| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19765089G>A | CA10102571 | TBX1 | c.369G>A (p.Ala123=) c.843G>A (p.Ala281=) c.816G>A (p.Ala272=) n.11G>A c.966G>A (p.Ala322=) c.117G>A (p.Ala39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19765089G>C | CA10102570 | TBX1 | c.369G>C (p.Ala123=) c.843G>C (p.Ala281=) c.816G>C (p.Ala272=) n.11G>C c.966G>C (p.Ala322=) c.117G>C (p.Ala39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19765089G= | CA2396031466 | TBX1 | c.369G= (p.Ala123=) c.843G= (p.Ala281=) c.816G= (p.Ala272=) n.11G= c.966G= (p.Ala322=) c.117G= (p.Ala39=) | |
| 22 | g.19765089G>T | CA513361434 | TBX1 | c.369G>T (p.Ala123=) c.843G>T (p.Ala281=) c.816G>T (p.Ala272=) n.11G>T c.966G>T (p.Ala322=) c.117G>T (p.Ala39=) | |
| 22 | g.19765090G>A | CA410683512 | TBX1 | c.370G>A (p.Val124Ile) c.844G>A (p.Val282Ile) c.817G>A (p.Val273Ile) n.12G>A c.967G>A (p.Val323Ile) c.118G>A (p.Val40Ile) | COSMIC COSMIC COSMIC |
| 22 | g.19765090G>C | CA410683510 | TBX1 | c.370G>C (p.Val124Leu) c.844G>C (p.Val282Leu) c.817G>C (p.Val273Leu) n.12G>C c.967G>C (p.Val323Leu) c.118G>C (p.Val40Leu) | |
| 22 | g.19765090G>T | CA410683511 | TBX1 | c.370G>T (p.Val124Phe) c.844G>T (p.Val282Phe) c.817G>T (p.Val273Phe) n.12G>T c.967G>T (p.Val323Phe) c.118G>T (p.Val40Phe) | COSMIC COSMIC COSMIC |
| 22 | g.19765091T>A | CA410683513 | TBX1 | c.371T>A (p.Val124Asp) c.845T>A (p.Val282Asp) c.818T>A (p.Val273Asp) n.13T>A c.968T>A (p.Val323Asp) c.119T>A (p.Val40Asp) | |
| 22 | g.19765091T>C | CA410683514 | TBX1 | c.371T>C (p.Val124Ala) c.845T>C (p.Val282Ala) c.818T>C (p.Val273Ala) n.13T>C c.968T>C (p.Val323Ala) c.119T>C (p.Val40Ala) | |
| 22 | g.19765091T>G | CA410683515 | TBX1 | c.371T>G (p.Val124Gly) c.845T>G (p.Val282Gly) c.818T>G (p.Val273Gly) n.13T>G c.968T>G (p.Val323Gly) c.119T>G (p.Val40Gly) | |
| 22 | g.19765092C>A | CA513361435 | TBX1 | c.372C>A (p.Val124=) c.846C>A (p.Val282=) c.819C>A (p.Val273=) n.14C>A c.969C>A (p.Val323=) c.120C>A (p.Val40=) | |
| 22 | g.19765092C>G | CA513361436 | TBX1 | c.372C>G (p.Val124=) c.846C>G (p.Val282=) c.819C>G (p.Val273=) n.14C>G c.969C>G (p.Val323=) c.120C>G (p.Val40=) | |
| 22 | g.19765092C>T | CA513361437 | TBX1 | c.372C>T (p.Val124=) c.846C>T (p.Val282=) c.819C>T (p.Val273=) n.14C>T c.969C>T (p.Val323=) c.120C>T (p.Val40=) | |
| 22 | g.19765093A>C | CA410683516 | TBX1 | c.373A>C (p.Thr125Pro) c.847A>C (p.Thr283Pro) c.820A>C (p.Thr274Pro) n.15A>C c.970A>C (p.Thr324Pro) c.121A>C (p.Thr41Pro) | |
| 22 | g.19765093A>G | CA410683517 | TBX1 | c.373A>G (p.Thr125Ala) c.847A>G (p.Thr283Ala) c.820A>G (p.Thr274Ala) n.15A>G c.970A>G (p.Thr324Ala) c.121A>G (p.Thr41Ala) | |
| 22 | g.19765093A>T | CA410683518 | TBX1 | c.373A>T (p.Thr125Ser) c.847A>T (p.Thr283Ser) c.820A>T (p.Thr274Ser) n.15A>T c.970A>T (p.Thr324Ser) c.121A>T (p.Thr41Ser) | |
| 22 | g.19765094C>A | CA410683520 | TBX1 | c.374C>A (p.Thr125Asn) c.848C>A (p.Thr283Asn) c.821C>A (p.Thr274Asn) n.16C>A c.971C>A (p.Thr324Asn) c.122C>A (p.Thr41Asn) | |
| 22 | g.19765094C>G | CA410683521 | TBX1 | c.374C>G (p.Thr125Ser) c.848C>G (p.Thr283Ser) c.821C>G (p.Thr274Ser) n.16C>G c.971C>G (p.Thr324Ser) c.122C>G (p.Thr41Ser) | ClinVar dbSNP |
| 22 | g.19765094C>T | CA410683519 | TBX1 | c.374C>T (p.Thr125Ile) c.848C>T (p.Thr283Ile) c.821C>T (p.Thr274Ile) n.16C>T c.971C>T (p.Thr324Ile) c.122C>T (p.Thr41Ile) | |
| 22 | g.19765095T>A | CA513361438 | TBX1 | c.375T>A (p.Thr125=) c.849T>A (p.Thr283=) c.822T>A (p.Thr274=) n.17T>A c.972T>A (p.Thr324=) c.123T>A (p.Thr41=) | |
| 22 | g.19765095T>C | CA10102572 | TBX1 | c.375T>C (p.Thr125=) c.849T>C (p.Thr283=) c.822T>C (p.Thr274=) n.17T>C c.972T>C (p.Thr324=) c.123T>C (p.Thr41=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19765095T>G | CA513361439 | TBX1 | c.375T>G (p.Thr125=) c.849T>G (p.Thr283=) c.822T>G (p.Thr274=) n.17T>G c.972T>G (p.Thr324=) c.123T>G (p.Thr41=) | |
| 22 | g.19765095T= | CA2396031467 | TBX1 | c.375T= (p.Thr125=) c.849T= (p.Thr283=) c.822T= (p.Thr274=) n.17T= c.972T= (p.Thr324=) c.123T= (p.Thr41=) | |
| 22 | g.19765096G>A | CA410683522 | TBX1 | c.376G>A (p.Ala126Thr) c.850G>A (p.Ala284Thr) c.823G>A (p.Ala275Thr) n.18G>A c.973G>A (p.Ala325Thr) c.124G>A (p.Ala42Thr) | |
| 22 | g.19765096G>C | CA410683524 | TBX1 | c.376G>C (p.Ala126Pro) c.850G>C (p.Ala284Pro) c.823G>C (p.Ala275Pro) n.18G>C c.973G>C (p.Ala325Pro) c.124G>C (p.Ala42Pro) | |
| 22 | g.19765096G>T | CA410683523 | TBX1 | c.376G>T (p.Ala126Ser) c.850G>T (p.Ala284Ser) c.823G>T (p.Ala275Ser) n.18G>T c.973G>T (p.Ala325Ser) c.124G>T (p.Ala42Ser) | |
| 22 | g.19765097C>A | CA410683525 | TBX1 | c.377C>A (p.Ala126Asp) c.851C>A (p.Ala284Asp) c.824C>A (p.Ala275Asp) n.19C>A c.974C>A (p.Ala325Asp) c.125C>A (p.Ala42Asp) | |
| 22 | g.19765097C>G | CA410683526 | TBX1 | c.377C>G (p.Ala126Gly) c.851C>G (p.Ala284Gly) c.824C>G (p.Ala275Gly) n.19C>G c.974C>G (p.Ala325Gly) c.125C>G (p.Ala42Gly) | |
| 22 | g.19765097C>T | CA410683527 | TBX1 | c.377C>T (p.Ala126Val) c.851C>T (p.Ala284Val) c.824C>T (p.Ala275Val) n.19C>T c.974C>T (p.Ala325Val) c.125C>T (p.Ala42Val) | ClinVar dbSNP |
| 22 | g.19765098C>A | CA513361440 | TBX1 | c.378C>A (p.Ala126=) c.852C>A (p.Ala284=) c.825C>A (p.Ala275=) n.20C>A c.975C>A (p.Ala325=) c.126C>A (p.Ala42=) | |
| 22 | g.19765098C>G | CA513361441 | TBX1 | c.378C>G (p.Ala126=) c.852C>G (p.Ala284=) c.825C>G (p.Ala275=) n.20C>G c.975C>G (p.Ala325=) c.126C>G (p.Ala42=) | |
| 22 | g.19765098C>T | CA513361442 | TBX1 | c.378C>T (p.Ala126=) c.852C>T (p.Ala284=) c.825C>T (p.Ala275=) n.20C>T c.975C>T (p.Ala325=) c.126C>T (p.Ala42=) | |
| 22 | g.19765099T>A | CA410683528 | TBX1 | c.379T>A (p.Tyr127Asn) c.853T>A (p.Tyr285Asn) c.826T>A (p.Tyr276Asn) n.21T>A c.976T>A (p.Tyr326Asn) c.127T>A (p.Tyr43Asn) | |
| 22 | g.19765099T>C | CA410683529 | TBX1 | c.379T>C (p.Tyr127His) c.853T>C (p.Tyr285His) c.826T>C (p.Tyr276His) n.21T>C c.976T>C (p.Tyr326His) c.127T>C (p.Tyr43His) | |
| 22 | g.19765099T>G | CA410683530 | TBX1 | c.379T>G (p.Tyr127Asp) c.853T>G (p.Tyr285Asp) c.826T>G (p.Tyr276Asp) n.21T>G c.976T>G (p.Tyr326Asp) c.127T>G (p.Tyr43Asp) | |
| 22 | g.19765100A>C | CA410683533 | TBX1 | c.380A>C (p.Tyr127Ser) c.854A>C (p.Tyr285Ser) c.827A>C (p.Tyr276Ser) n.22A>C c.977A>C (p.Tyr326Ser) c.128A>C (p.Tyr43Ser) | |
| 22 | g.19765100A>G | CA410683531 | TBX1 | c.380A>G (p.Tyr127Cys) c.854A>G (p.Tyr285Cys) c.827A>G (p.Tyr276Cys) n.22A>G c.977A>G (p.Tyr326Cys) c.128A>G (p.Tyr43Cys) | |
| 22 | g.19765100A>T | CA410683532 | TBX1 | c.380A>T (p.Tyr127Phe) c.854A>T (p.Tyr285Phe) c.827A>T (p.Tyr276Phe) n.22A>T c.977A>T (p.Tyr326Phe) c.128A>T (p.Tyr43Phe) | |
| 22 | g.19765101C>A | CA410683534 | TBX1 | c.381C>A (p.Tyr127Ter) c.855C>A (p.Tyr285Ter) c.828C>A (p.Tyr276Ter) n.23C>A c.978C>A (p.Tyr326Ter) c.129C>A (p.Tyr43Ter) | |
| 22 | g.19765101C>G | CA410683535 | TBX1 | c.381C>G (p.Tyr127Ter) c.855C>G (p.Tyr285Ter) c.828C>G (p.Tyr276Ter) n.23C>G c.978C>G (p.Tyr326Ter) c.129C>G (p.Tyr43Ter) | COSMIC |
| 22 | g.19765101C>T | CA513361443 | TBX1 | c.381C>T (p.Tyr127=) c.855C>T (p.Tyr285=) c.828C>T (p.Tyr276=) n.23C>T c.978C>T (p.Tyr326=) c.129C>T (p.Tyr43=) | gnomAD v4 |
| 22 | g.19765102dup | CA2988384672 | TBX1 | c.382dup (p.Gln128ProfsTer23) c.856dup (p.Gln286ProfsTer23) c.829dup (p.Gln277ProfsTer23) n.24dup c.979dup (p.Gln327ProfsTer23) c.130dup (p.Gln44ProfsTer?) | |
| 22 | g.19765102C>A | CA10102573 | TBX1 | c.382C>A (p.Gln128Lys) c.856C>A (p.Gln286Lys) c.829C>A (p.Gln277Lys) n.24C>A c.979C>A (p.Gln327Lys) c.130C>A (p.Gln44Lys) | dbSNP ExAC gnomAD v2 |
| 22 | g.19765102C= | CA2396031468 | TBX1 | c.382C= (p.Gln128=) c.856C= (p.Gln286=) c.829C= (p.Gln277=) n.24C= c.979C= (p.Gln327=) c.130C= (p.Gln44=) | |
| 22 | g.19765102C>G | CA410683536 | TBX1 | c.382C>G (p.Gln128Glu) c.856C>G (p.Gln286Glu) c.829C>G (p.Gln277Glu) n.24C>G c.979C>G (p.Gln327Glu) c.130C>G (p.Gln44Glu) | |
| 22 | g.19765102C>T | CA410683537 | TBX1 | c.382C>T (p.Gln128Ter) c.856C>T (p.Gln286Ter) c.829C>T (p.Gln277Ter) n.24C>T c.979C>T (p.Gln327Ter) c.130C>T (p.Gln44Ter) | |
| 22 | g.19765103A>C | CA410683538 | TBX1 | c.383A>C (p.Gln128Pro) c.857A>C (p.Gln286Pro) c.830A>C (p.Gln277Pro) n.25A>C c.980A>C (p.Gln327Pro) c.131A>C (p.Gln44Pro) | |
| 22 | g.19765103A>G | CA410683540 | TBX1 | c.383A>G (p.Gln128Arg) c.857A>G (p.Gln286Arg) c.830A>G (p.Gln277Arg) n.25A>G c.980A>G (p.Gln327Arg) c.131A>G (p.Gln44Arg) | ClinVar |
| 22 | g.19765103A>T | CA410683539 | TBX1 | c.383A>T (p.Gln128Leu) c.857A>T (p.Gln286Leu) c.830A>T (p.Gln277Leu) n.25A>T c.980A>T (p.Gln327Leu) c.131A>T (p.Gln44Leu) | |
| 22 | g.19765104G>A | CA513361444 | TBX1 | c.384G>A (p.Gln128=) c.858G>A (p.Gln286=) c.831G>A (p.Gln277=) n.26G>A c.981G>A (p.Gln327=) c.132G>A (p.Gln44=) |