Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2445161_2445168delinsAGGCGCCC | CA1948160842 | KCNQ1 | c.24-222_24-215delinsAGGCGCCC (n.24-222_24-215delinsAGGCGCCC) c.63_70delinsAGGCGCCC (p.Pro21=) | |
11 | g.2445166_2445172del | CA918805505 | KCNQ1 | c.24-217_24-211del (n.24-217_24-211del) c.68_74del (p.Ala23GlyfsTer?) | dbSNP |
11 | g.2445166_2445228del | CA2611999930 | KCNQ1 | c.24-217_24-155del (n.24-217_24-155del) c.68_130del (p.Ala23_Gly43del) | gnomAD v4 |
11 | g.2445173_2445270del | CA2790193839 | KCNQ1 | c.24-210_24-113del (n.24-210_24-113del) c.75_172del (p.Gly26ProfsTer?) | |
11 | g.2445175_2445238del | CA2611999932 | KCNQ1 | c.24-208_24-145del (n.24-208_24-145del) c.77_140del (p.Gly26AlafsTer?) | gnomAD v4 |
11 | g.2445168del | CA2611999934 | KCNQ1 | c.24-215del (n.24-215del) c.70del (p.Arg24GlyfsTer?) | gnomAD v4 |
11 | g.2445167C>A | CA472415644 | KCNQ1 | c.24-216C>A (n.24-216C>A) c.69C>A (p.Ala23=) | gnomAD v4 |
11 | g.2445167C>G | CA472415645 | KCNQ1 | c.24-216C>G (n.24-216C>G) c.69C>G (p.Ala23=) | gnomAD v4 |
11 | g.2445167C>T | CA472415646 | KCNQ1 | c.24-216C>T (n.24-216C>T) c.69C>T (p.Ala23=) | gnomAD v4 |
11 | g.2445167_2445170delinsCCGG | CA1948160850 | KCNQ1 | c.24-216_24-213delinsCCGG (n.24-216_24-213delinsCCGG) c.69_72delinsCCGG (p.Ala23=) | |
11 | g.2445168C>A | CA472415648 | KCNQ1 | c.24-215C>A (n.24-215C>A) c.70C>A (p.Arg24=) | gnomAD v4 |
11 | g.2445168C= | CA1948160851 | KCNQ1 | c.24-215C= (n.24-215C=) c.70C= (p.Arg24=) | |
11 | g.2445168C>G | CA379116029 | KCNQ1 | c.24-215C>G (n.24-215C>G) c.70C>G (p.Arg24Gly) | |
11 | g.2445168C>T | CA216292541 | KCNQ1 | c.24-215C>T (n.24-215C>T) c.70C>T (p.Arg24Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445171_2445173del | CA934455195 | KCNQ1 | c.24-212_24-210del (n.24-212_24-210del) c.73_75del (p.Arg25del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445169G>A | CA379116039 | KCNQ1 | c.24-214G>A (n.24-214G>A) c.71G>A (p.Arg24Gln) | gnomAD v4 |
11 | g.2445169G>C | CA379116037 | KCNQ1 | c.24-214G>C (n.24-214G>C) c.71G>C (p.Arg24Pro) | gnomAD v4 |
11 | g.2445169G>T | CA379116035 | KCNQ1 | c.24-214G>T (n.24-214G>T) c.71G>T (p.Arg24Leu) | gnomAD v4 |
11 | g.2445170del | CA2611999936 | KCNQ1 | c.24-213del (n.24-213del) c.72del (p.Arg25GlyfsTer?) | gnomAD v4 |
11 | g.2445170G>A | CA472415649 | KCNQ1 | c.24-213G>A (n.24-213G>A) c.72G>A (p.Arg24=) | gnomAD v4 |
11 | g.2445170G>C | CA472415650 | KCNQ1 | c.24-213G>C (n.24-213G>C) c.72G>C (p.Arg24=) | gnomAD v4 |
11 | g.2445170G>T | CA472415651 | KCNQ1 | c.24-213G>T (n.24-213G>T) c.72G>T (p.Arg24=) | gnomAD v4 |
11 | g.2445170_2445171delinsGC | CA1948160852 | KCNQ1 | c.24-213_24-212delinsGC (n.24-213_24-212delinsGC) c.72_73delinsGC (p.Arg24=) | |
11 | g.2445171del | CA597432437 | KCNQ1 | c.24-212del (n.24-212del) c.73del (p.Arg25GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445171C>A | CA472415652 | KCNQ1 | c.24-212C>A (n.24-212C>A) c.73C>A (p.Arg25=) | gnomAD v4 |
11 | g.2445171C>G | CA379116043 | KCNQ1 | c.24-212C>G (n.24-212C>G) c.73C>G (p.Arg25Gly) | gnomAD v4 |
11 | g.2445171C>T | CA379116045 | KCNQ1 | c.24-212C>T (n.24-212C>T) c.73C>T (p.Arg25Trp) | gnomAD v4 |
11 | g.2445171_2445172delinsCG | CA1948160853 | KCNQ1 | c.24-212_24-211delinsCG (n.24-212_24-211delinsCG) c.73_74delinsCG (p.Arg25=) | |
11 | g.2445172G>A | CA379116048 | KCNQ1 | c.24-211G>A (n.24-211G>A) c.74G>A (p.Arg25Gln) | gnomAD v4 |
11 | g.2445172G>C | CA379116049 | KCNQ1 | c.24-211G>C (n.24-211G>C) c.74G>C (p.Arg25Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.2445172G= | CA1948160854 | KCNQ1 | c.24-211G= (n.24-211G=) c.74G= (p.Arg25=) | |
11 | g.2445172G>T | CA379116052 | KCNQ1 | c.24-211G>T (n.24-211G>T) c.74G>T (p.Arg25Leu) | gnomAD v4 |
11 | g.2445175del | CA597432438 | KCNQ1 | c.24-208del (n.24-208del) c.77del (p.Gly26AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445174_2445175del | CA2611999937 | KCNQ1 | c.24-209_24-208del (n.24-209_24-208del) c.76_77del (p.Gly26GlnfsTer?) | gnomAD v4 |
11 | g.2445173G>A | CA472415654 | KCNQ1 | c.24-210G>A (n.24-210G>A) c.75G>A (p.Arg25=) | gnomAD v4 |
11 | g.2445173G>C | CA472415655 | KCNQ1 | c.24-210G>C (n.24-210G>C) c.75G>C (p.Arg25=) | gnomAD v4 |
11 | g.2445173G>T | CA472415656 | KCNQ1 | c.24-210G>T (n.24-210G>T) c.75G>T (p.Arg25=) | gnomAD v4 |
11 | g.2445174G>A | CA379116056 | KCNQ1 | c.24-209G>A (n.24-209G>A) c.76G>A (p.Gly26Ser) | gnomAD v4 |
11 | g.2445174G>C | CA379116057 | KCNQ1 | c.24-209G>C (n.24-209G>C) c.76G>C (p.Gly26Arg) | gnomAD v4 |
11 | g.2445174G>T | CA379116059 | KCNQ1 | c.24-209G>T (n.24-209G>T) c.76G>T (p.Gly26Cys) | gnomAD v4 |
11 | g.2445175G>A | CA379116062 | KCNQ1 | c.24-208G>A (n.24-208G>A) c.77G>A (p.Gly26Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445175G>C | CA379116064 | KCNQ1 | c.24-208G>C (n.24-208G>C) c.77G>C (p.Gly26Ala) | gnomAD v4 |
11 | g.2445175G= | CA1948160855 | KCNQ1 | c.24-208G= (n.24-208G=) c.77G= (p.Gly26=) | |
11 | g.2445175G>T | CA379116065 | KCNQ1 | c.24-208G>T (n.24-208G>T) c.77G>T (p.Gly26Val) | gnomAD v4 |
11 | g.2445176C>A | CA472415659 | KCNQ1 | c.24-207C>A (n.24-207C>A) c.78C>A (p.Gly26=) | gnomAD v4 |
11 | g.2445176C>G | CA472415657 | KCNQ1 | c.24-207C>G (n.24-207C>G) c.78C>G (p.Gly26=) | gnomAD v4 |
11 | g.2445176C>T | CA472415658 | KCNQ1 | c.24-207C>T (n.24-207C>T) c.78C>T (p.Gly26=) | gnomAD v4 |
11 | g.2445177A>C | CA379116075 | KCNQ1 | c.24-206A>C (n.24-206A>C) c.79A>C (p.Ser27Arg) | gnomAD v4 |
11 | g.2445177A>G | CA379116077 | KCNQ1 | c.24-206A>G (n.24-206A>G) c.79A>G (p.Ser27Gly) | gnomAD v4 |
11 | g.2445177A>T | CA379116080 | KCNQ1 | c.24-206A>T (n.24-206A>T) c.79A>T (p.Ser27Cys) | gnomAD v4 |