| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387413_17387414del | CA3003288915 | KCNJ11 | c.417_418del (p.Glu140GlyfsTer?) c.678_679del (p.Glu227GlyfsTer?) n.836_837del | |
| 11 | g.17387414G>A | CA238617 | KCNJ11 | c.417C>T (p.Pro139=) c.678C>T (p.Pro226=) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387414G>C | CA473515643 | KCNJ11 | c.417C>G (p.Pro139=) c.678C>G (p.Pro226=) n.836C>G | dbSNP |
| 11 | g.17387414G= | CA1955119254 | KCNJ11 | c.417C= (p.Pro139=) c.678C= (p.Pro226=) n.836C= | |
| 11 | g.17387414G>T | CA473515642 | KCNJ11 | c.417C>A (p.Pro139=) c.678C>A (p.Pro226=) n.836C>A | |
| 11 | g.17387417dup | CA3003288919 | KCNJ11 | c.417dup (p.Glu140ArgfsTer?) c.678dup (p.Glu227ArgfsTer?) n.836dup | |
| 11 | g.17387417del | CA2612638755 | KCNJ11 | c.417del (p.Glu140ArgfsTer29) c.678del (p.Glu227ArgfsTer29) c.417del (p.Glu140ArgfsTer?) n.836del | gnomAD v4 |
| 11 | g.17387414_17387415insA | CA3003288925 | KCNJ11 | c.416_417insT (p.Glu140ArgfsTer?) c.677_678insT (p.Glu227ArgfsTer?) n.835_836insT | |
| 11 | g.17387415G>A | CA379771556 | KCNJ11 | c.416C>T (p.Pro139Leu) c.677C>T (p.Pro226Leu) n.835C>T | |
| 11 | g.17387415G>C | CA379771559 | KCNJ11 | c.416C>G (p.Pro139Arg) c.677C>G (p.Pro226Arg) n.835C>G | |
| 11 | g.17387415G>T | CA379771561 | KCNJ11 | c.416C>A (p.Pro139His) c.677C>A (p.Pro226His) n.835C>A | |
| 11 | g.17387416G>A | CA379771566 | KCNJ11 | c.415C>T (p.Pro139Ser) c.676C>T (p.Pro226Ser) n.834C>T | gnomAD v4 |
| 11 | g.17387416G>C | CA379771563 | KCNJ11 | c.415C>G (p.Pro139Ala) c.676C>G (p.Pro226Ala) n.834C>G | |
| 11 | g.17387416G>T | CA379771565 | KCNJ11 | c.415C>A (p.Pro139Thr) c.676C>A (p.Pro226Thr) n.834C>A | |
| 11 | g.17387417G>A | CA473515645 | KCNJ11 | c.414C>T (p.Ser138=) c.675C>T (p.Ser225=) n.833C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387417G>C | CA379771569 | KCNJ11 | c.414C>G (p.Ser138Arg) c.675C>G (p.Ser225Arg) n.833C>G | |
| 11 | g.17387417G>T | CA379771571 | KCNJ11 | c.414C>A (p.Ser138Arg) c.675C>A (p.Ser225Arg) n.833C>A | |
| 11 | g.17387418C>A | CA379771574 | KCNJ11 | c.413G>T (p.Ser138Ile) c.674G>T (p.Ser225Ile) n.832G>T | gnomAD v4 |
| 11 | g.17387418C>G | CA379771576 | KCNJ11 | c.413G>C (p.Ser138Thr) c.674G>C (p.Ser225Thr) n.832G>C | |
| 11 | g.17387418C>T | CA379771577 | KCNJ11 | c.413G>A (p.Ser138Asn) c.674G>A (p.Ser225Asn) n.832G>A | COSMIC |
| 11 | g.17387418_17387419insG | CA3003288929 | KCNJ11 | c.412_413insC (p.Ser138ThrfsTer?) c.673_674insC (p.Ser225ThrfsTer?) n.831_832insC | |
| 11 | g.17387419T>A | CA379771580 | KCNJ11 | c.412A>T (p.Ser138Cys) c.673A>T (p.Ser225Cys) n.831A>T | |
| 11 | g.17387419T>C | CA379771582 | KCNJ11 | c.412A>G (p.Ser138Gly) c.673A>G (p.Ser225Gly) n.831A>G | gnomAD v4 |
| 11 | g.17387419T>G | CA379771586 | KCNJ11 | c.412A>C (p.Ser138Arg) c.673A>C (p.Ser225Arg) n.831A>C | |
| 11 | g.17387420G>A | CA473515647 | KCNJ11 | c.411C>T (p.Thr137=) c.672C>T (p.Thr224=) n.830C>T | gnomAD v4 |
| 11 | g.17387420G>C | CA473515648 | KCNJ11 | c.411C>G (p.Thr137=) c.672C>G (p.Thr224=) n.830C>G | |
| 11 | g.17387420G>T | CA473515649 | KCNJ11 | c.411C>A (p.Thr137=) c.672C>A (p.Thr224=) n.830C>A | |
| 11 | g.17387421del | CA3003288930 | KCNJ11 | c.411del (p.Ser138AlafsTer?) c.672del (p.Ser225AlafsTer?) n.830del | |
| 11 | g.17387421G>A | CA379771593 | KCNJ11 | c.410C>T (p.Thr137Ile) c.671C>T (p.Thr224Ile) n.829C>T | |
| 11 | g.17387421G>C | CA379771603 | KCNJ11 | c.410C>G (p.Thr137Ser) c.671C>G (p.Thr224Ser) n.829C>G | |
| 11 | g.17387421G>T | CA379771601 | KCNJ11 | c.410C>A (p.Thr137Asn) c.671C>A (p.Thr224Asn) n.829C>A | |
| 11 | g.17387422T>A | CA379771605 | KCNJ11 | c.409A>T (p.Thr137Ser) c.670A>T (p.Thr224Ser) n.828A>T | |
| 11 | g.17387422T>C | CA379771606 | KCNJ11 | c.409A>G (p.Thr137Ala) c.670A>G (p.Thr224Ala) n.828A>G | |
| 11 | g.17387422T>G | CA379771607 | KCNJ11 | c.409A>C (p.Thr137Pro) c.670A>C (p.Thr224Pro) n.828A>C | dbSNP |
| 11 | g.17387422T= | CA1955119255 | KCNJ11 | c.409A= (p.Thr137=) c.670A= (p.Thr224=) n.828A= | |
| 11 | g.17387422dup | CA3003288932 | KCNJ11 | c.409dup (p.Thr137AsnfsTer?) c.670dup (p.Thr224AsnfsTer?) n.828dup | |
| 11 | g.17387423G>A | CA473515653 | KCNJ11 | c.408C>T (p.Thr136=) c.669C>T (p.Thr223=) n.827C>T | dbSNP gnomAD v2 |
| 11 | g.17387423G>C | CA5902264 | KCNJ11 | c.408C>G (p.Thr136=) c.669C>G (p.Thr223=) n.827C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387423G= | CA1955119256 | KCNJ11 | c.408C= (p.Thr136=) c.669C= (p.Thr223=) n.827C= | |
| 11 | g.17387423G>T | CA473515654 | KCNJ11 | c.408C>A (p.Thr136=) c.669C>A (p.Thr223=) n.827C>A | |
| 11 | g.17387424G>A | CA218399704 | KCNJ11 | c.407C>T (p.Thr136Ile) c.668C>T (p.Thr223Ile) n.826C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387424G>C | CA379771617 | KCNJ11 | c.407C>G (p.Thr136Ser) c.668C>G (p.Thr223Ser) n.826C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387424G= | CA1955119257 | KCNJ11 | c.407C= (p.Thr136=) c.668C= (p.Thr223=) n.826C= | |
| 11 | g.17387424G>T | CA379771613 | KCNJ11 | c.407C>A (p.Thr136Asn) c.668C>A (p.Thr223Asn) n.826C>A | gnomAD v4 |
| 11 | g.17387425T>A | CA379771620 | KCNJ11 | c.406A>T (p.Thr136Ser) c.667A>T (p.Thr223Ser) n.825A>T | |
| 11 | g.17387425T>C | CA379771623 | KCNJ11 | c.406A>G (p.Thr136Ala) c.667A>G (p.Thr223Ala) n.825A>G | |
| 11 | g.17387425T>G | CA379771626 | KCNJ11 | c.406A>C (p.Thr136Pro) c.667A>C (p.Thr223Pro) n.825A>C | dbSNP |
| 11 | g.17387425T= | CA1955119258 | KCNJ11 | c.406A= (p.Thr136=) c.667A= (p.Thr223=) n.825A= | |
| 11 | g.17387425_17387426insGC | CA3003288940 | KCNJ11 | c.405_406insGC (p.Thr136AlafsTer?) c.666_667insGC (p.Thr223AlafsTer?) n.824_825insGC | |
| 11 | g.17387426C>A | CA379771631 | KCNJ11 | c.405G>T (p.Lys135Asn) c.666G>T (p.Lys222Asn) n.824G>T |