Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
2 | g.240877597C>A | CA351319261 | AGXT | c.907C>A (p.Gln303Lys) n.685C>A | gnomAD v4 |
2 | g.240877597C= | CA1339335537 | AGXT | c.907C= (p.Gln303=) n.685C= | |
2 | g.240877597C>G | CA351319263 | AGXT | c.907C>G (p.Gln303Glu) n.685C>G | |
2 | g.240877597C>T | CA275759 | AGXT | c.907C>T (p.Gln303Ter) n.685C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240877598A>C | CA351319266 | AGXT | c.908A>C (p.Gln303Pro) n.686A>C | gnomAD v4 |
2 | g.240877598A>G | CA351319268 | AGXT | c.908A>G (p.Gln303Arg) n.686A>G | gnomAD v4 |
2 | g.240877598A>T | CA351319270 | AGXT | c.908A>T (p.Gln303Leu) n.686A>T | gnomAD v4 |
2 | g.240877599G>A | CA432025505 | AGXT | c.909G>A (p.Gln303=) n.687G>A | |
2 | g.240877599G>C | CA351319272 | AGXT | c.909G>C (p.Gln303His) n.687G>C | |
2 | g.240877599G= | CA1339335538 | AGXT | c.909G= (p.Gln303=) n.687G= | |
2 | g.240877599G>T | CA2209333 | AGXT | c.909G>T (p.Gln303His) n.687G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877600del | CA2586971645 | AGXT | c.910del (p.Ala304HisfsTer8) n.688del | |
2 | g.240877600G>A | CA351319275 | AGXT | c.910G>A (p.Ala304Thr) n.688G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877600G>C | CA351319277 | AGXT | c.910G>C (p.Ala304Pro) n.688G>C | |
2 | g.240877600G= | CA1339335539 | AGXT | c.910G= (p.Ala304=) n.688G= | |
2 | g.240877600G>T | CA351319279 | AGXT | c.910G>T (p.Ala304Ser) n.688G>T | gnomAD v4 |
2 | g.240877601C>A | CA351319283 | AGXT | c.911C>A (p.Ala304Glu) n.689C>A | gnomAD v4 |
2 | g.240877601C>G | CA351319285 | AGXT | c.911C>G (p.Ala304Gly) n.689C>G | |
2 | g.240877601C>T | CA351319281 | AGXT | c.911C>T (p.Ala304Val) n.689C>T | gnomAD v4 |
2 | g.240877602A>C | CA432025524 | AGXT | c.912A>C (p.Ala304=) n.690A>C | gnomAD v4 |
2 | g.240877602A>G | CA432025520 | AGXT | c.912A>G (p.Ala304=) n.690A>G | gnomAD v4 |
2 | g.240877602A>T | CA432025522 | AGXT | c.912A>T (p.Ala304=) n.690A>T | gnomAD v4 |
2 | g.240877603C>A | CA351319287 | AGXT | c.913C>A (p.Leu305Met) n.691C>A | gnomAD v4 |
2 | g.240877603C>G | CA351319289 | AGXT | c.913C>G (p.Leu305Val) n.691C>G | |
2 | g.240877603C>T | CA432025530 | AGXT | c.913C>T (p.Leu305=) n.691C>T | gnomAD v4 |
2 | g.240877604T>A | CA351319292 | AGXT | c.914T>A (p.Leu305Gln) n.692T>A | |
2 | g.240877604T>C | CA351319293 | AGXT | c.914T>C (p.Leu305Pro) n.692T>C | gnomAD v4 |
2 | g.240877604T>G | CA351319294 | AGXT | c.914T>G (p.Leu305Arg) n.692T>G | |
2 | g.240877605G>A | CA432025538 | AGXT | c.915G>A (p.Leu305=) n.693G>A | gnomAD v4 |
2 | g.240877605G>C | CA432025540 | AGXT | c.915G>C (p.Leu305=) n.693G>C | |
2 | g.240877605G>T | CA432025542 | AGXT | c.915G>T (p.Leu305=) n.693G>T | gnomAD v4 |
2 | g.240877606G>A | CA351319298 | AGXT | c.916G>A (p.Gly306Arg) n.694G>A | gnomAD v4 |
2 | g.240877606G>C | CA351319295 | AGXT | c.916G>C (p.Gly306Arg) n.694G>C | |
2 | g.240877606G>T | CA351319296 | AGXT | c.916G>T (p.Gly306Trp) n.694G>T | gnomAD v4 |
2 | g.240877607G>A | CA351319300 | AGXT | c.917G>A (p.Gly306Glu) n.695G>A | |
2 | g.240877607G>C | CA351319301 | AGXT | c.917G>C (p.Gly306Ala) n.695G>C | gnomAD v4 |
2 | g.240877607G>T | CA351319302 | AGXT | c.917G>T (p.Gly306Val) n.695G>T | gnomAD v4 |
2 | g.240877608G>A | CA432025551 | AGXT | c.918G>A (p.Gly306=) n.696G>A | ClinVar gnomAD v4 |
2 | g.240877608G>C | CA432025552 | AGXT | c.918G>C (p.Gly306=) n.696G>C | ClinVar dbSNP gnomAD v4 |
2 | g.240877608G= | CA1339335541 | AGXT | c.918G= (p.Gly306=) n.696G= | |
2 | g.240877608G>T | CA432025553 | AGXT | c.918G>T (p.Gly306=) n.696G>T | gnomAD v4 |
2 | g.240877608_240877609delinsGC | CA1339335540 | AGXT | c.918_919delinsGC (p.Gly306=) n.696_697delinsGC | |
2 | g.240877609del | CA275860 | AGXT | c.919del (p.Leu307CysfsTer5) n.697del | ClinVar dbSNP |
2 | g.240877609C>A | CA351319304 | AGXT | c.919C>A (p.Leu307Met) n.697C>A | gnomAD v4 |
2 | g.240877609C>G | CA351319305 | AGXT | c.919C>G (p.Leu307Val) n.697C>G | |
2 | g.240877609C>T | CA432025559 | AGXT | c.919C>T (p.Leu307=) n.697C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240877610T>A | CA351319310 | AGXT | c.920T>A (p.Leu307Gln) n.698T>A | |
2 | g.240877610T>C | CA351319313 | AGXT | c.920T>C (p.Leu307Pro) n.698T>C | |
2 | g.240877610T>G | CA351319309 | AGXT | c.920T>G (p.Leu307Arg) n.698T>G |