Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7117145T>A | CA403668388 | INSR | c.4060A>T (p.Ser1354Cys) c.4024A>T (p.Ser1342Cys) c.4135A>T (p.Ser1379Cys) c.4099A>T (p.Ser1367Cys) c.4057A>T (p.Ser1353Cys) c.4021A>T (p.Ser1341Cys) | |
19 | g.7117145T>C | CA403668389 | INSR | c.4060A>G (p.Ser1354Gly) c.4024A>G (p.Ser1342Gly) c.4135A>G (p.Ser1379Gly) c.4099A>G (p.Ser1367Gly) c.4057A>G (p.Ser1353Gly) c.4021A>G (p.Ser1341Gly) | |
19 | g.7117145T>G | CA403668390 | INSR | c.4060A>C (p.Ser1354Arg) c.4024A>C (p.Ser1342Arg) c.4135A>C (p.Ser1379Arg) c.4099A>C (p.Ser1367Arg) c.4057A>C (p.Ser1353Arg) c.4021A>C (p.Ser1341Arg) | |
19 | g.7117146C>A | CA505400016 | INSR | c.4059G>T (p.Arg1353=) c.4023G>T (p.Arg1341=) c.4134G>T (p.Arg1378=) c.4098G>T (p.Arg1366=) c.4056G>T (p.Arg1352=) c.4020G>T (p.Arg1340=) | |
19 | g.7117146C= | CA2320764131 | INSR | c.4059G= (p.Arg1353=) c.4023G= (p.Arg1341=) c.4134G= (p.Arg1378=) c.4098G= (p.Arg1366=) c.4056G= (p.Arg1352=) c.4020G= (p.Arg1340=) | |
19 | g.7117146C>G | CA505400017 | INSR | c.4059G>C (p.Arg1353=) c.4023G>C (p.Arg1341=) c.4134G>C (p.Arg1378=) c.4098G>C (p.Arg1366=) c.4056G>C (p.Arg1352=) c.4020G>C (p.Arg1340=) | |
19 | g.7117146C>T | CA505400018 | INSR | c.4059G>A (p.Arg1353=) c.4023G>A (p.Arg1341=) c.4134G>A (p.Arg1378=) c.4098G>A (p.Arg1366=) c.4056G>A (p.Arg1352=) c.4020G>A (p.Arg1340=) | dbSNP gnomAD v4 |
19 | g.7117147C>A | CA403668392 | INSR | c.4058G>T (p.Arg1353Leu) c.4022G>T (p.Arg1341Leu) c.4133G>T (p.Arg1378Leu) c.4097G>T (p.Arg1366Leu) c.4055G>T (p.Arg1352Leu) c.4019G>T (p.Arg1340Leu) | |
19 | g.7117147C= | CA2320764135 | INSR | c.4058G= (p.Arg1353=) c.4022G= (p.Arg1341=) c.4133G= (p.Arg1378=) c.4097G= (p.Arg1366=) c.4055G= (p.Arg1352=) c.4019G= (p.Arg1340=) | |
19 | g.7117147C>G | CA403668391 | INSR | c.4058G>C (p.Arg1353Pro) c.4022G>C (p.Arg1341Pro) c.4133G>C (p.Arg1378Pro) c.4097G>C (p.Arg1366Pro) c.4055G>C (p.Arg1352Pro) c.4019G>C (p.Arg1340Pro) | |
19 | g.7117147C>T | CA9135098 | INSR | c.4058G>A (p.Arg1353Gln) c.4022G>A (p.Arg1341Gln) c.4133G>A (p.Arg1378Gln) c.4097G>A (p.Arg1366Gln) c.4055G>A (p.Arg1352Gln) c.4019G>A (p.Arg1340Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117148G>A | CA9135099 | INSR | c.4057C>T (p.Arg1353Trp) c.4021C>T (p.Arg1341Trp) c.4132C>T (p.Arg1378Trp) c.4096C>T (p.Arg1366Trp) c.4054C>T (p.Arg1352Trp) c.4018C>T (p.Arg1340Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117148G>C | CA403668393 | INSR | c.4057C>G (p.Arg1353Gly) c.4021C>G (p.Arg1341Gly) c.4132C>G (p.Arg1378Gly) c.4096C>G (p.Arg1366Gly) c.4054C>G (p.Arg1352Gly) c.4018C>G (p.Arg1340Gly) | |
19 | g.7117148G= | CA2320764138 | INSR | c.4057C= (p.Arg1353=) c.4021C= (p.Arg1341=) c.4132C= (p.Arg1378=) c.4096C= (p.Arg1366=) c.4054C= (p.Arg1352=) c.4018C= (p.Arg1340=) | |
19 | g.7117148G>T | CA505400019 | INSR | c.4057C>A (p.Arg1353=) c.4021C>A (p.Arg1341=) c.4132C>A (p.Arg1378=) c.4096C>A (p.Arg1366=) c.4054C>A (p.Arg1352=) c.4018C>A (p.Arg1340=) | gnomAD v4 |
19 | g.7117149C>A | CA403668394 | INSR | c.4056G>T (p.Lys1352Asn) c.4020G>T (p.Lys1340Asn) c.4131G>T (p.Lys1377Asn) c.4095G>T (p.Lys1365Asn) c.4053G>T (p.Lys1351Asn) c.4017G>T (p.Lys1339Asn) | |
19 | g.7117149C>G | CA403668395 | INSR | c.4056G>C (p.Lys1352Asn) c.4020G>C (p.Lys1340Asn) c.4131G>C (p.Lys1377Asn) c.4095G>C (p.Lys1365Asn) c.4053G>C (p.Lys1351Asn) c.4017G>C (p.Lys1339Asn) | |
19 | g.7117149C>T | CA505400020 | INSR | c.4056G>A (p.Lys1352=) c.4020G>A (p.Lys1340=) c.4131G>A (p.Lys1377=) c.4095G>A (p.Lys1365=) c.4053G>A (p.Lys1351=) c.4017G>A (p.Lys1339=) | |
19 | g.7117150T>A | CA403668396 | INSR | c.4055A>T (p.Lys1352Met) c.4019A>T (p.Lys1340Met) c.4130A>T (p.Lys1377Met) c.4094A>T (p.Lys1365Met) c.4052A>T (p.Lys1351Met) c.4016A>T (p.Lys1339Met) | |
19 | g.7117150T>C | CA403668397 | INSR | c.4055A>G (p.Lys1352Arg) c.4019A>G (p.Lys1340Arg) c.4130A>G (p.Lys1377Arg) c.4094A>G (p.Lys1365Arg) c.4052A>G (p.Lys1351Arg) c.4016A>G (p.Lys1339Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117150T>G | CA403668398 | INSR | c.4055A>C (p.Lys1352Thr) c.4019A>C (p.Lys1340Thr) c.4130A>C (p.Lys1377Thr) c.4094A>C (p.Lys1365Thr) c.4052A>C (p.Lys1351Thr) c.4016A>C (p.Lys1339Thr) | |
19 | g.7117150T= | CA2320764140 | INSR | c.4055A= (p.Lys1352=) c.4019A= (p.Lys1340=) c.4130A= (p.Lys1377=) c.4094A= (p.Lys1365=) c.4052A= (p.Lys1351=) c.4016A= (p.Lys1339=) | |
19 | g.7117151T>A | CA403668401 | INSR | c.4054A>T (p.Lys1352Ter) c.4018A>T (p.Lys1340Ter) c.4129A>T (p.Lys1377Ter) c.4093A>T (p.Lys1365Ter) c.4051A>T (p.Lys1351Ter) c.4015A>T (p.Lys1339Ter) | |
19 | g.7117151T>C | CA403668399 | INSR | c.4054A>G (p.Lys1352Glu) c.4018A>G (p.Lys1340Glu) c.4129A>G (p.Lys1377Glu) c.4093A>G (p.Lys1365Glu) c.4051A>G (p.Lys1351Glu) c.4015A>G (p.Lys1339Glu) | |
19 | g.7117151T>G | CA403668400 | INSR | c.4054A>C (p.Lys1352Gln) c.4018A>C (p.Lys1340Gln) c.4129A>C (p.Lys1377Gln) c.4093A>C (p.Lys1365Gln) c.4051A>C (p.Lys1351Gln) c.4015A>C (p.Lys1339Gln) | |
19 | g.7117152G>A | CA505400021 | INSR | c.4053C>T (p.Phe1351=) c.4017C>T (p.Phe1339=) c.4128C>T (p.Phe1376=) c.4092C>T (p.Phe1364=) c.4050C>T (p.Phe1350=) c.4014C>T (p.Phe1338=) | |
19 | g.7117152G>C | CA403668402 | INSR | c.4053C>G (p.Phe1351Leu) c.4017C>G (p.Phe1339Leu) c.4128C>G (p.Phe1376Leu) c.4092C>G (p.Phe1364Leu) c.4050C>G (p.Phe1350Leu) c.4014C>G (p.Phe1338Leu) | |
19 | g.7117152G>T | CA403668403 | INSR | c.4053C>A (p.Phe1351Leu) c.4017C>A (p.Phe1339Leu) c.4128C>A (p.Phe1376Leu) c.4092C>A (p.Phe1364Leu) c.4050C>A (p.Phe1350Leu) c.4014C>A (p.Phe1338Leu) | |
19 | g.7117153A>C | CA403668404 | INSR | c.4052T>G (p.Phe1351Cys) c.4016T>G (p.Phe1339Cys) c.4127T>G (p.Phe1376Cys) c.4091T>G (p.Phe1364Cys) c.4049T>G (p.Phe1350Cys) c.4013T>G (p.Phe1338Cys) | gnomAD v4 |
19 | g.7117153A>G | CA403668405 | INSR | c.4052T>C (p.Phe1351Ser) c.4016T>C (p.Phe1339Ser) c.4127T>C (p.Phe1376Ser) c.4091T>C (p.Phe1364Ser) c.4049T>C (p.Phe1350Ser) c.4013T>C (p.Phe1338Ser) | gnomAD v4 |
19 | g.7117153A>T | CA403668406 | INSR | c.4052T>A (p.Phe1351Tyr) c.4016T>A (p.Phe1339Tyr) c.4127T>A (p.Phe1376Tyr) c.4091T>A (p.Phe1364Tyr) c.4049T>A (p.Phe1350Tyr) c.4013T>A (p.Phe1338Tyr) | |
19 | g.7117154A>C | CA403668407 | INSR | c.4051T>G (p.Phe1351Val) c.4015T>G (p.Phe1339Val) c.4126T>G (p.Phe1376Val) c.4090T>G (p.Phe1364Val) c.4048T>G (p.Phe1350Val) c.4012T>G (p.Phe1338Val) | |
19 | g.7117154A>G | CA403668409 | INSR | c.4051T>C (p.Phe1351Leu) c.4015T>C (p.Phe1339Leu) c.4126T>C (p.Phe1376Leu) c.4090T>C (p.Phe1364Leu) c.4048T>C (p.Phe1350Leu) c.4012T>C (p.Phe1338Leu) | |
19 | g.7117154A>T | CA403668408 | INSR | c.4051T>A (p.Phe1351Ile) c.4015T>A (p.Phe1339Ile) c.4126T>A (p.Phe1376Ile) c.4090T>A (p.Phe1364Ile) c.4048T>A (p.Phe1350Ile) c.4012T>A (p.Phe1338Ile) | |
19 | g.7117155A>C | CA505400022 | INSR | c.4050T>G (p.Gly1350=) c.4014T>G (p.Gly1338=) c.4125T>G (p.Gly1375=) c.4089T>G (p.Gly1363=) c.4047T>G (p.Gly1349=) c.4011T>G (p.Gly1337=) | |
19 | g.7117155A>G | CA505400023 | INSR | c.4050T>C (p.Gly1350=) c.4014T>C (p.Gly1338=) c.4125T>C (p.Gly1375=) c.4089T>C (p.Gly1363=) c.4047T>C (p.Gly1349=) c.4011T>C (p.Gly1337=) | |
19 | g.7117155A>T | CA505400024 | INSR | c.4050T>A (p.Gly1350=) c.4014T>A (p.Gly1338=) c.4125T>A (p.Gly1375=) c.4089T>A (p.Gly1363=) c.4047T>A (p.Gly1349=) c.4011T>A (p.Gly1337=) | |
19 | g.7117156C>A | CA403668410 | INSR | c.4049G>T (p.Gly1350Val) c.4013G>T (p.Gly1338Val) c.4124G>T (p.Gly1375Val) c.4088G>T (p.Gly1363Val) c.4046G>T (p.Gly1349Val) c.4010G>T (p.Gly1337Val) | |
19 | g.7117156C>G | CA403668411 | INSR | c.4049G>C (p.Gly1350Ala) c.4013G>C (p.Gly1338Ala) c.4124G>C (p.Gly1375Ala) c.4088G>C (p.Gly1363Ala) c.4046G>C (p.Gly1349Ala) c.4010G>C (p.Gly1337Ala) | |
19 | g.7117156C>T | CA403668412 | INSR | c.4049G>A (p.Gly1350Asp) c.4013G>A (p.Gly1338Asp) c.4124G>A (p.Gly1375Asp) c.4088G>A (p.Gly1363Asp) c.4046G>A (p.Gly1349Asp) c.4010G>A (p.Gly1337Asp) | ClinVar |
19 | g.7117157C>A | CA403668413 | INSR | c.4048G>T (p.Gly1350Cys) c.4012G>T (p.Gly1338Cys) c.4123G>T (p.Gly1375Cys) c.4087G>T (p.Gly1363Cys) c.4045G>T (p.Gly1349Cys) c.4009G>T (p.Gly1337Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117157C= | CA2320764143 | INSR | c.4048G= (p.Gly1350=) c.4012G= (p.Gly1338=) c.4123G= (p.Gly1375=) c.4087G= (p.Gly1363=) c.4045G= (p.Gly1349=) c.4009G= (p.Gly1337=) | |
19 | g.7117157C>G | CA403668414 | INSR | c.4048G>C (p.Gly1350Arg) c.4012G>C (p.Gly1338Arg) c.4123G>C (p.Gly1375Arg) c.4087G>C (p.Gly1363Arg) c.4045G>C (p.Gly1349Arg) c.4009G>C (p.Gly1337Arg) | |
19 | g.7117157C>T | CA403668415 | INSR | c.4048G>A (p.Gly1350Ser) c.4012G>A (p.Gly1338Ser) c.4123G>A (p.Gly1375Ser) c.4087G>A (p.Gly1363Ser) c.4045G>A (p.Gly1349Ser) c.4009G>A (p.Gly1337Ser) | |
19 | g.7117158C>A | CA505400025 | INSR | c.4047G>T (p.Leu1349=) c.4011G>T (p.Leu1337=) c.4122G>T (p.Leu1374=) c.4086G>T (p.Leu1362=) c.4044G>T (p.Leu1348=) c.4008G>T (p.Leu1336=) | |
19 | g.7117158C>G | CA505400026 | INSR | c.4047G>C (p.Leu1349=) c.4011G>C (p.Leu1337=) c.4122G>C (p.Leu1374=) c.4086G>C (p.Leu1362=) c.4044G>C (p.Leu1348=) c.4008G>C (p.Leu1336=) | |
19 | g.7117158C>T | CA505400027 | INSR | c.4047G>A (p.Leu1349=) c.4011G>A (p.Leu1337=) c.4122G>A (p.Leu1374=) c.4086G>A (p.Leu1362=) c.4044G>A (p.Leu1348=) c.4008G>A (p.Leu1336=) | dbSNP |
19 | g.7117159A= | CA2320764144 | INSR | c.4046T= (p.Leu1349=) c.4010T= (p.Leu1337=) c.4121T= (p.Leu1374=) c.4085T= (p.Leu1362=) c.4043T= (p.Leu1348=) c.4007T= (p.Leu1336=) | |
19 | g.7117159A>C | CA403668416 | INSR | c.4046T>G (p.Leu1349Arg) c.4010T>G (p.Leu1337Arg) c.4121T>G (p.Leu1374Arg) c.4085T>G (p.Leu1362Arg) c.4043T>G (p.Leu1348Arg) c.4007T>G (p.Leu1336Arg) | |
19 | g.7117159A>G | CA304866410 | INSR | c.4046T>C (p.Leu1349Pro) c.4010T>C (p.Leu1337Pro) c.4121T>C (p.Leu1374Pro) c.4085T>C (p.Leu1362Pro) c.4043T>C (p.Leu1348Pro) c.4007T>C (p.Leu1336Pro) | dbSNP gnomAD v4 |
19 | g.7117159A>T | CA403668417 | INSR | c.4046T>A (p.Leu1349Gln) c.4010T>A (p.Leu1337Gln) c.4121T>A (p.Leu1374Gln) c.4085T>A (p.Leu1362Gln) c.4043T>A (p.Leu1348Gln) c.4007T>A (p.Leu1336Gln) | |
19 | g.7117160G>A | CA505400028 | INSR | c.4045C>T (p.Leu1349=) c.4009C>T (p.Leu1337=) c.4120C>T (p.Leu1374=) c.4084C>T (p.Leu1362=) c.4042C>T (p.Leu1348=) c.4006C>T (p.Leu1336=) | |
19 | g.7117160G>C | CA403668418 | INSR | c.4045C>G (p.Leu1349Val) c.4009C>G (p.Leu1337Val) c.4120C>G (p.Leu1374Val) c.4084C>G (p.Leu1362Val) c.4042C>G (p.Leu1348Val) c.4006C>G (p.Leu1336Val) | gnomAD v4 |
19 | g.7117160G>T | CA403668419 | INSR | c.4045C>A (p.Leu1349Met) c.4009C>A (p.Leu1337Met) c.4120C>A (p.Leu1374Met) c.4084C>A (p.Leu1362Met) c.4042C>A (p.Leu1348Met) c.4006C>A (p.Leu1336Met) | |
19 | g.7117161C>A | CA505400029 | INSR | c.4044G>T (p.Ser1348=) c.4008G>T (p.Ser1336=) c.4119G>T (p.Ser1373=) c.4083G>T (p.Ser1361=) c.4041G>T (p.Ser1347=) c.4005G>T (p.Ser1335=) | dbSNP gnomAD v4 |
19 | g.7117161C= | CA2320763682 | INSR | c.4044G= (p.Ser1348=) c.4008G= (p.Ser1336=) c.4119G= (p.Ser1373=) c.4083G= (p.Ser1361=) c.4041G= (p.Ser1347=) c.4005G= (p.Ser1335=) | |
19 | g.7117161C>G | CA505400030 | INSR | c.4044G>C (p.Ser1348=) c.4008G>C (p.Ser1336=) c.4119G>C (p.Ser1373=) c.4083G>C (p.Ser1361=) c.4041G>C (p.Ser1347=) c.4005G>C (p.Ser1335=) | ClinVar dbSNP |
19 | g.7117161C>T | CA304866415 | INSR | c.4044G>A (p.Ser1348=) c.4008G>A (p.Ser1336=) c.4119G>A (p.Ser1373=) c.4083G>A (p.Ser1361=) c.4041G>A (p.Ser1347=) c.4005G>A (p.Ser1335=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117162G>A | CA9135100 | INSR | c.4043C>T (p.Ser1348Leu) c.4007C>T (p.Ser1336Leu) c.4118C>T (p.Ser1373Leu) c.4082C>T (p.Ser1361Leu) c.4040C>T (p.Ser1347Leu) c.4004C>T (p.Ser1335Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117162G>C | CA403668421 | INSR | c.4043C>G (p.Ser1348Trp) c.4007C>G (p.Ser1336Trp) c.4118C>G (p.Ser1373Trp) c.4082C>G (p.Ser1361Trp) c.4040C>G (p.Ser1347Trp) c.4004C>G (p.Ser1335Trp) | |
19 | g.7117162G= | CA2320763683 | INSR | c.4043C= (p.Ser1348=) c.4007C= (p.Ser1336=) c.4118C= (p.Ser1373=) c.4082C= (p.Ser1361=) c.4040C= (p.Ser1347=) c.4004C= (p.Ser1335=) | |
19 | g.7117162G>T | CA403668420 | INSR | c.4043C>A (p.Ser1348Ter) c.4007C>A (p.Ser1336Ter) c.4118C>A (p.Ser1373Ter) c.4082C>A (p.Ser1361Ter) c.4040C>A (p.Ser1347Ter) c.4004C>A (p.Ser1335Ter) | |
19 | g.7117163del | CA2813449715 | INSR | c.4042del (p.Ser1348ArgfsTer17) c.4006del (p.Ser1336ArgfsTer17) c.4117del (p.Ser1373ArgfsTer17) c.4081del (p.Ser1361ArgfsTer17) c.4039del (p.Ser1347ArgfsTer17) c.4003del (p.Ser1335ArgfsTer17) | |
19 | g.7117163A= | CA2320763684 | INSR | c.4042T= (p.Ser1348=) c.4006T= (p.Ser1336=) c.4117T= (p.Ser1373=) c.4081T= (p.Ser1361=) c.4039T= (p.Ser1347=) c.4003T= (p.Ser1335=) | |
19 | g.7117163A>C | CA403668422 | INSR | c.4042T>G (p.Ser1348Ala) c.4006T>G (p.Ser1336Ala) c.4117T>G (p.Ser1373Ala) c.4081T>G (p.Ser1361Ala) c.4039T>G (p.Ser1347Ala) c.4003T>G (p.Ser1335Ala) | |
19 | g.7117163A>G | CA403668423 | INSR | c.4042T>C (p.Ser1348Pro) c.4006T>C (p.Ser1336Pro) c.4117T>C (p.Ser1373Pro) c.4081T>C (p.Ser1361Pro) c.4039T>C (p.Ser1347Pro) c.4003T>C (p.Ser1335Pro) | |
19 | g.7117163A>T | CA403668424 | INSR | c.4042T>A (p.Ser1348Thr) c.4006T>A (p.Ser1336Thr) c.4117T>A (p.Ser1373Thr) c.4081T>A (p.Ser1361Thr) c.4039T>A (p.Ser1347Thr) c.4003T>A (p.Ser1335Thr) | |
19 | g.7117164G>A | CA505400031 | INSR | c.4041C>T (p.Ser1347=) c.4005C>T (p.Ser1335=) c.4116C>T (p.Ser1372=) c.4080C>T (p.Ser1360=) c.4038C>T (p.Ser1346=) c.4002C>T (p.Ser1334=) | gnomAD v4 |
19 | g.7117164G>C | CA505400032 | INSR | c.4041C>G (p.Ser1347=) c.4005C>G (p.Ser1335=) c.4116C>G (p.Ser1372=) c.4080C>G (p.Ser1360=) c.4038C>G (p.Ser1346=) c.4002C>G (p.Ser1334=) | gnomAD v4 |
19 | g.7117164G>T | CA505400033 | INSR | c.4041C>A (p.Ser1347=) c.4005C>A (p.Ser1335=) c.4116C>A (p.Ser1372=) c.4080C>A (p.Ser1360=) c.4038C>A (p.Ser1346=) c.4002C>A (p.Ser1334=) | |
19 | g.7117164_7117165dup | CA920049001 | INSR | c.4040_4041dup (p.Ser1348ProfsTer18) c.4004_4005dup (p.Ser1336ProfsTer18) c.4115_4116dup (p.Ser1373ProfsTer18) c.4079_4080dup (p.Ser1361ProfsTer18) c.4037_4038dup (p.Ser1347ProfsTer18) c.4001_4002dup (p.Ser1335ProfsTer18) | dbSNP gnomAD v4 |
19 | g.7117165G>A | CA403668425 | INSR | c.4040C>T (p.Ser1347Phe) c.4004C>T (p.Ser1335Phe) c.4115C>T (p.Ser1372Phe) c.4079C>T (p.Ser1360Phe) c.4037C>T (p.Ser1346Phe) c.4001C>T (p.Ser1334Phe) | |
19 | g.7117165G>C | CA403668426 | INSR | c.4040C>G (p.Ser1347Cys) c.4004C>G (p.Ser1335Cys) c.4115C>G (p.Ser1372Cys) c.4079C>G (p.Ser1360Cys) c.4037C>G (p.Ser1346Cys) c.4001C>G (p.Ser1334Cys) | |
19 | g.7117165G>T | CA403668427 | INSR | c.4040C>A (p.Ser1347Tyr) c.4004C>A (p.Ser1335Tyr) c.4115C>A (p.Ser1372Tyr) c.4079C>A (p.Ser1360Tyr) c.4037C>A (p.Ser1346Tyr) c.4001C>A (p.Ser1334Tyr) | |
19 | g.7117166A>C | CA403668428 | INSR | c.4039T>G (p.Ser1347Ala) c.4003T>G (p.Ser1335Ala) c.4114T>G (p.Ser1372Ala) c.4078T>G (p.Ser1360Ala) c.4036T>G (p.Ser1346Ala) c.4000T>G (p.Ser1334Ala) | |
19 | g.7117166A>G | CA403668429 | INSR | c.4039T>C (p.Ser1347Pro) c.4003T>C (p.Ser1335Pro) c.4114T>C (p.Ser1372Pro) c.4078T>C (p.Ser1360Pro) c.4036T>C (p.Ser1346Pro) c.4000T>C (p.Ser1334Pro) | |
19 | g.7117166A>T | CA403668430 | INSR | c.4039T>A (p.Ser1347Thr) c.4003T>A (p.Ser1335Thr) c.4114T>A (p.Ser1372Thr) c.4078T>A (p.Ser1360Thr) c.4036T>A (p.Ser1346Thr) c.4000T>A (p.Ser1334Thr) | |
19 | g.7117167C>A | CA505400034 | INSR | c.4038G>T (p.Gly1346=) c.4002G>T (p.Gly1334=) c.4113G>T (p.Gly1371=) c.4077G>T (p.Gly1359=) c.4035G>T (p.Gly1345=) c.3999G>T (p.Gly1333=) | |
19 | g.7117167C= | CA2320763685 | INSR | c.4038G= (p.Gly1346=) c.4002G= (p.Gly1334=) c.4113G= (p.Gly1371=) c.4077G= (p.Gly1359=) c.4035G= (p.Gly1345=) c.3999G= (p.Gly1333=) | |
19 | g.7117167C>G | CA505400035 | INSR | c.4038G>C (p.Gly1346=) c.4002G>C (p.Gly1334=) c.4113G>C (p.Gly1371=) c.4077G>C (p.Gly1359=) c.4035G>C (p.Gly1345=) c.3999G>C (p.Gly1333=) | |
19 | g.7117167C>T | CA505400036 | INSR | c.4038G>A (p.Gly1346=) c.4002G>A (p.Gly1334=) c.4113G>A (p.Gly1371=) c.4077G>A (p.Gly1359=) c.4035G>A (p.Gly1345=) c.3999G>A (p.Gly1333=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117168C>A | CA403668431 | INSR | c.4037G>T (p.Gly1346Val) c.4001G>T (p.Gly1334Val) c.4112G>T (p.Gly1371Val) c.4076G>T (p.Gly1359Val) c.4034G>T (p.Gly1345Val) c.3998G>T (p.Gly1333Val) | |
19 | g.7117168C>G | CA403668432 | INSR | c.4037G>C (p.Gly1346Ala) c.4001G>C (p.Gly1334Ala) c.4112G>C (p.Gly1371Ala) c.4076G>C (p.Gly1359Ala) c.4034G>C (p.Gly1345Ala) c.3998G>C (p.Gly1333Ala) | |
19 | g.7117168C>T | CA403668433 | INSR | c.4037G>A (p.Gly1346Glu) c.4001G>A (p.Gly1334Glu) c.4112G>A (p.Gly1371Glu) c.4076G>A (p.Gly1359Glu) c.4034G>A (p.Gly1345Glu) c.3998G>A (p.Gly1333Glu) | COSMIC |
19 | g.7117169C>A | CA403668436 | INSR | c.4036G>T (p.Gly1346Trp) c.4000G>T (p.Gly1334Trp) c.4111G>T (p.Gly1371Trp) c.4075G>T (p.Gly1359Trp) c.4033G>T (p.Gly1345Trp) c.3997G>T (p.Gly1333Trp) | |
19 | g.7117169C>G | CA403668434 | INSR | c.4036G>C (p.Gly1346Arg) c.4000G>C (p.Gly1334Arg) c.4111G>C (p.Gly1371Arg) c.4075G>C (p.Gly1359Arg) c.4033G>C (p.Gly1345Arg) c.3997G>C (p.Gly1333Arg) | |
19 | g.7117169C>T | CA403668435 | INSR | c.4036G>A (p.Gly1346Arg) c.4000G>A (p.Gly1334Arg) c.4111G>A (p.Gly1371Arg) c.4075G>A (p.Gly1359Arg) c.4033G>A (p.Gly1345Arg) c.3997G>A (p.Gly1333Arg) | |
19 | g.7117170T>A | CA505400037 | INSR | c.4035A>T (p.Gly1345=) c.3999A>T (p.Gly1333=) c.4110A>T (p.Gly1370=) c.4074A>T (p.Gly1358=) c.4032A>T (p.Gly1344=) c.3996A>T (p.Gly1332=) | |
19 | g.7117170T>C | CA505400038 | INSR | c.4035A>G (p.Gly1345=) c.3999A>G (p.Gly1333=) c.4110A>G (p.Gly1370=) c.4074A>G (p.Gly1358=) c.4032A>G (p.Gly1344=) c.3996A>G (p.Gly1332=) | dbSNP |
19 | g.7117170T>G | CA505400039 | INSR | c.4035A>C (p.Gly1345=) c.3999A>C (p.Gly1333=) c.4110A>C (p.Gly1370=) c.4074A>C (p.Gly1358=) c.4032A>C (p.Gly1344=) c.3996A>C (p.Gly1332=) | |
19 | g.7117170T= | CA2320763686 | INSR | c.4035A= (p.Gly1345=) c.3999A= (p.Gly1333=) c.4110A= (p.Gly1370=) c.4074A= (p.Gly1358=) c.4032A= (p.Gly1344=) c.3996A= (p.Gly1332=) | |
19 | g.7117171C>A | CA403668437 | INSR | c.4034G>T (p.Gly1345Val) c.3998G>T (p.Gly1333Val) c.4109G>T (p.Gly1370Val) c.4073G>T (p.Gly1358Val) c.4031G>T (p.Gly1344Val) c.3995G>T (p.Gly1332Val) | gnomAD v4 |
19 | g.7117171C>G | CA403668438 | INSR | c.4034G>C (p.Gly1345Ala) c.3998G>C (p.Gly1333Ala) c.4109G>C (p.Gly1370Ala) c.4073G>C (p.Gly1358Ala) c.4031G>C (p.Gly1344Ala) c.3995G>C (p.Gly1332Ala) | |
19 | g.7117171C>T | CA403668439 | INSR | c.4034G>A (p.Gly1345Glu) c.3998G>A (p.Gly1333Glu) c.4109G>A (p.Gly1370Glu) c.4073G>A (p.Gly1358Glu) c.4031G>A (p.Gly1344Glu) c.3995G>A (p.Gly1332Glu) | |
19 | g.7117172C>A | CA403668440 | INSR | c.4033G>T (p.Gly1345Ter) c.3997G>T (p.Gly1333Ter) c.4108G>T (p.Gly1370Ter) c.4072G>T (p.Gly1358Ter) c.4030G>T (p.Gly1344Ter) c.3994G>T (p.Gly1332Ter) | |
19 | g.7117172C>G | CA403668441 | INSR | c.4033G>C (p.Gly1345Arg) c.3997G>C (p.Gly1333Arg) c.4108G>C (p.Gly1370Arg) c.4072G>C (p.Gly1358Arg) c.4030G>C (p.Gly1344Arg) c.3994G>C (p.Gly1332Arg) | |
19 | g.7117172C>T | CA403668442 | INSR | c.4033G>A (p.Gly1345Arg) c.3997G>A (p.Gly1333Arg) c.4108G>A (p.Gly1370Arg) c.4072G>A (p.Gly1358Arg) c.4030G>A (p.Gly1344Arg) c.3994G>A (p.Gly1332Arg) | gnomAD v4 |
19 | g.7117173A= | CA2320763687 | INSR | c.4032T= (p.Asp1344=) c.3996T= (p.Asp1332=) c.4107T= (p.Asp1369=) c.4071T= (p.Asp1357=) c.4029T= (p.Asp1343=) c.3993T= (p.Asp1331=) | |
19 | g.7117173A>C | CA403668443 | INSR | c.4032T>G (p.Asp1344Glu) c.3996T>G (p.Asp1332Glu) c.4107T>G (p.Asp1369Glu) c.4071T>G (p.Asp1357Glu) c.4029T>G (p.Asp1343Glu) c.3993T>G (p.Asp1331Glu) | |
19 | g.7117173A>G | CA505400040 | INSR | c.4032T>C (p.Asp1344=) c.3996T>C (p.Asp1332=) c.4107T>C (p.Asp1369=) c.4071T>C (p.Asp1357=) c.4029T>C (p.Asp1343=) c.3993T>C (p.Asp1331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117173A>T | CA403668444 | INSR | c.4032T>A (p.Asp1344Glu) c.3996T>A (p.Asp1332Glu) c.4107T>A (p.Asp1369Glu) c.4071T>A (p.Asp1357Glu) c.4029T>A (p.Asp1343Glu) c.3993T>A (p.Asp1331Glu) | |
19 | g.7117174T>A | CA403668445 | INSR | c.4031A>T (p.Asp1344Val) c.3995A>T (p.Asp1332Val) c.4106A>T (p.Asp1369Val) c.4070A>T (p.Asp1357Val) c.4028A>T (p.Asp1343Val) c.3992A>T (p.Asp1331Val) | gnomAD v4 |
19 | g.7117174T>C | CA403668446 | INSR | c.4031A>G (p.Asp1344Gly) c.3995A>G (p.Asp1332Gly) c.4106A>G (p.Asp1369Gly) c.4070A>G (p.Asp1357Gly) c.4028A>G (p.Asp1343Gly) c.3992A>G (p.Asp1331Gly) | |
19 | g.7117174T>G | CA403668447 | INSR | c.4031A>C (p.Asp1344Ala) c.3995A>C (p.Asp1332Ala) c.4106A>C (p.Asp1369Ala) c.4070A>C (p.Asp1357Ala) c.4028A>C (p.Asp1343Ala) c.3992A>C (p.Asp1331Ala) | |
19 | g.7117175C>A | CA403668450 | INSR | c.4030G>T (p.Asp1344Tyr) c.3994G>T (p.Asp1332Tyr) c.4105G>T (p.Asp1369Tyr) c.4069G>T (p.Asp1357Tyr) c.4027G>T (p.Asp1343Tyr) c.3991G>T (p.Asp1331Tyr) | |
19 | g.7117175C>G | CA403668449 | INSR | c.4030G>C (p.Asp1344His) c.3994G>C (p.Asp1332His) c.4105G>C (p.Asp1369His) c.4069G>C (p.Asp1357His) c.4027G>C (p.Asp1343His) c.3991G>C (p.Asp1331His) | |
19 | g.7117175C>T | CA403668448 | INSR | c.4030G>A (p.Asp1344Asn) c.3994G>A (p.Asp1332Asn) c.4105G>A (p.Asp1369Asn) c.4069G>A (p.Asp1357Asn) c.4027G>A (p.Asp1343Asn) c.3991G>A (p.Asp1331Asn) | |
19 | g.7117176C>A | CA505400041 | INSR | c.4029G>T (p.Arg1343=) c.3993G>T (p.Arg1331=) c.4104G>T (p.Arg1368=) c.4068G>T (p.Arg1356=) c.4026G>T (p.Arg1342=) c.3990G>T (p.Arg1330=) | |
19 | g.7117176C>G | CA505400042 | INSR | c.4029G>C (p.Arg1343=) c.3993G>C (p.Arg1331=) c.4104G>C (p.Arg1368=) c.4068G>C (p.Arg1356=) c.4026G>C (p.Arg1342=) c.3990G>C (p.Arg1330=) | gnomAD v4 |
19 | g.7117176C>T | CA505400043 | INSR | c.4029G>A (p.Arg1343=) c.3993G>A (p.Arg1331=) c.4104G>A (p.Arg1368=) c.4068G>A (p.Arg1356=) c.4026G>A (p.Arg1342=) c.3990G>A (p.Arg1330=) | |
19 | g.7117177C>A | CA403668451 | INSR | c.4028G>T (p.Arg1343Leu) c.3992G>T (p.Arg1331Leu) c.4103G>T (p.Arg1368Leu) c.4067G>T (p.Arg1356Leu) c.4025G>T (p.Arg1342Leu) c.3989G>T (p.Arg1330Leu) | |
19 | g.7117177C= | CA2320763688 | INSR | c.4028G= (p.Arg1343=) c.3992G= (p.Arg1331=) c.4103G= (p.Arg1368=) c.4067G= (p.Arg1356=) c.4025G= (p.Arg1342=) c.3989G= (p.Arg1330=) | |
19 | g.7117177C>G | CA403668452 | INSR | c.4028G>C (p.Arg1343Pro) c.3992G>C (p.Arg1331Pro) c.4103G>C (p.Arg1368Pro) c.4067G>C (p.Arg1356Pro) c.4025G>C (p.Arg1342Pro) c.3989G>C (p.Arg1330Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117177C>T | CA9135101 | INSR | c.4028G>A (p.Arg1343Gln) c.3992G>A (p.Arg1331Gln) c.4103G>A (p.Arg1368Gln) c.4067G>A (p.Arg1356Gln) c.4025G>A (p.Arg1342Gln) c.3989G>A (p.Arg1330Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117178G>A | CA9135102 | INSR | c.4027C>T (p.Arg1343Trp) c.3991C>T (p.Arg1331Trp) c.4102C>T (p.Arg1368Trp) c.4066C>T (p.Arg1356Trp) c.4024C>T (p.Arg1342Trp) c.3988C>T (p.Arg1330Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117178G>C | CA403668453 | INSR | c.4027C>G (p.Arg1343Gly) c.3991C>G (p.Arg1331Gly) c.4102C>G (p.Arg1368Gly) c.4066C>G (p.Arg1356Gly) c.4024C>G (p.Arg1342Gly) c.3988C>G (p.Arg1330Gly) | |
19 | g.7117178G= | CA2320763689 | INSR | c.4027C= (p.Arg1343=) c.3991C= (p.Arg1331=) c.4102C= (p.Arg1368=) c.4066C= (p.Arg1356=) c.4024C= (p.Arg1342=) c.3988C= (p.Arg1330=) | |
19 | g.7117178G>T | CA505400044 | INSR | c.4027C>A (p.Arg1343=) c.3991C>A (p.Arg1331=) c.4102C>A (p.Arg1368=) c.4066C>A (p.Arg1356=) c.4024C>A (p.Arg1342=) c.3988C>A (p.Arg1330=) | |
19 | g.7117179G>A | CA505400045 | INSR | c.4026C>T (p.Gly1342=) c.3990C>T (p.Gly1330=) c.4101C>T (p.Gly1367=) c.4065C>T (p.Gly1355=) c.4023C>T (p.Gly1341=) c.3987C>T (p.Gly1329=) | |
19 | g.7117179G>C | CA505400046 | INSR | c.4026C>G (p.Gly1342=) c.3990C>G (p.Gly1330=) c.4101C>G (p.Gly1367=) c.4065C>G (p.Gly1355=) c.4023C>G (p.Gly1341=) c.3987C>G (p.Gly1329=) | COSMIC COSMIC |
19 | g.7117179G= | CA2320763690 | INSR | c.4026C= (p.Gly1342=) c.3990C= (p.Gly1330=) c.4101C= (p.Gly1367=) c.4065C= (p.Gly1355=) c.4023C= (p.Gly1341=) c.3987C= (p.Gly1329=) | |
19 | g.7117179G>T | CA505400047 | INSR | c.4026C>A (p.Gly1342=) c.3990C>A (p.Gly1330=) c.4101C>A (p.Gly1367=) c.4065C>A (p.Gly1355=) c.4023C>A (p.Gly1341=) c.3987C>A (p.Gly1329=) | |
19 | g.7117180C>A | CA403668454 | INSR | c.4025G>T (p.Gly1342Val) c.3989G>T (p.Gly1330Val) c.4100G>T (p.Gly1367Val) c.4064G>T (p.Gly1355Val) c.4022G>T (p.Gly1341Val) c.3986G>T (p.Gly1329Val) | |
19 | g.7117180C= | CA2320763691 | INSR | c.4025G= (p.Gly1342=) c.3989G= (p.Gly1330=) c.4100G= (p.Gly1367=) c.4064G= (p.Gly1355=) c.4022G= (p.Gly1341=) c.3986G= (p.Gly1329=) | |
19 | g.7117180C>G | CA403668455 | INSR | c.4025G>C (p.Gly1342Ala) c.3989G>C (p.Gly1330Ala) c.4100G>C (p.Gly1367Ala) c.4064G>C (p.Gly1355Ala) c.4022G>C (p.Gly1341Ala) c.3986G>C (p.Gly1329Ala) | |
19 | g.7117180C>T | CA403668456 | INSR | c.4025G>A (p.Gly1342Asp) c.3989G>A (p.Gly1330Asp) c.4100G>A (p.Gly1367Asp) c.4064G>A (p.Gly1355Asp) c.4022G>A (p.Gly1341Asp) c.3986G>A (p.Gly1329Asp) | dbSNP gnomAD v4 |
19 | g.7117185dup | CA304866449 | INSR | c.4025dup (p.Arg1343ProfsTer?) c.3989dup (p.Arg1331ProfsTer?) c.4100dup (p.Arg1368ProfsTer?) c.4064dup (p.Arg1356ProfsTer?) c.4022dup (p.Arg1342ProfsTer?) c.3986dup (p.Arg1330ProfsTer?) | dbSNP |
19 | g.7117184_7117185dup | CA2832572909 | INSR | c.4024_4025dup (p.Arg1343AlafsTer23) c.3988_3989dup (p.Arg1331AlafsTer23) c.4099_4100dup (p.Arg1368AlafsTer23) c.4063_4064dup (p.Arg1356AlafsTer23) c.4021_4022dup (p.Arg1342AlafsTer23) c.3985_3986dup (p.Arg1330AlafsTer23) | |
19 | g.7117185del | CA505400048 | INSR | c.4025del (p.Gly1342AlafsTer23) c.3989del (p.Gly1330AlafsTer23) c.4100del (p.Gly1367AlafsTer23) c.4064del (p.Gly1355AlafsTer23) c.4022del (p.Gly1341AlafsTer23) c.3986del (p.Gly1329AlafsTer23) | |
19 | g.7117181C>A | CA403668457 | INSR | c.4024G>T (p.Gly1342Cys) c.3988G>T (p.Gly1330Cys) c.4099G>T (p.Gly1367Cys) c.4063G>T (p.Gly1355Cys) c.4021G>T (p.Gly1341Cys) c.3985G>T (p.Gly1329Cys) | |
19 | g.7117181C>G | CA403668458 | INSR | c.4024G>C (p.Gly1342Arg) c.3988G>C (p.Gly1330Arg) c.4099G>C (p.Gly1367Arg) c.4063G>C (p.Gly1355Arg) c.4021G>C (p.Gly1341Arg) c.3985G>C (p.Gly1329Arg) | |
19 | g.7117181C>T | CA403668459 | INSR | c.4024G>A (p.Gly1342Ser) c.3988G>A (p.Gly1330Ser) c.4099G>A (p.Gly1367Ser) c.4063G>A (p.Gly1355Ser) c.4021G>A (p.Gly1341Ser) c.3985G>A (p.Gly1329Ser) | ClinVar gnomAD v4 |
19 | g.7117182C>A | CA505400049 | INSR | c.4023G>T (p.Gly1341=) c.3987G>T (p.Gly1329=) c.4098G>T (p.Gly1366=) c.4062G>T (p.Gly1354=) c.4020G>T (p.Gly1340=) c.3984G>T (p.Gly1328=) | gnomAD v4 |
19 | g.7117182C= | CA2320763692 | INSR | c.4023G= (p.Gly1341=) c.3987G= (p.Gly1329=) c.4098G= (p.Gly1366=) c.4062G= (p.Gly1354=) c.4020G= (p.Gly1340=) c.3984G= (p.Gly1328=) | |
19 | g.7117182C>G | CA505400050 | INSR | c.4023G>C (p.Gly1341=) c.3987G>C (p.Gly1329=) c.4098G>C (p.Gly1366=) c.4062G>C (p.Gly1354=) c.4020G>C (p.Gly1340=) c.3984G>C (p.Gly1328=) | |
19 | g.7117182C>T | CA9135103 | INSR | c.4023G>A (p.Gly1341=) c.3987G>A (p.Gly1329=) c.4098G>A (p.Gly1366=) c.4062G>A (p.Gly1354=) c.4020G>A (p.Gly1340=) c.3984G>A (p.Gly1328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117183C>A | CA403668460 | INSR | c.4022G>T (p.Gly1341Val) c.3986G>T (p.Gly1329Val) c.4097G>T (p.Gly1366Val) c.4061G>T (p.Gly1354Val) c.4019G>T (p.Gly1340Val) c.3983G>T (p.Gly1328Val) | |
19 | g.7117183C= | CA2320763693 | INSR | c.4022G= (p.Gly1341=) c.3986G= (p.Gly1329=) c.4097G= (p.Gly1366=) c.4061G= (p.Gly1354=) c.4019G= (p.Gly1340=) c.3983G= (p.Gly1328=) | |
19 | g.7117183C>G | CA403668461 | INSR | c.4022G>C (p.Gly1341Ala) c.3986G>C (p.Gly1329Ala) c.4097G>C (p.Gly1366Ala) c.4061G>C (p.Gly1354Ala) c.4019G>C (p.Gly1340Ala) c.3983G>C (p.Gly1328Ala) | dbSNP |
19 | g.7117183C>T | CA304866463 | INSR | c.4022G>A (p.Gly1341Glu) c.3986G>A (p.Gly1329Glu) c.4097G>A (p.Gly1366Glu) c.4061G>A (p.Gly1354Glu) c.4019G>A (p.Gly1340Glu) c.3983G>A (p.Gly1328Glu) | dbSNP |
19 | g.7117184C>A | CA403668464 | INSR | c.4021G>T (p.Gly1341Trp) c.3985G>T (p.Gly1329Trp) c.4096G>T (p.Gly1366Trp) c.4060G>T (p.Gly1354Trp) c.4018G>T (p.Gly1340Trp) c.3982G>T (p.Gly1328Trp) | |
19 | g.7117184C>G | CA403668462 | INSR | c.4021G>C (p.Gly1341Arg) c.3985G>C (p.Gly1329Arg) c.4096G>C (p.Gly1366Arg) c.4060G>C (p.Gly1354Arg) c.4018G>C (p.Gly1340Arg) c.3982G>C (p.Gly1328Arg) | |
19 | g.7117184C>T | CA403668463 | INSR | c.4021G>A (p.Gly1341Arg) c.3985G>A (p.Gly1329Arg) c.4096G>A (p.Gly1366Arg) c.4060G>A (p.Gly1354Arg) c.4018G>A (p.Gly1340Arg) c.3982G>A (p.Gly1328Arg) | |
19 | g.7117185C>A | CA505400051 | INSR | c.4020G>T (p.Ala1340=) c.3984G>T (p.Ala1328=) c.4095G>T (p.Ala1365=) c.4059G>T (p.Ala1353=) c.4017G>T (p.Ala1339=) c.3981G>T (p.Ala1327=) | gnomAD v4 |
19 | g.7117185C= | CA2320763694 | INSR | c.4020G= (p.Ala1340=) c.3984G= (p.Ala1328=) c.4095G= (p.Ala1365=) c.4059G= (p.Ala1353=) c.4017G= (p.Ala1339=) c.3981G= (p.Ala1327=) | |
19 | g.7117185C>G | CA505400052 | INSR | c.4020G>C (p.Ala1340=) c.3984G>C (p.Ala1328=) c.4095G>C (p.Ala1365=) c.4059G>C (p.Ala1353=) c.4017G>C (p.Ala1339=) c.3981G>C (p.Ala1327=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7117185C>T | CA505400053 | INSR | c.4020G>A (p.Ala1340=) c.3984G>A (p.Ala1328=) c.4095G>A (p.Ala1365=) c.4059G>A (p.Ala1353=) c.4017G>A (p.Ala1339=) c.3981G>A (p.Ala1327=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117186G>A | CA9135104 | INSR | c.4019C>T (p.Ala1340Val) c.3983C>T (p.Ala1328Val) c.4094C>T (p.Ala1365Val) c.4058C>T (p.Ala1353Val) c.4016C>T (p.Ala1339Val) c.3980C>T (p.Ala1327Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7117186G>C | CA403668465 | INSR | c.4019C>G (p.Ala1340Gly) c.3983C>G (p.Ala1328Gly) c.4094C>G (p.Ala1365Gly) c.4058C>G (p.Ala1353Gly) c.4016C>G (p.Ala1339Gly) c.3980C>G (p.Ala1327Gly) | |
19 | g.7117186G= | CA2320763695 | INSR | c.4019C= (p.Ala1340=) c.3983C= (p.Ala1328=) c.4094C= (p.Ala1365=) c.4058C= (p.Ala1353=) c.4016C= (p.Ala1339=) c.3980C= (p.Ala1327=) | |
19 | g.7117186G>T | CA403668466 | INSR | c.4019C>A (p.Ala1340Glu) c.3983C>A (p.Ala1328Glu) c.4094C>A (p.Ala1365Glu) c.4058C>A (p.Ala1353Glu) c.4016C>A (p.Ala1339Glu) c.3980C>A (p.Ala1327Glu) | |
19 | g.7117187C>A | CA403668467 | INSR | c.4018G>T (p.Ala1340Ser) c.3982G>T (p.Ala1328Ser) c.4093G>T (p.Ala1365Ser) c.4057G>T (p.Ala1353Ser) c.4015G>T (p.Ala1339Ser) c.3979G>T (p.Ala1327Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117187C= | CA2320763696 | INSR | c.4018G= (p.Ala1340=) c.3982G= (p.Ala1328=) c.4093G= (p.Ala1365=) c.4057G= (p.Ala1353=) c.4015G= (p.Ala1339=) c.3979G= (p.Ala1327=) | |
19 | g.7117187C>G | CA403668468 | INSR | c.4018G>C (p.Ala1340Pro) c.3982G>C (p.Ala1328Pro) c.4093G>C (p.Ala1365Pro) c.4057G>C (p.Ala1353Pro) c.4015G>C (p.Ala1339Pro) c.3979G>C (p.Ala1327Pro) | |
19 | g.7117187C>T | CA403668469 | INSR | c.4018G>A (p.Ala1340Thr) c.3982G>A (p.Ala1328Thr) c.4093G>A (p.Ala1365Thr) c.4057G>A (p.Ala1353Thr) c.4015G>A (p.Ala1339Thr) c.3979G>A (p.Ala1327Thr) | dbSNP gnomAD v4 |
19 | g.7117188C>A | CA403668470 | INSR | c.4017G>T (p.Glu1339Asp) c.3981G>T (p.Glu1327Asp) c.4092G>T (p.Glu1364Asp) c.4056G>T (p.Glu1352Asp) c.4014G>T (p.Glu1338Asp) c.3978G>T (p.Glu1326Asp) | |
19 | g.7117188C= | CA2320763697 | INSR | c.4017G= (p.Glu1339=) c.3981G= (p.Glu1327=) c.4092G= (p.Glu1364=) c.4056G= (p.Glu1352=) c.4014G= (p.Glu1338=) c.3978G= (p.Glu1326=) | |
19 | g.7117188C>G | CA403668471 | INSR | c.4017G>C (p.Glu1339Asp) c.3981G>C (p.Glu1327Asp) c.4092G>C (p.Glu1364Asp) c.4056G>C (p.Glu1352Asp) c.4014G>C (p.Glu1338Asp) c.3978G>C (p.Glu1326Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117188C>T | CA505400054 | INSR | c.4017G>A (p.Glu1339=) c.3981G>A (p.Glu1327=) c.4092G>A (p.Glu1364=) c.4056G>A (p.Glu1352=) c.4014G>A (p.Glu1338=) c.3978G>A (p.Glu1326=) | |
19 | g.7117189T>A | CA403668472 | INSR | c.4016A>T (p.Glu1339Val) c.3980A>T (p.Glu1327Val) c.4091A>T (p.Glu1364Val) c.4055A>T (p.Glu1352Val) c.4013A>T (p.Glu1338Val) c.3977A>T (p.Glu1326Val) | |
19 | g.7117189T>C | CA403668473 | INSR | c.4016A>G (p.Glu1339Gly) c.3980A>G (p.Glu1327Gly) c.4091A>G (p.Glu1364Gly) c.4055A>G (p.Glu1352Gly) c.4013A>G (p.Glu1338Gly) c.3977A>G (p.Glu1326Gly) | gnomAD v4 |
19 | g.7117189T>G | CA403668474 | INSR | c.4016A>C (p.Glu1339Ala) c.3980A>C (p.Glu1327Ala) c.4091A>C (p.Glu1364Ala) c.4055A>C (p.Glu1352Ala) c.4013A>C (p.Glu1338Ala) c.3977A>C (p.Glu1326Ala) | |
19 | g.7117190C>A | CA403668475 | INSR | c.4015G>T (p.Glu1339Ter) c.3979G>T (p.Glu1327Ter) c.4090G>T (p.Glu1364Ter) c.4054G>T (p.Glu1352Ter) c.4012G>T (p.Glu1338Ter) c.3976G>T (p.Glu1326Ter) | |
19 | g.7117190C= | CA2320763698 | INSR | c.4015G= (p.Glu1339=) c.3979G= (p.Glu1327=) c.4090G= (p.Glu1364=) c.4054G= (p.Glu1352=) c.4012G= (p.Glu1338=) c.3976G= (p.Glu1326=) | |
19 | g.7117190C>G | CA403668476 | INSR | c.4015G>C (p.Glu1339Gln) c.3979G>C (p.Glu1327Gln) c.4090G>C (p.Glu1364Gln) c.4054G>C (p.Glu1352Gln) c.4012G>C (p.Glu1338Gln) c.3976G>C (p.Glu1326Gln) | |
19 | g.7117190C>T | CA304866480 | INSR | c.4015G>A (p.Glu1339Lys) c.3979G>A (p.Glu1327Lys) c.4090G>A (p.Glu1364Lys) c.4054G>A (p.Glu1352Lys) c.4012G>A (p.Glu1338Lys) c.3976G>A (p.Glu1326Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117191C>A | CA403668477 | INSR | c.4014G>T (p.Glu1338Asp) c.3978G>T (p.Glu1326Asp) c.4089G>T (p.Glu1363Asp) c.4053G>T (p.Glu1351Asp) c.4011G>T (p.Glu1337Asp) c.3975G>T (p.Glu1325Asp) | |
19 | g.7117191C>G | CA403668478 | INSR | c.4014G>C (p.Glu1338Asp) c.3978G>C (p.Glu1326Asp) c.4089G>C (p.Glu1363Asp) c.4053G>C (p.Glu1351Asp) c.4011G>C (p.Glu1337Asp) c.3975G>C (p.Glu1325Asp) | |
19 | g.7117191C>T | CA505400055 | INSR | c.4014G>A (p.Glu1338=) c.3978G>A (p.Glu1326=) c.4089G>A (p.Glu1363=) c.4053G>A (p.Glu1351=) c.4011G>A (p.Glu1337=) c.3975G>A (p.Glu1325=) | |
19 | g.7117192T>A | CA403668479 | INSR | c.4013A>T (p.Glu1338Val) c.3977A>T (p.Glu1326Val) c.4088A>T (p.Glu1363Val) c.4052A>T (p.Glu1351Val) c.4010A>T (p.Glu1337Val) c.3974A>T (p.Glu1325Val) | |
19 | g.7117192T>C | CA403668480 | INSR | c.4013A>G (p.Glu1338Gly) c.3977A>G (p.Glu1326Gly) c.4088A>G (p.Glu1363Gly) c.4052A>G (p.Glu1351Gly) c.4010A>G (p.Glu1337Gly) c.3974A>G (p.Glu1325Gly) | |
19 | g.7117192T>G | CA403668481 | INSR | c.4013A>C (p.Glu1338Ala) c.3977A>C (p.Glu1326Ala) c.4088A>C (p.Glu1363Ala) c.4052A>C (p.Glu1351Ala) c.4010A>C (p.Glu1337Ala) c.3974A>C (p.Glu1325Ala) | |
19 | g.7117193C>A | CA403668482 | INSR | c.4012G>T (p.Glu1338Ter) c.3976G>T (p.Glu1326Ter) c.4087G>T (p.Glu1363Ter) c.4051G>T (p.Glu1351Ter) c.4009G>T (p.Glu1337Ter) c.3973G>T (p.Glu1325Ter) | |
19 | g.7117193C>G | CA403668483 | INSR | c.4012G>C (p.Glu1338Gln) c.3976G>C (p.Glu1326Gln) c.4087G>C (p.Glu1363Gln) c.4051G>C (p.Glu1351Gln) c.4009G>C (p.Glu1337Gln) c.3973G>C (p.Glu1325Gln) | |
19 | g.7117193C>T | CA403668484 | INSR | c.4012G>A (p.Glu1338Lys) c.3976G>A (p.Glu1326Lys) c.4087G>A (p.Glu1363Lys) c.4051G>A (p.Glu1351Lys) c.4009G>A (p.Glu1337Lys) c.3973G>A (p.Glu1325Lys) | |
19 | g.7117194C>A | CA403668485 | INSR | c.4011G>T (p.Arg1337Ser) c.3975G>T (p.Arg1325Ser) c.4086G>T (p.Arg1362Ser) c.4050G>T (p.Arg1350Ser) c.4008G>T (p.Arg1336Ser) c.3972G>T (p.Arg1324Ser) | dbSNP |
19 | g.7117194C>G | CA403668486 | INSR | c.4011G>C (p.Arg1337Ser) c.3975G>C (p.Arg1325Ser) c.4086G>C (p.Arg1362Ser) c.4050G>C (p.Arg1350Ser) c.4008G>C (p.Arg1336Ser) c.3972G>C (p.Arg1324Ser) | |
19 | g.7117194C>T | CA505400056 | INSR | c.4011G>A (p.Arg1337=) c.3975G>A (p.Arg1325=) c.4086G>A (p.Arg1362=) c.4050G>A (p.Arg1350=) c.4008G>A (p.Arg1336=) c.3972G>A (p.Arg1324=) | |
19 | g.7117195C>A | CA403668487 | INSR | c.4010G>T (p.Arg1337Met) c.3974G>T (p.Arg1325Met) c.4085G>T (p.Arg1362Met) c.4049G>T (p.Arg1350Met) c.4007G>T (p.Arg1336Met) c.3971G>T (p.Arg1324Met) | |
19 | g.7117195C>G | CA403668488 | INSR | c.4010G>C (p.Arg1337Thr) c.3974G>C (p.Arg1325Thr) c.4085G>C (p.Arg1362Thr) c.4049G>C (p.Arg1350Thr) c.4007G>C (p.Arg1336Thr) c.3971G>C (p.Arg1324Thr) | |
19 | g.7117195C>T | CA403668489 | INSR | c.4010G>A (p.Arg1337Lys) c.3974G>A (p.Arg1325Lys) c.4085G>A (p.Arg1362Lys) c.4049G>A (p.Arg1350Lys) c.4007G>A (p.Arg1336Lys) c.3971G>A (p.Arg1324Lys) | |
19 | g.7117196T>A | CA403668491 | INSR | c.4009A>T (p.Arg1337Trp) c.3973A>T (p.Arg1325Trp) c.4084A>T (p.Arg1362Trp) c.4048A>T (p.Arg1350Trp) c.4006A>T (p.Arg1336Trp) c.3970A>T (p.Arg1324Trp) | |
19 | g.7117196T>C | CA403668490 | INSR | c.4009A>G (p.Arg1337Gly) c.3973A>G (p.Arg1325Gly) c.4084A>G (p.Arg1362Gly) c.4048A>G (p.Arg1350Gly) c.4006A>G (p.Arg1336Gly) c.3970A>G (p.Arg1324Gly) | |
19 | g.7117196T>G | CA505400057 | INSR | c.4009A>C (p.Arg1337=) c.3973A>C (p.Arg1325=) c.4084A>C (p.Arg1362=) c.4048A>C (p.Arg1350=) c.4006A>C (p.Arg1336=) c.3970A>C (p.Arg1324=) | |
19 | g.7117197C>A | CA403668492 | INSR | c.4008G>T (p.Gln1336His) c.3972G>T (p.Gln1324His) c.4083G>T (p.Gln1361His) c.4047G>T (p.Gln1349His) c.4005G>T (p.Gln1335His) c.3969G>T (p.Gln1323His) | |
19 | g.7117197C>G | CA403668493 | INSR | c.4008G>C (p.Gln1336His) c.3972G>C (p.Gln1324His) c.4083G>C (p.Gln1361His) c.4047G>C (p.Gln1349His) c.4005G>C (p.Gln1335His) c.3969G>C (p.Gln1323His) | |
19 | g.7117197C>T | CA505400058 | INSR | c.4008G>A (p.Gln1336=) c.3972G>A (p.Gln1324=) c.4083G>A (p.Gln1361=) c.4047G>A (p.Gln1349=) c.4005G>A (p.Gln1335=) c.3969G>A (p.Gln1323=) | gnomAD v4 |
19 | g.7117198T>A | CA403668494 | INSR | c.4007A>T (p.Gln1336Leu) c.3971A>T (p.Gln1324Leu) c.4082A>T (p.Gln1361Leu) c.4046A>T (p.Gln1349Leu) c.4004A>T (p.Gln1335Leu) c.3968A>T (p.Gln1323Leu) | |
19 | g.7117198T>C | CA403668495 | INSR | c.4007A>G (p.Gln1336Arg) c.3971A>G (p.Gln1324Arg) c.4082A>G (p.Gln1361Arg) c.4046A>G (p.Gln1349Arg) c.4004A>G (p.Gln1335Arg) c.3968A>G (p.Gln1323Arg) | |
19 | g.7117198T>G | CA403668496 | INSR | c.4007A>C (p.Gln1336Pro) c.3971A>C (p.Gln1324Pro) c.4082A>C (p.Gln1361Pro) c.4046A>C (p.Gln1349Pro) c.4004A>C (p.Gln1335Pro) c.3968A>C (p.Gln1323Pro) | |
19 | g.7117199G>A | CA403668497 | INSR | c.4006C>T (p.Gln1336Ter) c.3970C>T (p.Gln1324Ter) c.4081C>T (p.Gln1361Ter) c.4045C>T (p.Gln1349Ter) c.4003C>T (p.Gln1335Ter) c.3967C>T (p.Gln1323Ter) | gnomAD v4 |
19 | g.7117199G>C | CA403668498 | INSR | c.4006C>G (p.Gln1336Glu) c.3970C>G (p.Gln1324Glu) c.4081C>G (p.Gln1361Glu) c.4045C>G (p.Gln1349Glu) c.4003C>G (p.Gln1335Glu) c.3967C>G (p.Gln1323Glu) | |
19 | g.7117199G>T | CA403668499 | INSR | c.4006C>A (p.Gln1336Lys) c.3970C>A (p.Gln1324Lys) c.4081C>A (p.Gln1361Lys) c.4045C>A (p.Gln1349Lys) c.4003C>A (p.Gln1335Lys) c.3967C>A (p.Gln1323Lys) | gnomAD v4 |
19 | g.7117200A= | CA2320763699 | INSR | c.4005T= (p.Cys1335=) c.3969T= (p.Cys1323=) c.4080T= (p.Cys1360=) c.4044T= (p.Cys1348=) c.4002T= (p.Cys1334=) c.3966T= (p.Cys1322=) | |
19 | g.7117200A>C | CA9135105 | INSR | c.4005T>G (p.Cys1335Trp) c.3969T>G (p.Cys1323Trp) c.4080T>G (p.Cys1360Trp) c.4044T>G (p.Cys1348Trp) c.4002T>G (p.Cys1334Trp) c.3966T>G (p.Cys1322Trp) | dbSNP ExAC |
19 | g.7117200A>G | CA505400059 | INSR | c.4005T>C (p.Cys1335=) c.3969T>C (p.Cys1323=) c.4080T>C (p.Cys1360=) c.4044T>C (p.Cys1348=) c.4002T>C (p.Cys1334=) c.3966T>C (p.Cys1322=) | COSMIC COSMIC |
19 | g.7117200A>T | CA403668500 | INSR | c.4005T>A (p.Cys1335Ter) c.3969T>A (p.Cys1323Ter) c.4080T>A (p.Cys1360Ter) c.4044T>A (p.Cys1348Ter) c.4002T>A (p.Cys1334Ter) c.3966T>A (p.Cys1322Ter) | |
19 | g.7117201C>A | CA403668501 | INSR | c.4004G>T (p.Cys1335Phe) c.3968G>T (p.Cys1323Phe) c.4079G>T (p.Cys1360Phe) c.4043G>T (p.Cys1348Phe) c.4001G>T (p.Cys1334Phe) c.3965G>T (p.Cys1322Phe) | |
19 | g.7117201C>G | CA403668502 | INSR | c.4004G>C (p.Cys1335Ser) c.3968G>C (p.Cys1323Ser) c.4079G>C (p.Cys1360Ser) c.4043G>C (p.Cys1348Ser) c.4001G>C (p.Cys1334Ser) c.3965G>C (p.Cys1322Ser) | |
19 | g.7117201C>T | CA403668503 | INSR | c.4004G>A (p.Cys1335Tyr) c.3968G>A (p.Cys1323Tyr) c.4079G>A (p.Cys1360Tyr) c.4043G>A (p.Cys1348Tyr) c.4001G>A (p.Cys1334Tyr) c.3965G>A (p.Cys1322Tyr) | |
19 | g.7117202A= | CA2320763700 | INSR | c.4003T= (p.Cys1335=) c.3967T= (p.Cys1323=) c.4078T= (p.Cys1360=) c.4042T= (p.Cys1348=) c.4000T= (p.Cys1334=) c.3964T= (p.Cys1322=) | |
19 | g.7117202A>C | CA403668506 | INSR | c.4003T>G (p.Cys1335Gly) c.3967T>G (p.Cys1323Gly) c.4078T>G (p.Cys1360Gly) c.4042T>G (p.Cys1348Gly) c.4000T>G (p.Cys1334Gly) c.3964T>G (p.Cys1322Gly) | |
19 | g.7117202A>G | CA403668505 | INSR | c.4003T>C (p.Cys1335Arg) c.3967T>C (p.Cys1323Arg) c.4078T>C (p.Cys1360Arg) c.4042T>C (p.Cys1348Arg) c.4000T>C (p.Cys1334Arg) c.3964T>C (p.Cys1322Arg) | |
19 | g.7117202A>T | CA403668504 | INSR | c.4003T>A (p.Cys1335Ser) c.3967T>A (p.Cys1323Ser) c.4078T>A (p.Cys1360Ser) c.4042T>A (p.Cys1348Ser) c.4000T>A (p.Cys1334Ser) c.3964T>A (p.Cys1322Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117203G>A | CA9135106 | INSR | c.4002C>T (p.His1334=) c.3966C>T (p.His1322=) c.4077C>T (p.His1359=) c.4041C>T (p.His1347=) c.3999C>T (p.His1333=) c.3963C>T (p.His1321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117203G>C | CA403668508 | INSR | c.4002C>G (p.His1334Gln) c.3966C>G (p.His1322Gln) c.4077C>G (p.His1359Gln) c.4041C>G (p.His1347Gln) c.3999C>G (p.His1333Gln) c.3963C>G (p.His1321Gln) | |
19 | g.7117203G= | CA2320763701 | INSR | c.4002C= (p.His1334=) c.3966C= (p.His1322=) c.4077C= (p.His1359=) c.4041C= (p.His1347=) c.3999C= (p.His1333=) c.3963C= (p.His1321=) | |
19 | g.7117203G>T | CA403668507 | INSR | c.4002C>A (p.His1334Gln) c.3966C>A (p.His1322Gln) c.4077C>A (p.His1359Gln) c.4041C>A (p.His1347Gln) c.3999C>A (p.His1333Gln) c.3963C>A (p.His1321Gln) | |
19 | g.7117204T>A | CA403668509 | INSR | c.4001A>T (p.His1334Leu) c.3965A>T (p.His1322Leu) c.4076A>T (p.His1359Leu) c.4040A>T (p.His1347Leu) c.3998A>T (p.His1333Leu) c.3962A>T (p.His1321Leu) | gnomAD v4 |
19 | g.7117204T>C | CA403668510 | INSR | c.4001A>G (p.His1334Arg) c.3965A>G (p.His1322Arg) c.4076A>G (p.His1359Arg) c.4040A>G (p.His1347Arg) c.3998A>G (p.His1333Arg) c.3962A>G (p.His1321Arg) | gnomAD v4 |
19 | g.7117204T>G | CA403668511 | INSR | c.4001A>C (p.His1334Pro) c.3965A>C (p.His1322Pro) c.4076A>C (p.His1359Pro) c.4040A>C (p.His1347Pro) c.3998A>C (p.His1333Pro) c.3962A>C (p.His1321Pro) | |
19 | g.7117205G>A | CA403668512 | INSR | c.4000C>T (p.His1334Tyr) c.3964C>T (p.His1322Tyr) c.4075C>T (p.His1359Tyr) c.4039C>T (p.His1347Tyr) c.3997C>T (p.His1333Tyr) c.3961C>T (p.His1321Tyr) | |
19 | g.7117205G>C | CA403668513 | INSR | c.4000C>G (p.His1334Asp) c.3964C>G (p.His1322Asp) c.4075C>G (p.His1359Asp) c.4039C>G (p.His1347Asp) c.3997C>G (p.His1333Asp) c.3961C>G (p.His1321Asp) | |
19 | g.7117205G>T | CA403668514 | INSR | c.4000C>A (p.His1334Asn) c.3964C>A (p.His1322Asn) c.4075C>A (p.His1359Asn) c.4039C>A (p.His1347Asn) c.3997C>A (p.His1333Asn) c.3961C>A (p.His1321Asn) | |
19 | g.7117206C>A | CA9135107 | INSR | c.3999G>T (p.Ser1333=) c.3963G>T (p.Ser1321=) c.4074G>T (p.Ser1358=) c.4038G>T (p.Ser1346=) c.3996G>T (p.Ser1332=) c.3960G>T (p.Ser1320=) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.7117206C= | CA2320763702 | INSR | c.3999G= (p.Ser1333=) c.3963G= (p.Ser1321=) c.4074G= (p.Ser1358=) c.4038G= (p.Ser1346=) c.3996G= (p.Ser1332=) c.3960G= (p.Ser1320=) | |
19 | g.7117206C>G | CA505400060 | INSR | c.3999G>C (p.Ser1333=) c.3963G>C (p.Ser1321=) c.4074G>C (p.Ser1358=) c.4038G>C (p.Ser1346=) c.3996G>C (p.Ser1332=) c.3960G>C (p.Ser1320=) | gnomAD v4 |
19 | g.7117206C>T | CA9135108 | INSR | c.3999G>A (p.Ser1333=) c.3963G>A (p.Ser1321=) c.4074G>A (p.Ser1358=) c.4038G>A (p.Ser1346=) c.3996G>A (p.Ser1332=) c.3960G>A (p.Ser1320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7117207G>A | CA403668515 | INSR | c.3998C>T (p.Ser1333Leu) c.3962C>T (p.Ser1321Leu) c.4073C>T (p.Ser1358Leu) c.4037C>T (p.Ser1346Leu) c.3995C>T (p.Ser1332Leu) c.3959C>T (p.Ser1320Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7117207G>C | CA403668516 | INSR | c.3998C>G (p.Ser1333Trp) c.3962C>G (p.Ser1321Trp) c.4073C>G (p.Ser1358Trp) c.4037C>G (p.Ser1346Trp) c.3995C>G (p.Ser1332Trp) c.3959C>G (p.Ser1320Trp) | gnomAD v4 |
19 | g.7117207G= | CA2320763703 | INSR | c.3998C= (p.Ser1333=) c.3962C= (p.Ser1321=) c.4073C= (p.Ser1358=) c.4037C= (p.Ser1346=) c.3995C= (p.Ser1332=) c.3959C= (p.Ser1320=) | |
19 | g.7117207G>T | CA403668517 | INSR | c.3998C>A (p.Ser1333Ter) c.3962C>A (p.Ser1321Ter) c.4073C>A (p.Ser1358Ter) c.4037C>A (p.Ser1346Ter) c.3995C>A (p.Ser1332Ter) c.3959C>A (p.Ser1320Ter) | |
19 | g.7117208A>C | CA403668520 | INSR | c.3997T>G (p.Ser1333Ala) c.3961T>G (p.Ser1321Ala) c.4072T>G (p.Ser1358Ala) c.4036T>G (p.Ser1346Ala) c.3994T>G (p.Ser1332Ala) c.3958T>G (p.Ser1320Ala) | |
19 | g.7117208A>G | CA403668519 | INSR | c.3997T>C (p.Ser1333Pro) c.3961T>C (p.Ser1321Pro) c.4072T>C (p.Ser1358Pro) c.4036T>C (p.Ser1346Pro) c.3994T>C (p.Ser1332Pro) c.3958T>C (p.Ser1320Pro) | |
19 | g.7117208A>T | CA403668518 | INSR | c.3997T>A (p.Ser1333Thr) c.3961T>A (p.Ser1321Thr) c.4072T>A (p.Ser1358Thr) c.4036T>A (p.Ser1346Thr) c.3994T>A (p.Ser1332Thr) c.3958T>A (p.Ser1320Thr) | |
19 | g.7117209G>A | CA304866545 | INSR | c.3996C>T (p.Ser1332=) c.3960C>T (p.Ser1320=) c.4071C>T (p.Ser1357=) c.4035C>T (p.Ser1345=) c.3993C>T (p.Ser1331=) c.3957C>T (p.Ser1319=) | dbSNP gnomAD v4 |
19 | g.7117209G>C | CA505400061 | INSR | c.3996C>G (p.Ser1332=) c.3960C>G (p.Ser1320=) c.4071C>G (p.Ser1357=) c.4035C>G (p.Ser1345=) c.3993C>G (p.Ser1331=) c.3957C>G (p.Ser1319=) | |
19 | g.7117209G= | CA2320763704 | INSR | c.3996C= (p.Ser1332=) c.3960C= (p.Ser1320=) c.4071C= (p.Ser1357=) c.4035C= (p.Ser1345=) c.3993C= (p.Ser1331=) c.3957C= (p.Ser1319=) | |
19 | g.7117209G>T | CA505400062 | INSR | c.3996C>A (p.Ser1332=) c.3960C>A (p.Ser1320=) c.4071C>A (p.Ser1357=) c.4035C>A (p.Ser1345=) c.3993C>A (p.Ser1331=) c.3957C>A (p.Ser1319=) | gnomAD v4 |
19 | g.7117210G>A | CA9135109 | INSR | c.3995C>T (p.Ser1332Phe) c.3959C>T (p.Ser1320Phe) c.4070C>T (p.Ser1357Phe) c.4034C>T (p.Ser1345Phe) c.3992C>T (p.Ser1331Phe) c.3956C>T (p.Ser1319Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117210G>C | CA403668521 | INSR | c.3995C>G (p.Ser1332Cys) c.3959C>G (p.Ser1320Cys) c.4070C>G (p.Ser1357Cys) c.4034C>G (p.Ser1345Cys) c.3992C>G (p.Ser1331Cys) c.3956C>G (p.Ser1319Cys) | |
19 | g.7117210G= | CA2320763705 | INSR | c.3995C= (p.Ser1332=) c.3959C= (p.Ser1320=) c.4070C= (p.Ser1357=) c.4034C= (p.Ser1345=) c.3992C= (p.Ser1331=) c.3956C= (p.Ser1319=) | |
19 | g.7117210G>T | CA403668522 | INSR | c.3995C>A (p.Ser1332Tyr) c.3959C>A (p.Ser1320Tyr) c.4070C>A (p.Ser1357Tyr) c.4034C>A (p.Ser1345Tyr) c.3992C>A (p.Ser1331Tyr) c.3956C>A (p.Ser1319Tyr) | |
19 | g.7117211A= | CA2320763706 | INSR | c.3994T= (p.Ser1332=) c.3958T= (p.Ser1320=) c.4069T= (p.Ser1357=) c.4033T= (p.Ser1345=) c.3991T= (p.Ser1331=) c.3955T= (p.Ser1319=) | |
19 | g.7117211A>C | CA403668523 | INSR | c.3994T>G (p.Ser1332Ala) c.3958T>G (p.Ser1320Ala) c.4069T>G (p.Ser1357Ala) c.4033T>G (p.Ser1345Ala) c.3991T>G (p.Ser1331Ala) c.3955T>G (p.Ser1319Ala) | |
19 | g.7117211A>G | CA403668524 | INSR | c.3994T>C (p.Ser1332Pro) c.3958T>C (p.Ser1320Pro) c.4069T>C (p.Ser1357Pro) c.4033T>C (p.Ser1345Pro) c.3991T>C (p.Ser1331Pro) c.3955T>C (p.Ser1319Pro) | dbSNP |
19 | g.7117211A>T | CA403668525 | INSR | c.3994T>A (p.Ser1332Thr) c.3958T>A (p.Ser1320Thr) c.4069T>A (p.Ser1357Thr) c.4033T>A (p.Ser1345Thr) c.3991T>A (p.Ser1331Thr) c.3955T>A (p.Ser1319Thr) | |
19 | g.7117212A= | CA2320763707 | INSR | c.3993T= (p.Arg1331=) c.3957T= (p.Arg1319=) c.4068T= (p.Arg1356=) c.4032T= (p.Arg1344=) c.3990T= (p.Arg1330=) c.3954T= (p.Arg1318=) | |
19 | g.7117212A>C | CA505400063 | INSR | c.3993T>G (p.Arg1331=) c.3957T>G (p.Arg1319=) c.4068T>G (p.Arg1356=) c.4032T>G (p.Arg1344=) c.3990T>G (p.Arg1330=) c.3954T>G (p.Arg1318=) | gnomAD v4 |
19 | g.7117212A>G | CA505400064 | INSR | c.3993T>C (p.Arg1331=) c.3957T>C (p.Arg1319=) c.4068T>C (p.Arg1356=) c.4032T>C (p.Arg1344=) c.3990T>C (p.Arg1330=) c.3954T>C (p.Arg1318=) | dbSNP |
19 | g.7117212A>T | CA505400065 | INSR | c.3993T>A (p.Arg1331=) c.3957T>A (p.Arg1319=) c.4068T>A (p.Arg1356=) c.4032T>A (p.Arg1344=) c.3990T>A (p.Arg1330=) c.3954T>A (p.Arg1318=) | |
19 | g.7117213C>A | CA403668526 | INSR | c.3992G>T (p.Arg1331Leu) c.3956G>T (p.Arg1319Leu) c.4067G>T (p.Arg1356Leu) c.4031G>T (p.Arg1344Leu) c.3989G>T (p.Arg1330Leu) c.3953G>T (p.Arg1318Leu) | |
19 | g.7117213C= | CA2320763708 | INSR | c.3992G= (p.Arg1331=) c.3956G= (p.Arg1319=) c.4067G= (p.Arg1356=) c.4031G= (p.Arg1344=) c.3989G= (p.Arg1330=) c.3953G= (p.Arg1318=) | |
19 | g.7117213C>G | CA403668527 | INSR | c.3992G>C (p.Arg1331Pro) c.3956G>C (p.Arg1319Pro) c.4067G>C (p.Arg1356Pro) c.4031G>C (p.Arg1344Pro) c.3989G>C (p.Arg1330Pro) c.3953G>C (p.Arg1318Pro) | |
19 | g.7117213C>T | CA403668528 | INSR | c.3992G>A (p.Arg1331His) c.3956G>A (p.Arg1319His) c.4067G>A (p.Arg1356His) c.4031G>A (p.Arg1344His) c.3989G>A (p.Arg1330His) c.3953G>A (p.Arg1318His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117214G>A | CA9135110 | INSR | c.3991C>T (p.Arg1331Cys) c.3955C>T (p.Arg1319Cys) c.4066C>T (p.Arg1356Cys) c.4030C>T (p.Arg1344Cys) c.3988C>T (p.Arg1330Cys) c.3952C>T (p.Arg1318Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117214G>C | CA9135111 | INSR | c.3991C>G (p.Arg1331Gly) c.3955C>G (p.Arg1319Gly) c.4066C>G (p.Arg1356Gly) c.4030C>G (p.Arg1344Gly) c.3988C>G (p.Arg1330Gly) c.3952C>G (p.Arg1318Gly) | dbSNP ExAC gnomAD v2 |
19 | g.7117214G= | CA2320763709 | INSR | c.3991C= (p.Arg1331=) c.3955C= (p.Arg1319=) c.4066C= (p.Arg1356=) c.4030C= (p.Arg1344=) c.3988C= (p.Arg1330=) c.3952C= (p.Arg1318=) | |
19 | g.7117214G>T | CA403668529 | INSR | c.3991C>A (p.Arg1331Ser) c.3955C>A (p.Arg1319Ser) c.4066C>A (p.Arg1356Ser) c.4030C>A (p.Arg1344Ser) c.3988C>A (p.Arg1330Ser) c.3952C>A (p.Arg1318Ser) | |
19 | g.7117215G>A | CA505400066 | INSR | c.3990C>T (p.Asp1330=) c.3954C>T (p.Asp1318=) c.4065C>T (p.Asp1355=) c.4029C>T (p.Asp1343=) c.3987C>T (p.Asp1329=) c.3951C>T (p.Asp1317=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117215G>C | CA403668531 | INSR | c.3990C>G (p.Asp1330Glu) c.3954C>G (p.Asp1318Glu) c.4065C>G (p.Asp1355Glu) c.4029C>G (p.Asp1343Glu) c.3987C>G (p.Asp1329Glu) c.3951C>G (p.Asp1317Glu) | |
19 | g.7117215G= | CA2320763710 | INSR | c.3990C= (p.Asp1330=) c.3954C= (p.Asp1318=) c.4065C= (p.Asp1355=) c.4029C= (p.Asp1343=) c.3987C= (p.Asp1329=) c.3951C= (p.Asp1317=) | |
19 | g.7117215G>T | CA403668530 | INSR | c.3990C>A (p.Asp1330Glu) c.3954C>A (p.Asp1318Glu) c.4065C>A (p.Asp1355Glu) c.4029C>A (p.Asp1343Glu) c.3987C>A (p.Asp1329Glu) c.3951C>A (p.Asp1317Glu) | |
19 | g.7117216T>A | CA403668532 | INSR | c.3989A>T (p.Asp1330Val) c.3953A>T (p.Asp1318Val) c.4064A>T (p.Asp1355Val) c.4028A>T (p.Asp1343Val) c.3986A>T (p.Asp1329Val) c.3950A>T (p.Asp1317Val) | |
19 | g.7117216T>C | CA403668533 | INSR | c.3989A>G (p.Asp1330Gly) c.3953A>G (p.Asp1318Gly) c.4064A>G (p.Asp1355Gly) c.4028A>G (p.Asp1343Gly) c.3986A>G (p.Asp1329Gly) c.3950A>G (p.Asp1317Gly) | dbSNP gnomAD v4 |
19 | g.7117216T>G | CA403668534 | INSR | c.3989A>C (p.Asp1330Ala) c.3953A>C (p.Asp1318Ala) c.4064A>C (p.Asp1355Ala) c.4028A>C (p.Asp1343Ala) c.3986A>C (p.Asp1329Ala) c.3950A>C (p.Asp1317Ala) | |
19 | g.7117216T= | CA2320763711 | INSR | c.3989A= (p.Asp1330=) c.3953A= (p.Asp1318=) c.4064A= (p.Asp1355=) c.4028A= (p.Asp1343=) c.3986A= (p.Asp1329=) c.3950A= (p.Asp1317=) | |
19 | g.7117217C>A | CA403668535 | INSR | c.3988G>T (p.Asp1330Tyr) c.3952G>T (p.Asp1318Tyr) c.4063G>T (p.Asp1355Tyr) c.4027G>T (p.Asp1343Tyr) c.3985G>T (p.Asp1329Tyr) c.3949G>T (p.Asp1317Tyr) | |
19 | g.7117217C>G | CA403668536 | INSR | c.3988G>C (p.Asp1330His) c.3952G>C (p.Asp1318His) c.4063G>C (p.Asp1355His) c.4027G>C (p.Asp1343His) c.3985G>C (p.Asp1329His) c.3949G>C (p.Asp1317His) | |
19 | g.7117217C>T | CA403668537 | INSR | c.3988G>A (p.Asp1330Asn) c.3952G>A (p.Asp1318Asn) c.4063G>A (p.Asp1355Asn) c.4027G>A (p.Asp1343Asn) c.3985G>A (p.Asp1329Asn) c.3949G>A (p.Asp1317Asn) | |
19 | g.7117218C>A | CA505400067 | INSR | c.3987G>T (p.Leu1329=) c.3951G>T (p.Leu1317=) c.4062G>T (p.Leu1354=) c.4026G>T (p.Leu1342=) c.3984G>T (p.Leu1328=) c.3948G>T (p.Leu1316=) | |
19 | g.7117218C>G | CA505400068 | INSR | c.3987G>C (p.Leu1329=) c.3951G>C (p.Leu1317=) c.4062G>C (p.Leu1354=) c.4026G>C (p.Leu1342=) c.3984G>C (p.Leu1328=) c.3948G>C (p.Leu1316=) | |
19 | g.7117218C>T | CA505400069 | INSR | c.3987G>A (p.Leu1329=) c.3951G>A (p.Leu1317=) c.4062G>A (p.Leu1354=) c.4026G>A (p.Leu1342=) c.3984G>A (p.Leu1328=) c.3948G>A (p.Leu1316=) | |
19 | g.7117219A>C | CA403668540 | INSR | c.3986T>G (p.Leu1329Arg) c.3950T>G (p.Leu1317Arg) c.4061T>G (p.Leu1354Arg) c.4025T>G (p.Leu1342Arg) c.3983T>G (p.Leu1328Arg) c.3947T>G (p.Leu1316Arg) | |
19 | g.7117219A>G | CA403668538 | INSR | c.3986T>C (p.Leu1329Pro) c.3950T>C (p.Leu1317Pro) c.4061T>C (p.Leu1354Pro) c.4025T>C (p.Leu1342Pro) c.3983T>C (p.Leu1328Pro) c.3947T>C (p.Leu1316Pro) | gnomAD v4 |
19 | g.7117219A>T | CA403668539 | INSR | c.3986T>A (p.Leu1329Gln) c.3950T>A (p.Leu1317Gln) c.4061T>A (p.Leu1354Gln) c.4025T>A (p.Leu1342Gln) c.3983T>A (p.Leu1328Gln) c.3947T>A (p.Leu1316Gln) | |
19 | g.7117220G>A | CA505400070 | INSR | c.3985C>T (p.Leu1329=) c.3949C>T (p.Leu1317=) c.4060C>T (p.Leu1354=) c.4024C>T (p.Leu1342=) c.3982C>T (p.Leu1328=) c.3946C>T (p.Leu1316=) | |
19 | g.7117220G>C | CA403668541 | INSR | c.3985C>G (p.Leu1329Val) c.3949C>G (p.Leu1317Val) c.4060C>G (p.Leu1354Val) c.4024C>G (p.Leu1342Val) c.3982C>G (p.Leu1328Val) c.3946C>G (p.Leu1316Val) | |
19 | g.7117220G>T | CA403668542 | INSR | c.3985C>A (p.Leu1329Met) c.3949C>A (p.Leu1317Met) c.4060C>A (p.Leu1354Met) c.4024C>A (p.Leu1342Met) c.3982C>A (p.Leu1328Met) c.3946C>A (p.Leu1316Met) | COSMIC COSMIC |
19 | g.7117221G>A | CA505400071 | INSR | c.3984C>T (p.Pro1328=) c.3948C>T (p.Pro1316=) c.4059C>T (p.Pro1353=) c.4023C>T (p.Pro1341=) c.3981C>T (p.Pro1327=) c.3945C>T (p.Pro1315=) | dbSNP |
19 | g.7117221G>C | CA505400072 | INSR | c.3984C>G (p.Pro1328=) c.3948C>G (p.Pro1316=) c.4059C>G (p.Pro1353=) c.4023C>G (p.Pro1341=) c.3981C>G (p.Pro1327=) c.3945C>G (p.Pro1315=) | |
19 | g.7117221G= | CA2320763712 | INSR | c.3984C= (p.Pro1328=) c.3948C= (p.Pro1316=) c.4059C= (p.Pro1353=) c.4023C= (p.Pro1341=) c.3981C= (p.Pro1327=) c.3945C= (p.Pro1315=) | |
19 | g.7117221G>T | CA505400073 | INSR | c.3984C>A (p.Pro1328=) c.3948C>A (p.Pro1316=) c.4059C>A (p.Pro1353=) c.4023C>A (p.Pro1341=) c.3981C>A (p.Pro1327=) c.3945C>A (p.Pro1315=) | gnomAD v4 |
19 | g.7117222G>A | CA403668543 | INSR | c.3983C>T (p.Pro1328Leu) c.3947C>T (p.Pro1316Leu) c.4058C>T (p.Pro1353Leu) c.4022C>T (p.Pro1341Leu) c.3980C>T (p.Pro1327Leu) c.3944C>T (p.Pro1315Leu) | dbSNP gnomAD v4 |
19 | g.7117222G>C | CA403668544 | INSR | c.3983C>G (p.Pro1328Arg) c.3947C>G (p.Pro1316Arg) c.4058C>G (p.Pro1353Arg) c.4022C>G (p.Pro1341Arg) c.3980C>G (p.Pro1327Arg) c.3944C>G (p.Pro1315Arg) | gnomAD v4 |
19 | g.7117222G= | CA2320763713 | INSR | c.3983C= (p.Pro1328=) c.3947C= (p.Pro1316=) c.4058C= (p.Pro1353=) c.4022C= (p.Pro1341=) c.3980C= (p.Pro1327=) c.3944C= (p.Pro1315=) | |
19 | g.7117222G>T | CA403668545 | INSR | c.3983C>A (p.Pro1328His) c.3947C>A (p.Pro1316His) c.4058C>A (p.Pro1353His) c.4022C>A (p.Pro1341His) c.3980C>A (p.Pro1327His) c.3944C>A (p.Pro1315His) | |
19 | g.7117223G>A | CA403668546 | INSR | c.3982C>T (p.Pro1328Ser) c.3946C>T (p.Pro1316Ser) c.4057C>T (p.Pro1353Ser) c.4021C>T (p.Pro1341Ser) c.3979C>T (p.Pro1327Ser) c.3943C>T (p.Pro1315Ser) | gnomAD v4 |
19 | g.7117223G>C | CA403668548 | INSR | c.3982C>G (p.Pro1328Ala) c.3946C>G (p.Pro1316Ala) c.4057C>G (p.Pro1353Ala) c.4021C>G (p.Pro1341Ala) c.3979C>G (p.Pro1327Ala) c.3943C>G (p.Pro1315Ala) | |
19 | g.7117223G>T | CA403668547 | INSR | c.3982C>A (p.Pro1328Thr) c.3946C>A (p.Pro1316Thr) c.4057C>A (p.Pro1353Thr) c.4021C>A (p.Pro1341Thr) c.3979C>A (p.Pro1327Thr) c.3943C>A (p.Pro1315Thr) | |
19 | g.7117224C>A | CA505400074 | INSR | c.3981G>T (p.Val1327=) c.3945G>T (p.Val1315=) c.4056G>T (p.Val1352=) c.4020G>T (p.Val1340=) c.3978G>T (p.Val1326=) c.3942G>T (p.Val1314=) | |
19 | g.7117224C>G | CA505400075 | INSR | c.3981G>C (p.Val1327=) c.3945G>C (p.Val1315=) c.4056G>C (p.Val1352=) c.4020G>C (p.Val1340=) c.3978G>C (p.Val1326=) c.3942G>C (p.Val1314=) | |
19 | g.7117224C>T | CA505400076 | INSR | c.3981G>A (p.Val1327=) c.3945G>A (p.Val1315=) c.4056G>A (p.Val1352=) c.4020G>A (p.Val1340=) c.3978G>A (p.Val1326=) c.3942G>A (p.Val1314=) | |
19 | g.7117225A>C | CA403668549 | INSR | c.3980T>G (p.Val1327Gly) c.3944T>G (p.Val1315Gly) c.4055T>G (p.Val1352Gly) c.4019T>G (p.Val1340Gly) c.3977T>G (p.Val1326Gly) c.3941T>G (p.Val1314Gly) | |
19 | g.7117225A>G | CA403668550 | INSR | c.3980T>C (p.Val1327Ala) c.3944T>C (p.Val1315Ala) c.4055T>C (p.Val1352Ala) c.4019T>C (p.Val1340Ala) c.3977T>C (p.Val1326Ala) c.3941T>C (p.Val1314Ala) | |
19 | g.7117225A>T | CA403668551 | INSR | c.3980T>A (p.Val1327Glu) c.3944T>A (p.Val1315Glu) c.4055T>A (p.Val1352Glu) c.4019T>A (p.Val1340Glu) c.3977T>A (p.Val1326Glu) c.3941T>A (p.Val1314Glu) | |
19 | g.7117226C>A | CA403668552 | INSR | c.3979G>T (p.Val1327Leu) c.3943G>T (p.Val1315Leu) c.4054G>T (p.Val1352Leu) c.4018G>T (p.Val1340Leu) c.3976G>T (p.Val1326Leu) c.3940G>T (p.Val1314Leu) | |
19 | g.7117226C>G | CA403668553 | INSR | c.3979G>C (p.Val1327Leu) c.3943G>C (p.Val1315Leu) c.4054G>C (p.Val1352Leu) c.4018G>C (p.Val1340Leu) c.3976G>C (p.Val1326Leu) c.3940G>C (p.Val1314Leu) | |
19 | g.7117226C>T | CA403668554 | INSR | c.3979G>A (p.Val1327Met) c.3943G>A (p.Val1315Met) c.4054G>A (p.Val1352Met) c.4018G>A (p.Val1340Met) c.3976G>A (p.Val1326Met) c.3940G>A (p.Val1314Met) | |
19 | g.7117227A>C | CA403668555 | INSR | c.3978T>G (p.Asn1326Lys) c.3942T>G (p.Asn1314Lys) c.4053T>G (p.Asn1351Lys) c.4017T>G (p.Asn1339Lys) c.3975T>G (p.Asn1325Lys) c.3939T>G (p.Asn1313Lys) | |
19 | g.7117227A>G | CA505400077 | INSR | c.3978T>C (p.Asn1326=) c.3942T>C (p.Asn1314=) c.4053T>C (p.Asn1351=) c.4017T>C (p.Asn1339=) c.3975T>C (p.Asn1325=) c.3939T>C (p.Asn1313=) | |
19 | g.7117227A>T | CA403668556 | INSR | c.3978T>A (p.Asn1326Lys) c.3942T>A (p.Asn1314Lys) c.4053T>A (p.Asn1351Lys) c.4017T>A (p.Asn1339Lys) c.3975T>A (p.Asn1325Lys) c.3939T>A (p.Asn1313Lys) | |
19 | g.7117228T>A | CA403668557 | INSR | c.3977A>T (p.Asn1326Ile) c.3941A>T (p.Asn1314Ile) c.4052A>T (p.Asn1351Ile) c.4016A>T (p.Asn1339Ile) c.3974A>T (p.Asn1325Ile) c.3938A>T (p.Asn1313Ile) | |
19 | g.7117228T>C | CA9135112 | INSR | c.3977A>G (p.Asn1326Ser) c.3941A>G (p.Asn1314Ser) c.4052A>G (p.Asn1351Ser) c.4016A>G (p.Asn1339Ser) c.3974A>G (p.Asn1325Ser) c.3938A>G (p.Asn1313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117228T>G | CA403668558 | INSR | c.3977A>C (p.Asn1326Thr) c.3941A>C (p.Asn1314Thr) c.4052A>C (p.Asn1351Thr) c.4016A>C (p.Asn1339Thr) c.3974A>C (p.Asn1325Thr) c.3938A>C (p.Asn1313Thr) | |
19 | g.7117228T= | CA2320763714 | INSR | c.3977A= (p.Asn1326=) c.3941A= (p.Asn1314=) c.4052A= (p.Asn1351=) c.4016A= (p.Asn1339=) c.3974A= (p.Asn1325=) c.3938A= (p.Asn1313=) | |
19 | g.7117229T>A | CA403668559 | INSR | c.3976A>T (p.Asn1326Tyr) c.3940A>T (p.Asn1314Tyr) c.4051A>T (p.Asn1351Tyr) c.4015A>T (p.Asn1339Tyr) c.3973A>T (p.Asn1325Tyr) c.3937A>T (p.Asn1313Tyr) | |
19 | g.7117229T>C | CA403668561 | INSR | c.3976A>G (p.Asn1326Asp) c.3940A>G (p.Asn1314Asp) c.4051A>G (p.Asn1351Asp) c.4015A>G (p.Asn1339Asp) c.3973A>G (p.Asn1325Asp) c.3937A>G (p.Asn1313Asp) | |
19 | g.7117229T>G | CA403668560 | INSR | c.3976A>C (p.Asn1326His) c.3940A>C (p.Asn1314His) c.4051A>C (p.Asn1351His) c.4015A>C (p.Asn1339His) c.3973A>C (p.Asn1325His) c.3937A>C (p.Asn1313His) | |
19 | g.7117230C>A | CA403668562 | INSR | c.3975G>T (p.Glu1325Asp) c.3939G>T (p.Glu1313Asp) c.4050G>T (p.Glu1350Asp) c.4014G>T (p.Glu1338Asp) c.3972G>T (p.Glu1324Asp) c.3936G>T (p.Glu1312Asp) | |
19 | g.7117230C>G | CA403668563 | INSR | c.3975G>C (p.Glu1325Asp) c.3939G>C (p.Glu1313Asp) c.4050G>C (p.Glu1350Asp) c.4014G>C (p.Glu1338Asp) c.3972G>C (p.Glu1324Asp) c.3936G>C (p.Glu1312Asp) | |
19 | g.7117230C>T | CA505400078 | INSR | c.3975G>A (p.Glu1325=) c.3939G>A (p.Glu1313=) c.4050G>A (p.Glu1350=) c.4014G>A (p.Glu1338=) c.3972G>A (p.Glu1324=) c.3936G>A (p.Glu1312=) | |
19 | g.7117231T>A | CA403668564 | INSR | c.3974A>T (p.Glu1325Val) c.3938A>T (p.Glu1313Val) c.4049A>T (p.Glu1350Val) c.4013A>T (p.Glu1338Val) c.3971A>T (p.Glu1324Val) c.3935A>T (p.Glu1312Val) | |
19 | g.7117231T>C | CA403668566 | INSR | c.3974A>G (p.Glu1325Gly) c.3938A>G (p.Glu1313Gly) c.4049A>G (p.Glu1350Gly) c.4013A>G (p.Glu1338Gly) c.3971A>G (p.Glu1324Gly) c.3935A>G (p.Glu1312Gly) | |
19 | g.7117231T>G | CA403668565 | INSR | c.3974A>C (p.Glu1325Ala) c.3938A>C (p.Glu1313Ala) c.4049A>C (p.Glu1350Ala) c.4013A>C (p.Glu1338Ala) c.3971A>C (p.Glu1324Ala) c.3935A>C (p.Glu1312Ala) | |
19 | g.7117232C>A | CA403668567 | INSR | c.3973G>T (p.Glu1325Ter) c.3937G>T (p.Glu1313Ter) c.4048G>T (p.Glu1350Ter) c.4012G>T (p.Glu1338Ter) c.3970G>T (p.Glu1324Ter) c.3934G>T (p.Glu1312Ter) | |
19 | g.7117232C>G | CA403668568 | INSR | c.3973G>C (p.Glu1325Gln) c.3937G>C (p.Glu1313Gln) c.4048G>C (p.Glu1350Gln) c.4012G>C (p.Glu1338Gln) c.3970G>C (p.Glu1324Gln) c.3934G>C (p.Glu1312Gln) | |
19 | g.7117232C>T | CA403668569 | INSR | c.3973G>A (p.Glu1325Lys) c.3937G>A (p.Glu1313Lys) c.4048G>A (p.Glu1350Lys) c.4012G>A (p.Glu1338Lys) c.3970G>A (p.Glu1324Lys) c.3934G>A (p.Glu1312Lys) | |
19 | g.7117233C>A | CA403668570 | INSR | c.3972G>T (p.Met1324Ile) c.3936G>T (p.Met1312Ile) c.4047G>T (p.Met1349Ile) c.4011G>T (p.Met1337Ile) c.3969G>T (p.Met1323Ile) c.3933G>T (p.Met1311Ile) | |
19 | g.7117233C>G | CA403668571 | INSR | c.3972G>C (p.Met1324Ile) c.3936G>C (p.Met1312Ile) c.4047G>C (p.Met1349Ile) c.4011G>C (p.Met1337Ile) c.3969G>C (p.Met1323Ile) c.3933G>C (p.Met1311Ile) | |
19 | g.7117233C>T | CA403668572 | INSR | c.3972G>A (p.Met1324Ile) c.3936G>A (p.Met1312Ile) c.4047G>A (p.Met1349Ile) c.4011G>A (p.Met1337Ile) c.3969G>A (p.Met1323Ile) c.3933G>A (p.Met1311Ile) | gnomAD v4 |
19 | g.7117234A= | CA2320763715 | INSR | c.3971T= (p.Met1324=) c.3935T= (p.Met1312=) c.4046T= (p.Met1349=) c.4010T= (p.Met1337=) c.3968T= (p.Met1323=) c.3932T= (p.Met1311=) | |
19 | g.7117234A>C | CA403668575 | INSR | c.3971T>G (p.Met1324Arg) c.3935T>G (p.Met1312Arg) c.4046T>G (p.Met1349Arg) c.4010T>G (p.Met1337Arg) c.3968T>G (p.Met1323Arg) c.3932T>G (p.Met1311Arg) | |
19 | g.7117234A>G | CA403668573 | INSR | c.3971T>C (p.Met1324Thr) c.3935T>C (p.Met1312Thr) c.4046T>C (p.Met1349Thr) c.4010T>C (p.Met1337Thr) c.3968T>C (p.Met1323Thr) c.3932T>C (p.Met1311Thr) | |
19 | g.7117234A>T | CA403668574 | INSR | c.3971T>A (p.Met1324Lys) c.3935T>A (p.Met1312Lys) c.4046T>A (p.Met1349Lys) c.4010T>A (p.Met1337Lys) c.3968T>A (p.Met1323Lys) c.3932T>A (p.Met1311Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117235T>A | CA403668576 | INSR | c.3970A>T (p.Met1324Leu) c.3934A>T (p.Met1312Leu) c.4045A>T (p.Met1349Leu) c.4009A>T (p.Met1337Leu) c.3967A>T (p.Met1323Leu) c.3931A>T (p.Met1311Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117235T>C | CA403668577 | INSR | c.3970A>G (p.Met1324Val) c.3934A>G (p.Met1312Val) c.4045A>G (p.Met1349Val) c.4009A>G (p.Met1337Val) c.3967A>G (p.Met1323Val) c.3931A>G (p.Met1311Val) | gnomAD v4 |
19 | g.7117235T>G | CA403668578 | INSR | c.3970A>C (p.Met1324Leu) c.3934A>C (p.Met1312Leu) c.4045A>C (p.Met1349Leu) c.4009A>C (p.Met1337Leu) c.3967A>C (p.Met1323Leu) c.3931A>C (p.Met1311Leu) | gnomAD v4 |
19 | g.7117235T= | CA2320763718 | INSR | c.3970A= (p.Met1324=) c.3934A= (p.Met1312=) c.4045A= (p.Met1349=) c.4009A= (p.Met1337=) c.3967A= (p.Met1323=) c.3931A= (p.Met1311=) | |
19 | g.7117235_7117239delinsTGTCC | CA2320763717 | INSR | c.3966_3970delinsGGACA (p.Glu1322=) c.3930_3934delinsGGACA (p.Glu1310=) c.4041_4045delinsGGACA (p.Glu1347=) c.4005_4009delinsGGACA (p.Glu1335=) c.3963_3967delinsGGACA (p.Glu1321=) c.3927_3931delinsGGACA (p.Glu1309=) | |
19 | g.7117236G>A | CA505400079 | INSR | c.3969C>T (p.Asp1323=) c.3933C>T (p.Asp1311=) c.4044C>T (p.Asp1348=) c.4008C>T (p.Asp1336=) c.3966C>T (p.Asp1322=) c.3930C>T (p.Asp1310=) | gnomAD v4 |
19 | g.7117236G>C | CA403668579 | INSR | c.3969C>G (p.Asp1323Glu) c.3933C>G (p.Asp1311Glu) c.4044C>G (p.Asp1348Glu) c.4008C>G (p.Asp1336Glu) c.3966C>G (p.Asp1322Glu) c.3930C>G (p.Asp1310Glu) | |
19 | g.7117236G= | CA2320763720 | INSR | c.3969C= (p.Asp1323=) c.3933C= (p.Asp1311=) c.4044C= (p.Asp1348=) c.4008C= (p.Asp1336=) c.3966C= (p.Asp1322=) c.3930C= (p.Asp1310=) | |
19 | g.7117236G>T | CA304866553 | INSR | c.3969C>A (p.Asp1323Glu) c.3933C>A (p.Asp1311Glu) c.4044C>A (p.Asp1348Glu) c.4008C>A (p.Asp1336Glu) c.3966C>A (p.Asp1322Glu) c.3930C>A (p.Asp1310Glu) | dbSNP gnomAD v4 |
19 | g.7117236_7117239del | CA631723531 | INSR | c.3966_3969del (p.Asp1323TrpfsTer?) c.3930_3933del (p.Asp1311TrpfsTer?) c.4041_4044del (p.Asp1348TrpfsTer?) c.4005_4008del (p.Asp1336TrpfsTer?) c.3963_3966del (p.Asp1322TrpfsTer?) c.3927_3930del (p.Asp1310TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117237T>A | CA403668580 | INSR | c.3968A>T (p.Asp1323Val) c.3932A>T (p.Asp1311Val) c.4043A>T (p.Asp1348Val) c.4007A>T (p.Asp1336Val) c.3965A>T (p.Asp1322Val) c.3929A>T (p.Asp1310Val) | |
19 | g.7117237T>C | CA403668582 | INSR | c.3968A>G (p.Asp1323Gly) c.3932A>G (p.Asp1311Gly) c.4043A>G (p.Asp1348Gly) c.4007A>G (p.Asp1336Gly) c.3965A>G (p.Asp1322Gly) c.3929A>G (p.Asp1310Gly) | gnomAD v4 |
19 | g.7117237T>G | CA403668581 | INSR | c.3968A>C (p.Asp1323Ala) c.3932A>C (p.Asp1311Ala) c.4043A>C (p.Asp1348Ala) c.4007A>C (p.Asp1336Ala) c.3965A>C (p.Asp1322Ala) c.3929A>C (p.Asp1310Ala) | |
19 | g.7117238C>A | CA403668583 | INSR | c.3967G>T (p.Asp1323Tyr) c.3931G>T (p.Asp1311Tyr) c.4042G>T (p.Asp1348Tyr) c.4006G>T (p.Asp1336Tyr) c.3964G>T (p.Asp1322Tyr) c.3928G>T (p.Asp1310Tyr) | |
19 | g.7117238C>G | CA403668584 | INSR | c.3967G>C (p.Asp1323His) c.3931G>C (p.Asp1311His) c.4042G>C (p.Asp1348His) c.4006G>C (p.Asp1336His) c.3964G>C (p.Asp1322His) c.3928G>C (p.Asp1310His) | |
19 | g.7117238C>T | CA403668585 | INSR | c.3967G>A (p.Asp1323Asn) c.3931G>A (p.Asp1311Asn) c.4042G>A (p.Asp1348Asn) c.4006G>A (p.Asp1336Asn) c.3964G>A (p.Asp1322Asn) c.3928G>A (p.Asp1310Asn) | dbSNP gnomAD v4 |
19 | g.7117239C>A | CA403668586 | INSR | c.3966G>T (p.Glu1322Asp) c.3930G>T (p.Glu1310Asp) c.4041G>T (p.Glu1347Asp) c.4005G>T (p.Glu1335Asp) c.3963G>T (p.Glu1321Asp) c.3927G>T (p.Glu1309Asp) | |
19 | g.7117239C>G | CA403668587 | INSR | c.3966G>C (p.Glu1322Asp) c.3930G>C (p.Glu1310Asp) c.4041G>C (p.Glu1347Asp) c.4005G>C (p.Glu1335Asp) c.3963G>C (p.Glu1321Asp) c.3927G>C (p.Glu1309Asp) | |
19 | g.7117239C>T | CA505400080 | INSR | c.3966G>A (p.Glu1322=) c.3930G>A (p.Glu1310=) c.4041G>A (p.Glu1347=) c.4005G>A (p.Glu1335=) c.3963G>A (p.Glu1321=) c.3927G>A (p.Glu1309=) | dbSNP |
19 | g.7117240T>A | CA403668588 | INSR | c.3965A>T (p.Glu1322Val) c.3929A>T (p.Glu1310Val) c.4040A>T (p.Glu1347Val) c.4004A>T (p.Glu1335Val) c.3962A>T (p.Glu1321Val) c.3926A>T (p.Glu1309Val) | |
19 | g.7117240T>C | CA403668589 | INSR | c.3965A>G (p.Glu1322Gly) c.3929A>G (p.Glu1310Gly) c.4040A>G (p.Glu1347Gly) c.4004A>G (p.Glu1335Gly) c.3962A>G (p.Glu1321Gly) c.3926A>G (p.Glu1309Gly) | COSMIC COSMIC |
19 | g.7117240T>G | CA403668590 | INSR | c.3965A>C (p.Glu1322Ala) c.3929A>C (p.Glu1310Ala) c.4040A>C (p.Glu1347Ala) c.4004A>C (p.Glu1335Ala) c.3962A>C (p.Glu1321Ala) c.3926A>C (p.Glu1309Ala) | |
19 | g.7117241C>A | CA403668591 | INSR | c.3964G>T (p.Glu1322Ter) c.3928G>T (p.Glu1310Ter) c.4039G>T (p.Glu1347Ter) c.4003G>T (p.Glu1335Ter) c.3961G>T (p.Glu1321Ter) c.3925G>T (p.Glu1309Ter) | |
19 | g.7117241C>G | CA403668592 | INSR | c.3964G>C (p.Glu1322Gln) c.3928G>C (p.Glu1310Gln) c.4039G>C (p.Glu1347Gln) c.4003G>C (p.Glu1335Gln) c.3961G>C (p.Glu1321Gln) c.3925G>C (p.Glu1309Gln) | ClinVar dbSNP |
19 | g.7117241C>T | CA403668593 | INSR | c.3964G>A (p.Glu1322Lys) c.3928G>A (p.Glu1310Lys) c.4039G>A (p.Glu1347Lys) c.4003G>A (p.Glu1335Lys) c.3961G>A (p.Glu1321Lys) c.3925G>A (p.Glu1309Lys) | |
19 | g.7117242A>C | CA403668594 | INSR | c.3963T>G (p.Phe1321Leu) c.3927T>G (p.Phe1309Leu) c.4038T>G (p.Phe1346Leu) c.4002T>G (p.Phe1334Leu) c.3960T>G (p.Phe1320Leu) c.3924T>G (p.Phe1308Leu) | |
19 | g.7117242A>G | CA505400081 | INSR | c.3963T>C (p.Phe1321=) c.3927T>C (p.Phe1309=) c.4038T>C (p.Phe1346=) c.4002T>C (p.Phe1334=) c.3960T>C (p.Phe1320=) c.3924T>C (p.Phe1308=) | |
19 | g.7117242A>T | CA403668595 | INSR | c.3963T>A (p.Phe1321Leu) c.3927T>A (p.Phe1309Leu) c.4038T>A (p.Phe1346Leu) c.4002T>A (p.Phe1334Leu) c.3960T>A (p.Phe1320Leu) c.3924T>A (p.Phe1308Leu) | |
19 | g.7117243A>C | CA403668596 | INSR | c.3962T>G (p.Phe1321Cys) c.3926T>G (p.Phe1309Cys) c.4037T>G (p.Phe1346Cys) c.4001T>G (p.Phe1334Cys) c.3959T>G (p.Phe1320Cys) c.3923T>G (p.Phe1308Cys) | |
19 | g.7117243A>G | CA403668597 | INSR | c.3962T>C (p.Phe1321Ser) c.3926T>C (p.Phe1309Ser) c.4037T>C (p.Phe1346Ser) c.4001T>C (p.Phe1334Ser) c.3959T>C (p.Phe1320Ser) c.3923T>C (p.Phe1308Ser) | |
19 | g.7117243A>T | CA403668598 | INSR | c.3962T>A (p.Phe1321Tyr) c.3926T>A (p.Phe1309Tyr) c.4037T>A (p.Phe1346Tyr) c.4001T>A (p.Phe1334Tyr) c.3959T>A (p.Phe1320Tyr) c.3923T>A (p.Phe1308Tyr) | |
19 | g.7117244A>C | CA403668599 | INSR | c.3961T>G (p.Phe1321Val) c.3925T>G (p.Phe1309Val) c.4036T>G (p.Phe1346Val) c.4000T>G (p.Phe1334Val) c.3958T>G (p.Phe1320Val) c.3922T>G (p.Phe1308Val) | |
19 | g.7117244A>G | CA403668600 | INSR | c.3961T>C (p.Phe1321Leu) c.3925T>C (p.Phe1309Leu) c.4036T>C (p.Phe1346Leu) c.4000T>C (p.Phe1334Leu) c.3958T>C (p.Phe1320Leu) c.3922T>C (p.Phe1308Leu) | |
19 | g.7117244A>T | CA403668601 | INSR | c.3961T>A (p.Phe1321Ile) c.3925T>A (p.Phe1309Ile) c.4036T>A (p.Phe1346Ile) c.4000T>A (p.Phe1334Ile) c.3958T>A (p.Phe1320Ile) c.3922T>A (p.Phe1308Ile) | |
19 | g.7117245C>A | CA403668603 | INSR | c.3960G>T (p.Glu1320Asp) c.3924G>T (p.Glu1308Asp) c.4035G>T (p.Glu1345Asp) c.3999G>T (p.Glu1333Asp) c.3957G>T (p.Glu1319Asp) c.3921G>T (p.Glu1307Asp) | |
19 | g.7117245C>G | CA403668602 | INSR | c.3960G>C (p.Glu1320Asp) c.3924G>C (p.Glu1308Asp) c.4035G>C (p.Glu1345Asp) c.3999G>C (p.Glu1333Asp) c.3957G>C (p.Glu1319Asp) c.3921G>C (p.Glu1307Asp) | |
19 | g.7117245C>T | CA505400082 | INSR | c.3960G>A (p.Glu1320=) c.3924G>A (p.Glu1308=) c.4035G>A (p.Glu1345=) c.3999G>A (p.Glu1333=) c.3957G>A (p.Glu1319=) c.3921G>A (p.Glu1307=) | gnomAD v4 |
19 | g.7117250_7117255del | CA2587921002 | INSR | c.3955_3960del (p.Met1319_Glu1320del) c.3919_3924del (p.Met1307_Glu1308del) c.4030_4035del (p.Met1344_Glu1345del) c.3994_3999del (p.Met1332_Glu1333del) c.3952_3957del (p.Met1318_Glu1319del) c.3916_3921del (p.Met1306_Glu1307del) | gnomAD v4 |