Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7117055G>ACA9135079INSRc.*1C>T (n.*1C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7117055G>CCA2587921000INSRc.*1C>G (n.*1C>G)
gnomAD v4
19g.7117055G=CA2320763934INSRc.*1C= (n.*1C=)
19g.7117055G>TCA2587921001INSRc.*1C>A (n.*1C>A)
gnomAD v4
19g.7117056T>ACA403668193INSRc.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
19g.7117056T>CCA9135080INSRc.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
19g.7117056T>GCA403668194INSRc.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
19g.7117056T=CA2320763936INSRc.4149A= (p.Ter1383=)
c.4113A= (p.Ter1371=)
c.4224A= (p.Ter1408=)
c.4188A= (p.Ter1396=)
c.4146A= (p.Ter1382=)
c.4110A= (p.Ter1370=)
19g.7117057T>ACA403668195INSRc.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)
19g.7117057T>CCA505216035INSRc.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
19g.7117057T>GCA403668196INSRc.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)
19g.7117058A>CCA403668197INSRc.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)
19g.7117058A>GCA403668198INSRc.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)
19g.7117058A>TCA403668199INSRc.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)
19g.7117059G>ACA505216039INSRc.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
19g.7117059G>CCA505216037INSRc.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
19g.7117059G=CA2320763939INSRc.4146C= (p.Ser1382=)
c.4110C= (p.Ser1370=)
c.4221C= (p.Ser1407=)
c.4185C= (p.Ser1395=)
c.4143C= (p.Ser1381=)
c.4107C= (p.Ser1369=)
19g.7117059G>TCA505216036INSRc.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=)
19g.7117060G>ACA9135081INSRc.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
19g.7117060G>CCA403668201INSRc.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)
19g.7117060G=CA2320763947INSRc.4145C= (p.Ser1382=)
c.4109C= (p.Ser1370=)
c.4220C= (p.Ser1407=)
c.4184C= (p.Ser1395=)
c.4142C= (p.Ser1381=)
c.4106C= (p.Ser1369=)
19g.7117060G>TCA403668200INSRc.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)
19g.7117061A>CCA403668202INSRc.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)
19g.7117061A>GCA403668203INSRc.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)
19g.7117061A>TCA403668204INSRc.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)
19g.7117062A>CCA505216045INSRc.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=)
19g.7117062A>GCA505216044INSRc.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=)
19g.7117062A>TCA505216043INSRc.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=)
19g.7117063G>ACA403668205INSRc.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
19g.7117063G>CCA403668206INSRc.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)
19g.7117063G>TCA403668207INSRc.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)
19g.7117064G>ACA403668208INSRc.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
19g.7117064G>CCA403668209INSRc.4141C>G (p.Pro1381Ala)
c.4105C>G (p.Pro1369Ala)
c.4216C>G (p.Pro1406Ala)
c.4180C>G (p.Pro1394Ala)
c.4138C>G (p.Pro1380Ala)
c.4102C>G (p.Pro1368Ala)
19g.7117064G>TCA403668210INSRc.4141C>A (p.Pro1381Thr)
c.4105C>A (p.Pro1369Thr)
c.4216C>A (p.Pro1406Thr)
c.4180C>A (p.Pro1394Thr)
c.4138C>A (p.Pro1380Thr)
c.4102C>A (p.Pro1368Thr)
19g.7117065A>CCA403668211INSRc.4140T>G (p.Asn1380Lys)
c.4104T>G (p.Asn1368Lys)
c.4215T>G (p.Asn1405Lys)
c.4179T>G (p.Asn1393Lys)
c.4137T>G (p.Asn1379Lys)
c.4101T>G (p.Asn1367Lys)
gnomAD v4
19g.7117065A>GCA505216051INSRc.4140T>C (p.Asn1380=)
c.4104T>C (p.Asn1368=)
c.4215T>C (p.Asn1405=)
c.4179T>C (p.Asn1393=)
c.4137T>C (p.Asn1379=)
c.4101T>C (p.Asn1367=)
19g.7117065A>TCA403668212INSRc.4140T>A (p.Asn1380Lys)
c.4104T>A (p.Asn1368Lys)
c.4215T>A (p.Asn1405Lys)
c.4179T>A (p.Asn1393Lys)
c.4137T>A (p.Asn1379Lys)
c.4101T>A (p.Asn1367Lys)
19g.7117066T>ACA403668214INSRc.4139A>T (p.Asn1380Ile)
c.4103A>T (p.Asn1368Ile)
c.4214A>T (p.Asn1405Ile)
c.4178A>T (p.Asn1393Ile)
c.4136A>T (p.Asn1379Ile)
c.4100A>T (p.Asn1367Ile)
19g.7117066T>CCA9135082INSRc.4139A>G (p.Asn1380Ser)
c.4103A>G (p.Asn1368Ser)
c.4214A>G (p.Asn1405Ser)
c.4178A>G (p.Asn1393Ser)
c.4136A>G (p.Asn1379Ser)
c.4100A>G (p.Asn1367Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7117066T>GCA403668213INSRc.4139A>C (p.Asn1380Thr)
c.4103A>C (p.Asn1368Thr)
c.4214A>C (p.Asn1405Thr)
c.4178A>C (p.Asn1393Thr)
c.4136A>C (p.Asn1379Thr)
c.4100A>C (p.Asn1367Thr)
19g.7117066T=CA2320763952INSRc.4139A= (p.Asn1380=)
c.4103A= (p.Asn1368=)
c.4214A= (p.Asn1405=)
c.4178A= (p.Asn1393=)
c.4136A= (p.Asn1379=)
c.4100A= (p.Asn1367=)
19g.7117067T>ACA403668215INSRc.4138A>T (p.Asn1380Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4213A>T (p.Asn1405Tyr)
c.4177A>T (p.Asn1393Tyr)
c.4135A>T (p.Asn1379Tyr)
c.4099A>T (p.Asn1367Tyr)
19g.7117067T>CCA403668217INSRc.4138A>G (p.Asn1380Asp)
c.4102A>G (p.Asn1368Asp)
c.4213A>G (p.Asn1405Asp)
c.4177A>G (p.Asn1393Asp)
c.4135A>G (p.Asn1379Asp)
c.4099A>G (p.Asn1367Asp)
19g.7117067T>GCA403668216INSRc.4138A>C (p.Asn1380His)
c.4102A>C (p.Asn1368His)
c.4213A>C (p.Asn1405His)
c.4177A>C (p.Asn1393His)
c.4135A>C (p.Asn1379His)
c.4099A>C (p.Asn1367His)
19g.7117068G>ACA505216054INSRc.4137C>T (p.Ser1379=)
c.4101C>T (p.Ser1367=)
c.4212C>T (p.Ser1404=)
c.4176C>T (p.Ser1392=)
c.4134C>T (p.Ser1378=)
c.4098C>T (p.Ser1366=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7117068G>CCA505216053INSRc.4137C>G (p.Ser1379=)
c.4101C>G (p.Ser1367=)
c.4212C>G (p.Ser1404=)
c.4176C>G (p.Ser1392=)
c.4134C>G (p.Ser1378=)
c.4098C>G (p.Ser1366=)
19g.7117068G=CA2320763956INSRc.4137C= (p.Ser1379=)
c.4101C= (p.Ser1367=)
c.4212C= (p.Ser1404=)
c.4176C= (p.Ser1392=)
c.4134C= (p.Ser1378=)
c.4098C= (p.Ser1366=)
19g.7117068G>TCA505216052INSRc.4137C>A (p.Ser1379=)
c.4101C>A (p.Ser1367=)
c.4212C>A (p.Ser1404=)
c.4176C>A (p.Ser1392=)
c.4134C>A (p.Ser1378=)
c.4098C>A (p.Ser1366=)
19g.7117069G>ACA403668218INSRc.4136C>T (p.Ser1379Phe)
c.4100C>T (p.Ser1367Phe)
c.4211C>T (p.Ser1404Phe)
c.4175C>T (p.Ser1392Phe)
c.4133C>T (p.Ser1378Phe)
c.4097C>T (p.Ser1366Phe)
19g.7117069G>CCA403668219INSRc.4136C>G (p.Ser1379Cys)
c.4100C>G (p.Ser1367Cys)
c.4211C>G (p.Ser1404Cys)
c.4175C>G (p.Ser1392Cys)
c.4133C>G (p.Ser1378Cys)
c.4097C>G (p.Ser1366Cys)
19g.7117069G>TCA403668220INSRc.4136C>A (p.Ser1379Tyr)
c.4100C>A (p.Ser1367Tyr)
c.4211C>A (p.Ser1404Tyr)
c.4175C>A (p.Ser1392Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4097C>A (p.Ser1366Tyr)
19g.7117070A=CA2320763958INSRc.4135T= (p.Ser1379=)
c.4099T= (p.Ser1367=)
c.4210T= (p.Ser1404=)
c.4174T= (p.Ser1392=)
c.4132T= (p.Ser1378=)
c.4096T= (p.Ser1366=)
19g.7117070A>CCA403668221INSRc.4135T>G (p.Ser1379Ala)
c.4099T>G (p.Ser1367Ala)
c.4210T>G (p.Ser1404Ala)
c.4174T>G (p.Ser1392Ala)
c.4132T>G (p.Ser1378Ala)
c.4096T>G (p.Ser1366Ala)
19g.7117070A>GCA403668222INSRc.4135T>C (p.Ser1379Pro)
c.4099T>C (p.Ser1367Pro)
c.4210T>C (p.Ser1404Pro)
c.4174T>C (p.Ser1392Pro)
c.4132T>C (p.Ser1378Pro)
c.4096T>C (p.Ser1366Pro)
19g.7117070A>TCA403668223INSRc.4135T>A (p.Ser1379Thr)
c.4099T>A (p.Ser1367Thr)
c.4210T>A (p.Ser1404Thr)
c.4174T>A (p.Ser1392Thr)
c.4132T>A (p.Ser1378Thr)
c.4096T>A (p.Ser1366Thr)
19g.7117071C>ACA505216056INSRc.4134G>T (p.Arg1378=)
c.4098G>T (p.Arg1366=)
c.4209G>T (p.Arg1403=)
c.4173G>T (p.Arg1391=)
c.4131G>T (p.Arg1377=)
c.4095G>T (p.Arg1365=)
19g.7117071C=CA2320763965INSRc.4134G= (p.Arg1378=)
c.4098G= (p.Arg1366=)
c.4209G= (p.Arg1403=)
c.4173G= (p.Arg1391=)
c.4131G= (p.Arg1377=)
c.4095G= (p.Arg1365=)
19g.7117071C>GCA505216055INSRc.4134G>C (p.Arg1378=)
c.4098G>C (p.Arg1366=)
c.4209G>C (p.Arg1403=)
c.4173G>C (p.Arg1391=)
c.4131G>C (p.Arg1377=)
c.4095G>C (p.Arg1365=)
ClinVar dbSNP gnomAD v2
19g.7117071C>TCA9135083INSRc.4134G>A (p.Arg1378=)
c.4098G>A (p.Arg1366=)
c.4209G>A (p.Arg1403=)
c.4173G>A (p.Arg1391=)
c.4131G>A (p.Arg1377=)
c.4095G>A (p.Arg1365=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7117072dupCA920049000INSRc.4134dup (p.Ser1379ValfsTer25)
c.4098dup (p.Ser1367ValfsTer25)
c.4209dup (p.Ser1404ValfsTer25)
c.4173dup (p.Ser1392ValfsTer25)
c.4131dup (p.Ser1378ValfsTer25)
c.4095dup (p.Ser1366ValfsTer25)
dbSNP gnomAD v4
19g.7117072C>ACA403668224INSRc.4133G>T (p.Arg1378Leu)
c.4097G>T (p.Arg1366Leu)
c.4208G>T (p.Arg1403Leu)
c.4172G>T (p.Arg1391Leu)
c.4130G>T (p.Arg1377Leu)
c.4094G>T (p.Arg1365Leu)
dbSNP
19g.7117072C=CA2320763975INSRc.4133G= (p.Arg1378=)
c.4097G= (p.Arg1366=)
c.4208G= (p.Arg1403=)
c.4172G= (p.Arg1391=)
c.4130G= (p.Arg1377=)
c.4094G= (p.Arg1365=)
19g.7117072C>GCA403668225INSRc.4133G>C (p.Arg1378Pro)
c.4097G>C (p.Arg1366Pro)
c.4208G>C (p.Arg1403Pro)
c.4172G>C (p.Arg1391Pro)
c.4130G>C (p.Arg1377Pro)
c.4094G>C (p.Arg1365Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7117072C>TCA9135084INSRc.4133G>A (p.Arg1378Gln)
c.4097G>A (p.Arg1366Gln)
c.4208G>A (p.Arg1403Gln)
c.4172G>A (p.Arg1391Gln)
c.4130G>A (p.Arg1377Gln)
c.4094G>A (p.Arg1365Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7117073G>ACA403668226INSRc.4132C>T (p.Arg1378Trp)
c.4096C>T (p.Arg1366Trp)
c.4207C>T (p.Arg1403Trp)
c.4171C>T (p.Arg1391Trp)
c.4129C>T (p.Arg1377Trp)
c.4093C>T (p.Arg1365Trp)
dbSNP gnomAD v4
19g.7117073G>CCA9135085INSRc.4132C>G (p.Arg1378Gly)
c.4096C>G (p.Arg1366Gly)
c.4207C>G (p.Arg1403Gly)
c.4171C>G (p.Arg1391Gly)
c.4129C>G (p.Arg1377Gly)
c.4093C>G (p.Arg1365Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7117073G=CA2320763982INSRc.4132C= (p.Arg1378=)
c.4096C= (p.Arg1366=)
c.4207C= (p.Arg1403=)
c.4171C= (p.Arg1391=)
c.4129C= (p.Arg1377=)
c.4093C= (p.Arg1365=)
19g.7117073G>TCA505216058INSRc.4132C>A (p.Arg1378=)
c.4096C>A (p.Arg1366=)
c.4207C>A (p.Arg1403=)
c.4171C>A (p.Arg1391=)
c.4129C>A (p.Arg1377=)
c.4093C>A (p.Arg1365=)
19g.7117074A=CA2320763985INSRc.4131T= (p.Pro1377=)
c.4095T= (p.Pro1365=)
c.4206T= (p.Pro1402=)
c.4170T= (p.Pro1390=)
c.4128T= (p.Pro1376=)
c.4092T= (p.Pro1364=)
19g.7117074A>CCA505216061INSRc.4131T>G (p.Pro1377=)
c.4095T>G (p.Pro1365=)
c.4206T>G (p.Pro1402=)
c.4170T>G (p.Pro1390=)
c.4128T>G (p.Pro1376=)
c.4092T>G (p.Pro1364=)
dbSNP gnomAD v4
19g.7117074A>GCA505216060INSRc.4131T>C (p.Pro1377=)
c.4095T>C (p.Pro1365=)
c.4206T>C (p.Pro1402=)
c.4170T>C (p.Pro1390=)
c.4128T>C (p.Pro1376=)
c.4092T>C (p.Pro1364=)
19g.7117074A>TCA505216059INSRc.4131T>A (p.Pro1377=)
c.4095T>A (p.Pro1365=)
c.4206T>A (p.Pro1402=)
c.4170T>A (p.Pro1390=)
c.4128T>A (p.Pro1376=)
c.4092T>A (p.Pro1364=)
19g.7117075G>ACA403668229INSRc.4130C>T (p.Pro1377Leu)
c.4094C>T (p.Pro1365Leu)
c.4205C>T (p.Pro1402Leu)
c.4169C>T (p.Pro1390Leu)
c.4127C>T (p.Pro1376Leu)
c.4091C>T (p.Pro1364Leu)
gnomAD v4
19g.7117075G>CCA403668227INSRc.4130C>G (p.Pro1377Arg)
c.4094C>G (p.Pro1365Arg)
c.4205C>G (p.Pro1402Arg)
c.4169C>G (p.Pro1390Arg)
c.4127C>G (p.Pro1376Arg)
c.4091C>G (p.Pro1364Arg)
19g.7117075G>TCA403668228INSRc.4130C>A (p.Pro1377His)
c.4094C>A (p.Pro1365His)
c.4205C>A (p.Pro1402His)
c.4169C>A (p.Pro1390His)
c.4127C>A (p.Pro1376His)
c.4091C>A (p.Pro1364His)
19g.7117076G>ACA403668230INSRc.4129C>T (p.Pro1377Ser)
c.4093C>T (p.Pro1365Ser)
c.4204C>T (p.Pro1402Ser)
c.4168C>T (p.Pro1390Ser)
c.4126C>T (p.Pro1376Ser)
c.4090C>T (p.Pro1364Ser)
dbSNP gnomAD v2 gnomAD v4
19g.7117076G>CCA403668231INSRc.4129C>G (p.Pro1377Ala)
c.4093C>G (p.Pro1365Ala)
c.4204C>G (p.Pro1402Ala)
c.4168C>G (p.Pro1390Ala)
c.4126C>G (p.Pro1376Ala)
c.4090C>G (p.Pro1364Ala)
19g.7117076G=CA2320763988INSRc.4129C= (p.Pro1377=)
c.4093C= (p.Pro1365=)
c.4204C= (p.Pro1402=)
c.4168C= (p.Pro1390=)
c.4126C= (p.Pro1376=)
c.4090C= (p.Pro1364=)
19g.7117076G>TCA403668232INSRc.4129C>A (p.Pro1377Thr)
c.4093C>A (p.Pro1365Thr)
c.4204C>A (p.Pro1402Thr)
c.4168C>A (p.Pro1390Thr)
c.4126C>A (p.Pro1376Thr)
c.4090C>A (p.Pro1364Thr)
19g.7117077C>ACA403668233INSRc.4128G>T (p.Leu1376Phe)
c.4092G>T (p.Leu1364Phe)
c.4203G>T (p.Leu1401Phe)
c.4167G>T (p.Leu1389Phe)
c.4125G>T (p.Leu1375Phe)
c.4089G>T (p.Leu1363Phe)
19g.7117077C=CA2320763992INSRc.4128G= (p.Leu1376=)
c.4092G= (p.Leu1364=)
c.4203G= (p.Leu1401=)
c.4167G= (p.Leu1389=)
c.4125G= (p.Leu1375=)
c.4089G= (p.Leu1363=)
19g.7117077C>GCA403668234INSRc.4128G>C (p.Leu1376Phe)
c.4092G>C (p.Leu1364Phe)
c.4203G>C (p.Leu1401Phe)
c.4167G>C (p.Leu1389Phe)
c.4125G>C (p.Leu1375Phe)
c.4089G>C (p.Leu1363Phe)
19g.7117077C>TCA9135086INSRc.4128G>A (p.Leu1376=)
c.4092G>A (p.Leu1364=)
c.4203G>A (p.Leu1401=)
c.4167G>A (p.Leu1389=)
c.4125G>A (p.Leu1375=)
c.4089G>A (p.Leu1363=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7117078A>CCA403668235INSRc.4127T>G (p.Leu1376Trp)
c.4091T>G (p.Leu1364Trp)
c.4202T>G (p.Leu1401Trp)
c.4166T>G (p.Leu1389Trp)
c.4124T>G (p.Leu1375Trp)
c.4088T>G (p.Leu1363Trp)
19g.7117078A>GCA403668236INSRc.4127T>C (p.Leu1376Ser)
c.4091T>C (p.Leu1364Ser)
c.4202T>C (p.Leu1401Ser)
c.4166T>C (p.Leu1389Ser)
c.4124T>C (p.Leu1375Ser)
c.4088T>C (p.Leu1363Ser)
gnomAD v4
19g.7117078A>TCA403668237INSRc.4127T>A (p.Leu1376Ter)
c.4091T>A (p.Leu1364Ter)
c.4202T>A (p.Leu1401Ter)
c.4166T>A (p.Leu1389Ter)
c.4124T>A (p.Leu1375Ter)
c.4088T>A (p.Leu1363Ter)
19g.7117079A>CCA403668238INSRc.4126T>G (p.Leu1376Val)
c.4090T>G (p.Leu1364Val)
c.4201T>G (p.Leu1401Val)
c.4165T>G (p.Leu1389Val)
c.4123T>G (p.Leu1375Val)
c.4087T>G (p.Leu1363Val)
19g.7117079A>GCA505216062INSRc.4126T>C (p.Leu1376=)
c.4090T>C (p.Leu1364=)
c.4201T>C (p.Leu1401=)
c.4165T>C (p.Leu1389=)
c.4123T>C (p.Leu1375=)
c.4087T>C (p.Leu1363=)
19g.7117079A>TCA403668239INSRc.4126T>A (p.Leu1376Met)
c.4090T>A (p.Leu1364Met)
c.4201T>A (p.Leu1401Met)
c.4165T>A (p.Leu1389Met)
c.4123T>A (p.Leu1375Met)
c.4087T>A (p.Leu1363Met)
19g.7117080G>ACA505216065INSRc.4125C>T (p.Thr1375=)
c.4089C>T (p.Thr1363=)
c.4200C>T (p.Thr1400=)
c.4164C>T (p.Thr1388=)
c.4122C>T (p.Thr1374=)
c.4086C>T (p.Thr1362=)
19g.7117080G>CCA505216064INSRc.4125C>G (p.Thr1375=)
c.4089C>G (p.Thr1363=)
c.4200C>G (p.Thr1400=)
c.4164C>G (p.Thr1388=)
c.4122C>G (p.Thr1374=)
c.4086C>G (p.Thr1362=)
19g.7117080G>TCA505216063INSRc.4125C>A (p.Thr1375=)
c.4089C>A (p.Thr1363=)
c.4200C>A (p.Thr1400=)
c.4164C>A (p.Thr1388=)
c.4122C>A (p.Thr1374=)
c.4086C>A (p.Thr1362=)
19g.7117081G>ACA403668242INSRc.4124C>T (p.Thr1375Ile)
c.4088C>T (p.Thr1363Ile)
c.4199C>T (p.Thr1400Ile)
c.4163C>T (p.Thr1388Ile)
c.4121C>T (p.Thr1374Ile)
c.4085C>T (p.Thr1362Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7117081G>CCA403668241INSRc.4124C>G (p.Thr1375Ser)
c.4088C>G (p.Thr1363Ser)
c.4199C>G (p.Thr1400Ser)
c.4163C>G (p.Thr1388Ser)
c.4121C>G (p.Thr1374Ser)
c.4085C>G (p.Thr1362Ser)
19g.7117081G=CA2320763994INSRc.4124C= (p.Thr1375=)
c.4088C= (p.Thr1363=)
c.4199C= (p.Thr1400=)
c.4163C= (p.Thr1388=)
c.4121C= (p.Thr1374=)
c.4085C= (p.Thr1362=)
19g.7117081G>TCA403668240INSRc.4124C>A (p.Thr1375Asn)
c.4088C>A (p.Thr1363Asn)
c.4199C>A (p.Thr1400Asn)
c.4163C>A (p.Thr1388Asn)
c.4121C>A (p.Thr1374Asn)
c.4085C>A (p.Thr1362Asn)
19g.7117082T>ACA403668245INSRc.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
19g.7117082T>CCA403668243INSRc.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)
19g.7117082T>GCA403668244INSRc.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)
19g.7117083C>ACA505216070INSRc.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
19g.7117083C=CA2320763996INSRc.4122G= (p.Leu1374=)
c.4086G= (p.Leu1362=)
c.4197G= (p.Leu1399=)
c.4161G= (p.Leu1387=)
c.4119G= (p.Leu1373=)
c.4083G= (p.Leu1361=)
19g.7117083C>GCA505216068INSRc.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=)
19g.7117083C>TCA505216067INSRc.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=)
19g.7117084A>CCA403668246INSRc.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
19g.7117084A>GCA403668247INSRc.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)
19g.7117084A>TCA403668248INSRc.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)
19g.7117085G>ACA505216072INSRc.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
19g.7117085G>CCA403668249INSRc.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)
19g.7117085G=CA2320763999INSRc.4120C= (p.Leu1374=)
c.4084C= (p.Leu1362=)
c.4195C= (p.Leu1399=)
c.4159C= (p.Leu1387=)
c.4117C= (p.Leu1373=)
c.4081C= (p.Leu1361=)
19g.7117085G>TCA403668250INSRc.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)
19g.7117086A>CCA403668251INSRc.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)
19g.7117086A>GCA505216074INSRc.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=)
19g.7117086A>TCA505216073INSRc.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=)
19g.7117087A>CCA403668252INSRc.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)
19g.7117087A>GCA403668253INSRc.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
19g.7117087A>TCA403668254INSRc.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)
19g.7117088T>ACA403668255INSRc.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)
19g.7117088T>CCA403668256INSRc.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)
19g.7117088T>GCA403668257INSRc.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)
19g.7117089C>ACA505216076INSRc.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=)
19g.7117089C=CA2320764002INSRc.4116G= (p.Arg1372=)
c.4080G= (p.Arg1360=)
c.4191G= (p.Arg1397=)
c.4155G= (p.Arg1385=)
c.4113G= (p.Arg1371=)
c.4077G= (p.Arg1359=)
19g.7117089C>GCA505216075INSRc.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=)
19g.7117089C>TCA9135087INSRc.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
19g.7117090C>ACA403668258INSRc.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)
19g.7117090C=CA2320764004INSRc.4115G= (p.Arg1372=)
c.4079G= (p.Arg1360=)
c.4190G= (p.Arg1397=)
c.4154G= (p.Arg1385=)
c.4112G= (p.Arg1371=)
c.4076G= (p.Arg1359=)
19g.7117090C>GCA403668259INSRc.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)
19g.7117090C>TCA9135088INSRc.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
19g.7117091G>ACA9135089INSRc.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
19g.7117091G>CCA403668260INSRc.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)
19g.7117091G=CA2320764005INSRc.4114C= (p.Arg1372=)
c.4078C= (p.Arg1360=)
c.4189C= (p.Arg1397=)
c.4153C= (p.Arg1385=)
c.4111C= (p.Arg1371=)
c.4075C= (p.Arg1359=)
19g.7117091G>TCA505216077INSRc.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=)
19g.7117092C>ACA505216079INSRc.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=)
19g.7117092C=CA2320764008INSRc.4113G= (p.Gly1371=)
c.4077G= (p.Gly1359=)
c.4188G= (p.Gly1396=)
c.4152G= (p.Gly1384=)
c.4110G= (p.Gly1370=)
c.4074G= (p.Gly1358=)
19g.7117092C>GCA505216078INSRc.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=)
19g.7117092C>TCA304866303INSRc.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
19g.7117093C>ACA403668261INSRc.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)
19g.7117093C>GCA403668262INSRc.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)
19g.7117093C>TCA403668263INSRc.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)
19g.7117094C>ACA403668264INSRc.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)
19g.7117094C=CA2320764012INSRc.4111G= (p.Gly1371=)
c.4075G= (p.Gly1359=)
c.4186G= (p.Gly1396=)
c.4150G= (p.Gly1384=)
c.4108G= (p.Gly1370=)
c.4072G= (p.Gly1358=)
19g.7117094C>GCA403668265INSRc.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)
19g.7117094C>TCA403668266INSRc.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
19g.7117095G>ACA9135090INSRc.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
19g.7117095G>CCA403668267INSRc.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)
19g.7117095G=CA2320764015INSRc.4110C= (p.Asn1370=)
c.4074C= (p.Asn1358=)
c.4185C= (p.Asn1395=)
c.4149C= (p.Asn1383=)
c.4107C= (p.Asn1369=)
c.4071C= (p.Asn1357=)
19g.7117095G>TCA403668268INSRc.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)
19g.7117096T>ACA403668271INSRc.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)
19g.7117096T>CCA403668270INSRc.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)
19g.7117096T>GCA403668269INSRc.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)
19g.7117097T>ACA403668272INSRc.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)
19g.7117097T>CCA403668274INSRc.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)
19g.7117097T>GCA403668273INSRc.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)
19g.7117098T>ACA403668275INSRc.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)
19g.7117098T>CCA505216095INSRc.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=)
19g.7117098T>GCA403668276INSRc.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)
19g.7117099T>ACA403668277INSRc.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)
19g.7117099T>CCA403668278INSRc.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
19g.7117099T>GCA403668279INSRc.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)
19g.7117100T>ACA403668280INSRc.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)
19g.7117100T>CCA403668281INSRc.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)
19g.7117100T>GCA403668282INSRc.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)
19g.7117101C>ACA403668283INSRc.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)
19g.7117101C>GCA403668284INSRc.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)
19g.7117101C>TCA505216107INSRc.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=)
19g.7117102T>ACA403668287INSRc.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)
19g.7117102T>CCA403668286INSRc.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)
19g.7117102T>GCA403668285INSRc.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)
19g.7117103T>ACA403668288INSRc.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)
19g.7117103T>CCA403668289INSRc.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)
19g.7117103T>GCA403668290INSRc.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)
19g.7117104G>ACA505216127INSRc.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=)
19g.7117104G>CCA505216122INSRc.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=)
19g.7117104G=CA2320764017INSRc.4101C= (p.Gly1367=)
c.4065C= (p.Gly1355=)
c.4176C= (p.Gly1392=)
c.4140C= (p.Gly1380=)
c.4098C= (p.Gly1366=)
c.4062C= (p.Gly1354=)
19g.7117104G>TCA505216124INSRc.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
19g.7117105C>ACA403668291INSRc.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)
19g.7117105C>GCA403668292INSRc.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)
19g.7117105C>TCA403668293INSRc.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
19g.7117106C>ACA403668294INSRc.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)
19g.7117106C>GCA403668295INSRc.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)
19g.7117106C>TCA403668296INSRc.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)
19g.7117107T>ACA505400002INSRc.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=)
19g.7117107T>CCA505400003INSRc.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=)
19g.7117107T>GCA505400004INSRc.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=)
19g.7117108C>ACA403668297INSRc.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)
19g.7117108C>GCA403668298INSRc.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)
19g.7117108C>TCA403668299INSRc.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)
19g.7117109C>ACA403668302INSRc.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)
19g.7117109C>GCA403668301INSRc.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)
19g.7117109C>TCA403668300INSRc.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
19g.7117110G>ACA304866304INSRc.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
19g.7117110G>CCA403668304INSRc.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)
19g.7117110G=CA2320764020INSRc.4095C= (p.Asn1365=)
c.4059C= (p.Asn1353=)
c.4170C= (p.Asn1390=)
c.4134C= (p.Asn1378=)
c.4092C= (p.Asn1364=)
c.4056C= (p.Asn1352=)
19g.7117110G>TCA403668303INSRc.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
19g.7117111T>ACA403668305INSRc.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)
19g.7117111T>CCA403668306INSRc.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)
19g.7117111T>GCA403668307INSRc.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)
19g.7117112T>ACA403668308INSRc.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)
19g.7117112T>CCA9135091INSRc.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
19g.7117112T>GCA403668309INSRc.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)
19g.7117112T=CA2320764022INSRc.4093A= (p.Asn1365=)
c.4057A= (p.Asn1353=)
c.4168A= (p.Asn1390=)
c.4132A= (p.Asn1378=)
c.4090A= (p.Asn1364=)
c.4054A= (p.Asn1352=)
19g.7117113C>ACA403668310INSRc.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)
19g.7117113C>GCA403668311INSRc.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)
19g.7117113C>TCA403668312INSRc.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
19g.7117114A=CA2320764026INSRc.4091T= (p.Met1364=)
c.4055T= (p.Met1352=)
c.4166T= (p.Met1389=)
c.4130T= (p.Met1377=)
c.4088T= (p.Met1363=)
c.4052T= (p.Met1351=)
19g.7117114A>CCA403668313INSRc.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)
19g.7117114A>GCA403668314INSRc.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
19g.7117114A>TCA403668315INSRc.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)
19g.7117115T>ACA403668318INSRc.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)
19g.7117115T>CCA403668316INSRc.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
19g.7117115T>GCA403668317INSRc.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)
19g.7117115T=CA2320764064INSRc.4090A= (p.Met1364=)
c.4054A= (p.Met1352=)
c.4165A= (p.Met1389=)
c.4129A= (p.Met1377=)
c.4087A= (p.Met1363=)
c.4051A= (p.Met1351=)
19g.7117122_7117123delCA2813449711INSRc.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?)
19g.7117116G>ACA9135092INSRc.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
19g.7117116G>CCA403668319INSRc.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)
19g.7117116G=CA2320764071INSRc.4089C= (p.His1363=)
c.4053C= (p.His1351=)
c.4164C= (p.His1388=)
c.4128C= (p.His1376=)
c.4086C= (p.His1362=)
c.4050C= (p.His1350=)
19g.7117116G>TCA403668320INSRc.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)
19g.7117117T>ACA403668321INSRc.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)
19g.7117117T>CCA403668322INSRc.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)
19g.7117117T>GCA403668323INSRc.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)
19g.7117118G>ACA403668324INSRc.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
19g.7117118G>CCA403668325INSRc.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)
19g.7117118G=CA2320764073INSRc.4087C= (p.His1363=)
c.4051C= (p.His1351=)
c.4162C= (p.His1388=)
c.4126C= (p.His1376=)
c.4084C= (p.His1362=)
c.4048C= (p.His1350=)
19g.7117118G>TCA403668326INSRc.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
19g.7117119T>ACA505400005INSRc.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=)
19g.7117119T>CCA304866338INSRc.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
19g.7117119T>GCA505400006INSRc.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=)
19g.7117119T=CA2320764076INSRc.4086A= (p.Thr1362=)
c.4050A= (p.Thr1350=)
c.4161A= (p.Thr1387=)
c.4125A= (p.Thr1375=)
c.4083A= (p.Thr1361=)
c.4047A= (p.Thr1349=)
19g.7117120G>ACA403668327INSRc.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
19g.7117120G>CCA403668328INSRc.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)
19g.7117120G>TCA403668329INSRc.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)
19g.7117121T>ACA403668331INSRc.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)
19g.7117121T>CCA403668332INSRc.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
19g.7117121T>GCA403668330INSRc.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)
19g.7117121T=CA2320764078INSRc.4084A= (p.Thr1362=)
c.4048A= (p.Thr1350=)
c.4159A= (p.Thr1387=)
c.4123A= (p.Thr1375=)
c.4081A= (p.Thr1361=)
c.4045A= (p.Thr1349=)
19g.7117122G>ACA505400007INSRc.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=)
19g.7117122G>CCA403668333INSRc.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)
19g.7117122G>TCA403668334INSRc.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)
19g.7117123T>ACA403668335INSRc.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
19g.7117123T>CCA9135093INSRc.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
19g.7117123T>GCA403668336INSRc.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)
19g.7117123T=CA2320764087INSRc.4082A= (p.Tyr1361=)
c.4046A= (p.Tyr1349=)
c.4157A= (p.Tyr1386=)
c.4121A= (p.Tyr1374=)
c.4079A= (p.Tyr1360=)
c.4043A= (p.Tyr1348=)
19g.7117124A>CCA403668337INSRc.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)
19g.7117124A>GCA403668339INSRc.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
19g.7117124A>TCA403668338INSRc.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)
19g.7117125A>CCA505400008INSRc.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=)
19g.7117125A>GCA505400010INSRc.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=)
19g.7117125A>TCA505400009INSRc.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=)
19g.7117126G>ACA403668340INSRc.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
19g.7117126G>CCA403668341INSRc.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
19g.7117126G=CA2320764094INSRc.4079C= (p.Pro1360=)
c.4043C= (p.Pro1348=)
c.4154C= (p.Pro1385=)
c.4118C= (p.Pro1373=)
c.4076C= (p.Pro1359=)
c.4040C= (p.Pro1347=)
19g.7117126G>TCA403668342INSRc.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)
19g.7117127G>ACA403668343INSRc.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
19g.7117127G>CCA403668344INSRc.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)
19g.7117127G>TCA403668345INSRc.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)
19g.7117128G>ACA505400011INSRc.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
19g.7117128G>CCA403668346INSRc.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)
19g.7117128G=CA2320764099INSRc.4077C= (p.Ile1359=)
c.4041C= (p.Ile1347=)
c.4152C= (p.Ile1384=)
c.4116C= (p.Ile1372=)
c.4074C= (p.Ile1358=)
c.4038C= (p.Ile1346=)
19g.7117128G>TCA505400012INSRc.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
19g.7117129A=CA2320764103INSRc.4076T= (p.Ile1359=)
c.4040T= (p.Ile1347=)
c.4151T= (p.Ile1384=)
c.4115T= (p.Ile1372=)
c.4073T= (p.Ile1358=)
c.4037T= (p.Ile1346=)
19g.7117129A>CCA403668347INSRc.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)
19g.7117129A>GCA403668348INSRc.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)
19g.7117129A>TCA403668349INSRc.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
19g.7117130T>ACA403668352INSRc.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)
19g.7117130T>CCA403668351INSRc.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)
19g.7117130T>GCA403668350INSRc.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)
19g.7117131G>ACA505400013INSRc.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=)
19g.7117131G>CCA403668353INSRc.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)
19g.7117131G>TCA403668354INSRc.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)
19g.7117132T>ACA403668355INSRc.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)
19g.7117132T>CCA403668356INSRc.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
19g.7117132T>GCA403668357INSRc.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)
19g.7117132T=CA2320764107INSRc.4073A= (p.His1358=)
c.4037A= (p.His1346=)
c.4148A= (p.His1383=)
c.4112A= (p.His1371=)
c.4070A= (p.His1357=)
c.4034A= (p.His1345=)
19g.7117133G>ACA403668358INSRc.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
19g.7117133G>CCA403668359INSRc.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)
19g.7117133G=CA2320764109INSRc.4072C= (p.His1358=)
c.4036C= (p.His1346=)
c.4147C= (p.His1383=)
c.4111C= (p.His1371=)
c.4069C= (p.His1357=)
c.4033C= (p.His1345=)
19g.7117133G>TCA403668360INSRc.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)
19g.7117134T>ACA403668361INSRc.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)
19g.7117134T>CCA9135094INSRc.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
19g.7117134T>GCA403668362INSRc.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)
19g.7117134T=CA2320764111INSRc.4071A= (p.Glu1357=)
c.4035A= (p.Glu1345=)
c.4146A= (p.Glu1382=)
c.4110A= (p.Glu1370=)
c.4068A= (p.Glu1356=)
c.4032A= (p.Glu1344=)
19g.7117135delCA2813449714INSRc.4071del (p.Glu1357AspfsTer8)
c.4035del (p.Glu1345AspfsTer8)
c.4146del (p.Glu1382AspfsTer8)
c.4110del (p.Glu1370AspfsTer8)
c.4068del (p.Glu1356AspfsTer8)
c.4032del (p.Glu1344AspfsTer8)
19g.7117135T>ACA403668364INSRc.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)
19g.7117135T>CCA403668365INSRc.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)
19g.7117135T>GCA403668363INSRc.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)
19g.7117136C>ACA403668366INSRc.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)
19g.7117136C>GCA403668367INSRc.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)
19g.7117136C>TCA403668368INSRc.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
19g.7117137C>ACA403668369INSRc.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)
19g.7117137C=CA2320764115INSRc.4068G= (p.Glu1356=)
c.4032G= (p.Glu1344=)
c.4143G= (p.Glu1381=)
c.4107G= (p.Glu1369=)
c.4065G= (p.Glu1355=)
c.4029G= (p.Glu1343=)
19g.7117137C>GCA403668370INSRc.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)
19g.7117137C>TCA505400014INSRc.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
19g.7117138T>ACA403668373INSRc.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)
19g.7117138T>CCA403668372INSRc.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)
19g.7117138T>GCA403668371INSRc.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)
19g.7117139C>ACA403668374INSRc.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)
19g.7117139C=CA2320764120INSRc.4066G= (p.Glu1356=)
c.4030G= (p.Glu1344=)
c.4141G= (p.Glu1381=)
c.4105G= (p.Glu1369=)
c.4063G= (p.Glu1355=)
c.4027G= (p.Glu1343=)
19g.7117139C>GCA403668375INSRc.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)
19g.7117139C>TCA9135095INSRc.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
19g.7117140G>ACA9135096INSRc.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
19g.7117140G>CCA403668376INSRc.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
19g.7117140G=CA2320764125INSRc.4065C= (p.Tyr1355=)
c.4029C= (p.Tyr1343=)
c.4140C= (p.Tyr1380=)
c.4104C= (p.Tyr1368=)
c.4062C= (p.Tyr1354=)
c.4026C= (p.Tyr1342=)
19g.7117140G>TCA403668377INSRc.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
19g.7117141T>ACA403668378INSRc.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)
19g.7117141T>CCA403668380INSRc.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)
19g.7117141T>GCA403668379INSRc.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)
19g.7117142A=CA2320764129INSRc.4063T= (p.Tyr1355=)
c.4027T= (p.Tyr1343=)
c.4138T= (p.Tyr1380=)
c.4102T= (p.Tyr1368=)
c.4060T= (p.Tyr1354=)
c.4024T= (p.Tyr1342=)
19g.7117142A>CCA403668381INSRc.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)
19g.7117142A>GCA9135097INSRc.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
19g.7117142A>TCA403668382INSRc.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)
19g.7117143G>ACA505400015INSRc.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
19g.7117143G>CCA403668383INSRc.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)
19g.7117143G>TCA403668384INSRc.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)
19g.7117144C>ACA403668385INSRc.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)
19g.7117144C>GCA403668386INSRc.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)
19g.7117144C>TCA403668387INSRc.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)
19g.7117145T>ACA403668388INSRc.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)
19g.7117145T>CCA403668389INSRc.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)
19g.7117145T>GCA403668390INSRc.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)
19g.7117146C>ACA505400016INSRc.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=)
19g.7117146C=CA2320764131INSRc.4059G= (p.Arg1353=)
c.4023G= (p.Arg1341=)
c.4134G= (p.Arg1378=)
c.4098G= (p.Arg1366=)
c.4056G= (p.Arg1352=)
c.4020G= (p.Arg1340=)
19g.7117146C>GCA505400017INSRc.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=)
19g.7117146C>TCA505400018INSRc.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
19g.7117147C>ACA403668392INSRc.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)
19g.7117147C=CA2320764135INSRc.4058G= (p.Arg1353=)
c.4022G= (p.Arg1341=)
c.4133G= (p.Arg1378=)
c.4097G= (p.Arg1366=)
c.4055G= (p.Arg1352=)
c.4019G= (p.Arg1340=)
19g.7117147C>GCA403668391INSRc.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)
19g.7117147C>TCA9135098INSRc.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
19g.7117148G>ACA9135099INSRc.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
19g.7117148G>CCA403668393INSRc.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)
19g.7117148G=CA2320764138INSRc.4057C= (p.Arg1353=)
c.4021C= (p.Arg1341=)
c.4132C= (p.Arg1378=)
c.4096C= (p.Arg1366=)
c.4054C= (p.Arg1352=)
c.4018C= (p.Arg1340=)
19g.7117148G>TCA505400019INSRc.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
19g.7117149C>ACA403668394INSRc.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)
19g.7117149C>GCA403668395INSRc.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)
19g.7117149C>TCA505400020INSRc.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=)
19g.7117150T>ACA403668396INSRc.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)
19g.7117150T>CCA403668397INSRc.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
19g.7117150T>GCA403668398INSRc.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)
19g.7117150T=CA2320764140INSRc.4055A= (p.Lys1352=)
c.4019A= (p.Lys1340=)
c.4130A= (p.Lys1377=)
c.4094A= (p.Lys1365=)
c.4052A= (p.Lys1351=)
c.4016A= (p.Lys1339=)
19g.7117151T>ACA403668401INSRc.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)
19g.7117151T>CCA403668399INSRc.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)
19g.7117151T>GCA403668400INSRc.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)
19g.7117152G>ACA505400021INSRc.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=)
19g.7117152G>CCA403668402INSRc.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)
19g.7117152G>TCA403668403INSRc.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)
19g.7117153A>CCA403668404INSRc.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
19g.7117153A>GCA403668405INSRc.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
19g.7117153A>TCA403668406INSRc.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)
19g.7117154A>CCA403668407INSRc.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)
19g.7117154A>GCA403668409INSRc.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)
19g.7117154A>TCA403668408INSRc.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)
19g.7117155A>CCA505400022INSRc.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=)
19g.7117155A>GCA505400023INSRc.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=)
19g.7117155A>TCA505400024INSRc.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=)

Number of alleles fetched