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.47414222G>A | CA2658946463 | MSH2 | c.793-47G>A (n.793-47G>A) c.595-47G>A (n.595-47G>A) n.865-47G>A n.855-47G>A | dbSNP gnomAD v4 |
2 | g.47414222G>C | CA532705008 | MSH2 | c.793-47G>C (n.793-47G>C) c.595-47G>C (n.595-47G>C) n.865-47G>C n.855-47G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414222G= | CA2495833659 | MSH2 | c.793-47G= (n.793-47G=) c.595-47G= (n.595-47G=) n.865-47G= n.855-47G= | |
2 | g.47414222G>T | CA2699116509 | MSH2 | c.793-47G>T (n.793-47G>T) c.595-47G>T (n.595-47G>T) n.865-47G>T n.855-47G>T | dbSNP |
2 | g.47414223del | CA2699274094 | MSH2 | c.793-46del (n.793-46del) c.595-46del (n.595-46del) n.865-46del n.855-46del | dbSNP |
2 | g.47414223G>A | CA2699080529 | MSH2 | c.793-46G>A (n.793-46G>A) c.595-46G>A (n.595-46G>A) n.865-46G>A n.855-46G>A | dbSNP |
2 | g.47414223G>C | CA2658946464 | MSH2 | c.793-46G>C (n.793-46G>C) c.595-46G>C (n.595-46G>C) n.865-46G>C n.855-46G>C | dbSNP gnomAD v4 |
2 | g.47414223G= | CA2495833661 | MSH2 | c.793-46G= (n.793-46G=) c.595-46G= (n.595-46G=) n.865-46G= n.855-46G= | |
2 | g.47414223G>T | CA040647 | MSH2 | c.793-46G>T (n.793-46G>T) c.595-46G>T (n.595-46G>T) n.865-46G>T n.855-46G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414224del | CA2658946465 | MSH2 | c.793-45del (n.793-45del) c.595-45del (n.595-45del) n.865-45del n.855-45del | gnomAD v4 |
2 | g.47414224A= | CA2495833663 | MSH2 | c.793-45A= (n.793-45A=) c.595-45A= (n.595-45A=) n.865-45A= n.855-45A= | |
2 | g.47414224A>G | CA040638 | MSH2 | c.793-45A>G (n.793-45A>G) c.595-45A>G (n.595-45A>G) n.865-45A>G n.855-45A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414225T>A | CA2658946466 | MSH2 | c.793-44T>A (n.793-44T>A) c.595-44T>A (n.595-44T>A) n.865-44T>A n.855-44T>A | dbSNP gnomAD v4 |
2 | g.47414225T>C | CA2658946467 | MSH2 | c.793-44T>C (n.793-44T>C) c.595-44T>C (n.595-44T>C) n.865-44T>C n.855-44T>C | dbSNP gnomAD v4 |
2 | g.47414226C>A | CA2576960860 | MSH2 | c.793-43C>A (n.793-43C>A) c.595-43C>A (n.595-43C>A) n.865-43C>A n.855-43C>A | dbSNP gnomAD v4 |
2 | g.47414226C>G | CA2658946468 | MSH2 | c.793-43C>G (n.793-43C>G) c.595-43C>G (n.595-43C>G) n.865-43C>G n.855-43C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414226C>T | CA2699274134 | MSH2 | c.793-43C>T (n.793-43C>T) c.595-43C>T (n.595-43C>T) n.865-43C>T n.855-43C>T | dbSNP |
2 | g.47414227C>A | CA2658946469 | MSH2 | c.793-42C>A (n.793-42C>A) c.595-42C>A (n.595-42C>A) n.865-42C>A n.855-42C>A | dbSNP gnomAD v4 |
2 | g.47414227C>T | CA2699274525 | MSH2 | c.793-42C>T (n.793-42C>T) c.595-42C>T (n.595-42C>T) n.865-42C>T n.855-42C>T | dbSNP |
2 | g.47414228A>T | CA2699274535 | MSH2 | c.793-41A>T (n.793-41A>T) c.595-41A>T (n.595-41A>T) n.865-41A>T n.855-41A>T | dbSNP |
2 | g.47414229G>A | CA2658946470 | MSH2 | c.793-40G>A (n.793-40G>A) c.595-40G>A (n.595-40G>A) n.865-40G>A n.855-40G>A | dbSNP gnomAD v4 |
2 | g.47414229G>C | CA2699118512 | MSH2 | c.793-40G>C (n.793-40G>C) c.595-40G>C (n.595-40G>C) n.865-40G>C n.855-40G>C | dbSNP |
2 | g.47414229G= | CA2495833668 | MSH2 | c.793-40G= (n.793-40G=) c.595-40G= (n.595-40G=) n.865-40G= n.855-40G= | |
2 | g.47414229G>T | CA532705009 | MSH2 | c.793-40G>T (n.793-40G>T) c.595-40G>T (n.595-40G>T) n.865-40G>T n.855-40G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414230T>A | CA2658946471 | MSH2 | c.793-39T>A (n.793-39T>A) c.595-39T>A (n.595-39T>A) n.865-39T>A n.855-39T>A | gnomAD v4 |
2 | g.47414230T>G | CA2576960861 | MSH2 | c.793-39T>G (n.793-39T>G) c.595-39T>G (n.595-39T>G) n.865-39T>G n.855-39T>G | |
2 | g.47414231G>A | CA2658946473 | MSH2 | c.793-38G>A (n.793-38G>A) c.595-38G>A (n.595-38G>A) n.865-38G>A n.855-38G>A | dbSNP gnomAD v4 |
2 | g.47414231G>C | CA2699098907 | MSH2 | c.793-38G>C (n.793-38G>C) c.595-38G>C (n.595-38G>C) n.865-38G>C n.855-38G>C | dbSNP |
2 | g.47414231G= | CA2495833672 | MSH2 | c.793-38G= (n.793-38G=) c.595-38G= (n.595-38G=) n.865-38G= n.855-38G= | |
2 | g.47414231G>T | CA532705010 | MSH2 | c.793-38G>T (n.793-38G>T) c.595-38G>T (n.595-38G>T) n.865-38G>T n.855-38G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414232del | CA2658946472 | MSH2 | c.793-37del (n.793-37del) c.595-37del (n.595-37del) n.865-37del n.855-37del | gnomAD v4 |
2 | g.47414232G>A | CA2699274581 | MSH2 | c.793-37G>A (n.793-37G>A) c.595-37G>A (n.595-37G>A) n.865-37G>A n.855-37G>A | dbSNP |
2 | g.47414232G>C | CA2699274648 | MSH2 | c.793-37G>C (n.793-37G>C) c.595-37G>C (n.595-37G>C) n.865-37G>C n.855-37G>C | dbSNP |
2 | g.47414232G>T | CA2658946474 | MSH2 | c.793-37G>T (n.793-37G>T) c.595-37G>T (n.595-37G>T) n.865-37G>T n.855-37G>T | dbSNP gnomAD v4 |
2 | g.47414233T>A | CA2699274682 | MSH2 | c.793-36T>A (n.793-36T>A) c.595-36T>A (n.595-36T>A) n.865-36T>A n.855-36T>A | dbSNP |
2 | g.47414233T>G | CA2658946475 | MSH2 | c.793-36T>G (n.793-36T>G) c.595-36T>G (n.595-36T>G) n.865-36T>G n.855-36T>G | dbSNP gnomAD v4 |
2 | g.47414234A= | CA2495833679 | MSH2 | c.793-35A= (n.793-35A=) c.595-35A= (n.595-35A=) n.865-35A= n.855-35A= | |
2 | g.47414234A>G | CA040626 | MSH2 | c.793-35A>G (n.793-35A>G) c.595-35A>G (n.595-35A>G) n.865-35A>G n.855-35A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414234A>T | CA2699082422 | MSH2 | c.793-35A>T (n.793-35A>T) c.595-35A>T (n.595-35A>T) n.865-35A>T n.855-35A>T | dbSNP |
2 | g.47414235T>C | CA2495833682 | MSH2 | c.793-34T>C (n.793-34T>C) c.595-34T>C (n.595-34T>C) n.865-34T>C n.855-34T>C | dbSNP |
2 | g.47414235T= | CA2495833681 | MSH2 | c.793-34T= (n.793-34T=) c.595-34T= (n.595-34T=) n.865-34T= n.855-34T= | |
2 | g.47414236A= | CA2495833684 | MSH2 | c.793-33A= (n.793-33A=) c.595-33A= (n.595-33A=) n.865-33A= n.855-33A= | |
2 | g.47414236A>G | CA040611 | MSH2 | c.793-33A>G (n.793-33A>G) c.595-33A>G (n.595-33A>G) n.865-33A>G n.855-33A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414236A>T | CA2699081452 | MSH2 | c.793-33A>T (n.793-33A>T) c.595-33A>T (n.595-33A>T) n.865-33A>T n.855-33A>T | dbSNP |
2 | g.47414237G>A | CA647033936 | MSH2 | c.793-32G>A (n.793-32G>A) c.595-32G>A (n.595-32G>A) n.865-32G>A n.855-32G>A | dbSNP COSMIC |
2 | g.47414237G>C | CA2699274685 | MSH2 | c.793-32G>C (n.793-32G>C) c.595-32G>C (n.595-32G>C) n.865-32G>C n.855-32G>C | dbSNP |
2 | g.47414238A= | CA2495833686 | MSH2 | c.793-31A= (n.793-31A=) c.595-31A= (n.595-31A=) n.865-31A= n.855-31A= | |
2 | g.47414238A>C | CA040597 | MSH2 | c.793-31A>C (n.793-31A>C) c.595-31A>C (n.595-31A>C) n.865-31A>C n.855-31A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414238A>T | CA2699081926 | MSH2 | c.793-31A>T (n.793-31A>T) c.595-31A>T (n.595-31A>T) n.865-31A>T n.855-31A>T | dbSNP |
2 | g.47414239A= | CA2495833689 | MSH2 | c.793-30A= (n.793-30A=) c.595-30A= (n.595-30A=) n.865-30A= n.855-30A= | |
2 | g.47414239A>G | CA022309 | MSH2 | c.793-30A>G (n.793-30A>G) c.595-30A>G (n.595-30A>G) n.865-30A>G n.855-30A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414240A= | CA2495833693 | MSH2 | c.793-29A= (n.793-29A=) c.595-29A= (n.595-29A=) n.865-29A= n.855-29A= | |
2 | g.47414240A>C | CA2658946476 | MSH2 | c.793-29A>C (n.793-29A>C) c.595-29A>C (n.595-29A>C) n.865-29A>C n.855-29A>C | gnomAD v4 |
2 | g.47414240A>G | CA040586 | MSH2 | c.793-29A>G (n.793-29A>G) c.595-29A>G (n.595-29A>G) n.865-29A>G n.855-29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414240A>T | CA022300 | MSH2 | c.793-29A>T (n.793-29A>T) c.595-29A>T (n.595-29A>T) n.865-29A>T n.855-29A>T | dbSNP |
2 | g.47414241T>A | CA2699274706 | MSH2 | c.793-28T>A (n.793-28T>A) c.595-28T>A (n.595-28T>A) n.865-28T>A n.855-28T>A | dbSNP |
2 | g.47414242C>A | CA2699074146 | MSH2 | c.793-27C>A (n.793-27C>A) c.595-27C>A (n.595-27C>A) n.865-27C>A n.855-27C>A | dbSNP |
2 | g.47414242C= | CA2495833697 | MSH2 | c.793-27C= (n.793-27C=) c.595-27C= (n.595-27C=) n.865-27C= n.855-27C= | |
2 | g.47414242C>G | CA2699074147 | MSH2 | c.793-27C>G (n.793-27C>G) c.595-27C>G (n.595-27C>G) n.865-27C>G n.855-27C>G | dbSNP |
2 | g.47414242C>T | CA46683728 | MSH2 | c.793-27C>T (n.793-27C>T) c.595-27C>T (n.595-27C>T) n.865-27C>T n.855-27C>T | dbSNP |
2 | g.47414243T>A | CA2699274708 | MSH2 | c.793-26T>A (n.793-26T>A) c.595-26T>A (n.595-26T>A) n.865-26T>A n.855-26T>A | dbSNP |
2 | g.47414244T>A | CA2699274712 | MSH2 | c.793-25T>A (n.793-25T>A) c.595-25T>A (n.595-25T>A) n.865-25T>A n.855-25T>A | dbSNP |
2 | g.47414244T>C | CA2699274710 | MSH2 | c.793-25T>C (n.793-25T>C) c.595-25T>C (n.595-25T>C) n.865-25T>C n.855-25T>C | dbSNP |
2 | g.47414245C>A | CA46683735 | MSH2 | c.793-24C>A (n.793-24C>A) c.595-24C>A (n.595-24C>A) n.865-24C>A n.855-24C>A | dbSNP |
2 | g.47414245C= | CA2495833699 | MSH2 | c.793-24C= (n.793-24C=) c.595-24C= (n.595-24C=) n.865-24C= n.855-24C= | |
2 | g.47414245C>G | CA2699081456 | MSH2 | c.793-24C>G (n.793-24C>G) c.595-24C>G (n.595-24C>G) n.865-24C>G n.855-24C>G | dbSNP |
2 | g.47414245C>T | CA040574 | MSH2 | c.793-24C>T (n.793-24C>T) c.595-24C>T (n.595-24C>T) n.865-24C>T n.855-24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414246G>A | CA040538 | MSH2 | c.793-23G>A (n.793-23G>A) c.595-23G>A (n.595-23G>A) n.865-23G>A n.855-23G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414246G>C | CA2495833704 | MSH2 | c.793-23G>C (n.793-23G>C) c.595-23G>C (n.595-23G>C) n.865-23G>C n.855-23G>C | dbSNP gnomAD v4 |
2 | g.47414246G= | CA2495833705 | MSH2 | c.793-23G= (n.793-23G=) c.595-23G= (n.595-23G=) n.865-23G= n.855-23G= | |
2 | g.47414246G>T | CA040556 | MSH2 | c.793-23G>T (n.793-23G>T) c.595-23G>T (n.595-23G>T) n.865-23G>T n.855-23G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414247A= | CA2495833710 | MSH2 | c.793-22A= (n.793-22A=) c.595-22A= (n.595-22A=) n.865-22A= n.855-22A= | |
2 | g.47414247A>T | CA769455474 | MSH2 | c.793-22A>T (n.793-22A>T) c.595-22A>T (n.595-22A>T) n.865-22A>T n.855-22A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414248T>A | CA2699274810 | MSH2 | c.793-21T>A (n.793-21T>A) c.595-21T>A (n.595-21T>A) n.865-21T>A n.855-21T>A | dbSNP |
2 | g.47414249T>C | CA2699274847 | MSH2 | c.793-20T>C (n.793-20T>C) c.595-20T>C (n.595-20T>C) n.865-20T>C n.855-20T>C | dbSNP |
2 | g.47414250T>C | CA040522 | MSH2 | c.793-19T>C (n.793-19T>C) c.595-19T>C (n.595-19T>C) n.865-19T>C n.855-19T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414250T= | CA2495833713 | MSH2 | c.793-19T= (n.793-19T=) c.595-19T= (n.595-19T=) n.865-19T= n.855-19T= | |
2 | g.47414251T>C | CA2699274864 | MSH2 | c.793-18T>C (n.793-18T>C) c.595-18T>C (n.595-18T>C) n.865-18T>C n.855-18T>C | dbSNP |
2 | g.47414253A= | CA2495833715 | MSH2 | c.793-16A= (n.793-16A=) c.595-16A= (n.595-16A=) n.865-16A= n.855-16A= | |
2 | g.47414253A>T | CA532705011 | MSH2 | c.793-16A>T (n.793-16A>T) c.595-16A>T (n.595-16A>T) n.865-16A>T n.855-16A>T | dbSNP gnomAD v2 |
2 | g.47414254A>T | CA2699274993 | MSH2 | c.793-15A>T (n.793-15A>T) c.595-15A>T (n.595-15A>T) n.865-15A>T n.855-15A>T | dbSNP |
2 | g.47414254_47414258del | CA2658946477 | MSH2 | c.793-15_793-11del (n.793-15_793-11del) c.595-15_595-11del (n.595-15_595-11del) n.865-15_865-11del n.855-15_855-11del | gnomAD v4 |
2 | g.47414255A= | CA2495833717 | MSH2 | c.793-14A= (n.793-14A=) c.595-14A= (n.595-14A=) n.865-14A= n.855-14A= | |
2 | g.47414255A>G | CA2699120643 | MSH2 | c.793-14A>G (n.793-14A>G) c.595-14A>G (n.595-14A>G) n.865-14A>G n.855-14A>G | dbSNP |
2 | g.47414255A>T | CA658683220 | MSH2 | c.793-14A>T (n.793-14A>T) c.595-14A>T (n.595-14A>T) n.865-14A>T n.855-14A>T | ClinVar dbSNP |
2 | g.47414256T>A | CA2699274995 | MSH2 | c.793-13T>A (n.793-13T>A) c.595-13T>A (n.595-13T>A) n.865-13T>A n.855-13T>A | dbSNP |
2 | g.47414258C>A | CA2658946478 | MSH2 | c.793-11C>A (n.793-11C>A) c.595-11C>A (n.595-11C>A) n.865-11C>A n.855-11C>A | gnomAD v4 |
2 | g.47414258C= | CA2495833720 | MSH2 | c.793-11C= (n.793-11C=) c.595-11C= (n.595-11C=) n.865-11C= n.855-11C= | |
2 | g.47414258C>G | CA2697548095 | MSH2 | c.793-11C>G (n.793-11C>G) c.595-11C>G (n.595-11C>G) n.865-11C>G n.855-11C>G | ClinVar dbSNP |
2 | g.47414258C>T | CA46683758 | MSH2 | c.793-11C>T (n.793-11C>T) c.595-11C>T (n.595-11C>T) n.865-11C>T n.855-11C>T | dbSNP gnomAD v4 |
2 | g.47414259T>C | CA2499216015 | MSH2 | c.793-10T>C (n.793-10T>C) c.595-10T>C (n.595-10T>C) n.865-10T>C n.855-10T>C | ClinVar dbSNP |
2 | g.47414259T>G | CA16610848 | MSH2 | c.793-10T>G (n.793-10T>G) c.595-10T>G (n.595-10T>G) n.865-10T>G n.855-10T>G | ClinVar dbSNP |
2 | g.47414259T= | CA2495833722 | MSH2 | c.793-10T= (n.793-10T=) c.595-10T= (n.595-10T=) n.865-10T= n.855-10T= | |
2 | g.47414260T>C | CA915943889 | MSH2 | c.793-9T>C (n.793-9T>C) c.595-9T>C (n.595-9T>C) n.865-9T>C n.855-9T>C | ClinVar dbSNP |
2 | g.47414260T= | CA2495833728 | MSH2 | c.793-9T= (n.793-9T=) c.595-9T= (n.595-9T=) n.865-9T= n.855-9T= | |
2 | g.47414261A= | CA2495833731 | MSH2 | c.793-8A= (n.793-8A=) c.595-8A= (n.595-8A=) n.865-8A= n.855-8A= | |
2 | g.47414261A>C | CA1139656927 | MSH2 | c.793-8A>C (n.793-8A>C) c.595-8A>C (n.595-8A>C) n.865-8A>C n.855-8A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414261A>G | CA2658946479 | MSH2 | c.793-8A>G (n.793-8A>G) c.595-8A>G (n.595-8A>G) n.865-8A>G n.855-8A>G | gnomAD v4 |
2 | g.47414261A>T | CA2699139486 | MSH2 | c.793-8A>T (n.793-8A>T) c.595-8A>T (n.595-8A>T) n.865-8A>T n.855-8A>T | dbSNP |
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.47414263T>A | CA2699275104 | MSH2 | c.793-6T>A (n.793-6T>A) c.595-6T>A (n.595-6T>A) n.865-6T>A n.855-6T>A | dbSNP |
2 | g.47414263T>C | CA2697548096 | MSH2 | c.793-6T>C (n.793-6T>C) c.595-6T>C (n.595-6T>C) n.865-6T>C n.855-6T>C | ClinVar dbSNP |
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.47414264T>C | CA2699275123 | MSH2 | c.793-5T>C (n.793-5T>C) c.595-5T>C (n.595-5T>C) n.865-5T>C n.855-5T>C | dbSNP |
2 | g.47414265T>C | CA2699275126 | MSH2 | c.793-4T>C (n.793-4T>C) c.595-4T>C (n.595-4T>C) n.865-4T>C n.855-4T>C | 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.47414266T>C | CA913187991 | MSH2 | c.793-3T>C (n.793-3T>C) c.595-3T>C (n.595-3T>C) n.865-3T>C n.855-3T>C | ClinVar dbSNP |
2 | g.47414266T= | CA2495833741 | MSH2 | c.793-3T= (n.793-3T=) c.595-3T= (n.595-3T=) n.865-3T= n.855-3T= | |
2 | g.47414267A= | CA2495833747 | MSH2 | c.793-2A= (n.793-2A=) c.595-2A= (n.595-2A=) n.865-2A= n.855-2A= | |
2 | g.47414267A>C | CA022304 | MSH2 | c.793-2A>C (n.793-2A>C) c.595-2A>C (n.595-2A>C) n.865-2A>C n.855-2A>C | ClinVar dbSNP |
2 | g.47414267A>G | CA346732732 | MSH2 | c.793-2A>G (n.793-2A>G) c.595-2A>G (n.595-2A>G) n.865-2A>G n.855-2A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414267A>T | CA346732733 | MSH2 | c.793-2A>T (n.793-2A>T) c.595-2A>T (n.595-2A>T) n.865-2A>T n.855-2A>T | ClinVar dbSNP |
2 | g.47414267_47414268insAAATTAA | CA1139771894 | MSH2 | c.793-2_793-1insAAATTAA (n.793-2_793-1insAAATTAA) c.595-2_595-1insAAATTAA (n.595-2_595-1insAAATTAA) n.865-2_865-1insAAATTAA n.855-2_855-1insAAATTAA | |
2 | g.47414267_47414272delinsAGGTTG | CA2495833751 | MSH2 | c.793-2_796delinsAGGTTG c.595-2_598delinsAGGTTG n.865-2_868delinsAGGTTG n.855-2_858delinsAGGTTG | |
2 | g.47414268G>A | CA279694 | MSH2 | c.793-1G>A (n.793-1G>A) c.595-1G>A (n.595-1G>A) n.865-1G>A n.855-1G>A | ClinVar dbSNP |
2 | g.47414268G>C | CA346732734 | MSH2 | c.793-1G>C (n.793-1G>C) c.595-1G>C (n.595-1G>C) n.865-1G>C n.855-1G>C | ClinVar dbSNP |
2 | g.47414268G= | CA2495833758 | MSH2 | c.793-1G= (n.793-1G=) c.595-1G= (n.595-1G=) n.865-1G= n.855-1G= | |
2 | g.47414268G>T | CA346732735 | MSH2 | c.793-1G>T (n.793-1G>T) c.595-1G>T (n.595-1G>T) n.865-1G>T n.855-1G>T | ClinVar dbSNP |
2 | g.47414268_47414269del | CA1139771123 | MSH2 | c.793-1_793del c.595-1_595del n.865-1_865del n.855-1_855del | |
2 | g.47414268_47414272del | CA2573051956 | MSH2 | c.793-1_796del c.595-1_598del n.865-1_868del n.855-1_858del | dbSNP |
2 | g.47414268_47414272delinsAAATTAAGA | CA273851 | MSH2 | c.793-1_796delinsAAATTAAGA c.595-1_598delinsAAATTAAGA n.865-1_868delinsAAATTAAGA n.855-1_858delinsAAATTAAGA | dbSNP |
2 | g.47414269G>A | CA346732737 | MSH2 | c.793G>A (p.Val265Ile) c.595G>A (p.Val199Ile) n.865G>A n.855G>A | ClinVar dbSNP |
2 | g.47414269G>C | CA346732738 | MSH2 | c.793G>C (p.Val265Leu) c.595G>C (p.Val199Leu) n.865G>C n.855G>C | dbSNP |
2 | g.47414269G= | CA2495833762 | MSH2 | c.793G= (p.Val265=) c.595G= (p.Val199=) n.865G= n.855G= | |
2 | g.47414269G>T | CA346732736 | MSH2 | c.793G>T (p.Val265Phe) c.595G>T (p.Val199Phe) n.865G>T n.855G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47414269_47414270delinsGT | CA2495833763 | MSH2 | c.793_794delinsGT (p.Val265=) c.595_596delinsGT (p.Val199=) n.865_866delinsGT n.855_856delinsGT | |
2 | g.47414269_47414270insAAA | CA1139532100 | MSH2 | c.793_794insAAA (p.Val265delinsGluIle) c.595_596insAAA (p.Val199delinsGluIle) n.865_866insAAA n.855_856insAAA | |
2 | g.47414270T>A | CA346732739 | MSH2 | c.794T>A (p.Val265Asp) c.596T>A (p.Val199Asp) n.866T>A n.856T>A | dbSNP |
2 | g.47414270T>C | CA346732740 | MSH2 | c.794T>C (p.Val265Ala) c.596T>C (p.Val199Ala) n.866T>C n.856T>C | dbSNP |
2 | g.47414270T>G | CA346732741 | MSH2 | c.794T>G (p.Val265Gly) c.596T>G (p.Val199Gly) n.866T>G n.856T>G | |
2 | g.47414271del | CA022317 | MSH2 | c.795del (p.Ala266GlnfsTer8) c.597del (p.Ala200GlnfsTer8) n.867del n.857del | ClinVar dbSNP |
2 | g.47414271T>A | CA425969588 | MSH2 | c.795T>A (p.Val265=) c.597T>A (p.Val199=) n.867T>A n.857T>A | |
2 | g.47414271T>C | CA022323 | MSH2 | c.795T>C (p.Val265=) c.597T>C (p.Val199=) n.867T>C n.857T>C | dbSNP |
2 | g.47414271T>G | CA040664 | MSH2 | c.795T>G (p.Val265=) c.597T>G (p.Val199=) n.867T>G n.857T>G | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.47414271T= | CA2495833766 | MSH2 | c.795T= (p.Val265=) c.597T= (p.Val199=) n.867T= n.857T= | |
2 | g.47414272del | CA2699275188 | MSH2 | c.796del (p.Ala266GlnfsTer8) c.598del (p.Ala200GlnfsTer8) n.868del n.858del | dbSNP |
2 | g.47414272G>A | CA346732742 | MSH2 | c.796G>A (p.Ala266Thr) c.598G>A (p.Ala200Thr) n.868G>A n.858G>A | ClinVar dbSNP |
2 | g.47414272G>C | CA346732743 | MSH2 | c.796G>C (p.Ala266Pro) c.598G>C (p.Ala200Pro) n.868G>C n.858G>C | dbSNP |
2 | g.47414272G= | CA2495833769 | MSH2 | c.796G= (p.Ala266=) c.598G= (p.Ala200=) n.868G= n.858G= | |
2 | g.47414272G>T | CA346732744 | MSH2 | c.796G>T (p.Ala266Ser) c.598G>T (p.Ala200Ser) n.868G>T n.858G>T | dbSNP gnomAD v4 |
2 | g.47414272_47414273del | CA2580066979 | MSH2 | c.796_797del (p.Ala266SerfsTer17) c.598_599del (p.Ala200SerfsTer17) n.868_869del n.858_859del | ClinVar |
2 | g.47414273C>A | CA346732745 | MSH2 | c.797C>A (p.Ala266Glu) c.599C>A (p.Ala200Glu) n.869C>A n.859C>A | ClinVar dbSNP COSMIC |
2 | g.47414273C= | CA2495833775 | MSH2 | c.797C= (p.Ala266=) c.599C= (p.Ala200=) n.869C= n.859C= | |
2 | g.47414273C>G | CA346732746 | MSH2 | c.797C>G (p.Ala266Gly) c.599C>G (p.Ala200Gly) n.869C>G n.859C>G | |
2 | g.47414273C>T | CA022328 | MSH2 | c.797C>T (p.Ala266Val) c.599C>T (p.Ala200Val) n.869C>T n.859C>T | ClinVar dbSNP |
2 | g.47414274A= | CA2495833782 | MSH2 | c.798A= (p.Ala266=) c.600A= (p.Ala200=) n.870A= n.860A= | |
2 | g.47414274A>C | CA425969607 | MSH2 | c.798A>C (p.Ala266=) c.600A>C (p.Ala200=) n.870A>C n.860A>C | |
2 | g.47414274A>G | CA425969610 | MSH2 | c.798A>G (p.Ala266=) c.600A>G (p.Ala200=) n.870A>G n.860A>G | ClinVar dbSNP |
2 | g.47414274A>T | CA10582004 | MSH2 | c.798A>T (p.Ala266=) c.600A>T (p.Ala200=) n.870A>T n.860A>T | ClinVar dbSNP |
2 | g.47414275G>A | CA346732749 | MSH2 | c.799G>A (p.Val267Ile) c.601G>A (p.Val201Ile) n.871G>A n.861G>A | ClinVar dbSNP COSMIC |
2 | g.47414275G>C | CA346732748 | MSH2 | c.799G>C (p.Val267Leu) c.601G>C (p.Val201Leu) n.871G>C n.861G>C | ClinVar dbSNP |
2 | g.47414275G>T | CA346732747 | MSH2 | c.799G>T (p.Val267Phe) c.601G>T (p.Val201Phe) n.871G>T n.861G>T | ClinVar |
2 | g.47414276T>A | CA346732750 | MSH2 | c.800T>A (p.Val267Asp) c.602T>A (p.Val201Asp) n.872T>A n.862T>A | |
2 | g.47414276T>C | CA346732751 | MSH2 | c.800T>C (p.Val267Ala) c.602T>C (p.Val201Ala) n.872T>C n.862T>C | |
2 | g.47414276T>G | CA346732752 | MSH2 | c.800T>G (p.Val267Gly) c.602T>G (p.Val201Gly) n.872T>G n.862T>G | |
2 | g.47414278dup | CA2580066987 | MSH2 | c.802dup (p.Ser268PhefsTer16) c.604dup (p.Ser202PhefsTer16) n.874dup n.864dup | ClinVar |
2 | g.47414278del | CA2580066986 | MSH2 | c.802del (p.Ser268HisfsTer6) c.604del (p.Ser202HisfsTer6) n.874del n.864del | ClinVar |
2 | g.47414278_47414315del | CA2580066985 | MSH2 | c.802_839del (p.Ser268IlefsTer3) c.604_641del (p.Ser202IlefsTer3) n.874_911del n.864_901del | ClinVar |
2 | g.47414277T>A | CA425969630 | MSH2 | c.801T>A (p.Val267=) c.603T>A (p.Val201=) n.873T>A n.863T>A | dbSNP COSMIC |
2 | g.47414277T>C | CA425969628 | MSH2 | c.801T>C (p.Val267=) c.603T>C (p.Val201=) n.873T>C n.863T>C | |
2 | g.47414277T>G | CA425969626 | MSH2 | c.801T>G (p.Val267=) c.603T>G (p.Val201=) n.873T>G n.863T>G | ClinVar dbSNP |
2 | g.47414278_47414289dup | CA2580066989 | MSH2 | c.802_813dup (p.Ser271_Ala272insSerSerLeuSer) c.604_615dup (p.Ser205_Ala206insSerSerLeuSer) n.874_885dup n.864_875dup | ClinVar |
2 | g.47414278T>A | CA346732753 | MSH2 | c.802T>A (p.Ser268Thr) c.604T>A (p.Ser202Thr) n.874T>A n.864T>A | |
2 | g.47414278T>C | CA346732754 | MSH2 | c.802T>C (p.Ser268Pro) c.604T>C (p.Ser202Pro) n.874T>C n.864T>C | dbSNP |
2 | g.47414278T>G | CA10577951 | MSH2 | c.802T>G (p.Ser268Ala) c.604T>G (p.Ser202Ala) n.874T>G n.864T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414278T= | CA2495833786 | MSH2 | c.802T= (p.Ser268=) c.604T= (p.Ser202=) n.874T= n.864T= | |
2 | g.47414278_47414279insGT | CA2582342372 | MSH2 | c.802_803insGT (p.Ser268CysfsTer7) c.604_605insGT (p.Ser202CysfsTer7) n.874_875insGT n.864_865insGT | ClinVar |
2 | g.47414279C>A | CA346732755 | MSH2 | c.803C>A (p.Ser268Ter) c.605C>A (p.Ser202Ter) n.875C>A n.865C>A | ClinVar dbSNP |
2 | g.47414279C= | CA2495833795 | MSH2 | c.803C= (p.Ser268=) c.605C= (p.Ser202=) n.875C= n.865C= | |
2 | g.47414279C>G | CA346732756 | MSH2 | c.803C>G (p.Ser268Ter) c.605C>G (p.Ser202Ter) n.875C>G n.865C>G | ClinVar dbSNP |
2 | g.47414279C>T | CA040677 | MSH2 | c.803C>T (p.Ser268Leu) c.605C>T (p.Ser202Leu) n.875C>T n.865C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414280A= | CA2495833804 | MSH2 | c.804A= (p.Ser268=) c.606A= (p.Ser202=) n.876A= n.866A= | |
2 | g.47414280A>C | CA425969645 | MSH2 | c.804A>C (p.Ser268=) c.606A>C (p.Ser202=) n.876A>C n.866A>C | |
2 | g.47414280A>G | CA16604138 | MSH2 | c.804A>G (p.Ser268=) c.606A>G (p.Ser202=) n.876A>G n.866A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414280A>T | CA10577952 | MSH2 | c.804A>T (p.Ser268=) c.606A>T (p.Ser202=) n.876A>T n.866A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414280dup | CA2586969209 | MSH2 | c.804dup (p.Ser269IlefsTer15) c.606dup (p.Ser203IlefsTer15) n.876dup n.866dup | |
2 | g.47414281T>A | CA346732757 | MSH2 | c.805T>A (p.Ser269Thr) c.607T>A (p.Ser203Thr) n.877T>A n.867T>A | |
2 | g.47414281T>C | CA346732758 | MSH2 | c.805T>C (p.Ser269Pro) c.607T>C (p.Ser203Pro) n.877T>C n.867T>C | dbSNP |
2 | g.47414281T>G | CA346732759 | MSH2 | c.805T>G (p.Ser269Ala) c.607T>G (p.Ser203Ala) n.877T>G n.867T>G | |
2 | g.47414282C>A | CA16042056 | MSH2 | c.806C>A (p.Ser269Ter) c.608C>A (p.Ser203Ter) n.878C>A n.868C>A | ClinVar dbSNP |
2 | g.47414282C= | CA2495833811 | MSH2 | c.806C= (p.Ser269=) c.608C= (p.Ser203=) n.878C= n.868C= | |
2 | g.47414282C>G | CA346732760 | MSH2 | c.806C>G (p.Ser269Ter) c.608C>G (p.Ser203Ter) n.878C>G n.868C>G | ClinVar dbSNP |
2 | g.47414282C>T | CA022333 | MSH2 | c.806C>T (p.Ser269Leu) c.608C>T (p.Ser203Leu) n.878C>T n.868C>T | ClinVar dbSNP |
2 | g.47414282_47414283insTGTACCGCAGATT | CA16617565 | MSH2 | c.806_807insTGTACCGCAGATT (p.Leu270ValfsTer18) c.608_609insTGTACCGCAGATT (p.Leu204ValfsTer18) n.878_879insTGTACCGCAGATT n.868_869insTGTACCGCAGATT | ClinVar dbSNP |
2 | g.47414283A>C | CA425969666 | MSH2 | c.807A>C (p.Ser269=) c.609A>C (p.Ser203=) n.879A>C n.869A>C | |
2 | g.47414283A>G | CA425969661 | MSH2 | c.807A>G (p.Ser269=) c.609A>G (p.Ser203=) n.879A>G n.869A>G | ClinVar dbSNP |
2 | g.47414283A>T | CA425969664 | MSH2 | c.807A>T (p.Ser269=) c.609A>T (p.Ser203=) n.879A>T n.869A>T | dbSNP |
2 | g.47414283dup | CA46683826 | MSH2 | c.807dup (p.Leu270ThrfsTer14) c.609dup (p.Leu204ThrfsTer14) n.879dup n.869dup | dbSNP |
2 | g.47414283_47414287delinsACTGT | CA2495833818 | MSH2 | c.807_811delinsACTGT (p.Ser269=) c.609_613delinsACTGT (p.Ser203=) n.879_883delinsACTGT n.869_873delinsACTGT | |
2 | g.47414284C>A | CA346732761 | MSH2 | c.808C>A (p.Leu270Met) c.610C>A (p.Leu204Met) n.880C>A n.870C>A | dbSNP |
2 | g.47414284C= | CA2495833827 | MSH2 | c.808C= (p.Leu270=) c.610C= (p.Leu204=) n.880C= n.870C= | |
2 | g.47414284C>G | CA040694 | MSH2 | c.808C>G (p.Leu270Val) c.610C>G (p.Leu204Val) n.880C>G n.870C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414284C>T | CA425969674 | MSH2 | c.808C>T (p.Leu270=) c.610C>T (p.Leu204=) n.880C>T n.870C>T | ClinVar dbSNP |
2 | g.47414284_47414286delinsCTG | CA2495833826 | MSH2 | c.808_810delinsCTG (p.Leu270=) c.610_612delinsCTG (p.Leu204=) n.880_882delinsCTG n.870_872delinsCTG | |
2 | g.47414287_47414290del | CA022348 | MSH2 | c.811_814del (p.Ser271ArgfsTer2) c.613_616del (p.Ser205ArgfsTer2) n.883_886del n.873_876del | ClinVar dbSNP |
2 | g.47414285T>A | CA346732762 | MSH2 | c.809T>A (p.Leu270Gln) c.611T>A (p.Leu204Gln) n.881T>A n.871T>A | |
2 | g.47414285T>C | CA346732763 | MSH2 | c.809T>C (p.Leu270Pro) c.611T>C (p.Leu204Pro) n.881T>C n.871T>C | ClinVar dbSNP |
2 | g.47414285T>G | CA346732764 | MSH2 | c.809T>G (p.Leu270Arg) c.611T>G (p.Leu204Arg) n.881T>G n.871T>G | ClinVar |
2 | g.47414285T= | CA2495833834 | MSH2 | c.809T= (p.Leu270=) c.611T= (p.Leu204=) n.881T= n.871T= | |
2 | g.47414286_47414287del | CA022343 | MSH2 | c.810_811del (p.Ser271CysfsTer12) c.612_613del (p.Ser205CysfsTer12) n.882_883del n.872_873del | ClinVar dbSNP |
2 | g.47414286G>A | CA425969691 | MSH2 | c.810G>A (p.Leu270=) c.612G>A (p.Leu204=) n.882G>A n.872G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414286G>C | CA425969694 | MSH2 | c.810G>C (p.Leu270=) c.612G>C (p.Leu204=) n.882G>C n.872G>C | ClinVar dbSNP |
2 | g.47414286G= | CA2495833841 | MSH2 | c.810G= (p.Leu270=) c.612G= (p.Leu204=) n.882G= n.872G= | |
2 | g.47414286G>T | CA10577953 | MSH2 | c.810G>T (p.Leu270=) c.612G>T (p.Leu204=) n.882G>T n.872G>T | ClinVar dbSNP |
2 | g.47414286_47414288delinsGTC | CA2495833839 | MSH2 | c.810_812delinsGTC (p.Leu270=) c.612_614delinsGTC (p.Leu204=) n.882_884delinsGTC n.872_874delinsGTC | |
2 | g.47414287T>A | CA346732765 | MSH2 | c.811T>A (p.Ser271Thr) c.613T>A (p.Ser205Thr) n.883T>A n.873T>A | |
2 | g.47414287T>C | CA346732767 | MSH2 | c.811T>C (p.Ser271Pro) c.613T>C (p.Ser205Pro) n.883T>C n.873T>C | |
2 | g.47414287T>G | CA346732766 | MSH2 | c.811T>G (p.Ser271Ala) c.613T>G (p.Ser205Ala) n.883T>G n.873T>G | |
2 | g.47414288_47414289del | CA915943890 | MSH2 | c.812_813del (p.Ser271CysfsTer12) c.614_615del (p.Ser205CysfsTer12) n.884_885del n.874_875del | ClinVar dbSNP |
2 | g.47414287_47414290delinsCTGT | CA46683881 | MSH2 | c.811_814delinsCTGT (p.Ser271_Ala272delinsLeuSer) c.613_616delinsCTGT (p.Ser205_Ala206delinsLeuSer) n.883_886delinsCTGT n.873_876delinsCTGT | |
2 | g.47414287_47414290delinsGTCT | CA46683885 | MSH2 | c.811_814delinsGTCT (p.Ser271_Ala272delinsValSer) c.613_616delinsGTCT (p.Ser205_Ala206delinsValSer) n.883_886delinsGTCT n.873_876delinsGTCT | |
2 | g.47414288C>A | CA10577954 | MSH2 | c.812C>A (p.Ser271Tyr) c.614C>A (p.Ser205Tyr) n.884C>A n.874C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414288C= | CA2495833850 | MSH2 | c.812C= (p.Ser271=) c.614C= (p.Ser205=) n.884C= n.874C= | |
2 | g.47414288C>G | CA349912 | MSH2 | c.812C>G (p.Ser271Cys) c.614C>G (p.Ser205Cys) n.884C>G n.874C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414288C>T | CA46683893 | MSH2 | c.812C>T (p.Ser271Phe) c.614C>T (p.Ser205Phe) n.884C>T n.874C>T | ClinVar dbSNP |
2 | g.47414289T>A | CA425969710 | MSH2 | c.813T>A (p.Ser271=) c.615T>A (p.Ser205=) n.885T>A n.875T>A | |
2 | g.47414289T>C | CA425969712 | MSH2 | c.813T>C (p.Ser271=) c.615T>C (p.Ser205=) n.885T>C n.875T>C | ClinVar dbSNP |
2 | g.47414289T>G | CA16604229 | MSH2 | c.813T>G (p.Ser271=) c.615T>G (p.Ser205=) n.885T>G n.875T>G | ClinVar dbSNP |
2 | g.47414289T= | CA2495833858 | MSH2 | c.813T= (p.Ser271=) c.615T= (p.Ser205=) n.885T= n.875T= | |
2 | g.47414290G>A | CA346732768 | MSH2 | c.814G>A (p.Ala272Thr) c.616G>A (p.Ala206Thr) n.886G>A n.876G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414290G>C | CA346732770 | MSH2 | c.814G>C (p.Ala272Pro) c.616G>C (p.Ala206Pro) n.886G>C n.876G>C | dbSNP |
2 | g.47414290G= | CA2495833874 | MSH2 | c.814G= (p.Ala272=) c.616G= (p.Ala206=) n.886G= n.876G= | |
2 | g.47414290G>T | CA346732769 | MSH2 | c.814G>T (p.Ala272Ser) c.616G>T (p.Ala206Ser) n.886G>T n.876G>T | |
2 | g.47414290_47414291delinsAT | CA022352 | MSH2 | c.814_815delinsAT (p.Ala272Met) c.616_617delinsAT (p.Ala206Met) n.886_887delinsAT n.876_877delinsAT | dbSNP |
2 | g.47414290_47414291delinsGC | CA2495833864 | MSH2 | c.814_815delinsGC (p.Ala272=) c.616_617delinsGC (p.Ala206=) n.886_887delinsGC n.876_877delinsGC | |
2 | g.47414291C>A | CA346732771 | MSH2 | c.815C>A (p.Ala272Glu) c.617C>A (p.Ala206Glu) n.887C>A n.877C>A | dbSNP |
2 | g.47414291C= | CA2495833884 | MSH2 | c.815C= (p.Ala272=) c.617C= (p.Ala206=) n.887C= n.877C= | |
2 | g.47414291C>G | CA346732772 | MSH2 | c.815C>G (p.Ala272Gly) c.617C>G (p.Ala206Gly) n.887C>G n.877C>G | dbSNP |
2 | g.47414291C>T | CA022356 | MSH2 | c.815C>T (p.Ala272Val) c.617C>T (p.Ala206Val) n.887C>T n.877C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414291_47414292delinsCG | CA2495833882 | MSH2 | c.815_816delinsCG (p.Ala272=) c.617_618delinsCG (p.Ala206=) n.887_888delinsCG n.877_878delinsCG | |
2 | g.47414292G>A | CA040753 | MSH2 | c.816G>A (p.Ala272=) c.618G>A (p.Ala206=) n.888G>A n.878G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414292G>C | CA425969726 | MSH2 | c.816G>C (p.Ala272=) c.618G>C (p.Ala206=) n.888G>C n.878G>C | ClinVar |
2 | g.47414292G= | CA2495833893 | MSH2 | c.816G= (p.Ala272=) c.618G= (p.Ala206=) n.888G= n.878G= | |
2 | g.47414292G>T | CA425969723 | MSH2 | c.816G>T (p.Ala272=) c.618G>T (p.Ala206=) n.888G>T n.878G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414293del | CA1139656931 | MSH2 | c.817del (p.Val273Ter) c.619del (p.Val207Ter) n.889del n.879del | ClinVar dbSNP |
2 | g.47414293G>A | CA040766 | MSH2 | c.817G>A (p.Val273Ile) c.619G>A (p.Val207Ile) n.889G>A n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414293G>C | CA346732773 | MSH2 | c.817G>C (p.Val273Leu) c.619G>C (p.Val207Leu) n.889G>C n.879G>C | dbSNP |
2 | g.47414293G= | CA2495833904 | MSH2 | c.817G= (p.Val273=) c.619G= (p.Val207=) n.889G= n.879G= | |
2 | g.47414293G>T | CA346732774 | MSH2 | c.817G>T (p.Val273Leu) c.619G>T (p.Val207Leu) n.889G>T n.879G>T | ClinVar dbSNP |
2 | g.47414293_47414294delinsAA | CA022365 | MSH2 | c.817_818delinsAA (p.Val273Lys) c.619_620delinsAA (p.Val207Lys) n.889_890delinsAA n.879_880delinsAA | dbSNP |
2 | g.47414293_47414294delinsGT | CA2495833903 | MSH2 | c.817_818delinsGT (p.Val273=) c.619_620delinsGT (p.Val207=) n.889_890delinsGT n.879_880delinsGT | |
2 | g.47414294del | CA913090558 | MSH2 | c.818del (p.Val273GlufsTer5) c.620del (p.Val207GlufsTer5) n.890del n.880del | |
2 | g.47414294T>A | CA346732775 | MSH2 | c.818T>A (p.Val273Glu) c.620T>A (p.Val207Glu) n.890T>A n.880T>A | |
2 | g.47414294T>C | CA040789 | MSH2 | c.818T>C (p.Val273Ala) c.620T>C (p.Val207Ala) n.890T>C n.880T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414294T>G | CA346732776 | MSH2 | c.818T>G (p.Val273Gly) c.620T>G (p.Val207Gly) n.890T>G n.880T>G | |
2 | g.47414294T= | CA2495833913 | MSH2 | c.818T= (p.Val273=) c.620T= (p.Val207=) n.890T= n.880T= | |
2 | g.47414294_47414297delinsTAAT | CA2495833916 | MSH2 | c.818_821delinsTAAT (p.Val273=) c.620_623delinsTAAT (p.Val207=) n.890_893delinsTAAT n.880_883delinsTAAT | |
2 | g.47414295A= | CA2495833926 | MSH2 | c.819A= (p.Val273=) c.621A= (p.Val207=) n.891A= n.881A= | |
2 | g.47414295A>C | CA425969734 | MSH2 | c.819A>C (p.Val273=) c.621A>C (p.Val207=) n.891A>C n.881A>C | |
2 | g.47414295A>G | CA022370 | MSH2 | c.819A>G (p.Val273=) c.621A>G (p.Val207=) n.891A>G n.881A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414295A>T | CA425969737 | MSH2 | c.819A>T (p.Val273=) c.621A>T (p.Val207=) n.891A>T n.881A>T | dbSNP gnomAD v4 |
2 | g.47414295_47414297delinsTG | CA349973 | MSH2 | c.819_821delinsTG (p.Ile274AlafsTer4) c.621_623delinsTG (p.Ile208AlafsTer4) n.891_893delinsTG n.881_883delinsTG | ClinVar dbSNP |
2 | g.47414296A= | CA2495833935 | MSH2 | c.820A= (p.Ile274=) c.622A= (p.Ile208=) n.892A= n.882A= | |
2 | g.47414296A>C | CA346732777 | MSH2 | c.820A>C (p.Ile274Leu) c.622A>C (p.Ile208Leu) n.892A>C n.882A>C | ClinVar dbSNP |
2 | g.47414296A>G | CA022377 | MSH2 | c.820A>G (p.Ile274Val) c.622A>G (p.Ile208Val) n.892A>G n.882A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414296A>T | CA346732778 | MSH2 | c.820A>T (p.Ile274Phe) c.622A>T (p.Ile208Phe) n.892A>T n.882A>T | dbSNP |
2 | g.47414297T>A | CA346732779 | MSH2 | c.821T>A (p.Ile274Asn) c.623T>A (p.Ile208Asn) n.893T>A n.883T>A | dbSNP gnomAD v4 |
2 | g.47414297T>C | CA346732780 | MSH2 | c.821T>C (p.Ile274Thr) c.623T>C (p.Ile208Thr) n.893T>C n.883T>C | dbSNP |
2 | g.47414297T>G | CA346732781 | MSH2 | c.821T>G (p.Ile274Ser) c.623T>G (p.Ile208Ser) n.893T>G n.883T>G | dbSNP |
2 | g.47414297_47414298insG | CA2499216017 | MSH2 | c.821_822insG (p.Ile274MetfsTer10) c.623_624insG (p.Ile208MetfsTer10) n.893_894insG n.883_884insG | dbSNP |
2 | g.47414298C>A | CA425969748 | MSH2 | c.822C>A (p.Ile274=) c.624C>A (p.Ile208=) n.894C>A n.884C>A | ClinVar gnomAD v4 |
2 | g.47414298C= | CA2495833938 | MSH2 | c.822C= (p.Ile274=) c.624C= (p.Ile208=) n.894C= n.884C= | |
2 | g.47414298C>G | CA46683968 | MSH2 | c.822C>G (p.Ile274Met) c.624C>G (p.Ile208Met) n.894C>G n.884C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414298C>T | CA425969749 | MSH2 | c.822C>T (p.Ile274=) c.624C>T (p.Ile208=) n.894C>T n.884C>T | ClinVar dbSNP |
2 | g.47414299A= | CA2495833939 | MSH2 | c.823A= (p.Lys275=) c.625A= (p.Lys209=) n.895A= n.885A= | |
2 | g.47414299A>C | CA346732784 | MSH2 | c.823A>C (p.Lys275Gln) c.625A>C (p.Lys209Gln) n.895A>C n.885A>C | ClinVar dbSNP |
2 | g.47414299A>G | CA346732782 | MSH2 | c.823A>G (p.Lys275Glu) c.625A>G (p.Lys209Glu) n.895A>G n.885A>G | gnomAD v4 |
2 | g.47414299A>T | CA346732783 | MSH2 | c.823A>T (p.Lys275Ter) c.625A>T (p.Lys209Ter) n.895A>T n.885A>T | dbSNP |
2 | g.47414300A= | CA2495833940 | MSH2 | c.824A= (p.Lys275=) c.626A= (p.Lys209=) n.896A= n.886A= | |
2 | g.47414300A>C | CA346732785 | MSH2 | c.824A>C (p.Lys275Thr) c.626A>C (p.Lys209Thr) n.896A>C n.886A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47414300A>G | CA346732786 | MSH2 | c.824A>G (p.Lys275Arg) c.626A>G (p.Lys209Arg) n.896A>G n.886A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414300A>T | CA346732787 | MSH2 | c.824A>T (p.Lys275Met) c.626A>T (p.Lys209Met) n.896A>T n.886A>T | dbSNP |
2 | g.47414301G>A | CA425969767 | MSH2 | c.825G>A (p.Lys275=) c.627G>A (p.Lys209=) n.897G>A n.887G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414301G>C | CA346732788 | MSH2 | c.825G>C (p.Lys275Asn) c.627G>C (p.Lys209Asn) n.897G>C n.887G>C | |
2 | g.47414301G= | CA2495833941 | MSH2 | c.825G= (p.Lys275=) c.627G= (p.Lys209=) n.897G= n.887G= | |
2 | g.47414301G>T | CA346732789 | MSH2 | c.825G>T (p.Lys275Asn) c.627G>T (p.Lys209Asn) n.897G>T n.887G>T | |
2 | g.47414302T>A | CA346732790 | MSH2 | c.826T>A (p.Phe276Ile) c.628T>A (p.Phe210Ile) n.898T>A n.888T>A | ClinVar dbSNP |
2 | g.47414302T>C | CA346732792 | MSH2 | c.826T>C (p.Phe276Leu) c.628T>C (p.Phe210Leu) n.898T>C n.888T>C | |
2 | g.47414302T>G | CA346732791 | MSH2 | c.826T>G (p.Phe276Val) c.628T>G (p.Phe210Val) n.898T>G n.888T>G | ClinVar |
2 | g.47414302T= | CA2495833942 | MSH2 | c.826T= (p.Phe276=) c.628T= (p.Phe210=) n.898T= n.888T= | |
2 | g.47414306del | CA2499216018 | MSH2 | c.830del (p.Leu277Ter) c.632del (p.Leu211Ter) n.902del n.892del | ClinVar dbSNP |
2 | g.47414303T>A | CA346732793 | MSH2 | c.827T>A (p.Phe276Tyr) c.629T>A (p.Phe210Tyr) n.899T>A n.889T>A | dbSNP |
2 | g.47414303T>C | CA346732794 | MSH2 | c.827T>C (p.Phe276Ser) c.629T>C (p.Phe210Ser) n.899T>C n.889T>C | |
2 | g.47414303T>G | CA346732795 | MSH2 | c.827T>G (p.Phe276Cys) c.629T>G (p.Phe210Cys) n.899T>G n.889T>G | ClinVar dbSNP |
2 | g.47414304T>A | CA346732796 | MSH2 | c.828T>A (p.Phe276Leu) c.630T>A (p.Phe210Leu) n.900T>A n.890T>A | |
2 | g.47414304T>C | CA425969781 | MSH2 | c.828T>C (p.Phe276=) c.630T>C (p.Phe210=) n.900T>C n.890T>C | |
2 | g.47414304T>G | CA346732797 | MSH2 | c.828T>G (p.Phe276Leu) c.630T>G (p.Phe210Leu) n.900T>G n.890T>G | |
2 | g.47414305T>A | CA346732798 | MSH2 | c.829T>A (p.Leu277Ile) c.631T>A (p.Leu211Ile) n.901T>A n.891T>A | dbSNP |
2 | g.47414305T>C | CA425969784 | MSH2 | c.829T>C (p.Leu277=) c.631T>C (p.Leu211=) n.901T>C n.891T>C | |
2 | g.47414305T>G | CA346732799 | MSH2 | c.829T>G (p.Leu277Val) c.631T>G (p.Leu211Val) n.901T>G n.891T>G | |
2 | g.47414306T>A | CA16610850 | MSH2 | c.830T>A (p.Leu277Ter) c.632T>A (p.Leu211Ter) n.902T>A n.892T>A | ClinVar dbSNP |
2 | g.47414306T>C | CA346732800 | MSH2 | c.830T>C (p.Leu277Ser) c.632T>C (p.Leu211Ser) n.902T>C n.892T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414306T>G | CA022392 | MSH2 | c.830T>G (p.Leu277Ter) c.632T>G (p.Leu211Ter) n.902T>G n.892T>G | ClinVar dbSNP |
2 | g.47414306T= | CA2495833943 | MSH2 | c.830T= (p.Leu277=) c.632T= (p.Leu211=) n.902T= n.892T= | |
2 | g.47414306_47414308delinsTAG | CA2495833944 | MSH2 | c.830_832delinsTAG (p.Leu277=) c.632_634delinsTAG (p.Leu211=) n.902_904delinsTAG n.892_894delinsTAG | |
2 | g.47414307A>C | CA346732801 | MSH2 | c.831A>C (p.Leu277Phe) c.633A>C (p.Leu211Phe) n.903A>C n.893A>C | |
2 | g.47414307A>G | CA425969793 | MSH2 | c.831A>G (p.Leu277=) c.633A>G (p.Leu211=) n.903A>G n.893A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414307A>T | CA346732802 | MSH2 | c.831A>T (p.Leu277Phe) c.633A>T (p.Leu211Phe) n.903A>T n.893A>T | dbSNP |
2 | g.47414308_47414309del | CA913187889 | MSH2 | c.832_833del (p.Glu278ThrfsTer5) c.634_635del (p.Glu212ThrfsTer5) n.904_905del n.894_895del | ClinVar dbSNP |
2 | g.47414308del | CA2586969212 | MSH2 | c.832del (p.Glu278AsnfsTer14) c.634del (p.Glu212AsnfsTer14) n.904del n.894del | |
2 | g.47414308G>A | CA346732803 | MSH2 | c.832G>A (p.Glu278Lys) c.634G>A (p.Glu212Lys) n.904G>A n.894G>A | ClinVar dbSNP |
2 | g.47414308G>C | CA346732805 | MSH2 | c.832G>C (p.Glu278Gln) c.634G>C (p.Glu212Gln) n.904G>C n.894G>C | dbSNP |
2 | g.47414308G= | CA2495833945 | MSH2 | c.832G= (p.Glu278=) c.634G= (p.Glu212=) n.904G= n.894G= | |
2 | g.47414308G>T | CA346732804 | MSH2 | c.832G>T (p.Glu278Ter) c.634G>T (p.Glu212Ter) n.904G>T n.894G>T | ClinVar dbSNP |
2 | g.47414309A= | CA2495833946 | MSH2 | c.833A= (p.Glu278=) c.635A= (p.Glu212=) n.905A= n.895A= | |
2 | g.47414309A>C | CA346732806 | MSH2 | c.833A>C (p.Glu278Ala) c.635A>C (p.Glu212Ala) n.905A>C n.895A>C | dbSNP |
2 | g.47414309A>G | CA346732808 | MSH2 | c.833A>G (p.Glu278Gly) c.635A>G (p.Glu212Gly) n.905A>G n.895A>G | ClinVar dbSNP |
2 | g.47414309A>T | CA346732807 | MSH2 | c.833A>T (p.Glu278Val) c.635A>T (p.Glu212Val) n.905A>T n.895A>T | dbSNP |
2 | g.47414310A= | CA2495833947 | MSH2 | c.834A= (p.Glu278=) c.636A= (p.Glu212=) n.906A= n.896A= | |
2 | g.47414310A>C | CA346732809 | MSH2 | c.834A>C (p.Glu278Asp) c.636A>C (p.Glu212Asp) n.906A>C n.896A>C | |
2 | g.47414310A>G | CA10577955 | MSH2 | c.834A>G (p.Glu278=) c.636A>G (p.Glu212=) n.906A>G n.896A>G | ClinVar dbSNP |
2 | g.47414310A>T | CA346732810 | MSH2 | c.834A>T (p.Glu278Asp) c.636A>T (p.Glu212Asp) n.906A>T n.896A>T | dbSNP |
2 | g.47414310_47414311insT | CA2586969213 | MSH2 | c.834_835insT (p.Leu279SerfsTer5) c.636_637insT (p.Leu213SerfsTer5) n.906_907insT n.896_897insT | |
2 | g.47414311C>A | CA346732811 | MSH2 | c.835C>A (p.Leu279Ile) c.637C>A (p.Leu213Ile) n.907C>A n.897C>A | dbSNP |
2 | g.47414311C= | CA2495833948 | MSH2 | c.835C= (p.Leu279=) c.637C= (p.Leu213=) n.907C= n.897C= | |
2 | g.47414311C>G | CA022395 | MSH2 | c.835C>G (p.Leu279Val) c.637C>G (p.Leu213Val) n.907C>G n.897C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414311C>T | CA46683989 | MSH2 | c.835C>T (p.Leu279Phe) c.637C>T (p.Leu213Phe) n.907C>T n.897C>T | dbSNP |
2 | g.47414311_47414312delinsCT | CA2495833950 | MSH2 | c.835_836delinsCT (p.Leu279=) c.637_638delinsCT (p.Leu213=) n.907_908delinsCT n.897_898delinsCT | |
2 | g.47414311_47414314delinsCTCT | CA2495833949 | MSH2 | c.835_838delinsCTCT (p.Leu279=) c.637_640delinsCTCT (p.Leu213=) n.907_910delinsCTCT n.897_900delinsCTCT | |
2 | g.47414311_47414318dup | CA2739274422 | MSH2 | c.835_842dup (p.Asp282SerfsTer13) c.637_644dup (p.Asp216SerfsTer13) n.907_914dup n.897_904dup | ClinVar |
2 | g.47414312del | CA022401 | MSH2 | c.836del (p.Leu279ProfsTer13) c.638del (p.Leu213ProfsTer13) n.908del n.898del | ClinVar dbSNP |
2 | g.47414312T>A | CA346732812 | MSH2 | c.836T>A (p.Leu279His) c.638T>A (p.Leu213His) n.908T>A n.898T>A | ClinVar dbSNP |
2 | g.47414312T>C | CA46683995 | MSH2 | c.836T>C (p.Leu279Pro) c.638T>C (p.Leu213Pro) n.908T>C n.898T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414312T>G | CA346732813 | MSH2 | c.836T>G (p.Leu279Arg) c.638T>G (p.Leu213Arg) n.908T>G n.898T>G | ClinVar |
2 | g.47414312T= | CA2495833951 | MSH2 | c.836T= (p.Leu279=) c.638T= (p.Leu213=) n.908T= n.898T= | |
2 | g.47414313_47414315del | CA46684001 | MSH2 | c.837_839del (p.Leu280del) c.639_641del (p.Leu214del) n.909_911del n.899_901del | dbSNP |
2 | g.47414313C>A | CA425969824 | MSH2 | c.837C>A (p.Leu279=) c.639C>A (p.Leu213=) n.909C>A n.899C>A | dbSNP |
2 | g.47414313C= | CA2495833952 | MSH2 | c.837C= (p.Leu279=) c.639C= (p.Leu213=) n.909C= n.899C= | |
2 | g.47414313C>G | CA040865 | MSH2 | c.837C>G (p.Leu279=) c.639C>G (p.Leu213=) n.909C>G n.899C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414313C>T | CA16610801 | MSH2 | c.837C>T (p.Leu279=) c.639C>T (p.Leu213=) n.909C>T n.899C>T | ClinVar dbSNP |
2 | g.47414313_47414314delinsCT | CA2495833953 | MSH2 | c.837_838delinsCT (p.Leu279=) c.639_640delinsCT (p.Leu213=) n.909_910delinsCT n.899_900delinsCT | |
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.47414314T>A | CA346732814 | MSH2 | c.838T>A (p.Leu280Ile) c.640T>A (p.Leu214Ile) n.910T>A n.900T>A | |
2 | g.47414314T>C | CA425969832 | MSH2 | c.838T>C (p.Leu280=) c.640T>C (p.Leu214=) n.910T>C n.900T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47414314T>G | CA346732815 | MSH2 | c.838T>G (p.Leu280Val) c.640T>G (p.Leu214Val) n.910T>G n.900T>G | |
2 | g.47414314T= | CA2495833954 | MSH2 | c.838T= (p.Leu280=) c.640T= (p.Leu214=) n.910T= n.900T= | |
2 | g.47414315dup | CA022405 | MSH2 | c.839dup (p.Leu280PhefsTer4) c.641dup (p.Leu214PhefsTer4) n.911dup n.901dup | ClinVar dbSNP |
2 | g.47414315del | CA658683221 | MSH2 | c.839del (p.Leu280TyrfsTer12) c.641del (p.Leu214TyrfsTer12) n.911del n.901del | ClinVar dbSNP |
2 | g.47414315T>A | CA346732816 | MSH2 | c.839T>A (p.Leu280Ter) c.641T>A (p.Leu214Ter) n.911T>A n.901T>A | ClinVar dbSNP |
2 | g.47414315T>C | CA346732817 | MSH2 | c.839T>C (p.Leu280Ser) c.641T>C (p.Leu214Ser) n.911T>C n.901T>C | ClinVar dbSNP |
2 | g.47414315T>G | CA346732818 | MSH2 | c.839T>G (p.Leu280Ter) c.641T>G (p.Leu214Ter) n.911T>G n.901T>G | ClinVar |
2 | g.47414315T= | CA2495833956 | MSH2 | c.839T= (p.Leu280=) c.641T= (p.Leu214=) n.911T= n.901T= | |
2 | g.47414315_47414316delinsTA | CA2495833955 | MSH2 | c.839_840delinsTA (p.Leu280=) c.641_642delinsTA (p.Leu214=) n.911_912delinsTA n.901_902delinsTA | |
2 | g.47414316del | CA46684014 | MSH2 | c.840del (p.Leu280PhefsTer12) c.642del (p.Leu214PhefsTer12) n.912del n.902del | dbSNP |
2 | g.47414316A= | CA2495833957 | MSH2 | c.840A= (p.Leu280=) c.642A= (p.Leu214=) n.912A= n.902A= | |
2 | g.47414316A>C | CA346732819 | MSH2 | c.840A>C (p.Leu280Phe) c.642A>C (p.Leu214Phe) n.912A>C n.902A>C | ClinVar dbSNP |
2 | g.47414316A>G | CA425969839 | MSH2 | c.840A>G (p.Leu280=) c.642A>G (p.Leu214=) n.912A>G n.902A>G | |
2 | g.47414316A>T | CA346732820 | MSH2 | c.840A>T (p.Leu280Phe) c.642A>T (p.Leu214Phe) n.912A>T n.902A>T | dbSNP |
2 | g.47414316dup | CA2580067012 | MSH2 | c.840dup (p.Ser281IlefsTer3) c.642dup (p.Ser215IlefsTer3) n.912dup n.902dup | ClinVar |
2 | g.47414317_47414319del | CA2699275827 | MSH2 | c.841_843del (p.Ser281del) c.643_645del (p.Ser215del) n.913_915del n.903_905del | dbSNP |
2 | g.47414317del | CA2586969216 | MSH2 | c.841del (p.Ser281GlnfsTer11) c.643del (p.Ser215GlnfsTer11) n.913del n.903del | |
2 | g.47414317T>A | CA346732821 | MSH2 | c.841T>A (p.Ser281Thr) c.643T>A (p.Ser215Thr) n.913T>A n.903T>A | ClinVar dbSNP gnomAD v4 |
2 | g.47414317T>C | CA022412 | MSH2 | c.841T>C (p.Ser281Pro) c.643T>C (p.Ser215Pro) n.913T>C n.903T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414317T>G | CA346732822 | MSH2 | c.841T>G (p.Ser281Ala) c.643T>G (p.Ser215Ala) n.913T>G n.903T>G | |
2 | g.47414317T= | CA2495833958 | MSH2 | c.841T= (p.Ser281=) c.643T= (p.Ser215=) n.913T= n.903T= | |
2 | g.47414317dup | CA2586969215 | MSH2 | c.841dup (p.Ser281PhefsTer3) c.643dup (p.Ser215PhefsTer3) n.913dup n.903dup | |
2 | g.47414318C>A | CA022416 | MSH2 | c.842C>A (p.Ser281Ter) c.644C>A (p.Ser215Ter) n.914C>A n.904C>A | ClinVar dbSNP |
2 | g.47414318C= | CA2495833959 | MSH2 | c.842C= (p.Ser281=) c.644C= (p.Ser215=) n.914C= n.904C= | |
2 | g.47414318C>G | CA349474 | MSH2 | c.842C>G (p.Ser281Ter) c.644C>G (p.Ser215Ter) n.914C>G n.904C>G | ClinVar dbSNP |
2 | g.47414318C>T | CA346732823 | MSH2 | c.842C>T (p.Ser281Leu) c.644C>T (p.Ser215Leu) n.914C>T n.904C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414319A= | CA2495833960 | MSH2 | c.843A= (p.Ser281=) c.645A= (p.Ser215=) n.915A= n.905A= | |
2 | g.47414319A>C | CA425969851 | MSH2 | c.843A>C (p.Ser281=) c.645A>C (p.Ser215=) n.915A>C n.905A>C | |
2 | g.47414319A>G | CA16610774 | MSH2 | c.843A>G (p.Ser281=) c.645A>G (p.Ser215=) n.915A>G n.905A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414319A>T | CA040882 | MSH2 | c.843A>T (p.Ser281=) c.645A>T (p.Ser215=) n.915A>T n.905A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47414319_47414320insT | CA2580067017 | MSH2 | c.843_844insT (p.Asp282Ter) c.645_646insT (p.Asp216Ter) n.915_916insT n.905_906insT | ClinVar |
2 | g.47414320G>A | CA346732824 | MSH2 | c.844G>A (p.Asp282Asn) c.646G>A (p.Asp216Asn) n.916G>A n.906G>A | dbSNP |
2 | g.47414320G>C | CA040894 | MSH2 | c.844G>C (p.Asp282His) c.646G>C (p.Asp216His) n.916G>C n.906G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47414320G= | CA2495833962 | MSH2 | c.844G= (p.Asp282=) c.646G= (p.Asp216=) n.916G= n.906G= | |
2 | g.47414320G>T | CA346732825 | MSH2 | c.844G>T (p.Asp282Tyr) c.646G>T (p.Asp216Tyr) n.916G>T n.906G>T | dbSNP COSMIC |
2 | g.47414320_47414324delinsGATGA | CA2495833961 | MSH2 | c.844_848delinsGATGA (p.Asp282=) c.646_650delinsGATGA (p.Asp216=) n.916_920delinsGATGA n.906_910delinsGATGA | |
2 | g.47414321A= | CA2495833963 | MSH2 | c.845A= (p.Asp282=) c.647A= (p.Asp216=) n.917A= n.907A= | |
2 | g.47414321A>C | CA346732826 | MSH2 | c.845A>C (p.Asp282Ala) c.647A>C (p.Asp216Ala) n.917A>C n.907A>C | ClinVar dbSNP |
2 | g.47414321A>G | CA022423 | MSH2 | c.845A>G (p.Asp282Gly) c.647A>G (p.Asp216Gly) n.917A>G n.907A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47414321A>T | CA346732827 | MSH2 | c.845A>T (p.Asp282Val) c.647A>T (p.Asp216Val) n.917A>T n.907A>T | dbSNP |
2 | g.47414321_47414324del | CA658683222 | MSH2 | c.845_848del (p.Asp282ValfsTer9) c.647_650del (p.Asp216ValfsTer9) n.917_920del n.907_910del | ClinVar dbSNP |
2 | g.47414322del | CA2697548098 | MSH2 | c.846del (p.Asp282GlufsTer10) c.648del (p.Asp216GlufsTer10) n.918del n.908del | ClinVar |
2 | g.47414322T>A | CA346732828 | MSH2 | c.846T>A (p.Asp282Glu) c.648T>A (p.Asp216Glu) n.918T>A n.908T>A | dbSNP |
2 | g.47414322T>C | CA425969872 | MSH2 | c.846T>C (p.Asp282=) c.648T>C (p.Asp216=) n.918T>C n.908T>C | ClinVar |
2 | g.47414322T>G | CA346732829 | MSH2 | c.846T>G (p.Asp282Glu) c.648T>G (p.Asp216Glu) n.918T>G n.908T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47414322T= | CA2495833964 | MSH2 | c.846T= (p.Asp282=) c.648T= (p.Asp216=) n.918T= n.908T= |