59 | rs1233232821 | 0.4515 | None | gnomAD-2.1.1 | 4.01E-06 | |
35938 | 42 | H/R | 59 | rs1233232821 | 0.4515 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35938 | 42 | H/Y | 59 | None | 0.4515 | None | gnomAD-4.0.0 | 1.59091E-06 | |
35939 | 43 | S/T | 70 | rs762284215 | 0.4714 | None | gnomAD-2.1.1 | 1.07E-05 | |
35939 | 43 | S/T | 70 | rs762284215 | 0.4714 | None | gnomAD-3.1.2 | 1.31E-05 | |
35939 | 43 | S/T | 70 | rs762284215 | 0.4714 | None | gnomAD-4.0.0 | 9.91381E-06 | |
35940 | 44 | Q/H | 73 | None | 0.6613 | None | gnomAD-4.0.0 | 1.5909E-06 | |
35940 | 44 | Q/R | 73 | None | 0.6613 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35941 | 45 | E/Q | 109 | rs777087450 | 0.1442 | None | gnomAD-2.1.1 | 1.61E-05 | |
35941 | 45 | E/Q | 109 | rs777087450 | 0.1442 | None | gnomAD-4.0.0 | 6.36361E-06 | |
35942 | 46 | Q/P | 110 | rs2154129874 | 0.3550 | None | gnomAD-3.1.2 | 6.57E-06 | |
35942 | 46 | Q/P | 110 | rs2154129874 | 0.3550 | None | gnomAD-4.0.0 | 6.56461E-06 | |
35943 | 47 | G/E | 111 | None | 0.3988 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35944 | 48 | R/K | 115 | None | 0.0848 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35946 | 50 | H/P | 122 | rs281864931 | 0.2436 |
TMD LGMD2J |
Literature | None | |
35946 | 50 | H/Y | 122 | rs1686745897 | 0.2436 | None | gnomAD-4.0.0 | 1.36828E-06 | |
35947 | 51 | I/N | 123 | None | 0.1493 | None | gnomAD-2.1.1 | 4.01E-06 | |
35947 | 51 | I/N | 123 | None | 0.1493 | None | gnomAD-3.1.2 | 1.31E-05 | |
35947 | 51 | I/N | 123 | None | 0.1493 |
TMD LGMD2J |
Literature | None | |
35947 | 51 | I/N | 123 | None | 0.1493 | None | gnomAD-4.0.0 | 1.11535E-05 | |
35947 | 51 | I/S | 123 | rs281864928 | 0.1493 | None | gnomAD-4.0.0 | 6.8414E-07 | |
35947 | 51 | I/T | 123 | rs281864928 | 0.1493 | None | gnomAD-2.1.1 | 4.01E-06 | |
35947 | 51 | I/T | 123 | rs281864928 | 0.1493 | None | gnomAD-3.1.2 | 1.31E-05 | |
35947 | 51 | I/T | 123 | rs281864928 | 0.1493 | None | gnomAD-4.0.0 | 3.09819E-06 | |
35951 | 55 | D/E | 131 | rs770407405 | 0.6662 | None | gnomAD-2.1.1 | 3.21E-05 | |
35951 | 55 | D/E | 131 | rs770407405 | 0.6662 | None | gnomAD-3.1.2 | 6.57E-06 | |
35951 | 55 | D/E | 131 | rs770407405 | 0.6662 | None | gnomAD-4.0.0 | 9.91405E-06 | |
35951 | 55 | D/G | 131 | rs1212826574 | 0.6662 | None | gnomAD-4.0.0 | 1.36828E-06 | |
35953 | 57 | L/M | 135 | None | 0.1029 | None | gnomAD-4.0.0 | 1.59092E-06 | |
35953 | 57 | L/R | 135 | rs794729572 | 0.1029 | None | gnomAD-3.1.2 | 6.57E-06 | |
35953 | 57 | L/R | 135 | rs794729572 | 0.1029 | None | gnomAD-4.0.0 | 3.84243E-06 | |
35955 | 59 | T/I | 137 | rs370267738 | 0.1584 | None | gnomAD-4.0.0 | 6.84145E-07 | |
35955 | 59 | T/N | 137 | rs370267738 | 0.1584 | None | gnomAD-2.1.1 | 1.2E-05 | |
35955 | 59 | T/N | 137 | rs370267738 | 0.1584 | None | gnomAD-3.1.2 | 1.31E-05 | |
35955 | 59 | T/N | 137 | rs370267738 | 0.1584 | None | gnomAD-4.0.0 | 7.43567E-06 | |
35956 | 60 | L/P | 138 | rs267607156 | 0.1078 |
TMD LGMD2J |
Literature | None | |
35957 | 61 | I/F | 139 | rs950902715 | 0.1973 | None | gnomAD-2.1.1 | 4.01E-06 | |
35957 | 61 | I/F | 139 | rs950902715 | 0.1973 | None | gnomAD-3.1.2 | 1.31E-05 | |
35957 | 61 | I/F | 139 | rs950902715 | 0.1973 | None | gnomAD-4.0.0 | 2.91226E-05 | |
35957 | 61 | I/M | 139 | None | 0.1973 | None | gnomAD-4.0.0 | 6.84147E-07 | |
35959 | 63 | M/T | 141 | rs1686725786 | 0.2675 | None | gnomAD-4.0.0 | 1.5909E-06 | |
35959 | 63 | M/V | 141 | rs1220326083 | 0.2675 | None | gnomAD-2.1.1 | 4.01E-06 | |
35959 | 63 | M/V | 141 | rs1220326083 | 0.2675 | None | gnomAD-4.0.0 | 3.42075E-06 | |
35961 | 65 | V/A | 144 | None | 0.0833 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35961 | 65 | V/I | 144 | None | 0.0833 | None | gnomAD-2.1.1 | 4.01E-06 | |
35961 | 65 | V/I | 144 | None | 0.0833 | None | gnomAD-3.1.2 | 1.97E-05 | |
35961 | 65 | V/I | 144 | None | 0.0833 | None | gnomAD-4.0.0 | 9.29492E-06 | |
35961 | 65 | V/L | 144 | rs780886524 | 0.0833 | None | gnomAD-2.1.1 | 1.2E-05 | |
35961 | 65 | V/L | 144 | rs780886524 | 0.0833 | None | gnomAD-3.1.2 | 6.57E-06 | |
35961 | 65 | V/L | 144 | rs780886524 | 0.0833 | None | gnomAD-4.0.0 | 1.85898E-06 | |
35962 | 66 | Q/K | 145 | None | 0.2065 | None | gnomAD-4.0.0 | 1.20033E-06 | |
35963 | 67 | K/Q | 146 | rs1558953226 | 0.7091 | None | gnomAD-4.0.0 | 1.59094E-06 | |
35964 | 68 | Q/R | 148 | None | 0.3667 | None | gnomAD-4.0.0 | 2.05245E-06 | |
35966 | 70 | G/D | 151 | rs727505008 | 0.2619 | None | gnomAD-2.1.1 | 8.03E-06 | |
35966 | 70 | G/D | 151 | rs727505008 | 0.2619 | None | gnomAD-4.0.0 | 1.36832E-05 | |
35966 | 70 | G/S | 151 | rs541322681 | 0.2619 | None | gnomAD-2.1.1 | 4.01E-06 | |
35966 | 70 | G/S | 151 | rs541322681 | 0.2619 | None | gnomAD-3.1.2 | 1.31E-05 | |
35966 | 70 | G/S | 151 | rs541322681 | 0.2619 | None | 1000 genomes | 1.99681E-04 | |
35966 | 70 | G/S | 151 | rs541322681 | 0.2619 | None | gnomAD-4.0.0 | 1.31335E-05 | |
35967 | 71 | G/E | 152 | rs780316966 | 0.1810 | None | gnomAD-2.1.1 | 1.2E-05 | |
35967 | 71 | G/E | 152 | rs780316966 | 0.1810 | None | gnomAD-3.1.2 | 6.57E-06 | |
35967 | 71 | G/E | 152 | rs780316966 | 0.1810 | None | gnomAD-4.0.0 | 6.81633E-06 | |
35967 | 71 | G/R | 152 | None | 0.1810 | None | gnomAD-4.0.0 | 2.73665E-06 | |
35970 | 74 | T/I | 155 | rs765869850 | 0.2090 | None | gnomAD-4.0.0 | 2.0525E-06 | |
35970 | 74 | T/N | 155 | None | 0.2090 | None | gnomAD-2.1.1 | 8.03E-06 | |
35970 | 74 | T/N | 155 | None | 0.2090 | None | gnomAD-4.0.0 | 2.0525E-06 | |
35970 | 74 | T/S | 155 | rs765869850 | 0.2090 | None | gnomAD-2.1.1 | 4.02E-06 | |
35970 | 74 | T/S | 155 | rs765869850 | 0.2090 | None | gnomAD-4.0.0 | 6.84166E-07 | |
35971 | 75 | L/V | 156 | None | 0.1021 | None | gnomAD-4.0.0 | 1.59109E-06 | |
35972 | 76 | S/I | 157 | rs397517478 | 0.1875 | None | gnomAD-2.1.1 | 7.85E-05 | |
35972 | 76 | S/I | 157 | rs397517478 | 0.1875 | None | gnomAD-3.1.2 | 1.18304E-04 | |
35972 | 76 | S/I | 157 | rs397517478 | 0.1875 | None | gnomAD-4.0.0 | 7.93177E-05 | |
35972 | 76 | S/N | 157 | None | 0.1875 | None | gnomAD-4.0.0 | 6.84175E-07 | |
35972 | 76 | S/R | 157 | None | 0.1875 | None | gnomAD-4.0.0 | 1.20033E-06 | |
35974 | 78 | G/R | 159 | rs372653064 | 0.0960 | None | gnomAD-2.1.1 | 1.43E-05 | |
35974 | 78 | G/R | 159 | rs372653064 | 0.0960 | None | gnomAD-3.1.2 | 1.31E-05 | |
35974 | 78 | G/R | 159 | rs372653064 | 0.0960 | None | gnomAD-4.0.0 | 6.84188E-07 | |
35978 | 82 | G/V | 164 | None | 0.1350 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35979 | 83 | S/P | 165 | None | 0.3229 | None | gnomAD-4.0.0 | 1.59126E-06 | |
35979 | 83 | S/Y | 165 | None | 0.3229 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35980 | 84 | D/H | 166 | None | 0.1614 | None | gnomAD-4.0.0 | 1.59156E-06 | |
35981 | 85 | S/P | 168 | None | 0.2990 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35982 | 86 | A/V | 169 | None | 0.1496 | None | gnomAD-4.0.0 | 1.20033E-06 | |
35983 | 87 | T/A | 171 | rs764418855 | 0.2259 | None | gnomAD-2.1.1 | 4.02E-06 | |
35983 | 87 | T/A | 171 | rs764418855 | 0.2259 | None | gnomAD-4.0.0 | 6.84266E-07 | |
35983 | 87 | T/P | 171 | rs764418855 | 0.2259 | None | gnomAD-2.1.1 | 1.21E-05 | |
35983 | 87 | T/P | 171 | rs764418855 | 0.2259 | None | gnomAD-4.0.0 | 4.78986E-06 | |
35986 | 90 | I/M | 174 | None | 0.1117 | None | gnomAD-4.0.0 | 6.84448E-07 | |
35986 | 90 | I/T | 174 | rs1060500541 | 0.1117 | None | gnomAD-2.1.1 | 4.03E-06 | |
35986 | 90 | I/T | 174 | rs1060500541 | 0.1117 | None | gnomAD-4.0.0 | 1.36884E-06 | |
35987 | 91 | H/N | 175 | rs2154129767 | 0.2780 | None | gnomAD-4.0.0 | 4.80136E-06 | |
35987 | 91 | H/R | 175 | rs761091731 | 0.2780 | None | gnomAD-2.1.1 | 4.03E-06 | |
35987 | 91 | H/R | 175 | rs761091731 | 0.2780 | None | gnomAD-4.0.0 | 1.36907E-06 | |
35988 | 92 | I/V | 177 | None | 0.9314 | None | gnomAD-4.0.0 | 3.60097E-06 |