WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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) | |
| 3 | g.15644455T>A | CA351606556 | BTD | c.539T>A (p.Phe180Tyr) c.399+2398T>A (n.399+2398T>A) c.165+2398T>A (n.165+2398T>A) c.599T>A (p.Phe200Tyr) c.605T>A (p.Phe202Tyr) c.317T>A (p.Phe106Tyr) c.*2317T>A (n.*2317T>A) | |
| 3 | g.15644455T>C | CA351606558 | BTD | c.539T>C (p.Phe180Ser) c.399+2398T>C (n.399+2398T>C) c.165+2398T>C (n.165+2398T>C) c.599T>C (p.Phe200Ser) c.605T>C (p.Phe202Ser) c.317T>C (p.Phe106Ser) c.*2317T>C (n.*2317T>C) | |
| 3 | g.15644455T>G | CA351606554 | BTD | c.539T>G (p.Phe180Cys) c.399+2398T>G (n.399+2398T>G) c.165+2398T>G (n.165+2398T>G) c.599T>G (p.Phe200Cys) c.605T>G (p.Phe202Cys) c.317T>G (p.Phe106Cys) c.*2317T>G (n.*2317T>G) | |
| 3 | g.15644456C>A | CA351606562 | BTD | c.540C>A (p.Phe180Leu) c.399+2399C>A (n.399+2399C>A) c.165+2399C>A (n.165+2399C>A) c.600C>A (p.Phe200Leu) c.606C>A (p.Phe202Leu) c.318C>A (p.Phe106Leu) c.*2318C>A (n.*2318C>A) | |
| 3 | g.15644456C= | CA1347663719 | BTD | c.540C= (p.Phe180=) c.399+2399C= (n.399+2399C=) c.165+2399C= (n.165+2399C=) c.600C= (p.Phe200=) c.606C= (p.Phe202=) c.318C= (p.Phe106=) c.*2318C= (n.*2318C=) | |
| 3 | g.15644456C>G | CA351606560 | BTD | c.540C>G (p.Phe180Leu) c.399+2399C>G (n.399+2399C>G) c.165+2399C>G (n.165+2399C>G) c.600C>G (p.Phe200Leu) c.606C>G (p.Phe202Leu) c.318C>G (p.Phe106Leu) c.*2318C>G (n.*2318C>G) | |
| 3 | g.15644456C>T | CA432819277 | BTD | c.540C>T (p.Phe180=) c.399+2399C>T (n.399+2399C>T) c.165+2399C>T (n.165+2399C>T) c.600C>T (p.Phe200=) c.606C>T (p.Phe202=) c.318C>T (p.Phe106=) c.*2318C>T (n.*2318C>T) | dbSNP |
| 3 | g.15644457A= | CA1347663721 | BTD | c.541A= (p.Ser181=) c.399+2400A= (n.399+2400A=) c.165+2400A= (n.165+2400A=) c.601A= (p.Ser201=) c.607A= (p.Ser203=) c.319A= (p.Ser107=) c.*2319A= (n.*2319A=) | |
| 3 | g.15644457A>C | CA351606568 | BTD | c.541A>C (p.Ser181Arg) c.399+2400A>C (n.399+2400A>C) c.165+2400A>C (n.165+2400A>C) c.601A>C (p.Ser201Arg) c.607A>C (p.Ser203Arg) c.319A>C (p.Ser107Arg) c.*2319A>C (n.*2319A>C) | |
| 3 | g.15644457A>G | CA351606565 | BTD | c.541A>G (p.Ser181Gly) c.399+2400A>G (n.399+2400A>G) c.165+2400A>G (n.165+2400A>G) c.601A>G (p.Ser201Gly) c.607A>G (p.Ser203Gly) c.319A>G (p.Ser107Gly) c.*2319A>G (n.*2319A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644457A>T | CA351606566 | BTD | c.541A>T (p.Ser181Cys) c.399+2400A>T (n.399+2400A>T) c.165+2400A>T (n.165+2400A>T) c.601A>T (p.Ser201Cys) c.607A>T (p.Ser203Cys) c.319A>T (p.Ser107Cys) c.*2319A>T (n.*2319A>T) | |
| 3 | g.15644458G>A | CA351606571 | BTD | c.542G>A (p.Ser181Asn) c.399+2401G>A (n.399+2401G>A) c.165+2401G>A (n.165+2401G>A) c.602G>A (p.Ser201Asn) c.608G>A (p.Ser203Asn) c.320G>A (p.Ser107Asn) c.*2320G>A (n.*2320G>A) | dbSNP |
| 3 | g.15644458G>C | CA351606573 | BTD | c.542G>C (p.Ser181Thr) c.399+2401G>C (n.399+2401G>C) c.165+2401G>C (n.165+2401G>C) c.602G>C (p.Ser201Thr) c.608G>C (p.Ser203Thr) c.320G>C (p.Ser107Thr) c.*2320G>C (n.*2320G>C) | |
| 3 | g.15644458G>T | CA351606575 | BTD | c.542G>T (p.Ser181Ile) c.399+2401G>T (n.399+2401G>T) c.165+2401G>T (n.165+2401G>T) c.602G>T (p.Ser201Ile) c.608G>T (p.Ser203Ile) c.320G>T (p.Ser107Ile) c.*2320G>T (n.*2320G>T) | |
| 3 | g.15644459C>A | CA351606577 | BTD | c.543C>A (p.Ser181Arg) c.399+2402C>A (n.399+2402C>A) c.165+2402C>A (n.165+2402C>A) c.603C>A (p.Ser201Arg) c.609C>A (p.Ser203Arg) c.321C>A (p.Ser107Arg) c.*2321C>A (n.*2321C>A) | |
| 3 | g.15644459C>G | CA351606579 | BTD | c.543C>G (p.Ser181Arg) c.399+2402C>G (n.399+2402C>G) c.165+2402C>G (n.165+2402C>G) c.603C>G (p.Ser201Arg) c.609C>G (p.Ser203Arg) c.321C>G (p.Ser107Arg) c.*2321C>G (n.*2321C>G) | |
| 3 | g.15644459C>T | CA432819283 | BTD | c.543C>T (p.Ser181=) c.399+2402C>T (n.399+2402C>T) c.165+2402C>T (n.165+2402C>T) c.603C>T (p.Ser201=) c.609C>T (p.Ser203=) c.321C>T (p.Ser107=) c.*2321C>T (n.*2321C>T) | |
| 3 | g.15644460A>C | CA351606581 | BTD | c.544A>C (p.Asn182His) c.399+2403A>C (n.399+2403A>C) c.165+2403A>C (n.165+2403A>C) c.604A>C (p.Asn202His) c.610A>C (p.Asn204His) c.322A>C (p.Asn108His) c.*2322A>C (n.*2322A>C) | |
| 3 | g.15644460A>G | CA351606582 | BTD | c.544A>G (p.Asn182Asp) c.399+2403A>G (n.399+2403A>G) c.165+2403A>G (n.165+2403A>G) c.604A>G (p.Asn202Asp) c.610A>G (p.Asn204Asp) c.322A>G (p.Asn108Asp) c.*2322A>G (n.*2322A>G) | |
| 3 | g.15644460A>T | CA351606583 | BTD | c.544A>T (p.Asn182Tyr) c.399+2403A>T (n.399+2403A>T) c.165+2403A>T (n.165+2403A>T) c.604A>T (p.Asn202Tyr) c.610A>T (p.Asn204Tyr) c.322A>T (p.Asn108Tyr) c.*2322A>T (n.*2322A>T) | |
| 3 | g.15644461A= | CA1347663727 | BTD | c.545A= (p.Asn182=) c.399+2404A= (n.399+2404A=) c.165+2404A= (n.165+2404A=) c.605A= (p.Asn202=) c.611A= (p.Asn204=) c.323A= (p.Asn108=) c.*2323A= (n.*2323A=) | |
| 3 | g.15644461A>C | CA351606586 | BTD | c.545A>C (p.Asn182Thr) c.399+2404A>C (n.399+2404A>C) c.165+2404A>C (n.165+2404A>C) c.605A>C (p.Asn202Thr) c.611A>C (p.Asn204Thr) c.323A>C (p.Asn108Thr) c.*2323A>C (n.*2323A>C) | gnomAD v4 |
| 3 | g.15644461A>G | CA2277347 | BTD | c.545A>G (p.Asn182Ser) c.399+2404A>G (n.399+2404A>G) c.165+2404A>G (n.165+2404A>G) c.605A>G (p.Asn202Ser) c.611A>G (p.Asn204Ser) c.323A>G (p.Asn108Ser) c.*2323A>G (n.*2323A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644461A>T | CA278237 | BTD | c.545A>T (p.Asn182Ile) c.399+2404A>T (n.399+2404A>T) c.165+2404A>T (n.165+2404A>T) c.605A>T (p.Asn202Ile) c.611A>T (p.Asn204Ile) c.323A>T (p.Asn108Ile) c.*2323A>T (n.*2323A>T) | ClinVar dbSNP |
| 3 | g.15644462T>A | CA2277348 | BTD | c.546T>A (p.Asn182Lys) c.399+2405T>A (n.399+2405T>A) c.165+2405T>A (n.165+2405T>A) c.606T>A (p.Asn202Lys) c.612T>A (p.Asn204Lys) c.324T>A (p.Asn108Lys) c.*2324T>A (n.*2324T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644462T>C | CA432819288 | BTD | c.546T>C (p.Asn182=) c.399+2405T>C (n.399+2405T>C) c.165+2405T>C (n.165+2405T>C) c.606T>C (p.Asn202=) c.612T>C (p.Asn204=) c.324T>C (p.Asn108=) c.*2324T>C (n.*2324T>C) |