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.15644643G>A | CA351607222 | BTD | c.727G>A (p.Val243Met) c.399+2586G>A (n.399+2586G>A) c.165+2586G>A (n.165+2586G>A) c.787G>A (p.Val263Met) c.793G>A (p.Val265Met) c.505G>A (p.Val169Met) c.*2505G>A (n.*2505G>A) | |
| 3 | g.15644643G>C | CA351607223 | BTD | c.727G>C (p.Val243Leu) c.399+2586G>C (n.399+2586G>C) c.165+2586G>C (n.165+2586G>C) c.787G>C (p.Val263Leu) c.793G>C (p.Val265Leu) c.505G>C (p.Val169Leu) c.*2505G>C (n.*2505G>C) | |
| 3 | g.15644643G= | CA1347664147 | BTD | c.727G= (p.Val243=) c.399+2586G= (n.399+2586G=) c.165+2586G= (n.165+2586G=) c.787G= (p.Val263=) c.793G= (p.Val265=) c.505G= (p.Val169=) c.*2505G= (n.*2505G=) | |
| 3 | g.15644643G>T | CA2277377 | BTD | c.727G>T (p.Val243Leu) c.399+2586G>T (n.399+2586G>T) c.165+2586G>T (n.165+2586G>T) c.787G>T (p.Val263Leu) c.793G>T (p.Val265Leu) c.505G>T (p.Val169Leu) c.*2505G>T (n.*2505G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644644T>A | CA351607224 | BTD | c.728T>A (p.Val243Glu) c.399+2587T>A (n.399+2587T>A) c.165+2587T>A (n.165+2587T>A) c.788T>A (p.Val263Glu) c.794T>A (p.Val265Glu) c.506T>A (p.Val169Glu) c.*2506T>A (n.*2506T>A) | |
| 3 | g.15644644T>C | CA351607225 | BTD | c.728T>C (p.Val243Ala) c.399+2587T>C (n.399+2587T>C) c.165+2587T>C (n.165+2587T>C) c.788T>C (p.Val263Ala) c.794T>C (p.Val265Ala) c.506T>C (p.Val169Ala) c.*2506T>C (n.*2506T>C) | |
| 3 | g.15644644T>G | CA351607226 | BTD | c.728T>G (p.Val243Gly) c.399+2587T>G (n.399+2587T>G) c.165+2587T>G (n.165+2587T>G) c.788T>G (p.Val263Gly) c.794T>G (p.Val265Gly) c.506T>G (p.Val169Gly) c.*2506T>G (n.*2506T>G) | |
| 3 | g.15644645G>A | CA2277378 | BTD | c.729G>A (p.Val243=) c.399+2588G>A (n.399+2588G>A) c.165+2588G>A (n.165+2588G>A) c.789G>A (p.Val263=) c.795G>A (p.Val265=) c.507G>A (p.Val169=) c.*2507G>A (n.*2507G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644645G>C | CA432819349 | BTD | c.729G>C (p.Val243=) c.399+2588G>C (n.399+2588G>C) c.165+2588G>C (n.165+2588G>C) c.789G>C (p.Val263=) c.795G>C (p.Val265=) c.507G>C (p.Val169=) c.*2507G>C (n.*2507G>C) | |
| 3 | g.15644645G= | CA1347664151 | BTD | c.729G= (p.Val243=) c.399+2588G= (n.399+2588G=) c.165+2588G= (n.165+2588G=) c.789G= (p.Val263=) c.795G= (p.Val265=) c.507G= (p.Val169=) c.*2507G= (n.*2507G=) | |
| 3 | g.15644645G>T | CA432819350 | BTD | c.729G>T (p.Val243=) c.399+2588G>T (n.399+2588G>T) c.165+2588G>T (n.165+2588G>T) c.789G>T (p.Val263=) c.795G>T (p.Val265=) c.507G>T (p.Val169=) c.*2507G>T (n.*2507G>T) | |
| 3 | g.15644646A>C | CA351607227 | BTD | c.730A>C (p.Lys244Gln) c.399+2589A>C (n.399+2589A>C) c.165+2589A>C (n.165+2589A>C) c.790A>C (p.Lys264Gln) c.796A>C (p.Lys266Gln) c.508A>C (p.Lys170Gln) c.*2508A>C (n.*2508A>C) | |
| 3 | g.15644646A>G | CA351607228 | BTD | c.730A>G (p.Lys244Glu) c.399+2589A>G (n.399+2589A>G) c.165+2589A>G (n.165+2589A>G) c.790A>G (p.Lys264Glu) c.796A>G (p.Lys266Glu) c.508A>G (p.Lys170Glu) c.*2508A>G (n.*2508A>G) | |
| 3 | g.15644646A>T | CA351607229 | BTD | c.730A>T (p.Lys244Ter) c.399+2589A>T (n.399+2589A>T) c.165+2589A>T (n.165+2589A>T) c.790A>T (p.Lys264Ter) c.796A>T (p.Lys266Ter) c.508A>T (p.Lys170Ter) c.*2508A>T (n.*2508A>T) | |
| 3 | g.15644647A>C | CA351607230 | BTD | c.731A>C (p.Lys244Thr) c.399+2590A>C (n.399+2590A>C) c.165+2590A>C (n.165+2590A>C) c.791A>C (p.Lys264Thr) c.797A>C (p.Lys266Thr) c.509A>C (p.Lys170Thr) c.*2509A>C (n.*2509A>C) | |
| 3 | g.15644647A>G | CA351607231 | BTD | c.731A>G (p.Lys244Arg) c.399+2590A>G (n.399+2590A>G) c.165+2590A>G (n.165+2590A>G) c.791A>G (p.Lys264Arg) c.797A>G (p.Lys266Arg) c.509A>G (p.Lys170Arg) c.*2509A>G (n.*2509A>G) | |
| 3 | g.15644647A>T | CA351607232 | BTD | c.731A>T (p.Lys244Met) c.399+2590A>T (n.399+2590A>T) c.165+2590A>T (n.165+2590A>T) c.791A>T (p.Lys264Met) c.797A>T (p.Lys266Met) c.509A>T (p.Lys170Met) c.*2509A>T (n.*2509A>T) | |
| 3 | g.15644648G>A | CA432819351 | BTD | c.732G>A (p.Lys244=) c.399+2591G>A (n.399+2591G>A) c.165+2591G>A (n.165+2591G>A) c.792G>A (p.Lys264=) c.798G>A (p.Lys266=) c.510G>A (p.Lys170=) c.*2510G>A (n.*2510G>A) | |
| 3 | g.15644648G>C | CA351607233 | BTD | c.732G>C (p.Lys244Asn) c.399+2591G>C (n.399+2591G>C) c.165+2591G>C (n.165+2591G>C) c.792G>C (p.Lys264Asn) c.798G>C (p.Lys266Asn) c.510G>C (p.Lys170Asn) c.*2510G>C (n.*2510G>C) | |
| 3 | g.15644648G>T | CA351607234 | BTD | c.732G>T (p.Lys244Asn) c.399+2591G>T (n.399+2591G>T) c.165+2591G>T (n.165+2591G>T) c.792G>T (p.Lys264Asn) c.798G>T (p.Lys266Asn) c.510G>T (p.Lys170Asn) c.*2510G>T (n.*2510G>T) | |
| 3 | g.15644649C>A | CA351607237 | BTD | c.733C>A (p.His245Asn) c.399+2592C>A (n.399+2592C>A) c.165+2592C>A (n.165+2592C>A) c.793C>A (p.His265Asn) c.799C>A (p.His267Asn) c.511C>A (p.His171Asn) c.*2511C>A (n.*2511C>A) | |
| 3 | g.15644649C= | CA1347664153 | BTD | c.733C= (p.His245=) c.399+2592C= (n.399+2592C=) c.165+2592C= (n.165+2592C=) c.793C= (p.His265=) c.799C= (p.His267=) c.511C= (p.His171=) c.*2511C= (n.*2511C=) | |
| 3 | g.15644649C>G | CA351607235 | BTD | c.733C>G (p.His245Asp) c.399+2592C>G (n.399+2592C>G) c.165+2592C>G (n.165+2592C>G) c.793C>G (p.His265Asp) c.799C>G (p.His267Asp) c.511C>G (p.His171Asp) c.*2511C>G (n.*2511C>G) | gnomAD v4 |
| 3 | g.15644649C>T | CA351607236 | BTD | c.733C>T (p.His245Tyr) c.399+2592C>T (n.399+2592C>T) c.165+2592C>T (n.165+2592C>T) c.793C>T (p.His265Tyr) c.799C>T (p.His267Tyr) c.511C>T (p.His171Tyr) c.*2511C>T (n.*2511C>T) | dbSNP gnomAD v4 |
| 3 | g.15644650A= | CA1347664160 | BTD | c.734A= (p.His245=) c.399+2593A= (n.399+2593A=) c.165+2593A= (n.165+2593A=) c.794A= (p.His265=) c.800A= (p.His267=) c.512A= (p.His171=) c.*2512A= (n.*2512A=) | |
| 3 | g.15644650A>C | CA351607238 | BTD | c.734A>C (p.His245Pro) c.399+2593A>C (n.399+2593A>C) c.165+2593A>C (n.165+2593A>C) c.794A>C (p.His265Pro) c.800A>C (p.His267Pro) c.512A>C (p.His171Pro) c.*2512A>C (n.*2512A>C) | |
| 3 | g.15644650A>G | CA351607239 | BTD | c.734A>G (p.His245Arg) c.399+2593A>G (n.399+2593A>G) c.165+2593A>G (n.165+2593A>G) c.794A>G (p.His265Arg) c.800A>G (p.His267Arg) c.512A>G (p.His171Arg) c.*2512A>G (n.*2512A>G) | |
| 3 | g.15644650A>T | CA278260 | BTD | c.734A>T (p.His245Leu) c.399+2593A>T (n.399+2593A>T) c.165+2593A>T (n.165+2593A>T) c.794A>T (p.His265Leu) c.800A>T (p.His267Leu) c.512A>T (p.His171Leu) c.*2512A>T (n.*2512A>T) | dbSNP |
| 3 | g.[15644650A>T;15644789T>G] | CA082722 | BTD | c.[734A>T;873T>G] (p.[His245Leu;Ser291Arg]) c.[399+2593A>T;399+2732T>G] (n.[399+2593A>T;399+2732T>G]) c.[165+2593A>T;165+2732T>G] (n.[165+2593A>T;165+2732T>G]) c.[794A>T;933T>G] (p.[His265Leu;Ser311Arg]) c.[800A>T;939T>G] (p.[His267Leu;Ser313Arg]) c.[512A>T;651T>G] (p.[His171Leu;Ser217Arg]) c.[*2512A>T;*2651T>G] (n.[*2512A>T;*2651T>G]) | |
| 3 | g.15644652_15644653insGATG | CA2664667151 | BTD | c.736_737insGATG (p.Val246GlyfsTer19) c.399+2595_399+2596insGATG (n.399+2595_399+2596insGATG) c.165+2595_165+2596insGATG (n.165+2595_165+2596insGATG) c.796_797insGATG (p.Val266GlyfsTer19) c.802_803insGATG (p.Val268GlyfsTer19) c.514_515insGATG (p.Val172GlyfsTer19) c.736_737insGATG (p.Val246GlyfsTer?) c.*2514_*2515insGATG (n.*2514_*2515insGATG) | gnomAD v4 |
| 3 | g.15644651T>A | CA351607240 | BTD | c.735T>A (p.His245Gln) c.399+2594T>A (n.399+2594T>A) c.165+2594T>A (n.165+2594T>A) c.795T>A (p.His265Gln) c.801T>A (p.His267Gln) c.513T>A (p.His171Gln) c.*2513T>A (n.*2513T>A) | |
| 3 | g.15644651T>C | CA432819352 | BTD | c.735T>C (p.His245=) c.399+2594T>C (n.399+2594T>C) c.165+2594T>C (n.165+2594T>C) c.795T>C (p.His265=) c.801T>C (p.His267=) c.513T>C (p.His171=) c.*2513T>C (n.*2513T>C) | COSMIC |
| 3 | g.15644651T>G | CA351607241 | BTD | c.735T>G (p.His245Gln) c.399+2594T>G (n.399+2594T>G) c.165+2594T>G (n.165+2594T>G) c.795T>G (p.His265Gln) c.801T>G (p.His267Gln) c.513T>G (p.His171Gln) c.*2513T>G (n.*2513T>G) | |
| 3 | g.15644652G>A | CA351607242 | BTD | c.736G>A (p.Val246Ile) c.399+2595G>A (n.399+2595G>A) c.165+2595G>A (n.165+2595G>A) c.796G>A (p.Val266Ile) c.802G>A (p.Val268Ile) c.514G>A (p.Val172Ile) c.*2514G>A (n.*2514G>A) | dbSNP |
| 3 | g.15644652G>C | CA351607243 | BTD | c.736G>C (p.Val246Leu) c.399+2595G>C (n.399+2595G>C) c.165+2595G>C (n.165+2595G>C) c.796G>C (p.Val266Leu) c.802G>C (p.Val268Leu) c.514G>C (p.Val172Leu) c.*2514G>C (n.*2514G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644652G= | CA1347664168 | BTD | c.736G= (p.Val246=) c.399+2595G= (n.399+2595G=) c.165+2595G= (n.165+2595G=) c.796G= (p.Val266=) c.802G= (p.Val268=) c.514G= (p.Val172=) c.*2514G= (n.*2514G=) | |
| 3 | g.15644652G>T | CA351607244 | BTD | c.736G>T (p.Val246Phe) c.399+2595G>T (n.399+2595G>T) c.165+2595G>T (n.165+2595G>T) c.796G>T (p.Val266Phe) c.802G>T (p.Val268Phe) c.514G>T (p.Val172Phe) c.*2514G>T (n.*2514G>T) | |
| 3 | g.15644653T>A | CA351607245 | BTD | c.737T>A (p.Val246Asp) c.399+2596T>A (n.399+2596T>A) c.165+2596T>A (n.165+2596T>A) c.797T>A (p.Val266Asp) c.803T>A (p.Val268Asp) c.515T>A (p.Val172Asp) c.*2515T>A (n.*2515T>A) | ClinVar |
| 3 | g.15644653T>C | CA351607246 | BTD | c.737T>C (p.Val246Ala) c.399+2596T>C (n.399+2596T>C) c.165+2596T>C (n.165+2596T>C) c.797T>C (p.Val266Ala) c.803T>C (p.Val268Ala) c.515T>C (p.Val172Ala) c.*2515T>C (n.*2515T>C) | |
| 3 | g.15644653T>G | CA351607247 | BTD | c.737T>G (p.Val246Gly) c.399+2596T>G (n.399+2596T>G) c.165+2596T>G (n.165+2596T>G) c.797T>G (p.Val266Gly) c.803T>G (p.Val268Gly) c.515T>G (p.Val172Gly) c.*2515T>G (n.*2515T>G) | |
| 3 | g.15644654T>A | CA432819354 | BTD | c.738T>A (p.Val246=) c.399+2597T>A (n.399+2597T>A) c.165+2597T>A (n.165+2597T>A) c.798T>A (p.Val266=) c.804T>A (p.Val268=) c.516T>A (p.Val172=) c.*2516T>A (n.*2516T>A) | |
| 3 | g.15644654T>C | CA432819355 | BTD | c.738T>C (p.Val246=) c.399+2597T>C (n.399+2597T>C) c.165+2597T>C (n.165+2597T>C) c.798T>C (p.Val266=) c.804T>C (p.Val268=) c.516T>C (p.Val172=) c.*2516T>C (n.*2516T>C) | |
| 3 | g.15644654T>G | CA432819357 | BTD | c.738T>G (p.Val246=) c.399+2597T>G (n.399+2597T>G) c.165+2597T>G (n.165+2597T>G) c.798T>G (p.Val266=) c.804T>G (p.Val268=) c.516T>G (p.Val172=) c.*2516T>G (n.*2516T>G) | |
| 3 | g.15644655G>A | CA351607250 | BTD | c.739G>A (p.Val247Met) c.399+2598G>A (n.399+2598G>A) c.165+2598G>A (n.165+2598G>A) c.799G>A (p.Val267Met) c.805G>A (p.Val269Met) c.517G>A (p.Val173Met) c.*2517G>A (n.*2517G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644655G>C | CA351607249 | BTD | c.739G>C (p.Val247Leu) c.399+2598G>C (n.399+2598G>C) c.165+2598G>C (n.165+2598G>C) c.799G>C (p.Val267Leu) c.805G>C (p.Val269Leu) c.517G>C (p.Val173Leu) c.*2517G>C (n.*2517G>C) | |
| 3 | g.15644655G= | CA1347664174 | BTD | c.739G= (p.Val247=) c.399+2598G= (n.399+2598G=) c.165+2598G= (n.165+2598G=) c.799G= (p.Val267=) c.805G= (p.Val269=) c.517G= (p.Val173=) c.*2517G= (n.*2517G=) | |
| 3 | g.15644655G>T | CA351607248 | BTD | c.739G>T (p.Val247Leu) c.399+2598G>T (n.399+2598G>T) c.165+2598G>T (n.165+2598G>T) c.799G>T (p.Val267Leu) c.805G>T (p.Val269Leu) c.517G>T (p.Val173Leu) c.*2517G>T (n.*2517G>T) | ClinVar dbSNP |
| 3 | g.15644656T>A | CA351607251 | BTD | c.740T>A (p.Val247Glu) c.399+2599T>A (n.399+2599T>A) c.165+2599T>A (n.165+2599T>A) c.800T>A (p.Val267Glu) c.806T>A (p.Val269Glu) c.518T>A (p.Val173Glu) c.*2518T>A (n.*2518T>A) | |
| 3 | g.15644656T>C | CA351607252 | BTD | c.740T>C (p.Val247Ala) c.399+2599T>C (n.399+2599T>C) c.165+2599T>C (n.165+2599T>C) c.800T>C (p.Val267Ala) c.806T>C (p.Val269Ala) c.518T>C (p.Val173Ala) c.*2518T>C (n.*2518T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644656T>G | CA351607253 | BTD | c.740T>G (p.Val247Gly) c.399+2599T>G (n.399+2599T>G) c.165+2599T>G (n.165+2599T>G) c.800T>G (p.Val267Gly) c.806T>G (p.Val269Gly) c.518T>G (p.Val173Gly) c.*2518T>G (n.*2518T>G) |