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) | 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) |