Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.240878099A>T | CA432026341 | AGXT | c.1020A>T (p.Ile340=) n.798A>T | |
2 | g.240878100G>A | CA351319608 | AGXT | c.1021G>A (p.Asp341Asn) n.799G>A | |
2 | g.240878100G>C | CA351319606 | AGXT | c.1021G>C (p.Asp341His) n.799G>C | |
2 | g.240878100G>T | CA351319607 | AGXT | c.1021G>T (p.Asp341Tyr) n.799G>T | |
2 | g.240878101A>C | CA351319609 | AGXT | c.1022A>C (p.Asp341Ala) n.800A>C | |
2 | g.240878101A>G | CA351319610 | AGXT | c.1022A>G (p.Asp341Gly) n.800A>G | |
2 | g.240878101A>T | CA351319611 | AGXT | c.1022A>T (p.Asp341Val) n.800A>T | gnomAD v4 |
2 | g.240878102C>A | CA2209378 | AGXT | c.1023C>A (p.Asp341Glu) n.801C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240878102C= | CA1339335792 | AGXT | c.1023C= (p.Asp341=) n.801C= | |
2 | g.240878102C>G | CA351319612 | AGXT | c.1023C>G (p.Asp341Glu) n.801C>G | gnomAD v4 |
2 | g.240878102C>T | CA432026351 | AGXT | c.1023C>T (p.Asp341=) n.801C>T | gnomAD v4 |
2 | g.240878103C>A | CA351319613 | AGXT | c.1024C>A (p.His342Asn) n.802C>A | |
2 | g.240878103C>G | CA351319614 | AGXT | c.1024C>G (p.His342Asp) n.802C>G | |
2 | g.240878103C>T | CA351319615 | AGXT | c.1024C>T (p.His342Tyr) n.802C>T | |
2 | g.240878104A>C | CA351319616 | AGXT | c.1025A>C (p.His342Pro) n.803A>C | |
2 | g.240878104A>G | CA351319617 | AGXT | c.1025A>G (p.His342Arg) n.803A>G | |
2 | g.240878104A>T | CA351319618 | AGXT | c.1025A>T (p.His342Leu) n.803A>T | |
2 | g.240878105C>A | CA351319620 | AGXT | c.1026C>A (p.His342Gln) n.804C>A | |
2 | g.240878105C>G | CA351319619 | AGXT | c.1026C>G (p.His342Gln) n.804C>G | |
2 | g.240878105C>T | CA432026362 | AGXT | c.1026C>T (p.His342=) n.804C>T | ClinVar dbSNP |
2 | g.240878106T>A | CA351319621 | AGXT | c.1027T>A (p.Phe343Ile) n.805T>A | gnomAD v4 |
2 | g.240878106T>C | CA351319622 | AGXT | c.1027T>C (p.Phe343Leu) n.805T>C | gnomAD v4 |
2 | g.240878106T>G | CA351319623 | AGXT | c.1027T>G (p.Phe343Val) n.805T>G | gnomAD v4 |
2 | g.240878107T>A | CA351319624 | AGXT | c.1028T>A (p.Phe343Tyr) n.806T>A | |
2 | g.240878107T>C | CA351319625 | AGXT | c.1028T>C (p.Phe343Ser) n.806T>C | |
2 | g.240878107T>G | CA351319626 | AGXT | c.1028T>G (p.Phe343Cys) n.806T>G | |
2 | g.240878107T= | CA1339335793 | AGXT | c.1028T= (p.Phe343=) n.806T= | |
2 | g.240878108C>A | CA351319627 | AGXT | c.1029C>A (p.Phe343Leu) n.807C>A | gnomAD v4 |
2 | g.240878108C= | CA1339335794 | AGXT | c.1029C= (p.Phe343=) n.807C= | |
2 | g.240878108C>G | CA351319628 | AGXT | c.1029C>G (p.Phe343Leu) n.807C>G | |
2 | g.240878108C>T | CA2209380 | AGXT | c.1029C>T (p.Phe343=) n.807C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878108dup | CA2209379 | AGXT | c.1029dup (p.Asp344ArgfsTer3) n.807dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878109G>A | CA2209381 | AGXT | c.1030G>A (p.Asp344Asn) n.808G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878109G>C | CA351319629 | AGXT | c.1030G>C (p.Asp344His) n.808G>C | |
2 | g.240878109G= | CA1339335795 | AGXT | c.1030G= (p.Asp344=) n.808G= | |
2 | g.240878109G>T | CA351319630 | AGXT | c.1030G>T (p.Asp344Tyr) n.808G>T | |
2 | g.240878110A>C | CA351319633 | AGXT | c.1031A>C (p.Asp344Ala) n.809A>C | |
2 | g.240878110A>G | CA351319632 | AGXT | c.1031A>G (p.Asp344Gly) n.809A>G | |
2 | g.240878110A>T | CA351319631 | AGXT | c.1031A>T (p.Asp344Val) n.809A>T | |
2 | g.240878111C>A | CA351319634 | AGXT | c.1032C>A (p.Asp344Glu) n.810C>A | |
2 | g.240878111C>G | CA351319635 | AGXT | c.1032C>G (p.Asp344Glu) n.810C>G | |
2 | g.240878111C>T | CA432026389 | AGXT | c.1032C>T (p.Asp344=) n.810C>T | |
2 | g.240878112A= | CA1339335796 | AGXT | c.1033A= (p.Ile345=) n.811A= | |
2 | g.240878112A>C | CA351319636 | AGXT | c.1033A>C (p.Ile345Leu) n.811A>C | |
2 | g.240878112A>G | CA68180864 | AGXT | c.1033A>G (p.Ile345Val) n.811A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878112A>T | CA2209382 | AGXT | c.1033A>T (p.Ile345Phe) n.811A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240878113T>A | CA351319637 | AGXT | c.1034T>A (p.Ile345Asn) n.812T>A |