WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.48688441A>T | CA426125361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1356T>A (p.Leu452=) c.948-302T>A (n.948-302T>A) c.3441+16761A>T (n.3441+16761A>T) c.*100T>A (n.*100T>A) c.1275T>A (p.Leu425=) c.276+16761A>T (n.276+16761A>T) c.*220+5783T>A (n.*220+5783T>A) c.399T>A (p.Leu133=) c.426T>A (p.Leu142=) c.1281T>A (p.Leu427=) c.1095T>A (p.Leu365=) c.1014T>A (p.Leu338=) c.720T>A (p.Leu240=) c.1101T>A (p.Leu367=) | |
| 2 | g.48688442A>C | CA346747292 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1355T>G (p.Leu452Arg) c.948-303T>G (n.948-303T>G) c.3441+16762A>C (n.3441+16762A>C) c.*99T>G (n.*99T>G) c.1274T>G (p.Leu425Arg) c.276+16762A>C (n.276+16762A>C) c.*220+5782T>G (n.*220+5782T>G) c.398T>G (p.Leu133Arg) c.425T>G (p.Leu142Arg) c.1280T>G (p.Leu427Arg) c.1094T>G (p.Leu365Arg) c.1013T>G (p.Leu338Arg) c.719T>G (p.Leu240Arg) c.1100T>G (p.Leu367Arg) | |
| 2 | g.48688442A>G | CA346747290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1355T>C (p.Leu452Pro) c.948-303T>C (n.948-303T>C) c.3441+16762A>G (n.3441+16762A>G) c.*99T>C (n.*99T>C) c.1274T>C (p.Leu425Pro) c.276+16762A>G (n.276+16762A>G) c.*220+5782T>C (n.*220+5782T>C) c.398T>C (p.Leu133Pro) c.425T>C (p.Leu142Pro) c.1280T>C (p.Leu427Pro) c.1094T>C (p.Leu365Pro) c.1013T>C (p.Leu338Pro) c.719T>C (p.Leu240Pro) c.1100T>C (p.Leu367Pro) | |
| 2 | g.48688442A>T | CA346747287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1355T>A (p.Leu452His) c.948-303T>A (n.948-303T>A) c.3441+16762A>T (n.3441+16762A>T) c.*99T>A (n.*99T>A) c.1274T>A (p.Leu425His) c.276+16762A>T (n.276+16762A>T) c.*220+5782T>A (n.*220+5782T>A) c.398T>A (p.Leu133His) c.425T>A (p.Leu142His) c.1280T>A (p.Leu427His) c.1094T>A (p.Leu365His) c.1013T>A (p.Leu338His) c.719T>A (p.Leu240His) c.1100T>A (p.Leu367His) | |
| 2 | g.48688443G>A | CA346747295 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1354C>T (p.Leu452Phe) c.948-304C>T (n.948-304C>T) c.3441+16763G>A (n.3441+16763G>A) c.*98C>T (n.*98C>T) c.1273C>T (p.Leu425Phe) c.276+16763G>A (n.276+16763G>A) c.*220+5781C>T (n.*220+5781C>T) c.397C>T (p.Leu133Phe) c.424C>T (p.Leu142Phe) c.1279C>T (p.Leu427Phe) c.1093C>T (p.Leu365Phe) c.1012C>T (p.Leu338Phe) c.718C>T (p.Leu240Phe) c.1099C>T (p.Leu367Phe) | |
| 2 | g.48688443G>C | CA346747301 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1354C>G (p.Leu452Val) c.948-304C>G (n.948-304C>G) c.3441+16763G>C (n.3441+16763G>C) c.*98C>G (n.*98C>G) c.1273C>G (p.Leu425Val) c.276+16763G>C (n.276+16763G>C) c.*220+5781C>G (n.*220+5781C>G) c.397C>G (p.Leu133Val) c.424C>G (p.Leu142Val) c.1279C>G (p.Leu427Val) c.1093C>G (p.Leu365Val) c.1012C>G (p.Leu338Val) c.718C>G (p.Leu240Val) c.1099C>G (p.Leu367Val) | |
| 2 | g.48688443G>T | CA346747302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1354C>A (p.Leu452Ile) c.948-304C>A (n.948-304C>A) c.3441+16763G>T (n.3441+16763G>T) c.*98C>A (n.*98C>A) c.1273C>A (p.Leu425Ile) c.276+16763G>T (n.276+16763G>T) c.*220+5781C>A (n.*220+5781C>A) c.397C>A (p.Leu133Ile) c.424C>A (p.Leu142Ile) c.1279C>A (p.Leu427Ile) c.1093C>A (p.Leu365Ile) c.1012C>A (p.Leu338Ile) c.718C>A (p.Leu240Ile) c.1099C>A (p.Leu367Ile) | |
| 2 | g.48688444T>A | CA346747305 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1353A>T (p.Glu451Asp) c.948-305A>T (n.948-305A>T) c.3441+16764T>A (n.3441+16764T>A) c.*97A>T (n.*97A>T) c.1272A>T (p.Glu424Asp) c.276+16764T>A (n.276+16764T>A) c.*220+5780A>T (n.*220+5780A>T) c.396A>T (p.Glu132Asp) c.423A>T (p.Glu141Asp) c.1278A>T (p.Glu426Asp) c.1092A>T (p.Glu364Asp) c.1011A>T (p.Glu337Asp) c.717A>T (p.Glu239Asp) c.1098A>T (p.Glu366Asp) | |
| 2 | g.48688444T>C | CA426125368 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1353A>G (p.Glu451=) c.948-305A>G (n.948-305A>G) c.3441+16764T>C (n.3441+16764T>C) c.*97A>G (n.*97A>G) c.1272A>G (p.Glu424=) c.276+16764T>C (n.276+16764T>C) c.*220+5780A>G (n.*220+5780A>G) c.396A>G (p.Glu132=) c.423A>G (p.Glu141=) c.1278A>G (p.Glu426=) c.1092A>G (p.Glu364=) c.1011A>G (p.Glu337=) c.717A>G (p.Glu239=) c.1098A>G (p.Glu366=) | dbSNP gnomAD v4 |
| 2 | g.48688444T>G | CA346747307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1353A>C (p.Glu451Asp) c.948-305A>C (n.948-305A>C) c.3441+16764T>G (n.3441+16764T>G) c.*97A>C (n.*97A>C) c.1272A>C (p.Glu424Asp) c.276+16764T>G (n.276+16764T>G) c.*220+5780A>C (n.*220+5780A>C) c.396A>C (p.Glu132Asp) c.423A>C (p.Glu141Asp) c.1278A>C (p.Glu426Asp) c.1092A>C (p.Glu364Asp) c.1011A>C (p.Glu337Asp) c.717A>C (p.Glu239Asp) c.1098A>C (p.Glu366Asp) | |
| 2 | g.48688444T= | CA1248601135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1353A= (p.Glu451=) c.948-305A= (n.948-305A=) c.3441+16764T= (n.3441+16764T=) c.*97A= (n.*97A=) c.1272A= (p.Glu424=) c.276+16764T= (n.276+16764T=) c.*220+5780A= (n.*220+5780A=) c.396A= (p.Glu132=) c.423A= (p.Glu141=) c.1278A= (p.Glu426=) c.1092A= (p.Glu364=) c.1011A= (p.Glu337=) c.717A= (p.Glu239=) c.1098A= (p.Glu366=) | |
| 2 | g.48688445T>A | CA346747310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1352A>T (p.Glu451Val) c.948-306A>T (n.948-306A>T) c.3441+16765T>A (n.3441+16765T>A) c.*96A>T (n.*96A>T) c.1271A>T (p.Glu424Val) c.276+16765T>A (n.276+16765T>A) c.*220+5779A>T (n.*220+5779A>T) c.395A>T (p.Glu132Val) c.422A>T (p.Glu141Val) c.1277A>T (p.Glu426Val) c.1091A>T (p.Glu364Val) c.1010A>T (p.Glu337Val) c.716A>T (p.Glu239Val) c.1097A>T (p.Glu366Val) | |
| 2 | g.48688445T>C | CA346747312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1352A>G (p.Glu451Gly) c.948-306A>G (n.948-306A>G) c.3441+16765T>C (n.3441+16765T>C) c.*96A>G (n.*96A>G) c.1271A>G (p.Glu424Gly) c.276+16765T>C (n.276+16765T>C) c.*220+5779A>G (n.*220+5779A>G) c.395A>G (p.Glu132Gly) c.422A>G (p.Glu141Gly) c.1277A>G (p.Glu426Gly) c.1091A>G (p.Glu364Gly) c.1010A>G (p.Glu337Gly) c.716A>G (p.Glu239Gly) c.1097A>G (p.Glu366Gly) | |
| 2 | g.48688445T>G | CA346747318 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1352A>C (p.Glu451Ala) c.948-306A>C (n.948-306A>C) c.3441+16765T>G (n.3441+16765T>G) c.*96A>C (n.*96A>C) c.1271A>C (p.Glu424Ala) c.276+16765T>G (n.276+16765T>G) c.*220+5779A>C (n.*220+5779A>C) c.395A>C (p.Glu132Ala) c.422A>C (p.Glu141Ala) c.1277A>C (p.Glu426Ala) c.1091A>C (p.Glu364Ala) c.1010A>C (p.Glu337Ala) c.716A>C (p.Glu239Ala) c.1097A>C (p.Glu366Ala) | |
| 2 | g.48688446C>A | CA346747320 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1351G>T (p.Glu451Ter) c.948-307G>T (n.948-307G>T) c.3441+16766C>A (n.3441+16766C>A) c.*95G>T (n.*95G>T) c.1270G>T (p.Glu424Ter) c.276+16766C>A (n.276+16766C>A) c.*220+5778G>T (n.*220+5778G>T) c.394G>T (p.Glu132Ter) c.421G>T (p.Glu141Ter) c.1276G>T (p.Glu426Ter) c.1090G>T (p.Glu364Ter) c.1009G>T (p.Glu337Ter) c.715G>T (p.Glu239Ter) c.1096G>T (p.Glu366Ter) | dbSNP gnomAD v4 |
| 2 | g.48688446C= | CA1248601136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1351G= (p.Glu451=) c.948-307G= (n.948-307G=) c.3441+16766C= (n.3441+16766C=) c.*95G= (n.*95G=) c.1270G= (p.Glu424=) c.276+16766C= (n.276+16766C=) c.*220+5778G= (n.*220+5778G=) c.394G= (p.Glu132=) c.421G= (p.Glu141=) c.1276G= (p.Glu426=) c.1090G= (p.Glu364=) c.1009G= (p.Glu337=) c.715G= (p.Glu239=) c.1096G= (p.Glu366=) | |
| 2 | g.48688446C>G | CA346747321 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1351G>C (p.Glu451Gln) c.948-307G>C (n.948-307G>C) c.3441+16766C>G (n.3441+16766C>G) c.*95G>C (n.*95G>C) c.1270G>C (p.Glu424Gln) c.276+16766C>G (n.276+16766C>G) c.*220+5778G>C (n.*220+5778G>C) c.394G>C (p.Glu132Gln) c.421G>C (p.Glu141Gln) c.1276G>C (p.Glu426Gln) c.1090G>C (p.Glu364Gln) c.1009G>C (p.Glu337Gln) c.715G>C (p.Glu239Gln) c.1096G>C (p.Glu366Gln) | |
| 2 | g.48688446C>T | CA346747323 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1351G>A (p.Glu451Lys) c.948-307G>A (n.948-307G>A) c.3441+16766C>T (n.3441+16766C>T) c.*95G>A (n.*95G>A) c.1270G>A (p.Glu424Lys) c.276+16766C>T (n.276+16766C>T) c.*220+5778G>A (n.*220+5778G>A) c.394G>A (p.Glu132Lys) c.421G>A (p.Glu141Lys) c.1276G>A (p.Glu426Lys) c.1090G>A (p.Glu364Lys) c.1009G>A (p.Glu337Lys) c.715G>A (p.Glu239Lys) c.1096G>A (p.Glu366Lys) | COSMIC |
| 2 | g.48688447A>C | CA346747326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1350T>G (p.Ser450Arg) c.948-308T>G (n.948-308T>G) c.3441+16767A>C (n.3441+16767A>C) c.*94T>G (n.*94T>G) c.1269T>G (p.Ser423Arg) c.276+16767A>C (n.276+16767A>C) c.*220+5777T>G (n.*220+5777T>G) c.393T>G (p.Ser131Arg) c.420T>G (p.Ser140Arg) c.1275T>G (p.Ser425Arg) c.1089T>G (p.Ser363Arg) c.1008T>G (p.Ser336Arg) c.714T>G (p.Ser238Arg) c.1095T>G (p.Ser365Arg) | |
| 2 | g.48688447A>G | CA426125376 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1350T>C (p.Ser450=) c.948-308T>C (n.948-308T>C) c.3441+16767A>G (n.3441+16767A>G) c.*94T>C (n.*94T>C) c.1269T>C (p.Ser423=) c.276+16767A>G (n.276+16767A>G) c.*220+5777T>C (n.*220+5777T>C) c.393T>C (p.Ser131=) c.420T>C (p.Ser140=) c.1275T>C (p.Ser425=) c.1089T>C (p.Ser363=) c.1008T>C (p.Ser336=) c.714T>C (p.Ser238=) c.1095T>C (p.Ser365=) |