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 |
|---|---|---|---|---|---|
| 12 | g.120999522C>A | CA386972872 | HNF1A | c.*410C>A (n.*410C>A) c.1663C>A (p.Leu555Ile) c.*1103C>A (n.*1103C>A) c.1756C>A (p.Leu586Ile) c.1126C>A (p.Leu376Ile) c.1684C>A (p.Leu562Ile) c.1480C>A c.451C>A (p.Leu151Ile) c.*72C>A (n.*72C>A) | |
| 12 | g.120999522C= | CA2067691665 | HNF1A | c.*410C= (n.*410C=) c.1663C= (p.Leu555=) c.*1103C= (n.*1103C=) c.1756C= (p.Leu586=) c.1126C= (p.Leu376=) c.1684C= (p.Leu562=) c.1480C= c.451C= (p.Leu151=) c.*72C= (n.*72C=) | |
| 12 | g.120999522C>G | CA386972875 | HNF1A | c.*410C>G (n.*410C>G) c.1663C>G (p.Leu555Val) c.*1103C>G (n.*1103C>G) c.1756C>G (p.Leu586Val) c.1126C>G (p.Leu376Val) c.1684C>G (p.Leu562Val) c.1480C>G c.451C>G (p.Leu151Val) c.*72C>G (n.*72C>G) | |
| 12 | g.120999522C>T | CA214281 | HNF1A | c.*410C>T (n.*410C>T) c.1663C>T (p.Leu555Phe) c.*1103C>T (n.*1103C>T) c.1756C>T (p.Leu586Phe) c.1126C>T (p.Leu376Phe) c.1684C>T (p.Leu562Phe) c.1480C>T c.451C>T (p.Leu151Phe) c.*72C>T (n.*72C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120999523T>A | CA386972879 | HNF1A | c.*411T>A (n.*411T>A) c.1664T>A (p.Leu555His) c.*1104T>A (n.*1104T>A) c.1757T>A (p.Leu586His) c.1127T>A (p.Leu376His) c.1685T>A (p.Leu562His) c.1481T>A c.452T>A (p.Leu151His) c.*73T>A (n.*73T>A) | |
| 12 | g.120999523T>C | CA386972882 | HNF1A | c.*411T>C (n.*411T>C) c.1664T>C (p.Leu555Pro) c.*1104T>C (n.*1104T>C) c.1757T>C (p.Leu586Pro) c.1127T>C (p.Leu376Pro) c.1685T>C (p.Leu562Pro) c.1481T>C c.452T>C (p.Leu151Pro) c.*73T>C (n.*73T>C) | |
| 12 | g.120999523T>G | CA386972883 | HNF1A | c.*411T>G (n.*411T>G) c.1664T>G (p.Leu555Arg) c.*1104T>G (n.*1104T>G) c.1757T>G (p.Leu586Arg) c.1127T>G (p.Leu376Arg) c.1685T>G (p.Leu562Arg) c.1481T>G c.452T>G (p.Leu151Arg) c.*73T>G (n.*73T>G) | |
| 12 | g.120999524T>A | CA482431167 | HNF1A | c.*412T>A (n.*412T>A) c.1665T>A (p.Leu555=) c.*1105T>A (n.*1105T>A) c.1758T>A (p.Leu586=) c.1128T>A (p.Leu376=) c.1686T>A (p.Leu562=) c.1482T>A c.453T>A (p.Leu151=) c.*74T>A (n.*74T>A) | |
| 12 | g.120999524T>C | CA482431166 | HNF1A | c.*412T>C (n.*412T>C) c.1665T>C (p.Leu555=) c.*1105T>C (n.*1105T>C) c.1758T>C (p.Leu586=) c.1128T>C (p.Leu376=) c.1686T>C (p.Leu562=) c.1482T>C c.453T>C (p.Leu151=) c.*74T>C (n.*74T>C) | |
| 12 | g.120999524T>G | CA482431165 | HNF1A | c.*412T>G (n.*412T>G) c.1665T>G (p.Leu555=) c.*1105T>G (n.*1105T>G) c.1758T>G (p.Leu586=) c.1128T>G (p.Leu376=) c.1686T>G (p.Leu562=) c.1482T>G c.453T>G (p.Leu151=) c.*74T>G (n.*74T>G) | |
| 12 | g.120999525C>A | CA386972886 | HNF1A | c.*413C>A (n.*413C>A) c.1666C>A (p.His556Asn) c.*1106C>A (n.*1106C>A) c.1759C>A (p.His587Asn) c.1129C>A (p.His377Asn) c.1687C>A (p.His563Asn) c.1483C>A c.454C>A (p.His152Asn) c.*75C>A (n.*75C>A) | |
| 12 | g.120999525C>G | CA386972888 | HNF1A | c.*413C>G (n.*413C>G) c.1666C>G (p.His556Asp) c.*1106C>G (n.*1106C>G) c.1759C>G (p.His587Asp) c.1129C>G (p.His377Asp) c.1687C>G (p.His563Asp) c.1483C>G c.454C>G (p.His152Asp) c.*75C>G (n.*75C>G) | dbSNP |
| 12 | g.120999525C>T | CA386972890 | HNF1A | c.*413C>T (n.*413C>T) c.1666C>T (p.His556Tyr) c.*1106C>T (n.*1106C>T) c.1759C>T (p.His587Tyr) c.1129C>T (p.His377Tyr) c.1687C>T (p.His563Tyr) c.1483C>T c.454C>T (p.His152Tyr) c.*75C>T (n.*75C>T) | dbSNP |
| 12 | g.120999526A= | CA2067691672 | HNF1A | c.*414A= (n.*414A=) c.1667A= (p.His556=) c.*1107A= (n.*1107A=) c.1760A= (p.His587=) c.1130A= (p.His377=) c.1688A= (p.His563=) c.1484A= c.455A= (p.His152=) c.*76A= (n.*76A=) | |
| 12 | g.120999526A>C | CA386972893 | HNF1A | c.*414A>C (n.*414A>C) c.1667A>C (p.His556Pro) c.*1107A>C (n.*1107A>C) c.1760A>C (p.His587Pro) c.1130A>C (p.His377Pro) c.1688A>C (p.His563Pro) c.1484A>C c.455A>C (p.His152Pro) c.*76A>C (n.*76A>C) | |
| 12 | g.120999526A>G | CA386972895 | HNF1A | c.*414A>G (n.*414A>G) c.1667A>G (p.His556Arg) c.*1107A>G (n.*1107A>G) c.1760A>G (p.His587Arg) c.1130A>G (p.His377Arg) c.1688A>G (p.His563Arg) c.1484A>G c.455A>G (p.His152Arg) c.*76A>G (n.*76A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120999526A>T | CA386972897 | HNF1A | c.*414A>T (n.*414A>T) c.1667A>T (p.His556Leu) c.*1107A>T (n.*1107A>T) c.1760A>T (p.His587Leu) c.1130A>T (p.His377Leu) c.1688A>T (p.His563Leu) c.1484A>T c.455A>T (p.His152Leu) c.*76A>T (n.*76A>T) | dbSNP |
| 12 | g.120999527C>A | CA386972900 | HNF1A | c.*415C>A (n.*415C>A) c.1668C>A (p.His556Gln) c.*1108C>A (n.*1108C>A) c.1761C>A (p.His587Gln) c.1131C>A (p.His377Gln) c.1689C>A (p.His563Gln) c.1485C>A c.456C>A (p.His152Gln) c.*77C>A (n.*77C>A) | |
| 12 | g.120999527C= | CA2067691943 | HNF1A | c.*415C= (n.*415C=) c.1668C= (p.His556=) c.*1108C= (n.*1108C=) c.1761C= (p.His587=) c.1131C= (p.His377=) c.1689C= (p.His563=) c.1485C= c.456C= (p.His152=) c.*77C= (n.*77C=) | |
| 12 | g.120999527C>G | CA386972902 | HNF1A | c.*415C>G (n.*415C>G) c.1668C>G (p.His556Gln) c.*1108C>G (n.*1108C>G) c.1761C>G (p.His587Gln) c.1131C>G (p.His377Gln) c.1689C>G (p.His563Gln) c.1485C>G c.456C>G (p.His152Gln) c.*77C>G (n.*77C>G) | dbSNP |
| 12 | g.120999527C>T | CA482431171 | HNF1A | c.*415C>T (n.*415C>T) c.1668C>T (p.His556=) c.*1108C>T (n.*1108C>T) c.1761C>T (p.His587=) c.1131C>T (p.His377=) c.1689C>T (p.His563=) c.1485C>T c.456C>T (p.His152=) c.*77C>T (n.*77C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120999528A>C | CA386972904 | HNF1A | c.*416A>C (n.*416A>C) c.1669A>C (p.Thr557Pro) c.*1109A>C (n.*1109A>C) c.1762A>C (p.Thr588Pro) c.1132A>C (p.Thr378Pro) c.1690A>C (p.Thr564Pro) c.1486A>C c.457A>C (p.Thr153Pro) c.*78A>C (n.*78A>C) | dbSNP |
| 12 | g.120999528A>G | CA386972906 | HNF1A | c.*416A>G (n.*416A>G) c.1669A>G (p.Thr557Ala) c.*1109A>G (n.*1109A>G) c.1762A>G (p.Thr588Ala) c.1132A>G (p.Thr378Ala) c.1690A>G (p.Thr564Ala) c.1486A>G c.457A>G (p.Thr153Ala) c.*78A>G (n.*78A>G) | |
| 12 | g.120999528A>T | CA386972908 | HNF1A | c.*416A>T (n.*416A>T) c.1669A>T (p.Thr557Ser) c.*1109A>T (n.*1109A>T) c.1762A>T (p.Thr588Ser) c.1132A>T (p.Thr378Ser) c.1690A>T (p.Thr564Ser) c.1486A>T c.457A>T (p.Thr153Ser) c.*78A>T (n.*78A>T) | |
| 12 | g.120999529C>A | CA386972910 | HNF1A | c.*417C>A (n.*417C>A) c.1670C>A (p.Thr557Lys) c.*1110C>A (n.*1110C>A) c.1763C>A (p.Thr588Lys) c.1133C>A (p.Thr378Lys) c.1691C>A (p.Thr564Lys) c.1487C>A c.458C>A (p.Thr153Lys) c.*79C>A (n.*79C>A) | |
| 12 | g.120999529C= | CA2067691954 | HNF1A | c.*417C= (n.*417C=) c.1670C= (p.Thr557=) c.*1110C= (n.*1110C=) c.1763C= (p.Thr588=) c.1133C= (p.Thr378=) c.1691C= (p.Thr564=) c.1487C= c.458C= (p.Thr153=) c.*79C= (n.*79C=) | |
| 12 | g.120999529C>G | CA386972912 | HNF1A | c.*417C>G (n.*417C>G) c.1670C>G (p.Thr557Arg) c.*1110C>G (n.*1110C>G) c.1763C>G (p.Thr588Arg) c.1133C>G (p.Thr378Arg) c.1691C>G (p.Thr564Arg) c.1487C>G c.458C>G (p.Thr153Arg) c.*79C>G (n.*79C>G) | |
| 12 | g.120999529C>T | CA386972914 | HNF1A | c.*417C>T (n.*417C>T) c.1670C>T (p.Thr557Met) c.*1110C>T (n.*1110C>T) c.1763C>T (p.Thr588Met) c.1133C>T (p.Thr378Met) c.1691C>T (p.Thr564Met) c.1487C>T c.458C>T (p.Thr153Met) c.*79C>T (n.*79C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120999530_120999545dup | CA2695217588 | HNF1A | c.*418_*433dup (n.*418_*433dup) c.1671_1686dup (p.Thr563AlafsTer?) c.*1111_*1126dup (n.*1111_*1126dup) c.1764_1779dup (p.Thr594AlafsTer?) c.1134_1149dup (p.Thr384AlafsTer?) c.1692_1707dup (p.Thr570AlafsTer?) c.1488_1503dup c.459_474dup (p.Thr159AlafsTer?) c.*80_*95dup (n.*80_*95dup) | |
| 12 | g.120999530G>A | CA6832139 | HNF1A | c.*418G>A (n.*418G>A) c.1671G>A (p.Thr557=) c.*1111G>A (n.*1111G>A) c.1764G>A (p.Thr588=) c.1134G>A (p.Thr378=) c.1692G>A (p.Thr564=) c.1488G>A c.459G>A (p.Thr153=) c.*80G>A (n.*80G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999530G>C | CA482431176 | HNF1A | c.*418G>C (n.*418G>C) c.1671G>C (p.Thr557=) c.*1111G>C (n.*1111G>C) c.1764G>C (p.Thr588=) c.1134G>C (p.Thr378=) c.1692G>C (p.Thr564=) c.1488G>C c.459G>C (p.Thr153=) c.*80G>C (n.*80G>C) | dbSNP |
| 12 | g.120999530G= | CA2067691956 | HNF1A | c.*418G= (n.*418G=) c.1671G= (p.Thr557=) c.*1111G= (n.*1111G=) c.1764G= (p.Thr588=) c.1134G= (p.Thr378=) c.1692G= (p.Thr564=) c.1488G= c.459G= (p.Thr153=) c.*80G= (n.*80G=) | |
| 12 | g.120999530G>T | CA482431177 | HNF1A | c.*418G>T (n.*418G>T) c.1671G>T (p.Thr557=) c.*1111G>T (n.*1111G>T) c.1764G>T (p.Thr588=) c.1134G>T (p.Thr378=) c.1692G>T (p.Thr564=) c.1488G>T c.459G>T (p.Thr153=) c.*80G>T (n.*80G>T) | |
| 12 | g.120999531C>A | CA386972919 | HNF1A | c.*419C>A (n.*419C>A) c.1672C>A (p.Pro558Thr) c.*1112C>A (n.*1112C>A) c.1765C>A (p.Pro589Thr) c.1135C>A (p.Pro379Thr) c.1693C>A (p.Pro565Thr) c.1489C>A c.460C>A (p.Pro154Thr) c.*81C>A (n.*81C>A) | gnomAD v4 |
| 12 | g.120999531C= | CA2067691965 | HNF1A | c.*419C= (n.*419C=) c.1672C= (p.Pro558=) c.*1112C= (n.*1112C=) c.1765C= (p.Pro589=) c.1135C= (p.Pro379=) c.1693C= (p.Pro565=) c.1489C= c.460C= (p.Pro154=) c.*81C= (n.*81C=) | |
| 12 | g.120999531C>G | CA386972921 | HNF1A | c.*419C>G (n.*419C>G) c.1672C>G (p.Pro558Ala) c.*1112C>G (n.*1112C>G) c.1765C>G (p.Pro589Ala) c.1135C>G (p.Pro379Ala) c.1693C>G (p.Pro565Ala) c.1489C>G c.460C>G (p.Pro154Ala) c.*81C>G (n.*81C>G) | |
| 12 | g.120999531C>T | CA386972923 | HNF1A | c.*419C>T (n.*419C>T) c.1672C>T (p.Pro558Ser) c.*1112C>T (n.*1112C>T) c.1765C>T (p.Pro589Ser) c.1135C>T (p.Pro379Ser) c.1693C>T (p.Pro565Ser) c.1489C>T c.460C>T (p.Pro154Ser) c.*81C>T (n.*81C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120999532dup | CA2695217589 | HNF1A | c.*420dup (n.*420dup) c.1673dup (p.Ala559GlyfsTer?) c.*1113dup (n.*1113dup) c.1766dup (p.Ala590GlyfsTer?) c.1136dup (p.Ala380GlyfsTer?) c.1694dup (p.Ala566GlyfsTer?) c.1490dup c.461dup (p.Ala155GlyfsTer?) c.*82dup (n.*82dup) | |
| 12 | g.120999532C>A | CA386972927 | HNF1A | c.*420C>A (n.*420C>A) c.1673C>A (p.Pro558Gln) c.*1113C>A (n.*1113C>A) c.1766C>A (p.Pro589Gln) c.1136C>A (p.Pro379Gln) c.1694C>A (p.Pro565Gln) c.1490C>A c.461C>A (p.Pro154Gln) c.*82C>A (n.*82C>A) | |
| 12 | g.120999532C= | CA2067691971 | HNF1A | c.*420C= (n.*420C=) c.1673C= (p.Pro558=) c.*1113C= (n.*1113C=) c.1766C= (p.Pro589=) c.1136C= (p.Pro379=) c.1694C= (p.Pro565=) c.1490C= c.461C= (p.Pro154=) c.*82C= (n.*82C=) | |
| 12 | g.120999532C>G | CA386972928 | HNF1A | c.*420C>G (n.*420C>G) c.1673C>G (p.Pro558Arg) c.*1113C>G (n.*1113C>G) c.1766C>G (p.Pro589Arg) c.1136C>G (p.Pro379Arg) c.1694C>G (p.Pro565Arg) c.1490C>G c.461C>G (p.Pro154Arg) c.*82C>G (n.*82C>G) | gnomAD v4 |
| 12 | g.120999532C>T | CA6832140 | HNF1A | c.*420C>T (n.*420C>T) c.1673C>T (p.Pro558Leu) c.*1113C>T (n.*1113C>T) c.1766C>T (p.Pro589Leu) c.1136C>T (p.Pro379Leu) c.1694C>T (p.Pro565Leu) c.1490C>T c.461C>T (p.Pro154Leu) c.*82C>T (n.*82C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999533G>A | CA6832141 | HNF1A | c.*421G>A (n.*421G>A) c.1674G>A (p.Pro558=) c.*1114G>A (n.*1114G>A) c.1767G>A (p.Pro589=) c.1137G>A (p.Pro379=) c.1695G>A (p.Pro565=) c.1491G>A c.462G>A (p.Pro154=) c.*83G>A (n.*83G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999533G>C | CA482431179 | HNF1A | c.*421G>C (n.*421G>C) c.1674G>C (p.Pro558=) c.*1114G>C (n.*1114G>C) c.1767G>C (p.Pro589=) c.1137G>C (p.Pro379=) c.1695G>C (p.Pro565=) c.1491G>C c.462G>C (p.Pro154=) c.*83G>C (n.*83G>C) | dbSNP |
| 12 | g.120999533G= | CA2067691980 | HNF1A | c.*421G= (n.*421G=) c.1674G= (p.Pro558=) c.*1114G= (n.*1114G=) c.1767G= (p.Pro589=) c.1137G= (p.Pro379=) c.1695G= (p.Pro565=) c.1491G= c.462G= (p.Pro154=) c.*83G= (n.*83G=) | |
| 12 | g.120999533G>T | CA6832142 | HNF1A | c.*421G>T (n.*421G>T) c.1674G>T (p.Pro558=) c.*1114G>T (n.*1114G>T) c.1767G>T (p.Pro589=) c.1137G>T (p.Pro379=) c.1695G>T (p.Pro565=) c.1491G>T c.462G>T (p.Pro154=) c.*83G>T (n.*83G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120999534G>A | CA386972937 | HNF1A | c.*422G>A (n.*422G>A) c.1675G>A (p.Ala559Thr) c.*1115G>A (n.*1115G>A) c.1768G>A (p.Ala590Thr) c.1138G>A (p.Ala380Thr) c.1696G>A (p.Ala566Thr) c.1492G>A c.463G>A (p.Ala155Thr) c.*84G>A (n.*84G>A) | dbSNP gnomAD v4 |
| 12 | g.120999534G>C | CA386972939 | HNF1A | c.*422G>C (n.*422G>C) c.1675G>C (p.Ala559Pro) c.*1115G>C (n.*1115G>C) c.1768G>C (p.Ala590Pro) c.1138G>C (p.Ala380Pro) c.1696G>C (p.Ala566Pro) c.1492G>C c.463G>C (p.Ala155Pro) c.*84G>C (n.*84G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120999534G= | CA2067691986 | HNF1A | c.*422G= (n.*422G=) c.1675G= (p.Ala559=) c.*1115G= (n.*1115G=) c.1768G= (p.Ala590=) c.1138G= (p.Ala380=) c.1696G= (p.Ala566=) c.1492G= c.463G= (p.Ala155=) c.*84G= (n.*84G=) | |
| 12 | g.120999534G>T | CA386972941 | HNF1A | c.*422G>T (n.*422G>T) c.1675G>T (p.Ala559Ser) c.*1115G>T (n.*1115G>T) c.1768G>T (p.Ala590Ser) c.1138G>T (p.Ala380Ser) c.1696G>T (p.Ala566Ser) c.1492G>T c.463G>T (p.Ala155Ser) c.*84G>T (n.*84G>T) |