10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D | L | S | T | M | P | Q | K | T | I | H | V | P | A | G | R | P | V | E | L | V | I | P | I | A | G | R | P | P | P | A | A | S | W | F | F | A | G | S | K | L | R | E | S | E | R | V | T | V | E | T | H | T | K | V | A | K | L | T | I | R | E | T | T | I | R | D | T | G | E | Y | T | L | E | L | K | N | V | T | G | T | T | S | E | T | I | K | V | I | I | L | D | K | P | G | P | P | T | G | P | I | K | I | D | E | I | D | A | T | S | I | T | I | S | W | E | P | P | E | L | D | G | G | A | P | L | S | G | Y | V | V | E | Q | R | D | A | H | R | P | G | W | L | P | V | S | E | S | V | T | R | S | T | F | K | F | T | R | L | T | E | G | N | E | Y | V | F | R | V | A | A | T | N | R | F | G | I | G | S | Y | L | Q | S | E | V | I | E | C | R | S | S |
D | L | S | T | M | P | Q | K | T | I | H | V | P | A | G | R | P | V | E | L | V | I | P | I | A | G | R | P | P | P | A | A | S | W | F | F | A | G | S | K | L | R | E | S | E | R | V | T | V | E | T | H | T | K | V | A | K | L | T | I | R | E | T | T | I | R | D | T | G | E | Y | T | L | E | L | K | N | V | T | G | T | T | S | E | T | I | K | V | I | I | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
32307 | 1 | D/A | 1 | None | 0.5566 | None | gnomAD-4.0.0 | 2.06866E-06 | |
32307 | 1 | D/G | 1 | rs942897847 | 0.5566 | None | gnomAD-2.1.1 | 1.82E-05 | |
32307 | 1 | D/G | 1 | rs942897847 | 0.5566 | None | gnomAD-3.1.2 | 3.29E-05 | |
32307 | 1 | D/G | 1 | rs942897847 | 0.5566 | None | gnomAD-4.0.0 | 6.24064E-06 | |
32307 | 1 | D/N | 1 | rs1474585549 | 0.5566 | None | gnomAD-2.1.1 | 1.24E-05 | |
32307 | 1 | D/N | 1 | rs1474585549 | 0.5566 | None | gnomAD-3.1.2 | 6.58E-06 | |
32307 | 1 | D/N | 1 | rs1474585549 | 0.5566 | None | gnomAD-4.0.0 | 1.12479E-05 | |
32308 | 2 | L/F | 2 | None | 0.2921 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32308 | 2 | L/R | 2 | rs749636019 | 0.2921 | None | gnomAD-2.1.1 | 4.11E-06 | |
32309 | 3 | S/P | 3 | None | 0.4910 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32310 | 4 | T/A | 4 | rs542208825 | 0.7089 | None | gnomAD-2.1.1 | 4.08E-06 | |
32310 | 4 | T/A | 4 | rs542208825 | 0.7089 | None | gnomAD-4.0.0 | 6.88136E-07 | |
32310 | 4 | T/P | 4 | rs542208825 | 0.7089 | None | gnomAD-2.1.1 | 2.89E-05 | |
32310 | 4 | T/P | 4 | rs542208825 | 0.7089 | None | gnomAD-3.1.2 | 1.64292E-04 | |
32310 | 4 | T/P | 4 | rs542208825 | 0.7089 | None | 1000 genomes | 1.99681E-04 | |
32310 | 4 | T/P | 4 | rs542208825 | 0.7089 | None | gnomAD-4.0.0 | 4.5469E-05 | |
32311 | 5 | M/T | 5 | None | 0.2718 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32311 | 5 | M/V | 5 | rs727504981 | 0.2718 | None | gnomAD-2.1.1 | 1.63E-05 | |
32311 | 5 | M/V | 5 | rs727504981 | 0.2718 | None | gnomAD-3.1.2 | 1.31E-05 | |
32311 | 5 | M/V | 5 | rs727504981 | 0.2718 | None | gnomAD-4.0.0 | 1.55515E-05 | |
32312 | 6 | P/L | 7 | None | 0.4965 | None | gnomAD-4.0.0 | 1.59811E-06 | |
32312 | 6 | P/S | 7 | rs1024823449 | 0.4965 | None | gnomAD-2.1.1 | 8.09E-06 | |
32312 | 6 | P/S | 7 | rs1024823449 | 0.4965 | None | gnomAD-3.1.2 | 1.97E-05 | |
32312 | 6 | P/S | 7 | rs1024823449 | 0.4965 | None | gnomAD-4.0.0 | 5.58722E-06 | |
32313 | 7 | Q/L | 8 | None | 0.5940 | None | gnomAD-4.0.0 | 6.85262E-07 | |
32313 | 7 | Q/R | 8 | None | 0.5940 | None | gnomAD-4.0.0 | 6.85262E-07 | |
32314 | 8 | K/E | 9 | rs1695288601 | 0.3875 | None | gnomAD-4.0.0 | 4.11114E-06 | |
32315 | 9 | T/A | 11 | rs1363712214 | 0.2929 | None | gnomAD-2.1.1 | 4.04E-06 | |
32315 | 9 | T/A | 11 | rs1363712214 | 0.2929 | None | gnomAD-4.0.0 | 1.5955E-06 | |
32315 | 9 | T/I | 11 | rs56027402 | 0.2929 | None | gnomAD-2.1.1 | 6.00651E-03 | |
32315 | 9 | T/I | 11 | rs56027402 | 0.2929 | None | gnomAD-3.1.2 | 1.79995E-02 | |
32315 | 9 | T/I | 11 | rs56027402 | 0.2929 | None | 1000 genomes | 1.63738E-02 | |
32315 | 9 | T/I | 11 | rs56027402 | 0.2929 | None | gnomAD-4.0.0 | 3.40756E-03 | |
32315 | 9 | T/N | 11 | rs56027402 | 0.2929 | None | gnomAD-3.1.2 | 6.58E-06 | |
32315 | 9 | T/N | 11 | rs56027402 | 0.2929 | None | gnomAD-4.0.0 | 3.72233E-06 | |
32315 | 9 | T/S | 11 | None | 0.2929 | None | gnomAD-4.0.0 | 1.5955E-06 | |
32316 | 10 | I/S | 13 | None | 0.2538 | None | gnomAD-4.0.0 | 6.84562E-07 | |
32316 | 10 | I/T | 13 | rs1366924258 | 0.2538 | None | gnomAD-4.0.0 | 6.84562E-07 | |
32316 | 10 | I/V | 13 | None | 0.2538 | None | gnomAD-4.0.0 | 1.59336E-06 | |
32317 | 11 | H/D | 14 | rs779019939 | 0.5388 | None | gnomAD-2.1.1 | 4.04E-06 | |
32317 | 11 | H/D | 14 | rs779019939 | 0.5388 | None | gnomAD-3.1.2 | 6.57E-06 | |
32317 | 11 | H/D | 14 | rs779019939 | 0.5388 | None | gnomAD-4.0.0 | 3.84689E-06 | |
32317 | 11 | H/Y | 14 | None | 0.5388 | None | gnomAD-4.0.0 | 1.5931E-06 | |
32319 | 13 | P/A | 18 | rs1395301319 | 0.4463 | None | gnomAD-2.1.1 | 4.04E-06 | |
32319 | 13 | P/A | 18 | rs1395301319 | 0.4463 | None | gnomAD-4.0.0 | 1.59289E-06 | |
32319 | 13 | P/L | 18 | None | 0.4463 | None | gnomAD-4.0.0 | 1.20033E-06 | |
32320 | 14 | A/P | 23 | None | 0.2735 | None | gnomAD-4.0.0 | 1.59217E-06 | |
32320 | 14 | A/S | 23 | rs753692640 | 0.2735 | None | gnomAD-2.1.1 | 4.04E-06 | |
32320 | 14 | A/S | 23 | rs753692640 | 0.2735 | None | gnomAD-4.0.0 | 1.59217E-06 | |
32321 | 15 | G/D | 24 | rs1421966339 | 0.3272 | None | gnomAD-2.1.1 | 4.04E-06 | |
32321 | 15 | G/D | 24 | rs1421966339 | 0.3272 | None | gnomAD-4.0.0 | 1.59212E-06 | |
32322 | 16 | R/T | 25 | rs1187427678 | 0.6906 | None | gnomAD-2.1.1 | 4.04E-06 | |
32322 | 16 | R/T | 25 | rs1187427678 | 0.6906 | None | gnomAD-3.1.2 | 6.57E-06 | |
32322 | 16 | R/T | 25 | rs1187427678 | 0.6906 | None | gnomAD-4.0.0 | 4.33847E-06 | |
32323 | 17 | P/L | 26 | rs1695272344 | 0.3869 | None | gnomAD-3.1.2 | 6.57E-06 | |
32323 | 17 | P/L | 26 | rs1695272344 | 0.3869 | None | gnomAD-4.0.0 | 6.57341E-06 | |
32324 | 18 | V/A | 28 | rs760371027 | 0.1632 | None | gnomAD-2.1.1 | 4.04E-05 | |
32324 | 18 | V/A | 28 | rs760371027 | 0.1632 | None | gnomAD-3.1.2 | 6.57E-06 | |
32324 | 18 | V/A | 28 | rs760371027 | 0.1632 | None | gnomAD-4.0.0 | 1.48743E-05 | |
32324 | 18 | V/I | 28 | rs1454125243 | 0.1632 | None | gnomAD-2.1.1 | 4.04E-06 | |
32324 | 18 | V/I | 28 | rs1454125243 | 0.1632 | None | gnomAD-4.0.0 | 3.1832E-06 | |
32325 | 19 | E/Q | 29 | rs1196060333 | 0.6086 | None | gnomAD-2.1.1 | 4.04E-06 | |
32325 | 19 | E/Q | 29 | rs1196060333 | 0.6086 | None | gnomAD-4.0.0 | 2.7371E-06 | |
32326 | 20 | L/V | 30 | rs752927644 | 0.1628 | None | gnomAD-2.1.1 | 7.17E-06 | |
32326 | 20 | L/V | 30 | rs752927644 | 0.1628 | None | gnomAD-3.1.2 | 6.57E-06 | |
32326 | 20 | L/V | 30 | rs752927644 | 0.1628 | None | gnomAD-4.0.0 | 2.47885E-06 | |
32327 | 21 | V/A | 31 | None | 0.4740 | None | gnomAD-4.0.0 | 1.36843E-06 | |
32327 | 21 | V/M | 31 | rs956461857 | 0.4740 | None | gnomAD-2.1.1 | 4.04E-06 | |
32327 | 21 | V/M | 31 | rs956461857 | 0.4740 | None | gnomAD-4.0.0 | 6.36519E-06 | |
32329 | 23 | P/S | 34 | rs759641873 | 0.3553 | None | gnomAD-2.1.1 | 8.08E-06 | |
32329 | 23 | P/S | 34 | rs759641873 | 0.3553 | None | gnomAD-4.0.0 | 1.36842E-06 | |
32329 | 23 | P/T | 34 | None | 0.3553 | None | gnomAD-4.0.0 | 6.84211E-07 | |
32330 | 24 | I/L | 35 | None | 0.1592 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32330 | 24 | I/T | 35 | rs201023432 | 0.1592 | None | gnomAD-2.1.1 | 5.73E-05 | |
32330 | 24 | I/T | 35 | rs201023432 | 0.1592 | None | gnomAD-3.1.2 | 8.54E-05 | |
32330 | 24 | I/T | 35 | rs201023432 | 0.1592 | None | gnomAD-4.0.0 | 2.20611E-04 | |
32333 | 27 | R/C | 41 | rs368918455 | 0.6563 | None | gnomAD-2.1.1 | 7.17E-06 | |
32333 | 27 | R/C | 41 | rs368918455 | 0.6563 | None | gnomAD-3.1.2 | 2.63E-05 | |
32333 | 27 | R/C | 41 | rs368918455 | 0.6563 | None | gnomAD-4.0.0 | 6.19715E-06 | |
32333 | 27 | R/H | 41 | rs138846756 | 0.6563 | None | gnomAD-2.1.1 | 4.26594E-04 | |
32333 | 27 | R/H | 41 | rs138846756 | 0.6563 | None | gnomAD-3.1.2 | 9.40406E-04 | |
32333 | 27 | R/H | 41 | rs138846756 | 0.6563 | None | 1000 genomes | 1.19808E-03 | |
32333 | 27 | R/H | 41 | rs138846756 | 0.6563 | None | gnomAD-4.0.0 | 2.21846E-04 | |
32334 | 28 | P/L | 42 | rs748395939 | 0.4327 | None | gnomAD-2.1.1 | 1.21E-05 | |
32334 | 28 | P/L | 42 | rs748395939 | 0.4327 | None | gnomAD-4.0.0 | 2.05259E-06 | |
32334 | 28 | P/R | 42 | rs748395939 | 0.4327 | None | gnomAD-4.0.0 | 4.78938E-06 | |
32335 | 29 | P/L | 43 | rs771804243 | 0.5503 | None | gnomAD-4.0.0 | 1.3684E-06 | |
32335 | 29 | P/R | 43 | rs771804243 | 0.5503 | None | gnomAD-2.1.1 | 8.07E-06 | |
32335 | 29 | P/R | 43 | rs771804243 | 0.5503 | None | gnomAD-4.0.0 | 4.1052E-06 | |
32335 | 29 | P/S | 43 | rs779886174 | 0.5503 | None | gnomAD-2.1.1 | 8.07E-06 | |
32335 | 29 | P/S | 43 | rs779886174 | 0.5503 | None | gnomAD-4.0.0 | 3.18243E-06 | |
32336 | 30 | P/L | 44 | rs745496890 | 0.2261 | None | gnomAD-2.1.1 | 1.61E-05 | |
32336 | 30 | P/L | 44 | rs745496890 | 0.2261 | None | gnomAD-4.0.0 | 3.42096E-06 | |
32337 | 31 | A/T | 45 | None | 0.4560 | None | gnomAD-4.0.0 | 1.59121E-06 | |
32338 | 32 | A/G | 46 | None | 0.2745 | None | gnomAD-4.0.0 | 2.05258E-06 | |
32339 | 33 | S/P | 47 | None | 0.2434 | None | gnomAD-4.0.0 | 2.73676E-06 | |
32341 | 35 | F/L | 49 | None | 0.2024 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32342 | 36 | F/L | 50 | rs1559116130 | 0.2256 | None | gnomAD-2.1.1 | 4.03E-06 | |
32342 | 36 | F/L | 50 | rs1559116130 | 0.2256 | None | gnomAD-3.1.2 | 6.57E-06 | |
32342 | 36 | F/L | 50 | rs1559116130 | 0.2256 | None | gnomAD-4.0.0 | 3.84326E-06 | |
32343 | 37 | A/G | 51 | None | 0.5606 | None | gnomAD-4.0.0 | 1.59124E-06 | |
32343 | 37 | A/T | 51 | rs539206860 | 0.5606 | None | gnomAD-3.1.2 | 6.58E-06 | |
32343 | 37 | A/T | 51 | rs539206860 | 0.5606 | None | gnomAD-4.0.0 | 2.56249E-06 | |
32344 | 38 | G/S | 52 | rs778602950 | 0.5307 | None | gnomAD-2.1.1 | 8.07E-06 | |
32344 | 38 | G/S | 52 | rs778602950 | 0.5307 | None | gnomAD-3.1.2 | 1.97E-05 | |
32344 | 38 | G/S | 52 | rs778602950 | 0.5307 | None | gnomAD-4.0.0 | 1.48734E-05 | |
32346 | 40 | K/Q | 56 | rs372803018 | 0.4538 | None | gnomAD-2.1.1 | 4.03E-06 | |
32346 | 40 | K/Q | 56 | rs372803018 | 0.4538 | None | gnomAD-3.1.2 | 3.94E-05 | |
32346 | 40 | K/Q | 56 | rs372803018 | 0.4538 | None | gnomAD-4.0.0 | 5.57732E-06 | |
32347 | 41 | L/V | 58 | None | 0.2658 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32348 | 42 | R/K | 69 | None | 0.9284 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32350 | 44 | S/P | 73 | None | 0.3045 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32351 | 45 | E/G | 102 | rs879109633 | 1.0895 | None | gnomAD-4.0.0 | 3.18245E-06 | |
32351 | 45 | E/K | 102 | rs727504879 | 1.0895 | None | gnomAD-2.1.1 | 1.21E-05 | |
32351 | 45 | E/K | 102 | rs727504879 | 1.0895 | None | gnomAD-3.1.2 | 1.31E-05 | |
32351 | 45 | E/K | 102 | rs727504879 | 1.0895 | None | gnomAD-4.0.0 | 8.05613E-06 | |
32352 | 46 | R/C | 115 | rs753874904 | 0.3030 | None | gnomAD-2.1.1 | 3.63E-05 | |
32352 | 46 | R/C | 115 | rs753874904 | 0.3030 | None | gnomAD-3.1.2 | 1.31E-05 | |
32352 | 46 | R/C | 115 | rs753874904 | 0.3030 | None | gnomAD-4.0.0 | 2.16904E-05 | |
32352 | 46 | R/G | 115 | rs753874904 | 0.3030 | None | gnomAD-2.1.1 | 4.03E-06 | |
32352 | 46 | R/G | 115 | rs753874904 | 0.3030 | None | gnomAD-4.0.0 | 1.36843E-06 | |
32352 | 46 | R/H | 115 | rs575939045 | 0.3030 | None | gnomAD-2.1.1 | 7.51E-05 | |
32352 | 46 | R/H | 115 | rs575939045 | 0.3030 | None | gnomAD-3.1.2 | 1.1177E-04 | |
32352 | 46 | R/H | 115 | rs575939045 | 0.3030 | None | 1000 genomes | 3.99361E-04 | |
32352 | 46 | R/H | 115 | rs575939045 | 0.3030 | None | gnomAD-4.0.0 | 1.50579E-04 | |
32352 | 46 | R/L | 115 | rs575939045 | 0.3030 | None | gnomAD-3.1.2 | 6.57E-06 | |
32352 | 46 | R/L | 115 | rs575939045 | 0.3030 | None | gnomAD-4.0.0 | 6.57471E-06 | |
32352 | 46 | R/S | 115 | None | 0.3030 | None | gnomAD-4.0.0 | 6.84216E-07 | |
32353 | 47 | V/I | 121 | rs1250490166 | 0.1647 | None | gnomAD-2.1.1 | 4.03E-06 | |
32353 | 47 | V/I | 121 | rs1250490166 | 0.1647 | None | gnomAD-4.0.0 | 1.36841E-06 | |
32354 | 48 | T/I | 122 | None | 0.4146 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32355 | 49 | V/G | 123 | None | 0.2907 | None | gnomAD-4.0.0 | 1.20032E-06 | |
32356 | 50 | E/A | 125 | rs368184712 | 0.4632 | None | gnomAD-2.1.1 | 8.05E-06 | |
32356 | 50 | E/A | 125 | rs368184712 | 0.4632 | None | gnomAD-3.1.2 | 1.31E-05 | |
32356 | 50 | E/A | 125 | rs368184712 | 0.4632 | None | gnomAD-4.0.0 | 1.42533E-05 | |
32357 | 51 | T/I | 127 | rs375538626 | 0.4354 | None | gnomAD-2.1.1 | 1.61E-05 | |
32357 | 51 | T/I | 127 | rs375538626 | 0.4354 | None | gnomAD-4.0.0 | 7.52626E-06 | |
32357 | 51 | T/S | 127 | rs375538626 | 0.4354 | None | gnomAD-2.1.1 | 8.05E-06 | |
32357 | 51 | T/S | 127 | rs375538626 | 0.4354 | None | gnomAD-3.1.2 | 6.57E-06 | |
32357 | 51 | T/S | 127 | rs375538626 | 0.4354 | None | gnomAD-4.0.0 | 6.19706E-06 | |
32359 | 53 | T/I | 131 | rs759803579 | 0.8610 | None | gnomAD-2.1.1 | 4.03E-06 | |
32359 | 53 | T/I | 131 | rs759803579 | 0.8610 | None | gnomAD-4.0.0 | 2.05261E-06 | |
32360 | 54 | K/E | 134 | None | 0.8021 | None | gnomAD-4.0.0 | 6.842E-07 | |
32360 | 54 | K/Q | 134 | rs751750046 | 0.8021 | None | gnomAD-2.1.1 | 4.03E-06 | |
32360 | 54 | K/Q | 134 | rs751750046 | 0.8021 | None | gnomAD-4.0.0 | 2.0526E-06 | |
32361 | 55 | V/E | 135 | rs773186045 | 0.2647 | None | gnomAD-2.1.1 | 7.15E-06 | |
32361 | 55 | V/E | 135 | rs773186045 | 0.2647 | None | gnomAD-3.1.2 | 6.58E-06 | |
32361 | 55 | V/E | 135 | rs773186045 | 0.2647 | None | gnomAD-4.0.0 | 4.95772E-06 | |
32361 | 55 | V/I | 135 | rs766538774 | 0.2647 | None | gnomAD-2.1.1 | 1.07E-05 | |
32361 | 55 | V/I | 135 | rs766538774 | 0.2647 | None | gnomAD-3.1.2 | 2.63E-05 | |
32361 | 55 | V/I | 135 | rs766538774 | 0.2647 | None | gnomAD-4.0.0 | 6.19706E-06 | |
32361 | 55 | V/L | 135 | rs766538774 | 0.2647 | None | gnomAD-2.1.1 | 4.02E-06 | |
32361 | 55 | V/L | 135 | rs766538774 | 0.2647 | None | gnomAD-4.0.0 | 6.84197E-07 | |
32362 | 56 | A/G | 136 | rs773773028 | 0.1047 | None | gnomAD-2.1.1 | 8.05E-06 | |
32362 | 56 | A/G | 136 | rs773773028 | 0.1047 | None | gnomAD-4.0.0 | 2.05261E-06 | |
32362 | 56 | A/V | 136 | rs773773028 | 0.1047 | None | gnomAD-2.1.1 | 4.83E-05 | |
32362 | 56 | A/V | 136 | rs773773028 | 0.1047 | None | gnomAD-4.0.0 | 1.09473E-05 | |
32365 | 59 | T/I | 139 | None | 0.1941 | None | gnomAD-4.0.0 | 1.59123E-06 | |
32365 | 59 | T/S | 139 | None | 0.1941 | None | gnomAD-4.0.0 | 3.18246E-06 | |
32366 | 60 | I/S | 140 | rs1695213145 | 0.1191 | None | gnomAD-4.0.0 | 1.59121E-06 | |
32366 | 60 | I/V | 140 | rs1304811622 | 0.1191 | None | gnomAD-2.1.1 | 4.02E-06 | |
32367 | 61 | R/C | 141 | rs202064385 | 0.6835 | None | gnomAD-2.1.1 | 4.10723E-04 | |
32367 | 61 | R/C | 141 | rs202064385 | 0.6835 | None | gnomAD-3.1.2 | 3.5509E-04 | |
32367 | 61 | R/C | 141 | rs202064385 | 0.6835 | None | gnomAD-4.0.0 | 3.01787E-04 | |
32367 | 61 | R/H | 141 | rs777181557 | 0.6835 | None | gnomAD-2.1.1 | 1.07E-05 | |
32367 | 61 | R/H | 141 | rs777181557 | 0.6835 | None | gnomAD-3.1.2 | 1.31E-05 | |
32367 | 61 | R/H | 141 | rs777181557 | 0.6835 | None | gnomAD-4.0.0 | 1.48732E-05 | |
32368 | 62 | E/D | 143 | None | 0.8126 | None | gnomAD-4.0.0 | 1.20034E-06 | |
32368 | 62 | E/K | 143 | rs1695208937 | 0.8126 | None | gnomAD-3.1.2 | 6.57E-06 | |
32368 | 62 | E/K | 143 | rs1695208937 | 0.8126 | None | gnomAD-4.0.0 | 6.57402E-06 | |
32369 | 63 | T/I | 144 | rs559194338 | 0.1230 | None | gnomAD-2.1.1 | 4.02E-06 | |
32369 | 63 | T/I | 144 | rs559194338 | 0.1230 | None | gnomAD-3.1.2 | 1.31E-05 | |
32369 | 63 | T/I | 144 | rs559194338 | 0.1230 | None | 1000 genomes | 3.99361E-04 | |
32369 | 63 | T/I | 144 | rs559194338 | 0.1230 | None | gnomAD-4.0.0 | 1.85898E-06 | |
32369 | 63 | T/N | 144 | None | 0.1230 | None | gnomAD-4.0.0 | 1.36843E-06 | |
32369 | 63 | T/S | 144 | None | 0.1230 | None | gnomAD-4.0.0 | 1.59122E-06 | |
32370 | 64 | T/N | 145 | rs146098114 | 0.3514 | None | gnomAD-2.1.1 | 2.41E-05 | |
32370 | 64 | T/N | 145 | rs146098114 | 0.3514 | None | gnomAD-3.1.2 | 1.97E-05 | |
32370 | 64 | T/N | 145 | rs146098114 | 0.3514 | None | gnomAD-4.0.0 | 2.56184E-05 | |
32371 | 65 | I/S | 146 | rs748682168 | 0.2158 | None | gnomAD-2.1.1 | 4.02E-06 | |
32371 | 65 | I/S | 146 | rs748682168 | 0.2158 | None | gnomAD-3.1.2 | 6.57E-06 | |
32371 | 65 | I/S | 146 | rs748682168 | 0.2158 | None | gnomAD-4.0.0 | 3.22242E-05 | |
32371 | 65 | I/V | 146 | rs397517766 | 0.2158 | None | gnomAD-2.1.1 | 1.07E-05 | |
32371 | 65 | I/V | 146 | rs397517766 | 0.2158 | None | gnomAD-3.1.2 | 3.94E-05 | |
32371 | 65 | I/V | 146 | rs397517766 | 0.2158 | None | gnomAD-4.0.0 | 6.63056E-05 | |
32372 | 66 | R/G | 148 | rs1298215224 | 0.6939 | None | gnomAD-2.1.1 | 3.19E-05 | |
32372 | 66 | R/G | 148 | rs1298215224 | 0.6939 | None | gnomAD-3.1.2 | 6.57E-06 | |
32372 | 66 | R/G | 148 | rs1298215224 | 0.6939 | None | gnomAD-4.0.0 | 5.07563E-06 | |
32373 | 67 | D/N | 149 | None | 0.1885 | None | gnomAD-4.0.0 | 1.59125E-06 | |
32377 | 71 | Y/C | 154 | None | 0.1153 | None | gnomAD-4.0.0 | 1.20033E-06 | |
32377 | 71 | Y/H | 154 | rs1695198854 | 0.1153 | None | gnomAD-4.0.0 | 1.20033E-06 | |
32378 | 72 | T/I | 155 | None | 0.2160 | None | gnomAD-4.0.0 | 1.59126E-06 | |
32378 | 72 | T/P | 155 | None | 0.2160 | None | gnomAD-4.0.0 | 1.59125E-06 | |
32379 | 73 | L/F | 156 | rs1361697291 | 0.1236 | None | gnomAD-2.1.1 | 6.37E-05 | |
32379 | 73 | L/F | 156 | rs1361697291 | 0.1236 | None | gnomAD-3.1.2 | 6.57E-06 | |
32379 | 73 | L/F | 156 | rs1361697291 | 0.1236 | None | gnomAD-4.0.0 | 6.08986E-06 | |
32380 | 74 | E/A | 157 | None | 0.3185 | None | gnomAD-4.0.0 | 3.42106E-06 | |
32381 | 75 | L/M | 158 | None | 0.1923 | None | gnomAD-4.0.0 | 6.84212E-07 | |
32382 | 76 | K/M | 159 | rs748057827 | 0.5972 | None | gnomAD-2.1.1 | 4.02E-06 | |
32382 | 76 | K/M | 159 | rs748057827 | 0.5972 | None | gnomAD-4.0.0 | 1.59129E-06 | |
32382 | 76 | K/N | 159 | rs781006271 | 0.5972 | None | gnomAD-2.1.1 | 8.04E-06 | |
32382 | 76 | K/N | 159 | rs781006271 | 0.5972 | None | gnomAD-3.1.2 | 6.57E-06 | |
32382 | 76 | K/N | 159 | rs781006271 | 0.5972 | None | gnomAD-4.0.0 | 6.81677E-06 | |
32384 | 78 | V/I | 162 | rs754763137 | 0.7391 | None | gnomAD-2.1.1 | 4.02E-06 | |
32384 | 78 | V/I | 162 | rs754763137 | 0.7391 | None | gnomAD-4.0.0 | 3.18266E-06 | |
32386 | 80 | G/A | 164 | rs750418991 | 0.3261 | None | gnomAD-2.1.1 | 3.62E-05 | |
32386 | 80 | G/A | 164 | rs750418991 | 0.3261 | None | gnomAD-3.1.2 | 1.31E-05 | |
32386 | 80 | G/A | 164 | rs750418991 | 0.3261 | None | gnomAD-4.0.0 | 2.16914E-05 | |
32386 | 80 | G/R | 164 | rs758534800 | 0.3261 | None | gnomAD-2.1.1 | 4.42E-05 | |
32386 | 80 | G/R | 164 | rs758534800 | 0.3261 | None | gnomAD-3.1.2 | 5.92E-05 | |
32386 | 80 | G/R | 164 | rs758534800 | 0.3261 | None | gnomAD-4.0.0 | 3.9044E-05 | |
32386 | 80 | G/V | 164 | None | 0.3261 | None | gnomAD-4.0.0 | 6.84273E-07 | |
32388 | 82 | T/N | 166 | None | 0.6751 | None | gnomAD-4.0.0 | 1.59164E-06 | |
32391 | 85 | T/I | 171 | rs1353755396 | 0.3273 | None | gnomAD-2.1.1 | 4.02E-06 | |
32391 | 85 | T/I | 171 | rs1353755396 | 0.3273 | None | gnomAD-3.1.2 | 6.58E-06 | |
32391 | 85 | T/I | 171 | rs1353755396 | 0.3273 | None | gnomAD-4.0.0 | 4.33914E-06 | |
32392 | 86 | I/S | 172 | None | 0.1483 | None | gnomAD-4.0.0 | 2.05352E-06 | |
32392 | 86 | I/T | 172 | None | 0.1483 | None | gnomAD-4.0.0 | 6.84507E-07 | |
32393 | 87 | K/E | 173 | rs374081110 | 0.4817 | None | gnomAD-2.1.1 | 4.02E-06 | |
32393 | 87 | K/E | 173 | rs374081110 | 0.4817 | None | gnomAD-3.1.2 | 6.57E-06 | |
32393 | 87 | K/E | 173 | rs374081110 | 0.4817 | None | gnomAD-4.0.0 | 2.47967E-06 | |
32393 | 87 | K/R | 173 | None | 0.4817 | None | gnomAD-4.0.0 | 1.59291E-06 | |
32394 | 88 | V/F | 174 | None | 0.1105 | None | gnomAD-4.0.0 | 6.8456E-07 | |
32394 | 88 | V/I | 174 | None | 0.1105 | None | gnomAD-4.0.0 | 3.4228E-06 | |
32395 | 89 | I/F | 175 | None | 0.1986 | None | gnomAD-4.0.0 | 6.855E-07 | |
32395 | 89 | I/T | 175 | None | 0.1986 | None | gnomAD-4.0.0 | 2.7418E-06 | |
32395 | 89 | I/V | 175 | None | 0.1986 | None | gnomAD-4.0.0 | 6.855E-07 |