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.47412410_47412423del | CA645369189 | MSH2 | c.646-4_655del c.448-4_457del n.718-4_727del n.708-4_717del | ClinVar dbSNP |
2 | g.47412409_47412423del | CA2695200755 | MSH2 | c.646-5_655del c.448-5_457del n.718-5_727del n.708-5_717del | ClinVar |
2 | g.47412408_47412420delinsAAATAGATAATTC | CA2495832656 | MSH2 | c.646-6_652delinsAAATAGATAATTC c.448-6_454delinsAAATAGATAATTC n.718-6_724delinsAAATAGATAATTC n.708-6_714delinsAAATAGATAATTC | |
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.47412411_47412422del | CA331656 | MSH2 | c.646-3_654del c.448-3_456del n.718-3_726del n.708-3_716del | ClinVar dbSNP |
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.47412416_47412418del | CA658683203 | MSH2 | c.648_650del (p.Ile217del) c.450_452del (p.Ile151del) n.720_722del n.710_712del | ClinVar dbSNP |
2 | g.47412415_47412420delinsTAATTC | CA2495832666 | MSH2 | c.647_652delinsTAATTC (p.Ile216=) c.449_454delinsTAATTC (p.Ile150=) n.719_724delinsTAATTC n.709_714delinsTAATTC | |
2 | g.47412418_47412422del | CA021704 | MSH2 | c.650_654del (p.Ile217LysfsTer13) c.452_456del (p.Ile151LysfsTer13) n.722_726del n.712_716del | ClinVar dbSNP |
2 | g.47412418T>A | CA346731642 | MSH2 | c.650T>A (p.Ile217Asn) c.452T>A (p.Ile151Asn) n.722T>A n.712T>A | dbSNP |
2 | g.47412418T>C | CA346731645 | MSH2 | c.650T>C (p.Ile217Thr) c.452T>C (p.Ile151Thr) n.722T>C n.712T>C | |
2 | g.47412418T>G | CA346731648 | MSH2 | c.650T>G (p.Ile217Ser) c.452T>G (p.Ile151Ser) n.722T>G n.712T>G | |
2 | g.47412419T>A | CA425967255 | MSH2 | c.651T>A (p.Ile217=) c.453T>A (p.Ile151=) n.723T>A n.713T>A | ClinVar dbSNP |
2 | g.47412419T>C | CA425967251 | MSH2 | c.651T>C (p.Ile217=) c.453T>C (p.Ile151=) n.723T>C n.713T>C | |
2 | g.47412419T>G | CA346731652 | MSH2 | c.651T>G (p.Ile217Met) c.453T>G (p.Ile151Met) n.723T>G n.713T>G | |
2 | g.47412420C>A | CA346731664 | MSH2 | c.652C>A (p.Gln218Lys) c.454C>A (p.Gln152Lys) n.724C>A n.714C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412420C= | CA2495832670 | MSH2 | c.652C= (p.Gln218=) c.454C= (p.Gln152=) n.724C= n.714C= | |
2 | g.47412420C>G | CA346731668 | MSH2 | c.652C>G (p.Gln218Glu) c.454C>G (p.Gln152Glu) n.724C>G n.714C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412420C>T | CA021710 | MSH2 | c.652C>T (p.Gln218Ter) c.454C>T (p.Gln152Ter) n.724C>T n.714C>T | ClinVar dbSNP |
2 | g.47412421A>C | CA346731677 | MSH2 | c.653A>C (p.Gln218Pro) c.455A>C (p.Gln152Pro) n.725A>C n.715A>C | |
2 | g.47412421A>G | CA346731675 | MSH2 | c.653A>G (p.Gln218Arg) c.455A>G (p.Gln152Arg) n.725A>G n.715A>G | dbSNP gnomAD v4 |
2 | g.47412421A>T | CA346731674 | MSH2 | c.653A>T (p.Gln218Leu) c.455A>T (p.Gln152Leu) n.725A>T n.715A>T | |
2 | g.47412423dup | CA891842933 | MSH2 | c.655dup (p.Arg219LysfsTer13) c.457dup (p.Arg153LysfsTer13) n.727dup n.717dup | ClinVar dbSNP |
2 | g.47412422A= | CA2495832671 | MSH2 | c.654A= (p.Gln218=) c.456A= (p.Gln152=) n.726A= n.716A= | |
2 | g.47412422A>C | CA346731681 | MSH2 | c.654A>C (p.Gln218His) c.456A>C (p.Gln152His) n.726A>C n.716A>C | |
2 | g.47412422A>G | CA46681145 | MSH2 | c.654A>G (p.Gln218=) c.456A>G (p.Gln152=) n.726A>G n.716A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412422A>T | CA346731684 | MSH2 | c.654A>T (p.Gln218His) c.456A>T (p.Gln152His) n.726A>T n.716A>T | |
2 | g.47412423A= | CA2495832673 | MSH2 | c.655A= (p.Arg219=) c.457A= (p.Arg153=) n.727A= n.717A= | |
2 | g.47412423A>C | CA425967282 | MSH2 | c.655A>C (p.Arg219=) c.457A>C (p.Arg153=) n.727A>C n.717A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412423A>G | CA346731685 | MSH2 | c.655A>G (p.Arg219Gly) c.457A>G (p.Arg153Gly) n.727A>G n.717A>G | gnomAD v4 |
2 | g.47412423A>T | CA346731686 | MSH2 | c.655A>T (p.Arg219Ter) c.457A>T (p.Arg153Ter) n.727A>T n.717A>T | ClinVar |
2 | g.47412425_47412426del | CA2580611300 | MSH2 | c.657_658del (p.Gly220ArgfsTer11) c.459_460del (p.Gly154ArgfsTer11) n.729_730del n.719_720del | ClinVar |
2 | g.47412423_47412432delinsAGAGGAGGAA | CA2495832672 | MSH2 | c.655_664delinsAGAGGAGGAA (p.Arg219=) c.457_466delinsAGAGGAGGAA (p.Arg153=) n.727_736delinsAGAGGAGGAA n.717_726delinsAGAGGAGGAA | |
2 | g.47412424G>A | CA346731687 | MSH2 | c.656G>A (p.Arg219Lys) c.458G>A (p.Arg153Lys) n.728G>A n.718G>A | dbSNP gnomAD v4 |
2 | g.47412424G>C | CA10581999 | MSH2 | c.656G>C (p.Arg219Thr) c.458G>C (p.Arg153Thr) n.728G>C n.718G>C | ClinVar dbSNP |
2 | g.47412424G= | CA2495832674 | MSH2 | c.656G= (p.Arg219=) c.458G= (p.Arg153=) n.728G= n.718G= | |
2 | g.47412424G>T | CA346731689 | MSH2 | c.656G>T (p.Arg219Ile) c.458G>T (p.Arg153Ile) n.728G>T n.718G>T | |
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.47412425del | CA2580066608 | MSH2 | c.657del (p.Gly220GlufsTer4) c.459del (p.Gly154GlufsTer4) n.729del n.719del | ClinVar |
2 | g.47412425A>C | CA346731690 | MSH2 | c.657A>C (p.Arg219Ser) c.459A>C (p.Arg153Ser) n.729A>C n.719A>C | |
2 | g.47412425A>G | CA425967289 | MSH2 | c.657A>G (p.Arg219=) c.459A>G (p.Arg153=) n.729A>G n.719A>G | ClinVar dbSNP |
2 | g.47412425A>T | CA346731693 | MSH2 | c.657A>T (p.Arg219Ser) c.459A>T (p.Arg153Ser) n.729A>T n.719A>T | |
2 | g.47412426G>A | CA346731695 | MSH2 | c.658G>A (p.Gly220Arg) c.460G>A (p.Gly154Arg) n.730G>A n.720G>A | dbSNP |
2 | g.47412426G>C | CA346731698 | MSH2 | c.658G>C (p.Gly220Arg) c.460G>C (p.Gly154Arg) n.730G>C n.720G>C | ClinVar dbSNP |
2 | g.47412426G= | CA2495832675 | MSH2 | c.658G= (p.Gly220=) c.460G= (p.Gly154=) n.730G= n.720G= | |
2 | g.47412426G>T | CA346731701 | MSH2 | c.658G>T (p.Gly220Ter) c.460G>T (p.Gly154Ter) n.730G>T n.720G>T | ClinVar COSMIC |
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 |