Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.149482940_149483166del | CA2695236488 | IDS | c.1234_1460del (p.Gly412HisfsTer11) c.601_827del (p.Gly201HisfsTer11) c.964_1190del (p.Gly322HisfsTer11) | |
X | g.149482949_149483122del | CA2580101611 | IDS | c.1277_1450del (p.Ser426_Asp484delinsTyr) c.644_817del (p.Ser215_Asp273delinsTyr) c.1007_1180del (p.Ser336_Asp394delinsTyr) | ClinVar |
X | g.149483062_149483084del | CA2511282242 | IDS | c.1317_1339del (p.Lys440GlyfsTer9) c.684_706del (p.Lys229GlyfsTer9) c.1047_1069del (p.Lys350GlyfsTer9) | |
X | g.149483070T>A | CA519173980 | IDS | c.1329A>T (p.Arg443=) c.696A>T (p.Arg232=) c.1059A>T (p.Arg353=) | |
X | g.149483070T>C | CA519173981 | IDS | c.1329A>G (p.Arg443=) c.696A>G (p.Arg232=) c.1059A>G (p.Arg353=) | |
X | g.149483070T>G | CA519173982 | IDS | c.1329A>C (p.Arg443=) c.696A>C (p.Arg232=) c.1059A>C (p.Arg353=) | |
X | g.149483071C>A | CA414518324 | IDS | c.1328G>T (p.Arg443Leu) c.695G>T (p.Arg232Leu) c.1058G>T (p.Arg353Leu) | dbSNP |
X | g.149483071C= | CA2465004040 | IDS | c.1328G= (p.Arg443=) c.695G= (p.Arg232=) c.1058G= (p.Arg353=) | |
X | g.149483071C>G | CA414518323 | IDS | c.1328G>C (p.Arg443Pro) c.695G>C (p.Arg232Pro) c.1058G>C (p.Arg353Pro) | |
X | g.149483071C>T | CA337035532 | IDS | c.1328G>A (p.Arg443Gln) c.695G>A (p.Arg232Gln) c.1058G>A (p.Arg353Gln) | dbSNP gnomAD v4 |
X | g.149483072G>A | CA340985 | IDS | c.1327C>T (p.Arg443Ter) c.694C>T (p.Arg232Ter) c.1057C>T (p.Arg353Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.149483072G>C | CA414518325 | IDS | c.1327C>G (p.Arg443Gly) c.694C>G (p.Arg232Gly) c.1057C>G (p.Arg353Gly) | ClinVar |
X | g.149483072G= | CA2465004041 | IDS | c.1327C= (p.Arg443=) c.694C= (p.Arg232=) c.1057C= (p.Arg353=) | |
X | g.149483072G>T | CA10537462 | IDS | c.1327C>A (p.Arg443=) c.694C>A (p.Arg232=) c.1057C>A (p.Arg353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483073A>C | CA414518326 | IDS | c.1326T>G (p.Phe442Leu) c.693T>G (p.Phe231Leu) c.1056T>G (p.Phe352Leu) | dbSNP |
X | g.149483073A>G | CA519173984 | IDS | c.1326T>C (p.Phe442=) c.693T>C (p.Phe231=) c.1056T>C (p.Phe352=) | |
X | g.149483073A>T | CA414518327 | IDS | c.1326T>A (p.Phe442Leu) c.693T>A (p.Phe231Leu) c.1056T>A (p.Phe352Leu) | |
X | g.149483076dup | CA2695236513 | IDS | c.1326dup (p.Arg443SerfsTer4) c.693dup (p.Arg232SerfsTer4) c.1056dup (p.Arg353SerfsTer4) | |
X | g.149483074A>C | CA414518328 | IDS | c.1325T>G (p.Phe442Cys) c.692T>G (p.Phe231Cys) c.1055T>G (p.Phe352Cys) | |
X | g.149483074A>G | CA414518330 | IDS | c.1325T>C (p.Phe442Ser) c.692T>C (p.Phe231Ser) c.1055T>C (p.Phe352Ser) | |
X | g.149483074A>T | CA414518331 | IDS | c.1325T>A (p.Phe442Tyr) c.692T>A (p.Phe231Tyr) c.1055T>A (p.Phe352Tyr) | |
X | g.149483075A>C | CA414518333 | IDS | c.1324T>G (p.Phe442Val) c.691T>G (p.Phe231Val) c.1054T>G (p.Phe352Val) | |
X | g.149483075A>G | CA414518334 | IDS | c.1324T>C (p.Phe442Leu) c.691T>C (p.Phe231Leu) c.1054T>C (p.Phe352Leu) | |
X | g.149483075A>T | CA414518335 | IDS | c.1324T>A (p.Phe442Ile) c.691T>A (p.Phe231Ile) c.1054T>A (p.Phe352Ile) | |
X | g.149483076A>C | CA414518336 | IDS | c.1323T>G (p.His441Gln) c.690T>G (p.His230Gln) c.1053T>G (p.His351Gln) | |
X | g.149483076A>G | CA519173985 | IDS | c.1323T>C (p.His441=) c.690T>C (p.His230=) c.1053T>C (p.His351=) | |
X | g.149483076A>T | CA414518337 | IDS | c.1323T>A (p.His441Gln) c.690T>A (p.His230Gln) c.1053T>A (p.His351Gln) | |
X | g.149483077T>A | CA414518338 | IDS | c.1322A>T (p.His441Leu) c.689A>T (p.His230Leu) c.1052A>T (p.His351Leu) | |
X | g.149483077T>C | CA414518340 | IDS | c.1322A>G (p.His441Arg) c.689A>G (p.His230Arg) c.1052A>G (p.His351Arg) | |
X | g.149483077T>G | CA414518339 | IDS | c.1322A>C (p.His441Pro) c.689A>C (p.His230Pro) c.1052A>C (p.His351Pro) | |
X | g.149483078G>A | CA414518341 | IDS | c.1321C>T (p.His441Tyr) c.688C>T (p.His230Tyr) c.1051C>T (p.His351Tyr) | |
X | g.149483078G>C | CA414518342 | IDS | c.1321C>G (p.His441Asp) c.688C>G (p.His230Asp) c.1051C>G (p.His351Asp) | |
X | g.149483078G>T | CA414518343 | IDS | c.1321C>A (p.His441Asn) c.688C>A (p.His230Asn) c.1051C>A (p.His351Asn) | |
X | g.149483079C>A | CA414518344 | IDS | c.1320G>T (p.Lys440Asn) c.687G>T (p.Lys229Asn) c.1050G>T (p.Lys350Asn) | |
X | g.149483079C>G | CA414518345 | IDS | c.1320G>C (p.Lys440Asn) c.687G>C (p.Lys229Asn) c.1050G>C (p.Lys350Asn) | |
X | g.149483079C>T | CA519173986 | IDS | c.1320G>A (p.Lys440=) c.687G>A (p.Lys229=) c.1050G>A (p.Lys350=) | gnomAD v4 |
X | g.149483080T>A | CA414518346 | IDS | c.1319A>T (p.Lys440Met) c.686A>T (p.Lys229Met) c.1049A>T (p.Lys350Met) | |
X | g.149483080T>C | CA414518347 | IDS | c.1319A>G (p.Lys440Arg) c.686A>G (p.Lys229Arg) c.1049A>G (p.Lys350Arg) | |
X | g.149483080T>G | CA414518348 | IDS | c.1319A>C (p.Lys440Thr) c.686A>C (p.Lys229Thr) c.1049A>C (p.Lys350Thr) | |
X | g.149483081dup | CA2695236515 | IDS | c.1319dup (p.His441AlafsTer6) c.686dup (p.His230AlafsTer6) c.1049dup (p.His351AlafsTer6) | |
X | g.149483081T>A | CA414518349 | IDS | c.1318A>T (p.Lys440Ter) c.685A>T (p.Lys229Ter) c.1048A>T (p.Lys350Ter) | |
X | g.149483081T>C | CA414518350 | IDS | c.1318A>G (p.Lys440Glu) c.685A>G (p.Lys229Glu) c.1048A>G (p.Lys350Glu) | |
X | g.149483081T>G | CA414518351 | IDS | c.1318A>C (p.Lys440Gln) c.685A>C (p.Lys229Gln) c.1048A>C (p.Lys350Gln) | |
X | g.149483082del | CA2579719105 | IDS | c.1317del (p.Lys440SerfsTer21) c.684del (p.Lys229SerfsTer21) c.1047del (p.Lys350SerfsTer21) | |
X | g.149483082C>A | CA519173988 | IDS | c.1317G>T (p.Leu439=) c.684G>T (p.Leu228=) c.1047G>T (p.Leu349=) | ClinVar |
X | g.149483082C>G | CA519173989 | IDS | c.1317G>C (p.Leu439=) c.684G>C (p.Leu228=) c.1047G>C (p.Leu349=) | |
X | g.149483082C>T | CA519173991 | IDS | c.1317G>A (p.Leu439=) c.684G>A (p.Leu228=) c.1047G>A (p.Leu349=) | |
X | g.149483083del | CA2499226411 | IDS | c.1316del (p.Leu439ArgfsTer22) c.683del (p.Leu228ArgfsTer22) c.1046del (p.Leu349ArgfsTer22) | ClinVar dbSNP |
X | g.149483083A>C | CA414518352 | IDS | c.1316T>G (p.Leu439Arg) c.683T>G (p.Leu228Arg) c.1046T>G (p.Leu349Arg) | |
X | g.149483083A>G | CA414518353 | IDS | c.1316T>C (p.Leu439Pro) c.683T>C (p.Leu228Pro) c.1046T>C (p.Leu349Pro) | |
X | g.149483083A>T | CA414518354 | IDS | c.1316T>A (p.Leu439Gln) c.683T>A (p.Leu228Gln) c.1046T>A (p.Leu349Gln) | |
X | g.149483084G>A | CA519173992 | IDS | c.1315C>T (p.Leu439=) c.682C>T (p.Leu228=) c.1045C>T (p.Leu349=) | |
X | g.149483084G>C | CA414518355 | IDS | c.1315C>G (p.Leu439Val) c.682C>G (p.Leu228Val) c.1045C>G (p.Leu349Val) | gnomAD v4 |
X | g.149483084G>T | CA414518356 | IDS | c.1315C>A (p.Leu439Met) c.682C>A (p.Leu228Met) c.1045C>A (p.Leu349Met) | |
X | g.149483085A>C | CA519173994 | IDS | c.1314T>G (p.Leu438=) c.681T>G (p.Leu227=) c.1044T>G (p.Leu348=) | |
X | g.149483085A>G | CA519173996 | IDS | c.1314T>C (p.Leu438=) c.681T>C (p.Leu227=) c.1044T>C (p.Leu348=) | |
X | g.149483085A>T | CA519173998 | IDS | c.1314T>A (p.Leu438=) c.681T>A (p.Leu227=) c.1044T>A (p.Leu348=) | |
X | g.149483086A>C | CA414518357 | IDS | c.1313T>G (p.Leu438Arg) c.680T>G (p.Leu227Arg) c.1043T>G (p.Leu348Arg) | |
X | g.149483086A>G | CA414518358 | IDS | c.1313T>C (p.Leu438Pro) c.680T>C (p.Leu227Pro) c.1043T>C (p.Leu348Pro) | |
X | g.149483086A>T | CA414518359 | IDS | c.1313T>A (p.Leu438His) c.680T>A (p.Leu227His) c.1043T>A (p.Leu348His) | |
X | g.149483087G>A | CA414518360 | IDS | c.1312C>T (p.Leu438Phe) c.679C>T (p.Leu227Phe) c.1042C>T (p.Leu348Phe) | gnomAD v4 |
X | g.149483087G>C | CA414518361 | IDS | c.1312C>G (p.Leu438Val) c.679C>G (p.Leu227Val) c.1042C>G (p.Leu348Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483087G= | CA2465004042 | IDS | c.1312C= (p.Leu438=) c.679C= (p.Leu227=) c.1042C= (p.Leu348=) | |
X | g.149483087G>T | CA414518362 | IDS | c.1312C>A (p.Leu438Ile) c.679C>A (p.Leu227Ile) c.1042C>A (p.Leu348Ile) | |
X | g.149483088del | CA2695236516 | IDS | c.1312del (p.Leu438PhefsTer2) c.679del (p.Leu227PhefsTer2) c.1042del (p.Leu348PhefsTer2) | |
X | g.149483088G>A | CA519174000 | IDS | c.1311C>T (p.Asn437=) c.678C>T (p.Asn226=) c.1041C>T (p.Asn347=) | |
X | g.149483088G>C | CA414518363 | IDS | c.1311C>G (p.Asn437Lys) c.678C>G (p.Asn226Lys) c.1041C>G (p.Asn347Lys) | |
X | g.149483088G= | CA2465004043 | IDS | c.1311C= (p.Asn437=) c.678C= (p.Asn226=) c.1041C= (p.Asn347=) | |
X | g.149483088G>T | CA414518364 | IDS | c.1311C>A (p.Asn437Lys) c.678C>A (p.Asn226Lys) c.1041C>A (p.Asn347Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483089T>A | CA414518365 | IDS | c.1310A>T (p.Asn437Ile) c.677A>T (p.Asn226Ile) c.1040A>T (p.Asn347Ile) | |
X | g.149483089T>C | CA414518366 | IDS | c.1310A>G (p.Asn437Ser) c.677A>G (p.Asn226Ser) c.1040A>G (p.Asn347Ser) | |
X | g.149483089T>G | CA414518367 | IDS | c.1310A>C (p.Asn437Thr) c.677A>C (p.Asn226Thr) c.1040A>C (p.Asn347Thr) | |
X | g.149483090T>A | CA414518368 | IDS | c.1309A>T (p.Asn437Tyr) c.676A>T (p.Asn226Tyr) n.416A>T c.1039A>T (p.Asn347Tyr) | |
X | g.149483090T>C | CA414518370 | IDS | c.1309A>G (p.Asn437Asp) c.676A>G (p.Asn226Asp) n.416A>G c.1039A>G (p.Asn347Asp) | |
X | g.149483090T>G | CA414518369 | IDS | c.1309A>C (p.Asn437His) c.676A>C (p.Asn226His) n.416A>C c.1039A>C (p.Asn347His) | |
X | g.149483091C>A | CA414518371 | IDS | c.1308G>T (p.Lys436Asn) c.675G>T (p.Lys225Asn) n.415G>T c.1038G>T (p.Lys346Asn) | |
X | g.149483091C>G | CA414518372 | IDS | c.1308G>C (p.Lys436Asn) c.675G>C (p.Lys225Asn) n.415G>C c.1038G>C (p.Lys346Asn) | |
X | g.149483091C>T | CA519174004 | IDS | c.1308G>A (p.Lys436=) c.675G>A (p.Lys225=) n.415G>A c.1038G>A (p.Lys346=) | |
X | g.149483092T>A | CA414518373 | IDS | c.1307A>T (p.Lys436Met) c.674A>T (p.Lys225Met) n.414A>T c.1037A>T (p.Lys346Met) | |
X | g.149483092T>C | CA414518374 | IDS | c.1307A>G (p.Lys436Arg) c.674A>G (p.Lys225Arg) n.414A>G c.1037A>G (p.Lys346Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483092T>G | CA414518375 | IDS | c.1307A>C (p.Lys436Thr) c.674A>C (p.Lys225Thr) n.414A>C c.1037A>C (p.Lys346Thr) | |
X | g.149483092T= | CA2465004044 | IDS | c.1307A= (p.Lys436=) c.674A= (p.Lys225=) n.414A= c.1037A= (p.Lys346=) | |
X | g.149483093T>A | CA414518376 | IDS | c.1306A>T (p.Lys436Ter) c.673A>T (p.Lys225Ter) n.413A>T c.1036A>T (p.Lys346Ter) | |
X | g.149483093T>C | CA414518377 | IDS | c.1306A>G (p.Lys436Glu) c.673A>G (p.Lys225Glu) n.413A>G c.1036A>G (p.Lys346Glu) | |
X | g.149483093T>G | CA414518378 | IDS | c.1306A>C (p.Lys436Gln) c.673A>C (p.Lys225Gln) n.413A>C c.1036A>C (p.Lys346Gln) | |
X | g.149483094_149483100dup | CA2695236517 | IDS | c.1300_1306dup (p.Lys436ArgfsTer13) c.667_673dup (p.Lys225ArgfsTer13) n.407_413dup c.1030_1036dup (p.Lys346ArgfsTer13) | |
X | g.149483096_149483104del | CA2695236518 | IDS | c.1298_1306del (p.Arg433_Gly435del) c.665_673del (p.Arg222_Gly224del) n.405_413del c.1028_1036del (p.Arg343_Gly345del) | |
X | g.149483094G>A | CA519174010 | IDS | c.1305C>T (p.Gly435=) c.672C>T (p.Gly224=) n.412C>T c.1035C>T (p.Gly345=) | dbSNP |
X | g.149483094G>C | CA519174011 | IDS | c.1305C>G (p.Gly435=) c.672C>G (p.Gly224=) n.412C>G c.1035C>G (p.Gly345=) | |
X | g.149483094G>T | CA519174012 | IDS | c.1305C>A (p.Gly435=) c.672C>A (p.Gly224=) n.412C>A c.1035C>A (p.Gly345=) | |
X | g.149483095C>A | CA414518379 | IDS | c.1304G>T (p.Gly435Val) c.671G>T (p.Gly224Val) n.411G>T c.1034G>T (p.Gly345Val) | |
X | g.149483095C>G | CA414518380 | IDS | c.1304G>C (p.Gly435Ala) c.671G>C (p.Gly224Ala) n.411G>C c.1034G>C (p.Gly345Ala) | |
X | g.149483095C>T | CA414518381 | IDS | c.1304G>A (p.Gly435Asp) c.671G>A (p.Gly224Asp) n.411G>A c.1034G>A (p.Gly345Asp) | gnomAD v4 |
X | g.149483096C>A | CA414518382 | IDS | c.1303G>T (p.Gly435Cys) c.670G>T (p.Gly224Cys) n.410G>T c.1033G>T (p.Gly345Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.149483096C= | CA2465004045 | IDS | c.1303G= (p.Gly435=) c.670G= (p.Gly224=) n.410G= c.1033G= (p.Gly345=) | |
X | g.149483096C>G | CA414518383 | IDS | c.1303G>C (p.Gly435Arg) c.670G>C (p.Gly224Arg) n.410G>C c.1033G>C (p.Gly345Arg) | |
X | g.149483096C>T | CA414518384 | IDS | c.1303G>A (p.Gly435Ser) c.670G>A (p.Gly224Ser) n.410G>A c.1033G>A (p.Gly345Ser) | |
X | g.149483097T>A | CA414518386 | IDS | c.1302A>T (p.Glu434Asp) c.669A>T (p.Glu223Asp) n.409A>T c.1032A>T (p.Glu344Asp) | gnomAD v4 |
X | g.149483097T>C | CA519174016 | IDS | c.1302A>G (p.Glu434=) c.669A>G (p.Glu223=) n.409A>G c.1032A>G (p.Glu344=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483097T>G | CA414518385 | IDS | c.1302A>C (p.Glu434Asp) c.669A>C (p.Glu223Asp) n.409A>C c.1032A>C (p.Glu344Asp) | |
X | g.149483097T= | CA2465004046 | IDS | c.1302A= (p.Glu434=) c.669A= (p.Glu223=) n.409A= c.1032A= (p.Glu344=) | |
X | g.149483098T>A | CA414518387 | IDS | c.1301A>T (p.Glu434Val) c.668A>T (p.Glu223Val) n.408A>T c.1031A>T (p.Glu344Val) | |
X | g.149483098T>C | CA414518388 | IDS | c.1301A>G (p.Glu434Gly) c.668A>G (p.Glu223Gly) n.408A>G c.1031A>G (p.Glu344Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483098T>G | CA414518389 | IDS | c.1301A>C (p.Glu434Ala) c.668A>C (p.Glu223Ala) n.408A>C c.1031A>C (p.Glu344Ala) | |
X | g.149483098T= | CA2465004047 | IDS | c.1301A= (p.Glu434=) c.668A= (p.Glu223=) n.408A= c.1031A= (p.Glu344=) | |
X | g.149483099C>A | CA414518390 | IDS | c.1300G>T (p.Glu434Ter) c.667G>T (p.Glu223Ter) n.407G>T c.1030G>T (p.Glu344Ter) | |
X | g.149483099C>G | CA414518391 | IDS | c.1300G>C (p.Glu434Gln) c.667G>C (p.Glu223Gln) n.407G>C c.1030G>C (p.Glu344Gln) | |
X | g.149483099C>T | CA414518392 | IDS | c.1300G>A (p.Glu434Lys) c.667G>A (p.Glu223Lys) n.407G>A c.1030G>A (p.Glu344Lys) | ClinVar |
X | g.149483100T>A | CA414518393 | IDS | c.1299A>T (p.Arg433Ser) c.666A>T (p.Arg222Ser) n.406A>T c.1029A>T (p.Arg343Ser) | |
X | g.149483100T>C | CA519174025 | IDS | c.1299A>G (p.Arg433=) c.666A>G (p.Arg222=) n.406A>G c.1029A>G (p.Arg343=) | |
X | g.149483100T>G | CA414518394 | IDS | c.1299A>C (p.Arg433Ser) c.666A>C (p.Arg222Ser) n.406A>C c.1029A>C (p.Arg343Ser) | |
X | g.149483101C>A | CA414518395 | IDS | c.1298G>T (p.Arg433Ile) c.665G>T (p.Arg222Ile) n.405G>T c.1028G>T (p.Arg343Ile) | |
X | g.149483101C>G | CA414518396 | IDS | c.1298G>C (p.Arg433Thr) c.665G>C (p.Arg222Thr) n.405G>C c.1028G>C (p.Arg343Thr) | |
X | g.149483101C>T | CA414518397 | IDS | c.1298G>A (p.Arg433Lys) c.665G>A (p.Arg222Lys) n.405G>A c.1028G>A (p.Arg343Lys) | gnomAD v4 |
X | g.149483102_149483106dup | CA2695236519 | IDS | c.1294_1298dup (p.Arg433SerfsTer9) c.661_665dup (p.Arg222SerfsTer9) n.401_405dup c.1024_1028dup (p.Arg343SerfsTer9) | |
X | g.149483102T>A | CA414518398 | IDS | c.1297A>T (p.Arg433Ter) c.664A>T (p.Arg222Ter) n.404A>T c.1027A>T (p.Arg343Ter) | |
X | g.149483102T>C | CA414518399 | IDS | c.1297A>G (p.Arg433Gly) c.664A>G (p.Arg222Gly) n.404A>G c.1027A>G (p.Arg343Gly) | ClinVar dbSNP gnomAD v4 |
X | g.149483102T>G | CA519174026 | IDS | c.1297A>C (p.Arg433=) c.664A>C (p.Arg222=) n.404A>C c.1027A>C (p.Arg343=) | |
X | g.149483102T= | CA2465004048 | IDS | c.1297A= (p.Arg433=) c.664A= (p.Arg222=) n.404A= c.1027A= (p.Arg343=) | |
X | g.149483103G>A | CA519174027 | IDS | c.1296C>T (p.Cys432=) c.663C>T (p.Cys221=) n.403C>T c.1026C>T (p.Cys342=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483103G>C | CA414518400 | IDS | c.1296C>G (p.Cys432Trp) c.663C>G (p.Cys221Trp) n.403C>G c.1026C>G (p.Cys342Trp) | |
X | g.149483103G= | CA2465004049 | IDS | c.1296C= (p.Cys432=) c.663C= (p.Cys221=) n.403C= c.1026C= (p.Cys342=) | |
X | g.149483103G>T | CA414518401 | IDS | c.1296C>A (p.Cys432Ter) c.663C>A (p.Cys221Ter) n.403C>A c.1026C>A (p.Cys342Ter) | |
X | g.149483104C>A | CA414518402 | IDS | c.1295G>T (p.Cys432Phe) c.662G>T (p.Cys221Phe) n.402G>T c.1025G>T (p.Cys342Phe) | ClinVar |
X | g.149483104C>G | CA414518403 | IDS | c.1295G>C (p.Cys432Ser) c.662G>C (p.Cys221Ser) n.402G>C c.1025G>C (p.Cys342Ser) | |
X | g.149483104C>T | CA414518404 | IDS | c.1295G>A (p.Cys432Tyr) c.662G>A (p.Cys221Tyr) n.402G>A c.1025G>A (p.Cys342Tyr) | |
X | g.149483106_149483107dup | CA2695236520 | IDS | c.1294_1295dup (p.Arg433AlafsTer8) c.661_662dup (p.Arg222AlafsTer8) n.401_402dup c.1024_1025dup (p.Arg343AlafsTer8) | |
X | g.149483105A>C | CA414518405 | IDS | c.1294T>G (p.Cys432Gly) c.661T>G (p.Cys221Gly) n.401T>G c.1024T>G (p.Cys342Gly) | |
X | g.149483105A>G | CA414518406 | IDS | c.1294T>C (p.Cys432Arg) c.661T>C (p.Cys221Arg) n.401T>C c.1024T>C (p.Cys342Arg) | |
X | g.149483105A>T | CA414518407 | IDS | c.1294T>A (p.Cys432Ser) c.661T>A (p.Cys221Ser) n.401T>A c.1024T>A (p.Cys342Ser) | |
X | g.149483106C>A | CA519174032 | IDS | c.1293G>T (p.Leu431=) c.660G>T (p.Leu220=) n.400G>T c.1023G>T (p.Leu341=) | |
X | g.149483106C= | CA2465004050 | IDS | c.1293G= (p.Leu431=) c.660G= (p.Leu220=) n.400G= c.1023G= (p.Leu341=) | |
X | g.149483106C>G | CA10537463 | IDS | c.1293G>C (p.Leu431=) c.660G>C (p.Leu220=) n.400G>C c.1023G>C (p.Leu341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483106C>T | CA519174033 | IDS | c.1293G>A (p.Leu431=) c.660G>A (p.Leu220=) n.400G>A c.1023G>A (p.Leu341=) | ClinVar dbSNP gnomAD v4 |
X | g.149483107A>C | CA414518408 | IDS | c.1292T>G (p.Leu431Arg) c.659T>G (p.Leu220Arg) n.399T>G c.1022T>G (p.Leu341Arg) | |
X | g.149483107A>G | CA414518409 | IDS | c.1292T>C (p.Leu431Pro) c.659T>C (p.Leu220Pro) n.399T>C c.1022T>C (p.Leu341Pro) | |
X | g.149483107A>T | CA414518410 | IDS | c.1292T>A (p.Leu431Gln) c.659T>A (p.Leu220Gln) n.399T>A c.1022T>A (p.Leu341Gln) | |
X | g.149483108G>A | CA519174037 | IDS | c.1291C>T (p.Leu431=) c.658C>T (p.Leu220=) n.398C>T c.1021C>T (p.Leu341=) | |
X | g.149483108G>C | CA414518411 | IDS | c.1291C>G (p.Leu431Val) c.658C>G (p.Leu220Val) n.398C>G c.1021C>G (p.Leu341Val) | |
X | g.149483108G>T | CA414518412 | IDS | c.1291C>A (p.Leu431Met) c.658C>A (p.Leu220Met) n.398C>A c.1021C>A (p.Leu341Met) | |
X | g.149483109C>A | CA414518414 | IDS | c.1290G>T (p.Glu430Asp) c.657G>T (p.Glu219Asp) n.397G>T c.1020G>T (p.Glu340Asp) | |
X | g.149483109C= | CA2465004051 | IDS | c.1290G= (p.Glu430=) c.657G= (p.Glu219=) n.397G= c.1020G= (p.Glu340=) | |
X | g.149483109C>G | CA414518413 | IDS | c.1290G>C (p.Glu430Asp) c.657G>C (p.Glu219Asp) n.397G>C c.1020G>C (p.Glu340Asp) | |
X | g.149483109C>T | CA10537464 | IDS | c.1290G>A (p.Glu430=) c.657G>A (p.Glu219=) n.397G>A c.1020G>A (p.Glu340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483110T>A | CA414518415 | IDS | c.1289A>T (p.Glu430Val) c.656A>T (p.Glu219Val) n.396A>T c.1019A>T (p.Glu340Val) | |
X | g.149483110T>C | CA414518416 | IDS | c.1289A>G (p.Glu430Gly) c.656A>G (p.Glu219Gly) n.396A>G c.1019A>G (p.Glu340Gly) | |
X | g.149483110T>G | CA414518417 | IDS | c.1289A>C (p.Glu430Ala) c.656A>C (p.Glu219Ala) n.396A>C c.1019A>C (p.Glu340Ala) | |
X | g.149483111C>A | CA414518418 | IDS | c.1288G>T (p.Glu430Ter) c.655G>T (p.Glu219Ter) n.395G>T c.1018G>T (p.Glu340Ter) | |
X | g.149483111C>G | CA414518419 | IDS | c.1288G>C (p.Glu430Gln) c.655G>C (p.Glu219Gln) n.395G>C c.1018G>C (p.Glu340Gln) | |
X | g.149483111C>T | CA414518420 | IDS | c.1288G>A (p.Glu430Lys) c.655G>A (p.Glu219Lys) n.395G>A c.1018G>A (p.Glu340Lys) | |
X | g.149483112A>C | CA519174041 | IDS | c.1287T>G (p.Val429=) c.654T>G (p.Val218=) n.394T>G c.1017T>G (p.Val339=) | gnomAD v4 |
X | g.149483112A>G | CA519174043 | IDS | c.1287T>C (p.Val429=) c.654T>C (p.Val218=) n.394T>C c.1017T>C (p.Val339=) | |
X | g.149483112A>T | CA519174044 | IDS | c.1287T>A (p.Val429=) c.654T>A (p.Val218=) n.394T>A c.1017T>A (p.Val339=) | |
X | g.149483113A>C | CA414518421 | IDS | c.1286T>G (p.Val429Gly) c.653T>G (p.Val218Gly) n.393T>G c.1016T>G (p.Val339Gly) | |
X | g.149483113A>G | CA414518422 | IDS | c.1286T>C (p.Val429Ala) c.653T>C (p.Val218Ala) n.393T>C c.1016T>C (p.Val339Ala) | |
X | g.149483113A>T | CA414518423 | IDS | c.1286T>A (p.Val429Asp) c.653T>A (p.Val218Asp) n.393T>A c.1016T>A (p.Val339Asp) | |
X | g.149483114C>A | CA414518424 | IDS | c.1285G>T (p.Val429Phe) c.652G>T (p.Val218Phe) n.392G>T c.1015G>T (p.Val339Phe) | |
X | g.149483114C= | CA2465004052 | IDS | c.1285G= (p.Val429=) c.652G= (p.Val218=) n.392G= c.1015G= (p.Val339=) | |
X | g.149483114C>G | CA414518425 | IDS | c.1285G>C (p.Val429Leu) c.652G>C (p.Val218Leu) n.392G>C c.1015G>C (p.Val339Leu) | |
X | g.149483114C>T | CA10537465 | IDS | c.1285G>A (p.Val429Ile) c.652G>A (p.Val218Ile) n.392G>A c.1015G>A (p.Val339Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.149483115G>A | CA10537466 | IDS | c.1284C>T (p.His428=) c.651C>T (p.His217=) n.391C>T c.1014C>T (p.His338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483115G>C | CA414518427 | IDS | c.1284C>G (p.His428Gln) c.651C>G (p.His217Gln) n.391C>G c.1014C>G (p.His338Gln) | |
X | g.149483115G= | CA2465004053 | IDS | c.1284C= (p.His428=) c.651C= (p.His217=) n.391C= c.1014C= (p.His338=) | |
X | g.149483115G>T | CA414518426 | IDS | c.1284C>A (p.His428Gln) c.651C>A (p.His217Gln) n.391C>A c.1014C>A (p.His338Gln) | |
X | g.149483116_149483117del | CA2739289615 | IDS | c.1283_1284del (p.His428ArgfsTer2) c.650_651del (p.His217ArgfsTer2) n.390_391del c.1013_1014del (p.His338ArgfsTer2) | |
X | g.149483116T>A | CA414518429 | IDS | c.1283A>T (p.His428Leu) c.650A>T (p.His217Leu) n.390A>T c.1013A>T (p.His338Leu) | COSMIC |
X | g.149483116T>C | CA414518428 | IDS | c.1283A>G (p.His428Arg) c.650A>G (p.His217Arg) n.390A>G c.1013A>G (p.His338Arg) | |
X | g.149483116T>G | CA414518430 | IDS | c.1283A>C (p.His428Pro) c.650A>C (p.His217Pro) n.390A>C c.1013A>C (p.His338Pro) | |
X | g.149483117G>A | CA414518431 | IDS | c.1282C>T (p.His428Tyr) c.649C>T (p.His217Tyr) n.389C>T c.1012C>T (p.His338Tyr) | |
X | g.149483117G>C | CA414518432 | IDS | c.1282C>G (p.His428Asp) c.649C>G (p.His217Asp) n.389C>G c.1012C>G (p.His338Asp) | |
X | g.149483117G>T | CA414518433 | IDS | c.1282C>A (p.His428Asn) c.649C>A (p.His217Asn) n.389C>A c.1012C>A (p.His338Asn) | |
X | g.149483118A= | CA2465004054 | IDS | c.1281T= (p.Phe427=) c.648T= (p.Phe216=) n.388T= c.1011T= (p.Phe337=) | |
X | g.149483118A>C | CA10537467 | IDS | c.1281T>G (p.Phe427Leu) c.648T>G (p.Phe216Leu) n.388T>G c.1011T>G (p.Phe337Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483118A>G | CA519174051 | IDS | c.1281T>C (p.Phe427=) c.648T>C (p.Phe216=) n.388T>C c.1011T>C (p.Phe337=) | |
X | g.149483118A>T | CA414518434 | IDS | c.1281T>A (p.Phe427Leu) c.648T>A (p.Phe216Leu) n.388T>A c.1011T>A (p.Phe337Leu) | |
X | g.149483119A>C | CA414518435 | IDS | c.1280T>G (p.Phe427Cys) c.647T>G (p.Phe216Cys) n.387T>G c.1010T>G (p.Phe337Cys) | |
X | g.149483119A>G | CA414518436 | IDS | c.1280T>C (p.Phe427Ser) c.647T>C (p.Phe216Ser) n.387T>C c.1010T>C (p.Phe337Ser) | |
X | g.149483119A>T | CA414518437 | IDS | c.1280T>A (p.Phe427Tyr) c.647T>A (p.Phe216Tyr) n.387T>A c.1010T>A (p.Phe337Tyr) | |
X | g.149483120A= | CA2465004055 | IDS | c.1279T= (p.Phe427=) c.646T= (p.Phe216=) n.386T= c.1009T= (p.Phe337=) | |
X | g.149483120A>C | CA414518438 | IDS | c.1279T>G (p.Phe427Val) c.646T>G (p.Phe216Val) n.386T>G c.1009T>G (p.Phe337Val) | |
X | g.149483120A>G | CA414518439 | IDS | c.1279T>C (p.Phe427Leu) c.646T>C (p.Phe216Leu) n.386T>C c.1009T>C (p.Phe337Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483120A>T | CA414518440 | IDS | c.1279T>A (p.Phe427Ile) c.646T>A (p.Phe216Ile) n.386T>A c.1009T>A (p.Phe337Ile) | |
X | g.149483121T>A | CA519174059 | IDS | c.1278A>T (p.Ser426=) c.645A>T (p.Ser215=) n.385A>T c.1008A>T (p.Ser336=) | |
X | g.149483121T>C | CA519174058 | IDS | c.1278A>G (p.Ser426=) c.645A>G (p.Ser215=) n.385A>G c.1008A>G (p.Ser336=) | gnomAD v4 |
X | g.149483121T>G | CA519174057 | IDS | c.1278A>C (p.Ser426=) c.645A>C (p.Ser215=) n.385A>C c.1008A>C (p.Ser336=) | |
X | g.149483122G>A | CA414518443 | IDS | c.1277C>T (p.Ser426Leu) c.644C>T (p.Ser215Leu) n.384C>T c.1007C>T (p.Ser336Leu) | |
X | g.149483122G>C | CA414518442 | IDS | c.1277C>G (p.Ser426Ter) c.644C>G (p.Ser215Ter) n.384C>G c.1007C>G (p.Ser336Ter) | |
X | g.149483122G>T | CA414518441 | IDS | c.1277C>A (p.Ser426Ter) c.644C>A (p.Ser215Ter) n.384C>A c.1007C>A (p.Ser336Ter) | |
X | g.149483125_149483128del | CA2695236522 | IDS | c.1274_1277del (p.Pro425HisfsTer14) c.641_644del (p.Pro214HisfsTer14) n.381_384del c.1004_1007del (p.Pro335HisfsTer14) | |
X | g.149483123A>C | CA414518444 | IDS | c.1276T>G (p.Ser426Ala) c.643T>G (p.Ser215Ala) n.383T>G c.1006T>G (p.Ser336Ala) | |
X | g.149483123A>G | CA414518445 | IDS | c.1276T>C (p.Ser426Pro) c.643T>C (p.Ser215Pro) n.383T>C c.1006T>C (p.Ser336Pro) | |
X | g.149483123A>T | CA414518446 | IDS | c.1276T>A (p.Ser426Thr) c.643T>A (p.Ser215Thr) n.383T>A c.1006T>A (p.Ser336Thr) | |
X | g.149483124A>C | CA519174066 | IDS | c.1275T>G (p.Pro425=) c.642T>G (p.Pro214=) n.382T>G c.1005T>G (p.Pro335=) | |
X | g.149483124A>G | CA519174065 | IDS | c.1275T>C (p.Pro425=) c.642T>C (p.Pro214=) n.382T>C c.1005T>C (p.Pro335=) | |
X | g.149483124A>T | CA519174064 | IDS | c.1275T>A (p.Pro425=) c.642T>A (p.Pro214=) n.382T>A c.1005T>A (p.Pro335=) | ClinVar |
X | g.149483125G>A | CA414518447 | IDS | c.1274C>T (p.Pro425Leu) c.641C>T (p.Pro214Leu) n.381C>T c.1004C>T (p.Pro335Leu) | |
X | g.149483125G>C | CA414518448 | IDS | c.1274C>G (p.Pro425Arg) c.641C>G (p.Pro214Arg) n.381C>G c.1004C>G (p.Pro335Arg) | |
X | g.149483125G>T | CA414518449 | IDS | c.1274C>A (p.Pro425His) c.641C>A (p.Pro214His) n.381C>A c.1004C>A (p.Pro335His) | |
X | g.149483126del | CA2695236523 | IDS | c.1274del (p.Pro425LeufsTer15) c.641del (p.Pro214LeufsTer15) n.381del c.1004del (p.Pro335LeufsTer15) | |
X | g.149483126G>A | CA414518450 | IDS | c.1273C>T (p.Pro425Ser) c.640C>T (p.Pro214Ser) n.380C>T c.1003C>T (p.Pro335Ser) | |
X | g.149483126G>C | CA414518451 | IDS | c.1273C>G (p.Pro425Ala) c.640C>G (p.Pro214Ala) n.380C>G c.1003C>G (p.Pro335Ala) | |
X | g.149483126G>T | CA414518452 | IDS | c.1273C>A (p.Pro425Thr) c.640C>A (p.Pro214Thr) n.380C>A c.1003C>A (p.Pro335Thr) | |
X | g.149483127A>C | CA519174071 | IDS | c.1272T>G (p.Val424=) c.639T>G (p.Val213=) n.379T>G c.1002T>G (p.Val334=) | |
X | g.149483127A>G | CA519174076 | IDS | c.1272T>C (p.Val424=) c.639T>C (p.Val213=) n.379T>C c.1002T>C (p.Val334=) | gnomAD v4 |
X | g.149483127A>T | CA519174073 | IDS | c.1272T>A (p.Val424=) c.639T>A (p.Val213=) n.379T>A c.1002T>A (p.Val334=) | |
X | g.149483128del | CA2499226412 | IDS | c.1272del (p.Pro425LeufsTer15) c.639del (p.Pro214LeufsTer15) n.379del c.1002del (p.Pro335LeufsTer15) | ClinVar dbSNP |
X | g.149483128A= | CA2465004056 | IDS | c.1271T= (p.Val424=) c.638T= (p.Val213=) n.378T= c.1001T= (p.Val334=) | |
X | g.149483128A>C | CA414518453 | IDS | c.1271T>G (p.Val424Gly) c.638T>G (p.Val213Gly) n.378T>G c.1001T>G (p.Val334Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.149483128A>G | CA414518454 | IDS | c.1271T>C (p.Val424Ala) c.638T>C (p.Val213Ala) n.378T>C c.1001T>C (p.Val334Ala) | |
X | g.149483128A>T | CA414518455 | IDS | c.1271T>A (p.Val424Asp) c.638T>A (p.Val213Asp) n.378T>A c.1001T>A (p.Val334Asp) | |
X | g.149483128_149483129del | CA2695236526 | IDS | c.1270_1271del (p.Val424SerfsTer6) c.637_638del (p.Val213SerfsTer6) n.377_378del c.1000_1001del (p.Val334SerfsTer6) | |
X | g.149483128_149483129insG | CA2838032000 | IDS | c.1270_1271insC (p.Val424AlafsTer7) c.637_638insC (p.Val213AlafsTer7) n.377_378insC c.1000_1001insC (p.Val334AlafsTer7) | |
X | g.149483128_149483129insGG | CA2838032001 | IDS | c.1270_1271insCC (p.Val424AlafsTer17) c.637_638insCC (p.Val213AlafsTer17) n.377_378insCC c.1000_1001insCC (p.Val334AlafsTer17) | |
X | g.149483129del | CA2695236528 | IDS | c.1270del (p.Val424PhefsTer16) c.637del (p.Val213PhefsTer16) n.377del c.1000del (p.Val334PhefsTer16) | |
X | g.149483129C>A | CA414518457 | IDS | c.1270G>T (p.Val424Phe) c.637G>T (p.Val213Phe) n.377G>T c.1000G>T (p.Val334Phe) | |
X | g.149483129C= | CA2465004057 | IDS | c.1270G= (p.Val424=) c.637G= (p.Val213=) n.377G= c.1000G= (p.Val334=) | |
X | g.149483129C>G | CA414518456 | IDS | c.1270G>C (p.Val424Leu) c.637G>C (p.Val213Leu) n.377G>C c.1000G>C (p.Val334Leu) | |
X | g.149483129C>T | CA10537468 | IDS | c.1270G>A (p.Val424Ile) c.637G>A (p.Val213Ile) n.377G>A c.1000G>A (p.Val334Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483130G>A | CA10537469 | IDS | c.1269C>T (p.Pro423=) c.636C>T (p.Pro212=) n.376C>T c.999C>T (p.Pro333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483130G>C | CA519174081 | IDS | c.1269C>G (p.Pro423=) c.636C>G (p.Pro212=) n.376C>G c.999C>G (p.Pro333=) | |
X | g.149483130G= | CA2465004058 | IDS | c.1269C= (p.Pro423=) c.636C= (p.Pro212=) n.376C= c.999C= (p.Pro333=) | |
X | g.149483130G>T | CA519174082 | IDS | c.1269C>A (p.Pro423=) c.636C>A (p.Pro212=) n.376C>A c.999C>A (p.Pro333=) | |
X | g.149483133dup | CA2695236531 | IDS | c.1269dup (p.Val424ArgfsTer7) c.636dup (p.Val213ArgfsTer7) n.376dup c.999dup (p.Val334ArgfsTer7) | |
X | g.149483132_149483133dup | CA2695236532 | IDS | c.1268_1269dup (p.Val424ProfsTer17) c.635_636dup (p.Val213ProfsTer17) n.375_376dup c.998_999dup (p.Val334ProfsTer17) | |
X | g.149483133del | CA2580101618 | IDS | c.1269del (p.Val424PhefsTer16) c.636del (p.Val213PhefsTer16) n.376del c.999del (p.Val334PhefsTer16) | ClinVar dbSNP |
X | g.149483131G>A | CA414518458 | IDS | c.1268C>T (p.Pro423Leu) c.635C>T (p.Pro212Leu) n.375C>T c.998C>T (p.Pro333Leu) | ClinVar dbSNP |
X | g.149483131G>C | CA414518459 | IDS | c.1268C>G (p.Pro423Arg) c.635C>G (p.Pro212Arg) n.375C>G c.998C>G (p.Pro333Arg) | |
X | g.149483131G= | CA2465004059 | IDS | c.1268C= (p.Pro423=) c.635C= (p.Pro212=) n.375C= c.998C= (p.Pro333=) | |
X | g.149483131G>T | CA414518460 | IDS | c.1268C>A (p.Pro423His) c.635C>A (p.Pro212His) n.375C>A c.998C>A (p.Pro333His) | |
X | g.149483132G>A | CA414518461 | IDS | c.1267C>T (p.Pro423Ser) c.634C>T (p.Pro212Ser) n.374C>T c.997C>T (p.Pro333Ser) | gnomAD v4 |
X | g.149483132G>C | CA414518462 | IDS | c.1267C>G (p.Pro423Ala) c.634C>G (p.Pro212Ala) n.374C>G c.997C>G (p.Pro333Ala) | gnomAD v4 |
X | g.149483132G>T | CA414518463 | IDS | c.1267C>A (p.Pro423Thr) c.634C>A (p.Pro212Thr) n.374C>A c.997C>A (p.Pro333Thr) | |
X | g.149483133G>A | CA519174089 | IDS | c.1266C>T (p.Cys422=) c.633C>T (p.Cys211=) n.373C>T c.996C>T (p.Cys332=) | |
X | g.149483133G>C | CA414518464 | IDS | c.1266C>G (p.Cys422Trp) c.633C>G (p.Cys211Trp) n.373C>G c.996C>G (p.Cys332Trp) | |
X | g.149483133G>T | CA414518465 | IDS | c.1266C>A (p.Cys422Ter) c.633C>A (p.Cys211Ter) n.373C>A c.996C>A (p.Cys332Ter) | |
X | g.149483134C>A | CA414518466 | IDS | c.1265G>T (p.Cys422Phe) c.632G>T (p.Cys211Phe) n.372G>T c.995G>T (p.Cys332Phe) | ClinVar dbSNP |
X | g.149483134C= | CA2465004060 | IDS | c.1265G= (p.Cys422=) c.632G= (p.Cys211=) n.372G= c.995G= (p.Cys332=) | |
X | g.149483134C>G | CA414518467 | IDS | c.1265G>C (p.Cys422Ser) c.632G>C (p.Cys211Ser) n.372G>C c.995G>C (p.Cys332Ser) | |
X | g.149483134C>T | CA10604925 | IDS | c.1265G>A (p.Cys422Tyr) c.632G>A (p.Cys211Tyr) n.372G>A c.995G>A (p.Cys332Tyr) | ClinVar dbSNP |
X | g.149483135A= | CA2465004061 | IDS | c.1264T= (p.Cys422=) c.631T= (p.Cys211=) n.371T= c.994T= (p.Cys332=) | |
X | g.149483135A>C | CA255274 | IDS | c.1264T>G (p.Cys422Gly) c.631T>G (p.Cys211Gly) n.371T>G c.994T>G (p.Cys332Gly) | ClinVar dbSNP |
X | g.149483135A>G | CA414518469 | IDS | c.1264T>C (p.Cys422Arg) c.631T>C (p.Cys211Arg) n.371T>C c.994T>C (p.Cys332Arg) | ClinVar dbSNP |
X | g.149483135A>T | CA414518468 | IDS | c.1264T>A (p.Cys422Ser) c.631T>A (p.Cys211Ser) n.371T>A c.994T>A (p.Cys332Ser) | |
X | g.149483136G>A | CA519174097 | IDS | c.1263C>T (p.Arg421=) c.630C>T (p.Arg210=) n.370C>T c.993C>T (p.Arg331=) | |
X | g.149483136G>C | CA519174098 | IDS | c.1263C>G (p.Arg421=) c.630C>G (p.Arg210=) n.370C>G c.993C>G (p.Arg331=) | |
X | g.149483136G>T | CA519174099 | IDS | c.1263C>A (p.Arg421=) c.630C>A (p.Arg210=) n.370C>A c.993C>A (p.Arg331=) | |
X | g.149483137C>A | CA414518470 | IDS | c.1262G>T (p.Arg421Leu) c.629G>T (p.Arg210Leu) n.369G>T c.992G>T (p.Arg331Leu) | |
X | g.149483137C= | CA2465004062 | IDS | c.1262G= (p.Arg421=) c.629G= (p.Arg210=) n.369G= c.992G= (p.Arg331=) | |
X | g.149483137C>G | CA414518471 | IDS | c.1262G>C (p.Arg421Pro) c.629G>C (p.Arg210Pro) n.369G>C c.992G>C (p.Arg331Pro) | |
X | g.149483137C>T | CA10537470 | IDS | c.1262G>A (p.Arg421His) c.629G>A (p.Arg210His) n.369G>A c.992G>A (p.Arg331His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483138G>A | CA10537471 | IDS | c.1261C>T (p.Arg421Cys) c.628C>T (p.Arg210Cys) n.368C>T c.991C>T (p.Arg331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483138G>C | CA414518472 | IDS | c.1261C>G (p.Arg421Gly) c.628C>G (p.Arg210Gly) n.368C>G c.991C>G (p.Arg331Gly) | |
X | g.149483138G= | CA2465004063 | IDS | c.1261C= (p.Arg421=) c.628C= (p.Arg210=) n.368C= c.991C= (p.Arg331=) | |
X | g.149483138G>T | CA414518473 | IDS | c.1261C>A (p.Arg421Ser) c.628C>A (p.Arg210Ser) n.368C>A c.991C>A (p.Arg331Ser) | |
X | g.149483139A>C | CA519174106 | IDS | c.1260T>G (p.Pro420=) c.627T>G (p.Pro209=) n.367T>G c.990T>G (p.Pro330=) | |
X | g.149483139A>G | CA519174107 | IDS | c.1260T>C (p.Pro420=) c.627T>C (p.Pro209=) n.367T>C c.990T>C (p.Pro330=) | |
X | g.149483139A>T | CA519174111 | IDS | c.1260T>A (p.Pro420=) c.627T>A (p.Pro209=) n.367T>A c.990T>A (p.Pro330=) | |
X | g.149483139_149483140delinsAG | CA2465004064 | IDS | c.1259_1260delinsCT (p.Pro420=) c.626_627delinsCT (p.Pro209=) n.366_367delinsCT c.989_990delinsCT (p.Pro330=) | |
X | g.149483140G>A | CA414518474 | IDS | c.1259C>T (p.Pro420Leu) c.626C>T (p.Pro209Leu) n.366C>T c.989C>T (p.Pro330Leu) | |
X | g.149483140G>C | CA414518475 | IDS | c.1259C>G (p.Pro420Arg) c.626C>G (p.Pro209Arg) n.366C>G c.989C>G (p.Pro330Arg) | |
X | g.149483140G= | CA2465004066 | IDS | c.1259C= (p.Pro420=) c.626C= (p.Pro209=) n.366C= c.989C= (p.Pro330=) | |
X | g.149483140G>T | CA337035533 | IDS | c.1259C>A (p.Pro420His) c.626C>A (p.Pro209His) n.366C>A c.989C>A (p.Pro330His) | dbSNP |
X | g.149483141del | CA2465004065 | IDS | c.1259del (p.Pro420LeufsTer20) c.626del (p.Pro209LeufsTer20) n.366del c.989del (p.Pro330LeufsTer20) | ClinVar dbSNP |
X | g.149483141G>A | CA414518476 | IDS | c.1258C>T (p.Pro420Ser) c.625C>T (p.Pro209Ser) n.365C>T c.988C>T (p.Pro330Ser) | |
X | g.149483141G>C | CA414518477 | IDS | c.1258C>G (p.Pro420Ala) c.625C>G (p.Pro209Ala) n.365C>G c.988C>G (p.Pro330Ala) | |
X | g.149483141G>T | CA414518478 | IDS | c.1258C>A (p.Pro420Thr) c.625C>A (p.Pro209Thr) n.365C>A c.988C>A (p.Pro330Thr) | |
X | g.149483142T>A | CA519174119 | IDS | c.1257A>T (p.Pro419=) c.624A>T (p.Pro208=) n.364A>T c.987A>T (p.Pro329=) | |
X | g.149483142T>C | CA10537472 | IDS | c.1257A>G (p.Pro419=) c.624A>G (p.Pro208=) n.364A>G c.987A>G (p.Pro329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483142T>G | CA519174122 | IDS | c.1257A>C (p.Pro419=) c.624A>C (p.Pro208=) n.364A>C c.987A>C (p.Pro329=) | |
X | g.149483142T= | CA2465004067 | IDS | c.1257A= (p.Pro419=) c.624A= (p.Pro208=) n.364A= c.987A= (p.Pro329=) | |
X | g.149483143G>A | CA414518480 | IDS | c.1256C>T (p.Pro419Leu) c.623C>T (p.Pro208Leu) n.363C>T c.986C>T (p.Pro329Leu) | |
X | g.149483143G>C | CA414518481 | IDS | c.1256C>G (p.Pro419Arg) c.623C>G (p.Pro208Arg) n.363C>G c.986C>G (p.Pro329Arg) | |
X | g.149483143G>T | CA414518479 | IDS | c.1256C>A (p.Pro419Gln) c.623C>A (p.Pro208Gln) n.363C>A c.986C>A (p.Pro329Gln) | |
X | g.149483144G>A | CA414518484 | IDS | c.1255C>T (p.Pro419Ser) c.622C>T (p.Pro208Ser) n.362C>T c.985C>T (p.Pro329Ser) | gnomAD v4 |
X | g.149483144G>C | CA414518482 | IDS | c.1255C>G (p.Pro419Ala) c.622C>G (p.Pro208Ala) n.362C>G c.985C>G (p.Pro329Ala) | |
X | g.149483144G>T | CA414518483 | IDS | c.1255C>A (p.Pro419Thr) c.622C>A (p.Pro208Thr) n.362C>A c.985C>A (p.Pro329Thr) | ClinVar |
X | g.149483145A= | CA2465004068 | IDS | c.1254T= (p.Val418=) c.621T= (p.Val207=) n.361T= c.984T= (p.Val328=) | |
X | g.149483145A>C | CA519174129 | IDS | c.1254T>G (p.Val418=) c.621T>G (p.Val207=) n.361T>G c.984T>G (p.Val328=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.149483145A>G | CA519174130 | IDS | c.1254T>C (p.Val418=) c.621T>C (p.Val207=) n.361T>C c.984T>C (p.Val328=) | COSMIC |
X | g.149483145A>T | CA519174131 | IDS | c.1254T>A (p.Val418=) c.621T>A (p.Val207=) n.361T>A c.984T>A (p.Val328=) | |
X | g.149483146del | CA2499226413 | IDS | c.1254del (p.Pro419HisfsTer21) c.621del (p.Pro208HisfsTer21) n.361del c.984del (p.Pro329HisfsTer21) | ClinVar dbSNP |
X | g.149483146A>C | CA414518485 | IDS | c.1253T>G (p.Val418Gly) c.620T>G (p.Val207Gly) n.360T>G c.983T>G (p.Val328Gly) | |
X | g.149483146A>G | CA414518486 | IDS | c.1253T>C (p.Val418Ala) c.620T>C (p.Val207Ala) n.360T>C c.983T>C (p.Val328Ala) | ClinVar |
X | g.149483146A>T | CA414518487 | IDS | c.1253T>A (p.Val418Asp) c.620T>A (p.Val207Asp) n.360T>A c.983T>A (p.Val328Asp) | |
X | g.149483147C>A | CA414518488 | IDS | c.1252G>T (p.Val418Phe) c.619G>T (p.Val207Phe) n.359G>T c.982G>T (p.Val328Phe) | |
X | g.149483147C>G | CA414518489 | IDS | c.1252G>C (p.Val418Leu) c.619G>C (p.Val207Leu) n.359G>C c.982G>C (p.Val328Leu) | |
X | g.149483147C>T | CA414518490 | IDS | c.1252G>A (p.Val418Ile) c.619G>A (p.Val207Ile) n.359G>A c.982G>A (p.Val328Ile) | |
X | g.149483148C>A | CA414518491 | IDS | c.1251G>T (p.Gln417His) c.618G>T (p.Gln206His) n.358G>T c.981G>T (p.Gln327His) | |
X | g.149483148C= | CA2465004069 | IDS | c.1251G= (p.Gln417=) c.618G= (p.Gln206=) n.358G= c.981G= (p.Gln327=) | |
X | g.149483148C>G | CA414518492 | IDS | c.1251G>C (p.Gln417His) c.618G>C (p.Gln206His) n.358G>C c.981G>C (p.Gln327His) | |
X | g.149483148C>T | CA519174139 | IDS | c.1251G>A (p.Gln417=) c.618G>A (p.Gln206=) n.358G>A c.981G>A (p.Gln327=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483149T>A | CA414518493 | IDS | c.1250A>T (p.Gln417Leu) c.617A>T (p.Gln206Leu) n.357A>T c.980A>T (p.Gln327Leu) | |
X | g.149483149T>C | CA414518494 | IDS | c.1250A>G (p.Gln417Arg) c.617A>G (p.Gln206Arg) n.357A>G c.980A>G (p.Gln327Arg) | gnomAD v4 |
X | g.149483149T>G | CA414518495 | IDS | c.1250A>C (p.Gln417Pro) c.617A>C (p.Gln206Pro) n.357A>C c.980A>C (p.Gln327Pro) | |
X | g.149483150_149483203dup | CA2838032002 | IDS | c.1197_1250dup (p.Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) c.564_617dup (p.Leu205_Gln206insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) n.304_357dup c.927_980dup (p.Leu326_Gln327insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu) | |
X | g.149483150G>A | CA414518496 | IDS | c.1249C>T (p.Gln417Ter) c.616C>T (p.Gln206Ter) n.356C>T c.979C>T (p.Gln327Ter) | ClinVar dbSNP |
X | g.149483150G>C | CA414518498 | IDS | c.1249C>G (p.Gln417Glu) c.616C>G (p.Gln206Glu) n.356C>G c.979C>G (p.Gln327Glu) | gnomAD v4 |
X | g.149483150G>T | CA414518497 | IDS | c.1249C>A (p.Gln417Lys) c.616C>A (p.Gln206Lys) n.356C>A c.979C>A (p.Gln327Lys) | |
X | g.149483151C>A | CA519174147 | IDS | c.1248G>T (p.Leu416=) c.615G>T (p.Leu205=) n.355G>T c.978G>T (p.Leu326=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.149483151C= | CA2465004070 | IDS | c.1248G= (p.Leu416=) c.615G= (p.Leu205=) n.355G= c.978G= (p.Leu326=) | |
X | g.149483151C>G | CA519174148 | IDS | c.1248G>C (p.Leu416=) c.615G>C (p.Leu205=) n.355G>C c.978G>C (p.Leu326=) | |
X | g.149483151C>T | CA519174150 | IDS | c.1248G>A (p.Leu416=) c.615G>A (p.Leu205=) n.355G>A c.978G>A (p.Leu326=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.149483152A= | CA2465004071 | IDS | c.1247T= (p.Leu416=) c.614T= (p.Leu205=) n.354T= c.977T= (p.Leu326=) | |
X | g.149483152A>C | CA414518499 | IDS | c.1247T>G (p.Leu416Arg) c.614T>G (p.Leu205Arg) n.354T>G c.977T>G (p.Leu326Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483152A>G | CA414518500 | IDS | c.1247T>C (p.Leu416Pro) c.614T>C (p.Leu205Pro) n.354T>C c.977T>C (p.Leu326Pro) | |
X | g.149483152A>T | CA414518501 | IDS | c.1247T>A (p.Leu416Gln) c.614T>A (p.Leu205Gln) n.354T>A c.977T>A (p.Leu326Gln) | |
X | g.149483153G>A | CA519174155 | IDS | c.1246C>T (p.Leu416=) c.613C>T (p.Leu205=) n.353C>T c.976C>T (p.Leu326=) | |
X | g.149483153G>C | CA414518502 | IDS | c.1246C>G (p.Leu416Val) c.613C>G (p.Leu205Val) n.353C>G c.976C>G (p.Leu326Val) | |
X | g.149483153G= | CA2465004072 | IDS | c.1246C= (p.Leu416=) c.613C= (p.Leu205=) n.353C= c.976C= (p.Leu326=) | |
X | g.149483153G>T | CA414518503 | IDS | c.1246C>A (p.Leu416Met) c.613C>A (p.Leu205Met) n.353C>A c.976C>A (p.Leu326Met) | |
X | g.149483154T>A | CA519174160 | IDS | c.1245A>T (p.Gly415=) c.612A>T (p.Gly204=) n.352A>T c.975A>T (p.Gly325=) | |
X | g.149483154T>C | CA519174162 | IDS | c.1245A>G (p.Gly415=) c.612A>G (p.Gly204=) n.352A>G c.975A>G (p.Gly325=) | |
X | g.149483154T>G | CA519174161 | IDS | c.1245A>C (p.Gly415=) c.612A>C (p.Gly204=) n.352A>C c.975A>C (p.Gly325=) | |
X | g.149483155_149483157dup | CA645127362 | IDS | c.1243_1245dup (p.Gly415_Leu416insGly) c.610_612dup (p.Gly204_Leu205insGly) n.350_352dup c.973_975dup (p.Gly325_Leu326insGly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.149483155C>A | CA414518504 | IDS | c.1244G>T (p.Gly415Val) c.611G>T (p.Gly204Val) n.351G>T c.974G>T (p.Gly325Val) | gnomAD v4 |
X | g.149483155C>G | CA414518505 | IDS | c.1244G>C (p.Gly415Ala) c.611G>C (p.Gly204Ala) n.351G>C c.974G>C (p.Gly325Ala) | |
X | g.149483155C>T | CA414518506 | IDS | c.1244G>A (p.Gly415Glu) c.611G>A (p.Gly204Glu) n.351G>A c.974G>A (p.Gly325Glu) | gnomAD v4 |
X | g.149483156C>A | CA414518507 | IDS | c.1243G>T (p.Gly415Ter) c.610G>T (p.Gly204Ter) n.350G>T c.973G>T (p.Gly325Ter) | |
X | g.149483156C>G | CA414518508 | IDS | c.1243G>C (p.Gly415Arg) c.610G>C (p.Gly204Arg) n.350G>C c.973G>C (p.Gly325Arg) | |
X | g.149483156C>T | CA414518509 | IDS | c.1243G>A (p.Gly415Arg) c.610G>A (p.Gly204Arg) n.350G>A c.973G>A (p.Gly325Arg) | |
X | g.149483157T>A | CA519174168 | IDS | c.1242A>T (p.Ala414=) c.609A>T (p.Ala203=) n.349A>T c.972A>T (p.Ala324=) | |
X | g.149483157T>C | CA519174170 | IDS | c.1242A>G (p.Ala414=) c.609A>G (p.Ala203=) n.349A>G c.972A>G (p.Ala324=) | |
X | g.149483157T>G | CA519174172 | IDS | c.1242A>C (p.Ala414=) c.609A>C (p.Ala203=) n.349A>C c.972A>C (p.Ala324=) | |
X | g.149483158G>A | CA414518511 | IDS | c.1241C>T (p.Ala414Val) c.608C>T (p.Ala203Val) n.348C>T c.971C>T (p.Ala324Val) | gnomAD v4 |
X | g.149483158G>C | CA414518512 | IDS | c.1241C>G (p.Ala414Gly) c.608C>G (p.Ala203Gly) n.348C>G c.971C>G (p.Ala324Gly) | |
X | g.149483158G>T | CA414518510 | IDS | c.1241C>A (p.Ala414Glu) c.608C>A (p.Ala203Glu) n.348C>A c.971C>A (p.Ala324Glu) | |
X | g.149483159C>A | CA414518513 | IDS | c.1240G>T (p.Ala414Ser) c.607G>T (p.Ala203Ser) n.347G>T c.970G>T (p.Ala324Ser) | |
X | g.149483159C= | CA2465004073 | IDS | c.1240G= (p.Ala414=) c.607G= (p.Ala203=) n.347G= c.970G= (p.Ala324=) | |
X | g.149483159C>G | CA414518514 | IDS | c.1240G>C (p.Ala414Pro) c.607G>C (p.Ala203Pro) n.347G>C c.970G>C (p.Ala324Pro) | |
X | g.149483159C>T | CA414518515 | IDS | c.1240G>A (p.Ala414Thr) c.607G>A (p.Ala203Thr) n.347G>A c.970G>A (p.Ala324Thr) | |
X | g.149483160A>C | CA519174183 | IDS | c.1239T>G (p.Leu413=) c.606T>G (p.Leu202=) n.346T>G c.969T>G (p.Leu323=) | |
X | g.149483160A>G | CA519174185 | IDS | c.1239T>C (p.Leu413=) c.606T>C (p.Leu202=) n.346T>C c.969T>C (p.Leu323=) | |
X | g.149483160A>T | CA519174184 | IDS | c.1239T>A (p.Leu413=) c.606T>A (p.Leu202=) n.346T>A c.969T>A (p.Leu323=) | |
X | g.149483160_149483161insGA | CA2465004074 | IDS | c.1239_1240insCT (p.Ala414LeufsTer27) c.606_607insCT (p.Ala203LeufsTer27) n.346_347insCT c.969_970insCT (p.Ala324LeufsTer27) | ClinVar dbSNP |
X | g.149483161A>C | CA414518516 | IDS | c.1238T>G (p.Leu413Arg) c.605T>G (p.Leu202Arg) n.345T>G c.968T>G (p.Leu323Arg) | gnomAD v4 |
X | g.149483161A>G | CA414518517 | IDS | c.1238T>C (p.Leu413Pro) c.605T>C (p.Leu202Pro) n.345T>C c.968T>C (p.Leu323Pro) | |
X | g.149483161A>T | CA414518518 | IDS | c.1238T>A (p.Leu413His) c.605T>A (p.Leu202His) n.345T>A c.968T>A (p.Leu323His) | |
X | g.149483162G>A | CA414518519 | IDS | c.1237C>T (p.Leu413Phe) c.604C>T (p.Leu202Phe) n.344C>T c.967C>T (p.Leu323Phe) | |
X | g.149483162G>C | CA414518520 | IDS | c.1237C>G (p.Leu413Val) c.604C>G (p.Leu202Val) n.344C>G c.967C>G (p.Leu323Val) | |
X | g.149483162G>T | CA414518521 | IDS | c.1237C>A (p.Leu413Ile) c.604C>A (p.Leu202Ile) n.344C>A c.967C>A (p.Leu323Ile) | |
X | g.149483163T>A | CA519174192 | IDS | c.1236A>T (p.Gly412=) c.603A>T (p.Gly201=) n.343A>T c.966A>T (p.Gly322=) | |
X | g.149483163T>C | CA10537473 | IDS | c.1236A>G (p.Gly412=) c.603A>G (p.Gly201=) n.343A>G c.966A>G (p.Gly322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.149483163T>G | CA519174195 | IDS | c.1236A>C (p.Gly412=) c.603A>C (p.Gly201=) n.343A>C c.966A>C (p.Gly322=) | |
X | g.149483163T= | CA2465004075 | IDS | c.1236A= (p.Gly412=) c.603A= (p.Gly201=) n.343A= c.966A= (p.Gly322=) | |
X | g.149483164C>A | CA414518522 | IDS | c.1235G>T (p.Gly412Val) c.602G>T (p.Gly201Val) n.342G>T c.965G>T (p.Gly322Val) | |
X | g.149483164C>G | CA414518523 | IDS | c.1235G>C (p.Gly412Ala) c.602G>C (p.Gly201Ala) n.342G>C c.965G>C (p.Gly322Ala) | |
X | g.149483164C>T | CA414518524 | IDS | c.1235G>A (p.Gly412Glu) c.602G>A (p.Gly201Glu) n.342G>A c.965G>A (p.Gly322Glu) | |
X | g.149483165C>A | CA414518526 | IDS | c.1234G>T (p.Gly412Ter) c.601G>T (p.Gly201Ter) n.341G>T c.964G>T (p.Gly322Ter) | ClinVar dbSNP |
X | g.149483165C= | CA2465004076 | IDS | c.1234G= (p.Gly412=) c.601G= (p.Gly201=) n.341G= c.964G= (p.Gly322=) | |
X | g.149483165C>G | CA414518527 | IDS | c.1234G>C (p.Gly412Arg) c.601G>C (p.Gly201Arg) n.341G>C c.964G>C (p.Gly322Arg) | |
X | g.149483165C>T | CA414518525 | IDS | c.1234G>A (p.Gly412Arg) c.601G>A (p.Gly201Arg) n.341G>A c.964G>A (p.Gly322Arg) | |
X | g.149483166A>C | CA519174202 | IDS | c.1233T>G (p.Ala411=) c.600T>G (p.Ala200=) n.340T>G c.963T>G (p.Ala321=) | |
X | g.149483166A>G | CA519174203 | IDS | c.1233T>C (p.Ala411=) c.600T>C (p.Ala200=) n.340T>C c.963T>C (p.Ala321=) | gnomAD v4 |
X | g.149483166A>T | CA519174204 | IDS | c.1233T>A (p.Ala411=) c.600T>A (p.Ala200=) n.340T>A c.963T>A (p.Ala321=) | |
X | g.149483167G>A | CA414518528 | IDS | c.1232C>T (p.Ala411Val) c.599C>T (p.Ala200Val) n.339C>T c.962C>T (p.Ala321Val) | |
X | g.149483167G>C | CA414518529 | IDS | c.1232C>G (p.Ala411Gly) c.599C>G (p.Ala200Gly) n.339C>G c.962C>G (p.Ala321Gly) | |
X | g.149483167G>T | CA414518530 | IDS | c.1232C>A (p.Ala411Asp) c.599C>A (p.Ala200Asp) n.339C>A c.962C>A (p.Ala321Asp) | gnomAD v4 |
X | g.149483168C>A | CA414518531 | IDS | c.1231G>T (p.Ala411Ser) c.598G>T (p.Ala200Ser) n.338G>T c.961G>T (p.Ala321Ser) | |
X | g.149483168C>G | CA414518532 | IDS | c.1231G>C (p.Ala411Pro) c.598G>C (p.Ala200Pro) n.338G>C c.961G>C (p.Ala321Pro) | |
X | g.149483168C>T | CA414518533 | IDS | c.1231G>A (p.Ala411Thr) c.598G>A (p.Ala200Thr) n.338G>A c.961G>A (p.Ala321Thr) | |
X | g.149483169C>A | CA519174209 | IDS | c.1230G>T (p.Leu410=) c.597G>T (p.Leu199=) n.337G>T c.960G>T (p.Leu320=) | |
X | g.149483169C>G | CA519174207 | IDS | c.1230G>C (p.Leu410=) c.597G>C (p.Leu199=) n.337G>C c.960G>C (p.Leu320=) | |
X | g.149483169C>T | CA519174208 | IDS | c.1230G>A (p.Leu410=) c.597G>A (p.Leu199=) n.337G>A c.960G>A (p.Leu320=) | |
X | g.149483170del | CA2838032003 | IDS | c.1229del (p.Leu410ArgfsTer30) c.596del (p.Leu199ArgfsTer30) n.336del c.959del (p.Leu320ArgfsTer30) | |
X | g.149483170A>C | CA414518536 | IDS | c.1229T>G (p.Leu410Arg) c.596T>G (p.Leu199Arg) n.336T>G c.959T>G (p.Leu320Arg) | |
X | g.149483170A>G | CA414518534 | IDS | c.1229T>C (p.Leu410Pro) c.596T>C (p.Leu199Pro) n.336T>C c.959T>C (p.Leu320Pro) | |
X | g.149483170A>T | CA414518535 | IDS | c.1229T>A (p.Leu410Gln) c.596T>A (p.Leu199Gln) n.336T>A c.959T>A (p.Leu320Gln) | |
X | g.149483170dup | CA2695236537 | IDS | c.1229dup (p.Ala411GlyfsTer20) c.596dup (p.Ala200GlyfsTer20) n.336dup c.959dup (p.Ala321GlyfsTer20) |