Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7117082T>A | CA403668245 | INSR | c.4123A>T (p.Thr1375Ser) c.4087A>T (p.Thr1363Ser) c.4198A>T (p.Thr1400Ser) c.4162A>T (p.Thr1388Ser) c.4120A>T (p.Thr1374Ser) c.4084A>T (p.Thr1362Ser) | COSMIC COSMIC |
19 | g.7117082T>C | CA403668243 | INSR | c.4123A>G (p.Thr1375Ala) c.4087A>G (p.Thr1363Ala) c.4198A>G (p.Thr1400Ala) c.4162A>G (p.Thr1388Ala) c.4120A>G (p.Thr1374Ala) c.4084A>G (p.Thr1362Ala) | |
19 | g.7117082T>G | CA403668244 | INSR | c.4123A>C (p.Thr1375Pro) c.4087A>C (p.Thr1363Pro) c.4198A>C (p.Thr1400Pro) c.4162A>C (p.Thr1388Pro) c.4120A>C (p.Thr1374Pro) c.4084A>C (p.Thr1362Pro) | |
19 | g.7117083C>A | CA505216070 | INSR | c.4122G>T (p.Leu1374=) c.4086G>T (p.Leu1362=) c.4197G>T (p.Leu1399=) c.4161G>T (p.Leu1387=) c.4119G>T (p.Leu1373=) c.4083G>T (p.Leu1361=) | dbSNP |
19 | g.7117083C= | CA2320763996 | INSR | c.4122G= (p.Leu1374=) c.4086G= (p.Leu1362=) c.4197G= (p.Leu1399=) c.4161G= (p.Leu1387=) c.4119G= (p.Leu1373=) c.4083G= (p.Leu1361=) | |
19 | g.7117083C>G | CA505216068 | INSR | c.4122G>C (p.Leu1374=) c.4086G>C (p.Leu1362=) c.4197G>C (p.Leu1399=) c.4161G>C (p.Leu1387=) c.4119G>C (p.Leu1373=) c.4083G>C (p.Leu1361=) | |
19 | g.7117083C>T | CA505216067 | INSR | c.4122G>A (p.Leu1374=) c.4086G>A (p.Leu1362=) c.4197G>A (p.Leu1399=) c.4161G>A (p.Leu1387=) c.4119G>A (p.Leu1373=) c.4083G>A (p.Leu1361=) | |
19 | g.7117084A>C | CA403668246 | INSR | c.4121T>G (p.Leu1374Arg) c.4085T>G (p.Leu1362Arg) c.4196T>G (p.Leu1399Arg) c.4160T>G (p.Leu1387Arg) c.4118T>G (p.Leu1373Arg) c.4082T>G (p.Leu1361Arg) | ClinVar |
19 | g.7117084A>G | CA403668247 | INSR | c.4121T>C (p.Leu1374Pro) c.4085T>C (p.Leu1362Pro) c.4196T>C (p.Leu1399Pro) c.4160T>C (p.Leu1387Pro) c.4118T>C (p.Leu1373Pro) c.4082T>C (p.Leu1361Pro) | |
19 | g.7117084A>T | CA403668248 | INSR | c.4121T>A (p.Leu1374Gln) c.4085T>A (p.Leu1362Gln) c.4196T>A (p.Leu1399Gln) c.4160T>A (p.Leu1387Gln) c.4118T>A (p.Leu1373Gln) c.4082T>A (p.Leu1361Gln) | |
19 | g.7117085G>A | CA505216072 | INSR | c.4120C>T (p.Leu1374=) c.4084C>T (p.Leu1362=) c.4195C>T (p.Leu1399=) c.4159C>T (p.Leu1387=) c.4117C>T (p.Leu1373=) c.4081C>T (p.Leu1361=) | dbSNP COSMIC COSMIC |
19 | g.7117085G>C | CA403668249 | INSR | c.4120C>G (p.Leu1374Val) c.4084C>G (p.Leu1362Val) c.4195C>G (p.Leu1399Val) c.4159C>G (p.Leu1387Val) c.4117C>G (p.Leu1373Val) c.4081C>G (p.Leu1361Val) | |
19 | g.7117085G= | CA2320763999 | INSR | c.4120C= (p.Leu1374=) c.4084C= (p.Leu1362=) c.4195C= (p.Leu1399=) c.4159C= (p.Leu1387=) c.4117C= (p.Leu1373=) c.4081C= (p.Leu1361=) | |
19 | g.7117085G>T | CA403668250 | INSR | c.4120C>A (p.Leu1374Met) c.4084C>A (p.Leu1362Met) c.4195C>A (p.Leu1399Met) c.4159C>A (p.Leu1387Met) c.4117C>A (p.Leu1373Met) c.4081C>A (p.Leu1361Met) | |
19 | g.7117086A>C | CA403668251 | INSR | c.4119T>G (p.Ile1373Met) c.4083T>G (p.Ile1361Met) c.4194T>G (p.Ile1398Met) c.4158T>G (p.Ile1386Met) c.4116T>G (p.Ile1372Met) c.4080T>G (p.Ile1360Met) | |
19 | g.7117086A>G | CA505216074 | INSR | c.4119T>C (p.Ile1373=) c.4083T>C (p.Ile1361=) c.4194T>C (p.Ile1398=) c.4158T>C (p.Ile1386=) c.4116T>C (p.Ile1372=) c.4080T>C (p.Ile1360=) | |
19 | g.7117086A>T | CA505216073 | INSR | c.4119T>A (p.Ile1373=) c.4083T>A (p.Ile1361=) c.4194T>A (p.Ile1398=) c.4158T>A (p.Ile1386=) c.4116T>A (p.Ile1372=) c.4080T>A (p.Ile1360=) | |
19 | g.7117087A>C | CA403668252 | INSR | c.4118T>G (p.Ile1373Ser) c.4082T>G (p.Ile1361Ser) c.4193T>G (p.Ile1398Ser) c.4157T>G (p.Ile1386Ser) c.4115T>G (p.Ile1372Ser) c.4079T>G (p.Ile1360Ser) | |
19 | g.7117087A>G | CA403668253 | INSR | c.4118T>C (p.Ile1373Thr) c.4082T>C (p.Ile1361Thr) c.4193T>C (p.Ile1398Thr) c.4157T>C (p.Ile1386Thr) c.4115T>C (p.Ile1372Thr) c.4079T>C (p.Ile1360Thr) | gnomAD v4 |
19 | g.7117087A>T | CA403668254 | INSR | c.4118T>A (p.Ile1373Asn) c.4082T>A (p.Ile1361Asn) c.4193T>A (p.Ile1398Asn) c.4157T>A (p.Ile1386Asn) c.4115T>A (p.Ile1372Asn) c.4079T>A (p.Ile1360Asn) | |
19 | g.7117088T>A | CA403668255 | INSR | c.4117A>T (p.Ile1373Phe) c.4081A>T (p.Ile1361Phe) c.4192A>T (p.Ile1398Phe) c.4156A>T (p.Ile1386Phe) c.4114A>T (p.Ile1372Phe) c.4078A>T (p.Ile1360Phe) | |
19 | g.7117088T>C | CA403668256 | INSR | c.4117A>G (p.Ile1373Val) c.4081A>G (p.Ile1361Val) c.4192A>G (p.Ile1398Val) c.4156A>G (p.Ile1386Val) c.4114A>G (p.Ile1372Val) c.4078A>G (p.Ile1360Val) | |
19 | g.7117088T>G | CA403668257 | INSR | c.4117A>C (p.Ile1373Leu) c.4081A>C (p.Ile1361Leu) c.4192A>C (p.Ile1398Leu) c.4156A>C (p.Ile1386Leu) c.4114A>C (p.Ile1372Leu) c.4078A>C (p.Ile1360Leu) | |
19 | g.7117089C>A | CA505216076 | INSR | c.4116G>T (p.Arg1372=) c.4080G>T (p.Arg1360=) c.4191G>T (p.Arg1397=) c.4155G>T (p.Arg1385=) c.4113G>T (p.Arg1371=) c.4077G>T (p.Arg1359=) | |
19 | g.7117089C= | CA2320764002 | INSR | c.4116G= (p.Arg1372=) c.4080G= (p.Arg1360=) c.4191G= (p.Arg1397=) c.4155G= (p.Arg1385=) c.4113G= (p.Arg1371=) c.4077G= (p.Arg1359=) | |
19 | g.7117089C>G | CA505216075 | INSR | c.4116G>C (p.Arg1372=) c.4080G>C (p.Arg1360=) c.4191G>C (p.Arg1397=) c.4155G>C (p.Arg1385=) c.4113G>C (p.Arg1371=) c.4077G>C (p.Arg1359=) | |
19 | g.7117089C>T | CA9135087 | INSR | c.4116G>A (p.Arg1372=) c.4080G>A (p.Arg1360=) c.4191G>A (p.Arg1397=) c.4155G>A (p.Arg1385=) c.4113G>A (p.Arg1371=) c.4077G>A (p.Arg1359=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117090C>A | CA403668258 | INSR | c.4115G>T (p.Arg1372Leu) c.4079G>T (p.Arg1360Leu) c.4190G>T (p.Arg1397Leu) c.4154G>T (p.Arg1385Leu) c.4112G>T (p.Arg1371Leu) c.4076G>T (p.Arg1359Leu) | |
19 | g.7117090C= | CA2320764004 | INSR | c.4115G= (p.Arg1372=) c.4079G= (p.Arg1360=) c.4190G= (p.Arg1397=) c.4154G= (p.Arg1385=) c.4112G= (p.Arg1371=) c.4076G= (p.Arg1359=) | |
19 | g.7117090C>G | CA403668259 | INSR | c.4115G>C (p.Arg1372Pro) c.4079G>C (p.Arg1360Pro) c.4190G>C (p.Arg1397Pro) c.4154G>C (p.Arg1385Pro) c.4112G>C (p.Arg1371Pro) c.4076G>C (p.Arg1359Pro) | |
19 | g.7117090C>T | CA9135088 | INSR | c.4115G>A (p.Arg1372Gln) c.4079G>A (p.Arg1360Gln) c.4190G>A (p.Arg1397Gln) c.4154G>A (p.Arg1385Gln) c.4112G>A (p.Arg1371Gln) c.4076G>A (p.Arg1359Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117091G>A | CA9135089 | INSR | c.4114C>T (p.Arg1372Trp) c.4078C>T (p.Arg1360Trp) c.4189C>T (p.Arg1397Trp) c.4153C>T (p.Arg1385Trp) c.4111C>T (p.Arg1371Trp) c.4075C>T (p.Arg1359Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117091G>C | CA403668260 | INSR | c.4114C>G (p.Arg1372Gly) c.4078C>G (p.Arg1360Gly) c.4189C>G (p.Arg1397Gly) c.4153C>G (p.Arg1385Gly) c.4111C>G (p.Arg1371Gly) c.4075C>G (p.Arg1359Gly) | |
19 | g.7117091G= | CA2320764005 | INSR | c.4114C= (p.Arg1372=) c.4078C= (p.Arg1360=) c.4189C= (p.Arg1397=) c.4153C= (p.Arg1385=) c.4111C= (p.Arg1371=) c.4075C= (p.Arg1359=) | |
19 | g.7117091G>T | CA505216077 | INSR | c.4114C>A (p.Arg1372=) c.4078C>A (p.Arg1360=) c.4189C>A (p.Arg1397=) c.4153C>A (p.Arg1385=) c.4111C>A (p.Arg1371=) c.4075C>A (p.Arg1359=) | |
19 | g.7117092C>A | CA505216079 | INSR | c.4113G>T (p.Gly1371=) c.4077G>T (p.Gly1359=) c.4188G>T (p.Gly1396=) c.4152G>T (p.Gly1384=) c.4110G>T (p.Gly1370=) c.4074G>T (p.Gly1358=) | |
19 | g.7117092C= | CA2320764008 | INSR | c.4113G= (p.Gly1371=) c.4077G= (p.Gly1359=) c.4188G= (p.Gly1396=) c.4152G= (p.Gly1384=) c.4110G= (p.Gly1370=) c.4074G= (p.Gly1358=) | |
19 | g.7117092C>G | CA505216078 | INSR | c.4113G>C (p.Gly1371=) c.4077G>C (p.Gly1359=) c.4188G>C (p.Gly1396=) c.4152G>C (p.Gly1384=) c.4110G>C (p.Gly1370=) c.4074G>C (p.Gly1358=) | |
19 | g.7117092C>T | CA304866303 | INSR | c.4113G>A (p.Gly1371=) c.4077G>A (p.Gly1359=) c.4188G>A (p.Gly1396=) c.4152G>A (p.Gly1384=) c.4110G>A (p.Gly1370=) c.4074G>A (p.Gly1358=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117093C>A | CA403668261 | INSR | c.4112G>T (p.Gly1371Val) c.4076G>T (p.Gly1359Val) c.4187G>T (p.Gly1396Val) c.4151G>T (p.Gly1384Val) c.4109G>T (p.Gly1370Val) c.4073G>T (p.Gly1358Val) | |
19 | g.7117093C>G | CA403668262 | INSR | c.4112G>C (p.Gly1371Ala) c.4076G>C (p.Gly1359Ala) c.4187G>C (p.Gly1396Ala) c.4151G>C (p.Gly1384Ala) c.4109G>C (p.Gly1370Ala) c.4073G>C (p.Gly1358Ala) | |
19 | g.7117093C>T | CA403668263 | INSR | c.4112G>A (p.Gly1371Glu) c.4076G>A (p.Gly1359Glu) c.4187G>A (p.Gly1396Glu) c.4151G>A (p.Gly1384Glu) c.4109G>A (p.Gly1370Glu) c.4073G>A (p.Gly1358Glu) | |
19 | g.7117094C>A | CA403668264 | INSR | c.4111G>T (p.Gly1371Trp) c.4075G>T (p.Gly1359Trp) c.4186G>T (p.Gly1396Trp) c.4150G>T (p.Gly1384Trp) c.4108G>T (p.Gly1370Trp) c.4072G>T (p.Gly1358Trp) | |
19 | g.7117094C= | CA2320764012 | INSR | c.4111G= (p.Gly1371=) c.4075G= (p.Gly1359=) c.4186G= (p.Gly1396=) c.4150G= (p.Gly1384=) c.4108G= (p.Gly1370=) c.4072G= (p.Gly1358=) | |
19 | g.7117094C>G | CA403668265 | INSR | c.4111G>C (p.Gly1371Arg) c.4075G>C (p.Gly1359Arg) c.4186G>C (p.Gly1396Arg) c.4150G>C (p.Gly1384Arg) c.4108G>C (p.Gly1370Arg) c.4072G>C (p.Gly1358Arg) | |
19 | g.7117094C>T | CA403668266 | INSR | c.4111G>A (p.Gly1371Arg) c.4075G>A (p.Gly1359Arg) c.4186G>A (p.Gly1396Arg) c.4150G>A (p.Gly1384Arg) c.4108G>A (p.Gly1370Arg) c.4072G>A (p.Gly1358Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117095G>A | CA9135090 | INSR | c.4110C>T (p.Asn1370=) c.4074C>T (p.Asn1358=) c.4185C>T (p.Asn1395=) c.4149C>T (p.Asn1383=) c.4107C>T (p.Asn1369=) c.4071C>T (p.Asn1357=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117095G>C | CA403668267 | INSR | c.4110C>G (p.Asn1370Lys) c.4074C>G (p.Asn1358Lys) c.4185C>G (p.Asn1395Lys) c.4149C>G (p.Asn1383Lys) c.4107C>G (p.Asn1369Lys) c.4071C>G (p.Asn1357Lys) | |
19 | g.7117095G= | CA2320764015 | INSR | c.4110C= (p.Asn1370=) c.4074C= (p.Asn1358=) c.4185C= (p.Asn1395=) c.4149C= (p.Asn1383=) c.4107C= (p.Asn1369=) c.4071C= (p.Asn1357=) | |
19 | g.7117095G>T | CA403668268 | INSR | c.4110C>A (p.Asn1370Lys) c.4074C>A (p.Asn1358Lys) c.4185C>A (p.Asn1395Lys) c.4149C>A (p.Asn1383Lys) c.4107C>A (p.Asn1369Lys) c.4071C>A (p.Asn1357Lys) | |
19 | g.7117096T>A | CA403668271 | INSR | c.4109A>T (p.Asn1370Ile) c.4073A>T (p.Asn1358Ile) c.4184A>T (p.Asn1395Ile) c.4148A>T (p.Asn1383Ile) c.4106A>T (p.Asn1369Ile) c.4070A>T (p.Asn1357Ile) | |
19 | g.7117096T>C | CA403668270 | INSR | c.4109A>G (p.Asn1370Ser) c.4073A>G (p.Asn1358Ser) c.4184A>G (p.Asn1395Ser) c.4148A>G (p.Asn1383Ser) c.4106A>G (p.Asn1369Ser) c.4070A>G (p.Asn1357Ser) | |
19 | g.7117096T>G | CA403668269 | INSR | c.4109A>C (p.Asn1370Thr) c.4073A>C (p.Asn1358Thr) c.4184A>C (p.Asn1395Thr) c.4148A>C (p.Asn1383Thr) c.4106A>C (p.Asn1369Thr) c.4070A>C (p.Asn1357Thr) | |
19 | g.7117100dup | CA2838709233 | INSR | c.4109dup (p.Asn1370LysfsTer?) c.4073dup (p.Asn1358LysfsTer?) c.4184dup (p.Asn1395LysfsTer?) c.4148dup (p.Asn1383LysfsTer?) c.4106dup (p.Asn1369LysfsTer?) c.4070dup (p.Asn1357LysfsTer?) | |
19 | g.7117097T>A | CA403668272 | INSR | c.4108A>T (p.Asn1370Tyr) c.4072A>T (p.Asn1358Tyr) c.4183A>T (p.Asn1395Tyr) c.4147A>T (p.Asn1383Tyr) c.4105A>T (p.Asn1369Tyr) c.4069A>T (p.Asn1357Tyr) | |
19 | g.7117097T>C | CA403668274 | INSR | c.4108A>G (p.Asn1370Asp) c.4072A>G (p.Asn1358Asp) c.4183A>G (p.Asn1395Asp) c.4147A>G (p.Asn1383Asp) c.4105A>G (p.Asn1369Asp) c.4069A>G (p.Asn1357Asp) | |
19 | g.7117097T>G | CA403668273 | INSR | c.4108A>C (p.Asn1370His) c.4072A>C (p.Asn1358His) c.4183A>C (p.Asn1395His) c.4147A>C (p.Asn1383His) c.4105A>C (p.Asn1369His) c.4069A>C (p.Asn1357His) | |
19 | g.7117098T>A | CA403668275 | INSR | c.4107A>T (p.Lys1369Asn) c.4071A>T (p.Lys1357Asn) c.4182A>T (p.Lys1394Asn) c.4146A>T (p.Lys1382Asn) c.4104A>T (p.Lys1368Asn) c.4068A>T (p.Lys1356Asn) | |
19 | g.7117098T>C | CA505216095 | INSR | c.4107A>G (p.Lys1369=) c.4071A>G (p.Lys1357=) c.4182A>G (p.Lys1394=) c.4146A>G (p.Lys1382=) c.4104A>G (p.Lys1368=) c.4068A>G (p.Lys1356=) | |
19 | g.7117098T>G | CA403668276 | INSR | c.4107A>C (p.Lys1369Asn) c.4071A>C (p.Lys1357Asn) c.4182A>C (p.Lys1394Asn) c.4146A>C (p.Lys1382Asn) c.4104A>C (p.Lys1368Asn) c.4068A>C (p.Lys1356Asn) | |
19 | g.7117099T>A | CA403668277 | INSR | c.4106A>T (p.Lys1369Ile) c.4070A>T (p.Lys1357Ile) c.4181A>T (p.Lys1394Ile) c.4145A>T (p.Lys1382Ile) c.4103A>T (p.Lys1368Ile) c.4067A>T (p.Lys1356Ile) | |
19 | g.7117099T>C | CA403668278 | INSR | c.4106A>G (p.Lys1369Arg) c.4070A>G (p.Lys1357Arg) c.4181A>G (p.Lys1394Arg) c.4145A>G (p.Lys1382Arg) c.4103A>G (p.Lys1368Arg) c.4067A>G (p.Lys1356Arg) | gnomAD v4 |
19 | g.7117099T>G | CA403668279 | INSR | c.4106A>C (p.Lys1369Thr) c.4070A>C (p.Lys1357Thr) c.4181A>C (p.Lys1394Thr) c.4145A>C (p.Lys1382Thr) c.4103A>C (p.Lys1368Thr) c.4067A>C (p.Lys1356Thr) | |
19 | g.7117100T>A | CA403668280 | INSR | c.4105A>T (p.Lys1369Ter) c.4069A>T (p.Lys1357Ter) c.4180A>T (p.Lys1394Ter) c.4144A>T (p.Lys1382Ter) c.4102A>T (p.Lys1368Ter) c.4066A>T (p.Lys1356Ter) | |
19 | g.7117100T>C | CA403668281 | INSR | c.4105A>G (p.Lys1369Glu) c.4069A>G (p.Lys1357Glu) c.4180A>G (p.Lys1394Glu) c.4144A>G (p.Lys1382Glu) c.4102A>G (p.Lys1368Glu) c.4066A>G (p.Lys1356Glu) | |
19 | g.7117100T>G | CA403668282 | INSR | c.4105A>C (p.Lys1369Gln) c.4069A>C (p.Lys1357Gln) c.4180A>C (p.Lys1394Gln) c.4144A>C (p.Lys1382Gln) c.4102A>C (p.Lys1368Gln) c.4066A>C (p.Lys1356Gln) | |
19 | g.7117101C>A | CA403668283 | INSR | c.4104G>T (p.Lys1368Asn) c.4068G>T (p.Lys1356Asn) c.4179G>T (p.Lys1393Asn) c.4143G>T (p.Lys1381Asn) c.4101G>T (p.Lys1367Asn) c.4065G>T (p.Lys1355Asn) | |
19 | g.7117101C>G | CA403668284 | INSR | c.4104G>C (p.Lys1368Asn) c.4068G>C (p.Lys1356Asn) c.4179G>C (p.Lys1393Asn) c.4143G>C (p.Lys1381Asn) c.4101G>C (p.Lys1367Asn) c.4065G>C (p.Lys1355Asn) | |
19 | g.7117101C>T | CA505216107 | INSR | c.4104G>A (p.Lys1368=) c.4068G>A (p.Lys1356=) c.4179G>A (p.Lys1393=) c.4143G>A (p.Lys1381=) c.4101G>A (p.Lys1367=) c.4065G>A (p.Lys1355=) | |
19 | g.7117102T>A | CA403668287 | INSR | c.4103A>T (p.Lys1368Met) c.4067A>T (p.Lys1356Met) c.4178A>T (p.Lys1393Met) c.4142A>T (p.Lys1381Met) c.4100A>T (p.Lys1367Met) c.4064A>T (p.Lys1355Met) | |
19 | g.7117102T>C | CA403668286 | INSR | c.4103A>G (p.Lys1368Arg) c.4067A>G (p.Lys1356Arg) c.4178A>G (p.Lys1393Arg) c.4142A>G (p.Lys1381Arg) c.4100A>G (p.Lys1367Arg) c.4064A>G (p.Lys1355Arg) | |
19 | g.7117102T>G | CA403668285 | INSR | c.4103A>C (p.Lys1368Thr) c.4067A>C (p.Lys1356Thr) c.4178A>C (p.Lys1393Thr) c.4142A>C (p.Lys1381Thr) c.4100A>C (p.Lys1367Thr) c.4064A>C (p.Lys1355Thr) | |
19 | g.7117103T>A | CA403668288 | INSR | c.4102A>T (p.Lys1368Ter) c.4066A>T (p.Lys1356Ter) c.4177A>T (p.Lys1393Ter) c.4141A>T (p.Lys1381Ter) c.4099A>T (p.Lys1367Ter) c.4063A>T (p.Lys1355Ter) | |
19 | g.7117103T>C | CA403668289 | INSR | c.4102A>G (p.Lys1368Glu) c.4066A>G (p.Lys1356Glu) c.4177A>G (p.Lys1393Glu) c.4141A>G (p.Lys1381Glu) c.4099A>G (p.Lys1367Glu) c.4063A>G (p.Lys1355Glu) | |
19 | g.7117103T>G | CA403668290 | INSR | c.4102A>C (p.Lys1368Gln) c.4066A>C (p.Lys1356Gln) c.4177A>C (p.Lys1393Gln) c.4141A>C (p.Lys1381Gln) c.4099A>C (p.Lys1367Gln) c.4063A>C (p.Lys1355Gln) | |
19 | g.7117104G>A | CA505216127 | INSR | c.4101C>T (p.Gly1367=) c.4065C>T (p.Gly1355=) c.4176C>T (p.Gly1392=) c.4140C>T (p.Gly1380=) c.4098C>T (p.Gly1366=) c.4062C>T (p.Gly1354=) | |
19 | g.7117104G>C | CA505216122 | INSR | c.4101C>G (p.Gly1367=) c.4065C>G (p.Gly1355=) c.4176C>G (p.Gly1392=) c.4140C>G (p.Gly1380=) c.4098C>G (p.Gly1366=) c.4062C>G (p.Gly1354=) | |
19 | g.7117104G= | CA2320764017 | INSR | c.4101C= (p.Gly1367=) c.4065C= (p.Gly1355=) c.4176C= (p.Gly1392=) c.4140C= (p.Gly1380=) c.4098C= (p.Gly1366=) c.4062C= (p.Gly1354=) | |
19 | g.7117104G>T | CA505216124 | INSR | c.4101C>A (p.Gly1367=) c.4065C>A (p.Gly1355=) c.4176C>A (p.Gly1392=) c.4140C>A (p.Gly1380=) c.4098C>A (p.Gly1366=) c.4062C>A (p.Gly1354=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117105C>A | CA403668291 | INSR | c.4100G>T (p.Gly1367Val) c.4064G>T (p.Gly1355Val) c.4175G>T (p.Gly1392Val) c.4139G>T (p.Gly1380Val) c.4097G>T (p.Gly1366Val) c.4061G>T (p.Gly1354Val) | |
19 | g.7117105C>G | CA403668292 | INSR | c.4100G>C (p.Gly1367Ala) c.4064G>C (p.Gly1355Ala) c.4175G>C (p.Gly1392Ala) c.4139G>C (p.Gly1380Ala) c.4097G>C (p.Gly1366Ala) c.4061G>C (p.Gly1354Ala) | |
19 | g.7117105C>T | CA403668293 | INSR | c.4100G>A (p.Gly1367Asp) c.4064G>A (p.Gly1355Asp) c.4175G>A (p.Gly1392Asp) c.4139G>A (p.Gly1380Asp) c.4097G>A (p.Gly1366Asp) c.4061G>A (p.Gly1354Asp) | gnomAD v4 COSMIC COSMIC |
19 | g.7117106C>A | CA403668294 | INSR | c.4099G>T (p.Gly1367Cys) c.4063G>T (p.Gly1355Cys) c.4174G>T (p.Gly1392Cys) c.4138G>T (p.Gly1380Cys) c.4096G>T (p.Gly1366Cys) c.4060G>T (p.Gly1354Cys) | |
19 | g.7117106C>G | CA403668295 | INSR | c.4099G>C (p.Gly1367Arg) c.4063G>C (p.Gly1355Arg) c.4174G>C (p.Gly1392Arg) c.4138G>C (p.Gly1380Arg) c.4096G>C (p.Gly1366Arg) c.4060G>C (p.Gly1354Arg) | |
19 | g.7117106C>T | CA403668296 | INSR | c.4099G>A (p.Gly1367Ser) c.4063G>A (p.Gly1355Ser) c.4174G>A (p.Gly1392Ser) c.4138G>A (p.Gly1380Ser) c.4096G>A (p.Gly1366Ser) c.4060G>A (p.Gly1354Ser) | |
19 | g.7117107T>A | CA505400002 | INSR | c.4098A>T (p.Gly1366=) c.4062A>T (p.Gly1354=) c.4173A>T (p.Gly1391=) c.4137A>T (p.Gly1379=) c.4095A>T (p.Gly1365=) c.4059A>T (p.Gly1353=) | |
19 | g.7117107T>C | CA505400003 | INSR | c.4098A>G (p.Gly1366=) c.4062A>G (p.Gly1354=) c.4173A>G (p.Gly1391=) c.4137A>G (p.Gly1379=) c.4095A>G (p.Gly1365=) c.4059A>G (p.Gly1353=) | |
19 | g.7117107T>G | CA505400004 | INSR | c.4098A>C (p.Gly1366=) c.4062A>C (p.Gly1354=) c.4173A>C (p.Gly1391=) c.4137A>C (p.Gly1379=) c.4095A>C (p.Gly1365=) c.4059A>C (p.Gly1353=) | |
19 | g.7117108C>A | CA403668297 | INSR | c.4097G>T (p.Gly1366Val) c.4061G>T (p.Gly1354Val) c.4172G>T (p.Gly1391Val) c.4136G>T (p.Gly1379Val) c.4094G>T (p.Gly1365Val) c.4058G>T (p.Gly1353Val) | |
19 | g.7117108C>G | CA403668298 | INSR | c.4097G>C (p.Gly1366Ala) c.4061G>C (p.Gly1354Ala) c.4172G>C (p.Gly1391Ala) c.4136G>C (p.Gly1379Ala) c.4094G>C (p.Gly1365Ala) c.4058G>C (p.Gly1353Ala) | |
19 | g.7117108C>T | CA403668299 | INSR | c.4097G>A (p.Gly1366Glu) c.4061G>A (p.Gly1354Glu) c.4172G>A (p.Gly1391Glu) c.4136G>A (p.Gly1379Glu) c.4094G>A (p.Gly1365Glu) c.4058G>A (p.Gly1353Glu) | |
19 | g.7117109C>A | CA403668302 | INSR | c.4096G>T (p.Gly1366Ter) c.4060G>T (p.Gly1354Ter) c.4171G>T (p.Gly1391Ter) c.4135G>T (p.Gly1379Ter) c.4093G>T (p.Gly1365Ter) c.4057G>T (p.Gly1353Ter) | |
19 | g.7117109C>G | CA403668301 | INSR | c.4096G>C (p.Gly1366Arg) c.4060G>C (p.Gly1354Arg) c.4171G>C (p.Gly1391Arg) c.4135G>C (p.Gly1379Arg) c.4093G>C (p.Gly1365Arg) c.4057G>C (p.Gly1353Arg) | |
19 | g.7117109C>T | CA403668300 | INSR | c.4096G>A (p.Gly1366Arg) c.4060G>A (p.Gly1354Arg) c.4171G>A (p.Gly1391Arg) c.4135G>A (p.Gly1379Arg) c.4093G>A (p.Gly1365Arg) c.4057G>A (p.Gly1353Arg) | gnomAD v4 COSMIC COSMIC |
19 | g.7117110G>A | CA304866304 | INSR | c.4095C>T (p.Asn1365=) c.4059C>T (p.Asn1353=) c.4170C>T (p.Asn1390=) c.4134C>T (p.Asn1378=) c.4092C>T (p.Asn1364=) c.4056C>T (p.Asn1352=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117110G>C | CA403668304 | INSR | c.4095C>G (p.Asn1365Lys) c.4059C>G (p.Asn1353Lys) c.4170C>G (p.Asn1390Lys) c.4134C>G (p.Asn1378Lys) c.4092C>G (p.Asn1364Lys) c.4056C>G (p.Asn1352Lys) | |
19 | g.7117110G= | CA2320764020 | INSR | c.4095C= (p.Asn1365=) c.4059C= (p.Asn1353=) c.4170C= (p.Asn1390=) c.4134C= (p.Asn1378=) c.4092C= (p.Asn1364=) c.4056C= (p.Asn1352=) | |
19 | g.7117110G>T | CA403668303 | INSR | c.4095C>A (p.Asn1365Lys) c.4059C>A (p.Asn1353Lys) c.4170C>A (p.Asn1390Lys) c.4134C>A (p.Asn1378Lys) c.4092C>A (p.Asn1364Lys) c.4056C>A (p.Asn1352Lys) | gnomAD v4 |
19 | g.7117111T>A | CA403668305 | INSR | c.4094A>T (p.Asn1365Ile) c.4058A>T (p.Asn1353Ile) c.4169A>T (p.Asn1390Ile) c.4133A>T (p.Asn1378Ile) c.4091A>T (p.Asn1364Ile) c.4055A>T (p.Asn1352Ile) | |
19 | g.7117111T>C | CA403668306 | INSR | c.4094A>G (p.Asn1365Ser) c.4058A>G (p.Asn1353Ser) c.4169A>G (p.Asn1390Ser) c.4133A>G (p.Asn1378Ser) c.4091A>G (p.Asn1364Ser) c.4055A>G (p.Asn1352Ser) | |
19 | g.7117111T>G | CA403668307 | INSR | c.4094A>C (p.Asn1365Thr) c.4058A>C (p.Asn1353Thr) c.4169A>C (p.Asn1390Thr) c.4133A>C (p.Asn1378Thr) c.4091A>C (p.Asn1364Thr) c.4055A>C (p.Asn1352Thr) | |
19 | g.7117112T>A | CA403668308 | INSR | c.4093A>T (p.Asn1365Tyr) c.4057A>T (p.Asn1353Tyr) c.4168A>T (p.Asn1390Tyr) c.4132A>T (p.Asn1378Tyr) c.4090A>T (p.Asn1364Tyr) c.4054A>T (p.Asn1352Tyr) | |
19 | g.7117112T>C | CA9135091 | INSR | c.4093A>G (p.Asn1365Asp) c.4057A>G (p.Asn1353Asp) c.4168A>G (p.Asn1390Asp) c.4132A>G (p.Asn1378Asp) c.4090A>G (p.Asn1364Asp) c.4054A>G (p.Asn1352Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117112T>G | CA403668309 | INSR | c.4093A>C (p.Asn1365His) c.4057A>C (p.Asn1353His) c.4168A>C (p.Asn1390His) c.4132A>C (p.Asn1378His) c.4090A>C (p.Asn1364His) c.4054A>C (p.Asn1352His) | |
19 | g.7117112T= | CA2320764022 | INSR | c.4093A= (p.Asn1365=) c.4057A= (p.Asn1353=) c.4168A= (p.Asn1390=) c.4132A= (p.Asn1378=) c.4090A= (p.Asn1364=) c.4054A= (p.Asn1352=) | |
19 | g.7117113C>A | CA403668310 | INSR | c.4092G>T (p.Met1364Ile) c.4056G>T (p.Met1352Ile) c.4167G>T (p.Met1389Ile) c.4131G>T (p.Met1377Ile) c.4089G>T (p.Met1363Ile) c.4053G>T (p.Met1351Ile) | |
19 | g.7117113C>G | CA403668311 | INSR | c.4092G>C (p.Met1364Ile) c.4056G>C (p.Met1352Ile) c.4167G>C (p.Met1389Ile) c.4131G>C (p.Met1377Ile) c.4089G>C (p.Met1363Ile) c.4053G>C (p.Met1351Ile) | |
19 | g.7117113C>T | CA403668312 | INSR | c.4092G>A (p.Met1364Ile) c.4056G>A (p.Met1352Ile) c.4167G>A (p.Met1389Ile) c.4131G>A (p.Met1377Ile) c.4089G>A (p.Met1363Ile) c.4053G>A (p.Met1351Ile) | gnomAD v4 |
19 | g.7117114A= | CA2320764026 | INSR | c.4091T= (p.Met1364=) c.4055T= (p.Met1352=) c.4166T= (p.Met1389=) c.4130T= (p.Met1377=) c.4088T= (p.Met1363=) c.4052T= (p.Met1351=) | |
19 | g.7117114A>C | CA403668313 | INSR | c.4091T>G (p.Met1364Arg) c.4055T>G (p.Met1352Arg) c.4166T>G (p.Met1389Arg) c.4130T>G (p.Met1377Arg) c.4088T>G (p.Met1363Arg) c.4052T>G (p.Met1351Arg) | |
19 | g.7117114A>G | CA403668314 | INSR | c.4091T>C (p.Met1364Thr) c.4055T>C (p.Met1352Thr) c.4166T>C (p.Met1389Thr) c.4130T>C (p.Met1377Thr) c.4088T>C (p.Met1363Thr) c.4052T>C (p.Met1351Thr) | dbSNP |
19 | g.7117114A>T | CA403668315 | INSR | c.4091T>A (p.Met1364Lys) c.4055T>A (p.Met1352Lys) c.4166T>A (p.Met1389Lys) c.4130T>A (p.Met1377Lys) c.4088T>A (p.Met1363Lys) c.4052T>A (p.Met1351Lys) | |
19 | g.7117115T>A | CA403668318 | INSR | c.4090A>T (p.Met1364Leu) c.4054A>T (p.Met1352Leu) c.4165A>T (p.Met1389Leu) c.4129A>T (p.Met1377Leu) c.4087A>T (p.Met1363Leu) c.4051A>T (p.Met1351Leu) | |
19 | g.7117115T>C | CA403668316 | INSR | c.4090A>G (p.Met1364Val) c.4054A>G (p.Met1352Val) c.4165A>G (p.Met1389Val) c.4129A>G (p.Met1377Val) c.4087A>G (p.Met1363Val) c.4051A>G (p.Met1351Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117115T>G | CA403668317 | INSR | c.4090A>C (p.Met1364Leu) c.4054A>C (p.Met1352Leu) c.4165A>C (p.Met1389Leu) c.4129A>C (p.Met1377Leu) c.4087A>C (p.Met1363Leu) c.4051A>C (p.Met1351Leu) | |
19 | g.7117115T= | CA2320764064 | INSR | c.4090A= (p.Met1364=) c.4054A= (p.Met1352=) c.4165A= (p.Met1389=) c.4129A= (p.Met1377=) c.4087A= (p.Met1363=) c.4051A= (p.Met1351=) | |
19 | g.7117122_7117123del | CA2813449711 | INSR | c.4089_4090del (p.Met1364GlufsTer?) c.4053_4054del (p.Met1352GlufsTer?) c.4164_4165del (p.Met1389GlufsTer?) c.4128_4129del (p.Met1377GlufsTer?) c.4086_4087del (p.Met1363GlufsTer?) c.4050_4051del (p.Met1351GlufsTer?) | |
19 | g.7117116G>A | CA9135092 | INSR | c.4089C>T (p.His1363=) c.4053C>T (p.His1351=) c.4164C>T (p.His1388=) c.4128C>T (p.His1376=) c.4086C>T (p.His1362=) c.4050C>T (p.His1350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117116G>C | CA403668319 | INSR | c.4089C>G (p.His1363Gln) c.4053C>G (p.His1351Gln) c.4164C>G (p.His1388Gln) c.4128C>G (p.His1376Gln) c.4086C>G (p.His1362Gln) c.4050C>G (p.His1350Gln) | |
19 | g.7117116G= | CA2320764071 | INSR | c.4089C= (p.His1363=) c.4053C= (p.His1351=) c.4164C= (p.His1388=) c.4128C= (p.His1376=) c.4086C= (p.His1362=) c.4050C= (p.His1350=) | |
19 | g.7117116G>T | CA403668320 | INSR | c.4089C>A (p.His1363Gln) c.4053C>A (p.His1351Gln) c.4164C>A (p.His1388Gln) c.4128C>A (p.His1376Gln) c.4086C>A (p.His1362Gln) c.4050C>A (p.His1350Gln) | |
19 | g.7117117T>A | CA403668321 | INSR | c.4088A>T (p.His1363Leu) c.4052A>T (p.His1351Leu) c.4163A>T (p.His1388Leu) c.4127A>T (p.His1376Leu) c.4085A>T (p.His1362Leu) c.4049A>T (p.His1350Leu) | |
19 | g.7117117T>C | CA403668322 | INSR | c.4088A>G (p.His1363Arg) c.4052A>G (p.His1351Arg) c.4163A>G (p.His1388Arg) c.4127A>G (p.His1376Arg) c.4085A>G (p.His1362Arg) c.4049A>G (p.His1350Arg) | |
19 | g.7117117T>G | CA403668323 | INSR | c.4088A>C (p.His1363Pro) c.4052A>C (p.His1351Pro) c.4163A>C (p.His1388Pro) c.4127A>C (p.His1376Pro) c.4085A>C (p.His1362Pro) c.4049A>C (p.His1350Pro) | |
19 | g.7117118G>A | CA403668324 | INSR | c.4087C>T (p.His1363Tyr) c.4051C>T (p.His1351Tyr) c.4162C>T (p.His1388Tyr) c.4126C>T (p.His1376Tyr) c.4084C>T (p.His1362Tyr) c.4048C>T (p.His1350Tyr) | gnomAD v4 |
19 | g.7117118G>C | CA403668325 | INSR | c.4087C>G (p.His1363Asp) c.4051C>G (p.His1351Asp) c.4162C>G (p.His1388Asp) c.4126C>G (p.His1376Asp) c.4084C>G (p.His1362Asp) c.4048C>G (p.His1350Asp) | |
19 | g.7117118G= | CA2320764073 | INSR | c.4087C= (p.His1363=) c.4051C= (p.His1351=) c.4162C= (p.His1388=) c.4126C= (p.His1376=) c.4084C= (p.His1362=) c.4048C= (p.His1350=) | |
19 | g.7117118G>T | CA403668326 | INSR | c.4087C>A (p.His1363Asn) c.4051C>A (p.His1351Asn) c.4162C>A (p.His1388Asn) c.4126C>A (p.His1376Asn) c.4084C>A (p.His1362Asn) c.4048C>A (p.His1350Asn) | dbSNP gnomAD v4 |
19 | g.7117119T>A | CA505400005 | INSR | c.4086A>T (p.Thr1362=) c.4050A>T (p.Thr1350=) c.4161A>T (p.Thr1387=) c.4125A>T (p.Thr1375=) c.4083A>T (p.Thr1361=) c.4047A>T (p.Thr1349=) | |
19 | g.7117119T>C | CA304866338 | INSR | c.4086A>G (p.Thr1362=) c.4050A>G (p.Thr1350=) c.4161A>G (p.Thr1387=) c.4125A>G (p.Thr1375=) c.4083A>G (p.Thr1361=) c.4047A>G (p.Thr1349=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117119T>G | CA505400006 | INSR | c.4086A>C (p.Thr1362=) c.4050A>C (p.Thr1350=) c.4161A>C (p.Thr1387=) c.4125A>C (p.Thr1375=) c.4083A>C (p.Thr1361=) c.4047A>C (p.Thr1349=) | |
19 | g.7117119T= | CA2320764076 | INSR | c.4086A= (p.Thr1362=) c.4050A= (p.Thr1350=) c.4161A= (p.Thr1387=) c.4125A= (p.Thr1375=) c.4083A= (p.Thr1361=) c.4047A= (p.Thr1349=) | |
19 | g.7117120G>A | CA403668327 | INSR | c.4085C>T (p.Thr1362Ile) c.4049C>T (p.Thr1350Ile) c.4160C>T (p.Thr1387Ile) c.4124C>T (p.Thr1375Ile) c.4082C>T (p.Thr1361Ile) c.4046C>T (p.Thr1349Ile) | gnomAD v4 |
19 | g.7117120G>C | CA403668328 | INSR | c.4085C>G (p.Thr1362Arg) c.4049C>G (p.Thr1350Arg) c.4160C>G (p.Thr1387Arg) c.4124C>G (p.Thr1375Arg) c.4082C>G (p.Thr1361Arg) c.4046C>G (p.Thr1349Arg) | |
19 | g.7117120G>T | CA403668329 | INSR | c.4085C>A (p.Thr1362Lys) c.4049C>A (p.Thr1350Lys) c.4160C>A (p.Thr1387Lys) c.4124C>A (p.Thr1375Lys) c.4082C>A (p.Thr1361Lys) c.4046C>A (p.Thr1349Lys) | |
19 | g.7117121T>A | CA403668331 | INSR | c.4084A>T (p.Thr1362Ser) c.4048A>T (p.Thr1350Ser) c.4159A>T (p.Thr1387Ser) c.4123A>T (p.Thr1375Ser) c.4081A>T (p.Thr1361Ser) c.4045A>T (p.Thr1349Ser) | |
19 | g.7117121T>C | CA403668332 | INSR | c.4084A>G (p.Thr1362Ala) c.4048A>G (p.Thr1350Ala) c.4159A>G (p.Thr1387Ala) c.4123A>G (p.Thr1375Ala) c.4081A>G (p.Thr1361Ala) c.4045A>G (p.Thr1349Ala) | dbSNP gnomAD v4 |
19 | g.7117121T>G | CA403668330 | INSR | c.4084A>C (p.Thr1362Pro) c.4048A>C (p.Thr1350Pro) c.4159A>C (p.Thr1387Pro) c.4123A>C (p.Thr1375Pro) c.4081A>C (p.Thr1361Pro) c.4045A>C (p.Thr1349Pro) | |
19 | g.7117121T= | CA2320764078 | INSR | c.4084A= (p.Thr1362=) c.4048A= (p.Thr1350=) c.4159A= (p.Thr1387=) c.4123A= (p.Thr1375=) c.4081A= (p.Thr1361=) c.4045A= (p.Thr1349=) | |
19 | g.7117122G>A | CA505400007 | INSR | c.4083C>T (p.Tyr1361=) c.4047C>T (p.Tyr1349=) c.4158C>T (p.Tyr1386=) c.4122C>T (p.Tyr1374=) c.4080C>T (p.Tyr1360=) c.4044C>T (p.Tyr1348=) | |
19 | g.7117122G>C | CA403668333 | INSR | c.4083C>G (p.Tyr1361Ter) c.4047C>G (p.Tyr1349Ter) c.4158C>G (p.Tyr1386Ter) c.4122C>G (p.Tyr1374Ter) c.4080C>G (p.Tyr1360Ter) c.4044C>G (p.Tyr1348Ter) | |
19 | g.7117122G>T | CA403668334 | INSR | c.4083C>A (p.Tyr1361Ter) c.4047C>A (p.Tyr1349Ter) c.4158C>A (p.Tyr1386Ter) c.4122C>A (p.Tyr1374Ter) c.4080C>A (p.Tyr1360Ter) c.4044C>A (p.Tyr1348Ter) | |
19 | g.7117123T>A | CA403668335 | INSR | c.4082A>T (p.Tyr1361Phe) c.4046A>T (p.Tyr1349Phe) c.4157A>T (p.Tyr1386Phe) c.4121A>T (p.Tyr1374Phe) c.4079A>T (p.Tyr1360Phe) c.4043A>T (p.Tyr1348Phe) | gnomAD v4 |
19 | g.7117123T>C | CA9135093 | INSR | c.4082A>G (p.Tyr1361Cys) c.4046A>G (p.Tyr1349Cys) c.4157A>G (p.Tyr1386Cys) c.4121A>G (p.Tyr1374Cys) c.4079A>G (p.Tyr1360Cys) c.4043A>G (p.Tyr1348Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117123T>G | CA403668336 | INSR | c.4082A>C (p.Tyr1361Ser) c.4046A>C (p.Tyr1349Ser) c.4157A>C (p.Tyr1386Ser) c.4121A>C (p.Tyr1374Ser) c.4079A>C (p.Tyr1360Ser) c.4043A>C (p.Tyr1348Ser) | |
19 | g.7117123T= | CA2320764087 | INSR | c.4082A= (p.Tyr1361=) c.4046A= (p.Tyr1349=) c.4157A= (p.Tyr1386=) c.4121A= (p.Tyr1374=) c.4079A= (p.Tyr1360=) c.4043A= (p.Tyr1348=) | |
19 | g.7117124A>C | CA403668337 | INSR | c.4081T>G (p.Tyr1361Asp) c.4045T>G (p.Tyr1349Asp) c.4156T>G (p.Tyr1386Asp) c.4120T>G (p.Tyr1374Asp) c.4078T>G (p.Tyr1360Asp) c.4042T>G (p.Tyr1348Asp) | |
19 | g.7117124A>G | CA403668339 | INSR | c.4081T>C (p.Tyr1361His) c.4045T>C (p.Tyr1349His) c.4156T>C (p.Tyr1386His) c.4120T>C (p.Tyr1374His) c.4078T>C (p.Tyr1360His) c.4042T>C (p.Tyr1348His) | gnomAD v4 |
19 | g.7117124A>T | CA403668338 | INSR | c.4081T>A (p.Tyr1361Asn) c.4045T>A (p.Tyr1349Asn) c.4156T>A (p.Tyr1386Asn) c.4120T>A (p.Tyr1374Asn) c.4078T>A (p.Tyr1360Asn) c.4042T>A (p.Tyr1348Asn) | |
19 | g.7117125A>C | CA505400008 | INSR | c.4080T>G (p.Pro1360=) c.4044T>G (p.Pro1348=) c.4155T>G (p.Pro1385=) c.4119T>G (p.Pro1373=) c.4077T>G (p.Pro1359=) c.4041T>G (p.Pro1347=) | |
19 | g.7117125A>G | CA505400010 | INSR | c.4080T>C (p.Pro1360=) c.4044T>C (p.Pro1348=) c.4155T>C (p.Pro1385=) c.4119T>C (p.Pro1373=) c.4077T>C (p.Pro1359=) c.4041T>C (p.Pro1347=) | |
19 | g.7117125A>T | CA505400009 | INSR | c.4080T>A (p.Pro1360=) c.4044T>A (p.Pro1348=) c.4155T>A (p.Pro1385=) c.4119T>A (p.Pro1373=) c.4077T>A (p.Pro1359=) c.4041T>A (p.Pro1347=) | |
19 | g.7117126G>A | CA403668340 | INSR | c.4079C>T (p.Pro1360Leu) c.4043C>T (p.Pro1348Leu) c.4154C>T (p.Pro1385Leu) c.4118C>T (p.Pro1373Leu) c.4076C>T (p.Pro1359Leu) c.4040C>T (p.Pro1347Leu) | dbSNP gnomAD v4 |
19 | g.7117126G>C | CA403668341 | INSR | c.4079C>G (p.Pro1360Arg) c.4043C>G (p.Pro1348Arg) c.4154C>G (p.Pro1385Arg) c.4118C>G (p.Pro1373Arg) c.4076C>G (p.Pro1359Arg) c.4040C>G (p.Pro1347Arg) | gnomAD v4 |
19 | g.7117126G= | CA2320764094 | INSR | c.4079C= (p.Pro1360=) c.4043C= (p.Pro1348=) c.4154C= (p.Pro1385=) c.4118C= (p.Pro1373=) c.4076C= (p.Pro1359=) c.4040C= (p.Pro1347=) | |
19 | g.7117126G>T | CA403668342 | INSR | c.4079C>A (p.Pro1360His) c.4043C>A (p.Pro1348His) c.4154C>A (p.Pro1385His) c.4118C>A (p.Pro1373His) c.4076C>A (p.Pro1359His) c.4040C>A (p.Pro1347His) | |
19 | g.7117127G>A | CA403668343 | INSR | c.4078C>T (p.Pro1360Ser) c.4042C>T (p.Pro1348Ser) c.4153C>T (p.Pro1385Ser) c.4117C>T (p.Pro1373Ser) c.4075C>T (p.Pro1359Ser) c.4039C>T (p.Pro1347Ser) | gnomAD v4 |
19 | g.7117127G>C | CA403668344 | INSR | c.4078C>G (p.Pro1360Ala) c.4042C>G (p.Pro1348Ala) c.4153C>G (p.Pro1385Ala) c.4117C>G (p.Pro1373Ala) c.4075C>G (p.Pro1359Ala) c.4039C>G (p.Pro1347Ala) | |
19 | g.7117127G>T | CA403668345 | INSR | c.4078C>A (p.Pro1360Thr) c.4042C>A (p.Pro1348Thr) c.4153C>A (p.Pro1385Thr) c.4117C>A (p.Pro1373Thr) c.4075C>A (p.Pro1359Thr) c.4039C>A (p.Pro1347Thr) | |
19 | g.7117128G>A | CA505400011 | INSR | c.4077C>T (p.Ile1359=) c.4041C>T (p.Ile1347=) c.4152C>T (p.Ile1384=) c.4116C>T (p.Ile1372=) c.4074C>T (p.Ile1358=) c.4038C>T (p.Ile1346=) | dbSNP COSMIC COSMIC |
19 | g.7117128G>C | CA403668346 | INSR | c.4077C>G (p.Ile1359Met) c.4041C>G (p.Ile1347Met) c.4152C>G (p.Ile1384Met) c.4116C>G (p.Ile1372Met) c.4074C>G (p.Ile1358Met) c.4038C>G (p.Ile1346Met) | |
19 | g.7117128G= | CA2320764099 | INSR | c.4077C= (p.Ile1359=) c.4041C= (p.Ile1347=) c.4152C= (p.Ile1384=) c.4116C= (p.Ile1372=) c.4074C= (p.Ile1358=) c.4038C= (p.Ile1346=) | |
19 | g.7117128G>T | CA505400012 | INSR | c.4077C>A (p.Ile1359=) c.4041C>A (p.Ile1347=) c.4152C>A (p.Ile1384=) c.4116C>A (p.Ile1372=) c.4074C>A (p.Ile1358=) c.4038C>A (p.Ile1346=) | COSMIC COSMIC |
19 | g.7117129A= | CA2320764103 | INSR | c.4076T= (p.Ile1359=) c.4040T= (p.Ile1347=) c.4151T= (p.Ile1384=) c.4115T= (p.Ile1372=) c.4073T= (p.Ile1358=) c.4037T= (p.Ile1346=) | |
19 | g.7117129A>C | CA403668347 | INSR | c.4076T>G (p.Ile1359Ser) c.4040T>G (p.Ile1347Ser) c.4151T>G (p.Ile1384Ser) c.4115T>G (p.Ile1372Ser) c.4073T>G (p.Ile1358Ser) c.4037T>G (p.Ile1346Ser) | |
19 | g.7117129A>G | CA403668348 | INSR | c.4076T>C (p.Ile1359Thr) c.4040T>C (p.Ile1347Thr) c.4151T>C (p.Ile1384Thr) c.4115T>C (p.Ile1372Thr) c.4073T>C (p.Ile1358Thr) c.4037T>C (p.Ile1346Thr) | |
19 | g.7117129A>T | CA403668349 | INSR | c.4076T>A (p.Ile1359Asn) c.4040T>A (p.Ile1347Asn) c.4151T>A (p.Ile1384Asn) c.4115T>A (p.Ile1372Asn) c.4073T>A (p.Ile1358Asn) c.4037T>A (p.Ile1346Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117130T>A | CA403668352 | INSR | c.4075A>T (p.Ile1359Phe) c.4039A>T (p.Ile1347Phe) c.4150A>T (p.Ile1384Phe) c.4114A>T (p.Ile1372Phe) c.4072A>T (p.Ile1358Phe) c.4036A>T (p.Ile1346Phe) | |
19 | g.7117130T>C | CA403668351 | INSR | c.4075A>G (p.Ile1359Val) c.4039A>G (p.Ile1347Val) c.4150A>G (p.Ile1384Val) c.4114A>G (p.Ile1372Val) c.4072A>G (p.Ile1358Val) c.4036A>G (p.Ile1346Val) | |
19 | g.7117130T>G | CA403668350 | INSR | c.4075A>C (p.Ile1359Leu) c.4039A>C (p.Ile1347Leu) c.4150A>C (p.Ile1384Leu) c.4114A>C (p.Ile1372Leu) c.4072A>C (p.Ile1358Leu) c.4036A>C (p.Ile1346Leu) | |
19 | g.7117131G>A | CA505400013 | INSR | c.4074C>T (p.His1358=) c.4038C>T (p.His1346=) c.4149C>T (p.His1383=) c.4113C>T (p.His1371=) c.4071C>T (p.His1357=) c.4035C>T (p.His1345=) | |
19 | g.7117131G>C | CA403668353 | INSR | c.4074C>G (p.His1358Gln) c.4038C>G (p.His1346Gln) c.4149C>G (p.His1383Gln) c.4113C>G (p.His1371Gln) c.4071C>G (p.His1357Gln) c.4035C>G (p.His1345Gln) | |
19 | g.7117131G>T | CA403668354 | INSR | c.4074C>A (p.His1358Gln) c.4038C>A (p.His1346Gln) c.4149C>A (p.His1383Gln) c.4113C>A (p.His1371Gln) c.4071C>A (p.His1357Gln) c.4035C>A (p.His1345Gln) | |
19 | g.7117132T>A | CA403668355 | INSR | c.4073A>T (p.His1358Leu) c.4037A>T (p.His1346Leu) c.4148A>T (p.His1383Leu) c.4112A>T (p.His1371Leu) c.4070A>T (p.His1357Leu) c.4034A>T (p.His1345Leu) | |
19 | g.7117132T>C | CA403668356 | INSR | c.4073A>G (p.His1358Arg) c.4037A>G (p.His1346Arg) c.4148A>G (p.His1383Arg) c.4112A>G (p.His1371Arg) c.4070A>G (p.His1357Arg) c.4034A>G (p.His1345Arg) | dbSNP gnomAD v4 |
19 | g.7117132T>G | CA403668357 | INSR | c.4073A>C (p.His1358Pro) c.4037A>C (p.His1346Pro) c.4148A>C (p.His1383Pro) c.4112A>C (p.His1371Pro) c.4070A>C (p.His1357Pro) c.4034A>C (p.His1345Pro) | |
19 | g.7117132T= | CA2320764107 | INSR | c.4073A= (p.His1358=) c.4037A= (p.His1346=) c.4148A= (p.His1383=) c.4112A= (p.His1371=) c.4070A= (p.His1357=) c.4034A= (p.His1345=) | |
19 | g.7117133G>A | CA403668358 | INSR | c.4072C>T (p.His1358Tyr) c.4036C>T (p.His1346Tyr) c.4147C>T (p.His1383Tyr) c.4111C>T (p.His1371Tyr) c.4069C>T (p.His1357Tyr) c.4033C>T (p.His1345Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117133G>C | CA403668359 | INSR | c.4072C>G (p.His1358Asp) c.4036C>G (p.His1346Asp) c.4147C>G (p.His1383Asp) c.4111C>G (p.His1371Asp) c.4069C>G (p.His1357Asp) c.4033C>G (p.His1345Asp) | |
19 | g.7117133G= | CA2320764109 | INSR | c.4072C= (p.His1358=) c.4036C= (p.His1346=) c.4147C= (p.His1383=) c.4111C= (p.His1371=) c.4069C= (p.His1357=) c.4033C= (p.His1345=) | |
19 | g.7117133G>T | CA403668360 | INSR | c.4072C>A (p.His1358Asn) c.4036C>A (p.His1346Asn) c.4147C>A (p.His1383Asn) c.4111C>A (p.His1371Asn) c.4069C>A (p.His1357Asn) c.4033C>A (p.His1345Asn) | |
19 | g.7117134T>A | CA403668361 | INSR | c.4071A>T (p.Glu1357Asp) c.4035A>T (p.Glu1345Asp) c.4146A>T (p.Glu1382Asp) c.4110A>T (p.Glu1370Asp) c.4068A>T (p.Glu1356Asp) c.4032A>T (p.Glu1344Asp) | |
19 | g.7117134T>C | CA9135094 | INSR | c.4071A>G (p.Glu1357=) c.4035A>G (p.Glu1345=) c.4146A>G (p.Glu1382=) c.4110A>G (p.Glu1370=) c.4068A>G (p.Glu1356=) c.4032A>G (p.Glu1344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117134T>G | CA403668362 | INSR | c.4071A>C (p.Glu1357Asp) c.4035A>C (p.Glu1345Asp) c.4146A>C (p.Glu1382Asp) c.4110A>C (p.Glu1370Asp) c.4068A>C (p.Glu1356Asp) c.4032A>C (p.Glu1344Asp) | |
19 | g.7117134T= | CA2320764111 | INSR | c.4071A= (p.Glu1357=) c.4035A= (p.Glu1345=) c.4146A= (p.Glu1382=) c.4110A= (p.Glu1370=) c.4068A= (p.Glu1356=) c.4032A= (p.Glu1344=) | |
19 | g.7117135del | CA2813449714 | INSR | c.4071del (p.Glu1357AspfsTer8) c.4035del (p.Glu1345AspfsTer8) c.4146del (p.Glu1382AspfsTer8) c.4110del (p.Glu1370AspfsTer8) c.4068del (p.Glu1356AspfsTer8) c.4032del (p.Glu1344AspfsTer8) | |
19 | g.7117135T>A | CA403668364 | INSR | c.4070A>T (p.Glu1357Val) c.4034A>T (p.Glu1345Val) c.4145A>T (p.Glu1382Val) c.4109A>T (p.Glu1370Val) c.4067A>T (p.Glu1356Val) c.4031A>T (p.Glu1344Val) | |
19 | g.7117135T>C | CA403668365 | INSR | c.4070A>G (p.Glu1357Gly) c.4034A>G (p.Glu1345Gly) c.4145A>G (p.Glu1382Gly) c.4109A>G (p.Glu1370Gly) c.4067A>G (p.Glu1356Gly) c.4031A>G (p.Glu1344Gly) | |
19 | g.7117135T>G | CA403668363 | INSR | c.4070A>C (p.Glu1357Ala) c.4034A>C (p.Glu1345Ala) c.4145A>C (p.Glu1382Ala) c.4109A>C (p.Glu1370Ala) c.4067A>C (p.Glu1356Ala) c.4031A>C (p.Glu1344Ala) | |
19 | g.7117136C>A | CA403668366 | INSR | c.4069G>T (p.Glu1357Ter) c.4033G>T (p.Glu1345Ter) c.4144G>T (p.Glu1382Ter) c.4108G>T (p.Glu1370Ter) c.4066G>T (p.Glu1356Ter) c.4030G>T (p.Glu1344Ter) | |
19 | g.7117136C>G | CA403668367 | INSR | c.4069G>C (p.Glu1357Gln) c.4033G>C (p.Glu1345Gln) c.4144G>C (p.Glu1382Gln) c.4108G>C (p.Glu1370Gln) c.4066G>C (p.Glu1356Gln) c.4030G>C (p.Glu1344Gln) | |
19 | g.7117136C>T | CA403668368 | INSR | c.4069G>A (p.Glu1357Lys) c.4033G>A (p.Glu1345Lys) c.4144G>A (p.Glu1382Lys) c.4108G>A (p.Glu1370Lys) c.4066G>A (p.Glu1356Lys) c.4030G>A (p.Glu1344Lys) | gnomAD v2 gnomAD v4 |
19 | g.7117137C>A | CA403668369 | INSR | c.4068G>T (p.Glu1356Asp) c.4032G>T (p.Glu1344Asp) c.4143G>T (p.Glu1381Asp) c.4107G>T (p.Glu1369Asp) c.4065G>T (p.Glu1355Asp) c.4029G>T (p.Glu1343Asp) | |
19 | g.7117137C= | CA2320764115 | INSR | c.4068G= (p.Glu1356=) c.4032G= (p.Glu1344=) c.4143G= (p.Glu1381=) c.4107G= (p.Glu1369=) c.4065G= (p.Glu1355=) c.4029G= (p.Glu1343=) | |
19 | g.7117137C>G | CA403668370 | INSR | c.4068G>C (p.Glu1356Asp) c.4032G>C (p.Glu1344Asp) c.4143G>C (p.Glu1381Asp) c.4107G>C (p.Glu1369Asp) c.4065G>C (p.Glu1355Asp) c.4029G>C (p.Glu1343Asp) | |
19 | g.7117137C>T | CA505400014 | INSR | c.4068G>A (p.Glu1356=) c.4032G>A (p.Glu1344=) c.4143G>A (p.Glu1381=) c.4107G>A (p.Glu1369=) c.4065G>A (p.Glu1355=) c.4029G>A (p.Glu1343=) | dbSNP |
19 | g.7117138T>A | CA403668373 | INSR | c.4067A>T (p.Glu1356Val) c.4031A>T (p.Glu1344Val) c.4142A>T (p.Glu1381Val) c.4106A>T (p.Glu1369Val) c.4064A>T (p.Glu1355Val) c.4028A>T (p.Glu1343Val) | |
19 | g.7117138T>C | CA403668372 | INSR | c.4067A>G (p.Glu1356Gly) c.4031A>G (p.Glu1344Gly) c.4142A>G (p.Glu1381Gly) c.4106A>G (p.Glu1369Gly) c.4064A>G (p.Glu1355Gly) c.4028A>G (p.Glu1343Gly) | |
19 | g.7117138T>G | CA403668371 | INSR | c.4067A>C (p.Glu1356Ala) c.4031A>C (p.Glu1344Ala) c.4142A>C (p.Glu1381Ala) c.4106A>C (p.Glu1369Ala) c.4064A>C (p.Glu1355Ala) c.4028A>C (p.Glu1343Ala) | |
19 | g.7117139C>A | CA403668374 | INSR | c.4066G>T (p.Glu1356Ter) c.4030G>T (p.Glu1344Ter) c.4141G>T (p.Glu1381Ter) c.4105G>T (p.Glu1369Ter) c.4063G>T (p.Glu1355Ter) c.4027G>T (p.Glu1343Ter) | |
19 | g.7117139C= | CA2320764120 | INSR | c.4066G= (p.Glu1356=) c.4030G= (p.Glu1344=) c.4141G= (p.Glu1381=) c.4105G= (p.Glu1369=) c.4063G= (p.Glu1355=) c.4027G= (p.Glu1343=) | |
19 | g.7117139C>G | CA403668375 | INSR | c.4066G>C (p.Glu1356Gln) c.4030G>C (p.Glu1344Gln) c.4141G>C (p.Glu1381Gln) c.4105G>C (p.Glu1369Gln) c.4063G>C (p.Glu1355Gln) c.4027G>C (p.Glu1343Gln) | |
19 | g.7117139C>T | CA9135095 | INSR | c.4066G>A (p.Glu1356Lys) c.4030G>A (p.Glu1344Lys) c.4141G>A (p.Glu1381Lys) c.4105G>A (p.Glu1369Lys) c.4063G>A (p.Glu1355Lys) c.4027G>A (p.Glu1343Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7117140G>A | CA9135096 | INSR | c.4065C>T (p.Tyr1355=) c.4029C>T (p.Tyr1343=) c.4140C>T (p.Tyr1380=) c.4104C>T (p.Tyr1368=) c.4062C>T (p.Tyr1354=) c.4026C>T (p.Tyr1342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117140G>C | CA403668376 | INSR | c.4065C>G (p.Tyr1355Ter) c.4029C>G (p.Tyr1343Ter) c.4140C>G (p.Tyr1380Ter) c.4104C>G (p.Tyr1368Ter) c.4062C>G (p.Tyr1354Ter) c.4026C>G (p.Tyr1342Ter) | dbSNP gnomAD v4 |
19 | g.7117140G= | CA2320764125 | INSR | c.4065C= (p.Tyr1355=) c.4029C= (p.Tyr1343=) c.4140C= (p.Tyr1380=) c.4104C= (p.Tyr1368=) c.4062C= (p.Tyr1354=) c.4026C= (p.Tyr1342=) | |
19 | g.7117140G>T | CA403668377 | INSR | c.4065C>A (p.Tyr1355Ter) c.4029C>A (p.Tyr1343Ter) c.4140C>A (p.Tyr1380Ter) c.4104C>A (p.Tyr1368Ter) c.4062C>A (p.Tyr1354Ter) c.4026C>A (p.Tyr1342Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.7117141T>A | CA403668378 | INSR | c.4064A>T (p.Tyr1355Phe) c.4028A>T (p.Tyr1343Phe) c.4139A>T (p.Tyr1380Phe) c.4103A>T (p.Tyr1368Phe) c.4061A>T (p.Tyr1354Phe) c.4025A>T (p.Tyr1342Phe) | |
19 | g.7117141T>C | CA403668380 | INSR | c.4064A>G (p.Tyr1355Cys) c.4028A>G (p.Tyr1343Cys) c.4139A>G (p.Tyr1380Cys) c.4103A>G (p.Tyr1368Cys) c.4061A>G (p.Tyr1354Cys) c.4025A>G (p.Tyr1342Cys) | |
19 | g.7117141T>G | CA403668379 | INSR | c.4064A>C (p.Tyr1355Ser) c.4028A>C (p.Tyr1343Ser) c.4139A>C (p.Tyr1380Ser) c.4103A>C (p.Tyr1368Ser) c.4061A>C (p.Tyr1354Ser) c.4025A>C (p.Tyr1342Ser) | |
19 | g.7117142A= | CA2320764129 | INSR | c.4063T= (p.Tyr1355=) c.4027T= (p.Tyr1343=) c.4138T= (p.Tyr1380=) c.4102T= (p.Tyr1368=) c.4060T= (p.Tyr1354=) c.4024T= (p.Tyr1342=) | |
19 | g.7117142A>C | CA403668381 | INSR | c.4063T>G (p.Tyr1355Asp) c.4027T>G (p.Tyr1343Asp) c.4138T>G (p.Tyr1380Asp) c.4102T>G (p.Tyr1368Asp) c.4060T>G (p.Tyr1354Asp) c.4024T>G (p.Tyr1342Asp) | |
19 | g.7117142A>G | CA9135097 | INSR | c.4063T>C (p.Tyr1355His) c.4027T>C (p.Tyr1343His) c.4138T>C (p.Tyr1380His) c.4102T>C (p.Tyr1368His) c.4060T>C (p.Tyr1354His) c.4024T>C (p.Tyr1342His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117142A>T | CA403668382 | INSR | c.4063T>A (p.Tyr1355Asn) c.4027T>A (p.Tyr1343Asn) c.4138T>A (p.Tyr1380Asn) c.4102T>A (p.Tyr1368Asn) c.4060T>A (p.Tyr1354Asn) c.4024T>A (p.Tyr1342Asn) | |
19 | g.7117143G>A | CA505400015 | INSR | c.4062C>T (p.Ser1354=) c.4026C>T (p.Ser1342=) c.4137C>T (p.Ser1379=) c.4101C>T (p.Ser1367=) c.4059C>T (p.Ser1353=) c.4023C>T (p.Ser1341=) | gnomAD v4 |
19 | g.7117143G>C | CA403668383 | INSR | c.4062C>G (p.Ser1354Arg) c.4026C>G (p.Ser1342Arg) c.4137C>G (p.Ser1379Arg) c.4101C>G (p.Ser1367Arg) c.4059C>G (p.Ser1353Arg) c.4023C>G (p.Ser1341Arg) | |
19 | g.7117143G>T | CA403668384 | INSR | c.4062C>A (p.Ser1354Arg) c.4026C>A (p.Ser1342Arg) c.4137C>A (p.Ser1379Arg) c.4101C>A (p.Ser1367Arg) c.4059C>A (p.Ser1353Arg) c.4023C>A (p.Ser1341Arg) | |
19 | g.7117144C>A | CA403668385 | INSR | c.4061G>T (p.Ser1354Ile) c.4025G>T (p.Ser1342Ile) c.4136G>T (p.Ser1379Ile) c.4100G>T (p.Ser1367Ile) c.4058G>T (p.Ser1353Ile) c.4022G>T (p.Ser1341Ile) | |
19 | g.7117144C>G | CA403668386 | INSR | c.4061G>C (p.Ser1354Thr) c.4025G>C (p.Ser1342Thr) c.4136G>C (p.Ser1379Thr) c.4100G>C (p.Ser1367Thr) c.4058G>C (p.Ser1353Thr) c.4022G>C (p.Ser1341Thr) | |
19 | g.7117144C>T | CA403668387 | INSR | c.4061G>A (p.Ser1354Asn) c.4025G>A (p.Ser1342Asn) c.4136G>A (p.Ser1379Asn) c.4100G>A (p.Ser1367Asn) c.4058G>A (p.Ser1353Asn) c.4022G>A (p.Ser1341Asn) | |
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 |