Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688427A=CA1248601129GTF2A1L,LHCGR,STON1-GTF2A1Lc.1370T= (p.Leu457=)
c.948-288T= (n.948-288T=)
c.3441+16747A= (n.3441+16747A=)
c.*114T= (n.*114T=)
c.1289T= (p.Leu430=)
c.276+16747A= (n.276+16747A=)
c.*220+5797T= (n.*220+5797T=)
c.413T= (p.Leu138=)
c.440T= (p.Leu147=)
c.1295T= (p.Leu432=)
c.1109T= (p.Leu370=)
c.1028T= (p.Leu343=)
c.734T= (p.Leu245=)
c.1115T= (p.Leu372=)
2g.48688427A>CCA123934GTF2A1L,LHCGR,STON1-GTF2A1Lc.1370T>G (p.Leu457Arg)
c.948-288T>G (n.948-288T>G)
c.3441+16747A>C (n.3441+16747A>C)
c.*114T>G (n.*114T>G)
c.1289T>G (p.Leu430Arg)
c.276+16747A>C (n.276+16747A>C)
c.*220+5797T>G (n.*220+5797T>G)
c.413T>G (p.Leu138Arg)
c.440T>G (p.Leu147Arg)
c.1295T>G (p.Leu432Arg)
c.1109T>G (p.Leu370Arg)
c.1028T>G (p.Leu343Arg)
c.734T>G (p.Leu245Arg)
c.1115T>G (p.Leu372Arg)
ClinVar dbSNP
2g.48688427A>GCA346747219GTF2A1L,LHCGR,STON1-GTF2A1Lc.1370T>C (p.Leu457Pro)
c.948-288T>C (n.948-288T>C)
c.3441+16747A>G (n.3441+16747A>G)
c.*114T>C (n.*114T>C)
c.1289T>C (p.Leu430Pro)
c.276+16747A>G (n.276+16747A>G)
c.*220+5797T>C (n.*220+5797T>C)
c.413T>C (p.Leu138Pro)
c.440T>C (p.Leu147Pro)
c.1295T>C (p.Leu432Pro)
c.1109T>C (p.Leu370Pro)
c.1028T>C (p.Leu343Pro)
c.734T>C (p.Leu245Pro)
c.1115T>C (p.Leu372Pro)
2g.48688427A>TCA346747216GTF2A1L,LHCGR,STON1-GTF2A1Lc.1370T>A (p.Leu457His)
c.948-288T>A (n.948-288T>A)
c.3441+16747A>T (n.3441+16747A>T)
c.*114T>A (n.*114T>A)
c.1289T>A (p.Leu430His)
c.276+16747A>T (n.276+16747A>T)
c.*220+5797T>A (n.*220+5797T>A)
c.413T>A (p.Leu138His)
c.440T>A (p.Leu147His)
c.1295T>A (p.Leu432His)
c.1109T>A (p.Leu370His)
c.1028T>A (p.Leu343His)
c.734T>A (p.Leu245His)
c.1115T>A (p.Leu372His)
2g.48688428G>ACA346747221GTF2A1L,LHCGR,STON1-GTF2A1Lc.1369C>T (p.Leu457Phe)
c.948-289C>T (n.948-289C>T)
c.3441+16748G>A (n.3441+16748G>A)
c.*113C>T (n.*113C>T)
c.1288C>T (p.Leu430Phe)
c.276+16748G>A (n.276+16748G>A)
c.*220+5796C>T (n.*220+5796C>T)
c.412C>T (p.Leu138Phe)
c.439C>T (p.Leu147Phe)
c.1294C>T (p.Leu432Phe)
c.1108C>T (p.Leu370Phe)
c.1027C>T (p.Leu343Phe)
c.733C>T (p.Leu245Phe)
c.1114C>T (p.Leu372Phe)
2g.48688428G>CCA346747224GTF2A1L,LHCGR,STON1-GTF2A1Lc.1369C>G (p.Leu457Val)
c.948-289C>G (n.948-289C>G)
c.3441+16748G>C (n.3441+16748G>C)
c.*113C>G (n.*113C>G)
c.1288C>G (p.Leu430Val)
c.276+16748G>C (n.276+16748G>C)
c.*220+5796C>G (n.*220+5796C>G)
c.412C>G (p.Leu138Val)
c.439C>G (p.Leu147Val)
c.1294C>G (p.Leu432Val)
c.1108C>G (p.Leu370Val)
c.1027C>G (p.Leu343Val)
c.733C>G (p.Leu245Val)
c.1114C>G (p.Leu372Val)
2g.48688428G>TCA346747225GTF2A1L,LHCGR,STON1-GTF2A1Lc.1369C>A (p.Leu457Ile)
c.948-289C>A (n.948-289C>A)
c.3441+16748G>T (n.3441+16748G>T)
c.*113C>A (n.*113C>A)
c.1288C>A (p.Leu430Ile)
c.276+16748G>T (n.276+16748G>T)
c.*220+5796C>A (n.*220+5796C>A)
c.412C>A (p.Leu138Ile)
c.439C>A (p.Leu147Ile)
c.1294C>A (p.Leu432Ile)
c.1108C>A (p.Leu370Ile)
c.1027C>A (p.Leu343Ile)
c.733C>A (p.Leu245Ile)
c.1114C>A (p.Leu372Ile)
2g.48688429G>ACA426125297GTF2A1L,LHCGR,STON1-GTF2A1Lc.1368C>T (p.Thr456=)
c.948-290C>T (n.948-290C>T)
c.3441+16749G>A (n.3441+16749G>A)
c.*112C>T (n.*112C>T)
c.1287C>T (p.Thr429=)
c.276+16749G>A (n.276+16749G>A)
c.*220+5795C>T (n.*220+5795C>T)
c.411C>T (p.Thr137=)
c.438C>T (p.Thr146=)
c.1293C>T (p.Thr431=)
c.1107C>T (p.Thr369=)
c.1026C>T (p.Thr342=)
c.732C>T (p.Thr244=)
c.1113C>T (p.Thr371=)
2g.48688429G>CCA426125302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1368C>G (p.Thr456=)
c.948-290C>G (n.948-290C>G)
c.3441+16749G>C (n.3441+16749G>C)
c.*112C>G (n.*112C>G)
c.1287C>G (p.Thr429=)
c.276+16749G>C (n.276+16749G>C)
c.*220+5795C>G (n.*220+5795C>G)
c.411C>G (p.Thr137=)
c.438C>G (p.Thr146=)
c.1293C>G (p.Thr431=)
c.1107C>G (p.Thr369=)
c.1026C>G (p.Thr342=)
c.732C>G (p.Thr244=)
c.1113C>G (p.Thr371=)
2g.48688429G>TCA426125294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1368C>A (p.Thr456=)
c.948-290C>A (n.948-290C>A)
c.3441+16749G>T (n.3441+16749G>T)
c.*112C>A (n.*112C>A)
c.1287C>A (p.Thr429=)
c.276+16749G>T (n.276+16749G>T)
c.*220+5795C>A (n.*220+5795C>A)
c.411C>A (p.Thr137=)
c.438C>A (p.Thr146=)
c.1293C>A (p.Thr431=)
c.1107C>A (p.Thr369=)
c.1026C>A (p.Thr342=)
c.732C>A (p.Thr244=)
c.1113C>A (p.Thr371=)
2g.48688430G>ACA346747229GTF2A1L,LHCGR,STON1-GTF2A1Lc.1367C>T (p.Thr456Ile)
c.948-291C>T (n.948-291C>T)
c.3441+16750G>A (n.3441+16750G>A)
c.*111C>T (n.*111C>T)
c.1286C>T (p.Thr429Ile)
c.276+16750G>A (n.276+16750G>A)
c.*220+5794C>T (n.*220+5794C>T)
c.410C>T (p.Thr137Ile)
c.437C>T (p.Thr146Ile)
c.1292C>T (p.Thr431Ile)
c.1106C>T (p.Thr369Ile)
c.1025C>T (p.Thr342Ile)
c.731C>T (p.Thr244Ile)
c.1112C>T (p.Thr371Ile)
2g.48688430G>CCA1653040GTF2A1L,LHCGR,STON1-GTF2A1Lc.1367C>G (p.Thr456Ser)
c.948-291C>G (n.948-291C>G)
c.3441+16750G>C (n.3441+16750G>C)
c.*111C>G (n.*111C>G)
c.1286C>G (p.Thr429Ser)
c.276+16750G>C (n.276+16750G>C)
c.*220+5794C>G (n.*220+5794C>G)
c.410C>G (p.Thr137Ser)
c.437C>G (p.Thr146Ser)
c.1292C>G (p.Thr431Ser)
c.1106C>G (p.Thr369Ser)
c.1025C>G (p.Thr342Ser)
c.731C>G (p.Thr244Ser)
c.1112C>G (p.Thr371Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688430G=CA1248601130GTF2A1L,LHCGR,STON1-GTF2A1Lc.1367C= (p.Thr456=)
c.948-291C= (n.948-291C=)
c.3441+16750G= (n.3441+16750G=)
c.*111C= (n.*111C=)
c.1286C= (p.Thr429=)
c.276+16750G= (n.276+16750G=)
c.*220+5794C= (n.*220+5794C=)
c.410C= (p.Thr137=)
c.437C= (p.Thr146=)
c.1292C= (p.Thr431=)
c.1106C= (p.Thr369=)
c.1025C= (p.Thr342=)
c.731C= (p.Thr244=)
c.1112C= (p.Thr371=)
2g.48688430G>TCA346747235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1367C>A (p.Thr456Asn)
c.948-291C>A (n.948-291C>A)
c.3441+16750G>T (n.3441+16750G>T)
c.*111C>A (n.*111C>A)
c.1286C>A (p.Thr429Asn)
c.276+16750G>T (n.276+16750G>T)
c.*220+5794C>A (n.*220+5794C>A)
c.410C>A (p.Thr137Asn)
c.437C>A (p.Thr146Asn)
c.1292C>A (p.Thr431Asn)
c.1106C>A (p.Thr369Asn)
c.1025C>A (p.Thr342Asn)
c.731C>A (p.Thr244Asn)
c.1112C>A (p.Thr371Asn)
2g.48688431T>ACA346747238GTF2A1L,LHCGR,STON1-GTF2A1Lc.1366A>T (p.Thr456Ser)
c.948-292A>T (n.948-292A>T)
c.3441+16751T>A (n.3441+16751T>A)
c.*110A>T (n.*110A>T)
c.1285A>T (p.Thr429Ser)
c.276+16751T>A (n.276+16751T>A)
c.*220+5793A>T (n.*220+5793A>T)
c.409A>T (p.Thr137Ser)
c.436A>T (p.Thr146Ser)
c.1291A>T (p.Thr431Ser)
c.1105A>T (p.Thr369Ser)
c.1024A>T (p.Thr342Ser)
c.730A>T (p.Thr244Ser)
c.1111A>T (p.Thr371Ser)
gnomAD v4
2g.48688431T>CCA346747239GTF2A1L,LHCGR,STON1-GTF2A1Lc.1366A>G (p.Thr456Ala)
c.948-292A>G (n.948-292A>G)
c.3441+16751T>C (n.3441+16751T>C)
c.*110A>G (n.*110A>G)
c.1285A>G (p.Thr429Ala)
c.276+16751T>C (n.276+16751T>C)
c.*220+5793A>G (n.*220+5793A>G)
c.409A>G (p.Thr137Ala)
c.436A>G (p.Thr146Ala)
c.1291A>G (p.Thr431Ala)
c.1105A>G (p.Thr369Ala)
c.1024A>G (p.Thr342Ala)
c.730A>G (p.Thr244Ala)
c.1111A>G (p.Thr371Ala)
2g.48688431T>GCA346747242GTF2A1L,LHCGR,STON1-GTF2A1Lc.1366A>C (p.Thr456Pro)
c.948-292A>C (n.948-292A>C)
c.3441+16751T>G (n.3441+16751T>G)
c.*110A>C (n.*110A>C)
c.1285A>C (p.Thr429Pro)
c.276+16751T>G (n.276+16751T>G)
c.*220+5793A>C (n.*220+5793A>C)
c.409A>C (p.Thr137Pro)
c.436A>C (p.Thr146Pro)
c.1291A>C (p.Thr431Pro)
c.1105A>C (p.Thr369Pro)
c.1024A>C (p.Thr342Pro)
c.730A>C (p.Thr244Pro)
c.1111A>C (p.Thr371Pro)
2g.48688432G>ACA426125308GTF2A1L,LHCGR,STON1-GTF2A1Lc.1365C>T (p.Tyr455=)
c.948-293C>T (n.948-293C>T)
c.3441+16752G>A (n.3441+16752G>A)
c.*109C>T (n.*109C>T)
c.1284C>T (p.Tyr428=)
c.276+16752G>A (n.276+16752G>A)
c.*220+5792C>T (n.*220+5792C>T)
c.408C>T (p.Tyr136=)
c.435C>T (p.Tyr145=)
c.1290C>T (p.Tyr430=)
c.1104C>T (p.Tyr368=)
c.1023C>T (p.Tyr341=)
c.729C>T (p.Tyr243=)
c.1110C>T (p.Tyr370=)
2g.48688432G>CCA346747246GTF2A1L,LHCGR,STON1-GTF2A1Lc.1365C>G (p.Tyr455Ter)
c.948-293C>G (n.948-293C>G)
c.3441+16752G>C (n.3441+16752G>C)
c.*109C>G (n.*109C>G)
c.1284C>G (p.Tyr428Ter)
c.276+16752G>C (n.276+16752G>C)
c.*220+5792C>G (n.*220+5792C>G)
c.408C>G (p.Tyr136Ter)
c.435C>G (p.Tyr145Ter)
c.1290C>G (p.Tyr430Ter)
c.1104C>G (p.Tyr368Ter)
c.1023C>G (p.Tyr341Ter)
c.729C>G (p.Tyr243Ter)
c.1110C>G (p.Tyr370Ter)
2g.48688432G>TCA346747249GTF2A1L,LHCGR,STON1-GTF2A1Lc.1365C>A (p.Tyr455Ter)
c.948-293C>A (n.948-293C>A)
c.3441+16752G>T (n.3441+16752G>T)
c.*109C>A (n.*109C>A)
c.1284C>A (p.Tyr428Ter)
c.276+16752G>T (n.276+16752G>T)
c.*220+5792C>A (n.*220+5792C>A)
c.408C>A (p.Tyr136Ter)
c.435C>A (p.Tyr145Ter)
c.1290C>A (p.Tyr430Ter)
c.1104C>A (p.Tyr368Ter)
c.1023C>A (p.Tyr341Ter)
c.729C>A (p.Tyr243Ter)
c.1110C>A (p.Tyr370Ter)
gnomAD v4
2g.48688433T>ACA346747252GTF2A1L,LHCGR,STON1-GTF2A1Lc.1364A>T (p.Tyr455Phe)
c.948-294A>T (n.948-294A>T)
c.3441+16753T>A (n.3441+16753T>A)
c.*108A>T (n.*108A>T)
c.1283A>T (p.Tyr428Phe)
c.276+16753T>A (n.276+16753T>A)
c.*220+5791A>T (n.*220+5791A>T)
c.407A>T (p.Tyr136Phe)
c.434A>T (p.Tyr145Phe)
c.1289A>T (p.Tyr430Phe)
c.1103A>T (p.Tyr368Phe)
c.1022A>T (p.Tyr341Phe)
c.728A>T (p.Tyr243Phe)
c.1109A>T (p.Tyr370Phe)
gnomAD v4
2g.48688433T>CCA346747253GTF2A1L,LHCGR,STON1-GTF2A1Lc.1364A>G (p.Tyr455Cys)
c.948-294A>G (n.948-294A>G)
c.3441+16753T>C (n.3441+16753T>C)
c.*108A>G (n.*108A>G)
c.1283A>G (p.Tyr428Cys)
c.276+16753T>C (n.276+16753T>C)
c.*220+5791A>G (n.*220+5791A>G)
c.407A>G (p.Tyr136Cys)
c.434A>G (p.Tyr145Cys)
c.1289A>G (p.Tyr430Cys)
c.1103A>G (p.Tyr368Cys)
c.1022A>G (p.Tyr341Cys)
c.728A>G (p.Tyr243Cys)
c.1109A>G (p.Tyr370Cys)
2g.48688433T>GCA346747255GTF2A1L,LHCGR,STON1-GTF2A1Lc.1364A>C (p.Tyr455Ser)
c.948-294A>C (n.948-294A>C)
c.3441+16753T>G (n.3441+16753T>G)
c.*108A>C (n.*108A>C)
c.1283A>C (p.Tyr428Ser)
c.276+16753T>G (n.276+16753T>G)
c.*220+5791A>C (n.*220+5791A>C)
c.407A>C (p.Tyr136Ser)
c.434A>C (p.Tyr145Ser)
c.1289A>C (p.Tyr430Ser)
c.1103A>C (p.Tyr368Ser)
c.1022A>C (p.Tyr341Ser)
c.728A>C (p.Tyr243Ser)
c.1109A>C (p.Tyr370Ser)
2g.48688434A>CCA346747260GTF2A1L,LHCGR,STON1-GTF2A1Lc.1363T>G (p.Tyr455Asp)
c.948-295T>G (n.948-295T>G)
c.3441+16754A>C (n.3441+16754A>C)
c.*107T>G (n.*107T>G)
c.1282T>G (p.Tyr428Asp)
c.276+16754A>C (n.276+16754A>C)
c.*220+5790T>G (n.*220+5790T>G)
c.406T>G (p.Tyr136Asp)
c.433T>G (p.Tyr145Asp)
c.1288T>G (p.Tyr430Asp)
c.1102T>G (p.Tyr368Asp)
c.1021T>G (p.Tyr341Asp)
c.727T>G (p.Tyr243Asp)
c.1108T>G (p.Tyr370Asp)
2g.48688434A>GCA346747261GTF2A1L,LHCGR,STON1-GTF2A1Lc.1363T>C (p.Tyr455His)
c.948-295T>C (n.948-295T>C)
c.3441+16754A>G (n.3441+16754A>G)
c.*107T>C (n.*107T>C)
c.1282T>C (p.Tyr428His)
c.276+16754A>G (n.276+16754A>G)
c.*220+5790T>C (n.*220+5790T>C)
c.406T>C (p.Tyr136His)
c.433T>C (p.Tyr145His)
c.1288T>C (p.Tyr430His)
c.1102T>C (p.Tyr368His)
c.1021T>C (p.Tyr341His)
c.727T>C (p.Tyr243His)
c.1108T>C (p.Tyr370His)
2g.48688434A>TCA346747257GTF2A1L,LHCGR,STON1-GTF2A1Lc.1363T>A (p.Tyr455Asn)
c.948-295T>A (n.948-295T>A)
c.3441+16754A>T (n.3441+16754A>T)
c.*107T>A (n.*107T>A)
c.1282T>A (p.Tyr428Asn)
c.276+16754A>T (n.276+16754A>T)
c.*220+5790T>A (n.*220+5790T>A)
c.406T>A (p.Tyr136Asn)
c.433T>A (p.Tyr145Asn)
c.1288T>A (p.Tyr430Asn)
c.1102T>A (p.Tyr368Asn)
c.1021T>A (p.Tyr341Asn)
c.727T>A (p.Tyr243Asn)
c.1108T>A (p.Tyr370Asn)
2g.48688435G>ACA426125332GTF2A1L,LHCGR,STON1-GTF2A1Lc.1362C>T (p.Val454=)
c.948-296C>T (n.948-296C>T)
c.3441+16755G>A (n.3441+16755G>A)
c.*106C>T (n.*106C>T)
c.1281C>T (p.Val427=)
c.276+16755G>A (n.276+16755G>A)
c.*220+5789C>T (n.*220+5789C>T)
c.405C>T (p.Val135=)
c.432C>T (p.Val144=)
c.1287C>T (p.Val429=)
c.1101C>T (p.Val367=)
c.1020C>T (p.Val340=)
c.726C>T (p.Val242=)
c.1107C>T (p.Val369=)
2g.48688435G>CCA426125333GTF2A1L,LHCGR,STON1-GTF2A1Lc.1362C>G (p.Val454=)
c.948-296C>G (n.948-296C>G)
c.3441+16755G>C (n.3441+16755G>C)
c.*106C>G (n.*106C>G)
c.1281C>G (p.Val427=)
c.276+16755G>C (n.276+16755G>C)
c.*220+5789C>G (n.*220+5789C>G)
c.405C>G (p.Val135=)
c.432C>G (p.Val144=)
c.1287C>G (p.Val429=)
c.1101C>G (p.Val367=)
c.1020C>G (p.Val340=)
c.726C>G (p.Val242=)
c.1107C>G (p.Val369=)
dbSNP gnomAD v2 gnomAD v4
2g.48688435G=CA1248601131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1362C= (p.Val454=)
c.948-296C= (n.948-296C=)
c.3441+16755G= (n.3441+16755G=)
c.*106C= (n.*106C=)
c.1281C= (p.Val427=)
c.276+16755G= (n.276+16755G=)
c.*220+5789C= (n.*220+5789C=)
c.405C= (p.Val135=)
c.432C= (p.Val144=)
c.1287C= (p.Val429=)
c.1101C= (p.Val367=)
c.1020C= (p.Val340=)
c.726C= (p.Val242=)
c.1107C= (p.Val369=)
2g.48688435G>TCA426125336GTF2A1L,LHCGR,STON1-GTF2A1Lc.1362C>A (p.Val454=)
c.948-296C>A (n.948-296C>A)
c.3441+16755G>T (n.3441+16755G>T)
c.*106C>A (n.*106C>A)
c.1281C>A (p.Val427=)
c.276+16755G>T (n.276+16755G>T)
c.*220+5789C>A (n.*220+5789C>A)
c.405C>A (p.Val135=)
c.432C>A (p.Val144=)
c.1287C>A (p.Val429=)
c.1101C>A (p.Val367=)
c.1020C>A (p.Val340=)
c.726C>A (p.Val242=)
c.1107C>A (p.Val369=)
2g.48688436A=CA1248601132GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T= (p.Val454=)
c.948-297T= (n.948-297T=)
c.3441+16756A= (n.3441+16756A=)
c.*105T= (n.*105T=)
c.1280T= (p.Val427=)
c.276+16756A= (n.276+16756A=)
c.*220+5788T= (n.*220+5788T=)
c.404T= (p.Val135=)
c.431T= (p.Val144=)
c.1286T= (p.Val429=)
c.1100T= (p.Val367=)
c.1019T= (p.Val340=)
c.725T= (p.Val242=)
c.1106T= (p.Val369=)
2g.48688436A>CCA346747264GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>G (p.Val454Gly)
c.948-297T>G (n.948-297T>G)
c.3441+16756A>C (n.3441+16756A>C)
c.*105T>G (n.*105T>G)
c.1280T>G (p.Val427Gly)
c.276+16756A>C (n.276+16756A>C)
c.*220+5788T>G (n.*220+5788T>G)
c.404T>G (p.Val135Gly)
c.431T>G (p.Val144Gly)
c.1286T>G (p.Val429Gly)
c.1100T>G (p.Val367Gly)
c.1019T>G (p.Val340Gly)
c.725T>G (p.Val242Gly)
c.1106T>G (p.Val369Gly)
2g.48688436A>GCA46753007GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>C (p.Val454Ala)
c.948-297T>C (n.948-297T>C)
c.3441+16756A>G (n.3441+16756A>G)
c.*105T>C (n.*105T>C)
c.1280T>C (p.Val427Ala)
c.276+16756A>G (n.276+16756A>G)
c.*220+5788T>C (n.*220+5788T>C)
c.404T>C (p.Val135Ala)
c.431T>C (p.Val144Ala)
c.1286T>C (p.Val429Ala)
c.1100T>C (p.Val367Ala)
c.1019T>C (p.Val340Ala)
c.725T>C (p.Val242Ala)
c.1106T>C (p.Val369Ala)
dbSNP gnomAD v4
2g.48688436A>TCA346747267GTF2A1L,LHCGR,STON1-GTF2A1Lc.1361T>A (p.Val454Asp)
c.948-297T>A (n.948-297T>A)
c.3441+16756A>T (n.3441+16756A>T)
c.*105T>A (n.*105T>A)
c.1280T>A (p.Val427Asp)
c.276+16756A>T (n.276+16756A>T)
c.*220+5788T>A (n.*220+5788T>A)
c.404T>A (p.Val135Asp)
c.431T>A (p.Val144Asp)
c.1286T>A (p.Val429Asp)
c.1100T>A (p.Val367Asp)
c.1019T>A (p.Val340Asp)
c.725T>A (p.Val242Asp)
c.1106T>A (p.Val369Asp)
2g.48688437C>ACA346747269GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>T (p.Val454Phe)
c.948-298G>T (n.948-298G>T)
c.3441+16757C>A (n.3441+16757C>A)
c.*104G>T (n.*104G>T)
c.1279G>T (p.Val427Phe)
c.276+16757C>A (n.276+16757C>A)
c.*220+5787G>T (n.*220+5787G>T)
c.403G>T (p.Val135Phe)
c.430G>T (p.Val144Phe)
c.1285G>T (p.Val429Phe)
c.1099G>T (p.Val367Phe)
c.1018G>T (p.Val340Phe)
c.724G>T (p.Val242Phe)
c.1105G>T (p.Val369Phe)
2g.48688437C=CA1248601133GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G= (p.Val454=)
c.948-298G= (n.948-298G=)
c.3441+16757C= (n.3441+16757C=)
c.*104G= (n.*104G=)
c.1279G= (p.Val427=)
c.276+16757C= (n.276+16757C=)
c.*220+5787G= (n.*220+5787G=)
c.403G= (p.Val135=)
c.430G= (p.Val144=)
c.1285G= (p.Val429=)
c.1099G= (p.Val367=)
c.1018G= (p.Val340=)
c.724G= (p.Val242=)
c.1105G= (p.Val369=)
2g.48688437C>GCA346747271GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>C (p.Val454Leu)
c.948-298G>C (n.948-298G>C)
c.3441+16757C>G (n.3441+16757C>G)
c.*104G>C (n.*104G>C)
c.1279G>C (p.Val427Leu)
c.276+16757C>G (n.276+16757C>G)
c.*220+5787G>C (n.*220+5787G>C)
c.403G>C (p.Val135Leu)
c.430G>C (p.Val144Leu)
c.1285G>C (p.Val429Leu)
c.1099G>C (p.Val367Leu)
c.1018G>C (p.Val340Leu)
c.724G>C (p.Val242Leu)
c.1105G>C (p.Val369Leu)
2g.48688437C>TCA1653041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1360G>A (p.Val454Ile)
c.948-298G>A (n.948-298G>A)
c.3441+16757C>T (n.3441+16757C>T)
c.*104G>A (n.*104G>A)
c.1279G>A (p.Val427Ile)
c.276+16757C>T (n.276+16757C>T)
c.*220+5787G>A (n.*220+5787G>A)
c.403G>A (p.Val135Ile)
c.430G>A (p.Val144Ile)
c.1285G>A (p.Val429Ile)
c.1099G>A (p.Val367Ile)
c.1018G>A (p.Val340Ile)
c.724G>A (p.Val242Ile)
c.1105G>A (p.Val369Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688438A>CCA426125350GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>G (p.Ser453=)
c.948-299T>G (n.948-299T>G)
c.3441+16758A>C (n.3441+16758A>C)
c.*103T>G (n.*103T>G)
c.1278T>G (p.Ser426=)
c.276+16758A>C (n.276+16758A>C)
c.*220+5786T>G (n.*220+5786T>G)
c.402T>G (p.Ser134=)
c.429T>G (p.Ser143=)
c.1284T>G (p.Ser428=)
c.1098T>G (p.Ser366=)
c.1017T>G (p.Ser339=)
c.723T>G (p.Ser241=)
c.1104T>G (p.Ser368=)
2g.48688438A>GCA426125353GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>C (p.Ser453=)
c.948-299T>C (n.948-299T>C)
c.3441+16758A>G (n.3441+16758A>G)
c.*103T>C (n.*103T>C)
c.1278T>C (p.Ser426=)
c.276+16758A>G (n.276+16758A>G)
c.*220+5786T>C (n.*220+5786T>C)
c.402T>C (p.Ser134=)
c.429T>C (p.Ser143=)
c.1284T>C (p.Ser428=)
c.1098T>C (p.Ser366=)
c.1017T>C (p.Ser339=)
c.723T>C (p.Ser241=)
c.1104T>C (p.Ser368=)
2g.48688438A>TCA426125355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1359T>A (p.Ser453=)
c.948-299T>A (n.948-299T>A)
c.3441+16758A>T (n.3441+16758A>T)
c.*103T>A (n.*103T>A)
c.1278T>A (p.Ser426=)
c.276+16758A>T (n.276+16758A>T)
c.*220+5786T>A (n.*220+5786T>A)
c.402T>A (p.Ser134=)
c.429T>A (p.Ser143=)
c.1284T>A (p.Ser428=)
c.1098T>A (p.Ser366=)
c.1017T>A (p.Ser339=)
c.723T>A (p.Ser241=)
c.1104T>A (p.Ser368=)
2g.48688439G>ACA346747274GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>T (p.Ser453Phe)
c.948-300C>T (n.948-300C>T)
c.3441+16759G>A (n.3441+16759G>A)
c.*102C>T (n.*102C>T)
c.1277C>T (p.Ser426Phe)
c.276+16759G>A (n.276+16759G>A)
c.*220+5785C>T (n.*220+5785C>T)
c.401C>T (p.Ser134Phe)
c.428C>T (p.Ser143Phe)
c.1283C>T (p.Ser428Phe)
c.1097C>T (p.Ser366Phe)
c.1016C>T (p.Ser339Phe)
c.722C>T (p.Ser241Phe)
c.1103C>T (p.Ser368Phe)
2g.48688439G>CCA346747276GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>G (p.Ser453Cys)
c.948-300C>G (n.948-300C>G)
c.3441+16759G>C (n.3441+16759G>C)
c.*102C>G (n.*102C>G)
c.1277C>G (p.Ser426Cys)
c.276+16759G>C (n.276+16759G>C)
c.*220+5785C>G (n.*220+5785C>G)
c.401C>G (p.Ser134Cys)
c.428C>G (p.Ser143Cys)
c.1283C>G (p.Ser428Cys)
c.1097C>G (p.Ser366Cys)
c.1016C>G (p.Ser339Cys)
c.722C>G (p.Ser241Cys)
c.1103C>G (p.Ser368Cys)
2g.48688439G>TCA346747278GTF2A1L,LHCGR,STON1-GTF2A1Lc.1358C>A (p.Ser453Tyr)
c.948-300C>A (n.948-300C>A)
c.3441+16759G>T (n.3441+16759G>T)
c.*102C>A (n.*102C>A)
c.1277C>A (p.Ser426Tyr)
c.276+16759G>T (n.276+16759G>T)
c.*220+5785C>A (n.*220+5785C>A)
c.401C>A (p.Ser134Tyr)
c.428C>A (p.Ser143Tyr)
c.1283C>A (p.Ser428Tyr)
c.1097C>A (p.Ser366Tyr)
c.1016C>A (p.Ser339Tyr)
c.722C>A (p.Ser241Tyr)
c.1103C>A (p.Ser368Tyr)
2g.48688440A=CA1248601134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T= (p.Ser453=)
c.948-301T= (n.948-301T=)
c.3441+16760A= (n.3441+16760A=)
c.*101T= (n.*101T=)
c.1276T= (p.Ser426=)
c.276+16760A= (n.276+16760A=)
c.*220+5784T= (n.*220+5784T=)
c.400T= (p.Ser134=)
c.427T= (p.Ser143=)
c.1282T= (p.Ser428=)
c.1096T= (p.Ser366=)
c.1015T= (p.Ser339=)
c.721T= (p.Ser241=)
c.1102T= (p.Ser368=)
2g.48688440A>CCA346747281GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>G (p.Ser453Ala)
c.948-301T>G (n.948-301T>G)
c.3441+16760A>C (n.3441+16760A>C)
c.*101T>G (n.*101T>G)
c.1276T>G (p.Ser426Ala)
c.276+16760A>C (n.276+16760A>C)
c.*220+5784T>G (n.*220+5784T>G)
c.400T>G (p.Ser134Ala)
c.427T>G (p.Ser143Ala)
c.1282T>G (p.Ser428Ala)
c.1096T>G (p.Ser366Ala)
c.1015T>G (p.Ser339Ala)
c.721T>G (p.Ser241Ala)
c.1102T>G (p.Ser368Ala)
dbSNP
2g.48688440A>GCA346747283GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>C (p.Ser453Pro)
c.948-301T>C (n.948-301T>C)
c.3441+16760A>G (n.3441+16760A>G)
c.*101T>C (n.*101T>C)
c.1276T>C (p.Ser426Pro)
c.276+16760A>G (n.276+16760A>G)
c.*220+5784T>C (n.*220+5784T>C)
c.400T>C (p.Ser134Pro)
c.427T>C (p.Ser143Pro)
c.1282T>C (p.Ser428Pro)
c.1096T>C (p.Ser366Pro)
c.1015T>C (p.Ser339Pro)
c.721T>C (p.Ser241Pro)
c.1102T>C (p.Ser368Pro)
2g.48688440A>TCA346747285GTF2A1L,LHCGR,STON1-GTF2A1Lc.1357T>A (p.Ser453Thr)
c.948-301T>A (n.948-301T>A)
c.3441+16760A>T (n.3441+16760A>T)
c.*101T>A (n.*101T>A)
c.1276T>A (p.Ser426Thr)
c.276+16760A>T (n.276+16760A>T)
c.*220+5784T>A (n.*220+5784T>A)
c.400T>A (p.Ser134Thr)
c.427T>A (p.Ser143Thr)
c.1282T>A (p.Ser428Thr)
c.1096T>A (p.Ser366Thr)
c.1015T>A (p.Ser339Thr)
c.721T>A (p.Ser241Thr)
c.1102T>A (p.Ser368Thr)
2g.48688441A>CCA426125359GTF2A1L,LHCGR,STON1-GTF2A1Lc.1356T>G (p.Leu452=)
c.948-302T>G (n.948-302T>G)
c.3441+16761A>C (n.3441+16761A>C)
c.*100T>G (n.*100T>G)
c.1275T>G (p.Leu425=)
c.276+16761A>C (n.276+16761A>C)
c.*220+5783T>G (n.*220+5783T>G)
c.399T>G (p.Leu133=)
c.426T>G (p.Leu142=)
c.1281T>G (p.Leu427=)
c.1095T>G (p.Leu365=)
c.1014T>G (p.Leu338=)
c.720T>G (p.Leu240=)
c.1101T>G (p.Leu367=)
2g.48688441A>GCA426125360GTF2A1L,LHCGR,STON1-GTF2A1Lc.1356T>C (p.Leu452=)
c.948-302T>C (n.948-302T>C)
c.3441+16761A>G (n.3441+16761A>G)
c.*100T>C (n.*100T>C)
c.1275T>C (p.Leu425=)
c.276+16761A>G (n.276+16761A>G)
c.*220+5783T>C (n.*220+5783T>C)
c.399T>C (p.Leu133=)
c.426T>C (p.Leu142=)
c.1281T>C (p.Leu427=)
c.1095T>C (p.Leu365=)
c.1014T>C (p.Leu338=)
c.720T>C (p.Leu240=)
c.1101T>C (p.Leu367=)

Number of alleles fetched