Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.10658467_10658469delinsCCT | CA2349888381 | JAG1 | c.693_694+1delinsAGG n.559_560+1delinsAGG | |
20 | g.10658470_10658471del | CA10577622 | JAG1 | c.693_694del (p.Arg231SerfsTer10) n.559_560del | ClinVar dbSNP |
20 | g.10658469T>A | CA408239884 | JAG1 | c.693A>T (p.Arg231Ser) n.559A>T | |
20 | g.10658469T>C | CA509816361 | JAG1 | c.693A>G (p.Arg231=) n.559A>G | |
20 | g.10658469T>G | CA408239883 | JAG1 | c.693A>C (p.Arg231Ser) n.559A>C | |
20 | g.10658470C>A | CA408239887 | JAG1 | c.692G>T (p.Arg231Ile) n.558G>T | |
20 | g.10658470C>G | CA408239885 | JAG1 | c.692G>C (p.Arg231Thr) n.558G>C | |
20 | g.10658470C>T | CA408239886 | JAG1 | c.692G>A (p.Arg231Lys) n.558G>A | |
20 | g.10658471T>A | CA408239888 | JAG1 | c.691A>T (p.Arg231Ter) n.557A>T | |
20 | g.10658471T>C | CA408239889 | JAG1 | c.691A>G (p.Arg231Gly) n.557A>G | |
20 | g.10658471T>G | CA509816362 | JAG1 | c.691A>C (p.Arg231=) n.557A>C | |
20 | g.10658472G>A | CA509816363 | JAG1 | c.690C>T (p.Asn230=) n.556C>T | |
20 | g.10658472G>C | CA408239890 | JAG1 | c.690C>G (p.Asn230Lys) n.556C>G | |
20 | g.10658472G>T | CA408239891 | JAG1 | c.690C>A (p.Asn230Lys) n.556C>A | |
20 | g.10658473T>A | CA408239892 | JAG1 | c.689A>T (p.Asn230Ile) n.555A>T | |
20 | g.10658473T>C | CA9765103 | JAG1 | c.689A>G (p.Asn230Ser) n.555A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.10658473T>G | CA408239893 | JAG1 | c.689A>C (p.Asn230Thr) n.555A>C | |
20 | g.10658473T= | CA2349888383 | JAG1 | c.689A= (p.Asn230=) n.555A= | |
20 | g.10658475_10658479dup | CA2695229551 | JAG1 | c.685_689dup (p.Arg231ValfsTer?) n.551_555dup | |
20 | g.10658474T>A | CA408239894 | JAG1 | c.688A>T (p.Asn230Tyr) n.554A>T | |
20 | g.10658474T>C | CA408239895 | JAG1 | c.688A>G (p.Asn230Asp) n.554A>G | |
20 | g.10658474T>G | CA408239896 | JAG1 | c.688A>C (p.Asn230His) n.554A>C | |
20 | g.10658475A>C | CA408239897 | JAG1 | c.687T>G (p.Cys229Trp) n.553T>G | |
20 | g.10658475A>G | CA509816366 | JAG1 | c.687T>C (p.Cys229=) n.553T>C | |
20 | g.10658475A>T | CA408239898 | JAG1 | c.687T>A (p.Cys229Ter) n.553T>A | |
20 | g.10658476C>A | CA408239899 | JAG1 | c.686G>T (p.Cys229Phe) n.552G>T | |
20 | g.10658476C>G | CA408239900 | JAG1 | c.686G>C (p.Cys229Ser) n.552G>C | |
20 | g.10658476C>T | CA408239901 | JAG1 | c.686G>A (p.Cys229Tyr) n.552G>A | |
20 | g.10658477A>C | CA408239902 | JAG1 | c.685T>G (p.Cys229Gly) n.551T>G | |
20 | g.10658477A>G | CA408239903 | JAG1 | c.685T>C (p.Cys229Arg) n.551T>C | |
20 | g.10658477A>T | CA408239904 | JAG1 | c.685T>A (p.Cys229Ser) n.551T>A | |
20 | g.10658478T>A | CA408239905 | JAG1 | c.684A>T (p.Glu228Asp) n.550A>T | |
20 | g.10658478T>C | CA509816367 | JAG1 | c.684A>G (p.Glu228=) n.550A>G | ClinVar dbSNP |
20 | g.10658478T>G | CA408239906 | JAG1 | c.684A>C (p.Glu228Asp) n.550A>C | |
20 | g.10658479T>A | CA408239907 | JAG1 | c.683A>T (p.Glu228Val) n.549A>T | |
20 | g.10658479T>C | CA408239908 | JAG1 | c.683A>G (p.Glu228Gly) n.549A>G | |
20 | g.10658479T>G | CA408239909 | JAG1 | c.683A>C (p.Glu228Ala) n.549A>C | |
20 | g.10658480C>A | CA408239911 | JAG1 | c.682G>T (p.Glu228Ter) n.548G>T | ClinVar dbSNP |
20 | g.10658480C= | CA2349888384 | JAG1 | c.682G= (p.Glu228=) n.548G= | |
20 | g.10658480C>G | CA408239912 | JAG1 | c.682G>C (p.Glu228Gln) n.548G>C | |
20 | g.10658480C>T | CA408239910 | JAG1 | c.682G>A (p.Glu228Lys) n.548G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.10658481G>A | CA9765104 | JAG1 | c.681C>T (p.Pro227=) n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10658481G>C | CA509816369 | JAG1 | c.681C>G (p.Pro227=) n.547C>G | |
20 | g.10658481G= | CA2349888385 | JAG1 | c.681C= (p.Pro227=) n.547C= | |
20 | g.10658481G>T | CA509816370 | JAG1 | c.681C>A (p.Pro227=) n.547C>A | |
20 | g.10658482G>A | CA408239913 | JAG1 | c.680C>T (p.Pro227Leu) n.546C>T | |
20 | g.10658482G>C | CA408239914 | JAG1 | c.680C>G (p.Pro227Arg) n.546C>G | |
20 | g.10658482G>T | CA408239915 | JAG1 | c.680C>A (p.Pro227His) n.546C>A | |
20 | g.10658483G>A | CA408239918 | JAG1 | c.679C>T (p.Pro227Ser) n.545C>T | dbSNP |
20 | g.10658483G>C | CA408239917 | JAG1 | c.679C>G (p.Pro227Ala) n.545C>G |