Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878086T>A | CA275775 | AGXT | c.1007T>A (p.Val336Asp) n.785T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878086T>C | CA351319581 | AGXT | c.1007T>C (p.Val336Ala) n.785T>C | dbSNP |
2 | g.240878086T>G | CA351319580 | AGXT | c.1007T>G (p.Val336Gly) n.785T>G | |
2 | g.240878086T= | CA1339335784 | AGXT | c.1007T= (p.Val336=) n.785T= | |
2 | g.240878087C>A | CA432026299 | AGXT | c.1008C>A (p.Val336=) n.786C>A | dbSNP |
2 | g.240878087C= | CA1339335785 | AGXT | c.1008C= (p.Val336=) n.786C= | |
2 | g.240878087C>G | CA432026301 | AGXT | c.1008C>G (p.Val336=) n.786C>G | |
2 | g.240878087C>T | CA432026297 | AGXT | c.1008C>T (p.Val336=) n.786C>T | |
2 | g.240878088A>C | CA351319584 | AGXT | c.1009A>C (p.Ser337Arg) n.787A>C | |
2 | g.240878088A>G | CA351319582 | AGXT | c.1009A>G (p.Ser337Gly) n.787A>G | |
2 | g.240878088A>T | CA351319583 | AGXT | c.1009A>T (p.Ser337Cys) n.787A>T | |
2 | g.240878089G>A | CA351319585 | AGXT | c.1010G>A (p.Ser337Asn) n.788G>A | |
2 | g.240878089G>C | CA351319586 | AGXT | c.1010G>C (p.Ser337Thr) n.788G>C | |
2 | g.240878089G>T | CA351319587 | AGXT | c.1010G>T (p.Ser337Ile) n.788G>T | |
2 | g.240878090C>A | CA351319588 | AGXT | c.1011C>A (p.Ser337Arg) n.789C>A | |
2 | g.240878090C>G | CA351319589 | AGXT | c.1011C>G (p.Ser337Arg) n.789C>G | |
2 | g.240878090C>T | CA432026311 | AGXT | c.1011C>T (p.Ser337=) n.789C>T | |
2 | g.240878091T>A | CA351319590 | AGXT | c.1012T>A (p.Tyr338Asn) n.790T>A | dbSNP |
2 | g.240878091T>C | CA351319591 | AGXT | c.1012T>C (p.Tyr338His) n.790T>C | |
2 | g.240878091T>G | CA351319592 | AGXT | c.1012T>G (p.Tyr338Asp) n.790T>G | |
2 | g.240878091T= | CA1339335786 | AGXT | c.1012T= (p.Tyr338=) n.790T= | |
2 | g.240878092A= | CA1339335787 | AGXT | c.1013A= (p.Tyr338=) n.791A= | |
2 | g.240878092A>C | CA351319593 | AGXT | c.1013A>C (p.Tyr338Ser) n.791A>C | |
2 | g.240878092A>G | CA351319594 | AGXT | c.1013A>G (p.Tyr338Cys) n.791A>G | |
2 | g.240878092A>T | CA2209374 | AGXT | c.1013A>T (p.Tyr338Phe) n.791A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878093C>A | CA351319595 | AGXT | c.1014C>A (p.Tyr338Ter) n.792C>A | ClinVar |
2 | g.240878093C= | CA1339335788 | AGXT | c.1014C= (p.Tyr338=) n.792C= | |
2 | g.240878093C>G | CA275776 | AGXT | c.1014C>G (p.Tyr338Ter) n.792C>G | ClinVar dbSNP |
2 | g.240878093C>T | CA2209375 | AGXT | c.1014C>T (p.Tyr338=) n.792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878094del | CA2586971646 | AGXT | c.1015del (p.Val339SerfsTer2) n.793del | |
2 | g.240878094G>A | CA2209376 | AGXT | c.1015G>A (p.Val339Ile) n.793G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878094G>C | CA351319596 | AGXT | c.1015G>C (p.Val339Leu) n.793G>C | |
2 | g.240878094G= | CA1339335789 | AGXT | c.1015G= (p.Val339=) n.793G= | |
2 | g.240878094G>T | CA351319597 | AGXT | c.1015G>T (p.Val339Phe) n.793G>T | |
2 | g.240878095T>A | CA351319598 | AGXT | c.1016T>A (p.Val339Asp) n.794T>A | |
2 | g.240878095T>C | CA351319599 | AGXT | c.1016T>C (p.Val339Ala) n.794T>C | gnomAD v4 |
2 | g.240878095T>G | CA351319600 | AGXT | c.1016T>G (p.Val339Gly) n.794T>G | |
2 | g.240878096C>A | CA432026326 | AGXT | c.1017C>A (p.Val339=) n.795C>A | |
2 | g.240878096C>G | CA432026328 | AGXT | c.1017C>G (p.Val339=) n.795C>G | |
2 | g.240878096C>T | CA432026329 | AGXT | c.1017C>T (p.Val339=) n.795C>T | gnomAD v4 |
2 | g.240878097A>C | CA351319601 | AGXT | c.1018A>C (p.Ile340Leu) n.796A>C | |
2 | g.240878097A>G | CA351319602 | AGXT | c.1018A>G (p.Ile340Val) n.796A>G | |
2 | g.240878097A>T | CA351319603 | AGXT | c.1018A>T (p.Ile340Leu) n.796A>T | |
2 | g.240878098T>A | CA351319604 | AGXT | c.1019T>A (p.Ile340Lys) n.797T>A | |
2 | g.240878098T>C | CA2209377 | AGXT | c.1019T>C (p.Ile340Thr) n.797T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878098T>G | CA351319605 | AGXT | c.1019T>G (p.Ile340Arg) n.797T>G | |
2 | g.240878098T= | CA1339335790 | AGXT | c.1019T= (p.Ile340=) n.797T= | |
2 | g.240878099A= | CA1339335791 | AGXT | c.1020A= (p.Ile340=) n.798A= | |
2 | g.240878099A>C | CA432026339 | AGXT | c.1020A>C (p.Ile340=) n.798A>C | |
2 | g.240878099A>G | CA343786 | AGXT | c.1020A>G (p.Ile340Met) n.798A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |