Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2527981A= | CA1948196766 | KCNQ1 | c.179A= (p.Gln60=) c.440A= (p.Gln147=) c.59A= (p.Gln20=) c.86A= (p.Gln29=) | |
11 | g.2527981A>C | CA379121910 | KCNQ1 | c.179A>C (p.Gln60Pro) c.440A>C (p.Gln147Pro) c.59A>C (p.Gln20Pro) c.86A>C (p.Gln29Pro) | |
11 | g.2527981A>G | CA007099 | KCNQ1 | c.179A>G (p.Gln60Arg) c.440A>G (p.Gln147Arg) c.59A>G (p.Gln20Arg) c.86A>G (p.Gln29Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527981A>T | CA379121912 | KCNQ1 | c.179A>T (p.Gln60Leu) c.440A>T (p.Gln147Leu) c.59A>T (p.Gln20Leu) c.86A>T (p.Gln29Leu) | ClinVar dbSNP |
11 | g.2527982G>A | CA472038255 | KCNQ1 | c.180G>A (p.Gln60=) c.441G>A (p.Gln147=) c.60G>A (p.Gln20=) c.87G>A (p.Gln29=) | |
11 | g.2527982G>C | CA379121914 | KCNQ1 | c.180G>C (p.Gln60His) c.441G>C (p.Gln147His) c.60G>C (p.Gln20His) c.87G>C (p.Gln29His) | |
11 | g.2527982G>T | CA379121916 | KCNQ1 | c.180G>T (p.Gln60His) c.441G>T (p.Gln147His) c.60G>T (p.Gln20His) c.87G>T (p.Gln29His) | |
11 | g.2527983T>A | CA379121917 | KCNQ1 | c.181T>A (p.Tyr61Asn) c.442T>A (p.Tyr148Asn) c.61T>A (p.Tyr21Asn) c.88T>A (p.Tyr30Asn) | |
11 | g.2527983T>C | CA379121918 | KCNQ1 | c.181T>C (p.Tyr61His) c.442T>C (p.Tyr148His) c.61T>C (p.Tyr21His) c.88T>C (p.Tyr30His) | |
11 | g.2527983T>G | CA379121921 | KCNQ1 | c.181T>G (p.Tyr61Asp) c.442T>G (p.Tyr148Asp) c.61T>G (p.Tyr21Asp) c.88T>G (p.Tyr30Asp) | |
11 | g.2527983_2527984delinsTA | CA1948196767 | KCNQ1 | c.181_182delinsTA (p.Tyr61=) c.442_443delinsTA (p.Tyr148=) c.61_62delinsTA (p.Tyr21=) c.88_89delinsTA (p.Tyr30=) | |
11 | g.2527984del | CA10575750 | KCNQ1 | c.182del (p.Tyr61LeufsTer?) c.443del (p.Tyr148LeufsTer?) c.62del (p.Tyr21LeufsTer?) c.89del (p.Tyr30LeufsTer?) | ClinVar dbSNP |
11 | g.2527984A>C | CA379121927 | KCNQ1 | c.182A>C (p.Tyr61Ser) c.443A>C (p.Tyr148Ser) c.62A>C (p.Tyr21Ser) c.89A>C (p.Tyr30Ser) | |
11 | g.2527984A>G | CA379121930 | KCNQ1 | c.182A>G (p.Tyr61Cys) c.443A>G (p.Tyr148Cys) c.62A>G (p.Tyr21Cys) c.89A>G (p.Tyr30Cys) | |
11 | g.2527984A>T | CA379121925 | KCNQ1 | c.182A>T (p.Tyr61Phe) c.443A>T (p.Tyr148Phe) c.62A>T (p.Tyr21Phe) c.89A>T (p.Tyr30Phe) | |
11 | g.2527984dup | CA2574728111 | KCNQ1 | c.182dup (p.Tyr61Ter) c.443dup (p.Tyr148Ter) c.62dup (p.Tyr21Ter) c.89dup (p.Tyr30Ter) | |
11 | g.2527985T>A | CA379121934 | KCNQ1 | c.183T>A (p.Tyr61Ter) c.444T>A (p.Tyr148Ter) c.63T>A (p.Tyr21Ter) c.90T>A (p.Tyr30Ter) | |
11 | g.2527985T>C | CA472038256 | KCNQ1 | c.183T>C (p.Tyr61=) c.444T>C (p.Tyr148=) c.63T>C (p.Tyr21=) c.90T>C (p.Tyr30=) | gnomAD v4 |
11 | g.2527985T>G | CA379121933 | KCNQ1 | c.183T>G (p.Tyr61Ter) c.444T>G (p.Tyr148Ter) c.63T>G (p.Tyr21Ter) c.90T>G (p.Tyr30Ter) | |
11 | g.2527986G>A | CA379121937 | KCNQ1 | c.184G>A (p.Ala62Thr) c.445G>A (p.Ala149Thr) c.64G>A (p.Ala22Thr) c.91G>A (p.Ala31Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527986G>C | CA379121936 | KCNQ1 | c.184G>C (p.Ala62Pro) c.445G>C (p.Ala149Pro) c.64G>C (p.Ala22Pro) c.91G>C (p.Ala31Pro) | |
11 | g.2527986G= | CA1948196768 | KCNQ1 | c.184G= (p.Ala62=) c.445G= (p.Ala149=) c.64G= (p.Ala22=) c.91G= (p.Ala31=) | |
11 | g.2527986G>T | CA379121939 | KCNQ1 | c.184G>T (p.Ala62Ser) c.445G>T (p.Ala149Ser) c.64G>T (p.Ala22Ser) c.91G>T (p.Ala31Ser) | |
11 | g.2527987C>A | CA379121941 | KCNQ1 | c.185C>A (p.Ala62Asp) c.446C>A (p.Ala149Asp) c.65C>A (p.Ala22Asp) c.92C>A (p.Ala31Asp) | |
11 | g.2527987C= | CA1948196769 | KCNQ1 | c.185C= (p.Ala62=) c.446C= (p.Ala149=) c.65C= (p.Ala22=) c.92C= (p.Ala31=) | |
11 | g.2527987C>G | CA379121959 | KCNQ1 | c.185C>G (p.Ala62Gly) c.446C>G (p.Ala149Gly) c.65C>G (p.Ala22Gly) c.92C>G (p.Ala31Gly) | |
11 | g.2527987C>T | CA216319515 | KCNQ1 | c.185C>T (p.Ala62Val) c.446C>T (p.Ala149Val) c.65C>T (p.Ala22Val) c.92C>T (p.Ala31Val) | dbSNP gnomAD v4 |
11 | g.2527988C>A | CA472038257 | KCNQ1 | c.186C>A (p.Ala62=) c.447C>A (p.Ala149=) c.66C>A (p.Ala22=) c.93C>A (p.Ala31=) | |
11 | g.2527988C= | CA1948196770 | KCNQ1 | c.186C= (p.Ala62=) c.447C= (p.Ala149=) c.66C= (p.Ala22=) c.93C= (p.Ala31=) | |
11 | g.2527988C>G | CA472038258 | KCNQ1 | c.186C>G (p.Ala62=) c.447C>G (p.Ala149=) c.66C>G (p.Ala22=) c.93C>G (p.Ala31=) | |
11 | g.2527988C>T | CA007107 | KCNQ1 | c.186C>T (p.Ala62=) c.447C>T (p.Ala149=) c.66C>T (p.Ala22=) c.93C>T (p.Ala31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527989G>A | CA007116 | KCNQ1 | c.187G>A (p.Ala63Thr) c.448G>A (p.Ala150Thr) c.67G>A (p.Ala23Thr) c.94G>A (p.Ala32Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527989G>C | CA379121962 | KCNQ1 | c.187G>C (p.Ala63Pro) c.448G>C (p.Ala150Pro) c.67G>C (p.Ala23Pro) c.94G>C (p.Ala32Pro) | |
11 | g.2527989G= | CA1948196771 | KCNQ1 | c.187G= (p.Ala63=) c.448G= (p.Ala150=) c.67G= (p.Ala23=) c.94G= (p.Ala32=) | |
11 | g.2527989G>T | CA379121964 | KCNQ1 | c.187G>T (p.Ala63Ser) c.448G>T (p.Ala150Ser) c.67G>T (p.Ala23Ser) c.94G>T (p.Ala32Ser) | gnomAD v4 |
11 | g.2527990C>A | CA379121967 | KCNQ1 | c.188C>A (p.Ala63Asp) c.449C>A (p.Ala150Asp) c.68C>A (p.Ala23Asp) c.95C>A (p.Ala32Asp) | |
11 | g.2527990C= | CA1948196772 | KCNQ1 | c.188C= (p.Ala63=) c.449C= (p.Ala150=) c.68C= (p.Ala23=) c.95C= (p.Ala32=) | |
11 | g.2527990C>G | CA007123 | KCNQ1 | c.188C>G (p.Ala63Gly) c.449C>G (p.Ala150Gly) c.68C>G (p.Ala23Gly) c.95C>G (p.Ala32Gly) | ClinVar dbSNP |
11 | g.2527990C>T | CA379121970 | KCNQ1 | c.188C>T (p.Ala63Val) c.449C>T (p.Ala150Val) c.68C>T (p.Ala23Val) c.95C>T (p.Ala32Val) | dbSNP gnomAD v4 |
11 | g.2527991C>A | CA472038259 | KCNQ1 | c.189C>A (p.Ala63=) c.450C>A (p.Ala150=) c.69C>A (p.Ala23=) c.96C>A (p.Ala32=) | gnomAD v4 |
11 | g.2527991C>G | CA472038260 | KCNQ1 | c.189C>G (p.Ala63=) c.450C>G (p.Ala150=) c.69C>G (p.Ala23=) c.96C>G (p.Ala32=) | |
11 | g.2527991C>T | CA472038261 | KCNQ1 | c.189C>T (p.Ala63=) c.450C>T (p.Ala150=) c.69C>T (p.Ala23=) c.96C>T (p.Ala32=) | |
11 | g.2527991_2527993delinsCCT | CA1948196773 | KCNQ1 | c.189_191delinsCCT (p.Ala63=) c.450_452delinsCCT (p.Ala150=) c.69_71delinsCCT (p.Ala23=) c.96_98delinsCCT (p.Ala32=) | |
11 | g.2527992C>A | CA379121973 | KCNQ1 | c.190C>A (p.Leu64Met) c.451C>A (p.Leu151Met) c.70C>A (p.Leu24Met) c.97C>A (p.Leu33Met) | |
11 | g.2527992C>G | CA379121976 | KCNQ1 | c.190C>G (p.Leu64Val) c.451C>G (p.Leu151Val) c.70C>G (p.Leu24Val) c.97C>G (p.Leu33Val) | |
11 | g.2527992C>T | CA472038262 | KCNQ1 | c.190C>T (p.Leu64=) c.451C>T (p.Leu151=) c.70C>T (p.Leu24=) c.97C>T (p.Leu33=) | |
11 | g.2527992_2527993del | CA007133 | KCNQ1 | c.190_191del (p.Leu64GlyfsTer?) c.451_452del (p.Leu151GlyfsTer?) c.70_71del (p.Leu24GlyfsTer?) c.97_98del (p.Leu33GlyfsTer?) | ClinVar dbSNP |
11 | g.2527993T>A | CA379121979 | KCNQ1 | c.191T>A (p.Leu64Gln) c.452T>A (p.Leu151Gln) c.71T>A (p.Leu24Gln) c.98T>A (p.Leu33Gln) | |
11 | g.2527993T>C | CA379121982 | KCNQ1 | c.191T>C (p.Leu64Pro) c.452T>C (p.Leu151Pro) c.71T>C (p.Leu24Pro) c.98T>C (p.Leu33Pro) | COSMIC |
11 | g.2527993T>G | CA379121986 | KCNQ1 | c.191T>G (p.Leu64Arg) c.452T>G (p.Leu151Arg) c.71T>G (p.Leu24Arg) c.98T>G (p.Leu33Arg) |