| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114401890C>A | CA16619437 | TBX5 | c.178G>T (p.Glu60Ter) c.28G>T (p.Glu10Ter) n.229G>T c.226G>T (p.Glu76Ter) | ClinVar dbSNP |
| 12 | g.114401890C= | CA2064655195 | TBX5 | c.178G= (p.Glu60=) c.28G= (p.Glu10=) n.229G= c.226G= (p.Glu76=) | |
| 12 | g.114401890C>G | CA386863216 | TBX5 | c.178G>C (p.Glu60Gln) c.28G>C (p.Glu10Gln) n.229G>C c.226G>C (p.Glu76Gln) | |
| 12 | g.114401890C>T | CA386863217 | TBX5 | c.178G>A (p.Glu60Lys) c.28G>A (p.Glu10Lys) n.229G>A c.226G>A (p.Glu76Lys) | |
| 12 | g.114401891A= | CA2064655200 | TBX5 | c.177T= (p.His59=) c.27T= (p.His9=) n.228T= c.225T= (p.His75=) | |
| 12 | g.114401891A>C | CA386863221 | TBX5 | c.177T>G (p.His59Gln) c.27T>G (p.His9Gln) n.228T>G c.225T>G (p.His75Gln) | |
| 12 | g.114401891A>G | CA6809686 | TBX5 | c.177T>C (p.His59=) c.27T>C (p.His9=) n.228T>C c.225T>C (p.His75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114401891A>T | CA386863219 | TBX5 | c.177T>A (p.His59Gln) c.27T>A (p.His9Gln) n.228T>A c.225T>A (p.His75Gln) | |
| 12 | g.114401892T>A | CA386863223 | TBX5 | c.176A>T (p.His59Leu) c.26A>T (p.His9Leu) n.227A>T c.224A>T (p.His75Leu) | |
| 12 | g.114401892T>C | CA386863226 | TBX5 | c.176A>G (p.His59Arg) c.26A>G (p.His9Arg) n.227A>G c.224A>G (p.His75Arg) | gnomAD v4 |
| 12 | g.114401892T>G | CA386863225 | TBX5 | c.176A>C (p.His59Pro) c.26A>C (p.His9Pro) n.227A>C c.224A>C (p.His75Pro) | gnomAD v4 |
| 12 | g.114401893G>A | CA386863228 | TBX5 | c.175C>T (p.His59Tyr) c.25C>T (p.His9Tyr) n.226C>T c.223C>T (p.His75Tyr) | gnomAD v4 COSMIC COSMIC |
| 12 | g.114401893G>C | CA386863232 | TBX5 | c.175C>G (p.His59Asp) c.25C>G (p.His9Asp) n.226C>G c.223C>G (p.His75Asp) | |
| 12 | g.114401893G>T | CA386863230 | TBX5 | c.175C>A (p.His59Asn) c.25C>A (p.His9Asn) n.226C>A c.223C>A (p.His75Asn) | |
| 12 | g.114401894G>A | CA10636535 | TBX5 | c.174C>T (p.Leu58=) c.24C>T (p.Leu8=) n.225C>T c.222C>T (p.Leu74=) | ClinVar dbSNP |
| 12 | g.114401894G>C | CA481920818 | TBX5 | c.174C>G (p.Leu58=) c.24C>G (p.Leu8=) n.225C>G c.222C>G (p.Leu74=) | |
| 12 | g.114401894G= | CA2064655203 | TBX5 | c.174C= (p.Leu58=) c.24C= (p.Leu8=) n.225C= c.222C= (p.Leu74=) | |
| 12 | g.114401894G>T | CA481920817 | TBX5 | c.174C>A (p.Leu58=) c.24C>A (p.Leu8=) n.225C>A c.222C>A (p.Leu74=) | ClinVar |
| 12 | g.114401895A= | CA2064655211 | TBX5 | c.173T= (p.Leu58=) c.23T= (p.Leu8=) n.224T= c.221T= (p.Leu74=) | |
| 12 | g.114401895A>C | CA386863235 | TBX5 | c.173T>G (p.Leu58Arg) c.23T>G (p.Leu8Arg) n.224T>G c.221T>G (p.Leu74Arg) | |
| 12 | g.114401895A>G | CA386863236 | TBX5 | c.173T>C (p.Leu58Pro) c.23T>C (p.Leu8Pro) n.224T>C c.221T>C (p.Leu74Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114401895A>T | CA386863237 | TBX5 | c.173T>A (p.Leu58His) c.23T>A (p.Leu8His) n.224T>A c.221T>A (p.Leu74His) | |
| 12 | g.114401895_114401905delinsAGAAACACTTT | CA2064655210 | TBX5 | c.163_173delinsAAAGTGTTTCT (p.Lys55=) c.13_23delinsAAAGTGTTTCT (p.Lys5=) n.214_224delinsAAAGTGTTTCT c.211_221delinsAAAGTGTTTCT (p.Lys71=) | |
| 12 | g.114401896G>A | CA386863238 | TBX5 | c.172C>T (p.Leu58Phe) c.22C>T (p.Leu8Phe) n.223C>T c.220C>T (p.Leu74Phe) | COSMIC COSMIC |
| 12 | g.114401896G>C | CA386863239 | TBX5 | c.172C>G (p.Leu58Val) c.22C>G (p.Leu8Val) n.223C>G c.220C>G (p.Leu74Val) | |
| 12 | g.114401896G>T | CA386863240 | TBX5 | c.172C>A (p.Leu58Ile) c.22C>A (p.Leu8Ile) n.223C>A c.220C>A (p.Leu74Ile) | |
| 12 | g.114401898_114401907del | CA915946706 | TBX5 | c.163_172del (p.Lys55SerfsTer8) c.13_22del (p.Lys5SerfsTer8) n.214_223del c.211_220del (p.Lys71SerfsTer8) | ClinVar dbSNP |
| 12 | g.114401897A>C | CA386863242 | TBX5 | c.171T>G (p.Phe57Leu) c.21T>G (p.Phe7Leu) n.222T>G c.219T>G (p.Phe73Leu) | |
| 12 | g.114401897A>G | CA481920819 | TBX5 | c.171T>C (p.Phe57=) c.21T>C (p.Phe7=) n.222T>C c.219T>C (p.Phe73=) | |
| 12 | g.114401897A>T | CA386863244 | TBX5 | c.171T>A (p.Phe57Leu) c.21T>A (p.Phe7Leu) n.222T>A c.219T>A (p.Phe73Leu) | |
| 12 | g.114401898A>C | CA386863246 | TBX5 | c.170T>G (p.Phe57Cys) c.20T>G (p.Phe7Cys) n.221T>G c.218T>G (p.Phe73Cys) | |
| 12 | g.114401898A>G | CA386863248 | TBX5 | c.170T>C (p.Phe57Ser) c.20T>C (p.Phe7Ser) n.221T>C c.218T>C (p.Phe73Ser) | |
| 12 | g.114401898A>T | CA386863250 | TBX5 | c.170T>A (p.Phe57Tyr) c.20T>A (p.Phe7Tyr) n.221T>A c.218T>A (p.Phe73Tyr) | |
| 12 | g.114401899A= | CA2064655222 | TBX5 | c.169T= (p.Phe57=) c.19T= (p.Phe7=) n.220T= c.217T= (p.Phe73=) | |
| 12 | g.114401899A>C | CA386863252 | TBX5 | c.169T>G (p.Phe57Val) c.19T>G (p.Phe7Val) n.220T>G c.217T>G (p.Phe73Val) | |
| 12 | g.114401899A>G | CA386863254 | TBX5 | c.169T>C (p.Phe57Leu) c.19T>C (p.Phe7Leu) n.220T>C c.217T>C (p.Phe73Leu) | |
| 12 | g.114401899A>T | CA6809687 | TBX5 | c.169T>A (p.Phe57Ile) c.19T>A (p.Phe7Ile) n.220T>A c.217T>A (p.Phe73Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114401900C>A | CA481920820 | TBX5 | c.168G>T (p.Val56=) c.18G>T (p.Val6=) n.219G>T c.216G>T (p.Val72=) | |
| 12 | g.114401900C= | CA2064655256 | TBX5 | c.168G= (p.Val56=) c.18G= (p.Val6=) n.219G= c.216G= (p.Val72=) | |
| 12 | g.114401900C>G | CA481920821 | TBX5 | c.168G>C (p.Val56=) c.18G>C (p.Val6=) n.219G>C c.216G>C (p.Val72=) | |
| 12 | g.114401900C>T | CA6809688 | TBX5 | c.168G>A (p.Val56=) c.18G>A (p.Val6=) n.219G>A c.216G>A (p.Val72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114401901A= | CA2064655265 | TBX5 | c.167T= (p.Val56=) c.17T= (p.Val6=) n.218T= c.215T= (p.Val72=) | |
| 12 | g.114401901A>C | CA386863257 | TBX5 | c.167T>G (p.Val56Gly) c.17T>G (p.Val6Gly) n.218T>G c.215T>G (p.Val72Gly) | |
| 12 | g.114401901A>G | CA386863259 | TBX5 | c.167T>C (p.Val56Ala) c.17T>C (p.Val6Ala) n.218T>C c.215T>C (p.Val72Ala) | COSMIC |
| 12 | g.114401901A>T | CA386863261 | TBX5 | c.167T>A (p.Val56Glu) c.17T>A (p.Val6Glu) n.218T>A c.215T>A (p.Val72Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114401902del | CA2499221457 | TBX5 | c.166del (p.Val56CysfsTer10) c.16del (p.Val6CysfsTer10) n.217del c.214del (p.Val72CysfsTer10) | ClinVar dbSNP |
| 12 | g.114401902C>A | CA386863263 | TBX5 | c.166G>T (p.Val56Leu) c.16G>T (p.Val6Leu) n.217G>T c.214G>T (p.Val72Leu) | |
| 12 | g.114401902C= | CA2064655271 | TBX5 | c.166G= (p.Val56=) c.16G= (p.Val6=) n.217G= c.214G= (p.Val72=) | |
| 12 | g.114401902C>G | CA386863265 | TBX5 | c.166G>C (p.Val56Leu) c.16G>C (p.Val6Leu) n.217G>C c.214G>C (p.Val72Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.114401902C>T | CA386863267 | TBX5 | c.166G>A (p.Val56Met) c.16G>A (p.Val6Met) n.217G>A c.214G>A (p.Val72Met) | gnomAD v4 |