Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688427A= | CA1248601129 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688427A>C | CA123934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688427A>G | CA346747219 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688427A>T | CA346747216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688428G>A | CA346747221 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688428G>C | CA346747224 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688428G>T | CA346747225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688429G>A | CA426125297 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688429G>C | CA426125302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688429G>T | CA426125294 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688430G>A | CA346747229 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688430G>C | CA1653040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688430G= | CA1248601130 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688430G>T | CA346747235 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688431T>A | CA346747238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688431T>C | CA346747239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688431T>G | CA346747242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688432G>A | CA426125308 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688432G>C | CA346747246 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688432G>T | CA346747249 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688433T>A | CA346747252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688433T>C | CA346747253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688433T>G | CA346747255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688434A>C | CA346747260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688434A>G | CA346747261 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688434A>T | CA346747257 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688435G>A | CA426125332 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688435G>C | CA426125333 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688435G= | CA1248601131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688435G>T | CA426125336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688436A= | CA1248601132 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688436A>C | CA346747264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688436A>G | CA46753007 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688436A>T | CA346747267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688437C>A | CA346747269 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688437C= | CA1248601133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688437C>G | CA346747271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688437C>T | CA1653041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688438A>C | CA426125350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688438A>G | CA426125353 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688438A>T | CA426125355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688439G>A | CA346747274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688439G>C | CA346747276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688439G>T | CA346747278 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688440A= | CA1248601134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688440A>C | CA346747281 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48688440A>G | CA346747283 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688440A>T | CA346747285 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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) | |
2 | g.48688441A>C | CA426125359 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) | |
2 | g.48688441A>G | CA426125360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.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=) |