10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
K | P | G | P | P | G | G | P | I | E | F | K | T | V | T | A | E | K | I | T | L | L | W | R | P | P | A | D | D | G | G | A | K | I | T | H | Y | I | V | E | K | R | E | T | S | R | V | V | W | S | M | V | S | E | H | L | E | E | C | I | I | T | T | T | K | I | I | K | G | N | E | Y | I | F | R | V | R | A | V | N | K | Y | G | I | G | E | P | L | E | S | D | S | V | V | A | K | N |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
29533 | 1 | K/N | 1 | None | 0.4814 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29534 | 2 | P/L | 2 | rs760009798 | 0.1190 | None | gnomAD-2.1.1 | 4.03E-06 | |
29534 | 2 | P/L | 2 | rs760009798 | 0.1190 | None | gnomAD-4.0.0 | 1.36875E-06 | |
29534 | 2 | P/S | 2 | None | 0.1190 | None | gnomAD-4.0.0 | 4.10614E-06 | |
29536 | 4 | P/L | 4 | rs928055260 | 0.4483 | None | gnomAD-4.0.0 | 1.59177E-06 | |
29537 | 5 | P/R | 5 | rs1482625198 | 0.1222 | None | gnomAD-2.1.1 | 4.02E-06 | |
29538 | 6 | G/A | 6 | rs1206917206 | 0.1929 | None | gnomAD-2.1.1 | 4.02E-06 | |
29538 | 6 | G/C | 6 | None | 0.1929 | None | gnomAD-4.0.0 | 1.59139E-06 | |
29538 | 6 | G/S | 6 | None | 0.1929 | None | gnomAD-4.0.0 | 3.18279E-06 | |
29540 | 8 | P/L | 8 | None | 0.6467 | None | gnomAD-4.0.0 | 4.78947E-06 | |
29540 | 8 | P/R | 8 | rs747863143 | 0.6467 | None | gnomAD-2.1.1 | 4.02E-06 | |
29540 | 8 | P/R | 8 | rs747863143 | 0.6467 | None | gnomAD-4.0.0 | 3.42105E-06 | |
29540 | 8 | P/T | 8 | rs1342421251 | 0.6467 | None | gnomAD-2.1.1 | 1.07E-05 | |
29540 | 8 | P/T | 8 | rs1342421251 | 0.6467 | None | gnomAD-3.1.2 | 6.58E-06 | |
29540 | 8 | P/T | 8 | rs1342421251 | 0.6467 | None | gnomAD-4.0.0 | 4.95782E-06 | |
29541 | 9 | I/T | 9 | rs768292510 | 0.1357 | None | gnomAD-2.1.1 | 2.14E-05 | |
29541 | 9 | I/T | 9 | rs768292510 | 0.1357 | None | gnomAD-3.1.2 | 5.26E-05 | |
29541 | 9 | I/T | 9 | rs768292510 | 0.1357 | None | gnomAD-4.0.0 | 3.34625E-05 | |
29541 | 9 | I/V | 9 | rs780639603 | 0.1357 | None | gnomAD-2.1.1 | 8.04E-06 | |
29541 | 9 | I/V | 9 | rs780639603 | 0.1357 | None | gnomAD-3.1.2 | 3.29E-05 | |
29541 | 9 | I/V | 9 | rs780639603 | 0.1357 | None | gnomAD-4.0.0 | 1.40892E-05 | |
29542 | 10 | E/K | 11 | None | 0.5121 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29543 | 11 | F/S | 12 | rs948542254 | 0.3133 | None | gnomAD-3.1.2 | 1.31E-05 | |
29543 | 11 | F/S | 12 | rs948542254 | 0.3133 | None | gnomAD-4.0.0 | 3.71806E-06 | |
29544 | 12 | K/R | 13 | None | 0.7095 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29545 | 13 | T/I | 14 | rs1302609593 | 0.3703 | None | gnomAD-2.1.1 | 4.02E-06 | |
29545 | 13 | T/I | 14 | rs1302609593 | 0.3703 | None | gnomAD-3.1.2 | 6.57E-06 | |
29545 | 13 | T/I | 14 | rs1302609593 | 0.3703 | None | gnomAD-4.0.0 | 2.56187E-06 | |
29546 | 14 | V/I | 15 | rs758393823 | 0.2364 | None | gnomAD-2.1.1 | 4.02E-06 | |
29546 | 14 | V/I | 15 | rs758393823 | 0.2364 | None | gnomAD-4.0.0 | 7.52593E-06 | |
29549 | 17 | E/G | 18 | rs779704459 | 0.7704 | None | gnomAD-2.1.1 | 1.07E-05 | |
29549 | 17 | E/G | 18 | rs779704459 | 0.7704 | None | gnomAD-3.1.2 | 1.97E-05 | |
29549 | 17 | E/G | 18 | rs779704459 | 0.7704 | None | gnomAD-4.0.0 | 6.19665E-06 | |
29549 | 17 | E/K | 18 | None | 0.7704 | None | gnomAD-4.0.0 | 3.42089E-06 | |
29550 | 18 | K/M | 19 | rs750362797 | 0.4805 | None | gnomAD-2.1.1 | 4.02E-06 | |
29550 | 18 | K/M | 19 | rs750362797 | 0.4805 | None | gnomAD-3.1.2 | 6.57E-06 | |
29550 | 18 | K/M | 19 | rs750362797 | 0.4805 | None | gnomAD-4.0.0 | 1.85893E-06 | |
29550 | 18 | K/N | 19 | rs778800874 | 0.4805 | None | gnomAD-2.1.1 | 4.02E-06 | |
29550 | 18 | K/N | 19 | rs778800874 | 0.4805 | None | gnomAD-4.0.0 | 1.36834E-06 | |
29551 | 19 | I/T | 20 | None | 0.0852 | None | gnomAD-4.0.0 | 2.73664E-06 | |
29552 | 20 | T/A | 21 | None | 0.1537 | None | gnomAD-4.0.0 | 1.591E-06 | |
29552 | 20 | T/I | 21 | rs756935787 | 0.1537 | None | gnomAD-3.1.2 | 6.57E-06 | |
29552 | 20 | T/I | 21 | rs756935787 | 0.1537 | None | gnomAD-4.0.0 | 1.23922E-06 | |
29552 | 20 | T/N | 21 | None | 0.1537 | None | gnomAD-4.0.0 | 6.8416E-07 | |
29552 | 20 | T/S | 21 | rs756935787 | 0.1537 | None | gnomAD-2.1.1 | 1.21E-05 | |
29552 | 20 | T/S | 21 | rs756935787 | 0.1537 | None | gnomAD-4.0.0 | 4.78912E-06 | |
29555 | 23 | W/S | 24 | None | 0.1255 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29556 | 24 | R/G | 25 | None | 0.4848 | None | gnomAD-4.0.0 | 6.8417E-07 | |
29556 | 24 | R/P | 25 | rs1207034709 | 0.4848 | None | gnomAD-4.0.0 | 6.84164E-07 | |
29556 | 24 | R/Q | 25 | None | 0.4848 | None | gnomAD-2.1.1 | 4.02E-06 | |
29556 | 24 | R/Q | 25 | None | 0.4848 | None | gnomAD-3.1.2 | 6.57E-06 | |
29556 | 24 | R/Q | 25 | None | 0.4848 | None | gnomAD-4.0.0 | 1.05342E-05 | |
29556 | 24 | R/W | 25 | rs201657835 | 0.4848 | None | gnomAD-2.1.1 | 2.5E-05 | |
29556 | 24 | R/W | 25 | rs201657835 | 0.4848 | None | gnomAD-3.1.2 | 3.94E-05 | |
29556 | 24 | R/W | 25 | rs201657835 | 0.4848 | None | gnomAD-4.0.0 | 1.36327E-05 | |
29557 | 25 | P/H | 26 | None | 0.4978 | None | gnomAD-4.0.0 | 1.591E-06 | |
29558 | 26 | P/L | 27 | rs1438123245 | 0.1884 | None | gnomAD-2.1.1 | 7.14E-06 | |
29558 | 26 | P/L | 27 | rs1438123245 | 0.1884 | None | gnomAD-3.1.2 | 1.31E-05 | |
29558 | 26 | P/L | 27 | rs1438123245 | 0.1884 | None | gnomAD-4.0.0 | 3.84273E-06 | |
29559 | 27 | A/P | 28 | rs748038054 | 0.9084 | None | gnomAD-2.1.1 | 7.14E-06 | |
29559 | 27 | A/P | 28 | rs748038054 | 0.9084 | None | gnomAD-3.1.2 | 6.57E-06 | |
29559 | 27 | A/P | 28 | rs748038054 | 0.9084 | None | gnomAD-4.0.0 | 1.67303E-05 | |
29559 | 27 | A/T | 28 | rs748038054 | 0.9084 | None | gnomAD-4.0.0 | 3.42081E-06 | |
29560 | 28 | D/A | 29 | None | 0.6215 | None | gnomAD-4.0.0 | 1.36832E-06 | |
29561 | 29 | D/H | 30 | rs1700645237 | 0.2510 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29562 | 30 | G/D | 31 | rs72648235 | 0.3202 | None | gnomAD-2.1.1 | 2.0351E-04 | |
29562 | 30 | G/D | 31 | rs72648235 | 0.3202 | None | gnomAD-3.1.2 | 1.3142E-04 | |
29562 | 30 | G/D | 31 | rs72648235 | 0.3202 | None | gnomAD-4.0.0 | 1.64826E-04 | |
29562 | 30 | G/S | 31 | rs760886476 | 0.3202 | None | gnomAD-2.1.1 | 8.04E-06 | |
29562 | 30 | G/S | 31 | rs760886476 | 0.3202 | None | gnomAD-4.0.0 | 1.59104E-05 | |
29563 | 31 | G/D | 32 | rs1335432771 | 0.5892 | None | gnomAD-3.1.2 | 6.57E-06 | |
29563 | 31 | G/D | 32 | rs1335432771 | 0.5892 | None | gnomAD-4.0.0 | 1.859E-06 | |
29564 | 32 | A/G | 33 | None | 0.1922 | None | gnomAD-4.0.0 | 1.59109E-06 | |
29564 | 32 | A/P | 33 | None | 0.1922 | None | gnomAD-4.0.0 | 1.59108E-06 | |
29565 | 33 | K/T | 34 | rs1263180064 | 0.7830 | None | gnomAD-2.1.1 | 4.02E-06 | |
29565 | 33 | K/T | 34 | rs1263180064 | 0.7830 | None | gnomAD-4.0.0 | 4.77307E-06 | |
29566 | 34 | I/L | 35 | rs1700639038 | 0.1550 | None | gnomAD-3.1.2 | 6.57E-06 | |
29566 | 34 | I/L | 35 | rs1700639038 | 0.1550 | None | gnomAD-4.0.0 | 3.09829E-06 | |
29566 | 34 | I/V | 35 | None | 0.1550 | None | gnomAD-4.0.0 | 6.84167E-07 | |
29567 | 35 | T/N | 36 | None | 0.3280 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29568 | 36 | H/D | 37 | None | 0.1358 | None | gnomAD-4.0.0 | 1.59104E-06 | |
29568 | 36 | H/P | 37 | None | 0.1358 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29568 | 36 | H/Q | 37 | rs370093328 | 0.1358 | None | gnomAD-2.1.1 | 4.02E-06 | |
29569 | 37 | Y/C | 38 | None | 0.1084 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29569 | 37 | Y/F | 38 | None | 0.1084 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29569 | 37 | Y/N | 38 | rs199821241 | 0.1084 | None | gnomAD-2.1.1 | 2.01E-05 | |
29569 | 37 | Y/N | 38 | rs199821241 | 0.1084 | None | gnomAD-3.1.2 | 6.57E-06 | |
29569 | 37 | Y/N | 38 | rs199821241 | 0.1084 | None | gnomAD-4.0.0 | 1.54913E-05 | |
29570 | 38 | I/L | 39 | rs139506970 | 0.1924 | None | gnomAD-3.1.2 | 1.31E-05 | |
29570 | 38 | I/L | 39 | rs139506970 | 0.1924 | None | gnomAD-4.0.0 | 1.85903E-06 | |
29570 | 38 | I/T | 39 | rs965795447 | 0.1924 | None | gnomAD-2.1.1 | 6.37E-05 | |
29570 | 38 | I/T | 39 | rs965795447 | 0.1924 | None | gnomAD-3.1.2 | 1.97E-05 | |
29570 | 38 | I/T | 39 | rs965795447 | 0.1924 | None | gnomAD-4.0.0 | 4.06004E-06 | |
29570 | 38 | I/V | 39 | rs139506970 | 0.1924 | None | gnomAD-2.1.1 | 8.24753E-04 | |
29570 | 38 | I/V | 39 | rs139506970 | 0.1924 | None | gnomAD-3.1.2 | 2.43258E-03 | |
29570 | 38 | I/V | 39 | rs139506970 | 0.1924 | None | 1000 genomes | 3.39457E-03 | |
29570 | 38 | I/V | 39 | rs139506970 | 0.1924 | None | gnomAD-4.0.0 | 5.00663E-04 | |
29571 | 39 | V/L | 40 | None | 0.0950 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29571 | 39 | V/M | 40 | rs1244032310 | 0.0950 | None | gnomAD-2.1.1 | 3.18E-05 | |
29571 | 39 | V/M | 40 | rs1244032310 | 0.0950 | None | gnomAD-3.1.2 | 6.57E-06 | |
29571 | 39 | V/M | 40 | rs1244032310 | 0.0950 | None | gnomAD-4.0.0 | 6.57289E-06 | |
29572 | 40 | E/D | 41 | rs982929672 | 0.1215 | None | gnomAD-3.1.2 | 6.57E-06 | |
29572 | 40 | E/D | 41 | rs982929672 | 0.1215 | None | gnomAD-4.0.0 | 2.56181E-06 | |
29573 | 41 | K/N | 42 | rs951559577 | 0.1599 | None | gnomAD-2.1.1 | 4.02E-06 | |
29573 | 41 | K/N | 42 | rs951559577 | 0.1599 | None | gnomAD-3.1.2 | 6.57E-06 | |
29573 | 41 | K/N | 42 | rs951559577 | 0.1599 | None | gnomAD-4.0.0 | 1.59101E-06 | |
29573 | 41 | K/T | 42 | rs1332479278 | 0.1599 | None | gnomAD-2.1.1 | 4.02E-06 | |
29573 | 41 | K/T | 42 | rs1332479278 | 0.1599 | None | gnomAD-3.1.2 | 6.57E-06 | |
29573 | 41 | K/T | 42 | rs1332479278 | 0.1599 | None | gnomAD-4.0.0 | 1.85903E-06 | |
29574 | 42 | R/C | 43 | rs200513274 | 0.2145 | None | gnomAD-2.1.1 | 2.60645E-04 | |
29574 | 42 | R/C | 43 | rs200513274 | 0.2145 | None | gnomAD-3.1.2 | 2.89283E-04 | |
29574 | 42 | R/C | 43 | rs200513274 | 0.2145 | None | 1000 genomes | 1.99681E-04 | |
29574 | 42 | R/C | 43 | rs200513274 | 0.2145 | None | gnomAD-4.0.0 | 4.75884E-04 | |
29574 | 42 | R/G | 43 | rs200513274 | 0.2145 | None | gnomAD-2.1.1 | 4.02E-06 | |
29574 | 42 | R/G | 43 | rs200513274 | 0.2145 | None | gnomAD-4.0.0 | 2.05251E-06 | |
29574 | 42 | R/H | 43 | rs111727915 | 0.2145 | None | gnomAD-2.1.1 | 5.3912E-04 | |
29574 | 42 | R/H | 43 | rs111727915 | 0.2145 | None | gnomAD-3.1.2 | 8.74057E-04 | |
29574 | 42 | R/H | 43 | rs111727915 | 0.2145 | None | 1000 genomes | 9.98403E-04 | |
29574 | 42 | R/H | 43 | rs111727915 | 0.2145 | None | gnomAD-4.0.0 | 3.14762E-04 | |
29576 | 44 | T/R | 50 | rs1700623048 | 0.3481 | None | gnomAD-3.1.2 | 6.57E-06 | |
29576 | 44 | T/R | 50 | rs1700623048 | 0.3481 | None | gnomAD-4.0.0 | 6.5735E-06 | |
29577 | 45 | S/C | 54 | rs1559230996 | 0.6098 | None | gnomAD-4.0.0 | 4.77307E-06 | |
29577 | 45 | S/N | 54 | None | 0.6098 | None | gnomAD-4.0.0 | 1.59103E-06 | |
29577 | 45 | S/R | 54 | None | 0.6098 | None | gnomAD-4.0.0 | 6.84167E-07 | |
29578 | 46 | R/C | 60 | rs539906386 | 0.4808 | None | gnomAD-2.1.1 | 4.02E-06 | |
29578 | 46 | R/C | 60 | rs539906386 | 0.4808 | None | gnomAD-3.1.2 | 6.58E-06 | |
29578 | 46 | R/C | 60 | rs539906386 | 0.4808 | None | 1000 genomes | 1.99681E-04 | |
29578 | 46 | R/C | 60 | rs539906386 | 0.4808 | None | gnomAD-4.0.0 | 3.09824E-06 | |
29578 | 46 | R/H | 60 | rs374147064 | 0.4808 | None | gnomAD-2.1.1 | 1.3924E-04 | |
29578 | 46 | R/H | 60 | rs374147064 | 0.4808 | None | gnomAD-3.1.2 | 3.08946E-04 | |
29578 | 46 | R/H | 60 | rs374147064 | 0.4808 | None | 1000 genomes | 1.39776E-03 | |
29578 | 46 | R/H | 60 | rs374147064 | 0.4808 | None | gnomAD-4.0.0 | 6.75395E-05 | |
29579 | 47 | V/A | 63 | rs777595903 | 0.9442 | None | gnomAD-2.1.1 | 4.02E-06 | |
29579 | 47 | V/A | 63 | rs777595903 | 0.9442 | None | gnomAD-3.1.2 | 6.58E-06 | |
29579 | 47 | V/A | 63 | rs777595903 | 0.9442 | None | gnomAD-4.0.0 | 2.56215E-06 | |
29579 | 47 | V/D | 63 | None | 0.9442 | None | gnomAD-4.0.0 | 1.59102E-06 | |
29579 | 47 | V/F | 63 | rs879204059 | 0.9442 | None | gnomAD-3.1.2 | 6.57E-06 | |
29579 | 47 | V/F | 63 | rs879204059 | 0.9442 | None | gnomAD-4.0.0 | 6.57315E-06 | |
29579 | 47 | V/I | 63 | rs879204059 | 0.9442 | None | gnomAD-3.1.2 | 6.57E-06 | |
29579 | 47 | V/I | 63 | rs879204059 | 0.9442 | None | gnomAD-4.0.0 | 9.91472E-06 | |
29580 | 48 | V/L | 64 | rs371096025 | 0.7052 | None | gnomAD-2.1.1 | 4.02E-06 | |
29580 | 48 | V/L | 64 | rs371096025 | 0.7052 | None | gnomAD-4.0.0 | 1.59102E-06 | |
29580 | 48 | V/M | 64 | None | 0.7052 | None | gnomAD-2.1.1 | 4.02E-06 | |
29581 | 49 | W/C | 65 | None | 0.2406 | None | gnomAD-4.0.0 | 3.18202E-06 | |
29582 | 50 | S/C | 66 | None | 0.3922 | None | gnomAD-4.0.0 | 1.59102E-06 | |
29583 | 51 | M/I | 67 | rs1224789093 | 0.2906 | None | gnomAD-2.1.1 | 4.02E-06 | |
29583 | 51 | M/I | 67 | rs1224789093 | 0.2906 | None | gnomAD-4.0.0 | 1.59102E-06 | |
29583 | 51 | M/T | 67 | None | 0.2906 | None | gnomAD-4.0.0 | 1.591E-06 | |
29583 | 51 | M/V | 67 | rs377535587 | 0.2906 | None | gnomAD-2.1.1 | 2.01E-05 | |
29583 | 51 | M/V | 67 | rs377535587 | 0.2906 | None | gnomAD-3.1.2 | 3.94E-05 | |
29583 | 51 | M/V | 67 | rs377535587 | 0.2906 | None | 1000 genomes | 5.99042E-04 | |
29583 | 51 | M/V | 67 | rs377535587 | 0.2906 | None | gnomAD-4.0.0 | 6.81562E-06 | |
29584 | 52 | V/A | 68 | rs1356142891 | 0.2543 | None | gnomAD-2.1.1 | 4.02E-06 | |
29584 | 52 | V/A | 68 | rs1356142891 | 0.2543 | None | gnomAD-4.0.0 | 3.18202E-06 | |
29585 | 53 | S/F | 69 | rs752117968 | 0.1822 | None | gnomAD-2.1.1 | 8.04E-06 | |
29585 | 53 | S/F | 69 | rs752117968 | 0.1822 | None | gnomAD-4.0.0 | 1.59105E-06 | |
29585 | 53 | S/P | 69 | None | 0.1822 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29585 | 53 | S/T | 69 | None | 0.1822 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29585 | 53 | S/Y | 69 | None | 0.1822 | None | gnomAD-4.0.0 | 1.59105E-06 | |
29586 | 54 | E/K | 70 | None | 0.6659 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29587 | 55 | H/L | 75 | None | 0.5308 | None | gnomAD-4.0.0 | 6.84167E-07 | |
29587 | 55 | H/R | 75 | rs373905959 | 0.5308 | None | gnomAD-2.1.1 | 1.21E-05 | |
29587 | 55 | H/R | 75 | rs373905959 | 0.5308 | None | gnomAD-3.1.2 | 6.57E-06 | |
29587 | 55 | H/R | 75 | rs373905959 | 0.5308 | None | gnomAD-4.0.0 | 3.09828E-06 | |
29587 | 55 | H/Y | 75 | None | 0.5308 | None | gnomAD-4.0.0 | 1.59102E-06 | |
29588 | 56 | L/S | 77 | rs551991700 | 0.1402 | None | gnomAD-4.0.0 | 3.09807E-06 | |
29588 | 56 | L/V | 77 | rs534126040 | 0.1402 | None | gnomAD-2.1.1 | 1.20593E-04 | |
29588 | 56 | L/V | 77 | rs534126040 | 0.1402 | None | gnomAD-3.1.2 | 2.63E-05 | |
29588 | 56 | L/V | 77 | rs534126040 | 0.1402 | None | 1000 genomes | 1.99681E-04 | |
29588 | 56 | L/V | 77 | rs534126040 | 0.1402 | None | gnomAD-4.0.0 | 5.94849E-05 | |
29589 | 57 | E/K | 83 | rs773486662 | 0.7930 | None | gnomAD-2.1.1 | 4.02E-06 | |
29589 | 57 | E/K | 83 | rs773486662 | 0.7930 | None | gnomAD-4.0.0 | 2.0525E-06 | |
29589 | 57 | E/Q | 83 | rs773486662 | 0.7930 | None | gnomAD-2.1.1 | 4.02E-06 | |
29589 | 57 | E/Q | 83 | rs773486662 | 0.7930 | None | gnomAD-4.0.0 | 6.84166E-07 | |
29590 | 58 | E/D | 88 | rs879152203 | 0.6410 | None | gnomAD-2.1.1 | 4.02E-06 | |
29590 | 58 | E/D | 88 | rs879152203 | 0.6410 | None | gnomAD-3.1.2 | 6.57E-06 | |
29590 | 58 | E/D | 88 | rs879152203 | 0.6410 | None | gnomAD-4.0.0 | 1.05347E-05 | |
29590 | 58 | E/Q | 88 | rs72648236 | 0.6410 | None | gnomAD-2.1.1 | 4.02E-06 | |
29590 | 58 | E/Q | 88 | rs72648236 | 0.6410 |
DCM |
Literature | None | |
29590 | 58 | E/Q | 88 | rs72648236 | 0.6410 | None | gnomAD-4.0.0 | 1.59104E-06 | |
29591 | 59 | C/Y | 89 | None | 0.1249 | None | gnomAD-4.0.0 | 1.20032E-06 | |
29592 | 60 | I/F | 90 | None | 0.3409 | None | gnomAD-4.0.0 | 1.36835E-06 | |
29592 | 60 | I/L | 90 | None | 0.3409 | None | gnomAD-4.0.0 | 6.84173E-07 | |
29592 | 60 | I/V | 90 | rs1700602244 | 0.3409 | None | gnomAD-4.0.0 | 3.42087E-06 | |
29593 | 61 | I/L | 91 | rs1412856815 | 0.1728 | None | gnomAD-2.1.1 | 4.02E-06 | |
29593 | 61 | I/L | 91 | rs1412856815 | 0.1728 | None | gnomAD-4.0.0 | 1.36834E-06 | |
29593 | 61 | I/T | 91 | None | 0.1728 | None | gnomAD-4.0.0 | 3.18212E-06 | |
29595 | 63 | T/N | 93 | rs1575546136 | 0.2003 | None | gnomAD-4.0.0 | 1.59107E-06 | |
29596 | 64 | T/A | 94 | None | 0.5420 | None | gnomAD-4.0.0 | 2.40064E-06 | |
29596 | 64 | T/I | 94 | rs786205371 | 0.5420 | None | gnomAD-2.1.1 | 8.04E-06 | |
29596 | 64 | T/I | 94 | rs786205371 | 0.5420 | None | gnomAD-4.0.0 | 4.78925E-06 | |
29596 | 64 | T/S | 94 | rs786205371 | 0.5420 | None | gnomAD-2.1.1 | 1.07E-05 | |
29596 | 64 | T/S | 94 | rs786205371 | 0.5420 | None | gnomAD-3.1.2 | 2.63E-05 | |
29596 | 64 | T/S | 94 | rs786205371 | 0.5420 | None | gnomAD-4.0.0 | 1.54928E-05 | |
29598 | 66 | I/S | 97 | None | 0.1382 | None | gnomAD-4.0.0 | 1.59112E-06 | |
29599 | 67 | I/M | 98 | rs771722266 | 0.4341 | None | gnomAD-2.1.1 | 7.14E-06 | |
29599 | 67 | I/M | 98 | rs771722266 | 0.4341 | None | gnomAD-4.0.0 | 9.5787E-06 | |
29599 | 67 | I/T | 98 | None | 0.4341 | None | gnomAD-4.0.0 | 2.05257E-06 | |
29600 | 68 | K/I | 99 | rs548209283 | 0.7654 | None | gnomAD-2.1.1 | 2.41E-05 | |
29600 | 68 | K/I | 99 | rs548209283 | 0.7654 | None | gnomAD-3.1.2 | 1.31E-05 | |
29600 | 68 | K/I | 99 | rs548209283 | 0.7654 | None | 1000 genomes | 1.99681E-04 | |
29600 | 68 | K/I | 99 | rs548209283 | 0.7654 | None | gnomAD-4.0.0 | 1.15267E-05 | |
29601 | 69 | G/E | 100 | rs773909810 | 0.3580 | None | gnomAD-2.1.1 | 4.02E-06 | |
29601 | 69 | G/E | 100 | rs773909810 | 0.3580 | None | gnomAD-4.0.0 | 1.59124E-06 | |
29601 | 69 | G/R | 100 | rs1700593834 | 0.3580 | None | gnomAD-3.1.2 | 6.57E-06 | |
29601 | 69 | G/R | 100 | rs1700593834 | 0.3580 | None | gnomAD-4.0.0 | 6.57471E-06 | |
29602 | 70 | N/K | 102 | rs1700590955 | 0.2866 | None | gnomAD-4.0.0 | 1.20033E-06 | |
29602 | 70 | N/S | 102 | rs749229315 | 0.2866 | None | gnomAD-2.1.1 | 4.02E-06 | |
29602 | 70 | N/S | 102 | rs749229315 | 0.2866 | None | gnomAD-4.0.0 | 1.59123E-06 | |
29603 | 71 | E/K | 103 | rs777572153 | 0.2716 | None | gnomAD-2.1.1 | 1.21E-05 | |
29603 | 71 | E/K | 103 | rs777572153 | 0.2716 | None | gnomAD-4.0.0 | 1.27303E-05 | |
29605 | 73 | I/L | 105 | rs755867567 | 0.2040 | None | gnomAD-2.1.1 | 4.03E-06 | |
29605 | 73 | I/N | 105 | rs906583017 | 0.2040 | None | gnomAD-2.1.1 | 3.19E-05 | |
29605 | 73 | I/N | 105 | rs906583017 | 0.2040 | None | gnomAD-3.1.2 | 1.32E-05 | |
29605 | 73 | I/N | 105 | rs906583017 | 0.2040 | None | gnomAD-4.0.0 | 1.31506E-05 | |
29607 | 75 | R/G | 107 | rs781330566 | 0.1058 | None | gnomAD-2.1.1 | 8.07E-06 | |
29607 | 75 | R/G | 107 | rs781330566 | 0.1058 | None | gnomAD-4.0.0 | 1.36873E-06 | |
29607 | 75 | R/Q | 107 | rs755212831 | 0.1058 | None | gnomAD-2.1.1 | 4.84E-05 | |
29607 | 75 | R/Q | 107 | rs755212831 | 0.1058 | None | gnomAD-3.1.2 | 1.97E-05 | |
29607 | 75 | R/Q | 107 | rs755212831 | 0.1058 | None | gnomAD-4.0.0 | 3.28474E-05 | |
29607 | 75 | R/W | 107 | rs781330566 | 0.1058 | None | gnomAD-2.1.1 | 1.43E-05 | |
29607 | 75 | R/W | 107 | rs781330566 | 0.1058 | None | gnomAD-3.1.2 | 3.29E-05 | |
29607 | 75 | R/W | 107 | rs781330566 | 0.1058 | None | gnomAD-4.0.0 | 1.17765E-05 | |
29609 | 77 | R/G | 109 | rs766450773 | 0.2223 | None | gnomAD-4.0.0 | 6.84818E-06 | |
29609 | 77 | R/Q | 109 | rs758876816 | 0.2223 | None | gnomAD-2.1.1 | 2.42E-05 | |
29609 | 77 | R/Q | 109 | rs758876816 | 0.2223 | None | gnomAD-4.0.0 | 1.09493E-05 | |
29610 | 78 | A/D | 110 | rs1060500410 | 0.0835 | None | gnomAD-3.1.2 | 6.57E-06 | |
29610 | 78 | A/D | 110 | rs1060500410 | 0.0835 | None | gnomAD-4.0.0 | 5.12605E-06 | |
29610 | 78 | A/T | 110 | rs1289495878 | 0.0835 | None | gnomAD-2.1.1 | 4.04E-06 | |
29610 | 78 | A/T | 110 | rs1289495878 | 0.0835 | None | gnomAD-4.0.0 | 3.18407E-06 | |
29611 | 79 | V/L | 111 | rs79299277 | 0.0959 | None | gnomAD-2.1.1 | 4.05E-06 | |
29611 | 79 | V/L | 111 | rs79299277 | 0.0959 | None | gnomAD-3.1.2 | 2.63E-05 | |
29611 | 79 | V/L | 111 | rs79299277 | 0.0959 | None | 1000 genomes | 3.99361E-04 | |
29611 | 79 | V/L | 111 | rs79299277 | 0.0959 | None | gnomAD-4.0.0 | 6.19849E-06 | |
29611 | 79 | V/M | 111 | rs79299277 | 0.0959 | None | gnomAD-2.1.1 | 1.62E-05 | |
29611 | 79 | V/M | 111 | rs79299277 | 0.0959 | None | gnomAD-3.1.2 | 3.29E-05 | |
29611 | 79 | V/M | 111 | rs79299277 | 0.0959 | None | gnomAD-4.0.0 | 2.78953E-05 | |
29612 | 80 | N/K | 112 | rs767347782 | 0.1116 | None | gnomAD-4.0.0 | 3.05098E-05 | |
29614 | 82 | Y/C | 114 | rs770430100 | 0.6677 | None | gnomAD-2.1.1 | 3.18E-05 | |
29614 | 82 | Y/C | 114 | rs770430100 | 0.6677 | None | gnomAD-4.0.0 | 1.59249E-06 | |
29614 | 82 | Y/H | 114 | None | 0.6677 | None | gnomAD-4.0.0 | 1.5924E-06 | |
29615 | 83 | G/R | 115 | rs878880360 | 0.2272 | None | gnomAD-2.1.1 | 7.2E-06 | |
29615 | 83 | G/R | 115 | rs878880360 | 0.2272 | None | gnomAD-3.1.2 | 6.57E-06 | |
29615 | 83 | G/R | 115 | rs878880360 | 0.2272 | None | gnomAD-4.0.0 | 2.56401E-06 | |
29616 | 84 | I/F | 117 | rs768798726 | 0.5163 | None | gnomAD-4.0.0 | 1.59433E-06 | |
29616 | 84 | I/N | 117 | None | 0.5163 | None | gnomAD-4.0.0 | 1.59284E-06 | |
29618 | 86 | E/K | 119 | rs879222602 | 0.4429 | None | gnomAD-2.1.1 | 4.05E-06 | |
29618 | 86 | E/K | 119 | rs879222602 | 0.4429 | None | gnomAD-4.0.0 | 1.98497E-05 | |
29619 | 87 | P/L | 120 | rs1042897248 | 0.3119 | None | gnomAD-4.0.0 | 6.84609E-07 | |
29621 | 89 | E/A | 122 | None | 0.3268 | None | gnomAD-4.0.0 | 6.84343E-07 | |
29621 | 89 | E/D | 122 | rs750981091 | 0.3268 | None | gnomAD-2.1.1 | 8.06E-06 | |
29621 | 89 | E/D | 122 | rs750981091 | 0.3268 | None | gnomAD-3.1.2 | 1.97E-05 | |
29621 | 89 | E/D | 122 | rs750981091 | 0.3268 | None | gnomAD-4.0.0 | 1.9213E-05 | |
29621 | 89 | E/G | 122 | rs1559228678 | 0.3268 | None | gnomAD-4.0.0 | 6.84343E-07 | |
29621 | 89 | E/V | 122 | None | 0.3268 | None | gnomAD-4.0.0 | 6.84343E-06 | |
29622 | 90 | S/Y | 123 | rs1274325104 | 0.1553 | None | gnomAD-2.1.1 | 8.07E-06 | |
29622 | 90 | S/Y | 123 | rs1274325104 | 0.1553 | None | gnomAD-4.0.0 | 3.18379E-06 | |
29623 | 91 | D/E | 125 | rs753493628 | 0.9448 | None | gnomAD-2.1.1 | 4.03E-06 | |
29623 | 91 | D/E | 125 | rs753493628 | 0.9448 | None | gnomAD-4.0.0 | 4.77591E-06 | |
29623 | 91 | D/G | 125 | None | 0.9448 | None | gnomAD-4.0.0 | 1.59197E-06 | |
29625 | 93 | V/A | 127 | rs975051057 | 0.1382 | None | gnomAD-2.1.1 | 8.07E-06 | |
29625 | 93 | V/A | 127 | rs975051057 | 0.1382 | None | gnomAD-3.1.2 | 1.97E-05 | |
29625 | 93 | V/A | 127 | rs975051057 | 0.1382 | None | gnomAD-4.0.0 | 6.40801E-06 | |
29625 | 93 | V/I | 127 | rs764499992 | 0.1382 | None | gnomAD-2.1.1 | 1.08E-05 | |
29625 | 93 | V/I | 127 | rs764499992 | 0.1382 | None | gnomAD-3.1.2 | 1.31E-05 | |
29625 | 93 | V/I | 127 | rs764499992 | 0.1382 | None | gnomAD-4.0.0 | 3.09925E-06 | |
29626 | 94 | V/A | 129 | rs766178585 | 0.3163 | None | gnomAD-2.1.1 | 4.04E-06 | |
29626 | 94 | V/A | 129 | rs766178585 | 0.3163 | None | gnomAD-4.0.0 | 2.73772E-05 | |
29627 | 95 | A/V | 130 | rs1406651794 | 0.0798 | None | gnomAD-2.1.1 | 4.04E-06 | |
29628 | 96 | K/R | 131 | rs1366016395 | 0.5253 | None | gnomAD-2.1.1 | 8.09E-06 | |
29628 | 96 | K/R | 131 | rs1366016395 | 0.5253 | None | gnomAD-3.1.2 | 6.57E-06 | |
29628 | 96 | K/R | 131 | rs1366016395 | 0.5253 | None | gnomAD-4.0.0 | 3.71933E-06 | |
29629 | 97 | N/K | 132 | rs759136146 | 0.6829 | None | gnomAD-4.0.0 | 4.79221E-06 |