| 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.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.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.2585258_2585263dup | CA1948228962 | KCNQ1 | c.771+1713_771+1718dup (n.771+1713_771+1718dup) c.588+1713_588+1718dup (n.588+1713_588+1718dup) c.1079_1084dup (p.Gln361_Lys362insArgGln) c.698_703dup (p.Gln234_Lys235insArgGln) c.234+1713_234+1718dup (n.234+1713_234+1718dup) | ClinVar dbSNP |
| 11 | g.2585255A= | CA1948228970 | KCNQ1 | c.771+1710A= (n.771+1710A=) c.588+1710A= (n.588+1710A=) c.1076A= (p.Gln359=) c.695A= (p.Gln232=) c.234+1710A= (n.234+1710A=) | |
| 11 | g.2585255A>C | CA379133762 | KCNQ1 | c.771+1710A>C (n.771+1710A>C) c.588+1710A>C (n.588+1710A>C) c.1076A>C (p.Gln359Pro) c.695A>C (p.Gln232Pro) c.234+1710A>C (n.234+1710A>C) | ClinVar dbSNP |
| 11 | g.2585255A>G | CA379133763 | KCNQ1 | c.771+1710A>G (n.771+1710A>G) c.588+1710A>G (n.588+1710A>G) c.1076A>G (p.Gln359Arg) c.695A>G (p.Gln232Arg) c.234+1710A>G (n.234+1710A>G) | |
| 11 | g.2585255A>T | CA379133765 | KCNQ1 | c.771+1710A>T (n.771+1710A>T) c.588+1710A>T (n.588+1710A>T) c.1076A>T (p.Gln359Leu) c.695A>T (p.Gln232Leu) c.234+1710A>T (n.234+1710A>T) | |
| 11 | g.2585256G>A | CA472038496 | KCNQ1 | c.771+1711G>A (n.771+1711G>A) c.588+1711G>A (n.588+1711G>A) c.1077G>A (p.Gln359=) c.696G>A (p.Gln232=) c.234+1711G>A (n.234+1711G>A) | |
| 11 | g.2585256G>C | CA379133768 | KCNQ1 | c.771+1711G>C (n.771+1711G>C) c.588+1711G>C (n.588+1711G>C) c.1077G>C (p.Gln359His) c.696G>C (p.Gln232His) c.234+1711G>C (n.234+1711G>C) | |
| 11 | g.2585256G>T | CA379133770 | KCNQ1 | c.771+1711G>T (n.771+1711G>T) c.588+1711G>T (n.588+1711G>T) c.1077G>T (p.Gln359His) c.696G>T (p.Gln232His) c.234+1711G>T (n.234+1711G>T) | |
| 11 | g.2585257A= | CA1948228976 | KCNQ1 | c.771+1712A= (n.771+1712A=) c.588+1712A= (n.588+1712A=) c.1078A= (p.Arg360=) c.697A= (p.Arg233=) c.234+1712A= (n.234+1712A=) | |
| 11 | g.2585257A>C | CA472038497 | KCNQ1 | c.771+1712A>C (n.771+1712A>C) c.588+1712A>C (n.588+1712A>C) c.1078A>C (p.Arg360=) c.697A>C (p.Arg233=) c.234+1712A>C (n.234+1712A>C) | |
| 11 | g.2585257A>G | CA005181 | KCNQ1 | c.771+1712A>G (n.771+1712A>G) c.588+1712A>G (n.588+1712A>G) c.1078A>G (p.Arg360Gly) c.697A>G (p.Arg233Gly) c.234+1712A>G (n.234+1712A>G) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2585257A>T | CA005188 | KCNQ1 | c.771+1712A>T (n.771+1712A>T) c.588+1712A>T (n.588+1712A>T) c.1078A>T (p.Arg360Trp) c.697A>T (p.Arg233Trp) c.234+1712A>T (n.234+1712A>T) | ClinVar dbSNP |
| 11 | g.2585258G>A | CA379133774 | KCNQ1 | c.771+1713G>A (n.771+1713G>A) c.588+1713G>A (n.588+1713G>A) c.1079G>A (p.Arg360Lys) c.698G>A (p.Arg233Lys) c.234+1713G>A (n.234+1713G>A) | ClinVar dbSNP |
| 11 | g.2585258G>C | CA005195 | KCNQ1 | c.771+1713G>C (n.771+1713G>C) c.588+1713G>C (n.588+1713G>C) c.1079G>C (p.Arg360Thr) c.698G>C (p.Arg233Thr) c.234+1713G>C (n.234+1713G>C) | ClinVar dbSNP |
| 11 | g.2585258G= | CA1948228991 | KCNQ1 | c.771+1713G= (n.771+1713G=) c.588+1713G= (n.588+1713G=) c.1079G= (p.Arg360=) c.698G= (p.Arg233=) c.234+1713G= (n.234+1713G=) | |
| 11 | g.2585258G>T | CA005205 | KCNQ1 | c.771+1713G>T (n.771+1713G>T) c.588+1713G>T (n.588+1713G>T) c.1079G>T (p.Arg360Met) c.698G>T (p.Arg233Met) c.234+1713G>T (n.234+1713G>T) | ClinVar dbSNP |
| 11 | g.2585259G>A | CA472038498 | KCNQ1 | c.771+1714G>A (n.771+1714G>A) c.588+1714G>A (n.588+1714G>A) c.1080G>A (p.Arg360=) c.699G>A (p.Arg233=) c.234+1714G>A (n.234+1714G>A) | |
| 11 | g.2585259G>C | CA379133777 | KCNQ1 | c.771+1714G>C (n.771+1714G>C) c.588+1714G>C (n.588+1714G>C) c.1080G>C (p.Arg360Ser) c.699G>C (p.Arg233Ser) c.234+1714G>C (n.234+1714G>C) | |
| 11 | g.2585259G>T | CA379133779 | KCNQ1 | c.771+1714G>T (n.771+1714G>T) c.588+1714G>T (n.588+1714G>T) c.1080G>T (p.Arg360Ser) c.699G>T (p.Arg233Ser) c.234+1714G>T (n.234+1714G>T) | |
| 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.2585260C>A | CA379133786 | KCNQ1 | c.771+1715C>A (n.771+1715C>A) c.588+1715C>A (n.588+1715C>A) c.1081C>A (p.Gln361Lys) c.700C>A (p.Gln234Lys) c.234+1715C>A (n.234+1715C>A) | |
| 11 | g.2585260C= | CA1948229006 | KCNQ1 | c.771+1715C= (n.771+1715C=) c.588+1715C= (n.588+1715C=) c.1081C= (p.Gln361=) c.700C= (p.Gln234=) c.234+1715C= (n.234+1715C=) | |
| 11 | g.2585260C>G | CA379133782 | KCNQ1 | c.771+1715C>G (n.771+1715C>G) c.588+1715C>G (n.588+1715C>G) c.1081C>G (p.Gln361Glu) c.700C>G (p.Gln234Glu) c.234+1715C>G (n.234+1715C>G) | ClinVar dbSNP |
| 11 | g.2585260C>T | CA005213 | KCNQ1 | c.771+1715C>T (n.771+1715C>T) c.588+1715C>T (n.588+1715C>T) c.1081C>T (p.Gln361Ter) c.700C>T (p.Gln234Ter) c.234+1715C>T (n.234+1715C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2585261A>C | CA379133789 | KCNQ1 | c.771+1716A>C (n.771+1716A>C) c.588+1716A>C (n.588+1716A>C) c.1082A>C (p.Gln361Pro) c.701A>C (p.Gln234Pro) c.234+1716A>C (n.234+1716A>C) | |
| 11 | g.2585261A>G | CA379133790 | KCNQ1 | c.771+1716A>G (n.771+1716A>G) c.588+1716A>G (n.588+1716A>G) c.1082A>G (p.Gln361Arg) c.701A>G (p.Gln234Arg) c.234+1716A>G (n.234+1716A>G) | |
| 11 | g.2585261A>T | CA379133793 | KCNQ1 | c.771+1716A>T (n.771+1716A>T) c.588+1716A>T (n.588+1716A>T) c.1082A>T (p.Gln361Leu) c.701A>T (p.Gln234Leu) c.234+1716A>T (n.234+1716A>T) | |
| 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.2585262G>A | CA472038499 | KCNQ1 | c.771+1717G>A (n.771+1717G>A) c.588+1717G>A (n.588+1717G>A) c.1083G>A (p.Gln361=) c.702G>A (p.Gln234=) c.234+1717G>A (n.234+1717G>A) | |
| 11 | g.2585262G>C | CA379133795 | KCNQ1 | c.771+1717G>C (n.771+1717G>C) c.588+1717G>C (n.588+1717G>C) c.1083G>C (p.Gln361His) c.702G>C (p.Gln234His) c.234+1717G>C (n.234+1717G>C) | |
| 11 | g.2585262G>T | CA379133797 | KCNQ1 | c.771+1717G>T (n.771+1717G>T) c.588+1717G>T (n.588+1717G>T) c.1083G>T (p.Gln361His) c.702G>T (p.Gln234His) c.234+1717G>T (n.234+1717G>T) | |
| 11 | g.2585263A>C | CA379133799 | KCNQ1 | c.771+1718A>C (n.771+1718A>C) c.588+1718A>C (n.588+1718A>C) c.1084A>C (p.Lys362Gln) c.703A>C (p.Lys235Gln) c.234+1718A>C (n.234+1718A>C) | |
| 11 | g.2585263A>G | CA379133801 | KCNQ1 | c.771+1718A>G (n.771+1718A>G) c.588+1718A>G (n.588+1718A>G) c.1084A>G (p.Lys362Glu) c.703A>G (p.Lys235Glu) c.234+1718A>G (n.234+1718A>G) | |
| 11 | g.2585263A>T | CA379133803 | KCNQ1 | c.771+1718A>T (n.771+1718A>T) c.588+1718A>T (n.588+1718A>T) c.1084A>T (p.Lys362Ter) c.703A>T (p.Lys235Ter) c.234+1718A>T (n.234+1718A>T) | |
| 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) |