Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
2 | g.240877572_240877575delinsCGCG | CA1339335519 | AGXT | c.882_885delinsCGCG (p.Ala294=) n.660_663delinsCGCG | |
2 | g.240877573G>A | CA275599 | AGXT | c.883G>A (p.Ala295Thr) n.661G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877573G>C | CA351319172 | AGXT | c.883G>C (p.Ala295Pro) n.661G>C | |
2 | g.240877573G= | CA1339335520 | AGXT | c.883G= (p.Ala295=) n.661G= | |
2 | g.240877573G>T | CA351319170 | AGXT | c.883G>T (p.Ala295Ser) n.661G>T | dbSNP gnomAD v4 |
2 | g.240877576_240877578del | CA275858 | AGXT | c.886_888del (p.Ala296del) n.664_666del | ClinVar dbSNP |
2 | g.240877574C>A | CA351319174 | AGXT | c.884C>A (p.Ala295Glu) n.662C>A | gnomAD v4 |
2 | g.240877574C= | CA1339335521 | AGXT | c.884C= (p.Ala295=) n.662C= | |
2 | g.240877574C>G | CA351319176 | AGXT | c.884C>G (p.Ala295Gly) n.662C>G | |
2 | g.240877574C>T | CA68180610 | AGXT | c.884C>T (p.Ala295Val) n.662C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877575G>A | CA2209330 | AGXT | c.885G>A (p.Ala295=) n.663G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877575G>C | CA432025412 | AGXT | c.885G>C (p.Ala295=) n.663G>C | |
2 | g.240877575G= | CA1339335522 | AGXT | c.885G= (p.Ala295=) n.663G= | |
2 | g.240877575G>T | CA432025414 | AGXT | c.885G>T (p.Ala295=) n.663G>T | gnomAD v4 |
2 | g.240877576G>A | CA351319181 | AGXT | c.886G>A (p.Ala296Thr) n.664G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240877576G>C | CA351319183 | AGXT | c.886G>C (p.Ala296Pro) n.664G>C | |
2 | g.240877576G= | CA1339335523 | AGXT | c.886G= (p.Ala296=) n.664G= | |
2 | g.240877576G>T | CA351319185 | AGXT | c.886G>T (p.Ala296Ser) n.664G>T | gnomAD v4 |
2 | g.240877577C>A | CA351319188 | AGXT | c.887C>A (p.Ala296Glu) n.665C>A | dbSNP gnomAD v4 |
2 | g.240877577C= | CA1339335524 | AGXT | c.887C= (p.Ala296=) n.665C= | |
2 | g.240877577C>G | CA351319189 | AGXT | c.887C>G (p.Ala296Gly) n.665C>G | COSMIC |
2 | g.240877577C>T | CA2209331 | AGXT | c.887C>T (p.Ala296Val) n.665C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877578G>A | CA68180616 | AGXT | c.888G>A (p.Ala296=) n.666G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240877578G>C | CA68180618 | AGXT | c.888G>C (p.Ala296=) n.666G>C | dbSNP |
2 | g.240877578G= | CA1339335525 | AGXT | c.888G= (p.Ala296=) n.666G= | |
2 | g.240877578G>T | CA432025422 | AGXT | c.888G>T (p.Ala296=) n.666G>T | gnomAD v4 |
2 | g.240877579T>A | CA351319197 | AGXT | c.889T>A (p.Tyr297Asn) n.667T>A | |
2 | g.240877579T>C | CA351319195 | AGXT | c.889T>C (p.Tyr297His) n.667T>C | gnomAD v4 |
2 | g.240877579T>G | CA351319193 | AGXT | c.889T>G (p.Tyr297Asp) n.667T>G | |
2 | g.240877580A>C | CA351319199 | AGXT | c.890A>C (p.Tyr297Ser) n.668A>C | |
2 | g.240877580A>G | CA351319203 | AGXT | c.890A>G (p.Tyr297Cys) n.668A>G | gnomAD v4 |
2 | g.240877580A>T | CA351319201 | AGXT | c.890A>T (p.Tyr297Phe) n.668A>T | |
2 | g.240877581T>A | CA351319205 | AGXT | c.891T>A (p.Tyr297Ter) n.669T>A | |
2 | g.240877581T>C | CA432025430 | AGXT | c.891T>C (p.Tyr297=) n.669T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877581T>G | CA275755 | AGXT | c.891T>G (p.Tyr297Ter) n.669T>G | ClinVar dbSNP |
2 | g.240877581T= | CA1339335526 | AGXT | c.891T= (p.Tyr297=) n.669T= | |
2 | g.240877582C>A | CA351319208 | AGXT | c.892C>A (p.Leu298Met) n.670C>A | dbSNP gnomAD v4 |
2 | g.240877582C>G | CA351319210 | AGXT | c.892C>G (p.Leu298Val) n.670C>G | |
2 | g.240877582C>T | CA432025435 | AGXT | c.892C>T (p.Leu298=) n.670C>T | ClinVar dbSNP |
2 | g.240877583T>A | CA351319212 | AGXT | c.893T>A (p.Leu298Gln) n.671T>A | |
2 | g.240877583T>C | CA275758 | AGXT | c.893T>C (p.Leu298Pro) n.671T>C | ClinVar dbSNP |
2 | g.240877583T>G | CA351319216 | AGXT | c.893T>G (p.Leu298Arg) n.671T>G | |
2 | g.240877583T= | CA1339335527 | AGXT | c.893T= (p.Leu298=) n.671T= | |
2 | g.240877584G>A | CA432025440 | AGXT | c.894G>A (p.Leu298=) n.672G>A | gnomAD v4 |
2 | g.240877584G>C | CA432025442 | AGXT | c.894G>C (p.Leu298=) n.672G>C | gnomAD v4 |
2 | g.240877584G>T | CA432025444 | AGXT | c.894G>T (p.Leu298=) n.672G>T | gnomAD v4 |
2 | g.240877585C>A | CA351319218 | AGXT | c.895C>A (p.His299Asn) n.673C>A | dbSNP gnomAD v4 |
2 | g.240877585C= | CA1339335528 | AGXT | c.895C= (p.His299=) n.673C= | |
2 | g.240877585C>G | CA351319219 | AGXT | c.895C>G (p.His299Asp) n.673C>G |