Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7117045G>A | CA9135077 | INSR | c.*11C>T (n.*11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117045G>C | CA884175012 | INSR | c.*11C>G (n.*11C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117045G= | CA2320763917 | INSR | c.*11C= (n.*11C=) | |
19 | g.7117045G>T | CA2320763920 | INSR | c.*11C>A (n.*11C>A) | dbSNP |
19 | g.7117047T>C | CA2587920996 | INSR | c.*9A>G (n.*9A>G) | gnomAD v4 |
19 | g.7117047T>G | CA2587920997 | INSR | c.*9A>C (n.*9A>C) | gnomAD v4 |
19 | g.7117049G>C | CA2320763923 | INSR | c.*7C>G (n.*7C>G) | dbSNP |
19 | g.7117049G= | CA2320763921 | INSR | c.*7C= (n.*7C=) | |
19 | g.7117050G>A | CA631692412 | INSR | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117050G>C | CA631692413 | INSR | c.*6C>G (n.*6C>G) | dbSNP gnomAD v2 |
19 | g.7117050G= | CA2320763924 | INSR | c.*6C= (n.*6C=) | |
19 | g.7117050G>T | CA993113773 | INSR | c.*6C>A (n.*6C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117052A>C | CA2587920998 | INSR | c.*4T>G (n.*4T>G) | gnomAD v4 |
19 | g.7117053C= | CA2320763926 | INSR | c.*3G= (n.*3G=) | |
19 | g.7117053C>G | CA884175020 | INSR | c.*3G>C (n.*3G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117054T>A | CA2587920999 | INSR | c.*2A>T (n.*2A>T) | gnomAD v4 |
19 | g.7117054T>C | CA9135078 | INSR | c.*2A>G (n.*2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117054T= | CA2320763930 | INSR | c.*2A= (n.*2A=) | |
19 | g.7117055G>A | CA9135079 | INSR | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117055G>C | CA2587921000 | INSR | c.*1C>G (n.*1C>G) | gnomAD v4 |
19 | g.7117055G= | CA2320763934 | INSR | c.*1C= (n.*1C=) | |
19 | g.7117055G>T | CA2587921001 | INSR | c.*1C>A (n.*1C>A) | gnomAD v4 |
19 | g.7117056T>A | CA403668193 | INSR | c.4149A>T (p.Ter1383Tyr) c.4113A>T (p.Ter1371Tyr) c.4224A>T (p.Ter1408Tyr) c.4188A>T (p.Ter1396Tyr) c.4146A>T (p.Ter1382Tyr) c.4110A>T (p.Ter1370Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7117056T>C | CA9135080 | INSR | c.4149A>G (p.Ter1383=) c.4113A>G (p.Ter1371=) c.4224A>G (p.Ter1408=) c.4188A>G (p.Ter1396=) c.4146A>G (p.Ter1382=) c.4110A>G (p.Ter1370=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7117056T>G | CA403668194 | INSR | c.4149A>C (p.Ter1383Tyr) c.4113A>C (p.Ter1371Tyr) c.4224A>C (p.Ter1408Tyr) c.4188A>C (p.Ter1396Tyr) c.4146A>C (p.Ter1382Tyr) c.4110A>C (p.Ter1370Tyr) | gnomAD v4 |
19 | g.7117056T= | CA2320763936 | INSR | c.4149A= (p.Ter1383=) c.4113A= (p.Ter1371=) c.4224A= (p.Ter1408=) c.4188A= (p.Ter1396=) c.4146A= (p.Ter1382=) c.4110A= (p.Ter1370=) | |
19 | g.7117057T>A | CA403668195 | INSR | c.4148A>T (p.Ter1383Leu) c.4112A>T (p.Ter1371Leu) c.4223A>T (p.Ter1408Leu) c.4187A>T (p.Ter1396Leu) c.4145A>T (p.Ter1382Leu) c.4109A>T (p.Ter1370Leu) | |
19 | g.7117057T>C | CA505216035 | INSR | c.4148A>G (p.Ter1383=) c.4112A>G (p.Ter1371=) c.4223A>G (p.Ter1408=) c.4187A>G (p.Ter1396=) c.4145A>G (p.Ter1382=) c.4109A>G (p.Ter1370=) | gnomAD v4 |
19 | g.7117057T>G | CA403668196 | INSR | c.4148A>C (p.Ter1383Ser) c.4112A>C (p.Ter1371Ser) c.4223A>C (p.Ter1408Ser) c.4187A>C (p.Ter1396Ser) c.4145A>C (p.Ter1382Ser) c.4109A>C (p.Ter1370Ser) | |
19 | g.7117058A>C | CA403668197 | INSR | c.4147T>G (p.Ter1383Glu) c.4111T>G (p.Ter1371Glu) c.4222T>G (p.Ter1408Glu) c.4186T>G (p.Ter1396Glu) c.4144T>G (p.Ter1382Glu) c.4108T>G (p.Ter1370Glu) | |
19 | g.7117058A>G | CA403668198 | INSR | c.4147T>C (p.Ter1383Gln) c.4111T>C (p.Ter1371Gln) c.4222T>C (p.Ter1408Gln) c.4186T>C (p.Ter1396Gln) c.4144T>C (p.Ter1382Gln) c.4108T>C (p.Ter1370Gln) | |
19 | g.7117058A>T | CA403668199 | INSR | c.4147T>A (p.Ter1383Lys) c.4111T>A (p.Ter1371Lys) c.4222T>A (p.Ter1408Lys) c.4186T>A (p.Ter1396Lys) c.4144T>A (p.Ter1382Lys) c.4108T>A (p.Ter1370Lys) | |
19 | g.7117059G>A | CA505216039 | INSR | c.4146C>T (p.Ser1382=) c.4110C>T (p.Ser1370=) c.4221C>T (p.Ser1407=) c.4185C>T (p.Ser1395=) c.4143C>T (p.Ser1381=) c.4107C>T (p.Ser1369=) | COSMIC COSMIC |
19 | g.7117059G>C | CA505216037 | INSR | c.4146C>G (p.Ser1382=) c.4110C>G (p.Ser1370=) c.4221C>G (p.Ser1407=) c.4185C>G (p.Ser1395=) c.4143C>G (p.Ser1381=) c.4107C>G (p.Ser1369=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7117059G= | CA2320763939 | INSR | c.4146C= (p.Ser1382=) c.4110C= (p.Ser1370=) c.4221C= (p.Ser1407=) c.4185C= (p.Ser1395=) c.4143C= (p.Ser1381=) c.4107C= (p.Ser1369=) | |
19 | g.7117059G>T | CA505216036 | INSR | c.4146C>A (p.Ser1382=) c.4110C>A (p.Ser1370=) c.4221C>A (p.Ser1407=) c.4185C>A (p.Ser1395=) c.4143C>A (p.Ser1381=) c.4107C>A (p.Ser1369=) | |
19 | g.7117060G>A | CA9135081 | INSR | c.4145C>T (p.Ser1382Phe) c.4109C>T (p.Ser1370Phe) c.4220C>T (p.Ser1407Phe) c.4184C>T (p.Ser1395Phe) c.4142C>T (p.Ser1381Phe) c.4106C>T (p.Ser1369Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7117060G>C | CA403668201 | INSR | c.4145C>G (p.Ser1382Cys) c.4109C>G (p.Ser1370Cys) c.4220C>G (p.Ser1407Cys) c.4184C>G (p.Ser1395Cys) c.4142C>G (p.Ser1381Cys) c.4106C>G (p.Ser1369Cys) | |
19 | g.7117060G= | CA2320763947 | INSR | c.4145C= (p.Ser1382=) c.4109C= (p.Ser1370=) c.4220C= (p.Ser1407=) c.4184C= (p.Ser1395=) c.4142C= (p.Ser1381=) c.4106C= (p.Ser1369=) | |
19 | g.7117060G>T | CA403668200 | INSR | c.4145C>A (p.Ser1382Tyr) c.4109C>A (p.Ser1370Tyr) c.4220C>A (p.Ser1407Tyr) c.4184C>A (p.Ser1395Tyr) c.4142C>A (p.Ser1381Tyr) c.4106C>A (p.Ser1369Tyr) | |
19 | g.7117061A>C | CA403668202 | INSR | c.4144T>G (p.Ser1382Ala) c.4108T>G (p.Ser1370Ala) c.4219T>G (p.Ser1407Ala) c.4183T>G (p.Ser1395Ala) c.4141T>G (p.Ser1381Ala) c.4105T>G (p.Ser1369Ala) | |
19 | g.7117061A>G | CA403668203 | INSR | c.4144T>C (p.Ser1382Pro) c.4108T>C (p.Ser1370Pro) c.4219T>C (p.Ser1407Pro) c.4183T>C (p.Ser1395Pro) c.4141T>C (p.Ser1381Pro) c.4105T>C (p.Ser1369Pro) | |
19 | g.7117061A>T | CA403668204 | INSR | c.4144T>A (p.Ser1382Thr) c.4108T>A (p.Ser1370Thr) c.4219T>A (p.Ser1407Thr) c.4183T>A (p.Ser1395Thr) c.4141T>A (p.Ser1381Thr) c.4105T>A (p.Ser1369Thr) | |
19 | g.7117062A>C | CA505216045 | INSR | c.4143T>G (p.Pro1381=) c.4107T>G (p.Pro1369=) c.4218T>G (p.Pro1406=) c.4182T>G (p.Pro1394=) c.4140T>G (p.Pro1380=) c.4104T>G (p.Pro1368=) | |
19 | g.7117062A>G | CA505216044 | INSR | c.4143T>C (p.Pro1381=) c.4107T>C (p.Pro1369=) c.4218T>C (p.Pro1406=) c.4182T>C (p.Pro1394=) c.4140T>C (p.Pro1380=) c.4104T>C (p.Pro1368=) | |
19 | g.7117062A>T | CA505216043 | INSR | c.4143T>A (p.Pro1381=) c.4107T>A (p.Pro1369=) c.4218T>A (p.Pro1406=) c.4182T>A (p.Pro1394=) c.4140T>A (p.Pro1380=) c.4104T>A (p.Pro1368=) | |
19 | g.7117063G>A | CA403668205 | INSR | c.4142C>T (p.Pro1381Leu) c.4106C>T (p.Pro1369Leu) c.4217C>T (p.Pro1406Leu) c.4181C>T (p.Pro1394Leu) c.4139C>T (p.Pro1380Leu) c.4103C>T (p.Pro1368Leu) | gnomAD v4 |
19 | g.7117063G>C | CA403668206 | INSR | c.4142C>G (p.Pro1381Arg) c.4106C>G (p.Pro1369Arg) c.4217C>G (p.Pro1406Arg) c.4181C>G (p.Pro1394Arg) c.4139C>G (p.Pro1380Arg) c.4103C>G (p.Pro1368Arg) | |
19 | g.7117063G>T | CA403668207 | INSR | c.4142C>A (p.Pro1381His) c.4106C>A (p.Pro1369His) c.4217C>A (p.Pro1406His) c.4181C>A (p.Pro1394His) c.4139C>A (p.Pro1380His) c.4103C>A (p.Pro1368His) | |
19 | g.7117064G>A | CA403668208 | INSR | c.4141C>T (p.Pro1381Ser) c.4105C>T (p.Pro1369Ser) c.4216C>T (p.Pro1406Ser) c.4180C>T (p.Pro1394Ser) c.4138C>T (p.Pro1380Ser) c.4102C>T (p.Pro1368Ser) | COSMIC COSMIC |