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.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.47412524_47412528delinsGATGA | CA2495832763 | MSH2 | c.756_760delinsGATGA (p.Gln252=) c.558_562delinsGATGA (p.Gln186=) n.828_832delinsGATGA n.818_822delinsGATGA | |
2 | g.47412527_47412530del | CA022190 | MSH2 | c.759_762del (p.Met253IlefsTer20) c.561_564del (p.Met187IlefsTer20) n.831_834del n.821_824del | ClinVar dbSNP |
2 | g.47412526_47412527delinsTG | CA2495832765 | MSH2 | c.758_759delinsTG (p.Met253=) c.560_561delinsTG (p.Met187=) n.830_831delinsTG n.820_821delinsTG | |
2 | g.47412527del | CA022195 | MSH2 | c.759del (p.Met253IlefsTer21) c.561del (p.Met187IlefsTer21) n.831del n.821del | ClinVar dbSNP |
2 | g.47412527G>A | CA16610795 | MSH2 | c.759G>A (p.Met253Ile) c.561G>A (p.Met187Ile) n.831G>A n.821G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412527G>C | CA346732367 | MSH2 | c.759G>C (p.Met253Ile) c.561G>C (p.Met187Ile) n.831G>C n.821G>C | ClinVar dbSNP |
2 | g.47412527G= | CA2495832767 | MSH2 | c.759G= (p.Met253=) c.561G= (p.Met187=) n.831G= n.821G= | |
2 | g.47412527G>T | CA346732369 | MSH2 | c.759G>T (p.Met253Ile) c.561G>T (p.Met187Ile) n.831G>T n.821G>T | dbSNP |
2 | g.47412527_47412528delinsGA | CA2495832766 | MSH2 | c.759_760delinsGA (p.Met253=) c.561_562delinsGA (p.Met187=) n.831_832delinsGA n.821_822delinsGA | |
2 | g.47412530_47412548del | CA2573051955 | MSH2 | c.762_780del (p.Asn254LysfsTer14) c.564_582del (p.Asn188LysfsTer14) n.834_852del n.824_842del | ClinVar dbSNP |
2 | g.47412528A>C | CA346732372 | MSH2 | c.760A>C (p.Asn254His) c.562A>C (p.Asn188His) n.832A>C n.822A>C | ClinVar |
2 | g.47412528A>G | CA346732373 | MSH2 | c.760A>G (p.Asn254Asp) c.562A>G (p.Asn188Asp) n.832A>G n.822A>G | ClinVar dbSNP |
2 | g.47412528A>T | CA346732376 | MSH2 | c.760A>T (p.Asn254Tyr) c.562A>T (p.Asn188Tyr) n.832A>T n.822A>T | dbSNP |
2 | g.47412529dup | CA2580066923 | MSH2 | c.761dup (p.Asn254LysfsTer2) c.563dup (p.Asn188LysfsTer2) n.833dup n.823dup | ClinVar |
2 | g.47412529del | CA022201 | MSH2 | c.761del (p.Asn254IlefsTer20) c.563del (p.Asn188IlefsTer20) n.833del n.823del | ClinVar dbSNP |
2 | g.47412529A= | CA2495832768 | MSH2 | c.761A= (p.Asn254=) c.563A= (p.Asn188=) n.833A= n.823A= | |
2 | g.47412529A>C | CA346732380 | MSH2 | c.761A>C (p.Asn254Thr) c.563A>C (p.Asn188Thr) n.833A>C n.823A>C | |
2 | g.47412529A>G | CA346732382 | MSH2 | c.761A>G (p.Asn254Ser) c.563A>G (p.Asn188Ser) n.833A>G n.823A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412529A>T | CA346732384 | MSH2 | c.761A>T (p.Asn254Ile) c.563A>T (p.Asn188Ile) n.833A>T n.823A>T | |
2 | g.47412530_47412531del | CA2695200777 | MSH2 | c.762_763del (p.Asn254LysfsTer29) c.564_565del (p.Asn188LysfsTer29) n.834_835del n.824_825del | ClinVar |
2 | g.47412530T>A | CA346732386 | MSH2 | c.762T>A (p.Asn254Lys) c.564T>A (p.Asn188Lys) n.834T>A n.824T>A | dbSNP |
2 | g.47412530T>C | CA022206 | MSH2 | c.762T>C (p.Asn254=) c.564T>C (p.Asn188=) n.834T>C n.824T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412530T>G | CA346732390 | MSH2 | c.762T>G (p.Asn254Lys) c.564T>G (p.Asn188Lys) n.834T>G n.824T>G | |
2 | g.47412530T= | CA2495832770 | MSH2 | c.762T= (p.Asn254=) c.564T= (p.Asn188=) n.834T= n.824T= | |
2 | g.47412530dup | CA2695200778 | MSH2 | c.762dup (p.Ser255Ter) c.564dup (p.Ser189Ter) n.834dup n.824dup | ClinVar |
2 | g.47412530_47412534delinsTAGTG | CA2495832769 | MSH2 | c.762_766delinsTAGTG (p.Asn254=) c.564_568delinsTAGTG (p.Asn188=) n.834_838delinsTAGTG n.824_828delinsTAGTG | |
2 | g.47412531del | CA2580066928 | MSH2 | c.763del (p.Ser255ValfsTer19) c.565del (p.Ser189ValfsTer19) n.835del n.825del | ClinVar |
2 | g.47412531A= | CA2495832771 | MSH2 | c.763A= (p.Ser255=) c.565A= (p.Ser189=) n.835A= n.825A= | |
2 | g.47412531A>C | CA346732397 | MSH2 | c.763A>C (p.Ser255Arg) c.565A>C (p.Ser189Arg) n.835A>C n.825A>C | ClinVar dbSNP gnomAD v2 |
2 | g.47412531A>G | CA040330 | MSH2 | c.763A>G (p.Ser255Gly) c.565A>G (p.Ser189Gly) n.835A>G n.825A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412531A>T | CA346732394 | MSH2 | c.763A>T (p.Ser255Cys) c.565A>T (p.Ser189Cys) n.835A>T n.825A>T | |
2 | g.47412531_47412534delinsTT | CA022212 | MSH2 | c.763_766delinsTT (p.Ser255PhefsTer28) c.565_568delinsTT (p.Ser189PhefsTer28) n.835_838delinsTT n.825_828delinsTT | ClinVar dbSNP |
2 | g.47412532G>A | CA040340 | MSH2 | c.764G>A (p.Ser255Asn) c.566G>A (p.Ser189Asn) n.836G>A n.826G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412532G>C | CA46681579 | MSH2 | c.764G>C (p.Ser255Thr) c.566G>C (p.Ser189Thr) n.836G>C n.826G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412532G= | CA2495832772 | MSH2 | c.764G= (p.Ser255=) c.566G= (p.Ser189=) n.836G= n.826G= | |
2 | g.47412532G>T | CA346732401 | MSH2 | c.764G>T (p.Ser255Ile) c.566G>T (p.Ser189Ile) n.836G>T n.826G>T | |
2 | g.47412532_47412544del | CA2580066930 | MSH2 | c.764_776del (p.Ser255LysfsTer15) c.566_578del (p.Ser189LysfsTer15) n.836_848del n.826_838del | ClinVar |
2 | g.47412533T>A | CA346732404 | MSH2 | c.765T>A (p.Ser255Arg) c.567T>A (p.Ser189Arg) n.837T>A n.827T>A | dbSNP |
2 | g.47412533T>C | CA46681580 | MSH2 | c.765T>C (p.Ser255=) c.567T>C (p.Ser189=) n.837T>C n.827T>C | ClinVar dbSNP |
2 | g.47412533T>G | CA346732405 | MSH2 | c.765T>G (p.Ser255Arg) c.567T>G (p.Ser189Arg) n.837T>G n.827T>G | |
2 | g.47412533T= | CA2495832773 | MSH2 | c.765T= (p.Ser255=) c.567T= (p.Ser189=) n.837T= n.827T= | |
2 | g.47412533dup | CA2580066931 | MSH2 | c.765dup (p.Ala256CysfsTer28) c.567dup (p.Ala190CysfsTer28) n.837dup n.827dup | ClinVar |
2 | g.47412534G>A | CA022219 | MSH2 | c.766G>A (p.Ala256Thr) c.568G>A (p.Ala190Thr) n.838G>A n.828G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412534G>C | CA346732409 | MSH2 | c.766G>C (p.Ala256Pro) c.568G>C (p.Ala190Pro) n.838G>C n.828G>C | dbSNP |
2 | g.47412534G= | CA2495832774 | MSH2 | c.766G= (p.Ala256=) c.568G= (p.Ala190=) n.838G= n.828G= | |
2 | g.47412534G>T | CA346732411 | MSH2 | c.766G>T (p.Ala256Ser) c.568G>T (p.Ala190Ser) n.838G>T n.828G>T | dbSNP |
2 | g.47412535C>A | CA346732413 | MSH2 | c.767C>A (p.Ala256Asp) c.569C>A (p.Ala190Asp) n.839C>A n.829C>A | |
2 | g.47412535C= | CA2495832775 | MSH2 | c.767C= (p.Ala256=) c.569C= (p.Ala190=) n.839C= n.829C= |