10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
P | Y | F | V | K | Q | L | E | P | V | K | V | S | V | G | D | S | A | S | L | Q | C | Q | L | A | G | T | P | E | I | G | V | S | W | Y | K | G | D | T | K | L | R | P | T | T | T | Y | K | M | H | F | R | N | N | V | A | T | L | V | F | N | Q | V | D | I | N | D | S | G | E | Y | I | C | K | A | E | N | S | V | G | E | V | S | A | S | T | F | L | T | V |
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
9205 | 1 | P/L | 1 | rs758238716 | 0.1929 | None | gnomAD-3.1.2 | 6.58E-06 | |
9205 | 1 | P/L | 1 | rs758238716 | 0.1929 | None | gnomAD-4.0.0 | 2.4805E-06 | |
9205 | 1 | P/S | 1 | rs1216622524 | 0.1929 | None | gnomAD-3.1.2 | 6.58E-06 | |
9205 | 1 | P/S | 1 | rs1216622524 | 0.1929 | None | gnomAD-4.0.0 | 1.24025E-06 | |
9205 | 1 | P/T | 1 | rs1216622524 | 0.1929 | None | gnomAD-4.0.0 | 6.84692E-07 | |
9206 | 2 | Y/C | 2 | None | 0.4552 | None | gnomAD-4.0.0 | 1.36922E-06 | |
9207 | 3 | F/V | 3 | rs765453217 | 0.1691 | None | gnomAD-2.1.1 | 1.79E-05 | |
9207 | 3 | F/V | 3 | rs765453217 | 0.1691 | None | gnomAD-3.1.2 | 1.31E-05 | |
9207 | 3 | F/V | 3 | rs765453217 | 0.1691 | None | gnomAD-4.0.0 | 1.79798E-05 | |
9208 | 4 | V/A | 4 | rs753893157 | 0.3803 | None | gnomAD-2.1.1 | 2.02E-05 | |
9208 | 4 | V/A | 4 | rs753893157 | 0.3803 | None | gnomAD-4.0.0 | 1.36895E-05 | |
9208 | 4 | V/I | 4 | None | 0.3803 | None | gnomAD-4.0.0 | 6.84525E-07 | |
9208 | 4 | V/L | 4 | rs761956896 | 0.3803 | None | gnomAD-2.1.1 | 8.06E-06 | |
9208 | 4 | V/L | 4 | rs761956896 | 0.3803 | None | gnomAD-4.0.0 | 1.36905E-06 | |
9209 | 5 | K/E | 5 | rs148355969 | 0.3609 | None | gnomAD-2.1.1 | 8.23E-05 | |
9209 | 5 | K/E | 5 | rs148355969 | 0.3609 | None | gnomAD-3.1.2 | 2.10333E-04 | |
9209 | 5 | K/E | 5 | rs148355969 | 0.3609 | None | 1000 genomes | 7.98722E-04 | |
9209 | 5 | K/E | 5 | rs148355969 | 0.3609 | None | gnomAD-4.0.0 | 4.89684E-05 | |
9209 | 5 | K/R | 5 | rs775941896 | 0.3609 | None | gnomAD-2.1.1 | 4.03E-06 | |
9209 | 5 | K/R | 5 | rs775941896 | 0.3609 | None | gnomAD-4.0.0 | 1.59251E-06 | |
9210 | 6 | Q/E | 7 | rs759893948 | 0.4573 | None | gnomAD-2.1.1 | 1.61E-05 | |
9210 | 6 | Q/E | 7 | rs759893948 | 0.4573 | None | gnomAD-3.1.2 | 6.57E-06 | |
9210 | 6 | Q/E | 7 | rs759893948 | 0.4573 | None | gnomAD-4.0.0 | 5.12763E-06 | |
9210 | 6 | Q/H | 7 | None | 0.4573 | None | gnomAD-4.0.0 | 4.79085E-06 | |
9210 | 6 | Q/K | 7 | rs759893948 | 0.4573 | None | gnomAD-2.1.1 | 4.03E-06 | |
9210 | 6 | Q/K | 7 | rs759893948 | 0.4573 | None | gnomAD-3.1.2 | 6.57E-06 | |
9210 | 6 | Q/K | 7 | rs759893948 | 0.4573 | None | gnomAD-4.0.0 | 3.84572E-06 | |
9211 | 7 | L/F | 8 | rs1197586368 | 0.1518 | None | gnomAD-4.0.0 | 1.20034E-06 | |
9212 | 8 | E/K | 9 | rs769421279 | 0.5296 | None | gnomAD-2.1.1 | 7.15E-06 | |
9212 | 8 | E/K | 9 | rs769421279 | 0.5296 | None | gnomAD-3.1.2 | 6.57E-06 | |
9212 | 8 | E/K | 9 | rs769421279 | 0.5296 | None | gnomAD-4.0.0 | 3.84493E-06 | |
9213 | 9 | P/L | 11 | rs747751433 | 0.3205 | None | gnomAD-2.1.1 | 2.15E-05 | |
9213 | 9 | P/L | 11 | rs747751433 | 0.3205 | None | gnomAD-3.1.2 | 1.32E-05 | |
9213 | 9 | P/L | 11 | rs747751433 | 0.3205 | None | gnomAD-4.0.0 | 1.05374E-05 | |
9213 | 9 | P/T | 11 | None | 0.3205 | None | gnomAD-4.0.0 | 6.8436E-07 | |
9214 | 10 | V/I | 13 | rs987421243 | 0.2767 | None | gnomAD-2.1.1 | 3.19E-05 | |
9214 | 10 | V/I | 13 | rs987421243 | 0.2767 | None | gnomAD-3.1.2 | 6.57E-06 | |
9214 | 10 | V/I | 13 | rs987421243 | 0.2767 | None | gnomAD-4.0.0 | 6.57462E-06 | |
9215 | 11 | K/N | 14 | rs768260006 | 0.2846 | None | gnomAD-4.0.0 | 2.05274E-06 | |
9215 | 11 | K/T | 14 | None | 0.2846 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9216 | 12 | V/L | 16 | rs2076754022 | 0.3574 | None | gnomAD-4.0.0 | 1.59154E-06 | |
9218 | 14 | V/A | 23 | None | 1.1008 | None | gnomAD-4.0.0 | 1.59132E-06 | |
9218 | 14 | V/F | 23 | rs746558975 | 1.1008 | None | gnomAD-2.1.1 | 4.43E-05 | |
9218 | 14 | V/F | 23 | rs746558975 | 1.1008 | None | gnomAD-3.1.2 | 5.26E-05 | |
9218 | 14 | V/F | 23 | rs746558975 | 1.1008 | None | gnomAD-4.0.0 | 2.85069E-05 | |
9218 | 14 | V/I | 23 | None | 1.1008 | None | gnomAD-4.0.0 | 6.84227E-07 | |
9219 | 15 | G/R | 24 | None | 0.5226 | None | gnomAD-4.0.0 | 1.59135E-06 | |
9220 | 16 | D/N | 25 | rs758435347 | 0.5017 | None | gnomAD-2.1.1 | 8.05E-06 | |
9220 | 16 | D/N | 25 | rs758435347 | 0.5017 | None | gnomAD-4.0.0 | 4.78952E-06 | |
9220 | 16 | D/V | 25 | None | 0.5017 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9222 | 18 | A/S | 28 | None | 0.2285 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9222 | 18 | A/V | 28 | rs786205313 | 0.2285 | None | gnomAD-2.1.1 | 4.02E-06 | |
9222 | 18 | A/V | 28 | rs786205313 | 0.2285 | None | gnomAD-4.0.0 | 7.95639E-06 | |
9223 | 19 | S/F | 29 | rs778581432 | 0.3560 | None | gnomAD-2.1.1 | 4.02E-06 | |
9223 | 19 | S/F | 29 | rs778581432 | 0.3560 | None | gnomAD-4.0.0 | 6.84208E-06 | |
9223 | 19 | S/P | 29 | rs201253546 | 0.3560 | None | gnomAD-2.1.1 | 8.93E-05 | |
9223 | 19 | S/P | 29 | rs201253546 | 0.3560 | None | gnomAD-3.1.2 | 1.97E-05 | |
9223 | 19 | S/P | 29 | rs201253546 | 0.3560 | None | gnomAD-4.0.0 | 4.2758E-05 | |
9223 | 19 | S/Y | 29 | None | 0.3560 | None | gnomAD-4.0.0 | 6.84208E-07 | |
9224 | 20 | L/P | 30 | None | 0.1878 | None | gnomAD-4.0.0 | 1.59124E-06 | |
9225 | 21 | Q/P | 31 | None | 0.5279 | None | gnomAD-4.0.0 | 1.59124E-06 | |
9225 | 21 | Q/R | 31 | rs2076750199 | 0.5279 | None | gnomAD-4.0.0 | 4.77371E-06 | |
9226 | 22 | C/R | 33 | rs372820178 | 0.0944 | None | gnomAD-2.1.1 | 2.86E-05 | |
9226 | 22 | C/R | 33 | rs372820178 | 0.0944 | None | gnomAD-3.1.2 | 3.29E-05 | |
9226 | 22 | C/R | 33 | rs372820178 | 0.0944 | None | 1000 genomes | 1.99681E-04 | |
9226 | 22 | C/R | 33 | rs372820178 | 0.0944 | None | gnomAD-4.0.0 | 1.23311E-04 | |
9226 | 22 | C/Y | 33 | rs369108107 | 0.0944 | None | gnomAD-2.1.1 | 8.05E-06 | |
9226 | 22 | C/Y | 33 | rs369108107 | 0.0944 | None | gnomAD-3.1.2 | 6.57E-06 | |
9226 | 22 | C/Y | 33 | rs369108107 | 0.0944 | None | gnomAD-4.0.0 | 9.29559E-06 | |
9227 | 23 | Q/H | 34 | rs1214925721 | 0.3436 | None | gnomAD-2.1.1 | 4.02E-06 | |
9227 | 23 | Q/H | 34 | rs1214925721 | 0.3436 | None | gnomAD-4.0.0 | 1.59123E-06 | |
9227 | 23 | Q/P | 34 | rs1262905911 | 0.3436 | None | gnomAD-2.1.1 | 4.02E-06 | |
9227 | 23 | Q/P | 34 | rs1262905911 | 0.3436 | None | gnomAD-4.0.0 | 6.84199E-07 | |
9227 | 23 | Q/R | 34 | rs1262905911 | 0.3436 | None | gnomAD-4.0.0 | 1.23156E-05 | |
9228 | 24 | L/P | 35 | rs756143599 | 0.1252 | None | gnomAD-2.1.1 | 8.05E-06 | |
9228 | 24 | L/P | 35 | rs756143599 | 0.1252 | None | gnomAD-3.1.2 | 6.57E-06 | |
9228 | 24 | L/P | 35 | rs756143599 | 0.1252 | None | gnomAD-4.0.0 | 7.68628E-06 | |
9229 | 25 | A/S | 38 | None | 0.1840 | None | gnomAD-4.0.0 | 7.20193E-06 | |
9230 | 26 | G/E | 40 | None | 0.3351 | None | gnomAD-4.0.0 | 1.59123E-06 | |
9232 | 28 | P/L | 42 | rs1354298331 | 0.5166 | None | gnomAD-2.1.1 | 8.05E-06 | |
9232 | 28 | P/L | 42 | rs1354298331 | 0.5166 | None | gnomAD-4.0.0 | 1.59123E-06 | |
9232 | 28 | P/S | 42 | rs1228009511 | 0.5166 | None | gnomAD-2.1.1 | 4.02E-06 | |
9232 | 28 | P/S | 42 | rs1228009511 | 0.5166 | None | gnomAD-4.0.0 | 1.59122E-06 | |
9233 | 29 | E/A | 43 | None | 0.9869 | None | gnomAD-4.0.0 | 4.77374E-06 | |
9235 | 31 | G/V | 45 | None | 0.2740 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9236 | 32 | V/A | 46 | rs1034794926 | 0.3179 | None | gnomAD-4.0.0 | 2.73685E-06 | |
9236 | 32 | V/I | 46 | rs774989128 | 0.3179 | None | gnomAD-2.1.1 | 8.05E-06 | |
9236 | 32 | V/I | 46 | rs774989128 | 0.3179 | None | gnomAD-4.0.0 | 6.84216E-06 | |
9237 | 33 | S/A | 47 | rs766638714 | 0.2438 | None | gnomAD-2.1.1 | 1.21408E-04 | |
9237 | 33 | S/A | 47 | rs766638714 | 0.2438 | None | gnomAD-3.1.2 | 5.92E-05 | |
9237 | 33 | S/A | 47 | rs766638714 | 0.2438 | None | gnomAD-4.0.0 | 2.4788E-05 | |
9237 | 33 | S/F | 47 | rs1297278620 | 0.2438 | None | gnomAD-2.1.1 | 4.02E-06 | |
9237 | 33 | S/F | 47 | rs1297278620 | 0.2438 | None | gnomAD-4.0.0 | 2.05262E-06 | |
9237 | 33 | S/Y | 47 | rs1297278620 | 0.2438 | None | gnomAD-2.1.1 | 4.02E-06 | |
9237 | 33 | S/Y | 47 | rs1297278620 | 0.2438 | None | gnomAD-4.0.0 | 2.05262E-06 | |
9239 | 35 | Y/C | 49 | rs559945666 | 0.2118 | None | gnomAD-3.1.2 | 6.57E-06 | |
9239 | 35 | Y/C | 49 | rs559945666 | 0.2118 | None | gnomAD-4.0.0 | 2.56219E-06 | |
9239 | 35 | Y/H | 49 | rs373068293 | 0.2118 | None | gnomAD-2.1.1 | 4.28E-05 | |
9239 | 35 | Y/H | 49 | rs373068293 | 0.2118 | None | gnomAD-3.1.2 | 1.18343E-04 | |
9239 | 35 | Y/H | 49 | rs373068293 | 0.2118 | None | gnomAD-4.0.0 | 2.97443E-05 | |
9241 | 37 | G/E | 51 | rs2154295843 | 0.2931 | None | gnomAD-3.1.2 | 6.58E-06 | |
9241 | 37 | G/E | 51 | rs2154295843 | 0.2931 | None | gnomAD-4.0.0 | 6.57056E-06 | |
9241 | 37 | G/V | 51 | None | 0.2931 | None | gnomAD-4.0.0 | 1.59129E-06 | |
9242 | 38 | D/Y | 52 | rs746470885 | 1.0751 | None | gnomAD-2.1.1 | 1.21E-05 | |
9242 | 38 | D/Y | 52 | rs746470885 | 1.0751 | None | gnomAD-3.1.2 | 1.97E-05 | |
9242 | 38 | D/Y | 52 | rs746470885 | 1.0751 | None | gnomAD-4.0.0 | 5.08171E-05 | |
9243 | 39 | T/P | 55 | None | 0.6006 | None | gnomAD-4.0.0 | 6.84215E-07 | |
9243 | 39 | T/S | 55 | None | 0.6006 | None | gnomAD-4.0.0 | 6.84215E-07 | |
9246 | 42 | R/I | 59 | rs1404441295 | 0.8429 | None | gnomAD-3.1.2 | 6.57E-06 | |
9246 | 42 | R/I | 59 | rs1404441295 | 0.8429 | None | gnomAD-4.0.0 | 3.84354E-06 | |
9246 | 42 | R/K | 59 | rs1404441295 | 0.8429 | None | gnomAD-2.1.1 | 4.02E-06 | |
9246 | 42 | R/K | 59 | rs1404441295 | 0.8429 | None | gnomAD-3.1.2 | 6.57E-06 | |
9246 | 42 | R/K | 59 | rs1404441295 | 0.8429 | None | gnomAD-4.0.0 | 2.56236E-06 | |
9246 | 42 | R/S | 59 | None | 0.8429 | None | gnomAD-4.0.0 | 1.59125E-06 | |
9247 | 43 | P/L | 70 | rs775155957 | 0.5830 | None | gnomAD-2.1.1 | 4.02E-06 | |
9247 | 43 | P/L | 70 | rs775155957 | 0.5830 | None | gnomAD-4.0.0 | 3.18257E-06 | |
9247 | 43 | P/S | 70 | rs1475796244 | 0.5830 | None | gnomAD-2.1.1 | 3.18E-05 | |
9247 | 43 | P/S | 70 | rs1475796244 | 0.5830 | None | gnomAD-3.1.2 | 6.57E-06 | |
9247 | 43 | P/S | 70 | rs1475796244 | 0.5830 | None | gnomAD-4.0.0 | 6.57428E-06 | |
9248 | 44 | T/I | 73 | rs397517523 | 0.2475 | None | gnomAD-2.1.1 | 4.02E-06 | |
9248 | 44 | T/I | 73 | rs397517523 | 0.2475 | None | gnomAD-4.0.0 | 6.84213E-07 | |
9248 | 44 | T/N | 73 | rs397517523 | 0.2475 | None | gnomAD-3.1.2 | 1.31E-05 | |
9248 | 44 | T/N | 73 | rs397517523 | 0.2475 | None | gnomAD-4.0.0 | 6.81618E-06 | |
9249 | 45 | T/A | 102 | rs1426023267 | 0.9254 | None | gnomAD-2.1.1 | 3.18E-05 | |
9249 | 45 | T/A | 102 | rs1426023267 | 0.9254 | None | gnomAD-3.1.2 | 6.57E-06 | |
9249 | 45 | T/A | 102 | rs1426023267 | 0.9254 | None | gnomAD-4.0.0 | 3.09848E-06 | |
9249 | 45 | T/M | 102 | rs745792278 | 0.9254 | None | gnomAD-2.1.1 | 2.5E-05 | |
9249 | 45 | T/M | 102 | rs745792278 | 0.9254 | None | gnomAD-3.1.2 | 1.31E-05 | |
9249 | 45 | T/M | 102 | rs745792278 | 0.9254 | None | gnomAD-4.0.0 | 1.54931E-05 | |
9251 | 47 | Y/C | 121 | rs2076738638 | 0.2722 | None | gnomAD-3.1.2 | 1.31E-05 | |
9251 | 47 | Y/C | 121 | rs2076738638 | 0.2722 | None | gnomAD-4.0.0 | 3.0447E-06 | |
9253 | 49 | M/I | 123 | rs1477695783 | 0.2346 | None | gnomAD-2.1.1 | 3.18E-05 | |
9253 | 49 | M/I | 123 | rs1477695783 | 0.2346 | None | gnomAD-3.1.2 | 6.57E-06 | |
9253 | 49 | M/I | 123 | rs1477695783 | 0.2346 | None | gnomAD-4.0.0 | 2.03E-06 | |
9253 | 49 | M/T | 123 | None | 0.2346 | None | gnomAD-4.0.0 | 1.59128E-06 | |
9254 | 50 | H/N | 125 | rs1191894899 | 0.5604 | None | gnomAD-2.1.1 | 4.02E-06 | |
9254 | 50 | H/N | 125 | rs1191894899 | 0.5604 | None | gnomAD-4.0.0 | 3.18256E-06 | |
9255 | 51 | F/V | 127 | rs2076737035 | 0.3397 | None | gnomAD-4.0.0 | 2.05263E-06 | |
9256 | 52 | R/S | 130 | None | 0.7956 | None | gnomAD-4.0.0 | 1.59129E-06 | |
9257 | 53 | N/S | 131 | rs1448296665 | 0.9250 | None | gnomAD-4.0.0 | 2.73685E-06 | |
9258 | 54 | N/K | 134 | rs749135942 | 0.4815 | None | gnomAD-2.1.1 | 1.2E-05 | |
9258 | 54 | N/K | 134 | rs749135942 | 0.4815 | None | gnomAD-4.0.0 | 2.73685E-06 | |
9258 | 54 | N/T | 134 | None | 0.4815 | None | gnomAD-4.0.0 | 1.36843E-06 | |
9259 | 55 | V/I | 135 | rs2076736013 | 0.2729 | None | gnomAD-4.0.0 | 6.36511E-06 | |
9260 | 56 | A/S | 136 | rs777920428 | 0.0912 | None | gnomAD-2.1.1 | 4.02E-06 | |
9260 | 56 | A/S | 136 | rs777920428 | 0.0912 | None | gnomAD-4.0.0 | 6.36529E-06 | |
9260 | 56 | A/T | 136 | rs777920428 | 0.0912 | None | gnomAD-2.1.1 | 4.02E-06 | |
9260 | 56 | A/V | 136 | None | 0.0912 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9261 | 57 | T/A | 137 | None | 0.2233 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9262 | 58 | L/V | 138 | rs897313799 | 0.0787 | None | gnomAD-3.1.2 | 6.57E-06 | |
9262 | 58 | L/V | 138 | rs897313799 | 0.0787 | None | gnomAD-4.0.0 | 6.57125E-06 | |
9263 | 59 | V/A | 139 | None | 0.3144 | None | gnomAD-4.0.0 | 1.59131E-06 | |
9264 | 60 | F/C | 140 | None | 0.1743 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9265 | 61 | N/H | 141 | rs397517524 | 0.6453 | None | gnomAD-2.1.1 | 3.57E-05 | |
9265 | 61 | N/H | 141 | rs397517524 | 0.6453 | None | gnomAD-3.1.2 | 7.23E-05 | |
9265 | 61 | N/H | 141 | rs397517524 | 0.6453 | None | gnomAD-4.0.0 | 3.16042E-05 | |
9265 | 61 | N/S | 141 | rs752705285 | 0.6453 | None | gnomAD-2.1.1 | 8.03E-06 | |
9265 | 61 | N/S | 141 | rs752705285 | 0.6453 | None | gnomAD-4.0.0 | 8.89489E-06 | |
9266 | 62 | Q/H | 143 | rs543197876 | 0.8467 | None | gnomAD-4.0.0 | 4.78964E-06 | |
9266 | 62 | Q/L | 143 | None | 0.8467 | None | gnomAD-4.0.0 | 1.59135E-06 | |
9267 | 63 | V/A | 144 | rs755143548 | 0.3356 | None | gnomAD-2.1.1 | 8.03E-06 | |
9267 | 63 | V/A | 144 | rs755143548 | 0.3356 | None | gnomAD-3.1.2 | 6.57E-06 | |
9267 | 63 | V/A | 144 | rs755143548 | 0.3356 | None | gnomAD-4.0.0 | 1.48724E-05 | |
9267 | 63 | V/G | 144 | None | 0.3356 | None | gnomAD-4.0.0 | 6.8422E-07 | |
9267 | 63 | V/I | 144 | rs1476692496 | 0.3356 | None | gnomAD-3.1.2 | 6.57E-06 | |
9267 | 63 | V/I | 144 | rs1476692496 | 0.3356 | None | gnomAD-4.0.0 | 6.57186E-06 | |
9268 | 64 | D/N | 145 | rs751988610 | 0.3967 | None | gnomAD-2.1.1 | 4.02E-06 | |
9268 | 64 | D/N | 145 | rs751988610 | 0.3967 | None | gnomAD-4.0.0 | 1.59139E-06 | |
9269 | 65 | I/T | 146 | rs2076732210 | 0.9157 | None | gnomAD-3.1.2 | 6.57E-06 | |
9269 | 65 | I/T | 146 | rs2076732210 | 0.9157 | None | gnomAD-4.0.0 | 6.56953E-06 | |
9269 | 65 | I/V | 146 | rs766951571 | 0.9157 | None | gnomAD-2.1.1 | 1.43E-05 | |
9269 | 65 | I/V | 146 | rs766951571 | 0.9157 | None | gnomAD-3.1.2 | 6.57E-06 | |
9269 | 65 | I/V | 146 | rs766951571 | 0.9157 | None | gnomAD-4.0.0 | 1.53726E-05 | |
9270 | 66 | N/S | 148 | rs763189626 | 0.6856 | None | gnomAD-2.1.1 | 1.61E-05 | |
9270 | 66 | N/S | 148 | rs763189626 | 0.6856 | None | gnomAD-3.1.2 | 1.31E-05 | |
9270 | 66 | N/S | 148 | rs763189626 | 0.6856 | None | gnomAD-4.0.0 | 4.08994E-05 | |
9271 | 67 | D/N | 149 | None | 0.2638 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9272 | 68 | S/R | 151 | None | 0.6084 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9272 | 68 | S/T | 151 | rs763783812 | 0.6084 | None | gnomAD-2.1.1 | 2.81E-05 | |
9272 | 68 | S/T | 151 | rs763783812 | 0.6084 | None | gnomAD-4.0.0 | 1.43693E-05 | |
9273 | 69 | G/E | 152 | None | 0.3088 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9273 | 69 | G/R | 152 | None | 0.3088 | None | gnomAD-4.0.0 | 1.59157E-06 | |
9275 | 71 | Y/C | 154 | rs72648996 | 0.1427 | None | gnomAD-2.1.1 | 6.43E-05 | |
9275 | 71 | Y/C | 154 | rs72648996 | 0.1427 | None | gnomAD-3.1.2 | 4.6E-05 | |
9275 | 71 | Y/C | 154 | rs72648996 | 0.1427 |
ARVC |
Literature | None | |
9275 | 71 | Y/C | 154 | rs72648996 | 0.1427 | None | gnomAD-4.0.0 | 4.95845E-05 | |
9275 | 71 | Y/S | 154 | None | 0.1427 | None | gnomAD-4.0.0 | 1.36873E-06 | |
9276 | 72 | I/L | 155 | rs1289827097 | 0.2269 | None | gnomAD-3.1.2 | 6.57E-06 | |
9276 | 72 | I/L | 155 | rs1289827097 | 0.2269 | None | gnomAD-4.0.0 | 6.56935E-06 | |
9276 | 72 | I/T | 155 | None | 0.2269 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9276 | 72 | I/V | 155 | rs1289827097 | 0.2269 | None | gnomAD-4.0.0 | 1.36871E-06 | |
9277 | 73 | C/S | 156 | None | 0.0857 | None | gnomAD-4.0.0 | 7.20193E-06 | |
9278 | 74 | K/I | 157 | None | 0.2733 | None | gnomAD-4.0.0 | 1.20032E-06 | |
9279 | 75 | A/T | 158 | None | 0.1048 | None | gnomAD-4.0.0 | 1.36967E-06 | |
9280 | 76 | E/G | 159 | None | 0.5007 | None | gnomAD-4.0.0 | 1.59669E-06 | |
9282 | 78 | S/R | 162 | rs771474147 | 0.6544 | None | gnomAD-2.1.1 | 1.62E-05 | |
9282 | 78 | S/R | 162 | rs771474147 | 0.6544 | None | gnomAD-3.1.2 | 1.31E-05 | |
9282 | 78 | S/R | 162 | rs771474147 | 0.6544 | None | gnomAD-4.0.0 | 7.72758E-06 | |
9283 | 79 | V/M | 163 | rs727504515 | 0.8346 | None | gnomAD-2.1.1 | 1.66155E-04 | |
9283 | 79 | V/M | 163 | rs727504515 | 0.8346 | None | gnomAD-3.1.2 | 6.57E-05 | |
9283 | 79 | V/M | 163 | rs727504515 | 0.8346 | None | gnomAD-4.0.0 | 8.32842E-05 | |
9284 | 80 | G/E | 164 | rs770920718 | 0.2936 | None | gnomAD-2.1.1 | 4.06E-06 | |
9284 | 80 | G/E | 164 | rs770920718 | 0.2936 | None | gnomAD-3.1.2 | 6.57E-06 | |
9284 | 80 | G/R | 164 | rs2076727185 | 0.2936 | None | gnomAD-3.1.2 | 6.57E-06 | |
9284 | 80 | G/R | 164 | rs2076727185 | 0.2936 | None | gnomAD-4.0.0 | 2.02986E-06 | |
9284 | 80 | G/V | 164 | rs770920718 | 0.2936 | None | gnomAD-2.1.1 | 4.06E-06 | |
9284 | 80 | G/V | 164 | rs770920718 | 0.2936 | None | gnomAD-4.0.0 | 4.81369E-06 | |
9285 | 81 | E/A | 165 | rs1560573999 | 0.6664 | None | gnomAD-2.1.1 | 3.18E-05 | |
9285 | 81 | E/A | 165 | rs1560573999 | 0.6664 | None | gnomAD-3.1.2 | 6.57E-06 | |
9285 | 81 | E/A | 165 | rs1560573999 | 0.6664 | None | gnomAD-4.0.0 | 6.5722E-06 | |
9285 | 81 | E/K | 165 | None | 0.6664 | None | gnomAD-4.0.0 | 1.60823E-06 | |
9286 | 82 | V/A | 166 | rs769642697 | 0.2178 | None | gnomAD-2.1.1 | 4.09E-06 | |
9286 | 82 | V/A | 166 | rs769642697 | 0.2178 | None | gnomAD-4.0.0 | 2.06466E-06 | |
9286 | 82 | V/D | 166 | rs769642697 | 0.2178 | None | gnomAD-4.0.0 | 1.37644E-06 | |
9286 | 82 | V/F | 166 | rs777547707 | 0.2178 | None | gnomAD-2.1.1 | 2.45E-05 | |
9286 | 82 | V/F | 166 | rs777547707 | 0.2178 | None | gnomAD-3.1.2 | 3.29E-05 | |
9286 | 82 | V/F | 166 | rs777547707 | 0.2178 | None | gnomAD-4.0.0 | 7.72553E-05 | |
9286 | 82 | V/I | 166 | None | 0.2178 | None | gnomAD-4.0.0 | 6.88289E-07 | |
9286 | 82 | V/L | 166 | rs777547707 | 0.2178 | None | gnomAD-4.0.0 | 6.88289E-07 | |
9288 | 84 | A/P | 169 | None | 0.1810 | None | gnomAD-4.0.0 | 1.61923E-06 | |
9289 | 85 | S/P | 171 | rs2076724301 | 0.3497 | None | gnomAD-4.0.0 | 8.09961E-06 | |
9290 | 86 | T/A | 172 | rs1256283190 | 0.1408 | None | gnomAD-4.0.0 | 1.62297E-06 | |
9290 | 86 | T/S | 172 | rs1196673354 | 0.1408 | None | gnomAD-2.1.1 | 4.14E-06 | |
9290 | 86 | T/S | 172 | rs1196673354 | 0.1408 | None | gnomAD-4.0.0 | 1.62302E-06 | |
9291 | 87 | F/S | 173 | rs754982924 | 0.5056 | None | gnomAD-2.1.1 | 1.25E-05 | |
9291 | 87 | F/S | 173 | rs754982924 | 0.5056 | None | gnomAD-3.1.2 | 6.57E-06 | |
9291 | 87 | F/S | 173 | rs754982924 | 0.5056 | None | gnomAD-4.0.0 | 1.04382E-05 | |
9292 | 88 | L/F | 174 | None | 0.4911 | None | gnomAD-4.0.0 | 1.62989E-06 | |
9293 | 89 | T/I | 175 | None | 0.5360 | None | gnomAD-4.0.0 | 6.92585E-07 | |
9293 | 89 | T/N | 175 | rs2076722601 | 0.5360 | None | gnomAD-3.1.2 | 6.57E-06 | |
9293 | 89 | T/N | 175 | rs2076722601 | 0.5360 | None | gnomAD-4.0.0 | 6.57056E-06 | |
9293 | 89 | T/S | 175 | None | 0.5360 | None | gnomAD-4.0.0 | 6.92584E-07 | |
9294 | 90 | V/F | 177 | None | 0.9741 | None | gnomAD-4.0.0 | 2.08206E-06 | |
9294 | 90 | V/I | 177 | rs368775401 | 0.9741 | None | gnomAD-2.1.1 | 8.49E-06 | |
9294 | 90 | V/I | 177 | rs368775401 | 0.9741 | None | gnomAD-4.0.0 | 6.24617E-06 |