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.47414377A= | CA2495834015 | MSH2 | c.901A= (p.Lys301=) c.703A= (p.Lys235=) n.973A= n.963A= | |
2 | g.47414377A>C | CA346732943 | MSH2 | c.901A>C (p.Lys301Gln) c.703A>C (p.Lys235Gln) n.973A>C n.963A>C | ClinVar |
2 | g.47414377A>G | CA346732944 | MSH2 | c.901A>G (p.Lys301Glu) c.703A>G (p.Lys235Glu) n.973A>G n.963A>G | |
2 | g.47414377A>T | CA022518 | MSH2 | c.901A>T (p.Lys301Ter) c.703A>T (p.Lys235Ter) n.973A>T n.963A>T | ClinVar dbSNP |
2 | g.47414378A>C | CA346732945 | MSH2 | c.902A>C (p.Lys301Thr) c.704A>C (p.Lys235Thr) n.974A>C n.964A>C | |
2 | g.47414378A>G | CA346732946 | MSH2 | c.902A>G (p.Lys301Arg) c.704A>G (p.Lys235Arg) n.974A>G n.964A>G | ClinVar |
2 | g.47414378A>T | CA346732947 | MSH2 | c.902A>T (p.Lys301Ile) c.704A>T (p.Lys235Ile) n.974A>T n.964A>T | dbSNP |
2 | g.47414379A>C | CA346732948 | MSH2 | c.903A>C (p.Lys301Asn) c.705A>C (p.Lys235Asn) n.975A>C n.965A>C | |
2 | g.47414379A>G | CA425970192 | MSH2 | c.903A>G (p.Lys301=) c.705A>G (p.Lys235=) n.975A>G n.965A>G | gnomAD v4 |
2 | g.47414379A>T | CA346732949 | MSH2 | c.903A>T (p.Lys301Asn) c.705A>T (p.Lys235Asn) n.975A>T n.965A>T | dbSNP |
2 | g.47414380T>A | CA346732951 | MSH2 | c.904T>A (p.Leu302Met) c.706T>A (p.Leu236Met) n.976T>A n.966T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414380T>C | CA10577959 | MSH2 | c.904T>C (p.Leu302=) c.706T>C (p.Leu236=) n.976T>C n.966T>C | ClinVar dbSNP |
2 | g.47414380T>G | CA346732950 | MSH2 | c.904T>G (p.Leu302Val) c.706T>G (p.Leu236Val) n.976T>G n.966T>G | |
2 | g.47414380T= | CA2495834016 | MSH2 | c.904T= (p.Leu302=) c.706T= (p.Leu236=) n.976T= n.966T= | |
2 | g.47414381T>A | CA022523 | MSH2 | c.905T>A (p.Leu302Ter) c.707T>A (p.Leu236Ter) n.977T>A n.967T>A | ClinVar dbSNP |
2 | g.47414381T>C | CA10577960 | MSH2 | c.905T>C (p.Leu302Ser) c.707T>C (p.Leu236Ser) n.977T>C n.967T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414381T>G | CA346732952 | MSH2 | c.905T>G (p.Leu302Trp) c.707T>G (p.Leu236Trp) n.977T>G n.967T>G | gnomAD v4 |
2 | g.47414381T= | CA2495834017 | MSH2 | c.905T= (p.Leu302=) c.707T= (p.Leu236=) n.977T= n.967T= | |
2 | g.47414382G>A | CA022528 | MSH2 | c.906G>A (p.Leu302=) c.708G>A (p.Leu236=) n.978G>A n.968G>A | ClinVar dbSNP |
2 | g.47414382G>C | CA346732953 | MSH2 | c.906G>C (p.Leu302Phe) c.708G>C (p.Leu236Phe) n.978G>C n.968G>C | ClinVar dbSNP |
2 | g.47414382G= | CA2495834018 | MSH2 | c.906G= (p.Leu302=) c.708G= (p.Leu236=) n.978G= n.968G= | |
2 | g.47414382G>T | CA346732954 | MSH2 | c.906G>T (p.Leu302Phe) c.708G>T (p.Leu236Phe) n.978G>T n.968G>T | |
2 | g.47414383G>A | CA16617568 | MSH2 | c.907G>A (p.Asp303Asn) c.709G>A (p.Asp237Asn) n.979G>A n.969G>A | ClinVar dbSNP |
2 | g.47414383G>C | CA346732955 | MSH2 | c.907G>C (p.Asp303His) c.709G>C (p.Asp237His) n.979G>C n.969G>C | ClinVar dbSNP |
2 | g.47414383G= | CA2495834019 | MSH2 | c.907G= (p.Asp303=) c.709G= (p.Asp237=) n.979G= n.969G= | |
2 | g.47414383G>T | CA346732956 | MSH2 | c.907G>T (p.Asp303Tyr) c.709G>T (p.Asp237Tyr) n.979G>T n.969G>T | dbSNP |
2 | g.47414384del | CA2580067061 | MSH2 | c.908del (p.Asp303ValfsTer28) c.710del (p.Asp237ValfsTer28) n.980del n.970del | ClinVar |
2 | g.47414384A>C | CA346732957 | MSH2 | c.908A>C (p.Asp303Ala) c.710A>C (p.Asp237Ala) n.980A>C n.970A>C | |
2 | g.47414384A>G | CA346732958 | MSH2 | c.908A>G (p.Asp303Gly) c.710A>G (p.Asp237Gly) n.980A>G n.970A>G | dbSNP gnomAD v4 |
2 | g.47414384A>T | CA346732959 | MSH2 | c.908A>T (p.Asp303Val) c.710A>T (p.Asp237Val) n.980A>T n.970A>T | ClinVar dbSNP |
2 | g.47414385T>A | CA346732960 | MSH2 | c.909T>A (p.Asp303Glu) c.711T>A (p.Asp237Glu) n.981T>A n.971T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414385T>C | CA425970222 | MSH2 | c.909T>C (p.Asp303=) c.711T>C (p.Asp237=) n.981T>C n.971T>C | ClinVar |
2 | g.47414385T>G | CA346732961 | MSH2 | c.909T>G (p.Asp303Glu) c.711T>G (p.Asp237Glu) n.981T>G n.971T>G | dbSNP |
2 | g.47414386A= | CA2495834020 | MSH2 | c.910A= (p.Ile304=) c.712A= (p.Ile238=) n.982A= n.972A= | |
2 | g.47414386A>C | CA346732964 | MSH2 | c.910A>C (p.Ile304Leu) c.712A>C (p.Ile238Leu) n.982A>C n.972A>C | dbSNP |
2 | g.47414386A>G | CA346732962 | MSH2 | c.910A>G (p.Ile304Val) c.712A>G (p.Ile238Val) n.982A>G n.972A>G | ClinVar dbSNP |
2 | g.47414386A>T | CA346732963 | MSH2 | c.910A>T (p.Ile304Phe) c.712A>T (p.Ile238Phe) n.982A>T n.972A>T | ClinVar dbSNP |
2 | g.47414387T>A | CA346732965 | MSH2 | c.911T>A (p.Ile304Asn) c.713T>A (p.Ile238Asn) n.983T>A n.973T>A | dbSNP |
2 | g.47414387T>C | CA46684227 | MSH2 | c.911T>C (p.Ile304Thr) c.713T>C (p.Ile238Thr) n.983T>C n.973T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414387T>G | CA346732966 | MSH2 | c.911T>G (p.Ile304Ser) c.713T>G (p.Ile238Ser) n.983T>G n.973T>G | |
2 | g.47414387T= | CA2495834021 | MSH2 | c.911T= (p.Ile304=) c.713T= (p.Ile238=) n.983T= n.973T= | |
2 | g.47414388dup | CA337334 | MSH2 | c.912dup (p.Ala305CysfsTer7) c.714dup (p.Ala239CysfsTer7) n.984dup n.974dup | ClinVar dbSNP |
2 | g.47414388T>A | CA425970243 | MSH2 | c.912T>A (p.Ile304=) c.714T>A (p.Ile238=) n.984T>A n.974T>A | |
2 | g.47414388T>C | CA022533 | MSH2 | c.912T>C (p.Ile304=) c.714T>C (p.Ile238=) n.984T>C n.974T>C | ClinVar dbSNP |
2 | g.47414388T>G | CA346732967 | MSH2 | c.912T>G (p.Ile304Met) c.714T>G (p.Ile238Met) n.984T>G n.974T>G |