10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | T | L | V | S | G | L | K | N | V | T | V | I | E | G | E | S | V | T | L | E | C | H | I | S | G | Y | P | S | P | T | V | T | W | Y | R | E | D | Y | Q | I | E | S | S | I | D | F | Q | I | T | F | Q | S | G | I | A | R | L | M | I | R | E | A | F | A | E | D | S | G | R | F | T | C | S | A | V | N | E | A | G | T | V | S | T | S | C | Y | L | A | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
943 | 1 | P/L | 1 | rs577379388 | 0.1731 | None | gnomAD-2.1.1 | 3.98E-06 | |
943 | 1 | P/L | 1 | rs577379388 | 0.1731 | None | gnomAD-3.1.2 | 6.59E-06 | |
943 | 1 | P/L | 1 | rs577379388 | 0.1731 | None | 1000 genomes | 1.99681E-04 | |
943 | 1 | P/L | 1 | rs577379388 | 0.1731 | None | gnomAD-4.0.0 | 2.03049E-06 | |
946 | 4 | V/I | 4 | rs752246051 | 0.5827 | None | gnomAD-2.1.1 | 1.77E-05 | |
946 | 4 | V/I | 4 | rs752246051 | 0.5827 | None | gnomAD-3.1.2 | 6.59E-06 | |
946 | 4 | V/I | 4 | rs752246051 | 0.5827 | None | gnomAD-4.0.0 | 3.03764E-05 | |
947 | 5 | S/L | 5 | rs761200839 | 0.3859 | None | gnomAD-2.1.1 | 4.38E-05 | |
947 | 5 | S/L | 5 | rs761200839 | 0.3859 | None | gnomAD-3.1.2 | 3.29E-05 | |
947 | 5 | S/L | 5 | rs761200839 | 0.3859 | None | gnomAD-4.0.0 | 1.98408E-05 | |
947 | 5 | S/P | 5 | None | 0.3859 | None | gnomAD-4.0.0 | 1.59137E-06 | |
948 | 6 | G/D | 7 | rs2092914305 | 0.2986 | None | gnomAD-4.0.0 | 2.05237E-06 | |
948 | 6 | G/S | 7 | rs1234047810 | 0.2986 | None | gnomAD-2.1.1 | 4E-06 | |
948 | 6 | G/S | 7 | rs1234047810 | 0.2986 | None | gnomAD-4.0.0 | 6.15715E-06 | |
950 | 8 | K/E | 9 | rs367559160 | 0.8261 | None | gnomAD-2.1.1 | 2.49E-05 | |
950 | 8 | K/E | 9 | rs367559160 | 0.8261 | None | gnomAD-3.1.2 | 1.97E-05 | |
950 | 8 | K/E | 9 | rs367559160 | 0.8261 | None | gnomAD-4.0.0 | 7.68285E-05 | |
952 | 10 | V/L | 13 | rs373848402 | 0.3457 | None | gnomAD-2.1.1 | 1.2E-05 | |
952 | 10 | V/L | 13 | rs373848402 | 0.3457 | None | gnomAD-3.1.2 | 3.94E-05 | |
952 | 10 | V/L | 13 | rs373848402 | 0.3457 | None | gnomAD-4.0.0 | 6.84097E-07 | |
952 | 10 | V/M | 13 | None | 0.3457 | None | gnomAD-4.0.0 | 6.84097E-07 | |
953 | 11 | T/A | 14 | None | 0.5353 | None | gnomAD-4.0.0 | 2.05228E-06 | |
953 | 11 | T/P | 14 | None | 0.5353 | None | gnomAD-4.0.0 | 1.77864E-05 | |
953 | 11 | T/S | 14 | rs72647865 | 0.5353 | None | gnomAD-2.1.1 | 4E-06 | |
953 | 11 | T/S | 14 | rs72647865 | 0.5353 | None | gnomAD-4.0.0 | 6.84097E-06 | |
954 | 12 | V/G | 16 | None | 0.1430 | None | gnomAD-4.0.0 | 1.5906E-06 | |
955 | 13 | I/L | 18 | rs762556628 | 0.5845 | None | gnomAD-2.1.1 | 4E-06 | |
955 | 13 | I/V | 18 | rs762556628 | 0.5845 | None | gnomAD-2.1.1 | 4E-06 | |
955 | 13 | I/V | 18 | rs762556628 | 0.5845 | None | gnomAD-4.0.0 | 4.80134E-06 | |
956 | 14 | E/V | 23 | rs1256742632 | 0.5302 | None | gnomAD-2.1.1 | 3.19E-05 | |
956 | 14 | E/V | 23 | rs1256742632 | 0.5302 | None | gnomAD-4.0.0 | 1.20033E-06 | |
957 | 15 | G/C | 24 | None | 0.2933 | None | gnomAD-4.0.0 | 2.40067E-06 | |
957 | 15 | G/S | 24 | None | 0.2933 | None | gnomAD-4.0.0 | 1.20033E-06 | |
958 | 16 | E/D | 25 | None | 0.3730 | None | gnomAD-4.0.0 | 1.20037E-06 | |
959 | 17 | S/Y | 26 | None | 0.5515 | None | gnomAD-4.0.0 | 1.59062E-06 | |
960 | 18 | V/I | 28 | None | 0.2021 | None | gnomAD-4.0.0 | 1.36821E-06 | |
960 | 18 | V/L | 28 | None | 0.2021 | None | gnomAD-4.0.0 | 6.84104E-07 | |
962 | 20 | L/W | 30 | None | 0.1664 | None | gnomAD-4.0.0 | 1.20033E-06 | |
963 | 21 | E/D | 31 | rs1393032636 | 0.3109 | None | gnomAD-2.1.1 | 3.99E-06 | |
963 | 21 | E/D | 31 | rs1393032636 | 0.3109 | None | gnomAD-4.0.0 | 1.59056E-06 | |
964 | 22 | C/S | 33 | rs1195488045 | 0.0968 | None | gnomAD-2.1.1 | 3.99E-06 | |
964 | 22 | C/S | 33 | rs1195488045 | 0.0968 | None | gnomAD-4.0.0 | 1.59057E-06 | |
965 | 23 | H/P | 34 | None | 0.3935 | None | gnomAD-4.0.0 | 1.59055E-06 | |
965 | 23 | H/Y | 34 | rs761450193 | 0.3935 | None | gnomAD-2.1.1 | 7.98E-06 | |
965 | 23 | H/Y | 34 | rs761450193 | 0.3935 | None | gnomAD-4.0.0 | 3.18112E-06 | |
966 | 24 | I/M | 35 | rs144408973 | 0.1602 | None | gnomAD-2.1.1 | 3.99E-06 | |
966 | 24 | I/N | 35 | None | 0.1602 | None | gnomAD-4.0.0 | 2.40066E-06 | |
966 | 24 | I/V | 35 | rs2092911302 | 0.1602 | None | gnomAD-4.0.0 | 3.1811E-06 | |
967 | 25 | S/P | 38 | rs768416555 | 0.3825 | None | gnomAD-2.1.1 | 3.99E-06 | |
967 | 25 | S/P | 38 | rs768416555 | 0.3825 | None | gnomAD-4.0.0 | 1.59055E-06 | |
968 | 26 | G/E | 40 | None | 0.3268 | None | gnomAD-4.0.0 | 6.84079E-07 | |
968 | 26 | G/V | 40 | None | 0.3268 | None | gnomAD-4.0.0 | 6.84079E-07 | |
969 | 27 | Y/C | 41 | rs779994150 | 0.8970 | None | gnomAD-2.1.1 | 3.99E-06 | |
969 | 27 | Y/H | 41 | rs746986462 | 0.8970 | None | gnomAD-2.1.1 | 7.98E-06 | |
969 | 27 | Y/H | 41 | rs746986462 | 0.8970 | None | gnomAD-4.0.0 | 3.18112E-06 | |
970 | 28 | P/A | 42 | rs771852108 | 0.3383 | None | gnomAD-2.1.1 | 1.99E-05 | |
970 | 28 | P/A | 42 | rs771852108 | 0.3383 | None | gnomAD-4.0.0 | 1.27245E-05 | |
970 | 28 | P/L | 42 | rs745978235 | 0.3383 | None | gnomAD-2.1.1 | 3.99E-06 | |
971 | 29 | S/F | 43 | None | 0.5537 | None | gnomAD-4.0.0 | 1.59055E-06 | |
972 | 30 | P/L | 44 | rs540920622 | 0.1414 | None | gnomAD-2.1.1 | 7.98E-06 | |
972 | 30 | P/L | 44 | rs540920622 | 0.1414 | None | gnomAD-3.1.2 | 6.57E-06 | |
972 | 30 | P/L | 44 | rs540920622 | 0.1414 | None | 1000 genomes | 1.99681E-04 | |
972 | 30 | P/L | 44 | rs540920622 | 0.1414 | None | gnomAD-4.0.0 | 4.33687E-06 | |
972 | 30 | P/Q | 44 | rs540920622 | 0.1414 | None | gnomAD-3.1.2 | 6.57E-06 | |
972 | 30 | P/Q | 44 | rs540920622 | 0.1414 | None | gnomAD-4.0.0 | 6.57307E-06 | |
974 | 32 | V/L | 46 | rs749511236 | 0.2181 | None | gnomAD-4.0.0 | 1.36816E-06 | |
974 | 32 | V/M | 46 | rs749511236 | 0.2181 | None | gnomAD-2.1.1 | 7.97E-06 | |
974 | 32 | V/M | 46 | rs749511236 | 0.2181 | None | gnomAD-4.0.0 | 2.05224E-06 | |
975 | 33 | T/A | 47 | rs2092909709 | 0.3075 | None | gnomAD-3.1.2 | 1.31E-05 | |
975 | 33 | T/A | 47 | rs2092909709 | 0.3075 | None | gnomAD-4.0.0 | 3.84149E-06 | |
976 | 34 | W/R | 48 | rs267607155 | 0.1169 |
DCM |
Literature | None | |
977 | 35 | Y/C | 49 | rs1305432524 | 0.2287 | None | gnomAD-2.1.1 | 7.97E-06 | |
977 | 35 | Y/C | 49 | rs1305432524 | 0.2287 | None | gnomAD-4.0.0 | 3.18107E-06 | |
978 | 36 | R/G | 50 | None | 0.2609 | None | gnomAD-4.0.0 | 1.20034E-06 | |
978 | 36 | R/T | 50 | None | 0.2609 | None | gnomAD-4.0.0 | 1.36815E-06 | |
979 | 37 | E/K | 51 | rs778333259 | 0.2721 | None | gnomAD-2.1.1 | 1.59E-05 | |
979 | 37 | E/K | 51 | rs778333259 | 0.2721 | None | gnomAD-4.0.0 | 2.0677E-05 | |
981 | 39 | Y/C | 55 | rs1312572604 | 0.7915 | None | gnomAD-2.1.1 | 3.99E-06 | |
984 | 42 | E/G | 59 | rs768091037 | 0.9347 | None | gnomAD-2.1.1 | 5.32E-05 | |
984 | 42 | E/G | 59 | rs768091037 | 0.9347 | None | gnomAD-3.1.2 | 3.94E-05 | |
984 | 42 | E/G | 59 | rs768091037 | 0.9347 | None | gnomAD-4.0.0 | 2.35434E-05 | |
984 | 42 | E/K | 59 | rs753071669 | 0.9347 | None | gnomAD-2.1.1 | 7.98E-06 | |
984 | 42 | E/K | 59 | rs753071669 | 0.9347 | None | gnomAD-4.0.0 | 4.77169E-06 | |
985 | 43 | S/R | 70 | None | 0.4669 | None | gnomAD-4.0.0 | 1.59053E-06 | |
986 | 44 | S/F | 73 | rs755373497 | 0.2492 | None | gnomAD-2.1.1 | 3.99E-06 | |
986 | 44 | S/F | 73 | rs755373497 | 0.2492 | None | gnomAD-4.0.0 | 3.18109E-06 | |
987 | 45 | I/M | 102 | rs1447507348 | 0.8609 | None | gnomAD-3.1.2 | 1.31E-05 | |
987 | 45 | I/M | 102 | rs1447507348 | 0.8609 | None | gnomAD-4.0.0 | 1.31404E-05 | |
987 | 45 | I/T | 102 | None | 0.8609 | None | gnomAD-4.0.0 | 1.20032E-06 | |
987 | 45 | I/V | 102 | rs1363179107 | 0.8609 | None | gnomAD-2.1.1 | 3.99E-06 | |
987 | 45 | I/V | 102 | rs1363179107 | 0.8609 | None | gnomAD-4.0.0 | 1.36815E-06 | |
988 | 46 | D/N | 115 | None | 0.4480 | None | gnomAD-4.0.0 | 1.36815E-06 | |
989 | 47 | F/L | 121 | rs376548316 | 0.2783 | None | gnomAD-2.1.1 | 5.58E-05 | |
989 | 47 | F/L | 121 | rs376548316 | 0.2783 | None | gnomAD-3.1.2 | 6.57E-06 | |
989 | 47 | F/L | 121 | rs376548316 | 0.2783 | None | gnomAD-4.0.0 | 6.84075E-07 | |
991 | 49 | I/M | 123 | None | 0.2521 | None | gnomAD-4.0.0 | 2.40064E-06 | |
993 | 51 | F/L | 127 | rs371838857 | 0.2831 | None | gnomAD-2.1.1 | 7.97E-06 | |
993 | 51 | F/L | 127 | rs371838857 | 0.2831 | None | gnomAD-4.0.0 | 2.05223E-06 | |
994 | 52 | Q/R | 130 | None | 0.7662 | None | gnomAD-4.0.0 | 1.59054E-06 | |
995 | 53 | S/G | 131 | rs1369944497 | 0.8723 | None | gnomAD-2.1.1 | 3.19E-05 | |
995 | 53 | S/G | 131 | rs1369944497 | 0.8723 | None | gnomAD-3.1.2 | 2.63E-05 | |
995 | 53 | S/G | 131 | rs1369944497 | 0.8723 | None | gnomAD-4.0.0 | 2.62895E-05 | |
995 | 53 | S/N | 131 | None | 0.8723 | None | gnomAD-4.0.0 | 2.40064E-06 | |
996 | 54 | G/E | 134 | None | 0.2009 | None | gnomAD-4.0.0 | 6.36215E-06 | |
996 | 54 | G/R | 134 | None | 0.2009 | None | gnomAD-4.0.0 | 1.20032E-06 | |
997 | 55 | I/V | 135 | rs761499989 | 0.2689 | None | gnomAD-2.1.1 | 1.2E-05 | |
997 | 55 | I/V | 135 | rs761499989 | 0.2689 | None | gnomAD-3.1.2 | 6.57E-06 | |
997 | 55 | I/V | 135 | rs761499989 | 0.2689 | None | gnomAD-4.0.0 | 6.403E-06 | |
998 | 56 | A/G | 136 | rs776232888 | 0.0896 | None | gnomAD-2.1.1 | 7.97E-06 | |
998 | 56 | A/G | 136 | rs776232888 | 0.0896 | None | gnomAD-3.1.2 | 3.94E-05 | |
998 | 56 | A/G | 136 | rs776232888 | 0.0896 | None | gnomAD-4.0.0 | 6.8149E-06 | |
998 | 56 | A/P | 136 | None | 0.0896 | None | gnomAD-4.0.0 | 6.84076E-07 | |
998 | 56 | A/S | 136 | None | 0.0896 | None | gnomAD-4.0.0 | 2.05223E-06 | |
998 | 56 | A/V | 136 | rs776232888 | 0.0896 | None | gnomAD-2.1.1 | 3.99E-06 | |
998 | 56 | A/V | 136 | rs776232888 | 0.0896 | None | gnomAD-4.0.0 | 1.36816E-06 | |
999 | 57 | R/C | 137 | rs142000511 | 0.4262 | None | gnomAD-2.1.1 | 1.2E-05 | |
999 | 57 | R/C | 137 | rs142000511 | 0.4262 | None | gnomAD-4.0.0 | 6.84079E-06 | |
999 | 57 | R/H | 137 | None | 0.4262 | None | gnomAD-2.1.1 | 2.83E-05 | |
999 | 57 | R/H | 137 | None | 0.4262 | None | gnomAD-3.1.2 | 3.29E-05 | |
999 | 57 | R/H | 137 | None | 0.4262 | None | gnomAD-4.0.0 | 1.98256E-05 | |
999 | 57 | R/L | 137 | rs371757623 | 0.4262 | None | gnomAD-4.0.0 | 1.36816E-06 | |
999 | 57 | R/S | 137 | None | 0.4262 | None | gnomAD-4.0.0 | 6.8408E-07 | |
1000 | 58 | L/F | 138 | rs140953779 | 0.0791 | None | gnomAD-2.1.1 | 3.54E-05 | |
1000 | 58 | L/F | 138 | rs140953779 | 0.0791 | None | gnomAD-3.1.2 | 3.29E-05 | |
1000 | 58 | L/F | 138 | rs140953779 | 0.0791 | None | 1000 genomes | 1.99681E-04 | |
1000 | 58 | L/F | 138 | rs140953779 | 0.0791 | None | gnomAD-4.0.0 | 1.40848E-05 | |
1001 | 59 | M/I | 139 | rs794729522 | 0.4171 | None | gnomAD-4.0.0 | 6.36231E-06 | |
1001 | 59 | M/R | 139 | rs148269839 | 0.4171 | None | gnomAD-2.1.1 | 1.13354E-04 | |
1001 | 59 | M/R | 139 | rs148269839 | 0.4171 | None | gnomAD-3.1.2 | 1.18247E-04 | |
1001 | 59 | M/R | 139 | rs148269839 | 0.4171 | None | gnomAD-4.0.0 | 1.44358E-04 | |
1001 | 59 | M/T | 139 | rs148269839 | 0.4171 | None | gnomAD-2.1.1 | 8.86E-05 | |
1001 | 59 | M/T | 139 | rs148269839 | 0.4171 | None | gnomAD-3.1.2 | 5.91E-05 | |
1001 | 59 | M/T | 139 | rs148269839 | 0.4171 | None | gnomAD-4.0.0 | 3.71737E-05 | |
1001 | 59 | M/V | 139 | None | 0.4171 | None | gnomAD-4.0.0 | 1.20032E-06 | |
1002 | 60 | I/L | 140 | rs879153744 | 0.1138 | None | gnomAD-2.1.1 | 1.59E-05 | |
1002 | 60 | I/L | 140 | rs879153744 | 0.1138 | None | gnomAD-3.1.2 | 3.94E-05 | |
1002 | 60 | I/L | 140 | rs879153744 | 0.1138 | None | gnomAD-4.0.0 | 8.05466E-06 | |
1002 | 60 | I/V | 140 | None | 0.1138 | None | gnomAD-4.0.0 | 1.36816E-06 | |
1003 | 61 | R/C | 141 | rs774551765 | 0.4674 | None | gnomAD-2.1.1 | 1.2E-05 | |
1003 | 61 | R/C | 141 | rs774551765 | 0.4674 | None | gnomAD-3.1.2 | 1.31E-05 | |
1003 | 61 | R/C | 141 | rs774551765 | 0.4674 | None | gnomAD-4.0.0 | 2.72623E-05 | |
1003 | 61 | R/H | 141 | rs1330606775 | 0.4674 | None | gnomAD-2.1.1 | 3.19E-05 | |
1003 | 61 | R/H | 141 | rs1330606775 | 0.4674 | None | gnomAD-3.1.2 | 6.57E-06 | |
1003 | 61 | R/H | 141 | rs1330606775 | 0.4674 | None | gnomAD-4.0.0 | 4.9568E-06 | |
1003 | 61 | R/S | 141 | rs774551765 | 0.4674 | None | gnomAD-4.0.0 | 1.36817E-06 | |
1004 | 62 | E/A | 143 | rs1413214135 | 0.5807 | None | gnomAD-2.1.1 | 7.97E-06 | |
1004 | 62 | E/A | 143 | rs1413214135 | 0.5807 | None | gnomAD-4.0.0 | 7.52498E-06 | |
1004 | 62 | E/K | 143 | rs200902055 | 0.5807 | None | gnomAD-2.1.1 | 1.23987E-04 | |
1004 | 62 | E/K | 143 | rs200902055 | 0.5807 | None | gnomAD-3.1.2 | 1.3804E-04 | |
1004 | 62 | E/K | 143 | rs200902055 | 0.5807 | None | gnomAD-4.0.0 | 6.07216E-05 | |
1005 | 63 | A/G | 144 | None | 0.0960 | None | gnomAD-4.0.0 | 6.84088E-07 | |
1005 | 63 | A/T | 144 | None | 0.0960 | None | gnomAD-4.0.0 | 3.18122E-06 | |
1005 | 63 | A/V | 144 | rs1357635150 | 0.0960 | None | gnomAD-2.1.1 | 3.99E-06 | |
1005 | 63 | A/V | 144 | rs1357635150 | 0.0960 | None | gnomAD-4.0.0 | 1.36818E-06 | |
1006 | 64 | F/L | 145 | None | 0.4508 | None | gnomAD-4.0.0 | 3.60097E-06 | |
1006 | 64 | F/S | 145 | None | 0.4508 | None | gnomAD-4.0.0 | 1.59061E-06 | |
1007 | 65 | A/T | 146 | None | 0.4144 | None | gnomAD-4.0.0 | 1.36819E-06 | |
1007 | 65 | A/V | 146 | rs749564348 | 0.4144 | None | gnomAD-2.1.1 | 1.2E-05 | |
1008 | 66 | E/D | 148 | None | 0.8792 | None | gnomAD-4.0.0 | 1.36821E-06 | |
1008 | 66 | E/K | 148 | rs756356686 | 0.8792 | None | gnomAD-2.1.1 | 3.99E-06 | |
1008 | 66 | E/K | 148 | rs756356686 | 0.8792 | None | gnomAD-3.1.2 | 6.57E-06 | |
1008 | 66 | E/K | 148 | rs756356686 | 0.8792 | None | gnomAD-4.0.0 | 2.56143E-06 | |
1009 | 67 | D/E | 149 | rs794729523 | 0.1942 | None | gnomAD-3.1.2 | 1.31E-05 | |
1009 | 67 | D/E | 149 | rs794729523 | 0.1942 | None | gnomAD-4.0.0 | 7.43529E-06 | |
1011 | 69 | G/R | 152 | rs397517546 | 0.1258 | None | gnomAD-2.1.1 | 1.99E-05 | |
1011 | 69 | G/R | 152 | rs397517546 | 0.1258 | None | gnomAD-3.1.2 | 1.31E-05 | |
1011 | 69 | G/R | 152 | rs397517546 | 0.1258 | None | gnomAD-4.0.0 | 9.29422E-06 | |
1012 | 70 | R/Q | 153 | rs368885310 | 0.2881 | None | gnomAD-2.1.1 | 3.9E-05 | |
1012 | 70 | R/Q | 153 | rs368885310 | 0.2881 | None | gnomAD-3.1.2 | 5.26E-05 | |
1012 | 70 | R/Q | 153 | rs368885310 | 0.2881 | None | gnomAD-4.0.0 | 2.04468E-05 | |
1016 | 74 | S/G | 157 | rs756789081 | 0.2153 | None | gnomAD-2.1.1 | 3.99E-06 | |
1016 | 74 | S/G | 157 | rs756789081 | 0.2153 | None | gnomAD-3.1.2 | 6.57E-06 | |
1016 | 74 | S/G | 157 | rs756789081 | 0.2153 | None | gnomAD-4.0.0 | 2.5616E-06 | |
1016 | 74 | S/R | 157 | None | 0.2153 | None | gnomAD-4.0.0 | 1.59105E-06 | |
1018 | 76 | V/A | 159 | rs878967057 | 0.3778 | None | gnomAD-3.1.2 | 6.57E-06 | |
1018 | 76 | V/A | 159 | rs878967057 | 0.3778 | None | gnomAD-4.0.0 | 6.56927E-06 | |
1020 | 78 | E/A | 162 | None | 0.9052 | None | gnomAD-4.0.0 | 1.20032E-06 | |
1021 | 79 | A/D | 163 | None | 0.7110 | None | gnomAD-4.0.0 | 1.59161E-06 | |
1021 | 79 | A/S | 163 | rs763746036 | 0.7110 | None | gnomAD-3.1.2 | 6.57E-06 | |
1021 | 79 | A/T | 163 | rs763746036 | 0.7110 | None | gnomAD-2.1.1 | 3.99E-06 | |
1021 | 79 | A/T | 163 | rs763746036 | 0.7110 | None | gnomAD-4.0.0 | 1.59161E-06 | |
1023 | 81 | T/I | 165 | None | 0.4466 | None | gnomAD-4.0.0 | 1.36872E-06 | |
1024 | 82 | V/F | 166 | None | 0.2396 | None | gnomAD-4.0.0 | 6.84403E-07 | |
1024 | 82 | V/G | 166 | rs879097187 | 0.2396 | None | gnomAD-2.1.1 | 3.18E-05 | |
1024 | 82 | V/G | 166 | rs879097187 | 0.2396 | None | gnomAD-4.0.0 | 1.3688E-06 | |
1024 | 82 | V/I | 166 | rs368770038 | 0.2396 | None | gnomAD-2.1.1 | 3.99E-05 | |
1024 | 82 | V/I | 166 | rs368770038 | 0.2396 | None | gnomAD-3.1.2 | 6.57E-06 | |
1024 | 82 | V/I | 166 | rs368770038 | 0.2396 | None | gnomAD-4.0.0 | 2.54131E-05 | |
1026 | 84 | T/A | 169 | rs2092899291 | 0.1720 | None | gnomAD-3.1.2 | 6.57E-06 | |
1026 | 84 | T/A | 169 | rs2092899291 | 0.1720 | None | gnomAD-4.0.0 | 6.56953E-06 | |
1026 | 84 | T/I | 169 | rs1231552005 | 0.1720 | None | gnomAD-2.1.1 | 3.99E-06 | |
1026 | 84 | T/I | 169 | rs1231552005 | 0.1720 | None | gnomAD-4.0.0 | 2.60101E-05 | |
1027 | 85 | S/P | 171 | None | 0.3917 | None | gnomAD-4.0.0 | 3.18567E-06 | |
1028 | 86 | C/F | 172 | rs767205822 | 0.1072 | None | gnomAD-3.1.2 | 6.57E-06 | |
1028 | 86 | C/F | 172 | rs767205822 | 0.1072 | None | gnomAD-4.0.0 | 6.57108E-06 | |
1028 | 86 | C/G | 172 | None | 0.1072 | None | gnomAD-4.0.0 | 2.05357E-06 | |
1028 | 86 | C/Y | 172 | rs767205822 | 0.1072 | None | gnomAD-2.1.1 | 3.99E-06 | |
1028 | 86 | C/Y | 172 | rs767205822 | 0.1072 | None | gnomAD-4.0.0 | 1.3691E-06 | |
1029 | 87 | Y/C | 173 | rs774126306 | 0.4305 | None | gnomAD-2.1.1 | 1.42E-05 | |
1029 | 87 | Y/C | 173 | rs774126306 | 0.4305 | None | gnomAD-3.1.2 | 2.63E-05 | |
1029 | 87 | Y/C | 173 | rs774126306 | 0.4305 | None | gnomAD-4.0.0 | 6.81985E-06 | |
1029 | 87 | Y/S | 173 | rs774126306 | 0.4305 | None | gnomAD-2.1.1 | 3.99E-06 | |
1029 | 87 | Y/S | 173 | rs774126306 | 0.4305 | None | gnomAD-4.0.0 | 6.84583E-07 | |
1030 | 88 | L/V | 174 | rs773367580 | 0.1093 | None | gnomAD-2.1.1 | 7.98E-06 | |
1030 | 88 | L/V | 174 | rs773367580 | 0.1093 | None | gnomAD-3.1.2 | 6.57E-06 | |
1030 | 88 | L/V | 174 | rs773367580 | 0.1093 | None | gnomAD-4.0.0 | 3.84703E-06 | |
1031 | 89 | A/S | 175 | rs748303934 | 0.2154 | None | gnomAD-4.0.0 | 1.59367E-06 | |
1031 | 89 | A/T | 175 | rs748303934 | 0.2154 | None | gnomAD-2.1.1 | 7.1E-06 | |
1031 | 89 | A/T | 175 | rs748303934 | 0.2154 | None | gnomAD-3.1.2 | 1.97E-05 | |
1031 | 89 | A/T | 175 | rs748303934 | 0.2154 | None | gnomAD-4.0.0 | 6.41279E-06 | |
1031 | 89 | A/V | 175 | None | 0.2154 | None | gnomAD-4.0.0 | 1.59369E-06 | |
1032 | 90 | V/L | 177 | None | 0.1718 | None | gnomAD-4.0.0 | 1.59383E-06 | |
1032 | 90 | V/M | 177 | rs768869901 | 0.1718 | None | gnomAD-2.1.1 | 7.98E-06 | |
1032 | 90 | V/M | 177 | rs768869901 | 0.1718 | None | gnomAD-3.1.2 | 1.31E-05 | |
1032 | 90 | V/M | 177 | rs768869901 | 0.1718 | None | gnomAD-4.0.0 | 6.4133E-06 |