| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114674666_114674677dup | CA2621130030 | TBX3 | c.1200_1211dup (p.Arg403_Asp404insGluArgProArg) c.1260_1271dup (p.Arg423_Asp424insGluArgProArg) | gnomAD v4 |
| 12 | g.114674674G>A | CA244143901 | TBX3 | c.1201C>T (p.Arg401Trp) c.1261C>T (p.Arg421Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674674G>C | CA386869402 | TBX3 | c.1201C>G (p.Arg401Gly) c.1261C>G (p.Arg421Gly) | |
| 12 | g.114674674G= | CA2064766587 | TBX3 | c.1201C= (p.Arg401=) c.1261C= (p.Arg421=) | |
| 12 | g.114674674G>T | CA482136152 | TBX3 | c.1201C>A (p.Arg401=) c.1261C>A (p.Arg421=) | gnomAD v4 |
| 12 | g.114674675C>A | CA386869403 | TBX3 | c.1200G>T (p.Glu400Asp) c.1260G>T (p.Glu420Asp) | gnomAD v4 |
| 12 | g.114674675C= | CA2064766589 | TBX3 | c.1200G= (p.Glu400=) c.1260G= (p.Glu420=) | |
| 12 | g.114674675C>G | CA6809972 | TBX3 | c.1200G>C (p.Glu400Asp) c.1260G>C (p.Glu420Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674675C>T | CA482136155 | TBX3 | c.1200G>A (p.Glu400=) c.1260G>A (p.Glu420=) | dbSNP gnomAD v2 |
| 12 | g.114674676T>A | CA386869404 | TBX3 | c.1199A>T (p.Glu400Val) c.1259A>T (p.Glu420Val) | dbSNP gnomAD v4 |
| 12 | g.114674676T>C | CA386869405 | TBX3 | c.1199A>G (p.Glu400Gly) c.1259A>G (p.Glu420Gly) | |
| 12 | g.114674676T>G | CA386869406 | TBX3 | c.1199A>C (p.Glu400Ala) c.1259A>C (p.Glu420Ala) | gnomAD v4 |
| 12 | g.114674677C>A | CA386869407 | TBX3 | c.1198G>T (p.Glu400Ter) c.1258G>T (p.Glu420Ter) | COSMIC |
| 12 | g.114674677C>G | CA386869408 | TBX3 | c.1198G>C (p.Glu400Gln) c.1258G>C (p.Glu420Gln) | gnomAD v4 |
| 12 | g.114674677C>T | CA386869409 | TBX3 | c.1198G>A (p.Glu400Lys) c.1258G>A (p.Glu420Lys) | |
| 12 | g.114674678A>C | CA482136159 | TBX3 | c.1197T>G (p.Ala399=) c.1257T>G (p.Ala419=) | |
| 12 | g.114674678A>G | CA482136160 | TBX3 | c.1197T>C (p.Ala399=) c.1257T>C (p.Ala419=) | |
| 12 | g.114674678A>T | CA482136161 | TBX3 | c.1197T>A (p.Ala399=) c.1257T>A (p.Ala419=) | |
| 12 | g.114674679G>A | CA386869412 | TBX3 | c.1196C>T (p.Ala399Val) c.1256C>T (p.Ala419Val) | dbSNP |
| 12 | g.114674679G>C | CA386869411 | TBX3 | c.1196C>G (p.Ala399Gly) c.1256C>G (p.Ala419Gly) | |
| 12 | g.114674679G= | CA2064766591 | TBX3 | c.1196C= (p.Ala399=) c.1256C= (p.Ala419=) | |
| 12 | g.114674679G>T | CA386869410 | TBX3 | c.1196C>A (p.Ala399Asp) c.1256C>A (p.Ala419Asp) | gnomAD v4 |
| 12 | g.114674680C>A | CA386869413 | TBX3 | c.1195G>T (p.Ala399Ser) c.1255G>T (p.Ala419Ser) | COSMIC |
| 12 | g.114674680C= | CA2064766593 | TBX3 | c.1195G= (p.Ala399=) c.1255G= (p.Ala419=) | |
| 12 | g.114674680C>G | CA386869414 | TBX3 | c.1195G>C (p.Ala399Pro) c.1255G>C (p.Ala419Pro) | |
| 12 | g.114674680C>T | CA6809973 | TBX3 | c.1195G>A (p.Ala399Thr) c.1255G>A (p.Ala419Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674681A= | CA2064766597 | TBX3 | c.1194T= (p.Ala398=) c.1254T= (p.Ala418=) | |
| 12 | g.114674681A>C | CA482136165 | TBX3 | c.1194T>G (p.Ala398=) c.1254T>G (p.Ala418=) | gnomAD v4 |
| 12 | g.114674681A>G | CA482136167 | TBX3 | c.1194T>C (p.Ala398=) c.1254T>C (p.Ala418=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674681A>T | CA482136166 | TBX3 | c.1194T>A (p.Ala398=) c.1254T>A (p.Ala418=) | dbSNP |
| 12 | g.114674682G>A | CA386869415 | TBX3 | c.1193C>T (p.Ala398Val) c.1253C>T (p.Ala418Val) | dbSNP |
| 12 | g.114674682G>C | CA386869417 | TBX3 | c.1193C>G (p.Ala398Gly) c.1253C>G (p.Ala418Gly) | |
| 12 | g.114674682G>T | CA386869416 | TBX3 | c.1193C>A (p.Ala398Asp) c.1253C>A (p.Ala418Asp) | gnomAD v4 |
| 12 | g.114674683C>A | CA386869418 | TBX3 | c.1192G>T (p.Ala398Ser) c.1252G>T (p.Ala418Ser) | gnomAD v4 |
| 12 | g.114674683C= | CA2064766600 | TBX3 | c.1192G= (p.Ala398=) c.1252G= (p.Ala418=) | |
| 12 | g.114674683C>G | CA386869419 | TBX3 | c.1192G>C (p.Ala398Pro) c.1252G>C (p.Ala418Pro) | |
| 12 | g.114674683C>T | CA244143904 | TBX3 | c.1192G>A (p.Ala398Thr) c.1252G>A (p.Ala418Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674684G>A | CA482136171 | TBX3 | c.1191C>T (p.Phe397=) c.1251C>T (p.Phe417=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674684G>C | CA386869420 | TBX3 | c.1191C>G (p.Phe397Leu) c.1251C>G (p.Phe417Leu) | |
| 12 | g.114674684G= | CA2064766603 | TBX3 | c.1191C= (p.Phe397=) c.1251C= (p.Phe417=) | |
| 12 | g.114674684G>T | CA386869421 | TBX3 | c.1191C>A (p.Phe397Leu) c.1251C>A (p.Phe417Leu) | gnomAD v4 |
| 12 | g.114674684_114674685delinsGA | CA2064766604 | TBX3 | c.1190_1191delinsTC (p.Phe397=) c.1250_1251delinsTC (p.Phe417=) | |
| 12 | g.114674685A= | CA2064766612 | TBX3 | c.1190T= (p.Phe397=) c.1250T= (p.Phe417=) | |
| 12 | g.114674685A>C | CA386869422 | TBX3 | c.1190T>G (p.Phe397Cys) c.1250T>G (p.Phe417Cys) | |
| 12 | g.114674685A>G | CA386869423 | TBX3 | c.1190T>C (p.Phe397Ser) c.1250T>C (p.Phe417Ser) | ClinVar |
| 12 | g.114674685A>T | CA6809974 | TBX3 | c.1190T>A (p.Phe397Tyr) c.1250T>A (p.Phe417Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674688dup | CA645577358 | TBX3 | c.1190dup (p.Ala398ArgfsTer3) c.1250dup (p.Ala418ArgfsTer3) | COSMIC COSMIC |
| 12 | g.114674688del | CA1139662912 | TBX3 | c.1190del (p.Phe397SerfsTer?) c.1250del (p.Phe417SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.114674686A>C | CA386869424 | TBX3 | c.1189T>G (p.Phe397Val) c.1249T>G (p.Phe417Val) | gnomAD v4 |
| 12 | g.114674686A>G | CA386869425 | TBX3 | c.1189T>C (p.Phe397Leu) c.1249T>C (p.Phe417Leu) | |
| 12 | g.114674686A>T | CA386869426 | TBX3 | c.1189T>A (p.Phe397Ile) c.1249T>A (p.Phe417Ile) | |
| 12 | g.114674687A>C | CA482136175 | TBX3 | c.1188T>G (p.Leu396=) c.1248T>G (p.Leu416=) | |
| 12 | g.114674687A>G | CA482136176 | TBX3 | c.1188T>C (p.Leu396=) c.1248T>C (p.Leu416=) | |
| 12 | g.114674687A>T | CA482136177 | TBX3 | c.1188T>A (p.Leu396=) c.1248T>A (p.Leu416=) | |
| 12 | g.114674688A= | CA2064766614 | TBX3 | c.1187T= (p.Leu396=) c.1247T= (p.Leu416=) | |
| 12 | g.114674688A>C | CA386869429 | TBX3 | c.1187T>G (p.Leu396Arg) c.1247T>G (p.Leu416Arg) | |
| 12 | g.114674688A>G | CA386869428 | TBX3 | c.1187T>C (p.Leu396Pro) c.1247T>C (p.Leu416Pro) | dbSNP gnomAD v4 |
| 12 | g.114674688A>T | CA386869427 | TBX3 | c.1187T>A (p.Leu396His) c.1247T>A (p.Leu416His) | |
| 12 | g.114674689G>A | CA386869430 | TBX3 | c.1186C>T (p.Leu396Phe) c.1246C>T (p.Leu416Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674689G>C | CA386869431 | TBX3 | c.1186C>G (p.Leu396Val) c.1246C>G (p.Leu416Val) | gnomAD v4 |
| 12 | g.114674689G= | CA2064766617 | TBX3 | c.1186C= (p.Leu396=) c.1246C= (p.Leu416=) | |
| 12 | g.114674689G>T | CA386869432 | TBX3 | c.1186C>A (p.Leu396Ile) c.1246C>A (p.Leu416Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674690G>A | CA482136178 | TBX3 | c.1185C>T (p.His395=) c.1245C>T (p.His415=) | |
| 12 | g.114674690G>C | CA386869433 | TBX3 | c.1185C>G (p.His395Gln) c.1245C>G (p.His415Gln) | |
| 12 | g.114674690G>T | CA386869434 | TBX3 | c.1185C>A (p.His395Gln) c.1245C>A (p.His415Gln) | gnomAD v4 |
| 12 | g.114674691T>A | CA386869435 | TBX3 | c.1184A>T (p.His395Leu) c.1244A>T (p.His415Leu) | dbSNP |
| 12 | g.114674691T>C | CA386869436 | TBX3 | c.1184A>G (p.His395Arg) c.1244A>G (p.His415Arg) | |
| 12 | g.114674691T>G | CA244143906 | TBX3 | c.1184A>C (p.His395Pro) c.1244A>C (p.His415Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674691T= | CA2064766621 | TBX3 | c.1184A= (p.His395=) c.1244A= (p.His415=) | |
| 12 | g.114674692G>A | CA386869437 | TBX3 | c.1183C>T (p.His395Tyr) c.1243C>T (p.His415Tyr) | dbSNP |
| 12 | g.114674692G>C | CA386869438 | TBX3 | c.1183C>G (p.His395Asp) c.1243C>G (p.His415Asp) | |
| 12 | g.114674692G>T | CA386869439 | TBX3 | c.1183C>A (p.His395Asn) c.1243C>A (p.His415Asn) | gnomAD v4 |
| 12 | g.114674693A>C | CA482136180 | TBX3 | c.1182T>G (p.Ala394=) c.1242T>G (p.Ala414=) | |
| 12 | g.114674693A>G | CA482136181 | TBX3 | c.1182T>C (p.Ala394=) c.1242T>C (p.Ala414=) | |
| 12 | g.114674693A>T | CA482136182 | TBX3 | c.1182T>A (p.Ala394=) c.1242T>A (p.Ala414=) | |
| 12 | g.114674694G>A | CA386869442 | TBX3 | c.1181C>T (p.Ala394Val) c.1241C>T (p.Ala414Val) | dbSNP |
| 12 | g.114674694G>C | CA386869441 | TBX3 | c.1181C>G (p.Ala394Gly) c.1241C>G (p.Ala414Gly) | |
| 12 | g.114674694G>T | CA386869440 | TBX3 | c.1181C>A (p.Ala394Asp) c.1241C>A (p.Ala414Asp) | gnomAD v4 |
| 12 | g.114674695C>A | CA386869443 | TBX3 | c.1180G>T (p.Ala394Ser) c.1240G>T (p.Ala414Ser) | gnomAD v4 |
| 12 | g.114674695C= | CA2064766622 | TBX3 | c.1180G= (p.Ala394=) c.1240G= (p.Ala414=) | |
| 12 | g.114674695C>G | CA386869444 | TBX3 | c.1180G>C (p.Ala394Pro) c.1240G>C (p.Ala414Pro) | gnomAD v4 |
| 12 | g.114674695C>T | CA386869445 | TBX3 | c.1180G>A (p.Ala394Thr) c.1240G>A (p.Ala414Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674696C>A | CA386869446 | TBX3 | c.1179G>T (p.Lys393Asn) c.1239G>T (p.Lys413Asn) | gnomAD v4 |
| 12 | g.114674696C>G | CA386869447 | TBX3 | c.1179G>C (p.Lys393Asn) c.1239G>C (p.Lys413Asn) | |
| 12 | g.114674696C>T | CA482136186 | TBX3 | c.1179G>A (p.Lys393=) c.1239G>A (p.Lys413=) | |
| 12 | g.114674697T>A | CA386869448 | TBX3 | c.1178A>T (p.Lys393Met) c.1238A>T (p.Lys413Met) | |
| 12 | g.114674697T>C | CA386869449 | TBX3 | c.1178A>G (p.Lys393Arg) c.1238A>G (p.Lys413Arg) | |
| 12 | g.114674697T>G | CA386869450 | TBX3 | c.1178A>C (p.Lys393Thr) c.1238A>C (p.Lys413Thr) | |
| 12 | g.114674698T>A | CA386869451 | TBX3 | c.1177A>T (p.Lys393Ter) c.1237A>T (p.Lys413Ter) | |
| 12 | g.114674698T>C | CA386869452 | TBX3 | c.1177A>G (p.Lys393Glu) c.1237A>G (p.Lys413Glu) | gnomAD v4 |
| 12 | g.114674698T>G | CA386869453 | TBX3 | c.1177A>C (p.Lys393Gln) c.1237A>C (p.Lys413Gln) | |
| 12 | g.114674699G>A | CA482136188 | TBX3 | c.1176C>T (p.Val392=) c.1236C>T (p.Val412=) | |
| 12 | g.114674699G>C | CA482136189 | TBX3 | c.1176C>G (p.Val392=) c.1236C>G (p.Val412=) | |
| 12 | g.114674699G= | CA2064766625 | TBX3 | c.1176C= (p.Val392=) c.1236C= (p.Val412=) | |
| 12 | g.114674699G>T | CA6809975 | TBX3 | c.1176C>A (p.Val392=) c.1236C>A (p.Val412=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674700A>C | CA386869456 | TBX3 | c.1175T>G (p.Val392Gly) c.1235T>G (p.Val412Gly) | |
| 12 | g.114674700A>G | CA386869455 | TBX3 | c.1175T>C (p.Val392Ala) c.1235T>C (p.Val412Ala) | COSMIC |
| 12 | g.114674700A>T | CA386869454 | TBX3 | c.1175T>A (p.Val392Asp) c.1235T>A (p.Val412Asp) | dbSNP |
| 12 | g.114674700_114674701delinsAC | CA2064766626 | TBX3 | c.1174_1175delinsGT (p.Val392=) c.1234_1235delinsGT (p.Val412=) | |
| 12 | g.114674701C>A | CA386869457 | TBX3 | c.1174G>T (p.Val392Phe) c.1234G>T (p.Val412Phe) | |
| 12 | g.114674701C= | CA2064766627 | TBX3 | c.1174G= (p.Val392=) c.1234G= (p.Val412=) | |
| 12 | g.114674701C>G | CA386869458 | TBX3 | c.1174G>C (p.Val392Leu) c.1234G>C (p.Val412Leu) | dbSNP gnomAD v2 |
| 12 | g.114674701C>T | CA386869459 | TBX3 | c.1174G>A (p.Val392Ile) c.1234G>A (p.Val412Ile) | COSMIC |
| 12 | g.114674702del | CA2064766628 | TBX3 | c.1174del (p.Val392SerfsTer?) c.1234del (p.Val412SerfsTer?) | dbSNP gnomAD v4 |
| 12 | g.114674702C>A | CA482136197 | TBX3 | c.1173G>T (p.Ala391=) c.1233G>T (p.Ala411=) | gnomAD v4 |
| 12 | g.114674702C= | CA2064766632 | TBX3 | c.1173G= (p.Ala391=) c.1233G= (p.Ala411=) | |
| 12 | g.114674702C>G | CA203301 | TBX3 | c.1173G>C (p.Ala391=) c.1233G>C (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674702C>T | CA482136196 | TBX3 | c.1173G>A (p.Ala391=) c.1233G>A (p.Ala411=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674703G>A | CA6809978 | TBX3 | c.1172C>T (p.Ala391Val) c.1232C>T (p.Ala411Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674703G>C | CA6809977 | TBX3 | c.1172C>G (p.Ala391Gly) c.1232C>G (p.Ala411Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674703G= | CA2064766643 | TBX3 | c.1172C= (p.Ala391=) c.1232C= (p.Ala411=) | |
| 12 | g.114674703G>T | CA6809976 | TBX3 | c.1172C>A (p.Ala391Glu) c.1232C>A (p.Ala411Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674704C>A | CA386869460 | TBX3 | c.1171G>T (p.Ala391Ser) c.1231G>T (p.Ala411Ser) | dbSNP |
| 12 | g.114674704C= | CA2064766654 | TBX3 | c.1171G= (p.Ala391=) c.1231G= (p.Ala411=) | |
| 12 | g.114674704C>G | CA386869461 | TBX3 | c.1171G>C (p.Ala391Pro) c.1231G>C (p.Ala411Pro) | |
| 12 | g.114674704C>T | CA386869462 | TBX3 | c.1171G>A (p.Ala391Thr) c.1231G>A (p.Ala411Thr) | dbSNP gnomAD v4 |
| 12 | g.114674705G>A | CA244143925 | TBX3 | c.1170C>T (p.Pro390=) c.1230C>T (p.Pro410=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674705G>C | CA6809979 | TBX3 | c.1170C>G (p.Pro390=) c.1230C>G (p.Pro410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674705G= | CA2064766657 | TBX3 | c.1170C= (p.Pro390=) c.1230C= (p.Pro410=) | |
| 12 | g.114674705G>T | CA482136200 | TBX3 | c.1170C>A (p.Pro390=) c.1230C>A (p.Pro410=) | dbSNP gnomAD v4 |
| 12 | g.114674708dup | CA2580085846 | TBX3 | c.1170dup (p.Ala391ArgfsTer10) c.1230dup (p.Ala411ArgfsTer10) | ClinVar |
| 12 | g.114674708del | CA2621130033 | TBX3 | c.1170del (p.Ala391ArgfsTer?) c.1230del (p.Ala411ArgfsTer?) | gnomAD v4 |
| 12 | g.114674706G>A | CA386869465 | TBX3 | c.1169C>T (p.Pro390Leu) c.1229C>T (p.Pro410Leu) | COSMIC |
| 12 | g.114674706G>C | CA386869464 | TBX3 | c.1169C>G (p.Pro390Arg) c.1229C>G (p.Pro410Arg) | |
| 12 | g.114674706G>T | CA386869463 | TBX3 | c.1169C>A (p.Pro390His) c.1229C>A (p.Pro410His) | gnomAD v4 |
| 12 | g.114674707G>A | CA386869466 | TBX3 | c.1168C>T (p.Pro390Ser) c.1228C>T (p.Pro410Ser) | dbSNP |
| 12 | g.114674707G>C | CA386869468 | TBX3 | c.1168C>G (p.Pro390Ala) c.1228C>G (p.Pro410Ala) | |
| 12 | g.114674707G= | CA2064766659 | TBX3 | c.1168C= (p.Pro390=) c.1228C= (p.Pro410=) | |
| 12 | g.114674707G>T | CA386869467 | TBX3 | c.1168C>A (p.Pro390Thr) c.1228C>A (p.Pro410Thr) | dbSNP gnomAD v4 |
| 12 | g.114674708G>A | CA482136207 | TBX3 | c.1167C>T (p.Ser389=) c.1227C>T (p.Ser409=) | dbSNP gnomAD v4 |
| 12 | g.114674708G>C | CA386869469 | TBX3 | c.1167C>G (p.Ser389Arg) c.1227C>G (p.Ser409Arg) | |
| 12 | g.114674708G>T | CA386869470 | TBX3 | c.1167C>A (p.Ser389Arg) c.1227C>A (p.Ser409Arg) | gnomAD v4 |
| 12 | g.114674709C>A | CA386869471 | TBX3 | c.1166G>T (p.Ser389Ile) c.1226G>T (p.Ser409Ile) | gnomAD v4 |
| 12 | g.114674709C>G | CA386869472 | TBX3 | c.1166G>C (p.Ser389Thr) c.1226G>C (p.Ser409Thr) | |
| 12 | g.114674709C>T | CA386869473 | TBX3 | c.1166G>A (p.Ser389Asn) c.1226G>A (p.Ser409Asn) | dbSNP gnomAD v4 |
| 12 | g.114674710T>A | CA386869474 | TBX3 | c.1165A>T (p.Ser389Cys) c.1225A>T (p.Ser409Cys) | |
| 12 | g.114674710T>C | CA386869475 | TBX3 | c.1165A>G (p.Ser389Gly) c.1225A>G (p.Ser409Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674710T>G | CA386869476 | TBX3 | c.1165A>C (p.Ser389Arg) c.1225A>C (p.Ser409Arg) | |
| 12 | g.114674710T= | CA2064766660 | TBX3 | c.1165A= (p.Ser389=) c.1225A= (p.Ser409=) | |
| 12 | g.114674711G>A | CA482136208 | TBX3 | c.1164C>T (p.Gly388=) c.1224C>T (p.Gly408=) | dbSNP gnomAD v4 |
| 12 | g.114674711G>C | CA482136209 | TBX3 | c.1164C>G (p.Gly388=) c.1224C>G (p.Gly408=) | |
| 12 | g.114674711G>T | CA482136210 | TBX3 | c.1164C>A (p.Gly388=) c.1224C>A (p.Gly408=) | gnomAD v4 |
| 12 | g.114674712C>A | CA386869477 | TBX3 | c.1163G>T (p.Gly388Val) c.1223G>T (p.Gly408Val) | gnomAD v4 |
| 12 | g.114674712C>G | CA386869478 | TBX3 | c.1163G>C (p.Gly388Ala) c.1223G>C (p.Gly408Ala) | |
| 12 | g.114674712C>T | CA386869479 | TBX3 | c.1163G>A (p.Gly388Asp) c.1223G>A (p.Gly408Asp) | dbSNP gnomAD v4 |
| 12 | g.114674714del | CA2621130035 | TBX3 | c.1163del (p.Gly388AlafsTer?) c.1223del (p.Gly408AlafsTer?) | gnomAD v4 |
| 12 | g.114674713C>A | CA386869482 | TBX3 | c.1162G>T (p.Gly388Cys) c.1222G>T (p.Gly408Cys) | gnomAD v4 |
| 12 | g.114674713C= | CA2064766663 | TBX3 | c.1162G= (p.Gly388=) c.1222G= (p.Gly408=) | |
| 12 | g.114674713C>G | CA386869480 | TBX3 | c.1162G>C (p.Gly388Arg) c.1222G>C (p.Gly408Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674713C>T | CA386869481 | TBX3 | c.1162G>A (p.Gly388Ser) c.1222G>A (p.Gly408Ser) | gnomAD v4 |
| 12 | g.114674714C>A | CA386869483 | TBX3 | c.1161G>T (p.Lys387Asn) c.1221G>T (p.Lys407Asn) | dbSNP gnomAD v4 |
| 12 | g.114674714C= | CA2064766668 | TBX3 | c.1161G= (p.Lys387=) c.1221G= (p.Lys407=) | |
| 12 | g.114674714C>G | CA386869484 | TBX3 | c.1161G>C (p.Lys387Asn) c.1221G>C (p.Lys407Asn) | |
| 12 | g.114674714C>T | CA6809980 | TBX3 | c.1161G>A (p.Lys387=) c.1221G>A (p.Lys407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674715T>A | CA386869485 | TBX3 | c.1160A>T (p.Lys387Met) c.1220A>T (p.Lys407Met) | dbSNP gnomAD v4 |
| 12 | g.114674715T>C | CA386869486 | TBX3 | c.1160A>G (p.Lys387Arg) c.1220A>G (p.Lys407Arg) | |
| 12 | g.114674715T>G | CA386869487 | TBX3 | c.1160A>C (p.Lys387Thr) c.1220A>C (p.Lys407Thr) | |
| 12 | g.114674716T>A | CA386869488 | TBX3 | c.1159A>T (p.Lys387Ter) c.1219A>T (p.Lys407Ter) | |
| 12 | g.114674716T>C | CA386869489 | TBX3 | c.1159A>G (p.Lys387Glu) c.1219A>G (p.Lys407Glu) | gnomAD v4 |
| 12 | g.114674716T>G | CA386869490 | TBX3 | c.1159A>C (p.Lys387Gln) c.1219A>C (p.Lys407Gln) | |
| 12 | g.114674717G>A | CA482136218 | TBX3 | c.1158C>T (p.Asp386=) c.1218C>T (p.Asp406=) | |
| 12 | g.114674717G>C | CA386869491 | TBX3 | c.1158C>G (p.Asp386Glu) c.1218C>G (p.Asp406Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674717G= | CA2064766671 | TBX3 | c.1158C= (p.Asp386=) c.1218C= (p.Asp406=) | |
| 12 | g.114674717G>T | CA386869492 | TBX3 | c.1158C>A (p.Asp386Glu) c.1218C>A (p.Asp406Glu) | gnomAD v4 |
| 12 | g.114674718T>A | CA386869494 | TBX3 | c.1157A>T (p.Asp386Val) c.1217A>T (p.Asp406Val) | |
| 12 | g.114674718T>C | CA386869495 | TBX3 | c.1157A>G (p.Asp386Gly) c.1217A>G (p.Asp406Gly) | |
| 12 | g.114674718T>G | CA386869493 | TBX3 | c.1157A>C (p.Asp386Ala) c.1217A>C (p.Asp406Ala) | |
| 12 | g.114674719C>A | CA386869496 | TBX3 | c.1156G>T (p.Asp386Tyr) c.1216G>T (p.Asp406Tyr) | gnomAD v4 |
| 12 | g.114674719C>G | CA386869497 | TBX3 | c.1156G>C (p.Asp386His) c.1216G>C (p.Asp406His) | |
| 12 | g.114674719C>T | CA386869498 | TBX3 | c.1156G>A (p.Asp386Asn) c.1216G>A (p.Asp406Asn) | gnomAD v4 |
| 12 | g.114674720A= | CA2064766675 | TBX3 | c.1155T= (p.Arg385=) c.1215T= (p.Arg405=) | |
| 12 | g.114674720A>C | CA482136223 | TBX3 | c.1155T>G (p.Arg385=) c.1215T>G (p.Arg405=) | |
| 12 | g.114674720A>G | CA386869499 | TBX3 | c.1155T>C (p.Arg385=) c.1215T>C (p.Arg405=) | dbSNP |
| 12 | g.114674720A>T | CA482136224 | TBX3 | c.1155T>A (p.Arg385=) c.1215T>A (p.Arg405=) | dbSNP gnomAD v4 |
| 12 | g.114674721C>A | CA386869500 | TBX3 | c.1154G>T (p.Arg385Leu) c.1214G>T (p.Arg405Leu) | |
| 12 | g.114674721C= | CA2064766679 | TBX3 | c.1154G= (p.Arg385=) c.1214G= (p.Arg405=) | |
| 12 | g.114674721C>G | CA386869501 | TBX3 | c.1154G>C (p.Arg385Pro) c.1214G>C (p.Arg405Pro) | gnomAD v4 |
| 12 | g.114674721C>T | CA386869502 | TBX3 | c.1154G>A (p.Arg385His) c.1214G>A (p.Arg405His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674722G>A | CA6809981 | TBX3 | c.1153C>T (p.Arg385Cys) c.1213C>T (p.Arg405Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674722G>C | CA6809982 | TBX3 | c.1153C>G (p.Arg385Gly) c.1213C>G (p.Arg405Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674722G= | CA2064766684 | TBX3 | c.1153C= (p.Arg385=) c.1213C= (p.Arg405=) | |
| 12 | g.114674722G>T | CA386869503 | TBX3 | c.1153C>A (p.Arg385Ser) c.1213C>A (p.Arg405Ser) | gnomAD v4 |
| 12 | g.114674723G>A | CA482136234 | TBX3 | c.1152C>T (p.Cys384=) c.1212C>T (p.Cys404=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674723G>C | CA386869504 | TBX3 | c.1152C>G (p.Cys384Trp) c.1212C>G (p.Cys404Trp) | |
| 12 | g.114674723G= | CA2064766697 | TBX3 | c.1152C= (p.Cys384=) c.1212C= (p.Cys404=) | |
| 12 | g.114674723G>T | CA386869505 | TBX3 | c.1152C>A (p.Cys384Ter) c.1212C>A (p.Cys404Ter) | gnomAD v4 |
| 12 | g.114674723_114674737dup | CA2621130036 | TBX3 | c.1138_1152dup (p.Cys384_Arg385insSerGluGluProCys) c.1198_1212dup (p.Cys404_Arg405insSerGluGluProCys) | gnomAD v4 |
| 12 | g.114674724C>A | CA386869507 | TBX3 | c.1151G>T (p.Cys384Phe) c.1211G>T (p.Cys404Phe) | dbSNP gnomAD v4 |
| 12 | g.114674724C= | CA2064766698 | TBX3 | c.1151G= (p.Cys384=) c.1211G= (p.Cys404=) | |
| 12 | g.114674724C>G | CA386869508 | TBX3 | c.1151G>C (p.Cys384Ser) c.1211G>C (p.Cys404Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674724C>T | CA386869506 | TBX3 | c.1151G>A (p.Cys384Tyr) c.1211G>A (p.Cys404Tyr) | gnomAD v4 |
| 12 | g.114674725A= | CA2064766701 | TBX3 | c.1150T= (p.Cys384=) c.1210T= (p.Cys404=) | |
| 12 | g.114674725A>C | CA386869509 | TBX3 | c.1150T>G (p.Cys384Gly) c.1210T>G (p.Cys404Gly) | |
| 12 | g.114674725A>G | CA386869510 | TBX3 | c.1150T>C (p.Cys384Arg) c.1210T>C (p.Cys404Arg) | |
| 12 | g.114674725A>T | CA386869511 | TBX3 | c.1150T>A (p.Cys384Ser) c.1210T>A (p.Cys404Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674726G>A | CA482136244 | TBX3 | c.1149C>T (p.Pro383=) c.1209C>T (p.Pro403=) | dbSNP gnomAD v4 |
| 12 | g.114674726G>C | CA6809983 | TBX3 | c.1149C>G (p.Pro383=) c.1209C>G (p.Pro403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674726G= | CA2064766704 | TBX3 | c.1149C= (p.Pro383=) c.1209C= (p.Pro403=) | |
| 12 | g.114674726G>T | CA482136246 | TBX3 | c.1149C>A (p.Pro383=) c.1209C>A (p.Pro403=) | gnomAD v4 |
| 12 | g.114674727G>A | CA386869512 | TBX3 | c.1148C>T (p.Pro383Leu) c.1208C>T (p.Pro403Leu) | ClinVar |
| 12 | g.114674727G>C | CA6809984 | TBX3 | c.1148C>G (p.Pro383Arg) c.1208C>G (p.Pro403Arg) | dbSNP ExAC |
| 12 | g.114674727G= | CA2064766710 | TBX3 | c.1148C= (p.Pro383=) c.1208C= (p.Pro403=) | |
| 12 | g.114674727G>T | CA386869513 | TBX3 | c.1148C>A (p.Pro383His) c.1208C>A (p.Pro403His) | gnomAD v4 |
| 12 | g.114674728_114674739del | CA2741290931 | TBX3 | c.1137_1148del (p.Ser380_Pro383del) c.1197_1208del (p.Ser400_Pro403del) | |
| 12 | g.114674728G>A | CA386869514 | TBX3 | c.1147C>T (p.Pro383Ser) c.1207C>T (p.Pro403Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674728G>C | CA386869516 | TBX3 | c.1147C>G (p.Pro383Ala) c.1207C>G (p.Pro403Ala) | |
| 12 | g.114674728G= | CA2064766716 | TBX3 | c.1147C= (p.Pro383=) c.1207C= (p.Pro403=) | |
| 12 | g.114674728G>T | CA386869515 | TBX3 | c.1147C>A (p.Pro383Thr) c.1207C>A (p.Pro403Thr) | gnomAD v4 |
| 12 | g.114674729C>A | CA6809985 | TBX3 | c.1146G>T (p.Glu382Asp) c.1206G>T (p.Glu402Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674729C= | CA2064766721 | TBX3 | c.1146G= (p.Glu382=) c.1206G= (p.Glu402=) | |
| 12 | g.114674729C>G | CA386869517 | TBX3 | c.1146G>C (p.Glu382Asp) c.1206G>C (p.Glu402Asp) | dbSNP |
| 12 | g.114674729C>T | CA482136254 | TBX3 | c.1146G>A (p.Glu382=) c.1206G>A (p.Glu402=) | gnomAD v4 |
| 12 | g.114674730T>A | CA386869518 | TBX3 | c.1145A>T (p.Glu382Val) c.1205A>T (p.Glu402Val) | |
| 12 | g.114674730T>C | CA386869519 | TBX3 | c.1145A>G (p.Glu382Gly) c.1205A>G (p.Glu402Gly) | dbSNP |
| 12 | g.114674730T>G | CA386869520 | TBX3 | c.1145A>C (p.Glu382Ala) c.1205A>C (p.Glu402Ala) | dbSNP |
| 12 | g.114674730T= | CA2064766724 | TBX3 | c.1145A= (p.Glu382=) c.1205A= (p.Glu402=) | |
| 12 | g.114674731C>A | CA386869522 | TBX3 | c.1144G>T (p.Glu382Ter) c.1204G>T (p.Glu402Ter) | gnomAD v4 |
| 12 | g.114674731C>G | CA386869523 | TBX3 | c.1144G>C (p.Glu382Gln) c.1204G>C (p.Glu402Gln) | |
| 12 | g.114674731C>T | CA386869521 | TBX3 | c.1144G>A (p.Glu382Lys) c.1204G>A (p.Glu402Lys) | dbSNP |
| 12 | g.114674732C>A | CA386869525 | TBX3 | c.1143G>T (p.Glu381Asp) c.1203G>T (p.Glu401Asp) | gnomAD v4 |
| 12 | g.114674732C= | CA2064766728 | TBX3 | c.1143G= (p.Glu381=) c.1203G= (p.Glu401=) | |
| 12 | g.114674732C>G | CA386869524 | TBX3 | c.1143G>C (p.Glu381Asp) c.1203G>C (p.Glu401Asp) | |
| 12 | g.114674732C>T | CA482136266 | TBX3 | c.1143G>A (p.Glu381=) c.1203G>A (p.Glu401=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674733T>A | CA386869528 | TBX3 | c.1142A>T (p.Glu381Val) c.1202A>T (p.Glu401Val) | |
| 12 | g.114674733T>C | CA386869526 | TBX3 | c.1142A>G (p.Glu381Gly) c.1202A>G (p.Glu401Gly) | gnomAD v4 |
| 12 | g.114674733T>G | CA386869527 | TBX3 | c.1142A>C (p.Glu381Ala) c.1202A>C (p.Glu401Ala) | gnomAD v4 |
| 12 | g.114674734C>A | CA386869529 | TBX3 | c.1141G>T (p.Glu381Ter) c.1201G>T (p.Glu401Ter) | ClinVar |
| 12 | g.114674734C= | CA2064766732 | TBX3 | c.1141G= (p.Glu381=) c.1201G= (p.Glu401=) | |
| 12 | g.114674734C>G | CA386869530 | TBX3 | c.1141G>C (p.Glu381Gln) c.1201G>C (p.Glu401Gln) | gnomAD v4 |
| 12 | g.114674734C>T | CA386869531 | TBX3 | c.1141G>A (p.Glu381Lys) c.1201G>A (p.Glu401Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674737_114674760dup | CA2621130037 | TBX3 | c.1118_1141dup (p.Ser380_Glu381insAlaLysIleSerThrThrThrSer) c.1178_1201dup (p.Ser400_Glu401insAlaLysIleSerThrThrThrSer) | gnomAD v4 |
| 12 | g.114674735C>A | CA482136275 | TBX3 | c.1140G>T (p.Ser380=) c.1200G>T (p.Ser400=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674735C= | CA2064766736 | TBX3 | c.1140G= (p.Ser380=) c.1200G= (p.Ser400=) | |
| 12 | g.114674735C>G | CA482136277 | TBX3 | c.1140G>C (p.Ser380=) c.1200G>C (p.Ser400=) | dbSNP |
| 12 | g.114674735C>T | CA6809986 | TBX3 | c.1140G>A (p.Ser380=) c.1200G>A (p.Ser400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674736G>A | CA386869534 | TBX3 | c.1139C>T (p.Ser380Leu) c.1199C>T (p.Ser400Leu) | dbSNP gnomAD v4 |
| 12 | g.114674736G>C | CA386869533 | TBX3 | c.1139C>G (p.Ser380Trp) c.1199C>G (p.Ser400Trp) | dbSNP |
| 12 | g.114674736G= | CA2064766741 | TBX3 | c.1139C= (p.Ser380=) c.1199C= (p.Ser400=) | |
| 12 | g.114674736G>T | CA386869532 | TBX3 | c.1139C>A (p.Ser380Ter) c.1199C>A (p.Ser400Ter) | dbSNP gnomAD v4 |
| 12 | g.114674737A>C | CA386869535 | TBX3 | c.1138T>G (p.Ser380Ala) c.1198T>G (p.Ser400Ala) | |
| 12 | g.114674737A>G | CA386869536 | TBX3 | c.1138T>C (p.Ser380Pro) c.1198T>C (p.Ser400Pro) | |
| 12 | g.114674737A>T | CA386869537 | TBX3 | c.1138T>A (p.Ser380Thr) c.1198T>A (p.Ser400Thr) | dbSNP |
| 12 | g.114674738C>A | CA482136283 | TBX3 | c.1137G>T (p.Thr379=) c.1197G>T (p.Thr399=) | |
| 12 | g.114674738C= | CA2064766743 | TBX3 | c.1137G= (p.Thr379=) c.1197G= (p.Thr399=) | |
| 12 | g.114674738C>G | CA482136284 | TBX3 | c.1137G>C (p.Thr379=) c.1197G>C (p.Thr399=) | dbSNP |
| 12 | g.114674738C>T | CA482136285 | TBX3 | c.1137G>A (p.Thr379=) c.1197G>A (p.Thr399=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674739G>A | CA6809987 | TBX3 | c.1136C>T (p.Thr379Met) c.1196C>T (p.Thr399Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674739G>C | CA386869538 | TBX3 | c.1136C>G (p.Thr379Arg) c.1196C>G (p.Thr399Arg) | |
| 12 | g.114674739G= | CA2064766747 | TBX3 | c.1136C= (p.Thr379=) c.1196C= (p.Thr399=) | |
| 12 | g.114674739G>T | CA386869539 | TBX3 | c.1136C>A (p.Thr379Lys) c.1196C>A (p.Thr399Lys) | gnomAD v4 |
| 12 | g.114674739dup | CA2695217428 | TBX3 | c.1136dup (p.Ser380ValfsTer7) c.1196dup (p.Ser400ValfsTer7) | |
| 12 | g.114674743_114674748dup | CA2621130038 | TBX3 | c.1131_1136dup (p.Thr379_Ser380insThrThr) c.1191_1196dup (p.Thr399_Ser400insThrThr) | gnomAD v4 |
| 12 | g.114674740T>A | CA386869542 | TBX3 | c.1135A>T (p.Thr379Ser) c.1195A>T (p.Thr399Ser) | |
| 12 | g.114674740T>C | CA386869540 | TBX3 | c.1135A>G (p.Thr379Ala) c.1195A>G (p.Thr399Ala) | |
| 12 | g.114674740T>G | CA386869541 | TBX3 | c.1135A>C (p.Thr379Pro) c.1195A>C (p.Thr399Pro) | |
| 12 | g.114674741G>A | CA482136290 | TBX3 | c.1134C>T (p.Thr378=) c.1194C>T (p.Thr398=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674741G>C | CA482136293 | TBX3 | c.1134C>G (p.Thr378=) c.1194C>G (p.Thr398=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674741G= | CA2064766750 | TBX3 | c.1134C= (p.Thr378=) c.1194C= (p.Thr398=) | |
| 12 | g.114674741G>T | CA482136291 | TBX3 | c.1134C>A (p.Thr378=) c.1194C>A (p.Thr398=) | gnomAD v4 |
| 12 | g.114674742G>A | CA386869543 | TBX3 | c.1133C>T (p.Thr378Ile) c.1193C>T (p.Thr398Ile) | |
| 12 | g.114674742G>C | CA386869544 | TBX3 | c.1133C>G (p.Thr378Ser) c.1193C>G (p.Thr398Ser) | |
| 12 | g.114674742G>T | CA386869545 | TBX3 | c.1133C>A (p.Thr378Asn) c.1193C>A (p.Thr398Asn) | gnomAD v4 |
| 12 | g.114674743T>A | CA386869546 | TBX3 | c.1132A>T (p.Thr378Ser) c.1192A>T (p.Thr398Ser) | |
| 12 | g.114674743T>C | CA386869547 | TBX3 | c.1132A>G (p.Thr378Ala) c.1192A>G (p.Thr398Ala) | |
| 12 | g.114674743T>G | CA386869548 | TBX3 | c.1132A>C (p.Thr378Pro) c.1192A>C (p.Thr398Pro) | dbSNP |
| 12 | g.114674743T= | CA2064766754 | TBX3 | c.1132A= (p.Thr378=) c.1192A= (p.Thr398=) | |
| 12 | g.114674744G>A | CA482136298 | TBX3 | c.1131C>T (p.Thr377=) c.1191C>T (p.Thr397=) | gnomAD v4 |
| 12 | g.114674744G>C | CA482136299 | TBX3 | c.1131C>G (p.Thr377=) c.1191C>G (p.Thr397=) | gnomAD v4 |
| 12 | g.114674744G>T | CA482136300 | TBX3 | c.1131C>A (p.Thr377=) c.1191C>A (p.Thr397=) | gnomAD v4 |
| 12 | g.114674745G>A | CA386869549 | TBX3 | c.1130C>T (p.Thr377Ile) c.1190C>T (p.Thr397Ile) | |
| 12 | g.114674745G>C | CA386869550 | TBX3 | c.1130C>G (p.Thr377Ser) c.1190C>G (p.Thr397Ser) | |
| 12 | g.114674745G>T | CA386869551 | TBX3 | c.1130C>A (p.Thr377Asn) c.1190C>A (p.Thr397Asn) | gnomAD v4 |
| 12 | g.114674746T>A | CA386869552 | TBX3 | c.1129A>T (p.Thr377Ser) c.1189A>T (p.Thr397Ser) | |
| 12 | g.114674746T>C | CA386869553 | TBX3 | c.1129A>G (p.Thr377Ala) c.1189A>G (p.Thr397Ala) | gnomAD v4 |
| 12 | g.114674746T>G | CA386869554 | TBX3 | c.1129A>C (p.Thr377Pro) c.1189A>C (p.Thr397Pro) | dbSNP |
| 12 | g.114674746T= | CA2064766758 | TBX3 | c.1129A= (p.Thr377=) c.1189A= (p.Thr397=) | |
| 12 | g.114674746_114674749delinsTGGA | CA2064766757 | TBX3 | c.1126_1129delinsTCCA (p.Ser376=) c.1186_1189delinsTCCA (p.Ser396=) | |
| 12 | g.114674747G>A | CA482136318 | TBX3 | c.1128C>T (p.Ser376=) c.1188C>T (p.Ser396=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674747G>C | CA482136320 | TBX3 | c.1128C>G (p.Ser376=) c.1188C>G (p.Ser396=) | |
| 12 | g.114674747G= | CA2064766765 | TBX3 | c.1128C= (p.Ser376=) c.1188C= (p.Ser396=) | |
| 12 | g.114674747G>T | CA482136321 | TBX3 | c.1128C>A (p.Ser376=) c.1188C>A (p.Ser396=) | gnomAD v4 |
| 12 | g.114674748_114674750del | CA6809988 | TBX3 | c.1126_1128del (p.Ser376del) c.1186_1188del (p.Ser396del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674748G>A | CA386869556 | TBX3 | c.1127C>T (p.Ser376Phe) c.1187C>T (p.Ser396Phe) | |
| 12 | g.114674748G>C | CA6809989 | TBX3 | c.1127C>G (p.Ser376Cys) c.1187C>G (p.Ser396Cys) | dbSNP ExAC gnomAD v2 |
| 12 | g.114674748G= | CA2064766770 | TBX3 | c.1127C= (p.Ser376=) c.1187C= (p.Ser396=) | |
| 12 | g.114674748G>T | CA386869555 | TBX3 | c.1127C>A (p.Ser376Tyr) c.1187C>A (p.Ser396Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674749A= | CA2064766776 | TBX3 | c.1126T= (p.Ser376=) c.1186T= (p.Ser396=) | |
| 12 | g.114674749A>C | CA386869557 | TBX3 | c.1126T>G (p.Ser376Ala) c.1186T>G (p.Ser396Ala) | |
| 12 | g.114674749A>G | CA386869558 | TBX3 | c.1126T>C (p.Ser376Pro) c.1186T>C (p.Ser396Pro) | dbSNP gnomAD v4 |
| 12 | g.114674749A>T | CA6809990 | TBX3 | c.1126T>A (p.Ser376Thr) c.1186T>A (p.Ser396Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674750G>A | CA6809991 | TBX3 | c.1125C>T (p.Ile375=) c.1185C>T (p.Ile395=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674750G>C | CA386869559 | TBX3 | c.1125C>G (p.Ile375Met) c.1185C>G (p.Ile395Met) | |
| 12 | g.114674750G= | CA2064766785 | TBX3 | c.1125C= (p.Ile375=) c.1185C= (p.Ile395=) | |
| 12 | g.114674750G>T | CA482136326 | TBX3 | c.1125C>A (p.Ile375=) c.1185C>A (p.Ile395=) | |
| 12 | g.114674751A>C | CA386869560 | TBX3 | c.1124T>G (p.Ile375Ser) c.1184T>G (p.Ile395Ser) | |
| 12 | g.114674751A>G | CA386869561 | TBX3 | c.1124T>C (p.Ile375Thr) c.1184T>C (p.Ile395Thr) | |
| 12 | g.114674751A>T | CA386869562 | TBX3 | c.1124T>A (p.Ile375Asn) c.1184T>A (p.Ile395Asn) | |
| 12 | g.114674752T>A | CA386869563 | TBX3 | c.1123A>T (p.Ile375Phe) c.1183A>T (p.Ile395Phe) | |
| 12 | g.114674752T>C | CA386869564 | TBX3 | c.1123A>G (p.Ile375Val) c.1183A>G (p.Ile395Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674752T>G | CA386869565 | TBX3 | c.1123A>C (p.Ile375Leu) c.1183A>C (p.Ile395Leu) | |
| 12 | g.114674752T= | CA2064766791 | TBX3 | c.1123A= (p.Ile375=) c.1183A= (p.Ile395=) | |
| 12 | g.114674753C>A | CA386869566 | TBX3 | c.1122G>T (p.Lys374Asn) c.1182G>T (p.Lys394Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674753C= | CA2064766796 | TBX3 | c.1122G= (p.Lys374=) c.1182G= (p.Lys394=) | |
| 12 | g.114674753C>G | CA386869567 | TBX3 | c.1122G>C (p.Lys374Asn) c.1182G>C (p.Lys394Asn) | |
| 12 | g.114674753C>T | CA482136330 | TBX3 | c.1122G>A (p.Lys374=) c.1182G>A (p.Lys394=) | |
| 12 | g.114674754T>A | CA386869569 | TBX3 | c.1121A>T (p.Lys374Met) c.1181A>T (p.Lys394Met) | |
| 12 | g.114674754T>C | CA386869568 | TBX3 | c.1121A>G (p.Lys374Arg) c.1181A>G (p.Lys394Arg) | gnomAD v4 |
| 12 | g.114674754T>G | CA6809992 | TBX3 | c.1121A>C (p.Lys374Thr) c.1181A>C (p.Lys394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674754T= | CA2064766800 | TBX3 | c.1121A= (p.Lys374=) c.1181A= (p.Lys394=) | |
| 12 | g.114674754_114674758delinsTTGGC | CA2064766804 | TBX3 | c.1117_1121delinsGCCAA (p.Ala373=) c.1177_1181delinsGCCAA (p.Ala393=) | |
| 12 | g.114674755T>A | CA386869570 | TBX3 | c.1120A>T (p.Lys374Ter) c.1180A>T (p.Lys394Ter) | |
| 12 | g.114674755T>C | CA386869571 | TBX3 | c.1120A>G (p.Lys374Glu) c.1180A>G (p.Lys394Glu) | |
| 12 | g.114674755T>G | CA386869572 | TBX3 | c.1120A>C (p.Lys374Gln) c.1180A>C (p.Lys394Gln) | |
| 12 | g.114674755_114674758del | CA952074297 | TBX3 | c.1117_1120del (p.Ala373ArgfsTer?) c.1177_1180del (p.Ala393ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674756G>A | CA482136334 | TBX3 | c.1119C>T (p.Ala373=) c.1179C>T (p.Ala393=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674756G>C | CA6809993 | TBX3 | c.1119C>G (p.Ala373=) c.1179C>G (p.Ala393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674756G= | CA2064766812 | TBX3 | c.1119C= (p.Ala373=) c.1179C= (p.Ala393=) | |
| 12 | g.114674756G>T | CA482136338 | TBX3 | c.1119C>A (p.Ala373=) c.1179C>A (p.Ala393=) | gnomAD v4 |
| 12 | g.114674757G>A | CA386869573 | TBX3 | c.1118C>T (p.Ala373Val) c.1178C>T (p.Ala393Val) | gnomAD v4 |
| 12 | g.114674757G>C | CA386869574 | TBX3 | c.1118C>G (p.Ala373Gly) c.1178C>G (p.Ala393Gly) | dbSNP |
| 12 | g.114674757G>T | CA386869575 | TBX3 | c.1118C>A (p.Ala373Asp) c.1178C>A (p.Ala393Asp) | gnomAD v4 |
| 12 | g.114674758C>A | CA386869576 | TBX3 | c.1117G>T (p.Ala373Ser) c.1177G>T (p.Ala393Ser) | gnomAD v4 |
| 12 | g.114674758C>G | CA386869577 | TBX3 | c.1117G>C (p.Ala373Pro) c.1177G>C (p.Ala393Pro) | |
| 12 | g.114674758C>T | CA386869578 | TBX3 | c.1117G>A (p.Ala373Thr) c.1177G>A (p.Ala393Thr) | dbSNP gnomAD v4 |
| 12 | g.114674759C>A | CA482136343 | TBX3 | c.1116G>T (p.Ala372=) c.1176G>T (p.Ala392=) | |
| 12 | g.114674759C>G | CA482136345 | TBX3 | c.1116G>C (p.Ala372=) c.1176G>C (p.Ala392=) | |
| 12 | g.114674759C>T | CA482136346 | TBX3 | c.1116G>A (p.Ala372=) c.1176G>A (p.Ala392=) | dbSNP gnomAD v4 |
| 12 | g.114674760G>A | CA386869579 | TBX3 | c.1115C>T (p.Ala372Val) c.1175C>T (p.Ala392Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.114674760G>C | CA386869580 | TBX3 | c.1115C>G (p.Ala372Gly) c.1175C>G (p.Ala392Gly) | |
| 12 | g.114674760G= | CA2064766815 | TBX3 | c.1115C= (p.Ala372=) c.1175C= (p.Ala392=) | |
| 12 | g.114674760G>T | CA386869581 | TBX3 | c.1115C>A (p.Ala372Glu) c.1175C>A (p.Ala392Glu) | gnomAD v4 |
| 12 | g.114674760_114674761delinsGC | CA2064766817 | TBX3 | c.1114_1115delinsGC (p.Ala372=) c.1174_1175delinsGC (p.Ala392=) | |
| 12 | g.114674761del | CA952074306 | TBX3 | c.1114del (p.Ala372ArgfsTer?) c.1174del (p.Ala392ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674761C>A | CA386869583 | TBX3 | c.1114G>T (p.Ala372Ser) c.1174G>T (p.Ala392Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114674761C= | CA2064766823 | TBX3 | c.1114G= (p.Ala372=) c.1174G= (p.Ala392=) | |
| 12 | g.114674761C>G | CA386869584 | TBX3 | c.1114G>C (p.Ala372Pro) c.1174G>C (p.Ala392Pro) | dbSNP |
| 12 | g.114674761C>T | CA386869582 | TBX3 | c.1114G>A (p.Ala372Thr) c.1174G>A (p.Ala392Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674762G>A | CA6809994 | TBX3 | c.1113C>T (p.Asp371=) c.1173C>T (p.Asp391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.114674762G>C | CA386869586 | TBX3 | c.1113C>G (p.Asp371Glu) c.1173C>G (p.Asp391Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674762G= | CA2064766829 | TBX3 | c.1113C= (p.Asp371=) c.1173C= (p.Asp391=) | |
| 12 | g.114674762G>T | CA386869585 | TBX3 | c.1113C>A (p.Asp371Glu) c.1173C>A (p.Asp391Glu) | gnomAD v4 |
| 12 | g.114674763T>A | CA386869587 | TBX3 | c.1112A>T (p.Asp371Val) c.1172A>T (p.Asp391Val) | dbSNP gnomAD v4 |
| 12 | g.114674763T>C | CA386869588 | TBX3 | c.1112A>G (p.Asp371Gly) c.1172A>G (p.Asp391Gly) | dbSNP gnomAD v4 |
| 12 | g.114674763T>G | CA386869589 | TBX3 | c.1112A>C (p.Asp371Ala) c.1172A>C (p.Asp391Ala) | |
| 12 | g.114674763T= | CA2064766836 | TBX3 | c.1112A= (p.Asp371=) c.1172A= (p.Asp391=) | |
| 12 | g.114674763_114674767delinsTCGCA | CA2064766837 | TBX3 | c.1108_1112delinsTGCGA (p.Cys370=) c.1168_1172delinsTGCGA (p.Cys390=) | |
| 12 | g.114674764C>A | CA386869590 | TBX3 | c.1111G>T (p.Asp371Tyr) c.1171G>T (p.Asp391Tyr) | gnomAD v4 |
| 12 | g.114674764C= | CA2064766841 | TBX3 | c.1111G= (p.Asp371=) c.1171G= (p.Asp391=) | |
| 12 | g.114674764C>G | CA386869591 | TBX3 | c.1111G>C (p.Asp371His) c.1171G>C (p.Asp391His) | gnomAD v4 |
| 12 | g.114674764C>T | CA386869592 | TBX3 | c.1111G>A (p.Asp371Asn) c.1171G>A (p.Asp391Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674764_114674767del | CA952074317 | TBX3 | c.1108_1111del (p.Cys370ThrfsTer?) c.1168_1171del (p.Cys390ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674765G>A | CA482136352 | TBX3 | c.1110C>T (p.Cys370=) c.1170C>T (p.Cys390=) | dbSNP gnomAD v4 |
| 12 | g.114674765G>C | CA386869593 | TBX3 | c.1110C>G (p.Cys370Trp) c.1170C>G (p.Cys390Trp) | |
| 12 | g.114674765G= | CA2064766845 | TBX3 | c.1110C= (p.Cys370=) c.1170C= (p.Cys390=) | |
| 12 | g.114674765G>T | CA386869594 | TBX3 | c.1110C>A (p.Cys370Ter) c.1170C>A (p.Cys390Ter) | gnomAD v4 |
| 12 | g.114674766C>A | CA386869595 | TBX3 | c.1109G>T (p.Cys370Phe) c.1169G>T (p.Cys390Phe) | dbSNP gnomAD v4 |
| 12 | g.114674766C= | CA2064766846 | TBX3 | c.1109G= (p.Cys370=) c.1169G= (p.Cys390=) | |
| 12 | g.114674766C>G | CA386869596 | TBX3 | c.1109G>C (p.Cys370Ser) c.1169G>C (p.Cys390Ser) | |
| 12 | g.114674766C>T | CA386869597 | TBX3 | c.1109G>A (p.Cys370Tyr) c.1169G>A (p.Cys390Tyr) | gnomAD v3 gnomAD v4 |
| 12 | g.114674767A= | CA2064766851 | TBX3 | c.1108T= (p.Cys370=) c.1168T= (p.Cys390=) | |
| 12 | g.114674767A>C | CA386869599 | TBX3 | c.1108T>G (p.Cys370Gly) c.1168T>G (p.Cys390Gly) | |
| 12 | g.114674767A>G | CA6809995 | TBX3 | c.1108T>C (p.Cys370Arg) c.1168T>C (p.Cys390Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674767A>T | CA386869598 | TBX3 | c.1108T>A (p.Cys370Ser) c.1168T>A (p.Cys390Ser) | gnomAD v4 |
| 12 | g.114674767_114674797delinsAGGCCTCGGGGCCATGCTCCTCTTTGCTCTC | CA2064766853 | TBX3 | c.1078_1108delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu360=) c.1138_1168delinsGAGAGCAAAGAGGAGCATGGCCCCGAGGCCT (p.Glu380=) | |
| 12 | g.114674768G>A | CA482136355 | TBX3 | c.1107C>T (p.Ala369=) c.1167C>T (p.Ala389=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674768G>C | CA482136356 | TBX3 | c.1107C>G (p.Ala369=) c.1167C>G (p.Ala389=) | |
| 12 | g.114674768G= | CA2064766860 | TBX3 | c.1107C= (p.Ala369=) c.1167C= (p.Ala389=) | |
| 12 | g.114674768G>T | CA482136357 | TBX3 | c.1107C>A (p.Ala369=) c.1167C>A (p.Ala389=) | gnomAD v4 |
| 12 | g.114674776_114674805del | CA2064766856 | TBX3 | c.1078_1107del (p.Glu360_Ala369del) c.1138_1167del (p.Glu380_Ala389del) | dbSNP |
| 12 | g.114674769G>A | CA386869600 | TBX3 | c.1106C>T (p.Ala369Val) c.1166C>T (p.Ala389Val) | dbSNP |
| 12 | g.114674769G>C | CA386869601 | TBX3 | c.1106C>G (p.Ala369Gly) c.1166C>G (p.Ala389Gly) | dbSNP |
| 12 | g.114674769G>T | CA386869602 | TBX3 | c.1106C>A (p.Ala369Asp) c.1166C>A (p.Ala389Asp) | gnomAD v4 |
| 12 | g.114674769_114674771delinsGCC | CA2064766865 | TBX3 | c.1104_1106delinsGGC (p.Glu368=) c.1164_1166delinsGGC (p.Glu388=) | |
| 12 | g.114674770C>A | CA386869603 | TBX3 | c.1105G>T (p.Ala369Ser) c.1165G>T (p.Ala389Ser) | dbSNP gnomAD v4 |
| 12 | g.114674770C>G | CA386869604 | TBX3 | c.1105G>C (p.Ala369Pro) c.1165G>C (p.Ala389Pro) | |
| 12 | g.114674770C>T | CA386869605 | TBX3 | c.1105G>A (p.Ala369Thr) c.1165G>A (p.Ala389Thr) | gnomAD v4 |
| 12 | g.114674770_114674771del | CA952074344 | TBX3 | c.1104_1105del (p.Glu368AspfsTer18) c.1164_1165del (p.Glu388AspfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.114674771_114674773del | CA2621130039 | TBX3 | c.1103_1105del (p.Glu368del) c.1163_1165del (p.Glu388del) | gnomAD v4 |
| 12 | g.114674771C>A | CA386869606 | TBX3 | c.1104G>T (p.Glu368Asp) c.1164G>T (p.Glu388Asp) | gnomAD v4 COSMIC |
| 12 | g.114674771C= | CA2064766872 | TBX3 | c.1104G= (p.Glu368=) c.1164G= (p.Glu388=) | |
| 12 | g.114674771C>G | CA6809996 | TBX3 | c.1104G>C (p.Glu368Asp) c.1164G>C (p.Glu388Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.114674771C>T | CA482136361 | TBX3 | c.1104G>A (p.Glu368=) c.1164G>A (p.Glu388=) | dbSNP gnomAD v4 |
| 12 | g.114674772T>A | CA386869607 | TBX3 | c.1103A>T (p.Glu368Val) c.1163A>T (p.Glu388Val) | dbSNP |
| 12 | g.114674772T>C | CA386869608 | TBX3 | c.1103A>G (p.Glu368Gly) c.1163A>G (p.Glu388Gly) | gnomAD v4 |
| 12 | g.114674772T>G | CA386869609 | TBX3 | c.1103A>C (p.Glu368Ala) c.1163A>C (p.Glu388Ala) | |
| 12 | g.114674773C>A | CA386869611 | TBX3 | c.1102G>T (p.Glu368Ter) c.1162G>T (p.Glu388Ter) | |
| 12 | g.114674773C= | CA2064766874 | TBX3 | c.1102G= (p.Glu368=) c.1162G= (p.Glu388=) | |
| 12 | g.114674773C>G | CA386869612 | TBX3 | c.1102G>C (p.Glu368Gln) c.1162G>C (p.Glu388Gln) | dbSNP gnomAD v2 |
| 12 | g.114674773C>T | CA386869610 | TBX3 | c.1102G>A (p.Glu368Lys) c.1162G>A (p.Glu388Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.114674773_114674776delinsCGGG | CA2064766880 | TBX3 | c.1099_1102delinsCCCG (p.Pro367=) c.1159_1162delinsCCCG (p.Pro387=) | |
| 12 | g.114674774G>A | CA6809998 | TBX3 | c.1101C>T (p.Pro367=) c.1161C>T (p.Pro387=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674774G>C | CA6809997 | TBX3 | c.1101C>G (p.Pro367=) c.1161C>G (p.Pro387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114674774G= | CA2064766892 | TBX3 | c.1101C= (p.Pro367=) c.1161C= (p.Pro387=) | |
| 12 | g.114674774G>T | CA482136367 | TBX3 | c.1101C>A (p.Pro367=) c.1161C>A (p.Pro387=) | gnomAD v4 |
| 12 | g.114674777del | CA2621130041 | TBX3 | c.1101del (p.Glu368ArgfsTer?) c.1161del (p.Glu388ArgfsTer?) | gnomAD v4 |
| 12 | g.114674775_114674777del | CA952074354 | TBX3 | c.1099_1101del (p.Pro367del) c.1159_1161del (p.Pro387del) | dbSNP gnomAD v3 gnomAD v4 |