Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47412570_47415848del | CA331682 | MSH2 | c.792+10_943-448del c.594+10_745-448del n.864+10_1015-448del n.854+10_1005-448del | ClinVar |
2 | g.47414262_47414868delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT | CA2495833736 | MSH2 | c.793-7_942+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT c.595-7_744+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT n.865-7_1014+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT n.855-7_1004+450delinsATTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT | |
2 | g.47414263_47414868del | CA331685 | MSH2 | c.793-6_942+450del c.595-6_744+450del n.865-6_1014+450del n.855-6_1004+450del | ClinVar dbSNP |
2 | g.47414267_47416282del | CA2499216016 | MSH2 | c.793-2_943-14del c.595-2_745-14del n.865-2_1015-14del n.855-2_1005-14del | ClinVar |
2 | g.47414318_47414507del | CA2580067008 | MSH2 | c.842_942+89del c.644_744+89del n.914_1014+89del n.904_1004+89del | ClinVar |
2 | g.47414330del | CA022433 | MSH2 | c.854del (p.Asn285ThrfsTer7) c.656del (p.Asn219ThrfsTer7) n.926del n.916del | ClinVar dbSNP |
2 | g.47414330A= | CA2495833971 | MSH2 | c.854A= (p.Asn285=) c.656A= (p.Asn219=) n.926A= n.916A= | |
2 | g.47414330A>C | CA346732844 | MSH2 | c.854A>C (p.Asn285Thr) c.656A>C (p.Asn219Thr) n.926A>C n.916A>C | ClinVar dbSNP |
2 | g.47414330A>G | CA16611014 | MSH2 | c.854A>G (p.Asn285Ser) c.656A>G (p.Asn219Ser) n.926A>G n.916A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414330A>T | CA346732845 | MSH2 | c.854A>T (p.Asn285Ile) c.656A>T (p.Asn219Ile) n.926A>T n.916A>T | dbSNP |
2 | g.47414331C>A | CA346732846 | MSH2 | c.855C>A (p.Asn285Lys) c.657C>A (p.Asn219Lys) n.927C>A n.917C>A | dbSNP |
2 | g.47414331C= | CA2495833974 | MSH2 | c.855C= (p.Asn285=) c.657C= (p.Asn219=) n.927C= n.917C= | |
2 | g.47414331C>G | CA10577957 | MSH2 | c.855C>G (p.Asn285Lys) c.657C>G (p.Asn219Lys) n.927C>G n.917C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414331C>T | CA040947 | MSH2 | c.855C>T (p.Asn285=) c.657C>T (p.Asn219=) n.927C>T n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414331_47414332delinsCT | CA2495833972 | MSH2 | c.855_856delinsCT (p.Asn285=) c.657_658delinsCT (p.Asn219=) n.927_928delinsCT n.917_918delinsCT | |
2 | g.47414331_47414340delinsCTTTGGACAG | CA2495833973 | MSH2 | c.855_864delinsCTTTGGACAG (p.Asn285=) c.657_666delinsCTTTGGACAG (p.Asn219=) n.927_936delinsCTTTGGACAG n.917_926delinsCTTTGGACAG | |
2 | g.47414332T>A | CA346732847 | MSH2 | c.856T>A (p.Phe286Ile) c.658T>A (p.Phe220Ile) n.928T>A n.918T>A | |
2 | g.47414332T>C | CA346732848 | MSH2 | c.856T>C (p.Phe286Leu) c.658T>C (p.Phe220Leu) n.928T>C n.918T>C | dbSNP |
2 | g.47414332T>G | CA346732849 | MSH2 | c.856T>G (p.Phe286Val) c.658T>G (p.Phe220Val) n.928T>G n.918T>G | |
2 | g.47414334del | CA658683223 | MSH2 | c.858del (p.Phe286LeufsTer6) c.660del (p.Phe220LeufsTer6) n.930del n.920del | ClinVar dbSNP |
2 | g.47414333_47414334del | CA2580067027 | MSH2 | c.857_858del (p.Phe286TrpfsTer4) c.659_660del (p.Phe220TrpfsTer4) n.929_930del n.919_920del | ClinVar |
2 | g.47414336_47414344del | CA349908 | MSH2 | c.860_868del (p.Gly287_Phe289del) c.662_670del (p.Gly221_Phe223del) n.932_940del n.922_930del | dbSNP |
2 | g.47414333T>A | CA346732850 | MSH2 | c.857T>A (p.Phe286Tyr) c.659T>A (p.Phe220Tyr) n.929T>A n.919T>A | dbSNP |
2 | g.47414333T>C | CA346732851 | MSH2 | c.857T>C (p.Phe286Ser) c.659T>C (p.Phe220Ser) n.929T>C n.919T>C | ClinVar dbSNP |
2 | g.47414333T>G | CA346732852 | MSH2 | c.857T>G (p.Phe286Cys) c.659T>G (p.Phe220Cys) n.929T>G n.919T>G | |
2 | g.47414333T= | CA2495833975 | MSH2 | c.857T= (p.Phe286=) c.659T= (p.Phe220=) n.929T= n.919T= | |
2 | g.47414334T>A | CA346732853 | MSH2 | c.858T>A (p.Phe286Leu) c.660T>A (p.Phe220Leu) n.930T>A n.920T>A | |
2 | g.47414334T>C | CA425969946 | MSH2 | c.858T>C (p.Phe286=) c.660T>C (p.Phe220=) n.930T>C n.920T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414334T>G | CA346732854 | MSH2 | c.858T>G (p.Phe286Leu) c.660T>G (p.Phe220Leu) n.930T>G n.920T>G | |
2 | g.47414334T= | CA2495833976 | MSH2 | c.858T= (p.Phe286=) c.660T= (p.Phe220=) n.930T= n.920T= | |
2 | g.47414335G>A | CA346732856 | MSH2 | c.859G>A (p.Gly287Arg) c.661G>A (p.Gly221Arg) n.931G>A n.921G>A | ClinVar dbSNP |
2 | g.47414335G>C | CA346732855 | MSH2 | c.859G>C (p.Gly287Arg) c.661G>C (p.Gly221Arg) n.931G>C n.921G>C | ClinVar dbSNP |
2 | g.47414335G= | CA2495833977 | MSH2 | c.859G= (p.Gly287=) c.661G= (p.Gly221=) n.931G= n.921G= | |
2 | g.47414335G>T | CA022437 | MSH2 | c.859G>T (p.Gly287Ter) c.661G>T (p.Gly221Ter) n.931G>T n.921G>T | ClinVar dbSNP |
2 | g.47414336dup | CA186235 | MSH2 | c.860dup (p.Gln288ThrfsTer3) c.662dup (p.Gln222ThrfsTer3) n.932dup n.922dup | ClinVar dbSNP |
2 | g.47414336G>A | CA346732857 | MSH2 | c.860G>A (p.Gly287Glu) c.662G>A (p.Gly221Glu) n.932G>A n.922G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414336G>C | CA022444 | MSH2 | c.860G>C (p.Gly287Ala) c.662G>C (p.Gly221Ala) n.932G>C n.922G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414336G= | CA2495833978 | MSH2 | c.860G= (p.Gly287=) c.662G= (p.Gly221=) n.932G= n.922G= | |
2 | g.47414336G>T | CA346732858 | MSH2 | c.860G>T (p.Gly287Val) c.662G>T (p.Gly221Val) n.932G>T n.922G>T | dbSNP gnomAD v4 |
2 | g.47414337A>C | CA425969965 | MSH2 | c.861A>C (p.Gly287=) c.663A>C (p.Gly221=) n.933A>C n.923A>C | dbSNP |
2 | g.47414337A>G | CA425969963 | MSH2 | c.861A>G (p.Gly287=) c.663A>G (p.Gly221=) n.933A>G n.923A>G | ClinVar gnomAD v4 |
2 | g.47414337A>T | CA425969962 | MSH2 | c.861A>T (p.Gly287=) c.663A>T (p.Gly221=) n.933A>T n.923A>T | dbSNP |
2 | g.47414338C>A | CA346732859 | MSH2 | c.862C>A (p.Gln288Lys) c.664C>A (p.Gln222Lys) n.934C>A n.924C>A | dbSNP |
2 | g.47414338C= | CA2495833979 | MSH2 | c.862C= (p.Gln288=) c.664C= (p.Gln222=) n.934C= n.924C= | |
2 | g.47414338C>G | CA346732860 | MSH2 | c.862C>G (p.Gln288Glu) c.664C>G (p.Gln222Glu) n.934C>G n.924C>G | ClinVar dbSNP |
2 | g.47414338C>T | CA022450 | MSH2 | c.862C>T (p.Gln288Ter) c.664C>T (p.Gln222Ter) n.934C>T n.924C>T | ClinVar dbSNP |
2 | g.47414338_47414339delinsCA | CA2495833980 | MSH2 | c.862_863delinsCA (p.Gln288=) c.664_665delinsCA (p.Gln222=) n.934_935delinsCA n.924_925delinsCA | |
2 | g.47414339del | CA022453 | MSH2 | c.863del (p.Gln288ArgfsTer4) c.665del (p.Gln222ArgfsTer4) n.935del n.925del | ClinVar dbSNP |
2 | g.47414339A= | CA2495833981 | MSH2 | c.863A= (p.Gln288=) c.665A= (p.Gln222=) n.935A= n.925A= | |
2 | g.47414339A>C | CA346732861 | MSH2 | c.863A>C (p.Gln288Pro) c.665A>C (p.Gln222Pro) n.935A>C n.925A>C |