Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240876650_240877771del | CA275856 | AGXT | c.846+646_942+139del | ClinVar |
2 | g.240877576_240877578del | CA275858 | AGXT | c.886_888del (p.Ala296del) n.664_666del | ClinVar dbSNP |
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 | |
2 | g.240877585C>T | CA351319221 | AGXT | c.895C>T (p.His299Tyr) n.673C>T | dbSNP gnomAD v4 |
2 | g.240877586A= | CA1339335529 | AGXT | c.896A= (p.His299=) n.674A= | |
2 | g.240877586A>C | CA351319223 | AGXT | c.896A>C (p.His299Pro) n.674A>C | |
2 | g.240877586A>G | CA2209332 | AGXT | c.896A>G (p.His299Arg) n.674A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240877586A>T | CA351319226 | AGXT | c.896A>T (p.His299Leu) n.674A>T | |
2 | g.240877587T>A | CA351319228 | AGXT | c.897T>A (p.His299Gln) n.675T>A | |
2 | g.240877587T>C | CA432025458 | AGXT | c.897T>C (p.His299=) n.675T>C | ClinVar dbSNP |
2 | g.240877587T>G | CA351319230 | AGXT | c.897T>G (p.His299Gln) n.675T>G | |
2 | g.240877587T= | CA1339335530 | AGXT | c.897T= (p.His299=) n.675T= | |
2 | g.240877588G>A | CA351319236 | AGXT | c.898G>A (p.Gly300Arg) n.676G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240877588G>C | CA351319232 | AGXT | c.898G>C (p.Gly300Arg) n.676G>C | |
2 | g.240877588G= | CA1339335531 | AGXT | c.898G= (p.Gly300=) n.676G= | |
2 | g.240877588G>T | CA351319234 | AGXT | c.898G>T (p.Gly300Trp) n.676G>T | gnomAD v4 |