| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445118dup | CA2611999830 | KCNQ1 | c.24-265dup (n.24-265dup) c.20dup (p.Pro8AlafsTer?) | gnomAD v4 |
| 11 | g.2445118del | CA658797570 | KCNQ1 | c.24-265del (n.24-265del) c.20del (p.Pro7ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445117C>A | CA379115723 | KCNQ1 | c.24-266C>A (n.24-266C>A) c.19C>A (p.Pro7Thr) | gnomAD v3 gnomAD v4 |
| 11 | g.2445117C= | CA1948160749 | KCNQ1 | c.24-266C= (n.24-266C=) c.19C= (p.Pro7=) | |
| 11 | g.2445117C>G | CA379115724 | KCNQ1 | c.24-266C>G (n.24-266C>G) c.19C>G (p.Pro7Ala) | gnomAD v4 |
| 11 | g.2445117C>T | CA006651 | KCNQ1 | c.24-266C>T (n.24-266C>T) c.19C>T (p.Pro7Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2445118C>A | CA379115726 | KCNQ1 | c.24-265C>A (n.24-265C>A) c.20C>A (p.Pro7Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445118C= | CA1948160755 | KCNQ1 | c.24-265C= (n.24-265C=) c.20C= (p.Pro7=) | |
| 11 | g.2445118C>G | CA379115728 | KCNQ1 | c.24-265C>G (n.24-265C>G) c.20C>G (p.Pro7Arg) | gnomAD v4 |
| 11 | g.2445118C>T | CA379115729 | KCNQ1 | c.24-265C>T (n.24-265C>T) c.20C>T (p.Pro7Leu) | gnomAD v3 gnomAD v4 |
| 11 | g.2445119del | CA2611999848 | KCNQ1 | c.24-264del (n.24-264del) c.21del (p.Arg9GlyfsTer?) | gnomAD v4 |
| 11 | g.2445119G>A | CA034469 | KCNQ1 | c.24-264G>A (n.24-264G>A) c.21G>A (p.Pro7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2445119G>C | CA472415609 | KCNQ1 | c.24-264G>C (n.24-264G>C) c.21G>C (p.Pro7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445119G= | CA1948160759 | KCNQ1 | c.24-264G= (n.24-264G=) c.21G= (p.Pro7=) | |
| 11 | g.2445119G>T | CA472415610 | KCNQ1 | c.24-264G>T (n.24-264G>T) c.21G>T (p.Pro7=) | gnomAD v4 |
| 11 | g.2445120C>A | CA379115735 | KCNQ1 | c.24-263C>A (n.24-263C>A) c.22C>A (p.Pro8Thr) | gnomAD v4 |
| 11 | g.2445120C= | CA1948160762 | KCNQ1 | c.24-263C= (n.24-263C=) c.22C= (p.Pro8=) | |
| 11 | g.2445120C>G | CA379115733 | KCNQ1 | c.24-263C>G (n.24-263C>G) c.22C>G (p.Pro8Ala) | gnomAD v4 |
| 11 | g.2445120C>T | CA379115732 | KCNQ1 | c.24-263C>T (n.24-263C>T) c.22C>T (p.Pro8Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445122del | CA2611999850 | KCNQ1 | c.24-261del (n.24-261del) c.24del (p.Arg9GlyfsTer?) | gnomAD v4 |
| 11 | g.2445121C>A | CA379115736 | KCNQ1 | c.24-262C>A (n.24-262C>A) c.23C>A (p.Pro8His) | gnomAD v4 |
| 11 | g.2445121C>G | CA379115738 | KCNQ1 | c.24-262C>G (n.24-262C>G) c.23C>G (p.Pro8Arg) | |
| 11 | g.2445121C>T | CA379115740 | KCNQ1 | c.24-262C>T (n.24-262C>T) c.23C>T (p.Pro8Leu) | gnomAD v4 |
| 11 | g.2445122C>A | CA472415611 | KCNQ1 | c.24-261C>A (n.24-261C>A) c.24C>A (p.Pro8=) | gnomAD v4 |
| 11 | g.2445122C>G | CA472415612 | KCNQ1 | c.24-261C>G (n.24-261C>G) c.24C>G (p.Pro8=) | gnomAD v4 |
| 11 | g.2445122C>T | CA472415613 | KCNQ1 | c.24-261C>T (n.24-261C>T) c.24C>T (p.Pro8=) | gnomAD v4 |
| 11 | g.2445123A>C | CA472415614 | KCNQ1 | c.24-260A>C (n.24-260A>C) c.25A>C (p.Arg9=) | gnomAD v4 |
| 11 | g.2445123A>G | CA379115742 | KCNQ1 | c.24-260A>G (n.24-260A>G) c.25A>G (p.Arg9Gly) | gnomAD v4 |
| 11 | g.2445123A>T | CA379115743 | KCNQ1 | c.24-260A>T (n.24-260A>T) c.25A>T (p.Arg9Trp) | gnomAD v4 |
| 11 | g.2445124G>A | CA379115745 | KCNQ1 | c.24-259G>A (n.24-259G>A) c.26G>A (p.Arg9Lys) | dbSNP gnomAD v4 |
| 11 | g.2445124G>C | CA379115747 | KCNQ1 | c.24-259G>C (n.24-259G>C) c.26G>C (p.Arg9Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445124G= | CA1948160766 | KCNQ1 | c.24-259G= (n.24-259G=) c.26G= (p.Arg9=) | |
| 11 | g.2445124G>T | CA379115748 | KCNQ1 | c.24-259G>T (n.24-259G>T) c.26G>T (p.Arg9Met) | gnomAD v4 |
| 11 | g.2445126del | CA2611999867 | KCNQ1 | c.24-257del (n.24-257del) c.28del (p.Ala10ProfsTer?) | gnomAD v4 |
| 11 | g.2445125G>A | CA472415615 | KCNQ1 | c.24-258G>A (n.24-258G>A) c.27G>A (p.Arg9=) | gnomAD v4 |
| 11 | g.2445125G>C | CA379115749 | KCNQ1 | c.24-258G>C (n.24-258G>C) c.27G>C (p.Arg9Ser) | |
| 11 | g.2445125G>T | CA379115750 | KCNQ1 | c.24-258G>T (n.24-258G>T) c.27G>T (p.Arg9Ser) | gnomAD v4 |
| 11 | g.2445126G>A | CA379115752 | KCNQ1 | c.24-257G>A (n.24-257G>A) c.28G>A (p.Ala10Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445126G>C | CA379115753 | KCNQ1 | c.24-257G>C (n.24-257G>C) c.28G>C (p.Ala10Pro) | gnomAD v4 |
| 11 | g.2445126G= | CA1948160769 | KCNQ1 | c.24-257G= (n.24-257G=) c.28G= (p.Ala10=) | |
| 11 | g.2445126G>T | CA379115754 | KCNQ1 | c.24-257G>T (n.24-257G>T) c.28G>T (p.Ala10Ser) | gnomAD v4 |
| 11 | g.2445127C>A | CA10638245 | KCNQ1 | c.24-256C>A (n.24-256C>A) c.29C>A (p.Ala10Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445127C= | CA1948160772 | KCNQ1 | c.24-256C= (n.24-256C=) c.29C= (p.Ala10=) | |
| 11 | g.2445127C>G | CA379115758 | KCNQ1 | c.24-256C>G (n.24-256C>G) c.29C>G (p.Ala10Gly) | gnomAD v4 |
| 11 | g.2445127C>T | CA379115756 | KCNQ1 | c.24-256C>T (n.24-256C>T) c.29C>T (p.Ala10Val) | gnomAD v4 |
| 11 | g.2445128C>A | CA472415618 | KCNQ1 | c.24-255C>A (n.24-255C>A) c.30C>A (p.Ala10=) | gnomAD v4 |
| 11 | g.2445128C= | CA1948160776 | KCNQ1 | c.24-255C= (n.24-255C=) c.30C= (p.Ala10=) | |
| 11 | g.2445128C>G | CA472415616 | KCNQ1 | c.24-255C>G (n.24-255C>G) c.30C>G (p.Ala10=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2445128C>T | CA472415617 | KCNQ1 | c.24-255C>T (n.24-255C>T) c.30C>T (p.Ala10=) | gnomAD v4 |
| 11 | g.2445129G>A | CA16619303 | KCNQ1 | c.24-254G>A (n.24-254G>A) c.31G>A (p.Glu11Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |