| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.17387393dup | CA3003288899 | KCNJ11 | c.439dup (p.His147ProfsTer29) c.700dup (p.His234ProfsTer29) c.439dup (p.His147ProfsTer?) n.858dup | |
| 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= | |
| 11 | g.17387393G>T | CA473515610 | KCNJ11 | c.438C>A (p.Leu146=) c.699C>A (p.Leu233=) n.857C>A | |
| 11 | g.17387394del | CA3003288901 | KCNJ11 | c.437del (p.Leu146ProfsTer23) c.698del (p.Leu233ProfsTer23) c.437del (p.Leu146ProfsTer?) n.856del | |
| 11 | g.17387394A>C | CA379771401 | KCNJ11 | c.437T>G (p.Leu146Arg) c.698T>G (p.Leu233Arg) n.856T>G | |
| 11 | g.17387394A>G | CA379771403 | KCNJ11 | c.437T>C (p.Leu146Pro) c.698T>C (p.Leu233Pro) n.856T>C | |
| 11 | g.17387394A>T | CA379771405 | KCNJ11 | c.437T>A (p.Leu146His) c.698T>A (p.Leu233His) n.856T>A | |
| 11 | g.17387395G>A | CA379771407 | KCNJ11 | c.436C>T (p.Leu146Phe) c.697C>T (p.Leu233Phe) n.855C>T | ClinVar dbSNP COSMIC |
| 11 | g.17387395G>C | CA379771410 | KCNJ11 | c.436C>G (p.Leu146Val) c.697C>G (p.Leu233Val) n.855C>G | |
| 11 | g.17387395G= | CA1955119246 | KCNJ11 | c.436C= (p.Leu146=) c.697C= (p.Leu233=) n.855C= | |
| 11 | g.17387395G>T | CA379771412 | KCNJ11 | c.436C>A (p.Leu146Ile) c.697C>A (p.Leu233Ile) n.855C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387398dup | CA3003288902 | KCNJ11 | c.436dup (p.Leu146ProfsTer30) c.697dup (p.Leu233ProfsTer30) c.436dup (p.Leu146ProfsTer?) n.855dup | |
| 11 | g.17387398del | CA3003288905 | KCNJ11 | c.436del (p.Leu146SerfsTer23) c.697del (p.Leu233SerfsTer23) c.436del (p.Leu146SerfsTer?) n.855del | |
| 11 | g.17387396G>A | CA473515615 | KCNJ11 | c.435C>T (p.Pro145=) c.696C>T (p.Pro232=) n.854C>T | |
| 11 | g.17387396G>C | CA473515616 | KCNJ11 | c.435C>G (p.Pro145=) c.696C>G (p.Pro232=) n.854C>G | |
| 11 | g.17387396G>T | CA473515617 | KCNJ11 | c.435C>A (p.Pro145=) c.696C>A (p.Pro232=) n.854C>A | |
| 11 | g.17387397G>A | CA218399677 | KCNJ11 | c.434C>T (p.Pro145Leu) c.695C>T (p.Pro232Leu) n.853C>T | dbSNP |
| 11 | g.17387397G>C | CA379771419 | KCNJ11 | c.434C>G (p.Pro145Arg) c.695C>G (p.Pro232Arg) n.853C>G | |
| 11 | g.17387397G= | CA1955119247 | KCNJ11 | c.434C= (p.Pro145=) c.695C= (p.Pro232=) n.853C= | |
| 11 | g.17387397G>T | CA379771416 | KCNJ11 | c.434C>A (p.Pro145His) c.695C>A (p.Pro232His) n.853C>A | |
| 11 | g.17387398G>A | CA379771424 | KCNJ11 | c.433C>T (p.Pro145Ser) c.694C>T (p.Pro232Ser) n.852C>T | |
| 11 | g.17387398G>C | CA379771430 | KCNJ11 | c.433C>G (p.Pro145Ala) c.694C>G (p.Pro232Ala) n.852C>G | |
| 11 | g.17387398G>T | CA379771433 | KCNJ11 | c.433C>A (p.Pro145Thr) c.694C>A (p.Pro232Thr) n.852C>A | |
| 11 | g.17387399C>A | CA473515621 | KCNJ11 | c.432G>T (p.Val144=) c.693G>T (p.Val231=) n.851G>T | |
| 11 | g.17387399C>G | CA473515622 | KCNJ11 | c.432G>C (p.Val144=) c.693G>C (p.Val231=) n.851G>C | |
| 11 | g.17387399C>T | CA473515623 | KCNJ11 | c.432G>A (p.Val144=) c.693G>A (p.Val231=) n.851G>A | ClinVar |
| 11 | g.17387400A>C | CA379771437 | KCNJ11 | c.431T>G (p.Val144Gly) c.692T>G (p.Val231Gly) n.850T>G | |
| 11 | g.17387400A>G | CA379771440 | KCNJ11 | c.431T>C (p.Val144Ala) c.692T>C (p.Val231Ala) n.850T>C | |
| 11 | g.17387400A>T | CA379771443 | KCNJ11 | c.431T>A (p.Val144Glu) c.692T>A (p.Val231Glu) n.850T>A | |
| 11 | g.17387401C>A | CA379771447 | KCNJ11 | c.430G>T (p.Val144Leu) c.691G>T (p.Val231Leu) n.849G>T | |
| 11 | g.17387401C>G | CA379771449 | KCNJ11 | c.430G>C (p.Val144Leu) c.691G>C (p.Val231Leu) n.849G>C | |
| 11 | g.17387401C>T | CA379771451 | KCNJ11 | c.430G>A (p.Val144Met) c.691G>A (p.Val231Met) n.849G>A | |
| 11 | g.17387402del | CA3003288907 | KCNJ11 | c.430del (p.Val144CysfsTer25) c.691del (p.Val231CysfsTer25) c.430del (p.Val144CysfsTer?) n.849del | |
| 11 | g.17387402C>A | CA473515625 | KCNJ11 | c.429G>T (p.Val143=) c.690G>T (p.Val230=) n.848G>T | gnomAD v4 |
| 11 | g.17387402C= | CA1955119248 | KCNJ11 | c.429G= (p.Val143=) c.690G= (p.Val230=) n.848G= | |
| 11 | g.17387402C>G | CA473515626 | KCNJ11 | c.429G>C (p.Val143=) c.690G>C (p.Val230=) n.848G>C | |
| 11 | g.17387402C>T | CA5902262 | KCNJ11 | c.429G>A (p.Val143=) c.690G>A (p.Val230=) n.848G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387403A>C | CA379771459 | KCNJ11 | c.428T>G (p.Val143Gly) c.689T>G (p.Val230Gly) n.847T>G | |
| 11 | g.17387403A>G | CA379771471 | KCNJ11 | c.428T>C (p.Val143Ala) c.689T>C (p.Val230Ala) n.847T>C | |
| 11 | g.17387403A>T | CA379771462 | KCNJ11 | c.428T>A (p.Val143Glu) c.689T>A (p.Val230Glu) n.847T>A | |
| 11 | g.17387404C>A | CA379771475 | KCNJ11 | c.427G>T (p.Val143Leu) c.688G>T (p.Val230Leu) n.846G>T |