Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387321_17387327dup | CA658822453 | KCNJ11 | c.504_510dup (p.Tyr171AspfsTer7) c.765_771dup (p.Tyr258AspfsTer7) n.923_929dup | ClinVar dbSNP |
11 | g.17387324G>A | CA473515435 | KCNJ11 | c.507C>T (p.Ile169=) c.768C>T (p.Ile256=) n.926C>T | dbSNP |
11 | g.17387324G>C | CA379770896 | KCNJ11 | c.507C>G (p.Ile169Met) c.768C>G (p.Ile256Met) n.926C>G | |
11 | g.17387324G= | CA1955119213 | KCNJ11 | c.507C= (p.Ile169=) c.768C= (p.Ile256=) n.926C= | |
11 | g.17387324G>T | CA473515438 | KCNJ11 | c.507C>A (p.Ile169=) c.768C>A (p.Ile256=) n.926C>A | |
11 | g.17387325A>C | CA379770900 | KCNJ11 | c.506T>G (p.Ile169Ser) c.767T>G (p.Ile256Ser) n.925T>G | |
11 | g.17387325A>G | CA379770902 | KCNJ11 | c.506T>C (p.Ile169Thr) c.767T>C (p.Ile256Thr) n.925T>C | |
11 | g.17387325A>T | CA379770904 | KCNJ11 | c.506T>A (p.Ile169Asn) c.767T>A (p.Ile256Asn) n.925T>A | |
11 | g.17387326T>A | CA379770909 | KCNJ11 | c.505A>T (p.Ile169Phe) c.766A>T (p.Ile256Phe) n.924A>T | |
11 | g.17387326T>C | CA379770911 | KCNJ11 | c.505A>G (p.Ile169Val) c.766A>G (p.Ile256Val) n.924A>G | |
11 | g.17387326T>G | CA379770914 | KCNJ11 | c.505A>C (p.Ile169Leu) c.766A>C (p.Ile256Leu) n.924A>C | |
11 | g.17387327C>A | CA473515440 | KCNJ11 | c.504G>T (p.Leu168=) c.765G>T (p.Leu255=) n.923G>T | dbSNP |
11 | g.17387327C= | CA1955119214 | KCNJ11 | c.504G= (p.Leu168=) c.765G= (p.Leu255=) n.923G= | |
11 | g.17387327C>G | CA473515441 | KCNJ11 | c.504G>C (p.Leu168=) c.765G>C (p.Leu255=) n.923G>C | |
11 | g.17387327C>T | CA473515442 | KCNJ11 | c.504G>A (p.Leu168=) c.765G>A (p.Leu255=) n.923G>A | dbSNP gnomAD v2 |
11 | g.17387328A>C | CA379770917 | KCNJ11 | c.503T>G (p.Leu168Arg) c.764T>G (p.Leu255Arg) n.922T>G | |
11 | g.17387328A>G | CA379770920 | KCNJ11 | c.503T>C (p.Leu168Pro) c.764T>C (p.Leu255Pro) n.922T>C | |
11 | g.17387328A>T | CA379770923 | KCNJ11 | c.503T>A (p.Leu168Gln) c.764T>A (p.Leu255Gln) n.922T>A | |
11 | g.17387329G>A | CA473515443 | KCNJ11 | c.502C>T (p.Leu168=) c.763C>T (p.Leu255=) n.921C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387329G>C | CA379770924 | KCNJ11 | c.502C>G (p.Leu168Val) c.763C>G (p.Leu255Val) n.921C>G | |
11 | g.17387329G= | CA1955119215 | KCNJ11 | c.502C= (p.Leu168=) c.763C= (p.Leu255=) n.921C= | |
11 | g.17387329G>T | CA379770927 | KCNJ11 | c.502C>A (p.Leu168Met) c.763C>A (p.Leu255Met) n.921C>A | |
11 | g.17387330C>A | CA473515444 | KCNJ11 | c.501G>T (p.Pro167=) c.762G>T (p.Pro254=) n.920G>T | |
11 | g.17387330C= | CA1955119216 | KCNJ11 | c.501G= (p.Pro167=) c.762G= (p.Pro254=) n.920G= | |
11 | g.17387330C>G | CA473515445 | KCNJ11 | c.501G>C (p.Pro167=) c.762G>C (p.Pro254=) n.920G>C | |
11 | g.17387330C>T | CA5902251 | KCNJ11 | c.501G>A (p.Pro167=) c.762G>A (p.Pro254=) n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387331G>A | CA254520 | KCNJ11 | c.500C>T (p.Pro167Leu) c.761C>T (p.Pro254Leu) n.919C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387331G>C | CA379770937 | KCNJ11 | c.500C>G (p.Pro167Arg) c.761C>G (p.Pro254Arg) n.919C>G | |
11 | g.17387331G= | CA1955119217 | KCNJ11 | c.500C= (p.Pro167=) c.761C= (p.Pro254=) n.919C= | |
11 | g.17387331G>T | CA379770938 | KCNJ11 | c.500C>A (p.Pro167Gln) c.761C>A (p.Pro254Gln) n.919C>A | |
11 | g.17387332G>A | CA379770942 | KCNJ11 | c.499C>T (p.Pro167Ser) c.760C>T (p.Pro254Ser) n.918C>T | gnomAD v4 |
11 | g.17387332G>C | CA379770944 | KCNJ11 | c.499C>G (p.Pro167Ala) c.760C>G (p.Pro254Ala) n.918C>G | |
11 | g.17387332G>T | CA379770946 | KCNJ11 | c.499C>A (p.Pro167Thr) c.760C>A (p.Pro254Thr) n.918C>A | |
11 | g.17387333G>A | CA5902252 | KCNJ11 | c.498C>T (p.Ala166=) c.759C>T (p.Ala253=) n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387333G>C | CA5902253 | KCNJ11 | c.498C>G (p.Ala166=) c.759C>G (p.Ala253=) n.917C>G | dbSNP ExAC gnomAD v2 |
11 | g.17387333G= | CA1955119218 | KCNJ11 | c.498C= (p.Ala166=) c.759C= (p.Ala253=) n.917C= | |
11 | g.17387333G>T | CA473515449 | KCNJ11 | c.498C>A (p.Ala166=) c.759C>A (p.Ala253=) n.917C>A | |
11 | g.17387334G>A | CA379770953 | KCNJ11 | c.497C>T (p.Ala166Val) c.758C>T (p.Ala253Val) n.916C>T | dbSNP gnomAD v4 |
11 | g.17387334G>C | CA379770955 | KCNJ11 | c.497C>G (p.Ala166Gly) c.758C>G (p.Ala253Gly) n.916C>G | |
11 | g.17387334G= | CA1955119219 | KCNJ11 | c.497C= (p.Ala166=) c.758C= (p.Ala253=) n.916C= | |
11 | g.17387334G>T | CA379770969 | KCNJ11 | c.497C>A (p.Ala166Asp) c.758C>A (p.Ala253Asp) n.916C>A | gnomAD v4 |
11 | g.17387335C>A | CA379770976 | KCNJ11 | c.496G>T (p.Ala166Ser) c.757G>T (p.Ala253Ser) n.915G>T | gnomAD v4 |
11 | g.17387335C>G | CA379770979 | KCNJ11 | c.496G>C (p.Ala166Pro) c.757G>C (p.Ala253Pro) n.915G>C | |
11 | g.17387335C>T | CA379770974 | KCNJ11 | c.496G>A (p.Ala166Thr) c.757G>A (p.Ala253Thr) n.915G>A | gnomAD v4 |
11 | g.17387336C>A | CA473515454 | KCNJ11 | c.495G>T (p.Val165=) c.756G>T (p.Val252=) n.914G>T | |
11 | g.17387336C>G | CA473515455 | KCNJ11 | c.495G>C (p.Val165=) c.756G>C (p.Val252=) n.914G>C | |
11 | g.17387336C>T | CA473515456 | KCNJ11 | c.495G>A (p.Val165=) c.756G>A (p.Val252=) n.914G>A | |
11 | g.17387337del | CA2612638705 | KCNJ11 | c.494del (p.Val165GlyfsTer4) c.755del (p.Val252GlyfsTer4) n.913del | gnomAD v4 |
11 | g.17387337A= | CA1955119220 | KCNJ11 | c.494T= (p.Val165=) c.755T= (p.Val252=) n.913T= | |
11 | g.17387337A>C | CA379770983 | KCNJ11 | c.494T>G (p.Val165Gly) c.755T>G (p.Val252Gly) n.913T>G |