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 |
|---|---|---|---|---|---|
| 1 | g.7809900A= | CA1141671906 | PER3 | c.1250A= (p.His417=) c.1247A= (p.His416=) n.268A= c.293A= (p.His98=) c.725A= (p.His242=) c.1082A= (p.His361=) c.902A= (p.His301=) c.887A= (p.His296=) c.-122A= (n.-122A=) | |
| 1 | g.7809900A>C | CA338139640 | PER3 | c.1250A>C (p.His417Pro) c.1247A>C (p.His416Pro) n.268A>C c.293A>C (p.His98Pro) c.725A>C (p.His242Pro) c.1082A>C (p.His361Pro) c.902A>C (p.His301Pro) c.887A>C (p.His296Pro) c.-122A>C (n.-122A>C) | |
| 1 | g.7809900A>G | CA355000 | PER3 | c.1250A>G (p.His417Arg) c.1247A>G (p.His416Arg) n.268A>G c.293A>G (p.His98Arg) c.725A>G (p.His242Arg) c.1082A>G (p.His361Arg) c.902A>G (p.His301Arg) c.887A>G (p.His296Arg) c.-122A>G (n.-122A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809900A>T | CA338139636 | PER3 | c.1250A>T (p.His417Leu) c.1247A>T (p.His416Leu) n.268A>T c.293A>T (p.His98Leu) c.725A>T (p.His242Leu) c.1082A>T (p.His361Leu) c.902A>T (p.His301Leu) c.887A>T (p.His296Leu) c.-122A>T (n.-122A>T) | |
| 1 | g.7809901C>A | CA338139644 | PER3 | c.1251C>A (p.His417Gln) c.1248C>A (p.His416Gln) n.269C>A c.294C>A (p.His98Gln) c.726C>A (p.His242Gln) c.1083C>A (p.His361Gln) c.903C>A (p.His301Gln) c.888C>A (p.His296Gln) c.-121C>A (n.-121C>A) | |
| 1 | g.7809901C= | CA1143801519 | PER3 | c.1251C= (p.His417=) c.1248C= (p.His416=) n.269C= c.294C= (p.His98=) c.726C= (p.His242=) c.1083C= (p.His361=) c.903C= (p.His301=) c.888C= (p.His296=) c.-121C= (n.-121C=) | |
| 1 | g.7809901C>G | CA338139647 | PER3 | c.1251C>G (p.His417Gln) c.1248C>G (p.His416Gln) n.269C>G c.294C>G (p.His98Gln) c.726C>G (p.His242Gln) c.1083C>G (p.His361Gln) c.903C>G (p.His301Gln) c.888C>G (p.His296Gln) c.-121C>G (n.-121C>G) | |
| 1 | g.7809901C>T | CA568031 | PER3 | c.1251C>T (p.His417=) c.1248C>T (p.His416=) n.269C>T c.294C>T (p.His98=) c.726C>T (p.His242=) c.1083C>T (p.His361=) c.903C>T (p.His301=) c.888C>T (p.His296=) c.-121C>T (n.-121C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809902G>A | CA568032 | PER3 | c.1252G>A (p.Val418Met) c.1249G>A (p.Val417Met) n.270G>A c.295G>A (p.Val99Met) c.727G>A (p.Val243Met) c.1084G>A (p.Val362Met) c.904G>A (p.Val302Met) c.889G>A (p.Val297Met) c.-120G>A (n.-120G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809902G>C | CA568033 | PER3 | c.1252G>C (p.Val418Leu) c.1249G>C (p.Val417Leu) n.270G>C c.295G>C (p.Val99Leu) c.727G>C (p.Val243Leu) c.1084G>C (p.Val362Leu) c.904G>C (p.Val302Leu) c.889G>C (p.Val297Leu) c.-120G>C (n.-120G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7809902G= | CA1142354927 | PER3 | c.1252G= (p.Val418=) c.1249G= (p.Val417=) n.270G= c.295G= (p.Val99=) c.727G= (p.Val243=) c.1084G= (p.Val362=) c.904G= (p.Val302=) c.889G= (p.Val297=) c.-120G= (n.-120G=) | |
| 1 | g.7809902G>T | CA338139656 | PER3 | c.1252G>T (p.Val418Leu) c.1249G>T (p.Val417Leu) n.270G>T c.295G>T (p.Val99Leu) c.727G>T (p.Val243Leu) c.1084G>T (p.Val362Leu) c.904G>T (p.Val302Leu) c.889G>T (p.Val297Leu) c.-120G>T (n.-120G>T) | gnomAD v4 |
| 1 | g.7809903T>A | CA338139660 | PER3 | c.1253T>A (p.Val418Glu) c.1250T>A (p.Val417Glu) n.271T>A c.296T>A (p.Val99Glu) c.728T>A (p.Val243Glu) c.1085T>A (p.Val362Glu) c.905T>A (p.Val302Glu) c.890T>A (p.Val297Glu) c.-119T>A (n.-119T>A) | |
| 1 | g.7809903T>C | CA338139664 | PER3 | c.1253T>C (p.Val418Ala) c.1250T>C (p.Val417Ala) n.271T>C c.296T>C (p.Val99Ala) c.728T>C (p.Val243Ala) c.1085T>C (p.Val362Ala) c.905T>C (p.Val302Ala) c.890T>C (p.Val297Ala) c.-119T>C (n.-119T>C) | |
| 1 | g.7809903T>G | CA338139663 | PER3 | c.1253T>G (p.Val418Gly) c.1250T>G (p.Val417Gly) n.271T>G c.296T>G (p.Val99Gly) c.728T>G (p.Val243Gly) c.1085T>G (p.Val362Gly) c.905T>G (p.Val302Gly) c.890T>G (p.Val297Gly) c.-119T>G (n.-119T>G) | |
| 1 | g.7809904G>A | CA415835986 | PER3 | c.1254G>A (p.Val418=) c.1251G>A (p.Val417=) n.272G>A c.297G>A (p.Val99=) c.729G>A (p.Val243=) c.1086G>A (p.Val362=) c.906G>A (p.Val302=) c.891G>A (p.Val297=) c.-118G>A (n.-118G>A) | |
| 1 | g.7809904G>C | CA415835987 | PER3 | c.1254G>C (p.Val418=) c.1251G>C (p.Val417=) n.272G>C c.297G>C (p.Val99=) c.729G>C (p.Val243=) c.1086G>C (p.Val362=) c.906G>C (p.Val302=) c.891G>C (p.Val297=) c.-118G>C (n.-118G>C) | |
| 1 | g.7809904G>T | CA415835988 | PER3 | c.1254G>T (p.Val418=) c.1251G>T (p.Val417=) n.272G>T c.297G>T (p.Val99=) c.729G>T (p.Val243=) c.1086G>T (p.Val362=) c.906G>T (p.Val302=) c.891G>T (p.Val297=) c.-118G>T (n.-118G>T) | gnomAD v4 |
| 1 | g.7809905A>C | CA338139669 | PER3 | c.1255A>C (p.Ser419Arg) c.1252A>C (p.Ser418Arg) n.273A>C c.298A>C (p.Ser100Arg) c.730A>C (p.Ser244Arg) c.1087A>C (p.Ser363Arg) c.907A>C (p.Ser303Arg) c.892A>C (p.Ser298Arg) c.-117A>C (n.-117A>C) | |
| 1 | g.7809905A>G | CA338139671 | PER3 | c.1255A>G (p.Ser419Gly) c.1252A>G (p.Ser418Gly) n.273A>G c.298A>G (p.Ser100Gly) c.730A>G (p.Ser244Gly) c.1087A>G (p.Ser363Gly) c.907A>G (p.Ser303Gly) c.892A>G (p.Ser298Gly) c.-117A>G (n.-117A>G) | |
| 1 | g.7809905A>T | CA338139674 | PER3 | c.1255A>T (p.Ser419Cys) c.1252A>T (p.Ser418Cys) n.273A>T c.298A>T (p.Ser100Cys) c.730A>T (p.Ser244Cys) c.1087A>T (p.Ser363Cys) c.907A>T (p.Ser303Cys) c.892A>T (p.Ser298Cys) c.-117A>T (n.-117A>T) | |
| 1 | g.7809906G>A | CA338139678 | PER3 | c.1256G>A (p.Ser419Asn) c.1253G>A (p.Ser418Asn) n.274G>A c.299G>A (p.Ser100Asn) c.731G>A (p.Ser244Asn) c.1088G>A (p.Ser363Asn) c.908G>A (p.Ser303Asn) c.893G>A (p.Ser298Asn) c.-116G>A (n.-116G>A) | gnomAD v4 |
| 1 | g.7809906G>C | CA338139680 | PER3 | c.1256G>C (p.Ser419Thr) c.1253G>C (p.Ser418Thr) n.274G>C c.299G>C (p.Ser100Thr) c.731G>C (p.Ser244Thr) c.1088G>C (p.Ser363Thr) c.908G>C (p.Ser303Thr) c.893G>C (p.Ser298Thr) c.-116G>C (n.-116G>C) | |
| 1 | g.7809906G>T | CA338139681 | PER3 | c.1256G>T (p.Ser419Ile) c.1253G>T (p.Ser418Ile) n.274G>T c.299G>T (p.Ser100Ile) c.731G>T (p.Ser244Ile) c.1088G>T (p.Ser363Ile) c.908G>T (p.Ser303Ile) c.893G>T (p.Ser298Ile) c.-116G>T (n.-116G>T) | |
| 1 | g.7809907C>A | CA338139684 | PER3 | c.1257C>A (p.Ser419Arg) c.1254C>A (p.Ser418Arg) n.275C>A c.300C>A (p.Ser100Arg) c.732C>A (p.Ser244Arg) c.1089C>A (p.Ser363Arg) c.909C>A (p.Ser303Arg) c.894C>A (p.Ser298Arg) c.-115C>A (n.-115C>A) | gnomAD v4 |
| 1 | g.7809907C= | CA1152041775 | PER3 | c.1257C= (p.Ser419=) c.1254C= (p.Ser418=) n.275C= c.300C= (p.Ser100=) c.732C= (p.Ser244=) c.1089C= (p.Ser363=) c.909C= (p.Ser303=) c.894C= (p.Ser298=) c.-115C= (n.-115C=) | |
| 1 | g.7809907C>G | CA338139696 | PER3 | c.1257C>G (p.Ser419Arg) c.1254C>G (p.Ser418Arg) n.275C>G c.300C>G (p.Ser100Arg) c.732C>G (p.Ser244Arg) c.1089C>G (p.Ser363Arg) c.909C>G (p.Ser303Arg) c.894C>G (p.Ser298Arg) c.-115C>G (n.-115C>G) | |
| 1 | g.7809907C>T | CA568034 | PER3 | c.1257C>T (p.Ser419=) c.1254C>T (p.Ser418=) n.275C>T c.300C>T (p.Ser100=) c.732C>T (p.Ser244=) c.1089C>T (p.Ser363=) c.909C>T (p.Ser303=) c.894C>T (p.Ser298=) c.-115C>T (n.-115C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809908G>A | CA568035 | PER3 | c.1258G>A (p.Val420Met) c.1255G>A (p.Val419Met) n.276G>A c.301G>A (p.Val101Met) c.733G>A (p.Val245Met) c.1090G>A (p.Val364Met) c.910G>A (p.Val304Met) c.895G>A (p.Val299Met) c.-114G>A (n.-114G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7809908G>C | CA338139702 | PER3 | c.1258G>C (p.Val420Leu) c.1255G>C (p.Val419Leu) n.276G>C c.301G>C (p.Val101Leu) c.733G>C (p.Val245Leu) c.1090G>C (p.Val364Leu) c.910G>C (p.Val304Leu) c.895G>C (p.Val299Leu) c.-114G>C (n.-114G>C) | |
| 1 | g.7809908G= | CA1140571114 | PER3 | c.1258G= (p.Val420=) c.1255G= (p.Val419=) n.276G= c.301G= (p.Val101=) c.733G= (p.Val245=) c.1090G= (p.Val364=) c.910G= (p.Val304=) c.895G= (p.Val299=) c.-114G= (n.-114G=) | |
| 1 | g.7809908G>T | CA338139704 | PER3 | c.1258G>T (p.Val420Leu) c.1255G>T (p.Val419Leu) n.276G>T c.301G>T (p.Val101Leu) c.733G>T (p.Val245Leu) c.1090G>T (p.Val364Leu) c.910G>T (p.Val304Leu) c.895G>T (p.Val299Leu) c.-114G>T (n.-114G>T) | |
| 1 | g.7809909T>A | CA338139708 | PER3 | c.1259T>A (p.Val420Glu) c.1256T>A (p.Val419Glu) n.277T>A c.302T>A (p.Val101Glu) c.734T>A (p.Val245Glu) c.1091T>A (p.Val364Glu) c.911T>A (p.Val304Glu) c.896T>A (p.Val299Glu) c.-113T>A (n.-113T>A) | |
| 1 | g.7809909T>C | CA338139710 | PER3 | c.1259T>C (p.Val420Ala) c.1256T>C (p.Val419Ala) n.277T>C c.302T>C (p.Val101Ala) c.734T>C (p.Val245Ala) c.1091T>C (p.Val364Ala) c.911T>C (p.Val304Ala) c.896T>C (p.Val299Ala) c.-113T>C (n.-113T>C) | |
| 1 | g.7809909T>G | CA338139706 | PER3 | c.1259T>G (p.Val420Gly) c.1256T>G (p.Val419Gly) n.277T>G c.302T>G (p.Val101Gly) c.734T>G (p.Val245Gly) c.1091T>G (p.Val364Gly) c.911T>G (p.Val304Gly) c.896T>G (p.Val299Gly) c.-113T>G (n.-113T>G) | |
| 1 | g.7809909T= | CA1152041776 | PER3 | c.1259T= (p.Val420=) c.1256T= (p.Val419=) n.277T= c.302T= (p.Val101=) c.734T= (p.Val245=) c.1091T= (p.Val364=) c.911T= (p.Val304=) c.896T= (p.Val299=) c.-113T= (n.-113T=) | |
| 1 | g.7809910G>A | CA415835989 | PER3 | c.1260G>A (p.Val420=) c.1257G>A (p.Val419=) n.278G>A c.303G>A (p.Val101=) c.735G>A (p.Val245=) c.1092G>A (p.Val364=) c.912G>A (p.Val304=) c.897G>A (p.Val299=) c.-112G>A (n.-112G>A) | |
| 1 | g.7809910G>C | CA415835991 | PER3 | c.1260G>C (p.Val420=) c.1257G>C (p.Val419=) n.278G>C c.303G>C (p.Val101=) c.735G>C (p.Val245=) c.1092G>C (p.Val364=) c.912G>C (p.Val304=) c.897G>C (p.Val299=) c.-112G>C (n.-112G>C) | dbSNP |
| 1 | g.7809910G= | CA1152041777 | PER3 | c.1260G= (p.Val420=) c.1257G= (p.Val419=) n.278G= c.303G= (p.Val101=) c.735G= (p.Val245=) c.1092G= (p.Val364=) c.912G= (p.Val304=) c.897G= (p.Val299=) c.-112G= (n.-112G=) | |
| 1 | g.7809910G>T | CA415835990 | PER3 | c.1260G>T (p.Val420=) c.1257G>T (p.Val419=) n.278G>T c.303G>T (p.Val101=) c.735G>T (p.Val245=) c.1092G>T (p.Val364=) c.912G>T (p.Val304=) c.897G>T (p.Val299=) c.-112G>T (n.-112G>T) | gnomAD v4 |
| 1 | g.7809910dup | CA998286168 | PER3 | c.1260dup (p.Ser421ValfsTer24) c.1257dup (p.Ser420ValfsTer24) n.278dup c.303dup (p.Ser102ValfsTer24) c.735dup (p.Ser246ValfsTer24) c.1092dup (p.Ser365ValfsTer24) c.912dup (p.Ser305ValfsTer24) c.897dup (p.Ser300ValfsTer24) c.-112dup (n.-112dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7809911T>A | CA338139712 | PER3 | c.1261T>A (p.Ser421Thr) c.1258T>A (p.Ser420Thr) n.279T>A c.304T>A (p.Ser102Thr) c.736T>A (p.Ser246Thr) c.1093T>A (p.Ser365Thr) c.913T>A (p.Ser305Thr) c.898T>A (p.Ser300Thr) c.-111T>A (n.-111T>A) | |
| 1 | g.7809911T>C | CA338139713 | PER3 | c.1261T>C (p.Ser421Pro) c.1258T>C (p.Ser420Pro) n.279T>C c.304T>C (p.Ser102Pro) c.736T>C (p.Ser246Pro) c.1093T>C (p.Ser365Pro) c.913T>C (p.Ser305Pro) c.898T>C (p.Ser300Pro) c.-111T>C (n.-111T>C) | |
| 1 | g.7809911T>G | CA338139715 | PER3 | c.1261T>G (p.Ser421Ala) c.1258T>G (p.Ser420Ala) n.279T>G c.304T>G (p.Ser102Ala) c.736T>G (p.Ser246Ala) c.1093T>G (p.Ser365Ala) c.913T>G (p.Ser305Ala) c.898T>G (p.Ser300Ala) c.-111T>G (n.-111T>G) | |
| 1 | g.7809912C>A | CA338139718 | PER3 | c.1262C>A (p.Ser421Tyr) c.1259C>A (p.Ser420Tyr) n.280C>A c.305C>A (p.Ser102Tyr) c.737C>A (p.Ser246Tyr) c.1094C>A (p.Ser365Tyr) c.914C>A (p.Ser305Tyr) c.899C>A (p.Ser300Tyr) c.-110C>A (n.-110C>A) | gnomAD v4 |
| 1 | g.7809912C= | CA1141822729 | PER3 | c.1262C= (p.Ser421=) c.1259C= (p.Ser420=) n.280C= c.305C= (p.Ser102=) c.737C= (p.Ser246=) c.1094C= (p.Ser365=) c.914C= (p.Ser305=) c.899C= (p.Ser300=) c.-110C= (n.-110C=) | |
| 1 | g.7809912C>G | CA338139719 | PER3 | c.1262C>G (p.Ser421Cys) c.1259C>G (p.Ser420Cys) n.280C>G c.305C>G (p.Ser102Cys) c.737C>G (p.Ser246Cys) c.1094C>G (p.Ser365Cys) c.914C>G (p.Ser305Cys) c.899C>G (p.Ser300Cys) c.-110C>G (n.-110C>G) | |
| 1 | g.7809912C>T | CA17257711 | PER3 | c.1262C>T (p.Ser421Phe) c.1259C>T (p.Ser420Phe) n.280C>T c.305C>T (p.Ser102Phe) c.737C>T (p.Ser246Phe) c.1094C>T (p.Ser365Phe) c.914C>T (p.Ser305Phe) c.899C>T (p.Ser300Phe) c.-110C>T (n.-110C>T) | dbSNP |
| 1 | g.7809913C>A | CA415835992 | PER3 | c.1263C>A (p.Ser421=) c.1260C>A (p.Ser420=) n.281C>A c.306C>A (p.Ser102=) c.738C>A (p.Ser246=) c.1095C>A (p.Ser365=) c.915C>A (p.Ser305=) c.900C>A (p.Ser300=) c.-109C>A (n.-109C>A) | |
| 1 | g.7809913C>G | CA415835993 | PER3 | c.1263C>G (p.Ser421=) c.1260C>G (p.Ser420=) n.281C>G c.306C>G (p.Ser102=) c.738C>G (p.Ser246=) c.1095C>G (p.Ser365=) c.915C>G (p.Ser305=) c.900C>G (p.Ser300=) c.-109C>G (n.-109C>G) |