Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47411348_47413406del | CA658760710 | MSH2 | c.645+976_792+846del c.447+976_594+846del n.717+976_864+846del n.707+976_854+846del | |
2 | g.47412395_47412429del | CA2580066579 | MSH2 | c.646-19_661del c.448-19_463del n.718-19_733del n.708-19_723del | ClinVar |
2 | g.47412411_47412447dup | CA2499215987 | MSH2 | c.646-3_679dup c.448-3_481dup n.718-3_751dup n.708-3_741dup | ClinVar dbSNP |
2 | g.47412408_47412495del | CA2580066592 | MSH2 | c.646-6_727del c.448-6_529del n.718-6_799del n.708-6_789del | ClinVar |
2 | g.47412413_47413046del | CA2499215988 | MSH2 | c.646-1_792+486del c.448-1_594+486del n.718-1_864+486del n.708-1_854+486del | ClinVar dbSNP |
2 | g.47412423_47412432delinsAGAGGAGGAA | CA2495832672 | MSH2 | c.655_664delinsAGAGGAGGAA (p.Arg219=) c.457_466delinsAGAGGAGGAA (p.Arg153=) n.727_736delinsAGAGGAGGAA n.717_726delinsAGAGGAGGAA | |
2 | g.47412424_47412432delinsATAGATAATTTCT | CA2695200756 | MSH2 | c.656_664delinsATAGATAATTTCT (p.Arg219AsnfsTer3) c.458_466delinsATAGATAATTTCT (p.Arg153AsnfsTer3) n.728_736delinsATAGATAATTTCT n.718_726delinsATAGATAATTTCT | ClinVar |
2 | g.47412427G>A | CA346731709 | MSH2 | c.659G>A (p.Gly220Glu) c.461G>A (p.Gly154Glu) n.731G>A n.721G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412427G>C | CA346731707 | MSH2 | c.659G>C (p.Gly220Ala) c.461G>C (p.Gly154Ala) n.731G>C n.721G>C | dbSNP |
2 | g.47412427G= | CA2495832676 | MSH2 | c.659G= (p.Gly220=) c.461G= (p.Gly154=) n.731G= n.721G= | |
2 | g.47412427G>T | CA346731705 | MSH2 | c.659G>T (p.Gly220Val) c.461G>T (p.Gly154Val) n.731G>T n.721G>T | dbSNP COSMIC |
2 | g.47412427_47412429delinsAAT | CA2580612944 | MSH2 | c.659_661delinsAAT (p.Gly220GlufsTer2) c.461_463delinsAAT (p.Gly154GlufsTer2) n.731_733delinsAAT n.721_723delinsAAT | ClinVar |
2 | g.47412428A= | CA2495832677 | MSH2 | c.660A= (p.Gly220=) c.462A= (p.Gly154=) n.732A= n.722A= | |
2 | g.47412428A>C | CA425967308 | MSH2 | c.660A>C (p.Gly220=) c.462A>C (p.Gly154=) n.732A>C n.722A>C | ClinVar |
2 | g.47412428A>G | CA425967311 | MSH2 | c.660A>G (p.Gly220=) c.462A>G (p.Gly154=) n.732A>G n.722A>G | |
2 | g.47412428A>T | CA425967307 | MSH2 | c.660A>T (p.Gly220=) c.462A>T (p.Gly154=) n.732A>T n.722A>T | ClinVar dbSNP |
2 | g.47412429G>A | CA346731712 | MSH2 | c.661G>A (p.Gly221Arg) c.463G>A (p.Gly155Arg) n.733G>A n.723G>A | ClinVar dbSNP |
2 | g.47412429G>C | CA346731713 | MSH2 | c.661G>C (p.Gly221Arg) c.463G>C (p.Gly155Arg) n.733G>C n.723G>C | ClinVar dbSNP COSMIC |
2 | g.47412429G= | CA2495832678 | MSH2 | c.661G= (p.Gly221=) c.463G= (p.Gly155=) n.733G= n.723G= | |
2 | g.47412429G>T | CA346731717 | MSH2 | c.661G>T (p.Gly221Ter) c.463G>T (p.Gly155Ter) n.733G>T n.723G>T | |
2 | g.47412430del | CA2573134698 | MSH2 | c.662del (p.Gly221GlufsTer3) c.464del (p.Gly155GlufsTer3) n.734del n.724del | dbSNP |
2 | g.47412430G>A | CA346731720 | MSH2 | c.662G>A (p.Gly221Glu) c.464G>A (p.Gly155Glu) n.734G>A n.724G>A | ClinVar dbSNP |
2 | g.47412430G>C | CA346731723 | MSH2 | c.662G>C (p.Gly221Ala) c.464G>C (p.Gly155Ala) n.734G>C n.724G>C | dbSNP |
2 | g.47412430G= | CA2495832679 | MSH2 | c.662G= (p.Gly221=) c.464G= (p.Gly155=) n.734G= n.724G= | |
2 | g.47412430G>T | CA346731725 | MSH2 | c.662G>T (p.Gly221Val) c.464G>T (p.Gly155Val) n.734G>T n.724G>T | COSMIC |
2 | g.47412431A= | CA2495832680 | MSH2 | c.663A= (p.Gly221=) c.465A= (p.Gly155=) n.735A= n.725A= | |
2 | g.47412431A>C | CA425967325 | MSH2 | c.663A>C (p.Gly221=) c.465A>C (p.Gly155=) n.735A>C n.725A>C | |
2 | g.47412431A>G | CA425967326 | MSH2 | c.663A>G (p.Gly221=) c.465A>G (p.Gly155=) n.735A>G n.725A>G | ClinVar dbSNP |
2 | g.47412431A>T | CA425967328 | MSH2 | c.663A>T (p.Gly221=) c.465A>T (p.Gly155=) n.735A>T n.725A>T | dbSNP |
2 | g.47412432del | CA425967331 | MSH2 | c.664del (p.Ile222PhefsTer2) c.466del (p.Ile156PhefsTer2) n.736del n.726del | COSMIC |
2 | g.47412432A= | CA2495832681 | MSH2 | c.664A= (p.Ile222=) c.466A= (p.Ile156=) n.736A= n.726A= | |
2 | g.47412432A>C | CA346731730 | MSH2 | c.664A>C (p.Ile222Leu) c.466A>C (p.Ile156Leu) n.736A>C n.726A>C | COSMIC |
2 | g.47412432A>G | CA346731733 | MSH2 | c.664A>G (p.Ile222Val) c.466A>G (p.Ile156Val) n.736A>G n.726A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412432A>T | CA039981 | MSH2 | c.664A>T (p.Ile222Phe) c.466A>T (p.Ile156Phe) n.736A>T n.726A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412433T>A | CA346731739 | MSH2 | c.665T>A (p.Ile222Asn) c.467T>A (p.Ile156Asn) n.737T>A n.727T>A | dbSNP |
2 | g.47412433T>C | CA16617559 | MSH2 | c.665T>C (p.Ile222Thr) c.467T>C (p.Ile156Thr) n.737T>C n.727T>C | ClinVar dbSNP |
2 | g.47412433T>G | CA346731744 | MSH2 | c.665T>G (p.Ile222Ser) c.467T>G (p.Ile156Ser) n.737T>G n.727T>G | |
2 | g.47412433T= | CA2495832682 | MSH2 | c.665T= (p.Ile222=) c.467T= (p.Ile156=) n.737T= n.727T= | |
2 | g.47412433_47412456dup | CA2580066622 | MSH2 | c.665_688dup (p.Lys229_Ala230insValLeuIleThrGluArgLysLys) c.467_490dup (p.Lys163_Ala164insValLeuIleThrGluArgLysLys) n.737_760dup n.727_750dup | ClinVar |
2 | g.47412434T>A | CA425967342 | MSH2 | c.666T>A (p.Ile222=) c.468T>A (p.Ile156=) n.738T>A n.728T>A | dbSNP |
2 | g.47412434T>C | CA425967344 | MSH2 | c.666T>C (p.Ile222=) c.468T>C (p.Ile156=) n.738T>C n.728T>C | |
2 | g.47412434T>G | CA346731747 | MSH2 | c.666T>G (p.Ile222Met) c.468T>G (p.Ile156Met) n.738T>G n.728T>G | |
2 | g.47412435C>A | CA346731751 | MSH2 | c.667C>A (p.Leu223Met) c.469C>A (p.Leu157Met) n.739C>A n.729C>A | |
2 | g.47412435C= | CA2495832683 | MSH2 | c.667C= (p.Leu223=) c.469C= (p.Leu157=) n.739C= n.729C= | |
2 | g.47412435C>G | CA346731750 | MSH2 | c.667C>G (p.Leu223Val) c.469C>G (p.Leu157Val) n.739C>G n.729C>G | ClinVar dbSNP |
2 | g.47412435C>T | CA425967354 | MSH2 | c.667C>T (p.Leu223=) c.469C>T (p.Leu157=) n.739C>T n.729C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412436T>A | CA346731754 | MSH2 | c.668T>A (p.Leu223Gln) c.470T>A (p.Leu157Gln) n.740T>A n.730T>A | |
2 | g.47412436T>C | CA16610792 | MSH2 | c.668T>C (p.Leu223Pro) c.470T>C (p.Leu157Pro) n.740T>C n.730T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412436T>G | CA346731759 | MSH2 | c.668T>G (p.Leu223Arg) c.470T>G (p.Leu157Arg) n.740T>G n.730T>G | |
2 | g.47412436T= | CA2495832684 | MSH2 | c.668T= (p.Leu223=) c.470T= (p.Leu157=) n.740T= n.730T= |