Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240875981_240875982dup | CA275854 | AGXT | c.823_824dup (p.Ser275ArgfsTer?) n.475_476dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875981_240875982del | CA540537272 | AGXT | c.823_824del (p.Ser275ProfsTer?) n.475_476del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875980G>A | CA432024608 | AGXT | c.822G>A (p.Glu274=) n.474G>A | |
2 | g.240875980G>C | CA275741 | AGXT | c.822G>C (p.Glu274Asp) n.474G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875980G= | CA1339334655 | AGXT | c.822G= (p.Glu274=) n.474G= | |
2 | g.240875980G>T | CA351318383 | AGXT | c.822G>T (p.Glu274Asp) n.474G>T | |
2 | g.240875981A= | CA1339334656 | AGXT | c.823A= (p.Ser275=) n.475A= | |
2 | g.240875981A>C | CA275743 | AGXT | c.823A>C (p.Ser275Arg) n.475A>C | ClinVar dbSNP |
2 | g.240875981A>G | CA351318385 | AGXT | c.823A>G (p.Ser275Gly) n.475A>G | |
2 | g.240875981A>T | CA351318384 | AGXT | c.823A>T (p.Ser275Cys) n.475A>T | |
2 | g.240875982G>A | CA351318386 | AGXT | c.824G>A (p.Ser275Asn) n.476G>A | ClinVar dbSNP |
2 | g.240875982G>C | CA351318387 | AGXT | c.824G>C (p.Ser275Thr) n.476G>C | |
2 | g.240875982G= | CA1339334657 | AGXT | c.824G= (p.Ser275=) n.476G= | |
2 | g.240875982G>T | CA2209271 | AGXT | c.824G>T (p.Ser275Ile) n.476G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875983C>A | CA351318388 | AGXT | c.825C>A (p.Ser275Arg) n.477C>A | COSMIC |
2 | g.240875983C>G | CA351318389 | AGXT | c.825C>G (p.Ser275Arg) n.477C>G | |
2 | g.240875983C>T | CA432024642 | AGXT | c.825C>T (p.Ser275=) n.477C>T | |
2 | g.240875984C>A | CA351318391 | AGXT | c.826C>A (p.Leu276Met) n.478C>A | |
2 | g.240875984C>G | CA351318390 | AGXT | c.826C>G (p.Leu276Val) n.478C>G | |
2 | g.240875984C>T | CA432024643 | AGXT | c.826C>T (p.Leu276=) n.478C>T | |
2 | g.240875984_240875985delinsGA | CA2695197717 | AGXT | c.826_827delinsGA (p.Leu276Glu) n.478_479delinsGA | |
2 | g.240875985T>A | CA351318392 | AGXT | c.827T>A (p.Leu276Gln) n.479T>A | gnomAD v4 |
2 | g.240875985T>C | CA351318393 | AGXT | c.827T>C (p.Leu276Pro) n.479T>C | |
2 | g.240875985T>G | CA351318394 | AGXT | c.827T>G (p.Leu276Arg) n.479T>G | |
2 | g.240875986G>A | CA432024649 | AGXT | c.828G>A (p.Leu276=) n.480G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240875986G>C | CA432024651 | AGXT | c.828G>C (p.Leu276=) n.480G>C | |
2 | g.240875986G= | CA1339334659 | AGXT | c.828G= (p.Leu276=) n.480G= | |
2 | g.240875986G>T | CA432024652 | AGXT | c.828G>T (p.Leu276=) n.480G>T | |
2 | g.240875986_240875988delinsGGC | CA1339334658 | AGXT | c.828_830delinsGGC (p.Leu276=) n.480_482delinsGGC | |
2 | g.240875987G>A | CA351318395 | AGXT | c.829G>A (p.Ala277Thr) n.481G>A | |
2 | g.240875987G>C | CA351318396 | AGXT | c.829G>C (p.Ala277Pro) n.481G>C | |
2 | g.240875987G= | CA1339334660 | AGXT | c.829G= (p.Ala277=) n.481G= | |
2 | g.240875987G>T | CA351318397 | AGXT | c.829G>T (p.Ala277Ser) n.481G>T | |
2 | g.240875987_240875988delinsA | CA68180080 | AGXT | c.829_830delinsA (p.Ala277ThrfsTer?) n.481_482delinsA | dbSNP |
2 | g.240875987_240875988insA | CA352237 | AGXT | c.829_830insA (p.Ala277AspfsTer?) n.481_482insA | dbSNP |
2 | g.240875988C>A | CA352238 | AGXT | c.830C>A (p.Ala277Asp) n.482C>A | dbSNP |
2 | g.240875988C= | CA1339334661 | AGXT | c.830C= (p.Ala277=) n.482C= | |
2 | g.240875988C>G | CA351318399 | AGXT | c.830C>G (p.Ala277Gly) n.482C>G | |
2 | g.240875988C>T | CA351318398 | AGXT | c.830C>T (p.Ala277Val) n.482C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875988delinsAA | CA2695197718 | AGXT | c.830delinsAA (p.Ala277GlufsTer?) n.482delinsAA | |
2 | g.240875990del | CA2499215816 | AGXT | c.832del (p.Leu278SerfsTer?) n.484del | ClinVar dbSNP |
2 | g.240875989C>A | CA432024667 | AGXT | c.831C>A (p.Ala277=) n.483C>A | |
2 | g.240875989C= | CA1339334662 | AGXT | c.831C= (p.Ala277=) n.483C= | |
2 | g.240875989C>G | CA432024670 | AGXT | c.831C>G (p.Ala277=) n.483C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875989C>T | CA432024671 | AGXT | c.831C>T (p.Ala277=) n.483C>T | |
2 | g.240875990C>A | CA351318400 | AGXT | c.832C>A (p.Leu278Ile) n.484C>A | |
2 | g.240875990C>G | CA351318401 | AGXT | c.832C>G (p.Leu278Val) n.484C>G | |
2 | g.240875990C>T | CA351318402 | AGXT | c.832C>T (p.Leu278Phe) n.484C>T | |
2 | g.240875991T>A | CA351318403 | AGXT | c.833T>A (p.Leu278His) n.485T>A | |
2 | g.240875991T>C | CA351318404 | AGXT | c.833T>C (p.Leu278Pro) n.485T>C |