10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | P | G | P | P | T | N | F | R | V | V | D | T | T | K | H | S | I | T | L | G | W | G | K | P | V | Y | D | G | G | A | P | I | I | G | Y | V | V | E | M | R | P | K | I | A | D | A | S | P | D | E | G | W | K | R | C | N | A | A | A | Q | L | V | R | K | E | F | T | V | T | S | L | D | E | N | Q | E | Y | E | F | R | V | C | A | Q | N | Q | V | G | I | G | R | P | A | E | L | K | E | A | I | K | P | K | E | I |
P | P | G | P | P | T | N | F | R | V | V | D | T | T | K | H | S | I | T | L | G | W | G | K | P | V | Y | D | G | G | A | P | I | I | G | Y | V | V | E | M | R | P | K | I | A | D | A | S | P | D | E | G | W | K | R | C | N | A | A | A | Q | L | V | R | K | E | F | T | V | T | S | L | D | E | N | Q | E | Y | E | F | R | V | C | A | Q | N | Q | V | G | I | G | R | P | A | E | L | K | E | A | I | K | P | K | E | - |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
21064 | 1 | P/A | 1 | None | 0.5657 | None | gnomAD-4.0.0 | 1.73766E-06 | |
21064 | 1 | P/L | 1 | None | 0.5657 | None | gnomAD-4.0.0 | 7.09846E-07 | |
21065 | 2 | P/A | 2 | None | 0.1284 | None | gnomAD-4.0.0 | 1.20034E-06 | |
21065 | 2 | P/L | 2 | None | 0.1284 | None | gnomAD-4.0.0 | 7.07237E-07 | |
21065 | 2 | P/R | 2 | rs2049459670 | 0.1284 | None | gnomAD-3.1.2 | 6.58E-06 | |
21065 | 2 | P/R | 2 | rs2049459670 | 0.1284 | None | gnomAD-4.0.0 | 5.1085E-06 | |
21066 | 3 | G/C | 3 | None | 0.2289 | None | gnomAD-4.0.0 | 7.06061E-07 | |
21066 | 3 | G/D | 3 | None | 0.2289 | None | gnomAD-4.0.0 | 1.71782E-06 | |
21066 | 3 | G/S | 3 | None | 0.2289 | None | gnomAD-4.0.0 | 7.06061E-07 | |
21067 | 4 | P/A | 4 | None | 0.4225 | None | gnomAD-4.0.0 | 1.40824E-06 | |
21067 | 4 | P/L | 4 | rs1479721183 | 0.4225 | None | gnomAD-2.1.1 | 4.49E-06 | |
21067 | 4 | P/L | 4 | rs1479721183 | 0.4225 | None | gnomAD-4.0.0 | 7.04641E-07 | |
21067 | 4 | P/R | 4 | None | 0.4225 | None | gnomAD-4.0.0 | 7.0464E-07 | |
21067 | 4 | P/T | 4 | None | 0.4225 | None | gnomAD-4.0.0 | 7.04121E-07 | |
21068 | 5 | P/R | 5 | None | 0.1191 | None | gnomAD-4.0.0 | 3.41293E-06 | |
21069 | 6 | T/A | 6 | None | 0.2380 | None | gnomAD-4.0.0 | 7.00326E-07 | |
21071 | 8 | F/L | 9 | None | 0.1487 | None | gnomAD-4.0.0 | 1.67094E-06 | |
21071 | 8 | F/Y | 9 | rs2154182814 | 0.1487 | None | gnomAD-4.0.0 | 1.66884E-06 | |
21073 | 10 | V/M | 12 | rs777982485 | 0.2655 | None | gnomAD-2.1.1 | 8.48E-06 | |
21073 | 10 | V/M | 12 | rs777982485 | 0.2655 | None | gnomAD-4.0.0 | 2.09176E-06 | |
21076 | 13 | T/I | 15 | rs972090108 | 0.1562 | None | gnomAD-2.1.1 | 7.33E-06 | |
21076 | 13 | T/I | 15 | rs972090108 | 0.1562 | None | gnomAD-3.1.2 | 6.58E-06 | |
21076 | 13 | T/I | 15 | rs972090108 | 0.1562 | None | gnomAD-4.0.0 | 2.50761E-06 | |
21076 | 13 | T/R | 15 | rs972090108 | 0.1562 | None | gnomAD-2.1.1 | 4.14E-06 | |
21076 | 13 | T/R | 15 | rs972090108 | 0.1562 | None | gnomAD-3.1.2 | 6.58E-06 | |
21076 | 13 | T/R | 15 | rs972090108 | 0.1562 | None | gnomAD-4.0.0 | 1.25381E-06 | |
21077 | 14 | T/I | 16 | rs2049450214 | 0.2470 | None | gnomAD-3.1.2 | 6.58E-06 | |
21077 | 14 | T/I | 16 | rs2049450214 | 0.2470 | None | gnomAD-4.0.0 | 6.25166E-06 | |
21077 | 14 | T/N | 16 | None | 0.2470 | None | gnomAD-4.0.0 | 6.90806E-07 | |
21078 | 15 | K/E | 17 | rs1559557769 | 0.4153 | None | gnomAD-2.1.1 | 3.19E-05 | |
21078 | 15 | K/E | 17 | rs1559557769 | 0.4153 | None | gnomAD-3.1.2 | 6.58E-06 | |
21078 | 15 | K/E | 17 | rs1559557769 | 0.4153 | None | gnomAD-4.0.0 | 4.06014E-06 | |
21078 | 15 | K/R | 17 | rs879227779 | 0.4153 | None | gnomAD-4.0.0 | 6.90122E-07 | |
21078 | 15 | K/T | 17 | rs879227779 | 0.4153 | None | gnomAD-2.1.1 | 6.9E-05 | |
21078 | 15 | K/T | 17 | rs879227779 | 0.4153 | None | gnomAD-3.1.2 | 1.11773E-04 | |
21078 | 15 | K/T | 17 | rs879227779 | 0.4153 | None | gnomAD-4.0.0 | 2.37335E-05 | |
21079 | 16 | H/R | 18 | rs2049447997 | 0.4223 | None | gnomAD-4.0.0 | 8.40239E-06 | |
21080 | 17 | S/A | 19 | rs769809225 | 0.1525 | None | gnomAD-2.1.1 | 4.08E-06 | |
21080 | 17 | S/A | 19 | rs769809225 | 0.1525 | None | gnomAD-4.0.0 | 1.61541E-06 | |
21081 | 18 | I/T | 20 | None | 0.0743 | None | gnomAD-4.0.0 | 6.88023E-07 | |
21082 | 19 | T/I | 21 | rs2049445898 | 0.1337 | None | gnomAD-4.0.0 | 2.75171E-06 | |
21082 | 19 | T/N | 21 | rs2049445898 | 0.1337 | None | gnomAD-3.1.2 | 6.58E-06 | |
21082 | 19 | T/N | 21 | rs2049445898 | 0.1337 | None | gnomAD-4.0.0 | 3.11402E-06 | |
21083 | 20 | L/P | 22 | rs2049444900 | 0.0865 | None | gnomAD-3.1.2 | 6.58E-06 | |
21083 | 20 | L/P | 22 | rs2049444900 | 0.0865 | None | gnomAD-4.0.0 | 6.57739E-06 | |
21083 | 20 | L/R | 22 | None | 0.0865 | None | gnomAD-4.0.0 | 3.20812E-06 | |
21084 | 21 | G/E | 23 | rs1342843033 | 0.0882 | None | gnomAD-2.1.1 | 4.05E-06 | |
21084 | 21 | G/E | 23 | rs1342843033 | 0.0882 | None | gnomAD-4.0.0 | 1.60416E-06 | |
21085 | 22 | W/G | 24 | None | 0.1105 | None | gnomAD-4.0.0 | 1.20039E-06 | |
21086 | 23 | G/R | 25 | rs755518802 | 0.1625 | None | gnomAD-2.1.1 | 4.04E-06 | |
21086 | 23 | G/R | 25 | rs755518802 | 0.1625 | None | gnomAD-4.0.0 | 3.20002E-06 | |
21087 | 24 | K/R | 26 | rs1395427495 | 0.7164 | None | gnomAD-3.1.2 | 6.58E-06 | |
21087 | 24 | K/R | 26 | rs1395427495 | 0.7164 | None | gnomAD-4.0.0 | 6.57523E-06 | |
21088 | 25 | P/Q | 27 | None | 0.1222 | None | gnomAD-4.0.0 | 1.59881E-06 | |
21090 | 27 | Y/C | 29 | rs377480514 | 0.6190 | None | gnomAD-2.1.1 | 8.07E-06 | |
21090 | 27 | Y/C | 29 | rs377480514 | 0.6190 | None | gnomAD-3.1.2 | 6.58E-06 | |
21090 | 27 | Y/C | 29 | rs377480514 | 0.6190 | None | gnomAD-4.0.0 | 1.30314E-05 | |
21090 | 27 | Y/F | 29 | rs377480514 | 0.6190 | None | gnomAD-2.1.1 | 1.21E-05 | |
21090 | 27 | Y/F | 29 | rs377480514 | 0.6190 | None | gnomAD-4.0.0 | 1.43894E-05 | |
21091 | 28 | D/E | 30 | rs374168580 | 0.3801 | None | gnomAD-2.1.1 | 4.03E-06 | |
21091 | 28 | D/E | 30 | rs374168580 | 0.3801 | None | gnomAD-4.0.0 | 6.85058E-07 | |
21091 | 28 | D/V | 30 | None | 0.3801 | None | gnomAD-4.0.0 | 6.85045E-07 | |
21093 | 30 | G/D | 32 | rs1400431485 | 0.5983 | None | gnomAD-2.1.1 | 4.03E-06 | |
21093 | 30 | G/D | 32 | rs1400431485 | 0.5983 | None | gnomAD-4.0.0 | 1.59395E-06 | |
21093 | 30 | G/S | 32 | rs753537435 | 0.5983 | None | gnomAD-2.1.1 | 4.03E-06 | |
21093 | 30 | G/S | 32 | rs753537435 | 0.5983 | None | gnomAD-4.0.0 | 1.594E-06 | |
21094 | 31 | A/T | 33 | rs1408476291 | 0.2316 | None | gnomAD-3.1.2 | 6.58E-06 | |
21094 | 31 | A/T | 33 | rs1408476291 | 0.2316 | None | gnomAD-4.0.0 | 5.13148E-06 | |
21094 | 31 | A/V | 33 | None | 0.2316 | None | gnomAD-4.0.0 | 7.5313E-06 | |
21095 | 32 | P/L | 34 | rs538105258 | 0.7438 | None | gnomAD-2.1.1 | 1.21E-05 | |
21095 | 32 | P/L | 34 | rs538105258 | 0.7438 | None | gnomAD-3.1.2 | 1.97E-05 | |
21095 | 32 | P/L | 34 | rs538105258 | 0.7438 | None | 1000 genomes | 1.99681E-04 | |
21095 | 32 | P/L | 34 | rs538105258 | 0.7438 | None | gnomAD-4.0.0 | 6.20087E-06 | |
21096 | 33 | I/N | 35 | rs558727238 | 0.1630 | None | gnomAD-2.1.1 | 1.65271E-04 | |
21096 | 33 | I/N | 35 | rs558727238 | 0.1630 | None | gnomAD-3.1.2 | 4.6E-05 | |
21096 | 33 | I/N | 35 | rs558727238 | 0.1630 | None | 1000 genomes | 3.99361E-04 | |
21096 | 33 | I/N | 35 | rs558727238 | 0.1630 | None | gnomAD-4.0.0 | 7.37809E-05 | |
21096 | 33 | I/V | 35 | rs568922646 | 0.1630 | None | gnomAD-2.1.1 | 4.03E-06 | |
21096 | 33 | I/V | 35 | rs568922646 | 0.1630 | None | gnomAD-3.1.2 | 1.32E-05 | |
21096 | 33 | I/V | 35 | rs568922646 | 0.1630 | None | 1000 genomes | 1.99681E-04 | |
21096 | 33 | I/V | 35 | rs568922646 | 0.1630 | None | gnomAD-4.0.0 | 1.31422E-05 | |
21097 | 34 | I/T | 36 | rs759579228 | 0.2614 | None | gnomAD-2.1.1 | 8.06E-06 | |
21097 | 34 | I/T | 36 | rs759579228 | 0.2614 | None | gnomAD-4.0.0 | 1.27456E-05 | |
21098 | 35 | G/R | 37 | None | 0.0900 | None | gnomAD-4.0.0 | 1.59318E-06 | |
21099 | 36 | Y/C | 38 | rs1180774898 | 0.1192 | None | gnomAD-2.1.1 | 8.06E-06 | |
21099 | 36 | Y/C | 38 | rs1180774898 | 0.1192 | None | gnomAD-4.0.0 | 3.18631E-06 | |
21100 | 37 | V/A | 39 | None | 0.2033 | None | gnomAD-4.0.0 | 6.84561E-07 | |
21100 | 37 | V/I | 39 | rs774240012 | 0.2033 | None | gnomAD-2.1.1 | 4.03E-06 | |
21100 | 37 | V/I | 39 | rs774240012 | 0.2033 | None | gnomAD-4.0.0 | 1.36912E-06 | |
21101 | 38 | V/E | 40 | None | 0.0873 | None | gnomAD-4.0.0 | 1.20039E-06 | |
21101 | 38 | V/M | 40 | None | 0.0873 | None | gnomAD-4.0.0 | 1.59315E-06 | |
21102 | 39 | E/D | 41 | rs1201894498 | 0.1730 | None | gnomAD-2.1.1 | 4.03E-06 | |
21102 | 39 | E/D | 41 | rs1201894498 | 0.1730 | None | gnomAD-4.0.0 | 1.59315E-06 | |
21102 | 39 | E/K | 41 | rs1343764526 | 0.1730 | None | gnomAD-3.1.2 | 6.58E-06 | |
21102 | 39 | E/K | 41 | rs1343764526 | 0.1730 | None | gnomAD-4.0.0 | 3.10022E-06 | |
21103 | 40 | M/I | 42 | rs538999642 | 0.1739 | None | gnomAD-2.1.1 | 4.03E-06 | |
21103 | 40 | M/I | 42 | rs538999642 | 0.1739 | None | gnomAD-3.1.2 | 6.58E-06 | |
21103 | 40 | M/I | 42 | rs538999642 | 0.1739 | None | 1000 genomes | 1.99681E-04 | |
21103 | 40 | M/I | 42 | rs538999642 | 0.1739 | None | gnomAD-4.0.0 | 6.57229E-06 | |
21103 | 40 | M/T | 42 | rs770900534 | 0.1739 | None | gnomAD-2.1.1 | 4.03E-06 | |
21103 | 40 | M/T | 42 | rs770900534 | 0.1739 | None | gnomAD-4.0.0 | 1.59315E-06 | |
21103 | 40 | M/V | 42 | rs1444195248 | 0.1739 | None | gnomAD-2.1.1 | 7.16E-06 | |
21103 | 40 | M/V | 42 | rs1444195248 | 0.1739 | None | gnomAD-3.1.2 | 6.58E-06 | |
21103 | 40 | M/V | 42 | rs1444195248 | 0.1739 | None | gnomAD-4.0.0 | 2.4802E-06 | |
21105 | 42 | P/L | 44 | rs773378006 | 0.4020 | None | gnomAD-2.1.1 | 4.03E-06 | |
21105 | 42 | P/L | 44 | rs773378006 | 0.4020 | None | gnomAD-4.0.0 | 4.77937E-06 | |
21107 | 44 | I/T | 54 | None | 0.5824 | None | gnomAD-4.0.0 | 6.8456E-07 | |
21108 | 45 | A/V | 55 | rs769906829 | 0.6395 | None | gnomAD-2.1.1 | 4.03E-06 | |
21108 | 45 | A/V | 55 | rs769906829 | 0.6395 | None | gnomAD-4.0.0 | 2.73824E-06 | |
21109 | 46 | D/Y | 56 | None | 1.1019 | None | gnomAD-4.0.0 | 1.59305E-06 | |
21110 | 47 | A/E | 57 | None | 0.2997 | None | gnomAD-4.0.0 | 1.36913E-06 | |
21110 | 47 | A/G | 57 | rs370687831 | 0.2997 | None | gnomAD-2.1.1 | 1.43E-05 | |
21110 | 47 | A/G | 57 | rs370687831 | 0.2997 | None | gnomAD-3.1.2 | 6.58E-06 | |
21110 | 47 | A/G | 57 | rs370687831 | 0.2997 | None | gnomAD-4.0.0 | 8.06084E-06 | |
21110 | 47 | A/T | 57 | None | 0.2997 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21110 | 47 | A/V | 57 | rs370687831 | 0.2997 | None | gnomAD-2.1.1 | 1.36044E-04 | |
21110 | 47 | A/V | 57 | rs370687831 | 0.2997 | None | gnomAD-3.1.2 | 8.56E-05 | |
21110 | 47 | A/V | 57 | rs370687831 | 0.2997 | None | 1000 genomes | 1.99681E-04 | |
21110 | 47 | A/V | 57 | rs370687831 | 0.2997 | None | gnomAD-4.0.0 | 1.22144E-04 | |
21111 | 48 | S/F | 58 | rs547033801 | 0.3653 | None | gnomAD-2.1.1 | 4.03E-06 | |
21111 | 48 | S/F | 58 | rs547033801 | 0.3653 | None | gnomAD-3.1.2 | 1.32E-05 | |
21111 | 48 | S/F | 58 | rs547033801 | 0.3653 | None | 1000 genomes | 1.99681E-04 | |
21111 | 48 | S/F | 58 | rs547033801 | 0.3653 | None | gnomAD-4.0.0 | 4.33986E-06 | |
21112 | 49 | P/L | 59 | rs758801950 | 0.7048 | None | gnomAD-2.1.1 | 1.21E-05 | |
21112 | 49 | P/L | 59 | rs758801950 | 0.7048 | None | gnomAD-4.0.0 | 4.79173E-05 | |
21113 | 50 | D/A | 60 | rs748932912 | 0.7402 | None | gnomAD-2.1.1 | 1.21E-05 | |
21113 | 50 | D/A | 60 | rs748932912 | 0.7402 | None | gnomAD-4.0.0 | 6.16069E-06 | |
21115 | 52 | G/R | 64 | None | 0.4101 | None | gnomAD-4.0.0 | 1.59294E-06 | |
21115 | 52 | G/S | 64 | rs1559556478 | 0.4101 | None | gnomAD-4.0.0 | 4.77882E-06 | |
21116 | 53 | W/C | 65 | rs1224580080 | 0.2150 | None | gnomAD-3.1.2 | 6.58E-06 | |
21116 | 53 | W/C | 65 | rs1224580080 | 0.2150 | None | gnomAD-4.0.0 | 6.57834E-06 | |
21117 | 54 | K/E | 66 | rs1400590737 | 0.7165 | None | gnomAD-2.1.1 | 4.03E-06 | |
21117 | 54 | K/E | 66 | rs1400590737 | 0.7165 | None | gnomAD-4.0.0 | 1.59297E-06 | |
21117 | 54 | K/Q | 66 | None | 0.7165 | None | gnomAD-4.0.0 | 1.59297E-06 | |
21118 | 55 | R/G | 67 | None | 0.3228 | None | gnomAD-4.0.0 | 6.84526E-07 | |
21118 | 55 | R/Q | 67 | rs755796313 | 0.3228 | None | gnomAD-2.1.1 | 8.07E-06 | |
21118 | 55 | R/Q | 67 | rs755796313 | 0.3228 | None | gnomAD-3.1.2 | 6.58E-06 | |
21118 | 55 | R/Q | 67 | rs755796313 | 0.3228 | None | gnomAD-4.0.0 | 1.11605E-05 | |
21118 | 55 | R/W | 67 | rs200726948 | 0.3228 | None | gnomAD-2.1.1 | 2.90054E-04 | |
21118 | 55 | R/W | 67 | rs200726948 | 0.3228 | None | gnomAD-3.1.2 | 1.77695E-04 | |
21118 | 55 | R/W | 67 | rs200726948 | 0.3228 | None | gnomAD-4.0.0 | 1.7113E-04 | |
21119 | 56 | C/S | 68 | None | 0.1671 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21119 | 56 | C/Y | 68 | rs577266000 | 0.1671 | None | gnomAD-2.1.1 | 4.03E-06 | |
21119 | 56 | C/Y | 68 | rs577266000 | 0.1671 | None | gnomAD-3.1.2 | 6.58E-06 | |
21119 | 56 | C/Y | 68 | rs577266000 | 0.1671 | None | gnomAD-4.0.0 | 1.116E-05 | |
21122 | 59 | A/T | 72 | rs377528392 | 0.9469 | None | gnomAD-2.1.1 | 4.03E-06 | |
21122 | 59 | A/T | 72 | rs377528392 | 0.9469 | None | gnomAD-3.1.2 | 6.58E-06 | |
21122 | 59 | A/T | 72 | rs377528392 | 0.9469 | None | gnomAD-4.0.0 | 2.56477E-06 | |
21123 | 60 | A/T | 74 | rs754944741 | 0.5868 | None | gnomAD-2.1.1 | 4.03E-06 | |
21123 | 60 | A/T | 74 | rs754944741 | 0.5868 | None | gnomAD-4.0.0 | 1.59292E-06 | |
21125 | 62 | L/F | 77 | rs1040226223 | 0.1282 | None | gnomAD-2.1.1 | 4.04E-06 | |
21125 | 62 | L/F | 77 | rs1040226223 | 0.1282 | None | gnomAD-4.0.0 | 1.59301E-06 | |
21125 | 62 | L/I | 77 | None | 0.1282 | None | gnomAD-4.0.0 | 1.59301E-06 | |
21126 | 63 | V/I | 83 | rs2049411703 | 0.5866 | None | gnomAD-3.1.2 | 6.58E-06 | |
21126 | 63 | V/I | 83 | rs2049411703 | 0.5866 | None | gnomAD-4.0.0 | 2.03014E-06 | |
21127 | 64 | R/C | 88 | rs751590336 | 0.8299 | None | gnomAD-2.1.1 | 1.08E-05 | |
21127 | 64 | R/C | 88 | rs751590336 | 0.8299 | None | gnomAD-4.0.0 | 7.52999E-06 | |
21127 | 64 | R/H | 88 | rs201226615 | 0.8299 | None | gnomAD-2.1.1 | 1.21E-05 | |
21127 | 64 | R/H | 88 | rs201226615 | 0.8299 | None | gnomAD-3.1.2 | 1.32E-05 | |
21127 | 64 | R/H | 88 | rs201226615 | 0.8299 | None | gnomAD-4.0.0 | 1.11597E-05 | |
21127 | 64 | R/L | 88 | rs201226615 | 0.8299 | None | gnomAD-4.0.0 | 2.05363E-06 | |
21128 | 65 | K/E | 89 | rs2049409571 | 0.3994 | None | gnomAD-4.0.0 | 2.05362E-06 | |
21129 | 66 | E/K | 90 | rs2049409124 | 0.4429 | None | gnomAD-4.0.0 | 1.59314E-06 | |
21130 | 67 | F/L | 91 | rs1389556175 | 0.1920 | None | gnomAD-4.0.0 | 2.05369E-06 | |
21133 | 70 | T/A | 94 | rs766276741 | 0.5221 | None | gnomAD-2.1.1 | 1.21E-05 | |
21133 | 70 | T/A | 94 | rs766276741 | 0.5221 | None | gnomAD-3.1.2 | 6.58E-06 | |
21133 | 70 | T/A | 94 | rs766276741 | 0.5221 | None | gnomAD-4.0.0 | 3.10019E-06 | |
21133 | 70 | T/I | 94 | rs1576043145 | 0.5221 | None | gnomAD-4.0.0 | 1.36918E-06 | |
21134 | 71 | S/I | 96 | None | 0.7610 | None | gnomAD-4.0.0 | 1.59341E-06 | |
21134 | 71 | S/N | 96 | None | 0.7610 | None | gnomAD-4.0.0 | 1.59341E-06 | |
21135 | 72 | L/V | 97 | rs1218574817 | 0.1166 | None | gnomAD-2.1.1 | 4.04E-06 | |
21135 | 72 | L/V | 97 | rs1218574817 | 0.1166 | None | gnomAD-4.0.0 | 4.78037E-06 | |
21136 | 73 | D/E | 98 | rs1047829961 | 0.4642 | None | gnomAD-4.0.0 | 6.8466E-07 | |
21136 | 73 | D/G | 98 | rs773075736 | 0.4642 | None | gnomAD-2.1.1 | 8.09E-06 | |
21136 | 73 | D/G | 98 | rs773075736 | 0.4642 | None | gnomAD-4.0.0 | 4.78097E-06 | |
21136 | 73 | D/N | 98 | rs762901628 | 0.4642 | None | gnomAD-2.1.1 | 4.04E-06 | |
21136 | 73 | D/N | 98 | rs762901628 | 0.4642 | None | gnomAD-3.1.2 | 6.58E-06 | |
21136 | 73 | D/N | 98 | rs762901628 | 0.4642 | None | gnomAD-4.0.0 | 1.24021E-06 | |
21139 | 76 | Q/R | 102 | rs1576042907 | 0.2762 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21140 | 77 | E/K | 103 | rs765307639 | 0.3681 | None | gnomAD-3.1.2 | 6.58E-06 | |
21140 | 77 | E/K | 103 | rs765307639 | 0.3681 | None | gnomAD-4.0.0 | 1.86058E-06 | |
21140 | 77 | E/Q | 103 | rs765307639 | 0.3681 | None | gnomAD-2.1.1 | 4.05E-06 | |
21140 | 77 | E/Q | 103 | rs765307639 | 0.3681 | None | gnomAD-3.1.2 | 6.58E-06 | |
21140 | 77 | E/Q | 103 | rs765307639 | 0.3681 | None | gnomAD-4.0.0 | 1.86058E-06 | |
21141 | 78 | Y/C | 104 | rs762123565 | 0.1329 | None | gnomAD-2.1.1 | 8.1E-06 | |
21141 | 78 | Y/C | 104 | rs762123565 | 0.1329 | None | gnomAD-4.0.0 | 3.18897E-06 | |
21143 | 80 | F/L | 106 | None | 0.1043 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21143 | 80 | F/S | 106 | None | 0.1043 | None | gnomAD-4.0.0 | 1.595E-06 | |
21145 | 82 | V/A | 108 | None | 0.0578 | None | gnomAD-4.0.0 | 1.20033E-06 | |
21145 | 82 | V/L | 108 | None | 0.0578 | None | gnomAD-4.0.0 | 6.85038E-07 | |
21145 | 82 | V/M | 108 | rs768769006 | 0.0578 | None | gnomAD-2.1.1 | 4.07E-06 | |
21145 | 82 | V/M | 108 | rs768769006 | 0.0578 | None | gnomAD-3.1.2 | 6.58E-06 | |
21145 | 82 | V/M | 108 | rs768769006 | 0.0578 | None | gnomAD-4.0.0 | 3.10217E-06 | |
21146 | 83 | C/Y | 109 | rs373360112 | 0.1245 | None | gnomAD-2.1.1 | 1.22E-05 | |
21146 | 83 | C/Y | 109 | rs373360112 | 0.1245 | None | gnomAD-4.0.0 | 4.11121E-06 | |
21147 | 84 | A/S | 110 | None | 0.0868 | None | gnomAD-4.0.0 | 1.37062E-06 | |
21147 | 84 | A/T | 110 | rs72646853 | 0.0868 | None | gnomAD-2.1.1 | 5.39335E-04 | |
21147 | 84 | A/T | 110 | rs72646853 | 0.0868 | None | gnomAD-3.1.2 | 3.15698E-04 | |
21147 | 84 | A/T | 110 | rs72646853 | 0.0868 | None | 1000 genomes | 7.98722E-04 | |
21147 | 84 | A/T | 110 | rs72646853 | 0.0868 |
ARVC |
Literature | None | |
21147 | 84 | A/T | 110 | rs72646853 | 0.0868 | None | gnomAD-4.0.0 | 4.20144E-04 | |
21148 | 85 | Q/H | 111 | None | 0.3045 | None | gnomAD-4.0.0 | 1.59737E-06 | |
21150 | 87 | Q/H | 113 | None | 0.7472 | None | gnomAD-4.0.0 | 6.85493E-07 | |
21151 | 88 | V/A | 114 | None | 0.6956 | None | gnomAD-4.0.0 | 2.74231E-06 | |
21151 | 88 | V/I | 114 | rs1407254321 | 0.6956 | None | gnomAD-2.1.1 | 8.2E-06 | |
21151 | 88 | V/I | 114 | rs1407254321 | 0.6956 | None | gnomAD-4.0.0 | 3.1974E-06 | |
21152 | 89 | G/V | 115 | None | 0.2017 | None | gnomAD-4.0.0 | 2.0573E-06 | |
21153 | 90 | I/T | 117 | rs772411127 | 0.5117 | None | gnomAD-2.1.1 | 4.38E-05 | |
21153 | 90 | I/T | 117 | rs772411127 | 0.5117 | None | gnomAD-3.1.2 | 3.29E-05 | |
21153 | 90 | I/T | 117 | rs772411127 | 0.5117 | None | gnomAD-4.0.0 | 1.86321E-05 | |
21155 | 92 | R/C | 119 | rs374727686 | 0.8272 | None | gnomAD-2.1.1 | 2.95E-05 | |
21155 | 92 | R/C | 119 | rs374727686 | 0.8272 | None | gnomAD-3.1.2 | 4.61E-05 | |
21155 | 92 | R/C | 119 | rs374727686 | 0.8272 | None | gnomAD-4.0.0 | 3.54365E-05 | |
21155 | 92 | R/H | 119 | rs373169150 | 0.8272 | None | gnomAD-2.1.1 | 4.8E-05 | |
21155 | 92 | R/H | 119 | rs373169150 | 0.8272 | None | gnomAD-3.1.2 | 5.26E-05 | |
21155 | 92 | R/H | 119 | rs373169150 | 0.8272 | None | gnomAD-4.0.0 | 6.03448E-05 | |
21155 | 92 | R/L | 119 | None | 0.8272 | None | gnomAD-4.0.0 | 6.87085E-07 | |
21156 | 93 | P/S | 120 | None | 0.3789 | None | gnomAD-4.0.0 | 1.60695E-06 | |
21157 | 94 | A/T | 121 | rs1195739289 | 0.1051 | None | gnomAD-4.0.0 | 1.60837E-06 | |
21158 | 95 | E/K | 122 | None | 0.4393 | None | gnomAD-4.0.0 | 1.37511E-06 | |
21159 | 96 | L/P | 123 | None | 0.2369 | None | gnomAD-4.0.0 | 1.20032E-06 | |
21159 | 96 | L/V | 123 | rs1218951803 | 0.2369 | None | gnomAD-2.1.1 | 4.23E-06 | |
21159 | 96 | L/V | 123 | rs1218951803 | 0.2369 | None | gnomAD-4.0.0 | 1.61256E-06 | |
21161 | 98 | E/G | 125 | rs765979598 | 0.8300 | None | gnomAD-4.0.0 | 1.37998E-06 | |
21161 | 98 | E/K | 125 | rs753274370 | 0.8300 | None | gnomAD-2.1.1 | 1.13E-05 | |
21161 | 98 | E/K | 125 | rs753274370 | 0.8300 | None | gnomAD-3.1.2 | 1.32E-05 | |
21161 | 98 | E/K | 125 | rs753274370 | 0.8300 | None | gnomAD-4.0.0 | 2.99388E-05 | |
21162 | 99 | A/P | 126 | None | 0.2060 | None | gnomAD-4.0.0 | 2.76471E-06 | |
21165 | 102 | P/L | 130 | None | 0.1193 | None | gnomAD-4.0.0 | 2.77185E-06 | |
21165 | 102 | P/R | 130 | None | 0.1193 | None | gnomAD-4.0.0 | 6.92963E-07 | |
21166 | 103 | K/T | 131 | rs1315515272 | 0.7247 | None | gnomAD-2.1.1 | 4.42E-06 | |
21166 | 103 | K/T | 131 | rs1315515272 | 0.7247 | None | gnomAD-3.1.2 | 6.58E-06 | |
21166 | 103 | K/T | 131 | rs1315515272 | 0.7247 | None | gnomAD-4.0.0 | 6.57834E-06 |