Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
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 | |
2 | g.240877611G>A | CA432025565 | AGXT | c.921G>A (p.Leu307=) n.699G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240877611G>C | CA432025567 | AGXT | c.921G>C (p.Leu307=) n.699G>C | |
2 | g.240877611G= | CA1339335542 | AGXT | c.921G= (p.Leu307=) n.699G= | |
2 | g.240877611G>T | CA432025569 | AGXT | c.921G>T (p.Leu307=) n.699G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877612C>A | CA351319318 | AGXT | c.922C>A (p.Gln308Lys) n.700C>A | gnomAD v4 |
2 | g.240877612C= | CA1339335543 | AGXT | c.922C= (p.Gln308=) n.700C= | |
2 | g.240877612C>G | CA351319315 | AGXT | c.922C>G (p.Gln308Glu) n.700C>G | |
2 | g.240877612C>T | CA275762 | AGXT | c.922C>T (p.Gln308Ter) n.700C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240877613A>C | CA351319320 | AGXT | c.923A>C (p.Gln308Pro) n.701A>C | |
2 | g.240877613A>G | CA351319322 | AGXT | c.923A>G (p.Gln308Arg) n.701A>G | COSMIC |
2 | g.240877613A>T | CA351319324 | AGXT | c.923A>T (p.Gln308Leu) n.701A>T | gnomAD v4 |
2 | g.240877614G>A | CA432025577 | AGXT | c.924G>A (p.Gln308=) n.702G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877614G>C | CA351319326 | AGXT | c.924G>C (p.Gln308His) n.702G>C | |
2 | g.240877614G= | CA1339335544 | AGXT | c.924G= (p.Gln308=) n.702G= | |
2 | g.240877614G>T | CA351319328 | AGXT | c.924G>T (p.Gln308His) n.702G>T | |
2 | g.240877615C>A | CA351319330 | AGXT | c.925C>A (p.Leu309Ile) n.703C>A | gnomAD v4 |
2 | g.240877615C>G | CA351319332 | AGXT | c.925C>G (p.Leu309Val) n.703C>G | |
2 | g.240877615C>T | CA351319333 | AGXT | c.925C>T (p.Leu309Phe) n.703C>T | |
2 | g.240877616T>A | CA351319334 | AGXT | c.926T>A (p.Leu309His) n.704T>A | |
2 | g.240877616T>C | CA351319336 | AGXT | c.926T>C (p.Leu309Pro) n.704T>C | |
2 | g.240877616T>G | CA351319338 | AGXT | c.926T>G (p.Leu309Arg) n.704T>G | |
2 | g.240877617C>A | CA432025594 | AGXT | c.927C>A (p.Leu309=) n.705C>A | gnomAD v4 |
2 | g.240877617C= | CA1339335545 | AGXT | c.927C= (p.Leu309=) n.705C= | |
2 | g.240877617C>G | CA432025591 | AGXT | c.927C>G (p.Leu309=) n.705C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877617C>T | CA432025593 | AGXT | c.927C>T (p.Leu309=) n.705C>T | gnomAD v4 |
2 | g.240877618T>A | CA351319345 | AGXT | c.928T>A (p.Phe310Ile) n.706T>A | gnomAD v4 |
2 | g.240877618T>C | CA351319340 | AGXT | c.928T>C (p.Phe310Leu) n.706T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877618T>G | CA351319342 | AGXT | c.928T>G (p.Phe310Val) n.706T>G | |
2 | g.240877618T= | CA1339335546 | AGXT | c.928T= (p.Phe310=) n.706T= | |
2 | g.240877619T>A | CA351319347 | AGXT | c.929T>A (p.Phe310Tyr) n.707T>A | |
2 | g.240877619T>C | CA351319348 | AGXT | c.929T>C (p.Phe310Ser) n.707T>C | gnomAD v4 |
2 | g.240877619T>G | CA351319349 | AGXT | c.929T>G (p.Phe310Cys) n.707T>G | |
2 | g.240877620C>A | CA351319350 | AGXT | c.930C>A (p.Phe310Leu) n.708C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877620C= | CA1339335547 | AGXT | c.930C= (p.Phe310=) n.708C= | |
2 | g.240877620C>G | CA351319351 | AGXT | c.930C>G (p.Phe310Leu) n.708C>G | |
2 | g.240877620C>T | CA10612922 | AGXT | c.930C>T (p.Phe310=) n.708C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240877621G>A | CA2209334 | AGXT | c.931G>A (p.Val311Met) n.709G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877621G>C | CA68180653 | AGXT | c.931G>C (p.Val311Leu) n.709G>C | dbSNP gnomAD v4 |
2 | g.240877621G= | CA1339335548 | AGXT | c.931G= (p.Val311=) n.709G= | |
2 | g.240877621G>T | CA68180656 | AGXT | c.931G>T (p.Val311Leu) n.709G>T | dbSNP gnomAD v4 |
2 | g.240877622T>A | CA351319359 | AGXT | c.932T>A (p.Val311Glu) n.710T>A | gnomAD v4 |