| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2445103C>A | CA379115682 | KCNQ1 | c.24-280C>A (n.24-280C>A) c.5C>A (p.Ala2Asp) | gnomAD v4 |
| 11 | g.2445103C= | CA1948160717 | KCNQ1 | c.24-280C= (n.24-280C=) c.5C= (p.Ala2=) | |
| 11 | g.2445103C>G | CA379115683 | KCNQ1 | c.24-280C>G (n.24-280C>G) c.5C>G (p.Ala2Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445103C>T | CA007692 | KCNQ1 | c.24-280C>T (n.24-280C>T) c.5C>T (p.Ala2Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445104C>A | CA472415596 | KCNQ1 | c.24-279C>A (n.24-279C>A) c.6C>A (p.Ala2=) | gnomAD v4 |
| 11 | g.2445104C>G | CA472415594 | KCNQ1 | c.24-279C>G (n.24-279C>G) c.6C>G (p.Ala2=) | gnomAD v4 |
| 11 | g.2445104C>T | CA472415595 | KCNQ1 | c.24-279C>T (n.24-279C>T) c.6C>T (p.Ala2=) | gnomAD v4 |
| 11 | g.2445105G>A | CA379115688 | KCNQ1 | c.24-278G>A (n.24-278G>A) c.7G>A (p.Ala3Thr) | gnomAD v4 |
| 11 | g.2445105G>C | CA379115687 | KCNQ1 | c.24-278G>C (n.24-278G>C) c.7G>C (p.Ala3Pro) | ClinVar |
| 11 | g.2445105G>T | CA379115686 | KCNQ1 | c.24-278G>T (n.24-278G>T) c.7G>T (p.Ala3Ser) | gnomAD v4 |
| 11 | g.2445106C>A | CA379115690 | KCNQ1 | c.24-277C>A (n.24-277C>A) c.8C>A (p.Ala3Glu) | gnomAD v4 |
| 11 | g.2445106C= | CA1948160724 | KCNQ1 | c.24-277C= (n.24-277C=) c.8C= (p.Ala3=) | |
| 11 | g.2445106C>G | CA008561 | KCNQ1 | c.24-277C>G (n.24-277C>G) c.8C>G (p.Ala3Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2445106C>T | CA379115693 | KCNQ1 | c.24-277C>T (n.24-277C>T) c.8C>T (p.Ala3Val) | gnomAD v4 |
| 11 | g.2445107G>A | CA472415597 | KCNQ1 | c.24-276G>A (n.24-276G>A) c.9G>A (p.Ala3=) | ClinVar gnomAD v4 |
| 11 | g.2445107G>C | CA472415598 | KCNQ1 | c.24-276G>C (n.24-276G>C) c.9G>C (p.Ala3=) | |
| 11 | g.2445107G>T | CA472415599 | KCNQ1 | c.24-276G>T (n.24-276G>T) c.9G>T (p.Ala3=) | gnomAD v4 |
| 11 | g.2445108G>A | CA379115694 | KCNQ1 | c.24-275G>A (n.24-275G>A) c.10G>A (p.Ala4Thr) | gnomAD v4 |
| 11 | g.2445108G>C | CA379115695 | KCNQ1 | c.24-275G>C (n.24-275G>C) c.10G>C (p.Ala4Pro) | gnomAD v4 |
| 11 | g.2445108G>T | CA379115697 | KCNQ1 | c.24-275G>T (n.24-275G>T) c.10G>T (p.Ala4Ser) | gnomAD v4 |
| 11 | g.2445109C>A | CA379115699 | KCNQ1 | c.24-274C>A (n.24-274C>A) c.11C>A (p.Ala4Asp) | gnomAD v4 |
| 11 | g.2445109C= | CA1948160731 | KCNQ1 | c.24-274C= (n.24-274C=) c.11C= (p.Ala4=) | |
| 11 | g.2445109C>G | CA379115701 | KCNQ1 | c.24-274C>G (n.24-274C>G) c.11C>G (p.Ala4Gly) | |
| 11 | g.2445109C>T | CA379115702 | KCNQ1 | c.24-274C>T (n.24-274C>T) c.11C>T (p.Ala4Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2445110C>A | CA472415600 | KCNQ1 | c.24-273C>A (n.24-273C>A) c.12C>A (p.Ala4=) | gnomAD v4 |
| 11 | g.2445110C>G | CA472415601 | KCNQ1 | c.24-273C>G (n.24-273C>G) c.12C>G (p.Ala4=) | |
| 11 | g.2445110C>T | CA472415602 | KCNQ1 | c.24-273C>T (n.24-273C>T) c.12C>T (p.Ala4=) | gnomAD v4 |
| 11 | g.2445111T>A | CA379115704 | KCNQ1 | c.24-272T>A (n.24-272T>A) c.13T>A (p.Ser5Thr) | gnomAD v4 |
| 11 | g.2445111T>C | CA379115705 | KCNQ1 | c.24-272T>C (n.24-272T>C) c.13T>C (p.Ser5Pro) | gnomAD v4 |
| 11 | g.2445111T>G | CA379115706 | KCNQ1 | c.24-272T>G (n.24-272T>G) c.13T>G (p.Ser5Ala) | gnomAD v4 |
| 11 | g.2445112C>A | CA379115711 | KCNQ1 | c.24-271C>A (n.24-271C>A) c.14C>A (p.Ser5Tyr) | gnomAD v4 |
| 11 | g.2445112C>G | CA379115709 | KCNQ1 | c.24-271C>G (n.24-271C>G) c.14C>G (p.Ser5Cys) | gnomAD v4 |
| 11 | g.2445112C>T | CA379115707 | KCNQ1 | c.24-271C>T (n.24-271C>T) c.14C>T (p.Ser5Phe) | gnomAD v4 |
| 11 | g.2445113del | CA2611999815 | KCNQ1 | c.24-270del (n.24-270del) c.15del (p.Ser6ProfsTer?) | gnomAD v4 |
| 11 | g.2445113C>A | CA472415603 | KCNQ1 | c.24-270C>A (n.24-270C>A) c.15C>A (p.Ser5=) | gnomAD v4 |
| 11 | g.2445113C>G | CA472415605 | KCNQ1 | c.24-270C>G (n.24-270C>G) c.15C>G (p.Ser5=) | |
| 11 | g.2445113C>T | CA472415604 | KCNQ1 | c.24-270C>T (n.24-270C>T) c.15C>T (p.Ser5=) | ClinVar gnomAD v4 |
| 11 | g.2445114del | CA2611999822 | KCNQ1 | c.24-269del (n.24-269del) c.16del (p.Ser6ProfsTer?) | gnomAD v4 |
| 11 | g.2445114T>A | CA379115713 | KCNQ1 | c.24-269T>A (n.24-269T>A) c.16T>A (p.Ser6Thr) | gnomAD v4 |
| 11 | g.2445114T>C | CA379115714 | KCNQ1 | c.24-269T>C (n.24-269T>C) c.16T>C (p.Ser6Pro) | gnomAD v4 |
| 11 | g.2445114T>G | CA379115716 | KCNQ1 | c.24-269T>G (n.24-269T>G) c.16T>G (p.Ser6Ala) | |
| 11 | g.2445114_2445115delinsTC | CA1948160735 | KCNQ1 | c.24-269_24-268delinsTC (n.24-269_24-268delinsTC) c.16_17delinsTC (p.Ser6=) | |
| 11 | g.2445115C>A | CA379115718 | KCNQ1 | c.24-268C>A (n.24-268C>A) c.17C>A (p.Ser6Tyr) | dbSNP gnomAD v4 |
| 11 | g.2445115C= | CA1948160738 | KCNQ1 | c.24-268C= (n.24-268C=) c.17C= (p.Ser6=) | |
| 11 | g.2445115C>G | CA379115720 | KCNQ1 | c.24-268C>G (n.24-268C>G) c.17C>G (p.Ser6Cys) | gnomAD v4 |
| 11 | g.2445115C>T | CA379115721 | KCNQ1 | c.24-268C>T (n.24-268C>T) c.17C>T (p.Ser6Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 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.2445116C>A | CA472415606 | KCNQ1 | c.24-267C>A (n.24-267C>A) c.18C>A (p.Ser6=) | gnomAD v4 |
| 11 | g.2445116C= | CA1948160744 | KCNQ1 | c.24-267C= (n.24-267C=) c.18C= (p.Ser6=) |