Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
11 | g.17387432T>C | CA473515663 | KCNJ11 | c.399A>G (p.Val133=) c.660A>G (p.Val220=) n.818A>G | |
11 | g.17387432T>G | CA473515664 | KCNJ11 | c.399A>C (p.Val133=) c.660A>C (p.Val220=) n.818A>C | |
11 | g.17387433A>C | CA379771667 | KCNJ11 | c.398T>G (p.Val133Gly) c.659T>G (p.Val220Gly) n.817T>G | |
11 | g.17387433A>G | CA379771677 | KCNJ11 | c.398T>C (p.Val133Ala) c.659T>C (p.Val220Ala) n.817T>C | |
11 | g.17387433A>T | CA379771682 | KCNJ11 | c.398T>A (p.Val133Glu) c.659T>A (p.Val220Glu) n.817T>A | |
11 | g.17387434C>A | CA379771683 | KCNJ11 | c.397G>T (p.Val133Leu) c.658G>T (p.Val220Leu) n.816G>T | |
11 | g.17387434C>G | CA379771684 | KCNJ11 | c.397G>C (p.Val133Leu) c.658G>C (p.Val220Leu) n.816G>C | gnomAD v4 |
11 | g.17387434C>T | CA379771686 | KCNJ11 | c.397G>A (p.Val133Ile) c.658G>A (p.Val220Ile) n.816G>A | gnomAD v4 |
11 | g.17387435C>A | CA473515665 | KCNJ11 | c.396G>T (p.Val132=) c.657G>T (p.Val219=) n.815G>T | |
11 | g.17387435C>G | CA473515666 | KCNJ11 | c.396G>C (p.Val132=) c.657G>C (p.Val219=) n.815G>C | |
11 | g.17387435C>T | CA473515667 | KCNJ11 | c.396G>A (p.Val132=) c.657G>A (p.Val219=) n.815G>A | |
11 | g.17387436A>C | CA379771692 | KCNJ11 | c.395T>G (p.Val132Gly) c.656T>G (p.Val219Gly) n.814T>G | |
11 | g.17387436A>G | CA379771696 | KCNJ11 | c.395T>C (p.Val132Ala) c.656T>C (p.Val219Ala) n.814T>C | |
11 | g.17387436A>T | CA379771700 | KCNJ11 | c.395T>A (p.Val132Glu) c.656T>A (p.Val219Glu) n.814T>A | |
11 | g.17387437C>A | CA5902269 | KCNJ11 | c.394G>T (p.Val132Leu) c.655G>T (p.Val219Leu) n.813G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387437C= | CA1955119262 | KCNJ11 | c.394G= (p.Val132=) c.655G= (p.Val219=) n.813G= | |
11 | g.17387437C>G | CA379771709 | KCNJ11 | c.394G>C (p.Val132Leu) c.655G>C (p.Val219Leu) n.813G>C | |
11 | g.17387437C>T | CA379771712 | KCNJ11 | c.394G>A (p.Val132Met) c.655G>A (p.Val219Met) n.813G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387438C>A | CA379771728 | KCNJ11 | c.393G>T (p.Gln131His) c.654G>T (p.Gln218His) n.812G>T | |
11 | g.17387438C>G | CA379771724 | KCNJ11 | c.393G>C (p.Gln131His) c.654G>C (p.Gln218His) n.812G>C |