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.15644351A>C | CA432819055 | BTD | c.435A>C (p.Gly145=) c.399+2294A>C (n.399+2294A>C) c.165+2294A>C (n.165+2294A>C) c.495A>C (p.Gly165=) c.501A>C (p.Gly167=) c.213A>C (p.Gly71=) c.*2213A>C (n.*2213A>C) | |
| 3 | g.15644351A>G | CA432819053 | BTD | c.435A>G (p.Gly145=) c.399+2294A>G (n.399+2294A>G) c.165+2294A>G (n.165+2294A>G) c.495A>G (p.Gly165=) c.501A>G (p.Gly167=) c.213A>G (p.Gly71=) c.*2213A>G (n.*2213A>G) | |
| 3 | g.15644351A>T | CA432819054 | BTD | c.435A>T (p.Gly145=) c.399+2294A>T (n.399+2294A>T) c.165+2294A>T (n.165+2294A>T) c.495A>T (p.Gly165=) c.501A>T (p.Gly167=) c.213A>T (p.Gly71=) c.*2213A>T (n.*2213A>T) | ClinVar dbSNP |
| 3 | g.15644352G>A | CA70621477 | BTD | c.436G>A (p.Asp146Asn) c.399+2295G>A (n.399+2295G>A) c.165+2295G>A (n.165+2295G>A) c.496G>A (p.Asp166Asn) c.502G>A (p.Asp168Asn) c.214G>A (p.Asp72Asn) c.*2214G>A (n.*2214G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644352G>C | CA351606210 | BTD | c.436G>C (p.Asp146His) c.399+2295G>C (n.399+2295G>C) c.165+2295G>C (n.165+2295G>C) c.496G>C (p.Asp166His) c.502G>C (p.Asp168His) c.214G>C (p.Asp72His) c.*2214G>C (n.*2214G>C) | |
| 3 | g.15644352G= | CA1347663551 | BTD | c.436G= (p.Asp146=) c.399+2295G= (n.399+2295G=) c.165+2295G= (n.165+2295G=) c.496G= (p.Asp166=) c.502G= (p.Asp168=) c.214G= (p.Asp72=) c.*2214G= (n.*2214G=) | |
| 3 | g.15644352G>T | CA351606211 | BTD | c.436G>T (p.Asp146Tyr) c.399+2295G>T (n.399+2295G>T) c.165+2295G>T (n.165+2295G>T) c.496G>T (p.Asp166Tyr) c.502G>T (p.Asp168Tyr) c.214G>T (p.Asp72Tyr) c.*2214G>T (n.*2214G>T) | |
| 3 | g.15644353A>C | CA351606214 | BTD | c.437A>C (p.Asp146Ala) c.399+2296A>C (n.399+2296A>C) c.165+2296A>C (n.165+2296A>C) c.497A>C (p.Asp166Ala) c.503A>C (p.Asp168Ala) c.215A>C (p.Asp72Ala) c.*2215A>C (n.*2215A>C) | |
| 3 | g.15644353A>G | CA351606213 | BTD | c.437A>G (p.Asp146Gly) c.399+2296A>G (n.399+2296A>G) c.165+2296A>G (n.165+2296A>G) c.497A>G (p.Asp166Gly) c.503A>G (p.Asp168Gly) c.215A>G (p.Asp72Gly) c.*2215A>G (n.*2215A>G) | gnomAD v4 |
| 3 | g.15644353A>T | CA351606212 | BTD | c.437A>T (p.Asp146Val) c.399+2296A>T (n.399+2296A>T) c.165+2296A>T (n.165+2296A>T) c.497A>T (p.Asp166Val) c.503A>T (p.Asp168Val) c.215A>T (p.Asp72Val) c.*2215A>T (n.*2215A>T) | gnomAD v4 |
| 3 | g.15644354T>A | CA351606215 | BTD | c.438T>A (p.Asp146Glu) c.399+2297T>A (n.399+2297T>A) c.165+2297T>A (n.165+2297T>A) c.498T>A (p.Asp166Glu) c.504T>A (p.Asp168Glu) c.216T>A (p.Asp72Glu) c.*2216T>A (n.*2216T>A) | gnomAD v4 |
| 3 | g.15644354T>C | CA432819056 | BTD | c.438T>C (p.Asp146=) c.399+2297T>C (n.399+2297T>C) c.165+2297T>C (n.165+2297T>C) c.498T>C (p.Asp166=) c.504T>C (p.Asp168=) c.216T>C (p.Asp72=) c.*2216T>C (n.*2216T>C) | |
| 3 | g.15644354T>G | CA351606216 | BTD | c.438T>G (p.Asp146Glu) c.399+2297T>G (n.399+2297T>G) c.165+2297T>G (n.165+2297T>G) c.498T>G (p.Asp166Glu) c.504T>G (p.Asp168Glu) c.216T>G (p.Asp72Glu) c.*2216T>G (n.*2216T>G) | gnomAD v4 |
| 3 | g.15644355A>C | CA351606217 | BTD | c.439A>C (p.Met147Leu) c.399+2298A>C (n.399+2298A>C) c.165+2298A>C (n.165+2298A>C) c.499A>C (p.Met167Leu) c.505A>C (p.Met169Leu) c.217A>C (p.Met73Leu) c.*2217A>C (n.*2217A>C) | |
| 3 | g.15644355A>G | CA351606218 | BTD | c.439A>G (p.Met147Val) c.399+2298A>G (n.399+2298A>G) c.165+2298A>G (n.165+2298A>G) c.499A>G (p.Met167Val) c.505A>G (p.Met169Val) c.217A>G (p.Met73Val) c.*2217A>G (n.*2217A>G) | |
| 3 | g.15644355A>T | CA351606219 | BTD | c.439A>T (p.Met147Leu) c.399+2298A>T (n.399+2298A>T) c.165+2298A>T (n.165+2298A>T) c.499A>T (p.Met167Leu) c.505A>T (p.Met169Leu) c.217A>T (p.Met73Leu) c.*2217A>T (n.*2217A>T) | |
| 3 | g.15644356T>A | CA351606220 | BTD | c.440T>A (p.Met147Lys) c.399+2299T>A (n.399+2299T>A) c.165+2299T>A (n.165+2299T>A) c.500T>A (p.Met167Lys) c.506T>A (p.Met169Lys) c.218T>A (p.Met73Lys) c.*2218T>A (n.*2218T>A) | |
| 3 | g.15644356T>C | CA351606221 | BTD | c.440T>C (p.Met147Thr) c.399+2299T>C (n.399+2299T>C) c.165+2299T>C (n.165+2299T>C) c.500T>C (p.Met167Thr) c.506T>C (p.Met169Thr) c.218T>C (p.Met73Thr) c.*2218T>C (n.*2218T>C) | gnomAD v4 |
| 3 | g.15644356T>G | CA351606222 | BTD | c.440T>G (p.Met147Arg) c.399+2299T>G (n.399+2299T>G) c.165+2299T>G (n.165+2299T>G) c.500T>G (p.Met167Arg) c.506T>G (p.Met169Arg) c.218T>G (p.Met73Arg) c.*2218T>G (n.*2218T>G) | |
| 3 | g.15644357G>A | CA351606223 | BTD | c.441G>A (p.Met147Ile) c.399+2300G>A (n.399+2300G>A) c.165+2300G>A (n.165+2300G>A) c.501G>A (p.Met167Ile) c.507G>A (p.Met169Ile) c.219G>A (p.Met73Ile) c.*2219G>A (n.*2219G>A) | |
| 3 | g.15644357G>C | CA351606224 | BTD | c.441G>C (p.Met147Ile) c.399+2300G>C (n.399+2300G>C) c.165+2300G>C (n.165+2300G>C) c.501G>C (p.Met167Ile) c.507G>C (p.Met169Ile) c.219G>C (p.Met73Ile) c.*2219G>C (n.*2219G>C) | |
| 3 | g.15644357G>T | CA351606225 | BTD | c.441G>T (p.Met147Ile) c.399+2300G>T (n.399+2300G>T) c.165+2300G>T (n.165+2300G>T) c.501G>T (p.Met167Ile) c.507G>T (p.Met169Ile) c.219G>T (p.Met73Ile) c.*2219G>T (n.*2219G>T) | |
| 3 | g.15644358T>A | CA351606226 | BTD | c.442T>A (p.Phe148Ile) c.399+2301T>A (n.399+2301T>A) c.165+2301T>A (n.165+2301T>A) c.502T>A (p.Phe168Ile) c.508T>A (p.Phe170Ile) c.220T>A (p.Phe74Ile) c.*2220T>A (n.*2220T>A) | |
| 3 | g.15644358T>C | CA351606227 | BTD | c.442T>C (p.Phe148Leu) c.399+2301T>C (n.399+2301T>C) c.165+2301T>C (n.165+2301T>C) c.502T>C (p.Phe168Leu) c.508T>C (p.Phe170Leu) c.220T>C (p.Phe74Leu) c.*2220T>C (n.*2220T>C) | |
| 3 | g.15644358T>G | CA351606228 | BTD | c.442T>G (p.Phe148Val) c.399+2301T>G (n.399+2301T>G) c.165+2301T>G (n.165+2301T>G) c.502T>G (p.Phe168Val) c.508T>G (p.Phe170Val) c.220T>G (p.Phe74Val) c.*2220T>G (n.*2220T>G) | |
| 3 | g.15644359T>A | CA351606231 | BTD | c.443T>A (p.Phe148Tyr) c.399+2302T>A (n.399+2302T>A) c.165+2302T>A (n.165+2302T>A) c.503T>A (p.Phe168Tyr) c.509T>A (p.Phe170Tyr) c.221T>A (p.Phe74Tyr) c.*2221T>A (n.*2221T>A) | |
| 3 | g.15644359T>C | CA351606230 | BTD | c.443T>C (p.Phe148Ser) c.399+2302T>C (n.399+2302T>C) c.165+2302T>C (n.165+2302T>C) c.503T>C (p.Phe168Ser) c.509T>C (p.Phe170Ser) c.221T>C (p.Phe74Ser) c.*2221T>C (n.*2221T>C) | |
| 3 | g.15644359T>G | CA351606229 | BTD | c.443T>G (p.Phe148Cys) c.399+2302T>G (n.399+2302T>G) c.165+2302T>G (n.165+2302T>G) c.503T>G (p.Phe168Cys) c.509T>G (p.Phe170Cys) c.221T>G (p.Phe74Cys) c.*2221T>G (n.*2221T>G) | |
| 3 | g.15644360C>A | CA351606232 | BTD | c.444C>A (p.Phe148Leu) c.399+2303C>A (n.399+2303C>A) c.165+2303C>A (n.165+2303C>A) c.504C>A (p.Phe168Leu) c.510C>A (p.Phe170Leu) c.222C>A (p.Phe74Leu) c.*2222C>A (n.*2222C>A) | ClinVar dbSNP |
| 3 | g.15644360C= | CA1347663557 | BTD | c.444C= (p.Phe148=) c.399+2303C= (n.399+2303C=) c.165+2303C= (n.165+2303C=) c.504C= (p.Phe168=) c.510C= (p.Phe170=) c.222C= (p.Phe74=) c.*2222C= (n.*2222C=) | |
| 3 | g.15644360C>G | CA351606233 | BTD | c.444C>G (p.Phe148Leu) c.399+2303C>G (n.399+2303C>G) c.165+2303C>G (n.165+2303C>G) c.504C>G (p.Phe168Leu) c.510C>G (p.Phe170Leu) c.222C>G (p.Phe74Leu) c.*2222C>G (n.*2222C>G) | |
| 3 | g.15644360C>T | CA2277338 | BTD | c.444C>T (p.Phe148=) c.399+2303C>T (n.399+2303C>T) c.165+2303C>T (n.165+2303C>T) c.504C>T (p.Phe168=) c.510C>T (p.Phe170=) c.222C>T (p.Phe74=) c.*2222C>T (n.*2222C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644361T>A | CA351606234 | BTD | c.445T>A (p.Leu149Met) c.399+2304T>A (n.399+2304T>A) c.165+2304T>A (n.165+2304T>A) c.505T>A (p.Leu169Met) c.511T>A (p.Leu171Met) c.223T>A (p.Leu75Met) c.*2223T>A (n.*2223T>A) | |
| 3 | g.15644361T>C | CA432819057 | BTD | c.445T>C (p.Leu149=) c.399+2304T>C (n.399+2304T>C) c.165+2304T>C (n.165+2304T>C) c.505T>C (p.Leu169=) c.511T>C (p.Leu171=) c.223T>C (p.Leu75=) c.*2223T>C (n.*2223T>C) | |
| 3 | g.15644361T>G | CA351606235 | BTD | c.445T>G (p.Leu149Val) c.399+2304T>G (n.399+2304T>G) c.165+2304T>G (n.165+2304T>G) c.505T>G (p.Leu169Val) c.511T>G (p.Leu171Val) c.223T>G (p.Leu75Val) c.*2223T>G (n.*2223T>G) | |
| 3 | g.15644361T= | CA1347663559 | BTD | c.445T= (p.Leu149=) c.399+2304T= (n.399+2304T=) c.165+2304T= (n.165+2304T=) c.505T= (p.Leu169=) c.511T= (p.Leu171=) c.223T= (p.Leu75=) c.*2223T= (n.*2223T=) | |
| 3 | g.15644361_15644362insCGG | CA541677856 | BTD | c.445_446insCGG (p.Leu149delinsSerVal) c.399+2304_399+2305insCGG (n.399+2304_399+2305insCGG) c.165+2304_165+2305insCGG (n.165+2304_165+2305insCGG) c.505_506insCGG (p.Leu169delinsSerVal) c.511_512insCGG (p.Leu171delinsSerVal) c.223_224insCGG (p.Leu75delinsSerVal) c.*2223_*2224insCGG (n.*2223_*2224insCGG) | dbSNP gnomAD v2 |
| 3 | g.15644362T>A | CA351606236 | BTD | c.446T>A (p.Leu149Ter) c.399+2305T>A (n.399+2305T>A) c.165+2305T>A (n.165+2305T>A) c.506T>A (p.Leu169Ter) c.512T>A (p.Leu171Ter) c.224T>A (p.Leu75Ter) c.*2224T>A (n.*2224T>A) | |
| 3 | g.15644362T>C | CA351606237 | BTD | c.446T>C (p.Leu149Ser) c.399+2305T>C (n.399+2305T>C) c.165+2305T>C (n.165+2305T>C) c.506T>C (p.Leu169Ser) c.512T>C (p.Leu171Ser) c.224T>C (p.Leu75Ser) c.*2224T>C (n.*2224T>C) | gnomAD v4 |
| 3 | g.15644362T>G | CA351606238 | BTD | c.446T>G (p.Leu149Trp) c.399+2305T>G (n.399+2305T>G) c.165+2305T>G (n.165+2305T>G) c.506T>G (p.Leu169Trp) c.512T>G (p.Leu171Trp) c.224T>G (p.Leu75Trp) c.*2224T>G (n.*2224T>G) | |
| 3 | g.15644363G>A | CA432819058 | BTD | c.447G>A (p.Leu149=) c.399+2306G>A (n.399+2306G>A) c.165+2306G>A (n.165+2306G>A) c.507G>A (p.Leu169=) c.513G>A (p.Leu171=) c.225G>A (p.Leu75=) c.*2225G>A (n.*2225G>A) | |
| 3 | g.15644363G>C | CA351606239 | BTD | c.447G>C (p.Leu149Phe) c.399+2306G>C (n.399+2306G>C) c.165+2306G>C (n.165+2306G>C) c.507G>C (p.Leu169Phe) c.513G>C (p.Leu171Phe) c.225G>C (p.Leu75Phe) c.*2225G>C (n.*2225G>C) | |
| 3 | g.15644363G>T | CA351606240 | BTD | c.447G>T (p.Leu149Phe) c.399+2306G>T (n.399+2306G>T) c.165+2306G>T (n.165+2306G>T) c.507G>T (p.Leu169Phe) c.513G>T (p.Leu171Phe) c.225G>T (p.Leu75Phe) c.*2225G>T (n.*2225G>T) | |
| 3 | g.15644364G>A | CA351606241 | BTD | c.448G>A (p.Val150Met) c.399+2307G>A (n.399+2307G>A) c.165+2307G>A (n.165+2307G>A) c.508G>A (p.Val170Met) c.514G>A (p.Val172Met) c.226G>A (p.Val76Met) c.*2226G>A (n.*2226G>A) | |
| 3 | g.15644364G>C | CA351606242 | BTD | c.448G>C (p.Val150Leu) c.399+2307G>C (n.399+2307G>C) c.165+2307G>C (n.165+2307G>C) c.508G>C (p.Val170Leu) c.514G>C (p.Val172Leu) c.226G>C (p.Val76Leu) c.*2226G>C (n.*2226G>C) | |
| 3 | g.15644364G>T | CA351606243 | BTD | c.448G>T (p.Val150Leu) c.399+2307G>T (n.399+2307G>T) c.165+2307G>T (n.165+2307G>T) c.508G>T (p.Val170Leu) c.514G>T (p.Val172Leu) c.226G>T (p.Val76Leu) c.*2226G>T (n.*2226G>T) | |
| 3 | g.15644365T>A | CA351606245 | BTD | c.449T>A (p.Val150Glu) c.399+2308T>A (n.399+2308T>A) c.165+2308T>A (n.165+2308T>A) c.509T>A (p.Val170Glu) c.515T>A (p.Val172Glu) c.227T>A (p.Val76Glu) c.*2227T>A (n.*2227T>A) | |
| 3 | g.15644365T>C | CA351606246 | BTD | c.449T>C (p.Val150Ala) c.399+2308T>C (n.399+2308T>C) c.165+2308T>C (n.165+2308T>C) c.509T>C (p.Val170Ala) c.515T>C (p.Val172Ala) c.227T>C (p.Val76Ala) c.*2227T>C (n.*2227T>C) | ClinVar dbSNP |
| 3 | g.15644365T>G | CA351606244 | BTD | c.449T>G (p.Val150Gly) c.399+2308T>G (n.399+2308T>G) c.165+2308T>G (n.165+2308T>G) c.509T>G (p.Val170Gly) c.515T>G (p.Val172Gly) c.227T>G (p.Val76Gly) c.*2227T>G (n.*2227T>G) | |
| 3 | g.15644365T= | CA1347663562 | BTD | c.449T= (p.Val150=) c.399+2308T= (n.399+2308T=) c.165+2308T= (n.165+2308T=) c.509T= (p.Val170=) c.515T= (p.Val172=) c.227T= (p.Val76=) c.*2227T= (n.*2227T=) |