Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
11 | g.17387438C>T | CA473515668 | KCNJ11 | c.393G>A (p.Gln131=) c.654G>A (p.Gln218=) n.812G>A | |
11 | g.17387439T>A | CA379771735 | KCNJ11 | c.392A>T (p.Gln131Leu) c.653A>T (p.Gln218Leu) n.811A>T | |
11 | g.17387439T>C | CA379771741 | KCNJ11 | c.392A>G (p.Gln131Arg) c.653A>G (p.Gln218Arg) n.811A>G | gnomAD v4 |
11 | g.17387439T>G | CA379771744 | KCNJ11 | c.392A>C (p.Gln131Pro) c.653A>C (p.Gln218Pro) n.811A>C | |
11 | g.17387440G>A | CA379771745 | KCNJ11 | c.391C>T (p.Gln131Ter) c.652C>T (p.Gln218Ter) n.810C>T | gnomAD v4 |
11 | g.17387440G>C | CA379771746 | KCNJ11 | c.391C>G (p.Gln131Glu) c.652C>G (p.Gln218Glu) n.810C>G | |
11 | g.17387440G>T | CA379771750 | KCNJ11 | c.391C>A (p.Gln131Lys) c.652C>A (p.Gln218Lys) n.810C>A | |
11 | g.17387441C>A | CA379771756 | KCNJ11 | c.390G>T (p.Met130Ile) c.651G>T (p.Met217Ile) n.809G>T | |
11 | g.17387441C>G | CA379771760 | KCNJ11 | c.390G>C (p.Met130Ile) c.651G>C (p.Met217Ile) n.809G>C | |
11 | g.17387441C>T | CA379771764 | KCNJ11 | c.390G>A (p.Met130Ile) c.651G>A (p.Met217Ile) n.809G>A | |
11 | g.17387442del | CA473515669 | KCNJ11 | c.389del (p.Met130SerfsTer?) c.650del (p.Met217SerfsTer?) n.808del | COSMIC |
11 | g.17387442A= | CA1955119263 | KCNJ11 | c.389T= (p.Met130=) c.650T= (p.Met217=) n.808T= | |
11 | g.17387442A>C | CA379771771 | KCNJ11 | c.389T>G (p.Met130Arg) c.650T>G (p.Met217Arg) n.808T>G | |
11 | g.17387442A>G | CA5902270 | KCNJ11 | c.389T>C (p.Met130Thr) c.650T>C (p.Met217Thr) n.808T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387442A>T | CA379771780 | KCNJ11 | c.389T>A (p.Met130Lys) c.650T>A (p.Met217Lys) n.808T>A | |
11 | g.17387443T>A | CA379771800 | KCNJ11 | c.388A>T (p.Met130Leu) c.649A>T (p.Met217Leu) n.807A>T | |
11 | g.17387443T>C | CA379771789 | KCNJ11 | c.388A>G (p.Met130Val) c.649A>G (p.Met217Val) n.807A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387443T>G | CA379771785 | KCNJ11 | c.388A>C (p.Met130Leu) c.649A>C (p.Met217Leu) n.807A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387443T= | CA1955119264 | KCNJ11 | c.388A= (p.Met130=) c.649A= (p.Met217=) n.807A= | |
11 | g.17387444G>A | CA473515670 | KCNJ11 | c.387C>T (p.His129=) c.648C>T (p.His216=) n.806C>T | |
11 | g.17387444G>C | CA379771805 | KCNJ11 | c.387C>G (p.His129Gln) c.648C>G (p.His216Gln) n.806C>G |