10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
A | R | I | L | T | K | P | R | S | M | T | V | Y | E | G | E | S | A | R | F | S | C | D | T | D | G | E | P | V | P | T | V | T | W | L | R | K | G | Q | V | L | S | T | S | A | R | H | Q | V | T | T | T | K | Y | K | S | T | F | E | I | S | S | V | Q | A | S | D | E | G | N | Y | S | V | V | V | E | N | S | E | G | K | Q | E | A | E | F | T | L | T | I |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
35129 | 1 | A/G | 1 | rs1688988300 | 0.1621 | None | gnomAD-4.0.0 | 2.73655E-06 | |
35130 | 2 | R/K | 2 | None | 0.6311 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35131 | 3 | I/N | 3 | None | 0.1286 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35131 | 3 | I/V | 3 | rs779464128 | 0.1286 | None | gnomAD-2.1.1 | 2.01E-05 | |
35131 | 3 | I/V | 3 | rs779464128 | 0.1286 | None | gnomAD-3.1.2 | 6.57E-06 | |
35131 | 3 | I/V | 3 | rs779464128 | 0.1286 | None | gnomAD-4.0.0 | 3.46993E-05 | |
35132 | 4 | L/V | 4 | None | 0.4541 | None | gnomAD-4.0.0 | 6.8414E-07 | |
35133 | 5 | T/A | 5 | rs1391236798 | 0.3465 | None | gnomAD-3.1.2 | 6.57E-06 | |
35133 | 5 | T/A | 5 | rs1391236798 | 0.3465 | None | gnomAD-4.0.0 | 6.57117E-06 | |
35133 | 5 | T/P | 5 | rs1391236798 | 0.3465 | None | gnomAD-2.1.1 | 4.01E-06 | |
35133 | 5 | T/P | 5 | rs1391236798 | 0.3465 | None | gnomAD-3.1.2 | 6.57E-06 | |
35133 | 5 | T/P | 5 | rs1391236798 | 0.3465 | None | gnomAD-4.0.0 | 3.09814E-06 | |
35134 | 6 | K/M | 7 | rs1394892060 | 0.6325 | None | gnomAD-2.1.1 | 1.07E-05 | |
35134 | 6 | K/M | 7 | rs1394892060 | 0.6325 | None | gnomAD-3.1.2 | 1.31E-05 | |
35134 | 6 | K/M | 7 | rs1394892060 | 0.6325 | None | gnomAD-4.0.0 | 3.8425E-06 | |
35134 | 6 | K/T | 7 | None | 0.6325 | None | gnomAD-4.0.0 | 1.59088E-06 | |
35135 | 7 | P/L | 8 | rs1575228534 | 0.1500 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35136 | 8 | R/G | 9 | rs372875128 | 0.7433 | None | gnomAD-2.1.1 | 1.43E-05 | |
35136 | 8 | R/G | 9 | rs372875128 | 0.7433 | None | gnomAD-3.1.2 | 3.29E-05 | |
35136 | 8 | R/G | 9 | rs372875128 | 0.7433 | None | gnomAD-4.0.0 | 3.71781E-06 | |
35136 | 8 | R/Q | 9 | rs554213990 | 0.7433 | None | gnomAD-2.1.1 | 1.61E-05 | |
35136 | 8 | R/Q | 9 | rs554213990 | 0.7433 | None | gnomAD-3.1.2 | 1.97E-05 | |
35136 | 8 | R/Q | 9 | rs554213990 | 0.7433 | None | 1000 genomes | 1.99681E-04 | |
35136 | 8 | R/Q | 9 | rs554213990 | 0.7433 | None | gnomAD-4.0.0 | 1.92081E-05 | |
35136 | 8 | R/W | 9 | rs372875128 | 0.7433 | None | gnomAD-2.1.1 | 4.99E-05 | |
35136 | 8 | R/W | 9 | rs372875128 | 0.7433 | None | gnomAD-3.1.2 | 1.97E-05 | |
35136 | 8 | R/W | 9 | rs372875128 | 0.7433 | None | gnomAD-4.0.0 | 4.27548E-05 | |
35137 | 9 | S/C | 11 | rs1427963030 | 0.3396 | None | gnomAD-2.1.1 | 4.01E-06 | |
35137 | 9 | S/C | 11 | rs1427963030 | 0.3396 | None | gnomAD-3.1.2 | 6.57E-06 | |
35137 | 9 | S/C | 11 | rs1427963030 | 0.3396 | None | gnomAD-4.0.0 | 3.84244E-06 | |
35137 | 9 | S/P | 11 | rs2154133339 | 0.3396 | None | gnomAD-3.1.2 | 6.58E-06 | |
35137 | 9 | S/P | 11 | rs2154133339 | 0.3396 | None | gnomAD-4.0.0 | 2.56149E-06 | |
35138 | 10 | M/T | 13 | rs771741670 | 0.2200 | None | gnomAD-2.1.1 | 2.5E-05 | |
35138 | 10 | M/T | 13 | rs771741670 | 0.2200 | None | gnomAD-3.1.2 | 4.6E-05 | |
35138 | 10 | M/T | 13 | rs771741670 | 0.2200 | None | gnomAD-4.0.0 | 7.00186E-05 | |
35138 | 10 | M/V | 13 | rs368992068 | 0.2200 | None | gnomAD-2.1.1 | 1.2E-05 | |
35138 | 10 | M/V | 13 | rs368992068 | 0.2200 | None | gnomAD-3.1.2 | 1.31E-05 | |
35138 | 10 | M/V | 13 | rs368992068 | 0.2200 | None | gnomAD-4.0.0 | 9.91398E-06 | |
35139 | 11 | T/I | 14 | rs200782068 | 0.4521 | None | gnomAD-2.1.1 | 4.28E-05 | |
35139 | 11 | T/I | 14 | rs200782068 | 0.4521 | None | gnomAD-3.1.2 | 7.89E-05 | |
35139 | 11 | T/I | 14 | rs200782068 | 0.4521 | None | gnomAD-4.0.0 | 4.58525E-05 | |
35139 | 11 | T/N | 14 | None | 0.4521 | None | gnomAD-4.0.0 | 6.84135E-07 | |
35140 | 12 | V/F | 16 | None | 0.1585 | None | gnomAD-4.0.0 | 6.84137E-07 | |
35140 | 12 | V/I | 16 | rs371893623 | 0.1585 | None | gnomAD-2.1.1 | 3.21E-05 | |
35140 | 12 | V/I | 16 | rs371893623 | 0.1585 | None | gnomAD-3.1.2 | 5.91E-05 | |
35140 | 12 | V/I | 16 | rs371893623 | 0.1585 | None | gnomAD-4.0.0 | 4.52332E-05 | |
35141 | 13 | Y/C | 18 | None | 0.5203 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35142 | 14 | E/K | 23 | rs765274398 | 0.5884 | None | gnomAD-2.1.1 | 3.21E-05 | |
35142 | 14 | E/K | 23 | rs765274398 | 0.5884 | None | gnomAD-3.1.2 | 4.6E-05 | |
35142 | 14 | E/K | 23 | rs765274398 | 0.5884 | None | gnomAD-4.0.0 | 2.41656E-05 | |
35143 | 15 | G/S | 24 | rs1441874026 | 0.3834 | None | gnomAD-3.1.2 | 6.57E-06 | |
35143 | 15 | G/S | 24 | rs1441874026 | 0.3834 | None | gnomAD-4.0.0 | 6.57194E-06 | |
35144 | 16 | E/K | 25 | rs568472002 | 0.3257 | None | gnomAD-2.1.1 | 5.7E-05 | |
35144 | 16 | E/K | 25 | rs568472002 | 0.3257 | None | gnomAD-3.1.2 | 1.97E-05 | |
35144 | 16 | E/K | 25 | rs568472002 | 0.3257 | None | 1000 genomes | 1.99681E-04 | |
35144 | 16 | E/K | 25 | rs568472002 | 0.3257 | None | gnomAD-4.0.0 | 3.03598E-05 | |
35145 | 17 | S/T | 26 | rs768379481 | 0.4491 | None | gnomAD-2.1.1 | 4.01E-06 | |
35145 | 17 | S/T | 26 | rs768379481 | 0.4491 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35146 | 18 | A/P | 28 | rs746800387 | 0.1173 | None | gnomAD-2.1.1 | 3.19E-05 | |
35146 | 18 | A/P | 28 | rs746800387 | 0.1173 | None | gnomAD-3.1.2 | 6.57E-06 | |
35146 | 18 | A/P | 28 | rs746800387 | 0.1173 | None | gnomAD-4.0.0 | 6.56978E-06 | |
35146 | 18 | A/T | 28 | rs746800387 | 0.1173 | None | gnomAD-2.1.1 | 4.01E-06 | |
35146 | 18 | A/T | 28 | rs746800387 | 0.1173 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35147 | 19 | R/S | 29 | None | 0.4182 | None | gnomAD-4.0.0 | 6.84137E-07 | |
35150 | 22 | C/S | 33 | None | 0.0877 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35150 | 22 | C/Y | 33 | rs554953169 | 0.0877 | None | gnomAD-2.1.1 | 3.61E-05 | |
35150 | 22 | C/Y | 33 | rs554953169 | 0.0877 | None | gnomAD-3.1.2 | 3.29E-05 | |
35150 | 22 | C/Y | 33 | rs554953169 | 0.0877 | None | 1000 genomes | 1.99681E-04 | |
35150 | 22 | C/Y | 33 | rs554953169 | 0.0877 | None | gnomAD-4.0.0 | 3.65547E-05 | |
35152 | 24 | T/I | 35 | None | 0.1391 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35152 | 24 | T/N | 35 | None | 0.1391 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35152 | 24 | T/P | 35 | rs772336949 | 0.1391 | None | gnomAD-2.1.1 | 1.2E-05 | |
35152 | 24 | T/P | 35 | rs772336949 | 0.1391 | None | gnomAD-4.0.0 | 4.10482E-06 | |
35153 | 25 | D/N | 38 | rs778907927 | 0.4330 | None | gnomAD-2.1.1 | 1.78E-05 | |
35153 | 25 | D/N | 38 | rs778907927 | 0.4330 | None | gnomAD-3.1.2 | 6.57E-06 | |
35153 | 25 | D/N | 38 | rs778907927 | 0.4330 | None | gnomAD-4.0.0 | 6.81589E-06 | |
35154 | 26 | G/C | 40 | rs1448128592 | 0.1808 | None | gnomAD-2.1.1 | 4.01E-06 | |
35154 | 26 | G/C | 40 | rs1448128592 | 0.1808 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35155 | 27 | E/K | 41 | rs748014260 | 0.4919 | None | gnomAD-2.1.1 | 8.03E-06 | |
35155 | 27 | E/K | 41 | rs748014260 | 0.4919 | None | gnomAD-4.0.0 | 6.84135E-06 | |
35156 | 28 | P/L | 42 | rs538363206 | 0.4470 | None | gnomAD-2.1.1 | 1.61E-05 | |
35156 | 28 | P/L | 42 | rs538363206 | 0.4470 | None | gnomAD-4.0.0 | 9.5779E-06 | |
35156 | 28 | P/R | 42 | rs538363206 | 0.4470 | None | gnomAD-2.1.1 | 1.61E-05 | |
35156 | 28 | P/R | 42 | rs538363206 | 0.4470 | None | gnomAD-3.1.2 | 1.31E-05 | |
35156 | 28 | P/R | 42 | rs538363206 | 0.4470 | None | 1000 genomes | 1.99681E-04 | |
35156 | 28 | P/R | 42 | rs538363206 | 0.4470 | None | gnomAD-4.0.0 | 4.33723E-06 | |
35158 | 30 | P/A | 44 | rs758006957 | 0.1592 | None | gnomAD-2.1.1 | 4.01E-06 | |
35158 | 30 | P/A | 44 | rs758006957 | 0.1592 | None | gnomAD-4.0.0 | 7.52548E-06 | |
35158 | 30 | P/Q | 44 | rs749980197 | 0.1592 | None | gnomAD-2.1.1 | 4.01E-06 | |
35158 | 30 | P/Q | 44 | rs749980197 | 0.1592 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35158 | 30 | P/T | 44 | rs758006957 | 0.1592 | None | gnomAD-2.1.1 | 4.01E-06 | |
35158 | 30 | P/T | 44 | rs758006957 | 0.1592 | None | gnomAD-4.0.0 | 6.84135E-07 | |
35159 | 31 | T/N | 45 | rs1468368780 | 0.5948 | None | gnomAD-2.1.1 | 4.01E-06 | |
35159 | 31 | T/N | 45 | rs1468368780 | 0.5948 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35161 | 33 | T/A | 47 | rs764804165 | 0.3249 | None | gnomAD-2.1.1 | 4.01E-06 | |
35161 | 33 | T/A | 47 | rs764804165 | 0.3249 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35161 | 33 | T/N | 47 | rs372263729 | 0.3249 | None | gnomAD-2.1.1 | 4.63E-05 | |
35161 | 33 | T/N | 47 | rs372263729 | 0.3249 | None | gnomAD-3.1.2 | 1.70913E-04 | |
35161 | 33 | T/N | 47 | rs372263729 | 0.3249 | None | gnomAD-4.0.0 | 3.22217E-05 | |
35161 | 33 | T/S | 47 | rs764804165 | 0.3249 | None | gnomAD-3.1.2 | 6.57E-06 | |
35161 | 33 | T/S | 47 | rs764804165 | 0.3249 | None | gnomAD-4.0.0 | 6.84137E-07 | |
35162 | 34 | W/R | 48 | None | 0.1209 | None | gnomAD-4.0.0 | 3.18174E-06 | |
35162 | 34 | W/S | 48 | rs886042795 | 0.1209 | None | gnomAD-2.1.1 | 4.01E-06 | |
35162 | 34 | W/S | 48 | rs886042795 | 0.1209 | None | gnomAD-3.1.2 | 6.57E-06 | |
35162 | 34 | W/S | 48 | rs886042795 | 0.1209 | None | gnomAD-4.0.0 | 6.57307E-06 | |
35164 | 36 | R/C | 50 | rs200123047 | 0.2029 | None | gnomAD-2.1.1 | 5.35E-05 | |
35164 | 36 | R/C | 50 | rs200123047 | 0.2029 | None | gnomAD-3.1.2 | 6.57E-05 | |
35164 | 36 | R/C | 50 | rs200123047 | 0.2029 | None | 1000 genomes | 1.99681E-04 | |
35164 | 36 | R/C | 50 | rs200123047 | 0.2029 | None | gnomAD-4.0.0 | 5.39054E-05 | |
35164 | 36 | R/H | 50 | rs768358201 | 0.2029 | None | gnomAD-2.1.1 | 3.21E-05 | |
35164 | 36 | R/H | 50 | rs768358201 | 0.2029 | None | gnomAD-3.1.2 | 1.31E-05 | |
35164 | 36 | R/H | 50 | rs768358201 | 0.2029 | None | gnomAD-4.0.0 | 4.15155E-05 | |
35165 | 37 | K/E | 51 | rs879156291 | 0.8759 | None | gnomAD-3.1.2 | 6.57E-06 | |
35165 | 37 | K/E | 51 | rs879156291 | 0.8759 | None | gnomAD-4.0.0 | 2.02984E-06 | |
35165 | 37 | K/T | 51 | None | 0.8759 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35166 | 38 | G/V | 52 | rs1060500538 | 0.4442 | None | gnomAD-2.1.1 | 4.01E-06 | |
35166 | 38 | G/V | 52 | rs1060500538 | 0.4442 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35167 | 39 | Q/E | 55 | rs1558994144 | 0.8132 | None | gnomAD-2.1.1 | 4.01E-06 | |
35167 | 39 | Q/E | 55 | rs1558994144 | 0.8132 | None | gnomAD-4.0.0 | 2.73654E-06 | |
35168 | 40 | V/L | 56 | rs1382618116 | 0.5395 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35168 | 40 | V/M | 56 | rs1382618116 | 0.5395 | None | gnomAD-2.1.1 | 8.03E-06 | |
35168 | 40 | V/M | 56 | rs1382618116 | 0.5395 | None | gnomAD-4.0.0 | 3.18174E-06 | |
35169 | 41 | L/P | 58 | None | 0.2269 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35169 | 41 | L/V | 58 | None | 0.2269 | None | gnomAD-4.0.0 | 1.36827E-06 | |
35171 | 43 | T/I | 70 | rs774524898 | 0.4964 | None | gnomAD-2.1.1 | 1.64534E-04 | |
35171 | 43 | T/I | 70 | rs774524898 | 0.4964 | None | gnomAD-3.1.2 | 7.23E-05 | |
35171 | 43 | T/I | 70 | rs774524898 | 0.4964 | None | gnomAD-4.0.0 | 1.01619E-04 | |
35172 | 44 | S/F | 73 | rs749354699 | 0.2502 | None | gnomAD-2.1.1 | 1.78E-05 | |
35172 | 44 | S/F | 73 | rs749354699 | 0.2502 | None | gnomAD-3.1.2 | 1.97E-05 | |
35172 | 44 | S/F | 73 | rs749354699 | 0.2502 | None | gnomAD-4.0.0 | 8.97273E-06 | |
35172 | 44 | S/Y | 73 | rs749354699 | 0.2502 | None | gnomAD-2.1.1 | 4.01E-06 | |
35172 | 44 | S/Y | 73 | rs749354699 | 0.2502 | None | gnomAD-4.0.0 | 1.59224E-06 | |
35174 | 46 | R/C | 115 | rs778207634 | 0.2643 | None | gnomAD-2.1.1 | 4.82E-05 | |
35174 | 46 | R/C | 115 | rs778207634 | 0.2643 | None | gnomAD-3.1.2 | 4.6E-05 | |
35174 | 46 | R/C | 115 | rs778207634 | 0.2643 | None | gnomAD-4.0.0 | 4.70925E-05 | |
35174 | 46 | R/H | 115 | rs756575734 | 0.2643 | None | gnomAD-2.1.1 | 2.85E-05 | |
35174 | 46 | R/H | 115 | rs756575734 | 0.2643 | None | gnomAD-3.1.2 | 5.26E-05 | |
35174 | 46 | R/H | 115 | rs756575734 | 0.2643 | None | gnomAD-4.0.0 | 7.3738E-05 | |
35175 | 47 | H/Q | 121 | rs1215297501 | 0.2829 | None | gnomAD-4.0.0 | 3.18173E-06 | |
35175 | 47 | H/Y | 121 | None | 0.2829 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35176 | 48 | Q/L | 122 | None | 0.6268 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35177 | 49 | V/M | 123 | rs55865284 | 0.2210 | None | gnomAD-2.1.1 | 3.28591E-03 | |
35177 | 49 | V/M | 123 | rs55865284 | 0.2210 | None | gnomAD-3.1.2 | 1.00823E-02 | |
35177 | 49 | V/M | 123 | rs55865284 | 0.2210 | None | 1000 genomes | 1.05831E-02 | |
35177 | 49 | V/M | 123 | rs55865284 | 0.2210 | None | gnomAD-4.0.0 | 1.88666E-03 | |
35178 | 50 | T/I | 125 | rs1185377965 | 0.5087 | None | gnomAD-2.1.1 | 4.01E-06 | |
35178 | 50 | T/I | 125 | rs1185377965 | 0.5087 | None | gnomAD-4.0.0 | 3.42068E-06 | |
35180 | 52 | T/A | 130 | rs1473790126 | 0.4944 | None | gnomAD-2.1.1 | 4.01E-06 | |
35180 | 52 | T/A | 130 | rs1473790126 | 0.4944 | None | gnomAD-4.0.0 | 1.36827E-06 | |
35180 | 52 | T/K | 130 | rs1575225765 | 0.4944 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35181 | 53 | K/E | 131 | rs903998878 | 0.3047 | None | gnomAD-3.1.2 | 6.57E-06 | |
35181 | 53 | K/E | 131 | rs903998878 | 0.3047 | None | gnomAD-4.0.0 | 6.56978E-06 | |
35182 | 54 | Y/C | 134 | rs878913505 | 0.3600 | None | gnomAD-4.0.0 | 2.73654E-06 | |
35182 | 54 | Y/H | 134 | rs886042549 | 0.3600 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35183 | 55 | K/E | 135 | None | 0.2605 | None | gnomAD-4.0.0 | 1.32035E-05 | |
35184 | 56 | S/A | 136 | None | 0.0871 | None | gnomAD-4.0.0 | 1.59085E-06 | |
35185 | 57 | T/A | 137 | rs1688904998 | 0.1979 | None | gnomAD-3.1.2 | 6.57E-06 | |
35185 | 57 | T/A | 137 | rs1688904998 | 0.1979 | None | gnomAD-4.0.0 | 3.84275E-06 | |
35185 | 57 | T/I | 137 | rs781567438 | 0.1979 | None | gnomAD-2.1.1 | 4.01E-06 | |
35185 | 57 | T/I | 137 | rs781567438 | 0.1979 | None | gnomAD-4.0.0 | 1.36828E-06 | |
35185 | 57 | T/N | 137 | None | 0.1979 | None | gnomAD-4.0.0 | 6.84138E-07 | |
35186 | 58 | F/S | 138 | rs758159045 | 0.0866 | None | gnomAD-2.1.1 | 1.2E-05 | |
35186 | 58 | F/S | 138 | rs758159045 | 0.0866 | None | gnomAD-4.0.0 | 6.84138E-06 | |
35188 | 60 | I/L | 140 | rs727504491 | 0.0822 | None | gnomAD-2.1.1 | 2.49E-05 | |
35188 | 60 | I/L | 140 | rs727504491 | 0.0822 | None | gnomAD-3.1.2 | 2.63E-05 | |
35188 | 60 | I/L | 140 | rs727504491 | 0.0822 | None | gnomAD-4.0.0 | 2.54028E-05 | |
35188 | 60 | I/M | 140 | None | 0.0822 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35188 | 60 | I/T | 140 | rs764963502 | 0.0822 | None | gnomAD-2.1.1 | 4.01E-06 | |
35188 | 60 | I/T | 140 | rs764963502 | 0.0822 | None | gnomAD-4.0.0 | 3.18176E-06 | |
35189 | 61 | S/C | 141 | None | 0.4388 | None | gnomAD-4.0.0 | 2.40064E-06 | |
35191 | 63 | V/A | 144 | None | 0.0981 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35191 | 63 | V/I | 144 | rs1290162863 | 0.0981 | None | gnomAD-2.1.1 | 7.13E-06 | |
35191 | 63 | V/I | 144 | rs1290162863 | 0.0981 | None | gnomAD-3.1.2 | 1.31E-05 | |
35191 | 63 | V/I | 144 | rs1290162863 | 0.0981 | None | gnomAD-4.0.0 | 2.35457E-05 | |
35193 | 65 | A/D | 146 | rs1380574216 | 0.4226 | None | gnomAD-2.1.1 | 3.18E-05 | |
35193 | 65 | A/D | 146 | rs1380574216 | 0.4226 | None | gnomAD-3.1.2 | 6.57E-06 | |
35193 | 65 | A/D | 146 | rs1380574216 | 0.4226 | None | gnomAD-4.0.0 | 6.57237E-06 | |
35193 | 65 | A/S | 146 | rs763944153 | 0.4226 | None | gnomAD-2.1.1 | 2.5E-05 | |
35193 | 65 | A/S | 146 | rs763944153 | 0.4226 | None | gnomAD-3.1.2 | 6.58E-06 | |
35193 | 65 | A/S | 146 | rs763944153 | 0.4226 | None | gnomAD-4.0.0 | 1.40908E-05 | |
35193 | 65 | A/V | 146 | rs1380574216 | 0.4226 | None | gnomAD-2.1.1 | 4.01E-06 | |
35193 | 65 | A/V | 146 | rs1380574216 | 0.4226 | None | gnomAD-4.0.0 | 1.5909E-06 | |
35194 | 66 | S/T | 148 | rs1269069525 | 0.4470 | None | gnomAD-2.1.1 | 4.01E-06 | |
35194 | 66 | S/T | 148 | rs1269069525 | 0.4470 | None | gnomAD-4.0.0 | 1.59088E-06 | |
35195 | 67 | D/N | 149 | rs752458663 | 0.1306 | None | gnomAD-2.1.1 | 1.61E-05 | |
35195 | 67 | D/N | 149 | rs752458663 | 0.1306 | None | gnomAD-3.1.2 | 6.57E-06 | |
35195 | 67 | D/N | 149 | rs752458663 | 0.1306 | None | gnomAD-4.0.0 | 1.30129E-05 | |
35195 | 67 | D/V | 149 | None | 0.1306 | None | gnomAD-4.0.0 | 4.80129E-06 | |
35197 | 69 | G/D | 152 | rs397517796 | 0.2511 | None | gnomAD-2.1.1 | 6.42E-05 | |
35197 | 69 | G/D | 152 | rs397517796 | 0.2511 | None | gnomAD-3.1.2 | 2.63E-05 | |
35197 | 69 | G/D | 152 | rs397517796 | 0.2511 | None | gnomAD-4.0.0 | 4.33766E-05 | |
35198 | 70 | N/D | 153 | rs1363509929 | 0.7455 | None | gnomAD-2.1.1 | 4.01E-06 | |
35198 | 70 | N/D | 153 | rs1363509929 | 0.7455 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35198 | 70 | N/K | 153 | rs1165290743 | 0.7455 | None | gnomAD-2.1.1 | 4.01E-06 | |
35198 | 70 | N/K | 153 | rs1165290743 | 0.7455 | None | gnomAD-4.0.0 | 6.84141E-07 | |
35198 | 70 | N/S | 153 | None | 0.7455 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35199 | 71 | Y/C | 154 | rs759304538 | 0.1008 | None | gnomAD-2.1.1 | 4.01E-06 | |
35199 | 71 | Y/C | 154 | rs759304538 | 0.1008 | None | gnomAD-4.0.0 | 1.59093E-06 | |
35199 | 71 | Y/H | 154 | rs1056456150 | 0.1008 | None | gnomAD-3.1.2 | 6.58E-06 | |
35199 | 71 | Y/H | 154 | rs1056456150 | 0.1008 | None | gnomAD-4.0.0 | 6.57566E-06 | |
35200 | 72 | S/G | 155 | None | 0.1429 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35200 | 72 | S/T | 155 | None | 0.1429 | None | gnomAD-4.0.0 | 1.59094E-06 | |
35201 | 73 | V/A | 156 | None | 0.0854 | None | gnomAD-4.0.0 | 6.84141E-07 | |
35201 | 73 | V/E | 156 | rs1411169716 | 0.0854 | None | gnomAD-2.1.1 | 3.19E-05 | |
35201 | 73 | V/E | 156 | rs1411169716 | 0.0854 | None | gnomAD-3.1.2 | 6.58E-06 | |
35201 | 73 | V/E | 156 | rs1411169716 | 0.0854 | None | gnomAD-4.0.0 | 1.23942E-06 | |
35201 | 73 | V/M | 156 | rs397517797 | 0.0854 | None | gnomAD-2.1.1 | 6.42E-05 | |
35201 | 73 | V/M | 156 | rs397517797 | 0.0854 | None | gnomAD-3.1.2 | 6.57E-06 | |
35201 | 73 | V/M | 156 | rs397517797 | 0.0854 | None | gnomAD-4.0.0 | 2.10683E-05 | |
35202 | 74 | V/M | 157 | None | 0.1680 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35203 | 75 | V/A | 158 | rs771136390 | 0.0954 | None | gnomAD-2.1.1 | 4.28E-05 | |
35203 | 75 | V/A | 158 | rs771136390 | 0.0954 | None | gnomAD-3.1.2 | 4.61E-05 | |
35203 | 75 | V/A | 158 | rs771136390 | 0.0954 | None | gnomAD-4.0.0 | 6.50725E-05 | |
35204 | 76 | E/D | 159 | rs1474470920 | 0.3612 | None | gnomAD-2.1.1 | 4.01E-06 | |
35204 | 76 | E/D | 159 | rs1474470920 | 0.3612 | None | gnomAD-4.0.0 | 1.59088E-06 | |
35204 | 76 | E/Q | 159 | None | 0.3612 | None | gnomAD-4.0.0 | 1.59092E-06 | |
35208 | 80 | G/R | 164 | rs1688870986 | 0.2861 | None | gnomAD-4.0.0 | 1.59093E-06 | |
35209 | 81 | K/Q | 165 | rs56365812 | 0.5045 | None | gnomAD-2.1.1 | 1.2E-05 | |
35209 | 81 | K/Q | 165 | rs56365812 | 0.5045 | None | gnomAD-3.1.2 | 1.97E-05 | |
35209 | 81 | K/Q | 165 | rs56365812 | 0.5045 | None | 1000 genomes | 1.99681E-04 | |
35209 | 81 | K/Q | 165 | rs56365812 | 0.5045 | None | gnomAD-4.0.0 | 4.95663E-06 | |
35210 | 82 | Q/H | 166 | rs397517798 | 0.3084 | None | gnomAD-4.0.0 | 1.59087E-06 | |
35210 | 82 | Q/K | 166 | None | 0.3084 | None | gnomAD-4.0.0 | 4.10483E-06 | |
35212 | 84 | A/T | 169 | rs1462254442 | 0.1615 | None | gnomAD-3.1.2 | 6.57E-06 | |
35212 | 84 | A/T | 169 | rs1462254442 | 0.1615 | None | gnomAD-4.0.0 | 5.57681E-06 | |
35213 | 85 | E/A | 171 | rs748652325 | 0.8321 | None | gnomAD-2.1.1 | 8.03E-06 | |
35213 | 85 | E/A | 171 | rs748652325 | 0.8321 | None | gnomAD-4.0.0 | 4.10482E-06 | |
35213 | 85 | E/K | 171 | None | 0.8321 | None | gnomAD-4.0.0 | 3.18176E-06 | |
35214 | 86 | F/L | 172 | rs560557634 | 0.0813 | None | gnomAD-2.1.1 | 2.81E-05 | |
35214 | 86 | F/L | 172 | rs560557634 | 0.0813 | None | gnomAD-3.1.2 | 2.63E-05 | |
35214 | 86 | F/L | 172 | rs560557634 | 0.0813 | None | 1000 genomes | 7.98722E-04 | |
35214 | 86 | F/L | 172 | rs560557634 | 0.0813 | None | gnomAD-4.0.0 | 1.11527E-05 | |
35214 | 86 | F/V | 172 | None | 0.0813 | None | gnomAD-4.0.0 | 1.20032E-06 | |
35215 | 87 | T/A | 173 | None | 0.3454 | None | gnomAD-4.0.0 | 6.84137E-07 | |
35215 | 87 | T/I | 173 | rs1340897756 | 0.3454 | None | gnomAD-2.1.1 | 4.02E-06 | |
35215 | 87 | T/I | 173 | rs1340897756 | 0.3454 | None | gnomAD-3.1.2 | 6.57E-06 | |
35215 | 87 | T/I | 173 | rs1340897756 | 0.3454 | None | gnomAD-4.0.0 | 3.09811E-06 | |
35215 | 87 | T/P | 173 | rs769195414 | 0.3454 | None | gnomAD-2.1.1 | 1.61E-05 | |
35215 | 87 | T/P | 173 | rs769195414 | 0.3454 | None | gnomAD-3.1.2 | 6.57E-06 | |
35215 | 87 | T/P | 173 | rs769195414 | 0.3454 | None | gnomAD-4.0.0 | 5.57683E-06 | |
35216 | 88 | L/M | 174 | None | 0.1143 | None | gnomAD-4.0.0 | 1.59089E-06 | |
35216 | 88 | L/P | 174 | rs1575223863 | 0.1143 | None | gnomAD-4.0.0 | 2.73655E-06 | |
35216 | 88 | L/Q | 174 | None | 0.1143 | None | gnomAD-4.0.0 | 6.84139E-07 | |
35218 | 90 | I/L | 178 | None | 0.1729 | None | gnomAD-4.0.0 | 1.59088E-06 | |
35218 | 90 | I/T | 178 | rs143499441 | 0.1729 | None | gnomAD-2.1.1 | 2.16939E-04 | |
35218 | 90 | I/T | 178 | rs143499441 | 0.1729 | None | gnomAD-3.1.2 | 7.23E-05 | |
35218 | 90 | I/T | 178 | rs143499441 | 0.1729 | None | 1000 genomes | 3.99361E-04 | |
35218 | 90 | I/T | 178 | rs143499441 | 0.1729 | None | gnomAD-4.0.0 | 1.75975E-04 |