UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19765069G>A | CA10102563 | TBX1 | c.349G>A (p.Glu117Lys) c.823G>A (p.Glu275Lys) c.796G>A (p.Glu266Lys) c.946G>A (p.Glu316Lys) c.97G>A (p.Glu33Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.19765069G>C | CA10102564 | TBX1 | c.349G>C (p.Glu117Gln) c.823G>C (p.Glu275Gln) c.796G>C (p.Glu266Gln) c.946G>C (p.Glu316Gln) c.97G>C (p.Glu33Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19765069G= | CA2396031456 | TBX1 | c.349G= (p.Glu117=) c.823G= (p.Glu275=) c.796G= (p.Glu266=) c.946G= (p.Glu316=) c.97G= (p.Glu33=) | |
| 22 | g.19765069G>T | CA16621036 | TBX1 | c.349G>T (p.Glu117Ter) c.823G>T (p.Glu275Ter) c.796G>T (p.Glu266Ter) c.946G>T (p.Glu316Ter) c.97G>T (p.Glu33Ter) | ClinVar dbSNP |
| 22 | g.19765070A>C | CA410683469 | TBX1 | c.350A>C (p.Glu117Ala) c.824A>C (p.Glu275Ala) c.797A>C (p.Glu266Ala) c.947A>C (p.Glu316Ala) c.98A>C (p.Glu33Ala) | |
| 22 | g.19765070A>G | CA410683470 | TBX1 | c.350A>G (p.Glu117Gly) c.824A>G (p.Glu275Gly) c.797A>G (p.Glu266Gly) c.947A>G (p.Glu316Gly) c.98A>G (p.Glu33Gly) | |
| 22 | g.19765070A>T | CA410683471 | TBX1 | c.350A>T (p.Glu117Val) c.824A>T (p.Glu275Val) c.797A>T (p.Glu266Val) c.947A>T (p.Glu316Val) c.98A>T (p.Glu33Val) | |
| 22 | g.19765071G>A | CA10102565 | TBX1 | c.351G>A (p.Glu117=) c.825G>A (p.Glu275=) c.798G>A (p.Glu266=) c.948G>A (p.Glu316=) c.99G>A (p.Glu33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19765071G>C | CA410683472 | TBX1 | c.351G>C (p.Glu117Asp) c.825G>C (p.Glu275Asp) c.798G>C (p.Glu266Asp) c.948G>C (p.Glu316Asp) c.99G>C (p.Glu33Asp) | |
| 22 | g.19765071G= | CA2396031457 | TBX1 | c.351G= (p.Glu117=) c.825G= (p.Glu275=) c.798G= (p.Glu266=) c.948G= (p.Glu316=) c.99G= (p.Glu33=) | |
| 22 | g.19765071G>T | CA410683473 | TBX1 | c.351G>T (p.Glu117Asp) c.825G>T (p.Glu275Asp) c.798G>T (p.Glu266Asp) c.948G>T (p.Glu316Asp) c.99G>T (p.Glu33Asp) | |
| 22 | g.19765072G>A | CA410683474 | TBX1 | c.352G>A (p.Glu118Lys) c.826G>A (p.Glu276Lys) c.799G>A (p.Glu267Lys) c.949G>A (p.Glu317Lys) c.100G>A (p.Glu34Lys) | |
| 22 | g.19765072G>C | CA410683475 | TBX1 | c.352G>C (p.Glu118Gln) c.826G>C (p.Glu276Gln) c.799G>C (p.Glu267Gln) c.949G>C (p.Glu317Gln) c.100G>C (p.Glu34Gln) | |
| 22 | g.19765072G>T | CA410683476 | TBX1 | c.352G>T (p.Glu118Ter) c.826G>T (p.Glu276Ter) c.799G>T (p.Glu267Ter) c.949G>T (p.Glu317Ter) c.100G>T (p.Glu34Ter) | |
| 22 | g.19765073A>C | CA410683477 | TBX1 | c.353A>C (p.Glu118Ala) c.827A>C (p.Glu276Ala) c.800A>C (p.Glu267Ala) c.950A>C (p.Glu317Ala) c.101A>C (p.Glu34Ala) | |
| 22 | g.19765073A>G | CA410683478 | TBX1 | c.353A>G (p.Glu118Gly) c.827A>G (p.Glu276Gly) c.800A>G (p.Glu267Gly) c.950A>G (p.Glu317Gly) c.101A>G (p.Glu34Gly) | |
| 22 | g.19765073A>T | CA410683479 | TBX1 | c.353A>T (p.Glu118Val) c.827A>T (p.Glu276Val) c.800A>T (p.Glu267Val) c.950A>T (p.Glu317Val) c.101A>T (p.Glu34Val) | |
| 22 | g.19765074G>A | CA513361423 | TBX1 | c.354G>A (p.Glu118=) c.828G>A (p.Glu276=) c.801G>A (p.Glu267=) c.951G>A (p.Glu317=) c.102G>A (p.Glu34=) | gnomAD v4 |
| 22 | g.19765074G>C | CA410683480 | TBX1 | c.354G>C (p.Glu118Asp) c.828G>C (p.Glu276Asp) c.801G>C (p.Glu267Asp) c.951G>C (p.Glu317Asp) c.102G>C (p.Glu34Asp) | |
| 22 | g.19765074G>T | CA410683481 | TBX1 | c.354G>T (p.Glu118Asp) c.828G>T (p.Glu276Asp) c.801G>T (p.Glu267Asp) c.951G>T (p.Glu317Asp) c.102G>T (p.Glu34Asp) | |
| 22 | g.19765075A>C | CA410683482 | TBX1 | c.355A>C (p.Thr119Pro) c.829A>C (p.Thr277Pro) c.802A>C (p.Thr268Pro) c.952A>C (p.Thr318Pro) c.103A>C (p.Thr35Pro) | |
| 22 | g.19765075A>G | CA410683483 | TBX1 | c.355A>G (p.Thr119Ala) c.829A>G (p.Thr277Ala) c.802A>G (p.Thr268Ala) c.952A>G (p.Thr318Ala) c.103A>G (p.Thr35Ala) | |
| 22 | g.19765075A>T | CA410683484 | TBX1 | c.355A>T (p.Thr119Ser) c.829A>T (p.Thr277Ser) c.802A>T (p.Thr268Ser) c.952A>T (p.Thr318Ser) c.103A>T (p.Thr35Ser) | |
| 22 | g.19765076C>A | CA410683485 | TBX1 | c.356C>A (p.Thr119Lys) c.830C>A (p.Thr277Lys) c.803C>A (p.Thr268Lys) c.953C>A (p.Thr318Lys) c.104C>A (p.Thr35Lys) | |
| 22 | g.19765076C= | CA2396031458 | TBX1 | c.356C= (p.Thr119=) c.830C= (p.Thr277=) c.803C= (p.Thr268=) c.953C= (p.Thr318=) c.104C= (p.Thr35=) | |
| 22 | g.19765076C>G | CA410683486 | TBX1 | c.356C>G (p.Thr119Arg) c.830C>G (p.Thr277Arg) c.803C>G (p.Thr268Arg) c.953C>G (p.Thr318Arg) c.104C>G (p.Thr35Arg) | |
| 22 | g.19765076C>T | CA410683487 | TBX1 | c.356C>T (p.Thr119Ile) c.830C>T (p.Thr277Ile) c.803C>T (p.Thr268Ile) c.953C>T (p.Thr318Ile) c.104C>T (p.Thr35Ile) | dbSNP |
| 22 | g.19765077A= | CA2396031459 | TBX1 | c.357A= (p.Thr119=) c.831A= (p.Thr277=) c.804A= (p.Thr268=) c.954A= (p.Thr318=) c.105A= (p.Thr35=) | |
| 22 | g.19765077A>C | CA513361424 | TBX1 | c.357A>C (p.Thr119=) c.831A>C (p.Thr277=) c.804A>C (p.Thr268=) c.954A>C (p.Thr318=) c.105A>C (p.Thr35=) | |
| 22 | g.19765077A>G | CA513361425 | TBX1 | c.357A>G (p.Thr119=) c.831A>G (p.Thr277=) c.804A>G (p.Thr268=) c.954A>G (p.Thr318=) c.105A>G (p.Thr35=) | dbSNP gnomAD v4 |
| 22 | g.19765077A>T | CA513361426 | TBX1 | c.357A>T (p.Thr119=) c.831A>T (p.Thr277=) c.804A>T (p.Thr268=) c.954A>T (p.Thr318=) c.105A>T (p.Thr35=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19765078C>A | CA513361427 | TBX1 | c.358C>A (p.Arg120=) c.832C>A (p.Arg278=) c.805C>A (p.Arg269=) c.955C>A (p.Arg319=) c.106C>A (p.Arg36=) | |
| 22 | g.19765078C>G | CA410683488 | TBX1 | c.358C>G (p.Arg120Gly) c.832C>G (p.Arg278Gly) c.805C>G (p.Arg269Gly) c.955C>G (p.Arg319Gly) c.106C>G (p.Arg36Gly) | |
| 22 | g.19765078C>T | CA410683489 | TBX1 | c.358C>T (p.Arg120Ter) c.832C>T (p.Arg278Ter) c.805C>T (p.Arg269Ter) c.955C>T (p.Arg319Ter) c.106C>T (p.Arg36Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
| 22 | g.19765079G>A | CA410683490 | TBX1 | c.359G>A (p.Arg120Gln) c.833G>A (p.Arg278Gln) c.806G>A (p.Arg269Gln) n.1G>A c.956G>A (p.Arg319Gln) c.107G>A (p.Arg36Gln) | dbSNP gnomAD v4 |
| 22 | g.19765079G>C | CA410683491 | TBX1 | c.359G>C (p.Arg120Pro) c.833G>C (p.Arg278Pro) c.806G>C (p.Arg269Pro) n.1G>C c.956G>C (p.Arg319Pro) c.107G>C (p.Arg36Pro) | |
| 22 | g.19765079G= | CA2396031460 | TBX1 | c.359G= (p.Arg120=) c.833G= (p.Arg278=) c.806G= (p.Arg269=) n.1G= c.956G= (p.Arg319=) c.107G= (p.Arg36=) | |
| 22 | g.19765079G>T | CA410683492 | TBX1 | c.359G>T (p.Arg120Leu) c.833G>T (p.Arg278Leu) c.806G>T (p.Arg269Leu) n.1G>T c.956G>T (p.Arg319Leu) c.107G>T (p.Arg36Leu) | |
| 22 | g.19765080A>C | CA513361428 | TBX1 | c.360A>C (p.Arg120=) c.834A>C (p.Arg278=) c.807A>C (p.Arg269=) n.2A>C c.957A>C (p.Arg319=) c.108A>C (p.Arg36=) | |
| 22 | g.19765080A>G | CA513361429 | TBX1 | c.360A>G (p.Arg120=) c.834A>G (p.Arg278=) c.807A>G (p.Arg269=) n.2A>G c.957A>G (p.Arg319=) c.108A>G (p.Arg36=) | |
| 22 | g.19765080A>T | CA513361430 | TBX1 | c.360A>T (p.Arg120=) c.834A>T (p.Arg278=) c.807A>T (p.Arg269=) n.2A>T c.957A>T (p.Arg319=) c.108A>T (p.Arg36=) | |
| 22 | g.19765081T>A | CA410683494 | TBX1 | c.361T>A (p.Phe121Ile) c.835T>A (p.Phe279Ile) c.808T>A (p.Phe270Ile) n.3T>A c.958T>A (p.Phe320Ile) c.109T>A (p.Phe37Ile) | |
| 22 | g.19765081T>C | CA410683495 | TBX1 | c.361T>C (p.Phe121Leu) c.835T>C (p.Phe279Leu) c.808T>C (p.Phe270Leu) n.3T>C c.958T>C (p.Phe320Leu) c.109T>C (p.Phe37Leu) | |
| 22 | g.19765081T>G | CA410683493 | TBX1 | c.361T>G (p.Phe121Val) c.835T>G (p.Phe279Val) c.808T>G (p.Phe270Val) n.3T>G c.958T>G (p.Phe320Val) c.109T>G (p.Phe37Val) | |
| 22 | g.19765082T>A | CA410683496 | TBX1 | c.362T>A (p.Phe121Tyr) c.836T>A (p.Phe279Tyr) c.809T>A (p.Phe270Tyr) n.4T>A c.959T>A (p.Phe320Tyr) c.110T>A (p.Phe37Tyr) | |
| 22 | g.19765082T>C | CA410683497 | TBX1 | c.362T>C (p.Phe121Ser) c.836T>C (p.Phe279Ser) c.809T>C (p.Phe270Ser) n.4T>C c.959T>C (p.Phe320Ser) c.110T>C (p.Phe37Ser) | |
| 22 | g.19765082T>G | CA410683498 | TBX1 | c.362T>G (p.Phe121Cys) c.836T>G (p.Phe279Cys) c.809T>G (p.Phe270Cys) n.4T>G c.959T>G (p.Phe320Cys) c.110T>G (p.Phe37Cys) | |
| 22 | g.19765083C>A | CA410683499 | TBX1 | c.363C>A (p.Phe121Leu) c.837C>A (p.Phe279Leu) c.810C>A (p.Phe270Leu) n.5C>A c.960C>A (p.Phe320Leu) c.111C>A (p.Phe37Leu) | |
| 22 | g.19765083C= | CA2396031461 | TBX1 | c.363C= (p.Phe121=) c.837C= (p.Phe279=) c.810C= (p.Phe270=) n.5C= c.960C= (p.Phe320=) c.111C= (p.Phe37=) | |
| 22 | g.19765083C>G | CA410683500 | TBX1 | c.363C>G (p.Phe121Leu) c.837C>G (p.Phe279Leu) c.810C>G (p.Phe270Leu) n.5C>G c.960C>G (p.Phe320Leu) c.111C>G (p.Phe37Leu) | dbSNP gnomAD v2 |