10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
V | P | G | P | P | K | D | L | K | V | S | D | I | T | R | G | S | C | R | L | S | W | K | M | P | D | D | D | G | G | D | R | I | K | G | Y | V | I | E | K | R | T | I | D | G | K | A | W | T | K | V | N | P | D | C | G | S | T | T | F | V | V | P | D | L | L | S | E | Q | Q | Y | F | F | R | V | R | A | E | N | R | F | G | I | G | P | P | V | E | T | I | Q | R | T | T | A | R | D |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
18479 | 1 | V/A | 1 | rs772227196 | 0.4804 | None | gnomAD-2.1.1 | 4.08E-06 | |
18479 | 1 | V/A | 1 | rs772227196 | 0.4804 | None | gnomAD-4.0.0 | 1.60353E-06 | |
18479 | 1 | V/I | 1 | rs559712998 | 0.4804 | None | gnomAD-2.1.1 | 1.91894E-04 | |
18479 | 1 | V/I | 1 | rs559712998 | 0.4804 | None | gnomAD-3.1.2 | 6.58E-05 | |
18479 | 1 | V/I | 1 | rs559712998 | 0.4804 | None | 1000 genomes | 1.99681E-04 | |
18479 | 1 | V/I | 1 | rs559712998 | 0.4804 | None | gnomAD-4.0.0 | 4.10281E-05 | |
18482 | 4 | P/L | 4 | None | 0.3913 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18483 | 5 | P/L | 5 | rs1416386473 | 0.1171 | None | gnomAD-2.1.1 | 4.05E-06 | |
18483 | 5 | P/L | 5 | rs1416386473 | 0.1171 | None | gnomAD-4.0.0 | 2.05585E-06 | |
18483 | 5 | P/S | 5 | rs1394478357 | 0.1171 | None | gnomAD-3.1.2 | 6.58E-06 | |
18483 | 5 | P/S | 5 | rs1394478357 | 0.1171 | None | gnomAD-4.0.0 | 2.56966E-06 | |
18486 | 8 | L/P | 9 | rs774650474 | 0.2048 | None | gnomAD-2.1.1 | 4.04E-06 | |
18486 | 8 | L/P | 9 | rs774650474 | 0.2048 | None | gnomAD-4.0.0 | 4.78516E-06 | |
18486 | 8 | L/V | 9 | None | 0.2048 | None | gnomAD-4.0.0 | 3.19056E-06 | |
18489 | 11 | S/I | 13 | rs968408582 | 0.3004 | None | gnomAD-2.1.1 | 4.04E-06 | |
18489 | 11 | S/I | 13 | rs968408582 | 0.3004 | None | gnomAD-4.0.0 | 3.18845E-06 | |
18490 | 12 | D/E | 14 | None | 0.5289 | None | gnomAD-4.0.0 | 1.59384E-06 | |
18491 | 13 | I/T | 15 | None | 0.3449 | None | gnomAD-4.0.0 | 3.18764E-06 | |
18491 | 13 | I/V | 15 | None | 0.3449 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18494 | 16 | G/S | 18 | rs368523054 | 0.2000 | None | gnomAD-2.1.1 | 1.21E-05 | |
18494 | 16 | G/S | 18 | rs368523054 | 0.2000 | None | gnomAD-3.1.2 | 6.58E-06 | |
18494 | 16 | G/S | 18 | rs368523054 | 0.2000 | None | gnomAD-4.0.0 | 5.13056E-06 | |
18495 | 17 | S/R | 19 | rs1213190093 | 0.2201 | None | gnomAD-2.1.1 | 3.19E-05 | |
18495 | 17 | S/R | 19 | rs1213190093 | 0.2201 | None | gnomAD-3.1.2 | 6.58E-06 | |
18495 | 17 | S/R | 19 | rs1213190093 | 0.2201 | None | gnomAD-4.0.0 | 6.84559E-07 | |
18496 | 18 | C/Y | 20 | rs1576287548 | 0.0926 | None | gnomAD-4.0.0 | 1.36914E-06 | |
18501 | 23 | K/N | 25 | None | 0.4901 | None | gnomAD-4.0.0 | 6.8453E-07 | |
18502 | 24 | M/I | 26 | rs747559618 | 0.6572 | None | gnomAD-4.0.0 | 1.593E-06 | |
18502 | 24 | M/T | 26 | None | 0.6572 | None | gnomAD-4.0.0 | 1.59296E-06 | |
18504 | 26 | D/G | 28 | rs778267361 | 0.9045 | None | gnomAD-2.1.1 | 4.03E-06 | |
18504 | 26 | D/G | 28 | rs778267361 | 0.9045 | None | gnomAD-4.0.0 | 1.59296E-06 | |
18504 | 26 | D/Y | 28 | rs1254716057 | 0.9045 | None | gnomAD-3.1.2 | 6.58E-06 | |
18504 | 26 | D/Y | 28 | rs1254716057 | 0.9045 | None | gnomAD-4.0.0 | 6.57557E-06 | |
18505 | 27 | D/N | 29 | rs563090275 | 0.6806 | None | gnomAD-2.1.1 | 1.79E-05 | |
18505 | 27 | D/N | 29 | rs563090275 | 0.6806 | None | gnomAD-3.1.2 | 1.32E-05 | |
18505 | 27 | D/N | 29 | rs563090275 | 0.6806 | None | 1000 genomes | 1.99681E-04 | |
18505 | 27 | D/N | 29 | rs563090275 | 0.6806 | None | gnomAD-4.0.0 | 6.19969E-06 | |
18506 | 28 | D/N | 30 | rs757839460 | 0.3104 | None | gnomAD-2.1.1 | 3.22E-05 | |
18506 | 28 | D/N | 30 | rs757839460 | 0.3104 | None | gnomAD-3.1.2 | 1.32E-05 | |
18506 | 28 | D/N | 30 | rs757839460 | 0.3104 | None | gnomAD-4.0.0 | 1.798E-05 | |
18507 | 29 | G/E | 31 | rs794727388 | 0.2884 | None | gnomAD-3.1.2 | 3.29E-05 | |
18507 | 29 | G/E | 31 | rs794727388 | 0.2884 | None | gnomAD-4.0.0 | 4.34005E-06 | |
18507 | 29 | G/R | 31 | rs749948987 | 0.2884 | None | gnomAD-2.1.1 | 4.03E-06 | |
18507 | 29 | G/R | 31 | rs749948987 | 0.2884 | None | gnomAD-4.0.0 | 1.59295E-06 | |
18508 | 30 | G/E | 32 | None | 0.5912 | None | gnomAD-4.0.0 | 3.1859E-06 | |
18508 | 30 | G/R | 32 | rs1060500511 | 0.5912 | None | gnomAD-2.1.1 | 4.03E-06 | |
18508 | 30 | G/R | 32 | rs1060500511 | 0.5912 | None | gnomAD-4.0.0 | 1.59292E-06 | |
18509 | 31 | D/V | 33 | rs765073012 | 0.2374 | None | gnomAD-2.1.1 | 8.05E-06 | |
18509 | 31 | D/V | 33 | rs765073012 | 0.2374 | None | gnomAD-4.0.0 | 4.77897E-06 | |
18510 | 32 | R/S | 34 | rs1165541106 | 0.8381 | None | gnomAD-2.1.1 | 4.03E-06 | |
18510 | 32 | R/S | 34 | rs1165541106 | 0.8381 | None | gnomAD-3.1.2 | 1.32E-05 | |
18510 | 32 | R/S | 34 | rs1165541106 | 0.8381 | None | gnomAD-4.0.0 | 5.58006E-06 | |
18511 | 33 | I/F | 35 | rs757290658 | 0.2042 | None | gnomAD-2.1.1 | 3.19E-05 | |
18511 | 33 | I/F | 35 | rs757290658 | 0.2042 | None | gnomAD-3.1.2 | 1.32E-05 | |
18511 | 33 | I/F | 35 | rs757290658 | 0.2042 | None | gnomAD-4.0.0 | 1.31563E-05 | |
18511 | 33 | I/S | 35 | rs2053434343 | 0.2042 | None | gnomAD-3.1.2 | 6.58E-06 | |
18511 | 33 | I/S | 35 | rs2053434343 | 0.2042 | None | gnomAD-4.0.0 | 6.58172E-06 | |
18511 | 33 | I/V | 35 | None | 0.2042 | None | gnomAD-4.0.0 | 1.59287E-06 | |
18512 | 34 | K/E | 36 | None | 0.5457 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18513 | 35 | G/A | 37 | rs753550237 | 0.1506 | None | gnomAD-2.1.1 | 4.03E-06 | |
18513 | 35 | G/A | 37 | rs753550237 | 0.1506 | None | gnomAD-3.1.2 | 1.32E-05 | |
18513 | 35 | G/A | 37 | rs753550237 | 0.1506 | None | gnomAD-4.0.0 | 9.30046E-06 | |
18513 | 35 | G/D | 37 | None | 0.1506 | None | gnomAD-4.0.0 | 2.73815E-06 | |
18513 | 35 | G/V | 37 | None | 0.1506 | None | gnomAD-4.0.0 | 6.84539E-07 | |
18514 | 36 | Y/C | 38 | rs764002054 | 0.1205 | None | gnomAD-3.1.2 | 6.58E-06 | |
18514 | 36 | Y/C | 38 | rs764002054 | 0.1205 | None | gnomAD-4.0.0 | 6.5799E-06 | |
18516 | 38 | I/T | 40 | rs146608896 | 0.0782 | None | gnomAD-2.1.1 | 7.00686E-04 | |
18516 | 38 | I/T | 40 | rs146608896 | 0.0782 | None | gnomAD-3.1.2 | 2.45446E-03 | |
18516 | 38 | I/T | 40 | rs146608896 | 0.0782 | None | 1000 genomes | 2.79553E-03 | |
18516 | 38 | I/T | 40 | rs146608896 | 0.0782 | None | gnomAD-4.0.0 | 4.2468E-04 | |
18518 | 40 | K/R | 42 | rs72646823 | 0.1577 | None | gnomAD-2.1.1 | 1.68023E-03 | |
18518 | 40 | K/R | 42 | rs72646823 | 0.1577 | None | gnomAD-3.1.2 | 2.50727E-03 | |
18518 | 40 | K/R | 42 | rs72646823 | 0.1577 | None | 1000 genomes | 2.59585E-03 | |
18518 | 40 | K/R | 42 | rs72646823 | 0.1577 | None | gnomAD-4.0.0 | 1.08186E-03 | |
18519 | 41 | R/K | 43 | None | 0.1610 | None | gnomAD-4.0.0 | 1.36906E-06 | |
18519 | 41 | R/T | 43 | None | 0.1610 | None | gnomAD-4.0.0 | 6.84529E-07 | |
18520 | 42 | T/A | 44 | None | 0.2289 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18520 | 42 | T/I | 44 | None | 0.2289 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18521 | 43 | I/M | 50 | rs887160734 | 0.3869 | None | gnomAD-4.0.0 | 6.84541E-07 | |
18521 | 43 | I/T | 50 | rs538872534 | 0.3869 | None | gnomAD-2.1.1 | 1.61E-05 | |
18521 | 43 | I/T | 50 | rs538872534 | 0.3869 | None | gnomAD-3.1.2 | 2.63E-05 | |
18521 | 43 | I/T | 50 | rs538872534 | 0.3869 | None | 1000 genomes | 1.99681E-04 | |
18521 | 43 | I/T | 50 | rs538872534 | 0.3869 | None | gnomAD-4.0.0 | 9.92036E-06 | |
18521 | 43 | I/V | 50 | None | 0.3869 | None | gnomAD-4.0.0 | 1.5931E-06 | |
18522 | 44 | D/E | 54 | None | 0.7843 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18522 | 44 | D/V | 54 | rs1211576470 | 0.7843 | None | gnomAD-2.1.1 | 4.03E-06 | |
18522 | 44 | D/V | 54 | rs1211576470 | 0.7843 | None | gnomAD-4.0.0 | 1.59308E-06 | |
18523 | 45 | G/A | 60 | None | 0.2209 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18523 | 45 | G/R | 60 | rs1357033884 | 0.2209 | None | gnomAD-2.1.1 | 4.03E-06 | |
18526 | 48 | W/R | 65 | rs771337220 | 0.2302 | None | gnomAD-2.1.1 | 8.06E-06 | |
18526 | 48 | W/R | 65 | rs771337220 | 0.2302 | None | gnomAD-4.0.0 | 6.37273E-06 | |
18527 | 49 | T/I | 66 | rs1344009252 | 0.5517 | None | gnomAD-2.1.1 | 4.03E-06 | |
18527 | 49 | T/I | 66 | rs1344009252 | 0.5517 | None | gnomAD-4.0.0 | 6.8458E-06 | |
18530 | 52 | N/I | 69 | None | 0.2004 | None | gnomAD-4.0.0 | 1.59334E-06 | |
18530 | 52 | N/S | 69 | rs749840185 | 0.2004 | None | gnomAD-2.1.1 | 4.03E-06 | |
18530 | 52 | N/S | 69 | rs749840185 | 0.2004 | None | gnomAD-4.0.0 | 4.78002E-06 | |
18531 | 53 | P/T | 70 | None | 0.5426 | None | gnomAD-4.0.0 | 3.60097E-06 | |
18532 | 54 | D/G | 75 | None | 0.6961 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18532 | 54 | D/H | 75 | rs773425209 | 0.6961 | None | gnomAD-2.1.1 | 4.03E-06 | |
18532 | 54 | D/H | 75 | rs773425209 | 0.6961 | None | gnomAD-4.0.0 | 1.59336E-06 | |
18532 | 54 | D/N | 75 | rs773425209 | 0.6961 | None | gnomAD-2.1.1 | 1.21E-05 | |
18532 | 54 | D/N | 75 | rs773425209 | 0.6961 | None | gnomAD-3.1.2 | 1.97E-05 | |
18532 | 54 | D/N | 75 | rs773425209 | 0.6961 | None | gnomAD-4.0.0 | 5.13138E-06 | |
18533 | 55 | C/R | 77 | rs1397511003 | 0.1039 | None | gnomAD-2.1.1 | 3.19E-05 | |
18533 | 55 | C/R | 77 | rs1397511003 | 0.1039 | None | gnomAD-3.1.2 | 6.58E-06 | |
18533 | 55 | C/R | 77 | rs1397511003 | 0.1039 | None | gnomAD-4.0.0 | 5.58075E-06 | |
18533 | 55 | C/W | 77 | None | 0.1039 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18533 | 55 | C/Y | 77 | rs727503599 | 0.1039 | None | gnomAD-3.1.2 | 6.58E-06 | |
18533 | 55 | C/Y | 77 | rs727503599 | 0.1039 | None | gnomAD-4.0.0 | 6.57999E-06 | |
18535 | 57 | S/C | 88 | rs770105954 | 0.3462 | None | gnomAD-2.1.1 | 8.06E-06 | |
18535 | 57 | S/C | 88 | rs770105954 | 0.3462 | None | gnomAD-4.0.0 | 3.18668E-06 | |
18537 | 59 | T/A | 90 | None | 0.3772 | None | gnomAD-4.0.0 | 1.5935E-06 | |
18537 | 59 | T/I | 90 | rs1027035888 | 0.3772 | None | gnomAD-2.1.1 | 4.03E-06 | |
18537 | 59 | T/I | 90 | rs1027035888 | 0.3772 | None | gnomAD-4.0.0 | 1.59355E-06 | |
18538 | 60 | F/S | 91 | None | 0.2048 | None | gnomAD-4.0.0 | 1.59342E-06 | |
18539 | 61 | V/A | 92 | rs573082979 | 0.3973 | None | gnomAD-2.1.1 | 6.86E-05 | |
18539 | 61 | V/A | 92 | rs573082979 | 0.3973 | None | gnomAD-3.1.2 | 1.97E-05 | |
18539 | 61 | V/A | 92 | rs573082979 | 0.3973 | None | 1000 genomes | 1.99681E-04 | |
18539 | 61 | V/A | 92 | rs573082979 | 0.3973 | None | gnomAD-4.0.0 | 2.79017E-05 | |
18539 | 61 | V/I | 92 | rs1060500557 | 0.3973 | None | gnomAD-4.0.0 | 1.36924E-06 | |
18540 | 62 | V/A | 93 | rs779623773 | 0.0979 | None | gnomAD-2.1.1 | 1.79E-05 | |
18540 | 62 | V/A | 93 | rs779623773 | 0.0979 | None | gnomAD-3.1.2 | 2.63E-05 | |
18540 | 62 | V/A | 93 | rs779623773 | 0.0979 | None | gnomAD-4.0.0 | 1.30222E-05 | |
18540 | 62 | V/L | 93 | rs2053409641 | 0.0979 | None | gnomAD-4.0.0 | 2.40064E-06 | |
18541 | 63 | P/A | 94 | rs749140088 | 0.3605 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18542 | 64 | D/H | 96 | rs1391131193 | 0.7180 | None | gnomAD-2.1.1 | 4.04E-06 | |
18542 | 64 | D/H | 96 | rs1391131193 | 0.7180 | None | gnomAD-4.0.0 | 1.59372E-06 | |
18542 | 64 | D/Y | 96 | rs1391131193 | 0.7180 | None | gnomAD-2.1.1 | 4.04E-06 | |
18542 | 64 | D/Y | 96 | rs1391131193 | 0.7180 | None | gnomAD-3.1.2 | 6.58E-06 | |
18542 | 64 | D/Y | 96 | rs1391131193 | 0.7180 | None | gnomAD-4.0.0 | 5.13189E-06 | |
18543 | 65 | L/I | 97 | rs374878433 | 0.1148 | None | gnomAD-2.1.1 | 1.21E-05 | |
18543 | 65 | L/I | 97 | rs374878433 | 0.1148 | None | gnomAD-4.0.0 | 4.78086E-06 | |
18543 | 65 | L/V | 97 | rs374878433 | 0.1148 | None | gnomAD-2.1.1 | 4.04E-06 | |
18543 | 65 | L/V | 97 | rs374878433 | 0.1148 | None | gnomAD-4.0.0 | 6.37448E-06 | |
18544 | 66 | L/P | 98 | None | 0.7598 | None | gnomAD-4.0.0 | 4.78141E-06 | |
18544 | 66 | L/V | 98 | rs924109444 | 0.7598 | None | gnomAD-3.1.2 | 1.97E-05 | |
18544 | 66 | L/V | 98 | rs924109444 | 0.7598 | None | gnomAD-4.0.0 | 1.97384E-05 | |
18546 | 68 | E/Q | 100 | None | 0.4565 | None | gnomAD-4.0.0 | 1.59393E-06 | |
18550 | 72 | F/C | 105 | rs553264256 | 0.2485 | None | gnomAD-3.1.2 | 6.58E-06 | |
18550 | 72 | F/C | 105 | rs553264256 | 0.2485 | None | 1000 genomes | 1.99681E-04 | |
18550 | 72 | F/C | 105 | rs553264256 | 0.2485 | None | gnomAD-4.0.0 | 6.57358E-06 | |
18550 | 72 | F/L | 105 | rs1248662230 | 0.2485 | None | gnomAD-2.1.1 | 4.05E-06 | |
18550 | 72 | F/L | 105 | rs1248662230 | 0.2485 | None | gnomAD-4.0.0 | 1.5964E-06 | |
18551 | 73 | F/S | 106 | rs370461936 | 0.1181 | None | gnomAD-4.0.0 | 6.38963E-06 | |
18552 | 74 | R/C | 107 | rs763966394 | 0.1025 | None | gnomAD-2.1.1 | 3.19E-05 | |
18552 | 74 | R/C | 107 | rs763966394 | 0.1025 | None | gnomAD-3.1.2 | 1.32E-05 | |
18552 | 74 | R/C | 107 | rs763966394 | 0.1025 | None | gnomAD-4.0.0 | 9.31205E-06 | |
18552 | 74 | R/H | 107 | rs201774108 | 0.1025 | None | gnomAD-2.1.1 | 1.1872E-04 | |
18552 | 74 | R/H | 107 | rs201774108 | 0.1025 | None | gnomAD-3.1.2 | 1.18429E-04 | |
18552 | 74 | R/H | 107 | rs201774108 | 0.1025 | None | gnomAD-4.0.0 | 1.31E-04 | |
18552 | 74 | R/P | 107 | rs201774108 | 0.1025 | None | gnomAD-2.1.1 | 3.19E-05 | |
18552 | 74 | R/P | 107 | rs201774108 | 0.1025 | None | gnomAD-3.1.2 | 6.58E-06 | |
18552 | 74 | R/P | 107 | rs201774108 | 0.1025 | None | gnomAD-4.0.0 | 1.24171E-06 | |
18553 | 75 | V/L | 108 | rs1249794224 | 0.0780 | None | gnomAD-2.1.1 | 4.05E-06 | |
18553 | 75 | V/L | 108 | rs1249794224 | 0.0780 | None | gnomAD-4.0.0 | 6.85663E-07 | |
18553 | 75 | V/M | 108 | None | 0.0780 | None | gnomAD-4.0.0 | 6.85663E-07 | |
18554 | 76 | R/Q | 109 | rs202126861 | 0.1739 | None | gnomAD-2.1.1 | 3.6E-05 | |
18554 | 76 | R/Q | 109 | rs202126861 | 0.1739 | None | gnomAD-3.1.2 | 6.58E-05 | |
18554 | 76 | R/Q | 109 | rs202126861 | 0.1739 | None | 1000 genomes | 1.99681E-04 | |
18554 | 76 | R/Q | 109 | rs202126861 | 0.1739 | None | gnomAD-4.0.0 | 2.04979E-05 | |
18555 | 77 | A/V | 110 | rs759902646 | 0.0944 | None | gnomAD-2.1.1 | 4.06E-06 | |
18555 | 77 | A/V | 110 | rs759902646 | 0.0944 | None | gnomAD-3.1.2 | 6.58E-06 | |
18556 | 78 | E/K | 111 | None | 0.2431 | None | gnomAD-4.0.0 | 3.20575E-06 | |
18558 | 80 | R/C | 113 | rs774262905 | 0.4978 | None | gnomAD-2.1.1 | 1.22E-05 | |
18558 | 80 | R/C | 113 | rs774262905 | 0.4978 | None | gnomAD-4.0.0 | 1.37327E-05 | |
18558 | 80 | R/H | 113 | rs115867512 | 0.4978 | None | gnomAD-2.1.1 | 7.95E-05 | |
18558 | 80 | R/H | 113 | rs115867512 | 0.4978 | None | gnomAD-3.1.2 | 1.51314E-04 | |
18558 | 80 | R/H | 113 | rs115867512 | 0.4978 | None | 1000 genomes | 1.99681E-04 | |
18558 | 80 | R/H | 113 | rs115867512 | 0.4978 | None | gnomAD-4.0.0 | 1.1009E-04 | |
18559 | 81 | F/V | 114 | None | 0.6537 | None | gnomAD-4.0.0 | 1.60617E-06 | |
18560 | 82 | G/D | 115 | rs1334608070 | 0.2027 | None | gnomAD-4.0.0 | 1.60925E-06 | |
18560 | 82 | G/V | 115 | rs1334608070 | 0.2027 | None | gnomAD-4.0.0 | 1.60926E-06 | |
18561 | 83 | I/V | 117 | rs1327467989 | 0.4058 | None | gnomAD-2.1.1 | 4.09E-06 | |
18561 | 83 | I/V | 117 | rs1327467989 | 0.4058 | None | gnomAD-3.1.2 | 6.58E-06 | |
18561 | 83 | I/V | 117 | rs1327467989 | 0.4058 | None | gnomAD-4.0.0 | 6.57696E-06 | |
18562 | 84 | G/D | 118 | None | 0.1549 | None | gnomAD-4.0.0 | 1.37787E-06 | |
18563 | 85 | P/L | 119 | rs1188505019 | 0.3716 | None | gnomAD-3.1.2 | 1.32E-05 | |
18563 | 85 | P/L | 119 | rs1188505019 | 0.3716 | None | gnomAD-4.0.0 | 3.12233E-06 | |
18565 | 87 | V/M | 121 | rs2053387204 | 0.1858 | None | gnomAD-3.1.2 | 6.58E-06 | |
18565 | 87 | V/M | 121 | rs2053387204 | 0.1858 | None | gnomAD-4.0.0 | 3.13507E-06 | |
18567 | 89 | T/S | 123 | rs773703444 | 0.1865 | None | gnomAD-2.1.1 | 4.3E-06 | |
18567 | 89 | T/S | 123 | rs773703444 | 0.1865 | None | gnomAD-4.0.0 | 1.65949E-06 | |
18569 | 91 | Q/P | 125 | None | 0.8826 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18570 | 92 | R/G | 126 | None | 0.6566 | None | gnomAD-4.0.0 | 1.69102E-06 | |
18570 | 92 | R/K | 126 | rs1427580402 | 0.6566 | None | gnomAD-2.1.1 | 9.12E-06 | |
18570 | 92 | R/K | 126 | rs1427580402 | 0.6566 | None | gnomAD-3.1.2 | 6.58E-06 | |
18570 | 92 | R/K | 126 | rs1427580402 | 0.6566 | None | gnomAD-4.0.0 | 9.50676E-06 | |
18571 | 93 | T/I | 127 | None | 0.2283 | None | gnomAD-4.0.0 | 2.1328E-06 | |
18572 | 94 | T/A | 129 | rs537445357 | 0.2814 | None | gnomAD-2.1.1 | 1.66E-05 | |
18572 | 94 | T/A | 129 | rs537445357 | 0.2814 | None | gnomAD-3.1.2 | 4.6E-05 | |
18572 | 94 | T/A | 129 | rs537445357 | 0.2814 | None | 1000 genomes | 1.99681E-04 | |
18572 | 94 | T/A | 129 | rs537445357 | 0.2814 | None | gnomAD-4.0.0 | 1.02665E-05 | |
18572 | 94 | T/I | 129 | None | 0.2814 | None | gnomAD-4.0.0 | 4.26862E-06 | |
18573 | 95 | A/S | 130 | None | 0.0694 | None | gnomAD-4.0.0 | 1.75634E-06 | |
18574 | 96 | R/G | 131 | rs2053379995 | 0.5219 | None | gnomAD-4.0.0 | 1.23239E-05 | |
18574 | 96 | R/S | 131 | None | 0.5219 | None | gnomAD-4.0.0 | 1.20032E-06 | |
18575 | 97 | D/Y | 132 | rs368524442 | 0.4224 | None | gnomAD-2.1.1 | 4.91E-06 | |
18575 | 97 | D/Y | 132 | rs368524442 | 0.4224 | None | gnomAD-4.0.0 | 1.77243E-06 |