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 |
|---|---|---|---|---|---|
| 3 | g.15644442_15644443delinsAC | CA1347663663 | BTD | c.526_527delinsAC (p.Thr176=) c.399+2385_399+2386delinsAC (n.399+2385_399+2386delinsAC) c.165+2385_165+2386delinsAC (n.165+2385_165+2386delinsAC) c.586_587delinsAC (p.Thr196=) c.592_593delinsAC (p.Thr198=) c.304_305delinsAC (p.Thr102=) c.*2304_*2305delinsAC (n.*2304_*2305delinsAC) | |
| 3 | g.15644443del | CA658796245 | BTD | c.527del (p.Thr176LysfsTer?) c.399+2386del (n.399+2386del) c.165+2386del (n.165+2386del) c.587del (p.Thr196LysfsTer?) c.593del (p.Thr198LysfsTer?) c.305del (p.Thr102LysfsTer?) c.*2305del (n.*2305del) | ClinVar dbSNP |
| 3 | g.15644443C>A | CA351606502 | BTD | c.527C>A (p.Thr176Lys) c.399+2386C>A (n.399+2386C>A) c.165+2386C>A (n.165+2386C>A) c.587C>A (p.Thr196Lys) c.593C>A (p.Thr198Lys) c.305C>A (p.Thr102Lys) c.*2305C>A (n.*2305C>A) | |
| 3 | g.15644443C= | CA1347663672 | BTD | c.527C= (p.Thr176=) c.399+2386C= (n.399+2386C=) c.165+2386C= (n.165+2386C=) c.587C= (p.Thr196=) c.593C= (p.Thr198=) c.305C= (p.Thr102=) c.*2305C= (n.*2305C=) | |
| 3 | g.15644443C>G | CA278229 | BTD | c.527C>G (p.Thr176Arg) c.399+2386C>G (n.399+2386C>G) c.165+2386C>G (n.165+2386C>G) c.587C>G (p.Thr196Arg) c.593C>G (p.Thr198Arg) c.305C>G (p.Thr102Arg) c.*2305C>G (n.*2305C>G) | dbSNP gnomAD v4 |
| 3 | g.15644443C>T | CA351606506 | BTD | c.527C>T (p.Thr176Ile) c.399+2386C>T (n.399+2386C>T) c.165+2386C>T (n.165+2386C>T) c.587C>T (p.Thr196Ile) c.593C>T (p.Thr198Ile) c.305C>T (p.Thr102Ile) c.*2305C>T (n.*2305C>T) | |
| 3 | g.15644443_15644458delinsCAAATGTCGTGTTCAG | CA1347663677 | BTD | c.527_542delinsCAAATGTCGTGTTCAG (p.Thr176=) c.399+2386_399+2401delinsCAAATGTCGTGTTCAG (n.399+2386_399+2401delinsCAAATGTCGTGTTCAG) c.165+2386_165+2401delinsCAAATGTCGTGTTCAG (n.165+2386_165+2401delinsCAAATGTCGTGTTCAG) c.587_602delinsCAAATGTCGTGTTCAG (p.Thr196=) c.593_608delinsCAAATGTCGTGTTCAG (p.Thr198=) c.305_320delinsCAAATGTCGTGTTCAG (p.Thr102=) c.*2305_*2320delinsCAAATGTCGTGTTCAG (n.*2305_*2320delinsCAAATGTCGTGTTCAG) | |
| 3 | g.15644444A>C | CA432819235 | BTD | c.528A>C (p.Thr176=) c.399+2387A>C (n.399+2387A>C) c.165+2387A>C (n.165+2387A>C) c.588A>C (p.Thr196=) c.594A>C (p.Thr198=) c.306A>C (p.Thr102=) c.*2306A>C (n.*2306A>C) | |
| 3 | g.15644444A>G | CA432819237 | BTD | c.528A>G (p.Thr176=) c.399+2387A>G (n.399+2387A>G) c.165+2387A>G (n.165+2387A>G) c.588A>G (p.Thr196=) c.594A>G (p.Thr198=) c.306A>G (p.Thr102=) c.*2306A>G (n.*2306A>G) | COSMIC |
| 3 | g.15644444A>T | CA432819238 | BTD | c.528A>T (p.Thr176=) c.399+2387A>T (n.399+2387A>T) c.165+2387A>T (n.165+2387A>T) c.588A>T (p.Thr196=) c.594A>T (p.Thr198=) c.306A>T (p.Thr102=) c.*2306A>T (n.*2306A>T) | |
| 3 | g.15644444_15644458del | CA915941880 | BTD | c.528_542del (p.Asn177_Ser181del) c.399+2387_399+2401del (n.399+2387_399+2401del) c.165+2387_165+2401del (n.165+2387_165+2401del) c.588_602del (p.Asn197_Ser201del) c.594_608del (p.Asn199_Ser203del) c.306_320del (p.Asn103_Ser107del) c.*2306_*2320del (n.*2306_*2320del) | ClinVar dbSNP |
| 3 | g.15644445A= | CA1347663687 | BTD | c.529A= (p.Asn177=) c.399+2388A= (n.399+2388A=) c.165+2388A= (n.165+2388A=) c.589A= (p.Asn197=) c.595A= (p.Asn199=) c.307A= (p.Asn103=) c.*2307A= (n.*2307A=) | |
| 3 | g.15644445A>C | CA351606508 | BTD | c.529A>C (p.Asn177His) c.399+2388A>C (n.399+2388A>C) c.165+2388A>C (n.165+2388A>C) c.589A>C (p.Asn197His) c.595A>C (p.Asn199His) c.307A>C (p.Asn103His) c.*2307A>C (n.*2307A>C) | |
| 3 | g.15644445A>G | CA2277344 | BTD | c.529A>G (p.Asn177Asp) c.399+2388A>G (n.399+2388A>G) c.165+2388A>G (n.165+2388A>G) c.589A>G (p.Asn197Asp) c.595A>G (p.Asn199Asp) c.307A>G (p.Asn103Asp) c.*2307A>G (n.*2307A>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644445A>T | CA351606511 | BTD | c.529A>T (p.Asn177Tyr) c.399+2388A>T (n.399+2388A>T) c.165+2388A>T (n.165+2388A>T) c.589A>T (p.Asn197Tyr) c.595A>T (p.Asn199Tyr) c.307A>T (p.Asn103Tyr) c.*2307A>T (n.*2307A>T) | dbSNP |
| 3 | g.15644446A>C | CA351606517 | BTD | c.530A>C (p.Asn177Thr) c.399+2389A>C (n.399+2389A>C) c.165+2389A>C (n.165+2389A>C) c.590A>C (p.Asn197Thr) c.596A>C (p.Asn199Thr) c.308A>C (p.Asn103Thr) c.*2308A>C (n.*2308A>C) | |
| 3 | g.15644446A>G | CA351606513 | BTD | c.530A>G (p.Asn177Ser) c.399+2389A>G (n.399+2389A>G) c.165+2389A>G (n.165+2389A>G) c.590A>G (p.Asn197Ser) c.596A>G (p.Asn199Ser) c.308A>G (p.Asn103Ser) c.*2308A>G (n.*2308A>G) | |
| 3 | g.15644446A>T | CA351606516 | BTD | c.530A>T (p.Asn177Ile) c.399+2389A>T (n.399+2389A>T) c.165+2389A>T (n.165+2389A>T) c.590A>T (p.Asn197Ile) c.596A>T (p.Asn199Ile) c.308A>T (p.Asn103Ile) c.*2308A>T (n.*2308A>T) | |
| 3 | g.15644447T>A | CA351606520 | BTD | c.531T>A (p.Asn177Lys) c.399+2390T>A (n.399+2390T>A) c.165+2390T>A (n.165+2390T>A) c.591T>A (p.Asn197Lys) c.597T>A (p.Asn199Lys) c.309T>A (p.Asn103Lys) c.*2309T>A (n.*2309T>A) | |
| 3 | g.15644447T>C | CA432819247 | BTD | c.531T>C (p.Asn177=) c.399+2390T>C (n.399+2390T>C) c.165+2390T>C (n.165+2390T>C) c.591T>C (p.Asn197=) c.597T>C (p.Asn199=) c.309T>C (p.Asn103=) c.*2309T>C (n.*2309T>C) | |
| 3 | g.15644447T>G | CA351606522 | BTD | c.531T>G (p.Asn177Lys) c.399+2390T>G (n.399+2390T>G) c.165+2390T>G (n.165+2390T>G) c.591T>G (p.Asn197Lys) c.597T>G (p.Asn199Lys) c.309T>G (p.Asn103Lys) c.*2309T>G (n.*2309T>G) | |
| 3 | g.15644447_15644450delinsTGTC | CA1347663689 | BTD | c.531_534delinsTGTC (p.Asn177=) c.399+2390_399+2393delinsTGTC (n.399+2390_399+2393delinsTGTC) c.165+2390_165+2393delinsTGTC (n.165+2390_165+2393delinsTGTC) c.591_594delinsTGTC (p.Asn197=) c.597_600delinsTGTC (p.Asn199=) c.309_312delinsTGTC (p.Asn103=) c.*2309_*2312delinsTGTC (n.*2309_*2312delinsTGTC) | |
| 3 | g.15644448G>A | CA2277345 | BTD | c.532G>A (p.Val178Ile) c.399+2391G>A (n.399+2391G>A) c.165+2391G>A (n.165+2391G>A) c.592G>A (p.Val198Ile) c.598G>A (p.Val200Ile) c.310G>A (p.Val104Ile) c.*2310G>A (n.*2310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644448G>C | CA351606525 | BTD | c.532G>C (p.Val178Leu) c.399+2391G>C (n.399+2391G>C) c.165+2391G>C (n.165+2391G>C) c.592G>C (p.Val198Leu) c.598G>C (p.Val200Leu) c.310G>C (p.Val104Leu) c.*2310G>C (n.*2310G>C) | |
| 3 | g.15644448G= | CA1347663696 | BTD | c.532G= (p.Val178=) c.399+2391G= (n.399+2391G=) c.165+2391G= (n.165+2391G=) c.592G= (p.Val198=) c.598G= (p.Val200=) c.310G= (p.Val104=) c.*2310G= (n.*2310G=) | |
| 3 | g.15644448G>T | CA351606527 | BTD | c.532G>T (p.Val178Phe) c.399+2391G>T (n.399+2391G>T) c.165+2391G>T (n.165+2391G>T) c.592G>T (p.Val198Phe) c.598G>T (p.Val200Phe) c.310G>T (p.Val104Phe) c.*2310G>T (n.*2310G>T) | gnomAD v4 |
| 3 | g.15644450_15644452del | CA278231 | BTD | c.534_536del (p.Val179del) c.399+2393_399+2395del (n.399+2393_399+2395del) c.165+2393_165+2395del (n.165+2393_165+2395del) c.594_596del (p.Val199del) c.600_602del (p.Val201del) c.312_314del (p.Val105del) c.*2312_*2314del (n.*2312_*2314del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644449T>A | CA351606530 | BTD | c.533T>A (p.Val178Asp) c.399+2392T>A (n.399+2392T>A) c.165+2392T>A (n.165+2392T>A) c.593T>A (p.Val198Asp) c.599T>A (p.Val200Asp) c.311T>A (p.Val104Asp) c.*2311T>A (n.*2311T>A) | |
| 3 | g.15644449T>C | CA351606533 | BTD | c.533T>C (p.Val178Ala) c.399+2392T>C (n.399+2392T>C) c.165+2392T>C (n.165+2392T>C) c.593T>C (p.Val198Ala) c.599T>C (p.Val200Ala) c.311T>C (p.Val104Ala) c.*2311T>C (n.*2311T>C) | |
| 3 | g.15644449T>G | CA351606531 | BTD | c.533T>G (p.Val178Gly) c.399+2392T>G (n.399+2392T>G) c.165+2392T>G (n.165+2392T>G) c.593T>G (p.Val198Gly) c.599T>G (p.Val200Gly) c.311T>G (p.Val104Gly) c.*2311T>G (n.*2311T>G) | |
| 3 | g.15644449_15644450delinsTC | CA1347663702 | BTD | c.533_534delinsTC (p.Val178=) c.399+2392_399+2393delinsTC (n.399+2392_399+2393delinsTC) c.165+2392_165+2393delinsTC (n.165+2392_165+2393delinsTC) c.593_594delinsTC (p.Val198=) c.599_600delinsTC (p.Val200=) c.311_312delinsTC (p.Val104=) c.*2311_*2312delinsTC (n.*2311_*2312delinsTC) | |
| 3 | g.15644450del | CA278234 | BTD | c.534del (p.Val179CysfsTer?) c.399+2393del (n.399+2393del) c.165+2393del (n.165+2393del) c.594del (p.Val199CysfsTer?) c.600del (p.Val201CysfsTer?) c.312del (p.Val105CysfsTer?) c.*2312del (n.*2312del) | dbSNP |
| 3 | g.15644450C>A | CA432819258 | BTD | c.534C>A (p.Val178=) c.399+2393C>A (n.399+2393C>A) c.165+2393C>A (n.165+2393C>A) c.594C>A (p.Val198=) c.600C>A (p.Val200=) c.312C>A (p.Val104=) c.*2312C>A (n.*2312C>A) | |
| 3 | g.15644450C= | CA1347663712 | BTD | c.534C= (p.Val178=) c.399+2393C= (n.399+2393C=) c.165+2393C= (n.165+2393C=) c.594C= (p.Val198=) c.600C= (p.Val200=) c.312C= (p.Val104=) c.*2312C= (n.*2312C=) | |
| 3 | g.15644450C>G | CA432819260 | BTD | c.534C>G (p.Val178=) c.399+2393C>G (n.399+2393C>G) c.165+2393C>G (n.165+2393C>G) c.594C>G (p.Val198=) c.600C>G (p.Val200=) c.312C>G (p.Val104=) c.*2312C>G (n.*2312C>G) | ClinVar dbSNP |
| 3 | g.15644450C>T | CA2277346 | BTD | c.534C>T (p.Val178=) c.399+2393C>T (n.399+2393C>T) c.165+2393C>T (n.165+2393C>T) c.594C>T (p.Val198=) c.600C>T (p.Val200=) c.312C>T (p.Val104=) c.*2312C>T (n.*2312C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644451G>A | CA278235 | BTD | c.535G>A (p.Val179Met) c.399+2394G>A (n.399+2394G>A) c.165+2394G>A (n.165+2394G>A) c.595G>A (p.Val199Met) c.601G>A (p.Val201Met) c.313G>A (p.Val105Met) c.*2313G>A (n.*2313G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644451G>C | CA351606538 | BTD | c.535G>C (p.Val179Leu) c.399+2394G>C (n.399+2394G>C) c.165+2394G>C (n.165+2394G>C) c.595G>C (p.Val199Leu) c.601G>C (p.Val201Leu) c.313G>C (p.Val105Leu) c.*2313G>C (n.*2313G>C) | dbSNP |
| 3 | g.15644451G= | CA1347663717 | BTD | c.535G= (p.Val179=) c.399+2394G= (n.399+2394G=) c.165+2394G= (n.165+2394G=) c.595G= (p.Val199=) c.601G= (p.Val201=) c.313G= (p.Val105=) c.*2313G= (n.*2313G=) | |
| 3 | g.15644451G>T | CA351606540 | BTD | c.535G>T (p.Val179Leu) c.399+2394G>T (n.399+2394G>T) c.165+2394G>T (n.165+2394G>T) c.595G>T (p.Val199Leu) c.601G>T (p.Val201Leu) c.313G>T (p.Val105Leu) c.*2313G>T (n.*2313G>T) | gnomAD v4 |
| 3 | g.15644452T>A | CA351606543 | BTD | c.536T>A (p.Val179Glu) c.399+2395T>A (n.399+2395T>A) c.165+2395T>A (n.165+2395T>A) c.596T>A (p.Val199Glu) c.602T>A (p.Val201Glu) c.314T>A (p.Val105Glu) c.*2314T>A (n.*2314T>A) | gnomAD v4 |
| 3 | g.15644452T>C | CA351606545 | BTD | c.536T>C (p.Val179Ala) c.399+2395T>C (n.399+2395T>C) c.165+2395T>C (n.165+2395T>C) c.596T>C (p.Val199Ala) c.602T>C (p.Val201Ala) c.314T>C (p.Val105Ala) c.*2314T>C (n.*2314T>C) | |
| 3 | g.15644452T>G | CA351606547 | BTD | c.536T>G (p.Val179Gly) c.399+2395T>G (n.399+2395T>G) c.165+2395T>G (n.165+2395T>G) c.596T>G (p.Val199Gly) c.602T>G (p.Val201Gly) c.314T>G (p.Val105Gly) c.*2314T>G (n.*2314T>G) | |
| 3 | g.15644453G>A | CA432819269 | BTD | c.537G>A (p.Val179=) c.399+2396G>A (n.399+2396G>A) c.165+2396G>A (n.165+2396G>A) c.597G>A (p.Val199=) c.603G>A (p.Val201=) c.315G>A (p.Val105=) c.*2315G>A (n.*2315G>A) | dbSNP |
| 3 | g.15644453G>C | CA432819270 | BTD | c.537G>C (p.Val179=) c.399+2396G>C (n.399+2396G>C) c.165+2396G>C (n.165+2396G>C) c.597G>C (p.Val199=) c.603G>C (p.Val201=) c.315G>C (p.Val105=) c.*2315G>C (n.*2315G>C) | |
| 3 | g.15644453G= | CA1347663718 | BTD | c.537G= (p.Val179=) c.399+2396G= (n.399+2396G=) c.165+2396G= (n.165+2396G=) c.597G= (p.Val199=) c.603G= (p.Val201=) c.315G= (p.Val105=) c.*2315G= (n.*2315G=) | |
| 3 | g.15644453G>T | CA432819272 | BTD | c.537G>T (p.Val179=) c.399+2396G>T (n.399+2396G>T) c.165+2396G>T (n.165+2396G>T) c.597G>T (p.Val199=) c.603G>T (p.Val201=) c.315G>T (p.Val105=) c.*2315G>T (n.*2315G>T) | |
| 3 | g.15644454T>A | CA351606549 | BTD | c.538T>A (p.Phe180Ile) c.399+2397T>A (n.399+2397T>A) c.165+2397T>A (n.165+2397T>A) c.598T>A (p.Phe200Ile) c.604T>A (p.Phe202Ile) c.316T>A (p.Phe106Ile) c.*2316T>A (n.*2316T>A) | |
| 3 | g.15644454T>C | CA351606550 | BTD | c.538T>C (p.Phe180Leu) c.399+2397T>C (n.399+2397T>C) c.165+2397T>C (n.165+2397T>C) c.598T>C (p.Phe200Leu) c.604T>C (p.Phe202Leu) c.316T>C (p.Phe106Leu) c.*2316T>C (n.*2316T>C) | |
| 3 | g.15644454T>G | CA351606552 | BTD | c.538T>G (p.Phe180Val) c.399+2397T>G (n.399+2397T>G) c.165+2397T>G (n.165+2397T>G) c.598T>G (p.Phe200Val) c.604T>G (p.Phe202Val) c.316T>G (p.Phe106Val) c.*2316T>G (n.*2316T>G) |