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.19764969T>A | CA410683233 | TBX1 | c.249T>A (p.Asn83Lys) c.723T>A (p.Asn241Lys) c.696T>A (p.Asn232Lys) c.846T>A (p.Asn282Lys) c.-4T>A (n.-4T>A) | |
| 22 | g.19764969T>C | CA513361368 | TBX1 | c.249T>C (p.Asn83=) c.723T>C (p.Asn241=) c.696T>C (p.Asn232=) c.846T>C (p.Asn282=) c.-4T>C (n.-4T>C) | |
| 22 | g.19764969T>G | CA410683234 | TBX1 | c.249T>G (p.Asn83Lys) c.723T>G (p.Asn241Lys) c.696T>G (p.Asn232Lys) c.846T>G (p.Asn282Lys) c.-4T>G (n.-4T>G) | |
| 22 | g.19764970T>A | CA410683235 | TBX1 | c.250T>A (p.Ser84Thr) c.724T>A (p.Ser242Thr) c.697T>A (p.Ser233Thr) c.847T>A (p.Ser283Thr) c.-3T>A (n.-3T>A) | |
| 22 | g.19764970T>C | CA410683236 | TBX1 | c.250T>C (p.Ser84Pro) c.724T>C (p.Ser242Pro) c.697T>C (p.Ser233Pro) c.847T>C (p.Ser283Pro) c.-3T>C (n.-3T>C) | |
| 22 | g.19764970T>G | CA410683237 | TBX1 | c.250T>G (p.Ser84Ala) c.724T>G (p.Ser242Ala) c.697T>G (p.Ser233Ala) c.847T>G (p.Ser283Ala) c.-3T>G (n.-3T>G) | |
| 22 | g.19764971C>A | CA410683240 | TBX1 | c.251C>A (p.Ser84Tyr) c.725C>A (p.Ser242Tyr) c.698C>A (p.Ser233Tyr) c.848C>A (p.Ser283Tyr) c.-2C>A (n.-2C>A) | |
| 22 | g.19764971C>G | CA410683239 | TBX1 | c.251C>G (p.Ser84Cys) c.725C>G (p.Ser242Cys) c.698C>G (p.Ser233Cys) c.848C>G (p.Ser283Cys) c.-2C>G (n.-2C>G) | |
| 22 | g.19764971C>T | CA410683238 | TBX1 | c.251C>T (p.Ser84Phe) c.725C>T (p.Ser242Phe) c.698C>T (p.Ser233Phe) c.848C>T (p.Ser283Phe) c.-2C>T (n.-2C>T) | COSMIC COSMIC COSMIC |
| 22 | g.19764972C>A | CA513361370 | TBX1 | c.252C>A (p.Ser84=) c.726C>A (p.Ser242=) c.699C>A (p.Ser233=) c.849C>A (p.Ser283=) c.-1C>A (n.-1C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19764972C= | CA2396031419 | TBX1 | c.252C= (p.Ser84=) c.726C= (p.Ser242=) c.699C= (p.Ser233=) c.849C= (p.Ser283=) c.-1C= (n.-1C=) | |
| 22 | g.19764972C>G | CA513361372 | TBX1 | c.252C>G (p.Ser84=) c.726C>G (p.Ser242=) c.699C>G (p.Ser233=) c.849C>G (p.Ser283=) c.-1C>G (n.-1C>G) | |
| 22 | g.19764972C>T | CA513361374 | TBX1 | c.252C>T (p.Ser84=) c.726C>T (p.Ser242=) c.699C>T (p.Ser233=) c.849C>T (p.Ser283=) c.-1C>T (n.-1C>T) | |
| 22 | g.19764973A>C | CA410683241 | TBX1 | c.253A>C (p.Met85Leu) c.727A>C (p.Met243Leu) c.700A>C (p.Met234Leu) c.850A>C (p.Met284Leu) c.1A>C (p.Met1Leu) | |
| 22 | g.19764973A>G | CA410683242 | TBX1 | c.253A>G (p.Met85Val) c.727A>G (p.Met243Val) c.700A>G (p.Met234Val) c.850A>G (p.Met284Val) c.1A>G (p.Met1Val) | |
| 22 | g.19764973A>T | CA410683243 | TBX1 | c.253A>T (p.Met85Leu) c.727A>T (p.Met243Leu) c.700A>T (p.Met234Leu) c.850A>T (p.Met284Leu) c.1A>T (p.Met1Leu) | |
| 22 | g.19764974T>A | CA410683244 | TBX1 | c.254T>A (p.Met85Lys) c.728T>A (p.Met243Lys) c.701T>A (p.Met234Lys) c.851T>A (p.Met284Lys) c.2T>A (p.Met1Lys) | |
| 22 | g.19764974T>C | CA410683245 | TBX1 | c.254T>C (p.Met85Thr) c.728T>C (p.Met243Thr) c.701T>C (p.Met234Thr) c.851T>C (p.Met284Thr) c.2T>C (p.Met1Thr) | |
| 22 | g.19764974T>G | CA410683246 | TBX1 | c.254T>G (p.Met85Arg) c.728T>G (p.Met243Arg) c.701T>G (p.Met234Arg) c.851T>G (p.Met284Arg) c.2T>G (p.Met1Arg) | |
| 22 | g.19764975G>A | CA410683247 | TBX1 | c.255G>A (p.Met85Ile) c.729G>A (p.Met243Ile) c.702G>A (p.Met234Ile) c.852G>A (p.Met284Ile) c.3G>A (p.Met1Ile) | |
| 22 | g.19764975G>C | CA410683248 | TBX1 | c.255G>C (p.Met85Ile) c.729G>C (p.Met243Ile) c.702G>C (p.Met234Ile) c.852G>C (p.Met284Ile) c.3G>C (p.Met1Ile) | |
| 22 | g.19764975G>T | CA410683249 | TBX1 | c.255G>T (p.Met85Ile) c.729G>T (p.Met243Ile) c.702G>T (p.Met234Ile) c.852G>T (p.Met284Ile) c.3G>T (p.Met1Ile) | |
| 22 | g.19764976C>A | CA410683250 | TBX1 | c.256C>A (p.His86Asn) c.730C>A (p.His244Asn) c.703C>A (p.His235Asn) c.853C>A (p.His285Asn) c.4C>A (p.His2Asn) | |
| 22 | g.19764976C>G | CA410683251 | TBX1 | c.256C>G (p.His86Asp) c.730C>G (p.His244Asp) c.703C>G (p.His235Asp) c.853C>G (p.His285Asp) c.4C>G (p.His2Asp) | |
| 22 | g.19764976C>T | CA410683252 | TBX1 | c.256C>T (p.His86Tyr) c.730C>T (p.His244Tyr) c.703C>T (p.His235Tyr) c.853C>T (p.His285Tyr) c.4C>T (p.His2Tyr) | |
| 22 | g.19764977A>C | CA410683254 | TBX1 | c.257A>C (p.His86Pro) c.731A>C (p.His244Pro) c.704A>C (p.His235Pro) c.854A>C (p.His285Pro) c.5A>C (p.His2Pro) | |
| 22 | g.19764977A>G | CA410683255 | TBX1 | c.257A>G (p.His86Arg) c.731A>G (p.His244Arg) c.704A>G (p.His235Arg) c.854A>G (p.His285Arg) c.5A>G (p.His2Arg) | |
| 22 | g.19764977A>T | CA410683253 | TBX1 | c.257A>T (p.His86Leu) c.731A>T (p.His244Leu) c.704A>T (p.His235Leu) c.854A>T (p.His285Leu) c.5A>T (p.His2Leu) | |
| 22 | g.19764978C>A | CA410683256 | TBX1 | c.258C>A (p.His86Gln) c.732C>A (p.His244Gln) c.705C>A (p.His235Gln) c.855C>A (p.His285Gln) c.6C>A (p.His2Gln) | |
| 22 | g.19764978C= | CA2396031420 | TBX1 | c.258C= (p.His86=) c.732C= (p.His244=) c.705C= (p.His235=) c.855C= (p.His285=) c.6C= (p.His2=) | |
| 22 | g.19764978C>G | CA410683257 | TBX1 | c.258C>G (p.His86Gln) c.732C>G (p.His244Gln) c.705C>G (p.His235Gln) c.855C>G (p.His285Gln) c.6C>G (p.His2Gln) | |
| 22 | g.19764978C>T | CA513361376 | TBX1 | c.258C>T (p.His86=) c.732C>T (p.His244=) c.705C>T (p.His235=) c.855C>T (p.His285=) c.6C>T (p.His2=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19764979A>C | CA513361377 | TBX1 | c.259A>C (p.Arg87=) c.733A>C (p.Arg245=) c.706A>C (p.Arg236=) c.856A>C (p.Arg286=) c.7A>C (p.Arg3=) | |
| 22 | g.19764979A>G | CA410683258 | TBX1 | c.259A>G (p.Arg87Gly) c.733A>G (p.Arg245Gly) c.706A>G (p.Arg236Gly) c.856A>G (p.Arg286Gly) c.7A>G (p.Arg3Gly) | gnomAD v4 |
| 22 | g.19764979A>T | CA410683259 | TBX1 | c.259A>T (p.Arg87Ter) c.733A>T (p.Arg245Ter) c.706A>T (p.Arg236Ter) c.856A>T (p.Arg286Ter) c.7A>T (p.Arg3Ter) | |
| 22 | g.19764980G>A | CA410683260 | TBX1 | c.260G>A (p.Arg87Lys) c.734G>A (p.Arg245Lys) c.707G>A (p.Arg236Lys) c.857G>A (p.Arg286Lys) c.8G>A (p.Arg3Lys) | |
| 22 | g.19764980G>C | CA410683261 | TBX1 | c.260G>C (p.Arg87Thr) c.734G>C (p.Arg245Thr) c.707G>C (p.Arg236Thr) c.857G>C (p.Arg286Thr) c.8G>C (p.Arg3Thr) | |
| 22 | g.19764980G>T | CA410683262 | TBX1 | c.260G>T (p.Arg87Ile) c.734G>T (p.Arg245Ile) c.707G>T (p.Arg236Ile) c.857G>T (p.Arg286Ile) c.8G>T (p.Arg3Ile) | gnomAD v4 |
| 22 | g.19764981A= | CA2396031421 | TBX1 | c.261A= (p.Arg87=) c.735A= (p.Arg245=) c.708A= (p.Arg236=) c.858A= (p.Arg286=) c.9A= (p.Arg3=) | |
| 22 | g.19764981A>C | CA410683263 | TBX1 | c.261A>C (p.Arg87Ser) c.735A>C (p.Arg245Ser) c.708A>C (p.Arg236Ser) c.858A>C (p.Arg286Ser) c.9A>C (p.Arg3Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19764981A>G | CA513361378 | TBX1 | c.261A>G (p.Arg87=) c.735A>G (p.Arg245=) c.708A>G (p.Arg236=) c.858A>G (p.Arg286=) c.9A>G (p.Arg3=) | |
| 22 | g.19764981A>T | CA410683264 | TBX1 | c.261A>T (p.Arg87Ser) c.735A>T (p.Arg245Ser) c.708A>T (p.Arg236Ser) c.858A>T (p.Arg286Ser) c.9A>T (p.Arg3Ser) | |
| 22 | g.19764982T>A | CA410683265 | TBX1 | c.262T>A (p.Tyr88Asn) c.736T>A (p.Tyr246Asn) c.709T>A (p.Tyr237Asn) c.859T>A (p.Tyr287Asn) c.10T>A (p.Tyr4Asn) | |
| 22 | g.19764982T>C | CA410683266 | TBX1 | c.262T>C (p.Tyr88His) c.736T>C (p.Tyr246His) c.709T>C (p.Tyr237His) c.859T>C (p.Tyr287His) c.10T>C (p.Tyr4His) | ClinVar gnomAD v4 |
| 22 | g.19764982T>G | CA410683267 | TBX1 | c.262T>G (p.Tyr88Asp) c.736T>G (p.Tyr246Asp) c.709T>G (p.Tyr237Asp) c.859T>G (p.Tyr287Asp) c.10T>G (p.Tyr4Asp) | |
| 22 | g.19764983A= | CA2396031422 | TBX1 | c.263A= (p.Tyr88=) c.737A= (p.Tyr246=) c.710A= (p.Tyr237=) c.860A= (p.Tyr287=) c.11A= (p.Tyr4=) | |
| 22 | g.19764983A>C | CA410683269 | TBX1 | c.263A>C (p.Tyr88Ser) c.737A>C (p.Tyr246Ser) c.710A>C (p.Tyr237Ser) c.860A>C (p.Tyr287Ser) c.11A>C (p.Tyr4Ser) | |
| 22 | g.19764983A>G | CA410683270 | TBX1 | c.263A>G (p.Tyr88Cys) c.737A>G (p.Tyr246Cys) c.710A>G (p.Tyr237Cys) c.860A>G (p.Tyr287Cys) c.11A>G (p.Tyr4Cys) | dbSNP |
| 22 | g.19764983A>T | CA410683268 | TBX1 | c.263A>T (p.Tyr88Phe) c.737A>T (p.Tyr246Phe) c.710A>T (p.Tyr237Phe) c.860A>T (p.Tyr287Phe) c.11A>T (p.Tyr4Phe) | |
| 22 | g.19764984C>A | CA410683271 | TBX1 | c.264C>A (p.Tyr88Ter) c.738C>A (p.Tyr246Ter) c.711C>A (p.Tyr237Ter) c.861C>A (p.Tyr287Ter) c.12C>A (p.Tyr4Ter) | gnomAD v4 |