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 |
|---|---|---|---|---|---|
| 11 | g.2583546_2587569del | CA1139661776 | KCNQ1 | c.771+1_772-1del c.588+1_589-1del c.1032+1_1129-1del c.651+1_748-1del c.234+1_235-1del | ClinVar |
| 11 | g.2585211_2585296dup | CA2580082610 | KCNQ1 | c.771+1666_771+1751dup (n.771+1666_771+1751dup) c.588+1666_588+1751dup (n.588+1666_588+1751dup) c.1033-1_1117dup c.652-1_736dup c.234+1666_234+1751dup (n.234+1666_234+1751dup) | ClinVar |
| 11 | g.2585237T>A | CA379133698 | KCNQ1 | c.771+1692T>A (n.771+1692T>A) c.588+1692T>A (n.588+1692T>A) c.1058T>A (p.Leu353Gln) c.677T>A (p.Leu226Gln) c.234+1692T>A (n.234+1692T>A) | |
| 11 | g.2585237T>C | CA005117 | KCNQ1 | c.771+1692T>C (n.771+1692T>C) c.588+1692T>C (n.588+1692T>C) c.1058T>C (p.Leu353Pro) c.677T>C (p.Leu226Pro) c.234+1692T>C (n.234+1692T>C) | ClinVar dbSNP |
| 11 | g.2585237T>G | CA379133701 | KCNQ1 | c.771+1692T>G (n.771+1692T>G) c.588+1692T>G (n.588+1692T>G) c.1058T>G (p.Leu353Arg) c.677T>G (p.Leu226Arg) c.234+1692T>G (n.234+1692T>G) | |
| 11 | g.2585237T= | CA1948228887 | KCNQ1 | c.771+1692T= (n.771+1692T=) c.588+1692T= (n.588+1692T=) c.1058T= (p.Leu353=) c.677T= (p.Leu226=) c.234+1692T= (n.234+1692T=) | |
| 11 | g.2585237_2585238del | CA2723230999 | KCNQ1 | c.771+1692_771+1693del (n.771+1692_771+1693del) c.588+1692_588+1693del (n.588+1692_588+1693del) c.1058_1059del (p.Leu353GlnfsTer?) c.677_678del (p.Leu226GlnfsTer?) c.234+1692_234+1693del (n.234+1692_234+1693del) | dbSNP |
| 11 | g.2585238G>A | CA16609322 | KCNQ1 | c.771+1693G>A (n.771+1693G>A) c.588+1693G>A (n.588+1693G>A) c.1059G>A (p.Leu353=) c.678G>A (p.Leu226=) c.234+1693G>A (n.234+1693G>A) | ClinVar dbSNP |
| 11 | g.2585238G>C | CA472038489 | KCNQ1 | c.771+1693G>C (n.771+1693G>C) c.588+1693G>C (n.588+1693G>C) c.1059G>C (p.Leu353=) c.678G>C (p.Leu226=) c.234+1693G>C (n.234+1693G>C) | |
| 11 | g.2585238G>T | CA472038490 | KCNQ1 | c.771+1693G>T (n.771+1693G>T) c.588+1693G>T (n.588+1693G>T) c.1059G>T (p.Leu353=) c.678G>T (p.Leu226=) c.234+1693G>T (n.234+1693G>T) | |
| 11 | g.2585239A>C | CA379133703 | KCNQ1 | c.771+1694A>C (n.771+1694A>C) c.588+1694A>C (n.588+1694A>C) c.1060A>C (p.Lys354Gln) c.679A>C (p.Lys227Gln) c.234+1694A>C (n.234+1694A>C) | |
| 11 | g.2585239A>G | CA379133705 | KCNQ1 | c.771+1694A>G (n.771+1694A>G) c.588+1694A>G (n.588+1694A>G) c.1060A>G (p.Lys354Glu) c.679A>G (p.Lys227Glu) c.234+1694A>G (n.234+1694A>G) | |
| 11 | g.2585239A>T | CA379133707 | KCNQ1 | c.771+1694A>T (n.771+1694A>T) c.588+1694A>T (n.588+1694A>T) c.1060A>T (p.Lys354Ter) c.679A>T (p.Lys227Ter) c.234+1694A>T (n.234+1694A>T) | |
| 11 | g.2585240A= | CA1948228891 | KCNQ1 | c.771+1695A= (n.771+1695A=) c.588+1695A= (n.588+1695A=) c.1061A= (p.Lys354=) c.680A= (p.Lys227=) c.234+1695A= (n.234+1695A=) | |
| 11 | g.2585240A>C | CA379133709 | KCNQ1 | c.771+1695A>C (n.771+1695A>C) c.588+1695A>C (n.588+1695A>C) c.1061A>C (p.Lys354Thr) c.680A>C (p.Lys227Thr) c.234+1695A>C (n.234+1695A>C) | |
| 11 | g.2585240A>G | CA005125 | KCNQ1 | c.771+1695A>G (n.771+1695A>G) c.588+1695A>G (n.588+1695A>G) c.1061A>G (p.Lys354Arg) c.680A>G (p.Lys227Arg) c.234+1695A>G (n.234+1695A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2585240A>T | CA379133711 | KCNQ1 | c.771+1695A>T (n.771+1695A>T) c.588+1695A>T (n.588+1695A>T) c.1061A>T (p.Lys354Met) c.680A>T (p.Lys227Met) c.234+1695A>T (n.234+1695A>T) | |
| 11 | g.2585241G>A | CA027005 | KCNQ1 | c.771+1696G>A (n.771+1696G>A) c.588+1696G>A (n.588+1696G>A) c.1062G>A (p.Lys354=) c.681G>A (p.Lys227=) c.234+1696G>A (n.234+1696G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2585241G>C | CA379133715 | KCNQ1 | c.771+1696G>C (n.771+1696G>C) c.588+1696G>C (n.588+1696G>C) c.1062G>C (p.Lys354Asn) c.681G>C (p.Lys227Asn) c.234+1696G>C (n.234+1696G>C) | |
| 11 | g.2585241G= | CA1948228898 | KCNQ1 | c.771+1696G= (n.771+1696G=) c.588+1696G= (n.588+1696G=) c.1062G= (p.Lys354=) c.681G= (p.Lys227=) c.234+1696G= (n.234+1696G=) | |
| 11 | g.2585241G>T | CA379133717 | KCNQ1 | c.771+1696G>T (n.771+1696G>T) c.588+1696G>T (n.588+1696G>T) c.1062G>T (p.Lys354Asn) c.681G>T (p.Lys227Asn) c.234+1696G>T (n.234+1696G>T) | COSMIC |
| 11 | g.2585242G>A | CA379133724 | KCNQ1 | c.771+1697G>A (n.771+1697G>A) c.588+1697G>A (n.588+1697G>A) c.1063G>A (p.Val355Met) c.682G>A (p.Val228Met) c.234+1697G>A (n.234+1697G>A) | |
| 11 | g.2585242G>C | CA379133722 | KCNQ1 | c.771+1697G>C (n.771+1697G>C) c.588+1697G>C (n.588+1697G>C) c.1063G>C (p.Val355Leu) c.682G>C (p.Val228Leu) c.234+1697G>C (n.234+1697G>C) | |
| 11 | g.2585242G>T | CA379133720 | KCNQ1 | c.771+1697G>T (n.771+1697G>T) c.588+1697G>T (n.588+1697G>T) c.1063G>T (p.Val355Leu) c.682G>T (p.Val228Leu) c.234+1697G>T (n.234+1697G>T) | |
| 11 | g.2585243T>A | CA379133726 | KCNQ1 | c.771+1698T>A (n.771+1698T>A) c.588+1698T>A (n.588+1698T>A) c.1064T>A (p.Val355Glu) c.683T>A (p.Val228Glu) c.234+1698T>A (n.234+1698T>A) | |
| 11 | g.2585243T>C | CA379133730 | KCNQ1 | c.771+1698T>C (n.771+1698T>C) c.588+1698T>C (n.588+1698T>C) c.1064T>C (p.Val355Ala) c.683T>C (p.Val228Ala) c.234+1698T>C (n.234+1698T>C) | |
| 11 | g.2585243T>G | CA379133728 | KCNQ1 | c.771+1698T>G (n.771+1698T>G) c.588+1698T>G (n.588+1698T>G) c.1064T>G (p.Val355Gly) c.683T>G (p.Val228Gly) c.234+1698T>G (n.234+1698T>G) | dbSNP |
| 11 | g.2585243T= | CA1948228904 | KCNQ1 | c.771+1698T= (n.771+1698T=) c.588+1698T= (n.588+1698T=) c.1064T= (p.Val355=) c.683T= (p.Val228=) c.234+1698T= (n.234+1698T=) | |
| 11 | g.2585243_2585249delinsTGCAGCA | CA1948228903 | KCNQ1 | c.771+1698_771+1704delinsTGCAGCA (n.771+1698_771+1704delinsTGCAGCA) c.588+1698_588+1704delinsTGCAGCA (n.588+1698_588+1704delinsTGCAGCA) c.1064_1070delinsTGCAGCA (p.Val355=) c.683_689delinsTGCAGCA (p.Val228=) c.234+1698_234+1704delinsTGCAGCA (n.234+1698_234+1704delinsTGCAGCA) | |
| 11 | g.2585244G>A | CA472038491 | KCNQ1 | c.771+1699G>A (n.771+1699G>A) c.588+1699G>A (n.588+1699G>A) c.1065G>A (p.Val355=) c.684G>A (p.Val228=) c.234+1699G>A (n.234+1699G>A) | gnomAD v4 |
| 11 | g.2585244G>C | CA472038492 | KCNQ1 | c.771+1699G>C (n.771+1699G>C) c.588+1699G>C (n.588+1699G>C) c.1065G>C (p.Val355=) c.684G>C (p.Val228=) c.234+1699G>C (n.234+1699G>C) | |
| 11 | g.2585244G>T | CA472038493 | KCNQ1 | c.771+1699G>T (n.771+1699G>T) c.588+1699G>T (n.588+1699G>T) c.1065G>T (p.Val355=) c.684G>T (p.Val228=) c.234+1699G>T (n.234+1699G>T) | |
| 11 | g.2585245_2585250del | CA005128 | KCNQ1 | c.771+1700_771+1705del (n.771+1700_771+1705del) c.588+1700_588+1705del (n.588+1700_588+1705del) c.1066_1071del (p.Gln356_Gln357del) c.685_690del (p.Gln229_Gln230del) c.234+1700_234+1705del (n.234+1700_234+1705del) | ClinVar dbSNP |
| 11 | g.2585245C>A | CA379133733 | KCNQ1 | c.771+1700C>A (n.771+1700C>A) c.588+1700C>A (n.588+1700C>A) c.1066C>A (p.Gln356Lys) c.685C>A (p.Gln229Lys) c.234+1700C>A (n.234+1700C>A) | |
| 11 | g.2585245C= | CA1948228916 | KCNQ1 | c.771+1700C= (n.771+1700C=) c.588+1700C= (n.588+1700C=) c.1066C= (p.Gln356=) c.685C= (p.Gln229=) c.234+1700C= (n.234+1700C=) | |
| 11 | g.2585245C>G | CA379133735 | KCNQ1 | c.771+1700C>G (n.771+1700C>G) c.588+1700C>G (n.588+1700C>G) c.1066C>G (p.Gln356Glu) c.685C>G (p.Gln229Glu) c.234+1700C>G (n.234+1700C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2585245C>T | CA005143 | KCNQ1 | c.771+1700C>T (n.771+1700C>T) c.588+1700C>T (n.588+1700C>T) c.1066C>T (p.Gln356Ter) c.685C>T (p.Gln229Ter) c.234+1700C>T (n.234+1700C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2585245_2585251delinsCAGCAGA | CA1948228912 | KCNQ1 | c.771+1700_771+1706delinsCAGCAGA (n.771+1700_771+1706delinsCAGCAGA) c.588+1700_588+1706delinsCAGCAGA (n.588+1700_588+1706delinsCAGCAGA) c.1066_1072delinsCAGCAGA (p.Gln356=) c.685_691delinsCAGCAGA (p.Gln229=) c.234+1700_234+1706delinsCAGCAGA (n.234+1700_234+1706delinsCAGCAGA) | |
| 11 | g.2585246A>C | CA379133738 | KCNQ1 | c.771+1701A>C (n.771+1701A>C) c.588+1701A>C (n.588+1701A>C) c.1067A>C (p.Gln356Pro) c.686A>C (p.Gln229Pro) c.234+1701A>C (n.234+1701A>C) | |
| 11 | g.2585246A>G | CA379133740 | KCNQ1 | c.771+1701A>G (n.771+1701A>G) c.588+1701A>G (n.588+1701A>G) c.1067A>G (p.Gln356Arg) c.686A>G (p.Gln229Arg) c.234+1701A>G (n.234+1701A>G) | |
| 11 | g.2585246A>T | CA379133742 | KCNQ1 | c.771+1701A>T (n.771+1701A>T) c.588+1701A>T (n.588+1701A>T) c.1067A>T (p.Gln356Leu) c.686A>T (p.Gln229Leu) c.234+1701A>T (n.234+1701A>T) | |
| 11 | g.2585252_2585257dup | CA2695213192 | KCNQ1 | c.771+1707_771+1712dup (n.771+1707_771+1712dup) c.588+1707_588+1712dup (n.588+1707_588+1712dup) c.1073_1078dup (p.Gln359_Arg360insLysGln) c.692_697dup (p.Gln232_Arg233insLysGln) c.234+1707_234+1712dup (n.234+1707_234+1712dup) | |
| 11 | g.2585252_2585257del | CA005158 | KCNQ1 | c.771+1707_771+1712del (n.771+1707_771+1712del) c.588+1707_588+1712del (n.588+1707_588+1712del) c.1073_1078del (p.Lys358_Gln359del) c.692_697del (p.Lys231_Gln232del) c.234+1707_234+1712del (n.234+1707_234+1712del) | ClinVar dbSNP |
| 11 | g.2585247G>A | CA472038494 | KCNQ1 | c.771+1702G>A (n.771+1702G>A) c.588+1702G>A (n.588+1702G>A) c.1068G>A (p.Gln356=) c.687G>A (p.Gln229=) c.234+1702G>A (n.234+1702G>A) | gnomAD v4 |
| 11 | g.2585247G>C | CA379133744 | KCNQ1 | c.771+1702G>C (n.771+1702G>C) c.588+1702G>C (n.588+1702G>C) c.1068G>C (p.Gln356His) c.687G>C (p.Gln229His) c.234+1702G>C (n.234+1702G>C) | |
| 11 | g.2585247G>T | CA379133743 | KCNQ1 | c.771+1702G>T (n.771+1702G>T) c.588+1702G>T (n.588+1702G>T) c.1068G>T (p.Gln356His) c.687G>T (p.Gln229His) c.234+1702G>T (n.234+1702G>T) | |
| 11 | g.2585256_2585267dup | CA2695213193 | KCNQ1 | c.771+1711_771+1722dup (n.771+1711_771+1722dup) c.588+1711_588+1722dup (n.588+1711_588+1722dup) c.1077_1088dup (p.Lys362_His363insGlnArgGlnLys) c.696_707dup (p.Lys235_His236insGlnArgGlnLys) c.234+1711_234+1722dup (n.234+1711_234+1722dup) | |
| 11 | g.2585256_2585267del | CA2580615602 | KCNQ1 | c.771+1711_771+1722del (n.771+1711_771+1722del) c.588+1711_588+1722del (n.588+1711_588+1722del) c.1077_1088del (p.Gln359_Lys362del) c.696_707del (p.Gln232_Lys235del) c.234+1711_234+1722del (n.234+1711_234+1722del) | ClinVar |
| 11 | g.2585248C>A | CA379133745 | KCNQ1 | c.771+1703C>A (n.771+1703C>A) c.588+1703C>A (n.588+1703C>A) c.1069C>A (p.Gln357Lys) c.688C>A (p.Gln230Lys) c.234+1703C>A (n.234+1703C>A) | |
| 11 | g.2585248C= | CA1948228934 | KCNQ1 | c.771+1703C= (n.771+1703C=) c.588+1703C= (n.588+1703C=) c.1069C= (p.Gln357=) c.688C= (p.Gln230=) c.234+1703C= (n.234+1703C=) |