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 |
|---|---|---|---|---|---|
| 2 | g.151562634_151562644del | CA10603857 | NEB | c.1713_1723del c.18862_18872del (p.Val6288ProfsTer6) c.13759_13769del (p.Val4587ProfsTer6) c.3052_3062del (p.Val1018ProfsTer6) c.18133_18143del (p.Val6045ProfsTer6) c.15946_15956del (p.Val5316ProfsTer6) c.16675_16685del (p.Val5559ProfsTer6) c.14488_14498del (p.Val4830ProfsTer6) | ClinVar dbSNP |
| 2 | g.151562641G>A | CA1907833 | NEB | c.1712C>T c.18861C>T (p.Arg6287=) c.13758C>T (p.Arg4586=) c.3051C>T (p.Arg1017=) c.18132C>T (p.Arg6044=) c.15945C>T (p.Arg5315=) c.16674C>T (p.Arg5558=) c.14487C>T (p.Arg4829=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151562641G>C | CA429237737 | NEB | c.1712C>G c.18861C>G (p.Arg6287=) c.13758C>G (p.Arg4586=) c.3051C>G (p.Arg1017=) c.18132C>G (p.Arg6044=) c.15945C>G (p.Arg5315=) c.16674C>G (p.Arg5558=) c.14487C>G (p.Arg4829=) | |
| 2 | g.151562641G= | CA1298179259 | NEB | c.1712C= c.18861C= (p.Arg6287=) c.13758C= (p.Arg4586=) c.3051C= (p.Arg1017=) c.18132C= (p.Arg6044=) c.15945C= (p.Arg5315=) c.16674C= (p.Arg5558=) c.14487C= (p.Arg4829=) | |
| 2 | g.151562641G>T | CA429237741 | NEB | c.1712C>A c.18861C>A (p.Arg6287=) c.13758C>A (p.Arg4586=) c.3051C>A (p.Arg1017=) c.18132C>A (p.Arg6044=) c.15945C>A (p.Arg5315=) c.16674C>A (p.Arg5558=) c.14487C>A (p.Arg4829=) | |
| 2 | g.151562642C>A | CA348797381 | NEB | c.1711G>T c.18860G>T (p.Arg6287Leu) c.13757G>T (p.Arg4586Leu) c.3050G>T (p.Arg1017Leu) c.18131G>T (p.Arg6044Leu) c.15944G>T (p.Arg5315Leu) c.16673G>T (p.Arg5558Leu) c.14486G>T (p.Arg4829Leu) | gnomAD v4 |
| 2 | g.151562642C= | CA1298179260 | NEB | c.1711G= c.18860G= (p.Arg6287=) c.13757G= (p.Arg4586=) c.3050G= (p.Arg1017=) c.18131G= (p.Arg6044=) c.15944G= (p.Arg5315=) c.16673G= (p.Arg5558=) c.14486G= (p.Arg4829=) | |
| 2 | g.151562642C>G | CA57656068 | NEB | c.1711G>C c.18860G>C (p.Arg6287Pro) c.13757G>C (p.Arg4586Pro) c.3050G>C (p.Arg1017Pro) c.18131G>C (p.Arg6044Pro) c.15944G>C (p.Arg5315Pro) c.16673G>C (p.Arg5558Pro) c.14486G>C (p.Arg4829Pro) | dbSNP gnomAD v4 |
| 2 | g.151562642C>T | CA1907834 | NEB | c.1711G>A c.18860G>A (p.Arg6287His) c.13757G>A (p.Arg4586His) c.3050G>A (p.Arg1017His) c.18131G>A (p.Arg6044His) c.15944G>A (p.Arg5315His) c.16673G>A (p.Arg5558His) c.14486G>A (p.Arg4829His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151562643G>A | CA1907835 | NEB | c.1710C>T c.18859C>T (p.Arg6287Cys) c.13756C>T (p.Arg4586Cys) c.3049C>T (p.Arg1017Cys) c.18130C>T (p.Arg6044Cys) c.15943C>T (p.Arg5315Cys) c.16672C>T (p.Arg5558Cys) c.14485C>T (p.Arg4829Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151562643G>C | CA348797385 | NEB | c.1710C>G c.18859C>G (p.Arg6287Gly) c.13756C>G (p.Arg4586Gly) c.3049C>G (p.Arg1017Gly) c.18130C>G (p.Arg6044Gly) c.15943C>G (p.Arg5315Gly) c.16672C>G (p.Arg5558Gly) c.14485C>G (p.Arg4829Gly) | |
| 2 | g.151562643G= | CA1298179261 | NEB | c.1710C= c.18859C= (p.Arg6287=) c.13756C= (p.Arg4586=) c.3049C= (p.Arg1017=) c.18130C= (p.Arg6044=) c.15943C= (p.Arg5315=) c.16672C= (p.Arg5558=) c.14485C= (p.Arg4829=) | |
| 2 | g.151562643G>T | CA348797388 | NEB | c.1710C>A c.18859C>A (p.Arg6287Ser) c.13756C>A (p.Arg4586Ser) c.3049C>A (p.Arg1017Ser) c.18130C>A (p.Arg6044Ser) c.15943C>A (p.Arg5315Ser) c.16672C>A (p.Arg5558Ser) c.14485C>A (p.Arg4829Ser) | |
| 2 | g.151562644T>A | CA429237775 | NEB | c.1709A>T c.18858A>T (p.Ile6286=) c.13755A>T (p.Ile4585=) c.3048A>T (p.Ile1016=) c.18129A>T (p.Ile6043=) c.15942A>T (p.Ile5314=) c.16671A>T (p.Ile5557=) c.14484A>T (p.Ile4828=) | |
| 2 | g.151562644T>C | CA1907836 | NEB | c.1709A>G c.18858A>G (p.Ile6286Met) c.13755A>G (p.Ile4585Met) c.3048A>G (p.Ile1016Met) c.18129A>G (p.Ile6043Met) c.15942A>G (p.Ile5314Met) c.16671A>G (p.Ile5557Met) c.14484A>G (p.Ile4828Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151562644T>G | CA429237773 | NEB | c.1709A>C c.18858A>C (p.Ile6286=) c.13755A>C (p.Ile4585=) c.3048A>C (p.Ile1016=) c.18129A>C (p.Ile6043=) c.15942A>C (p.Ile5314=) c.16671A>C (p.Ile5557=) c.14484A>C (p.Ile4828=) | |
| 2 | g.151562644T= | CA1298179262 | NEB | c.1709A= c.18858A= (p.Ile6286=) c.13755A= (p.Ile4585=) c.3048A= (p.Ile1016=) c.18129A= (p.Ile6043=) c.15942A= (p.Ile5314=) c.16671A= (p.Ile5557=) c.14484A= (p.Ile4828=) | |
| 2 | g.151562645A= | CA1298179263 | NEB | c.1708T= c.18857T= (p.Ile6286=) c.13754T= (p.Ile4585=) c.3047T= (p.Ile1016=) c.18128T= (p.Ile6043=) c.15941T= (p.Ile5314=) c.16670T= (p.Ile5557=) c.14483T= (p.Ile4828=) | |
| 2 | g.151562645A>C | CA348797391 | NEB | c.1708T>G c.18857T>G (p.Ile6286Arg) c.13754T>G (p.Ile4585Arg) c.3047T>G (p.Ile1016Arg) c.18128T>G (p.Ile6043Arg) c.15941T>G (p.Ile5314Arg) c.16670T>G (p.Ile5557Arg) c.14483T>G (p.Ile4828Arg) | |
| 2 | g.151562645A>G | CA1907837 | NEB | c.1708T>C c.18857T>C (p.Ile6286Thr) c.13754T>C (p.Ile4585Thr) c.3047T>C (p.Ile1016Thr) c.18128T>C (p.Ile6043Thr) c.15941T>C (p.Ile5314Thr) c.16670T>C (p.Ile5557Thr) c.14483T>C (p.Ile4828Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.151562645A>T | CA348797395 | NEB | c.1708T>A c.18857T>A (p.Ile6286Lys) c.13754T>A (p.Ile4585Lys) c.3047T>A (p.Ile1016Lys) c.18128T>A (p.Ile6043Lys) c.15941T>A (p.Ile5314Lys) c.16670T>A (p.Ile5557Lys) c.14483T>A (p.Ile4828Lys) | |
| 2 | g.151562646T>A | CA348797396 | NEB | c.1707A>T c.18856A>T (p.Ile6286Leu) c.13753A>T (p.Ile4585Leu) c.3046A>T (p.Ile1016Leu) c.18127A>T (p.Ile6043Leu) c.15940A>T (p.Ile5314Leu) c.16669A>T (p.Ile5557Leu) c.14482A>T (p.Ile4828Leu) | |
| 2 | g.151562646T>C | CA348797397 | NEB | c.1707A>G c.18856A>G (p.Ile6286Val) c.13753A>G (p.Ile4585Val) c.3046A>G (p.Ile1016Val) c.18127A>G (p.Ile6043Val) c.15940A>G (p.Ile5314Val) c.16669A>G (p.Ile5557Val) c.14482A>G (p.Ile4828Val) | dbSNP |
| 2 | g.151562646T>G | CA348797398 | NEB | c.1707A>C c.18856A>C (p.Ile6286Leu) c.13753A>C (p.Ile4585Leu) c.3046A>C (p.Ile1016Leu) c.18127A>C (p.Ile6043Leu) c.15940A>C (p.Ile5314Leu) c.16669A>C (p.Ile5557Leu) c.14482A>C (p.Ile4828Leu) | |
| 2 | g.151562646T= | CA1298179264 | NEB | c.1707A= c.18856A= (p.Ile6286=) c.13753A= (p.Ile4585=) c.3046A= (p.Ile1016=) c.18127A= (p.Ile6043=) c.15940A= (p.Ile5314=) c.16669A= (p.Ile5557=) c.14482A= (p.Ile4828=) | |
| 2 | g.151562647A>C | CA429237792 | NEB | c.1706T>G c.18855T>G (p.Val6285=) c.13752T>G (p.Val4584=) c.3045T>G (p.Val1015=) c.18126T>G (p.Val6042=) c.15939T>G (p.Val5313=) c.16668T>G (p.Val5556=) c.14481T>G (p.Val4827=) | |
| 2 | g.151562647A>G | CA429237793 | NEB | c.1706T>C c.18855T>C (p.Val6285=) c.13752T>C (p.Val4584=) c.3045T>C (p.Val1015=) c.18126T>C (p.Val6042=) c.15939T>C (p.Val5313=) c.16668T>C (p.Val5556=) c.14481T>C (p.Val4827=) | |
| 2 | g.151562647A>T | CA429237794 | NEB | c.1706T>A c.18855T>A (p.Val6285=) c.13752T>A (p.Val4584=) c.3045T>A (p.Val1015=) c.18126T>A (p.Val6042=) c.15939T>A (p.Val5313=) c.16668T>A (p.Val5556=) c.14481T>A (p.Val4827=) | |
| 2 | g.151562648A>C | CA348797399 | NEB | c.1705T>G c.18854T>G (p.Val6285Gly) c.13751T>G (p.Val4584Gly) c.3044T>G (p.Val1015Gly) c.18125T>G (p.Val6042Gly) c.15938T>G (p.Val5313Gly) c.16667T>G (p.Val5556Gly) c.14480T>G (p.Val4827Gly) | |
| 2 | g.151562648A>G | CA348797400 | NEB | c.1705T>C c.18854T>C (p.Val6285Ala) c.13751T>C (p.Val4584Ala) c.3044T>C (p.Val1015Ala) c.18125T>C (p.Val6042Ala) c.15938T>C (p.Val5313Ala) c.16667T>C (p.Val5556Ala) c.14480T>C (p.Val4827Ala) | |
| 2 | g.151562648A>T | CA348797401 | NEB | c.1705T>A c.18854T>A (p.Val6285Asp) c.13751T>A (p.Val4584Asp) c.3044T>A (p.Val1015Asp) c.18125T>A (p.Val6042Asp) c.15938T>A (p.Val5313Asp) c.16667T>A (p.Val5556Asp) c.14480T>A (p.Val4827Asp) | |
| 2 | g.151562649C>A | CA348797402 | NEB | c.1704G>T c.18853G>T (p.Val6285Phe) c.13750G>T (p.Val4584Phe) c.3043G>T (p.Val1015Phe) c.18124G>T (p.Val6042Phe) c.15937G>T (p.Val5313Phe) c.16666G>T (p.Val5556Phe) c.14479G>T (p.Val4827Phe) | |
| 2 | g.151562649C>G | CA348797404 | NEB | c.1704G>C c.18853G>C (p.Val6285Leu) c.13750G>C (p.Val4584Leu) c.3043G>C (p.Val1015Leu) c.18124G>C (p.Val6042Leu) c.15937G>C (p.Val5313Leu) c.16666G>C (p.Val5556Leu) c.14479G>C (p.Val4827Leu) | |
| 2 | g.151562649C>T | CA348797405 | NEB | c.1704G>A c.18853G>A (p.Val6285Ile) c.13750G>A (p.Val4584Ile) c.3043G>A (p.Val1015Ile) c.18124G>A (p.Val6042Ile) c.15937G>A (p.Val5313Ile) c.16666G>A (p.Val5556Ile) c.14479G>A (p.Val4827Ile) | |
| 2 | g.151562650A= | CA1298179265 | NEB | c.1703T= c.18852T= (p.Asn6284=) c.13749T= (p.Asn4583=) c.3042T= (p.Asn1014=) c.18123T= (p.Asn6041=) c.15936T= (p.Asn5312=) c.16665T= (p.Asn5555=) c.14478T= (p.Asn4826=) | |
| 2 | g.151562650A>C | CA348797412 | NEB | c.1703T>G c.18852T>G (p.Asn6284Lys) c.13749T>G (p.Asn4583Lys) c.3042T>G (p.Asn1014Lys) c.18123T>G (p.Asn6041Lys) c.15936T>G (p.Asn5312Lys) c.16665T>G (p.Asn5555Lys) c.14478T>G (p.Asn4826Lys) | |
| 2 | g.151562650A>G | CA429237797 | NEB | c.1703T>C c.18852T>C (p.Asn6284=) c.13749T>C (p.Asn4583=) c.3042T>C (p.Asn1014=) c.18123T>C (p.Asn6041=) c.15936T>C (p.Asn5312=) c.16665T>C (p.Asn5555=) c.14478T>C (p.Asn4826=) | ClinVar dbSNP |
| 2 | g.151562650A>T | CA348797414 | NEB | c.1703T>A c.18852T>A (p.Asn6284Lys) c.13749T>A (p.Asn4583Lys) c.3042T>A (p.Asn1014Lys) c.18123T>A (p.Asn6041Lys) c.15936T>A (p.Asn5312Lys) c.16665T>A (p.Asn5555Lys) c.14478T>A (p.Asn4826Lys) | |
| 2 | g.151562651T>A | CA348797418 | NEB | c.1702A>T c.18851A>T (p.Asn6284Ile) c.13748A>T (p.Asn4583Ile) c.3041A>T (p.Asn1014Ile) c.18122A>T (p.Asn6041Ile) c.15935A>T (p.Asn5312Ile) c.16664A>T (p.Asn5555Ile) c.14477A>T (p.Asn4826Ile) | gnomAD v4 |
| 2 | g.151562651T>C | CA348797422 | NEB | c.1702A>G c.18851A>G (p.Asn6284Ser) c.13748A>G (p.Asn4583Ser) c.3041A>G (p.Asn1014Ser) c.18122A>G (p.Asn6041Ser) c.15935A>G (p.Asn5312Ser) c.16664A>G (p.Asn5555Ser) c.14477A>G (p.Asn4826Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.151562651T>G | CA348797421 | NEB | c.1702A>C c.18851A>C (p.Asn6284Thr) c.13748A>C (p.Asn4583Thr) c.3041A>C (p.Asn1014Thr) c.18122A>C (p.Asn6041Thr) c.15935A>C (p.Asn5312Thr) c.16664A>C (p.Asn5555Thr) c.14477A>C (p.Asn4826Thr) | dbSNP gnomAD v2 |
| 2 | g.151562651T= | CA1298179266 | NEB | c.1702A= c.18851A= (p.Asn6284=) c.13748A= (p.Asn4583=) c.3041A= (p.Asn1014=) c.18122A= (p.Asn6041=) c.15935A= (p.Asn5312=) c.16664A= (p.Asn5555=) c.14477A= (p.Asn4826=) | |
| 2 | g.151562652T>A | CA348797425 | NEB | c.1701A>T c.18850A>T (p.Asn6284Tyr) c.13747A>T (p.Asn4583Tyr) c.3040A>T (p.Asn1014Tyr) c.18121A>T (p.Asn6041Tyr) c.15934A>T (p.Asn5312Tyr) c.16663A>T (p.Asn5555Tyr) c.14476A>T (p.Asn4826Tyr) | |
| 2 | g.151562652T>C | CA348797433 | NEB | c.1701A>G c.18850A>G (p.Asn6284Asp) c.13747A>G (p.Asn4583Asp) c.3040A>G (p.Asn1014Asp) c.18121A>G (p.Asn6041Asp) c.15934A>G (p.Asn5312Asp) c.16663A>G (p.Asn5555Asp) c.14476A>G (p.Asn4826Asp) | gnomAD v4 |
| 2 | g.151562652T>G | CA348797435 | NEB | c.1701A>C c.18850A>C (p.Asn6284His) c.13747A>C (p.Asn4583His) c.3040A>C (p.Asn1014His) c.18121A>C (p.Asn6041His) c.15934A>C (p.Asn5312His) c.16663A>C (p.Asn5555His) c.14476A>C (p.Asn4826His) | |
| 2 | g.151562653G>A | CA1907838 | NEB | c.1700C>T c.18849C>T (p.Pro6283=) c.13746C>T (p.Pro4582=) c.3039C>T (p.Pro1013=) c.18120C>T (p.Pro6040=) c.15933C>T (p.Pro5311=) c.16662C>T (p.Pro5554=) c.14475C>T (p.Pro4825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.151562653G>C | CA429237806 | NEB | c.1700C>G c.18849C>G (p.Pro6283=) c.13746C>G (p.Pro4582=) c.3039C>G (p.Pro1013=) c.18120C>G (p.Pro6040=) c.15933C>G (p.Pro5311=) c.16662C>G (p.Pro5554=) c.14475C>G (p.Pro4825=) | |
| 2 | g.151562653G= | CA1298179267 | NEB | c.1700C= c.18849C= (p.Pro6283=) c.13746C= (p.Pro4582=) c.3039C= (p.Pro1013=) c.18120C= (p.Pro6040=) c.15933C= (p.Pro5311=) c.16662C= (p.Pro5554=) c.14475C= (p.Pro4825=) | |
| 2 | g.151562653G>T | CA429237808 | NEB | c.1700C>A c.18849C>A (p.Pro6283=) c.13746C>A (p.Pro4582=) c.3039C>A (p.Pro1013=) c.18120C>A (p.Pro6040=) c.15933C>A (p.Pro5311=) c.16662C>A (p.Pro5554=) c.14475C>A (p.Pro4825=) | |
| 2 | g.151562654G>A | CA348797439 | NEB | c.1699C>T c.18848C>T (p.Pro6283Leu) c.13745C>T (p.Pro4582Leu) c.3038C>T (p.Pro1013Leu) c.18119C>T (p.Pro6040Leu) c.15932C>T (p.Pro5311Leu) c.16661C>T (p.Pro5554Leu) c.14474C>T (p.Pro4825Leu) |