| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.17387426C>A | CA379771631 | KCNJ11 | c.405G>T (p.Lys135Asn) c.666G>T (p.Lys222Asn) n.824G>T | |
| 11 | g.17387426C>G | CA379771633 | KCNJ11 | c.405G>C (p.Lys135Asn) c.666G>C (p.Lys222Asn) n.824G>C | |
| 11 | g.17387426C>T | CA473515655 | KCNJ11 | c.405G>A (p.Lys135=) c.666G>A (p.Lys222=) n.824G>A | |
| 11 | g.17387427T>A | CA379771637 | KCNJ11 | c.404A>T (p.Lys135Met) c.665A>T (p.Lys222Met) n.823A>T | |
| 11 | g.17387427T>C | CA379771640 | KCNJ11 | c.404A>G (p.Lys135Arg) c.665A>G (p.Lys222Arg) n.823A>G | |
| 11 | g.17387427T>G | CA379771641 | KCNJ11 | c.404A>C (p.Lys135Thr) c.665A>C (p.Lys222Thr) n.823A>C | |
| 11 | g.17387428T>A | CA379771644 | KCNJ11 | c.403A>T (p.Lys135Ter) c.664A>T (p.Lys222Ter) n.822A>T | |
| 11 | g.17387428T>C | CA379771645 | KCNJ11 | c.403A>G (p.Lys135Glu) c.664A>G (p.Lys222Glu) n.822A>G | |
| 11 | g.17387428T>G | CA5902265 | KCNJ11 | c.403A>C (p.Lys135Gln) c.664A>C (p.Lys222Gln) n.822A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387428T= | CA1955119259 | KCNJ11 | c.403A= (p.Lys135=) c.664A= (p.Lys222=) n.822A= | |
| 11 | g.17387429G>A | CA473515658 | KCNJ11 | c.402C>T (p.Arg134=) c.663C>T (p.Arg221=) n.821C>T | |
| 11 | g.17387429G>C | CA473515659 | KCNJ11 | c.402C>G (p.Arg134=) c.663C>G (p.Arg221=) n.821C>G | |
| 11 | g.17387429G>T | CA473515660 | KCNJ11 | c.402C>A (p.Arg134=) c.663C>A (p.Arg221=) n.821C>A | ClinVar dbSNP |
| 11 | g.17387430C>A | CA218399706 | KCNJ11 | c.401G>T (p.Arg134Leu) c.662G>T (p.Arg221Leu) n.820G>T | dbSNP gnomAD v4 COSMIC |
| 11 | g.17387430C= | CA1955119260 | KCNJ11 | c.401G= (p.Arg134=) c.662G= (p.Arg221=) n.820G= | |
| 11 | g.17387430C>G | CA379771653 | KCNJ11 | c.401G>C (p.Arg134Pro) c.662G>C (p.Arg221Pro) n.820G>C | ClinVar |
| 11 | g.17387430C>T | CA5902266 | KCNJ11 | c.401G>A (p.Arg134His) c.662G>A (p.Arg221His) n.820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387431G>A | CA5902267 | KCNJ11 | c.400C>T (p.Arg134Cys) c.661C>T (p.Arg221Cys) n.819C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387431G>C | CA10605309 | KCNJ11 | c.400C>G (p.Arg134Gly) c.661C>G (p.Arg221Gly) n.819C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387431G= | CA1955119261 | KCNJ11 | c.400C= (p.Arg134=) c.661C= (p.Arg221=) n.819C= | |
| 11 | g.17387431G>T | CA5902268 | KCNJ11 | c.400C>A (p.Arg134Ser) c.661C>A (p.Arg221Ser) n.819C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387432T>A | CA473515662 | KCNJ11 | c.399A>T (p.Val133=) c.660A>T (p.Val220=) n.818A>T |