| 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.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.2585262_2585267dup | CA005240 | KCNQ1 | c.771+1717_771+1722dup (n.771+1717_771+1722dup) c.588+1717_588+1722dup (n.588+1717_588+1722dup) c.1083_1088dup (p.Lys362_His363insGlnLys) c.702_707dup (p.Lys235_His236insGlnLys) c.234+1717_234+1722dup (n.234+1717_234+1722dup) | ClinVar dbSNP |
| 11 | g.2585263_2585265del | CA2695213194 | KCNQ1 | c.771+1718_771+1720del (n.771+1718_771+1720del) c.588+1718_588+1720del (n.588+1718_588+1720del) c.1084_1086del (p.Lys362del) c.703_705del (p.Lys235del) c.234+1718_234+1720del (n.234+1718_234+1720del) | |
| 11 | g.2585264A= | CA1948229027 | KCNQ1 | c.771+1719A= (n.771+1719A=) c.588+1719A= (n.588+1719A=) c.1085A= (p.Lys362=) c.704A= (p.Lys235=) c.234+1719A= (n.234+1719A=) | |
| 11 | g.2585264A>C | CA379133805 | KCNQ1 | c.771+1719A>C (n.771+1719A>C) c.588+1719A>C (n.588+1719A>C) c.1085A>C (p.Lys362Thr) c.704A>C (p.Lys235Thr) c.234+1719A>C (n.234+1719A>C) | |
| 11 | g.2585264A>G | CA005223 | KCNQ1 | c.771+1719A>G (n.771+1719A>G) c.588+1719A>G (n.588+1719A>G) c.1085A>G (p.Lys362Arg) c.704A>G (p.Lys235Arg) c.234+1719A>G (n.234+1719A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2585264A>T | CA379133808 | KCNQ1 | c.771+1719A>T (n.771+1719A>T) c.588+1719A>T (n.588+1719A>T) c.1085A>T (p.Lys362Met) c.704A>T (p.Lys235Met) c.234+1719A>T (n.234+1719A>T) | |
| 11 | g.2585265G>A | CA472038500 | KCNQ1 | c.771+1720G>A (n.771+1720G>A) c.588+1720G>A (n.588+1720G>A) c.1086G>A (p.Lys362=) c.705G>A (p.Lys235=) c.234+1720G>A (n.234+1720G>A) | |
| 11 | g.2585265G>C | CA379133812 | KCNQ1 | c.771+1720G>C (n.771+1720G>C) c.588+1720G>C (n.588+1720G>C) c.1086G>C (p.Lys362Asn) c.705G>C (p.Lys235Asn) c.234+1720G>C (n.234+1720G>C) | |
| 11 | g.2585265G>T | CA379133810 | KCNQ1 | c.771+1720G>T (n.771+1720G>T) c.588+1720G>T (n.588+1720G>T) c.1086G>T (p.Lys362Asn) c.705G>T (p.Lys235Asn) c.234+1720G>T (n.234+1720G>T) | |
| 11 | g.2585266C>A | CA005231 | KCNQ1 | c.771+1721C>A (n.771+1721C>A) c.588+1721C>A (n.588+1721C>A) c.1087C>A (p.His363Asn) c.706C>A (p.His236Asn) c.234+1721C>A (n.234+1721C>A) | ClinVar dbSNP |
| 11 | g.2585266C= | CA1948229047 | KCNQ1 | c.771+1721C= (n.771+1721C=) c.588+1721C= (n.588+1721C=) c.1087C= (p.His363=) c.706C= (p.His236=) c.234+1721C= (n.234+1721C=) | |
| 11 | g.2585266C>G | CA379133817 | KCNQ1 | c.771+1721C>G (n.771+1721C>G) c.588+1721C>G (n.588+1721C>G) c.1087C>G (p.His363Asp) c.706C>G (p.His236Asp) c.234+1721C>G (n.234+1721C>G) | |
| 11 | g.2585266C>T | CA379133815 | KCNQ1 | c.771+1721C>T (n.771+1721C>T) c.588+1721C>T (n.588+1721C>T) c.1087C>T (p.His363Tyr) c.706C>T (p.His236Tyr) c.234+1721C>T (n.234+1721C>T) | |
| 11 | g.2585267A>C | CA379133819 | KCNQ1 | c.771+1722A>C (n.771+1722A>C) c.588+1722A>C (n.588+1722A>C) c.1088A>C (p.His363Pro) c.707A>C (p.His236Pro) c.234+1722A>C (n.234+1722A>C) | |
| 11 | g.2585267A>G | CA379133821 | KCNQ1 | c.771+1722A>G (n.771+1722A>G) c.588+1722A>G (n.588+1722A>G) c.1088A>G (p.His363Arg) c.707A>G (p.His236Arg) c.234+1722A>G (n.234+1722A>G) | gnomAD v4 |
| 11 | g.2585267A>T | CA379133823 | KCNQ1 | c.771+1722A>T (n.771+1722A>T) c.588+1722A>T (n.588+1722A>T) c.1088A>T (p.His363Leu) c.707A>T (p.His236Leu) c.234+1722A>T (n.234+1722A>T) | |
| 11 | g.2585268C>A | CA379133825 | KCNQ1 | c.771+1723C>A (n.771+1723C>A) c.588+1723C>A (n.588+1723C>A) c.1089C>A (p.His363Gln) c.708C>A (p.His236Gln) c.234+1723C>A (n.234+1723C>A) | |
| 11 | g.2585268C= | CA1948229052 | KCNQ1 | c.771+1723C= (n.771+1723C=) c.588+1723C= (n.588+1723C=) c.1089C= (p.His363=) c.708C= (p.His236=) c.234+1723C= (n.234+1723C=) | |
| 11 | g.2585268C>G | CA379133827 | KCNQ1 | c.771+1723C>G (n.771+1723C>G) c.588+1723C>G (n.588+1723C>G) c.1089C>G (p.His363Gln) c.708C>G (p.His236Gln) c.234+1723C>G (n.234+1723C>G) | |
| 11 | g.2585268C>T | CA472038501 | KCNQ1 | c.771+1723C>T (n.771+1723C>T) c.588+1723C>T (n.588+1723C>T) c.1089C>T (p.His363=) c.708C>T (p.His236=) c.234+1723C>T (n.234+1723C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2585269T>A | CA379133830 | KCNQ1 | c.771+1724T>A (n.771+1724T>A) c.588+1724T>A (n.588+1724T>A) c.1090T>A (p.Phe364Ile) c.709T>A (p.Phe237Ile) c.234+1724T>A (n.234+1724T>A) | gnomAD v4 |
| 11 | g.2585269T>C | CA027046 | KCNQ1 | c.771+1724T>C (n.771+1724T>C) c.588+1724T>C (n.588+1724T>C) c.1090T>C (p.Phe364Leu) c.709T>C (p.Phe237Leu) c.234+1724T>C (n.234+1724T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2585269T>G | CA379133833 | KCNQ1 | c.771+1724T>G (n.771+1724T>G) c.588+1724T>G (n.588+1724T>G) c.1090T>G (p.Phe364Val) c.709T>G (p.Phe237Val) c.234+1724T>G (n.234+1724T>G) | |
| 11 | g.2585269T= | CA1948229058 | KCNQ1 | c.771+1724T= (n.771+1724T=) c.588+1724T= (n.588+1724T=) c.1090T= (p.Phe364=) c.709T= (p.Phe237=) c.234+1724T= (n.234+1724T=) | |
| 11 | g.2585270T>A | CA379133836 | KCNQ1 | c.771+1725T>A (n.771+1725T>A) c.588+1725T>A (n.588+1725T>A) c.1091T>A (p.Phe364Tyr) c.710T>A (p.Phe237Tyr) c.234+1725T>A (n.234+1725T>A) | |
| 11 | g.2585270T>C | CA379133838 | KCNQ1 | c.771+1725T>C (n.771+1725T>C) c.588+1725T>C (n.588+1725T>C) c.1091T>C (p.Phe364Ser) c.710T>C (p.Phe237Ser) c.234+1725T>C (n.234+1725T>C) | |
| 11 | g.2585270T>G | CA379133839 | KCNQ1 | c.771+1725T>G (n.771+1725T>G) c.588+1725T>G (n.588+1725T>G) c.1091T>G (p.Phe364Cys) c.710T>G (p.Phe237Cys) c.234+1725T>G (n.234+1725T>G) | |
| 11 | g.2585271C>A | CA379133842 | KCNQ1 | c.771+1726C>A (n.771+1726C>A) c.588+1726C>A (n.588+1726C>A) c.1092C>A (p.Phe364Leu) c.711C>A (p.Phe237Leu) c.234+1726C>A (n.234+1726C>A) | |
| 11 | g.2585271C>G | CA379133844 | KCNQ1 | c.771+1726C>G (n.771+1726C>G) c.588+1726C>G (n.588+1726C>G) c.1092C>G (p.Phe364Leu) c.711C>G (p.Phe237Leu) c.234+1726C>G (n.234+1726C>G) | gnomAD v4 |
| 11 | g.2585271C>T | CA472038502 | KCNQ1 | c.771+1726C>T (n.771+1726C>T) c.588+1726C>T (n.588+1726C>T) c.1092C>T (p.Phe364=) c.711C>T (p.Phe237=) c.234+1726C>T (n.234+1726C>T) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2585272A= | CA1948229060 | KCNQ1 | c.771+1727A= (n.771+1727A=) c.588+1727A= (n.588+1727A=) c.1093A= (p.Asn365=) c.712A= (p.Asn238=) c.234+1727A= (n.234+1727A=) | |
| 11 | g.2585272A>C | CA005247 | KCNQ1 | c.771+1727A>C (n.771+1727A>C) c.588+1727A>C (n.588+1727A>C) c.1093A>C (p.Asn365His) c.712A>C (p.Asn238His) c.234+1727A>C (n.234+1727A>C) | ClinVar dbSNP |
| 11 | g.2585272A>G | CA379133848 | KCNQ1 | c.771+1727A>G (n.771+1727A>G) c.588+1727A>G (n.588+1727A>G) c.1093A>G (p.Asn365Asp) c.712A>G (p.Asn238Asp) c.234+1727A>G (n.234+1727A>G) | |
| 11 | g.2585272A>T | CA379133847 | KCNQ1 | c.771+1727A>T (n.771+1727A>T) c.588+1727A>T (n.588+1727A>T) c.1093A>T (p.Asn365Tyr) c.712A>T (p.Asn238Tyr) c.234+1727A>T (n.234+1727A>T) | |
| 11 | g.2585273A>C | CA379133849 | KCNQ1 | c.771+1728A>C (n.771+1728A>C) c.588+1728A>C (n.588+1728A>C) c.1094A>C (p.Asn365Thr) c.713A>C (p.Asn238Thr) c.234+1728A>C (n.234+1728A>C) | |
| 11 | g.2585273A>G | CA379133850 | KCNQ1 | c.771+1728A>G (n.771+1728A>G) c.588+1728A>G (n.588+1728A>G) c.1094A>G (p.Asn365Ser) c.713A>G (p.Asn238Ser) c.234+1728A>G (n.234+1728A>G) | |
| 11 | g.2585273A>T | CA379133851 | KCNQ1 | c.771+1728A>T (n.771+1728A>T) c.588+1728A>T (n.588+1728A>T) c.1094A>T (p.Asn365Ile) c.713A>T (p.Asn238Ile) c.234+1728A>T (n.234+1728A>T) | |
| 11 | g.2585274C>A | CA379133852 | KCNQ1 | c.771+1729C>A (n.771+1729C>A) c.588+1729C>A (n.588+1729C>A) c.1095C>A (p.Asn365Lys) c.714C>A (p.Asn238Lys) c.234+1729C>A (n.234+1729C>A) | |
| 11 | g.2585274C= | CA1948229066 | KCNQ1 | c.771+1729C= (n.771+1729C=) c.588+1729C= (n.588+1729C=) c.1095C= (p.Asn365=) c.714C= (p.Asn238=) c.234+1729C= (n.234+1729C=) | |
| 11 | g.2585274C>G | CA379133854 | KCNQ1 | c.771+1729C>G (n.771+1729C>G) c.588+1729C>G (n.588+1729C>G) c.1095C>G (p.Asn365Lys) c.714C>G (p.Asn238Lys) c.234+1729C>G (n.234+1729C>G) | |
| 11 | g.2585274C>T | CA472038503 | KCNQ1 | c.771+1729C>T (n.771+1729C>T) c.588+1729C>T (n.588+1729C>T) c.1095C>T (p.Asn365=) c.714C>T (p.Asn238=) c.234+1729C>T (n.234+1729C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2585274_2585275delinsAT | CA2739276107 | KCNQ1 | c.771+1729_771+1730delinsAT (n.771+1729_771+1730delinsAT) c.588+1729_588+1730delinsAT (n.588+1729_588+1730delinsAT) c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp) c.714_715delinsAT (p.Asn238_Arg239delinsLysTrp) c.234+1729_234+1730delinsAT (n.234+1729_234+1730delinsAT) | ClinVar |
| 11 | g.2585275C>A | CA472038504 | KCNQ1 | c.771+1730C>A (n.771+1730C>A) c.588+1730C>A (n.588+1730C>A) c.1096C>A (p.Arg366=) c.715C>A (p.Arg239=) c.234+1730C>A (n.234+1730C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2585275C= | CA1948229071 | KCNQ1 | c.771+1730C= (n.771+1730C=) c.588+1730C= (n.588+1730C=) c.1096C= (p.Arg366=) c.715C= (p.Arg239=) c.234+1730C= (n.234+1730C=) | |
| 11 | g.2585275C>G | CA379133856 | KCNQ1 | c.771+1730C>G (n.771+1730C>G) c.588+1730C>G (n.588+1730C>G) c.1096C>G (p.Arg366Gly) c.715C>G (p.Arg239Gly) c.234+1730C>G (n.234+1730C>G) | |
| 11 | g.2585275C>T | CA005255 | KCNQ1 | c.771+1730C>T (n.771+1730C>T) c.588+1730C>T (n.588+1730C>T) c.1096C>T (p.Arg366Trp) c.715C>T (p.Arg239Trp) c.234+1730C>T (n.234+1730C>T) | ClinVar dbSNP gnomAD v4 |