Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387379A>C | CA379771298 | KCNJ11 | c.452T>G (p.Ile151Ser) c.713T>G (p.Ile238Ser) n.871T>G | |
11 | g.17387379A>G | CA379771304 | KCNJ11 | c.452T>C (p.Ile151Thr) c.713T>C (p.Ile238Thr) n.871T>C | |
11 | g.17387379A>T | CA379771305 | KCNJ11 | c.452T>A (p.Ile151Asn) c.713T>A (p.Ile238Asn) n.871T>A | |
11 | g.17387380T>A | CA379771313 | KCNJ11 | c.451A>T (p.Ile151Phe) c.712A>T (p.Ile238Phe) n.870A>T | |
11 | g.17387380T>C | CA379771307 | KCNJ11 | c.451A>G (p.Ile151Val) c.712A>G (p.Ile238Val) n.870A>G | gnomAD v4 |
11 | g.17387380T>G | CA379771310 | KCNJ11 | c.451A>C (p.Ile151Leu) c.712A>C (p.Ile238Leu) n.870A>C | |
11 | g.17387381G>A | CA473515598 | KCNJ11 | c.450C>T (p.Asp150=) c.711C>T (p.Asp237=) n.869C>T | |
11 | g.17387381G>C | CA379771314 | KCNJ11 | c.450C>G (p.Asp150Glu) c.711C>G (p.Asp237Glu) n.869C>G | |
11 | g.17387381G>T | CA379771315 | KCNJ11 | c.450C>A (p.Asp150Glu) c.711C>A (p.Asp237Glu) n.869C>A | |
11 | g.17387382T>A | CA379771316 | KCNJ11 | c.449A>T (p.Asp150Val) c.710A>T (p.Asp237Val) n.868A>T | gnomAD v4 |
11 | g.17387382T>C | CA379771318 | KCNJ11 | c.449A>G (p.Asp150Gly) c.710A>G (p.Asp237Gly) n.868A>G | gnomAD v4 |
11 | g.17387382T>G | CA379771319 | KCNJ11 | c.449A>C (p.Asp150Ala) c.710A>C (p.Asp237Ala) n.868A>C | |
11 | g.17387383C>A | CA379771323 | KCNJ11 | c.448G>T (p.Asp150Tyr) c.709G>T (p.Asp237Tyr) n.867G>T | |
11 | g.17387383C>G | CA379771327 | KCNJ11 | c.448G>C (p.Asp150His) c.709G>C (p.Asp237His) n.867G>C | |
11 | g.17387383C>T | CA379771325 | KCNJ11 | c.448G>A (p.Asp150Asn) c.709G>A (p.Asp237Asn) n.867G>A | |
11 | g.17387384C>A | CA473515601 | KCNJ11 | c.447G>T (p.Val149=) c.708G>T (p.Val236=) n.866G>T | |
11 | g.17387384C= | CA1955119241 | KCNJ11 | c.447G= (p.Val149=) c.708G= (p.Val236=) n.866G= | |
11 | g.17387384C>G | CA473515602 | KCNJ11 | c.447G>C (p.Val149=) c.708G>C (p.Val236=) n.866G>C | |
11 | g.17387384C>T | CA5902260 | KCNJ11 | c.447G>A (p.Val149=) c.708G>A (p.Val236=) n.866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387385A= | CA1955119242 | KCNJ11 | c.446T= (p.Val149=) c.707T= (p.Val236=) n.865T= | |
11 | g.17387385A>C | CA379771334 | KCNJ11 | c.446T>G (p.Val149Gly) c.707T>G (p.Val236Gly) n.865T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387385A>G | CA379771338 | KCNJ11 | c.446T>C (p.Val149Ala) c.707T>C (p.Val236Ala) n.865T>C | |
11 | g.17387385A>T | CA379771342 | KCNJ11 | c.446T>A (p.Val149Glu) c.707T>A (p.Val236Glu) n.865T>A | |
11 | g.17387386C>A | CA379771346 | KCNJ11 | c.445G>T (p.Val149Leu) c.706G>T (p.Val236Leu) n.864G>T | |
11 | g.17387386C= | CA1955119243 | KCNJ11 | c.445G= (p.Val149=) c.706G= (p.Val236=) n.864G= | |
11 | g.17387386C>G | CA379771349 | KCNJ11 | c.445G>C (p.Val149Leu) c.706G>C (p.Val236Leu) n.864G>C | |
11 | g.17387386C>T | CA379771352 | KCNJ11 | c.445G>A (p.Val149Met) c.706G>A (p.Val236Met) n.864G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387387del | CA2612638732 | KCNJ11 | c.445del (p.Val149TrpfsTer20) c.706del (p.Val236TrpfsTer20) c.445del (p.Val149TrpfsTer?) n.864del | gnomAD v4 |
11 | g.17387387C>A | CA379771355 | KCNJ11 | c.444G>T (p.Gln148His) c.705G>T (p.Gln235His) n.863G>T | |
11 | g.17387387C>G | CA379771356 | KCNJ11 | c.444G>C (p.Gln148His) c.705G>C (p.Gln235His) n.863G>C | |
11 | g.17387387C>T | CA473515605 | KCNJ11 | c.444G>A (p.Gln148=) c.705G>A (p.Gln235=) n.863G>A | |
11 | g.17387388T>A | CA379771361 | KCNJ11 | c.443A>T (p.Gln148Leu) c.704A>T (p.Gln235Leu) n.862A>T | |
11 | g.17387388T>C | CA379771364 | KCNJ11 | c.443A>G (p.Gln148Arg) c.704A>G (p.Gln235Arg) n.862A>G | |
11 | g.17387388T>G | CA379771366 | KCNJ11 | c.443A>C (p.Gln148Pro) c.704A>C (p.Gln235Pro) n.862A>C | |
11 | g.17387389G>A | CA379771370 | KCNJ11 | c.442C>T (p.Gln148Ter) c.703C>T (p.Gln235Ter) n.861C>T | |
11 | g.17387389G>C | CA379771373 | KCNJ11 | c.442C>G (p.Gln148Glu) c.703C>G (p.Gln235Glu) n.861C>G | |
11 | g.17387389G>T | CA379771372 | KCNJ11 | c.442C>A (p.Gln148Lys) c.703C>A (p.Gln235Lys) n.861C>A | |
11 | g.17387390G>A | CA473515608 | KCNJ11 | c.441C>T (p.His147=) c.702C>T (p.His234=) n.860C>T | gnomAD v4 |
11 | g.17387390G>C | CA379771376 | KCNJ11 | c.441C>G (p.His147Gln) c.702C>G (p.His234Gln) n.860C>G | |
11 | g.17387390G>T | CA379771379 | KCNJ11 | c.441C>A (p.His147Gln) c.702C>A (p.His234Gln) n.860C>A | |
11 | g.17387391T>A | CA379771384 | KCNJ11 | c.440A>T (p.His147Leu) c.701A>T (p.His234Leu) n.859A>T | |
11 | g.17387391T>C | CA379771387 | KCNJ11 | c.440A>G (p.His147Arg) c.701A>G (p.His234Arg) n.859A>G | |
11 | g.17387391T>G | CA379771390 | KCNJ11 | c.440A>C (p.His147Pro) c.701A>C (p.His234Pro) n.859A>C | |
11 | g.17387392G>A | CA5902261 | KCNJ11 | c.439C>T (p.His147Tyr) c.700C>T (p.His234Tyr) n.858C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387392G>C | CA379771396 | KCNJ11 | c.439C>G (p.His147Asp) c.700C>G (p.His234Asp) n.858C>G | |
11 | g.17387392G= | CA1955119244 | KCNJ11 | c.439C= (p.His147=) c.700C= (p.His234=) n.858C= | |
11 | g.17387392G>T | CA379771395 | KCNJ11 | c.439C>A (p.His147Asn) c.700C>A (p.His234Asn) n.858C>A | |
11 | g.17387393G>A | CA473515612 | KCNJ11 | c.438C>T (p.Leu146=) c.699C>T (p.Leu233=) n.857C>T | |
11 | g.17387393G>C | CA473515611 | KCNJ11 | c.438C>G (p.Leu146=) c.699C>G (p.Leu233=) n.857C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387393G= | CA1955119245 | KCNJ11 | c.438C= (p.Leu146=) c.699C= (p.Leu233=) n.857C= |