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.47412386G>A | CA2699121105 | MSH2 | c.646-28G>A (n.646-28G>A) c.448-28G>A (n.448-28G>A) n.718-28G>A n.708-28G>A | dbSNP |
2 | g.47412386G>C | CA2495832641 | MSH2 | c.646-28G>C (n.646-28G>C) c.448-28G>C (n.448-28G>C) n.718-28G>C n.708-28G>C | dbSNP |
2 | g.47412386G= | CA2495832640 | MSH2 | c.646-28G= (n.646-28G=) c.448-28G= (n.448-28G=) n.718-28G= n.708-28G= | |
2 | g.47412386G>T | CA2658946223 | MSH2 | c.646-28G>T (n.646-28G>T) c.448-28G>T (n.448-28G>T) n.718-28G>T n.708-28G>T | gnomAD v4 |
2 | g.47412387T>A | CA2699266878 | MSH2 | c.646-27T>A (n.646-27T>A) c.448-27T>A (n.448-27T>A) n.718-27T>A n.708-27T>A | dbSNP |
2 | g.47412389_47412393del | CA2749801325 | MSH2 | c.646-25_646-21del (n.646-25_646-21del) c.448-25_448-21del (n.448-25_448-21del) n.718-25_718-21del n.708-25_708-21del | |
2 | g.47412388A= | CA2495832642 | MSH2 | c.646-26A= (n.646-26A=) c.448-26A= (n.448-26A=) n.718-26A= n.708-26A= | |
2 | g.47412388A>C | CA2658946224 | MSH2 | c.646-26A>C (n.646-26A>C) c.448-26A>C (n.448-26A>C) n.718-26A>C n.708-26A>C | gnomAD v4 |
2 | g.47412388A>G | CA532705149 | MSH2 | c.646-26A>G (n.646-26A>G) c.448-26A>G (n.448-26A>G) n.718-26A>G n.708-26A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412388A>T | CA2699099890 | MSH2 | c.646-26A>T (n.646-26A>T) c.448-26A>T (n.448-26A>T) n.718-26A>T n.708-26A>T | dbSNP |
2 | g.47412389G= | CA2495832643 | MSH2 | c.646-25G= (n.646-25G=) c.448-25G= (n.448-25G=) n.718-25G= n.708-25G= | |
2 | g.47412389G>T | CA532705150 | MSH2 | c.646-25G>T (n.646-25G>T) c.448-25G>T (n.448-25G>T) n.718-25G>T n.708-25G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412391T>A | CA2699082441 | MSH2 | c.646-23T>A (n.646-23T>A) c.448-23T>A (n.448-23T>A) n.718-23T>A n.708-23T>A | dbSNP |
2 | g.47412391T>C | CA2658946225 | MSH2 | c.646-23T>C (n.646-23T>C) c.448-23T>C (n.448-23T>C) n.718-23T>C n.708-23T>C | dbSNP gnomAD v4 |
2 | g.47412391T>G | CA039834 | MSH2 | c.646-23T>G (n.646-23T>G) c.448-23T>G (n.448-23T>G) n.718-23T>G n.708-23T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412391T= | CA2495832644 | MSH2 | c.646-23T= (n.646-23T=) c.448-23T= (n.448-23T=) n.718-23T= n.708-23T= | |
2 | g.47412392T>C | CA2658946226 | MSH2 | c.646-22T>C (n.646-22T>C) c.448-22T>C (n.448-22T>C) n.718-22T>C n.708-22T>C | gnomAD v4 |
2 | g.47412393A= | CA2495832645 | MSH2 | c.646-21A= (n.646-21A=) c.448-21A= (n.448-21A=) n.718-21A= n.708-21A= | |
2 | g.47412393A>G | CA532705151 | MSH2 | c.646-21A>G (n.646-21A>G) c.448-21A>G (n.448-21A>G) n.718-21A>G n.708-21A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412393A>T | CA2576960701 | MSH2 | c.646-21A>T (n.646-21A>T) c.448-21A>T (n.448-21A>T) n.718-21A>T n.708-21A>T | dbSNP gnomAD v4 |
2 | g.47412395del | CA2699266889 | MSH2 | c.646-19del (n.646-19del) c.448-19del (n.448-19del) n.718-19del n.708-19del | dbSNP |
2 | g.47412394A>G | CA2573134696 | MSH2 | c.646-20A>G (n.646-20A>G) c.448-20A>G (n.448-20A>G) n.718-20A>G n.708-20A>G | ClinVar dbSNP |
2 | g.47412394A>T | CA2580066576 | MSH2 | c.646-20A>T (n.646-20A>T) c.448-20A>T (n.448-20A>T) n.718-20A>T n.708-20A>T | ClinVar |
2 | g.47412395A>T | CA2699266963 | MSH2 | c.646-19A>T (n.646-19A>T) c.448-19A>T (n.448-19A>T) n.718-19A>T n.708-19A>T | dbSNP |
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.47412396C= | CA2495832646 | MSH2 | c.646-18C= (n.646-18C=) c.448-18C= (n.448-18C=) n.718-18C= n.708-18C= | |
2 | g.47412396C>G | CA039826 | MSH2 | c.646-18C>G (n.646-18C>G) c.448-18C>G (n.448-18C>G) n.718-18C>G n.708-18C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412396C>T | CA2658946227 | MSH2 | c.646-18C>T (n.646-18C>T) c.448-18C>T (n.448-18C>T) n.718-18C>T n.708-18C>T | dbSNP gnomAD v4 |
2 | g.47412397T>C | CA2699266984 | MSH2 | c.646-17T>C (n.646-17T>C) c.448-17T>C (n.448-17T>C) n.718-17T>C n.708-17T>C | dbSNP |
2 | g.47412397T>G | CA2699266970 | MSH2 | c.646-17T>G (n.646-17T>G) c.448-17T>G (n.448-17T>G) n.718-17T>G n.708-17T>G | dbSNP |
2 | g.47412398A= | CA2495832647 | MSH2 | c.646-16A= (n.646-16A=) c.448-16A= (n.448-16A=) n.718-16A= n.708-16A= | |
2 | g.47412398A>C | CA2658946228 | MSH2 | c.646-16A>C (n.646-16A>C) c.448-16A>C (n.448-16A>C) n.718-16A>C n.708-16A>C | gnomAD v4 |
2 | g.47412398A>G | CA16604223 | MSH2 | c.646-16A>G (n.646-16A>G) c.448-16A>G (n.448-16A>G) n.718-16A>G n.708-16A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412398A>T | CA021666 | MSH2 | c.646-16A>T (n.646-16A>T) c.448-16A>T (n.448-16A>T) n.718-16A>T n.708-16A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412398_47412400delinsATT | CA2495832648 | MSH2 | c.646-16_646-14delinsATT (n.646-16_646-14delinsATT) c.448-16_448-14delinsATT (n.448-16_448-14delinsATT) n.718-16_718-14delinsATT n.708-16_708-14delinsATT | |
2 | g.47412399T>C | CA039801 | MSH2 | c.646-15T>C (n.646-15T>C) c.448-15T>C (n.448-15T>C) n.718-15T>C n.708-15T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412399T= | CA2495832649 | MSH2 | c.646-15T= (n.646-15T=) c.448-15T= (n.448-15T=) n.718-15T= n.708-15T= | |
2 | g.47412400_47412401del | CA658683201 | MSH2 | c.646-14_646-13del (n.646-14_646-13del) c.448-14_448-13del (n.448-14_448-13del) n.718-14_718-13del n.708-14_708-13del | ClinVar dbSNP |
2 | g.47412401T>C | CA039794 | MSH2 | c.646-13T>C (n.646-13T>C) c.448-13T>C (n.448-13T>C) n.718-13T>C n.708-13T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412401T= | CA2495832650 | MSH2 | c.646-13T= (n.646-13T=) c.448-13T= (n.448-13T=) n.718-13T= n.708-13T= | |
2 | g.47412402C>A | CA2658946229 | MSH2 | c.646-12C>A (n.646-12C>A) c.448-12C>A (n.448-12C>A) n.718-12C>A n.708-12C>A | gnomAD v4 |
2 | g.47412402C>G | CA2499215986 | MSH2 | c.646-12C>G (n.646-12C>G) c.448-12C>G (n.448-12C>G) n.718-12C>G n.708-12C>G | ClinVar dbSNP |
2 | g.47412402C>T | CA2697548108 | MSH2 | c.646-12C>T (n.646-12C>T) c.448-12C>T (n.448-12C>T) n.718-12C>T n.708-12C>T | ClinVar dbSNP |
2 | g.47412403T>C | CA10584208 | MSH2 | c.646-11T>C (n.646-11T>C) c.448-11T>C (n.448-11T>C) n.718-11T>C n.708-11T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412403T= | CA2495832651 | MSH2 | c.646-11T= (n.646-11T=) c.448-11T= (n.448-11T=) n.718-11T= n.708-11T= | |
2 | g.47412403_47412417delinsTTTCAAAATAGATAA | CA2495832652 | MSH2 | c.646-11_649delinsTTTCAAAATAGATAA c.448-11_451delinsTTTCAAAATAGATAA n.718-11_721delinsTTTCAAAATAGATAA n.708-11_711delinsTTTCAAAATAGATAA | |
2 | g.47412404T>C | CA2658946230 | MSH2 | c.646-10T>C (n.646-10T>C) c.448-10T>C (n.448-10T>C) n.718-10T>C n.708-10T>C | dbSNP gnomAD v4 |
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.47412405T>A | CA2699267406 | MSH2 | c.646-9T>A (n.646-9T>A) c.448-9T>A (n.448-9T>A) n.718-9T>A n.708-9T>A | dbSNP |
2 | g.47412405_47412406delinsTC | CA2495832653 | MSH2 | c.646-9_646-8delinsTC (n.646-9_646-8delinsTC) c.448-9_448-8delinsTC (n.448-9_448-8delinsTC) n.718-9_718-8delinsTC n.708-9_708-8delinsTC | |
2 | g.47412406del | CA10581998 | MSH2 | c.646-8del (n.646-8del) c.448-8del (n.448-8del) n.718-8del n.708-8del | ClinVar dbSNP |
2 | g.47412406C>A | CA2495832655 | MSH2 | c.646-8C>A (n.646-8C>A) c.448-8C>A (n.448-8C>A) n.718-8C>A n.708-8C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412406C= | CA2495832654 | MSH2 | c.646-8C= (n.646-8C=) c.448-8C= (n.448-8C=) n.718-8C= n.708-8C= | |
2 | g.47412406C>G | CA2658946231 | MSH2 | c.646-8C>G (n.646-8C>G) c.448-8C>G (n.448-8C>G) n.718-8C>G n.708-8C>G | dbSNP gnomAD v4 |
2 | g.47412406C>T | CA2580066587 | MSH2 | c.646-8C>T (n.646-8C>T) c.448-8C>T (n.448-8C>T) n.718-8C>T n.708-8C>T | ClinVar gnomAD v4 |
2 | g.47412410dup | CA658655702 | MSH2 | c.646-4dup (n.646-4dup) c.448-4dup (n.448-4dup) n.718-4dup n.708-4dup | 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.47412408A= | CA2495832657 | MSH2 | c.646-6A= (n.646-6A=) c.448-6A= (n.448-6A=) n.718-6A= n.708-6A= | |
2 | g.47412408A>G | CA658683202 | MSH2 | c.646-6A>G (n.646-6A>G) c.448-6A>G (n.448-6A>G) n.718-6A>G n.708-6A>G | ClinVar dbSNP |
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.47412409A= | CA2495832659 | MSH2 | c.646-5A= (n.646-5A=) c.448-5A= (n.448-5A=) n.718-5A= n.708-5A= | |
2 | g.47412409A>C | CA2573134697 | MSH2 | c.646-5A>C (n.646-5A>C) c.448-5A>C (n.448-5A>C) n.718-5A>C n.708-5A>C | ClinVar dbSNP |
2 | g.47412409A>G | CA2825001152 | MSH2 | c.646-5A>G (n.646-5A>G) c.448-5A>G (n.448-5A>G) n.718-5A>G n.708-5A>G | ClinVar |
2 | g.47412409A>T | CA532705152 | MSH2 | c.646-5A>T (n.646-5A>T) c.448-5A>T (n.448-5A>T) n.718-5A>T n.708-5A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412409_47412413delinsAATAG | CA2495832658 | MSH2 | c.646-5_646-1delinsAATAG (n.646-5_646-1delinsAATAG) c.448-5_448-1delinsAATAG (n.448-5_448-1delinsAATAG) n.718-5_718-1delinsAATAG n.708-5_708-1delinsAATAG | |
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.47412410A= | CA2495832660 | MSH2 | c.646-4A= (n.646-4A=) c.448-4A= (n.448-4A=) n.718-4A= n.708-4A= | |
2 | g.47412410A>G | CA021683 | MSH2 | c.646-4A>G (n.646-4A>G) c.448-4A>G (n.448-4A>G) n.718-4A>G n.708-4A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412410A>T | CA2699080523 | MSH2 | c.646-4A>T (n.646-4A>T) c.448-4A>T (n.448-4A>T) n.718-4A>T n.708-4A>T | dbSNP |
2 | g.47412413_47412416del | CA645372531 | MSH2 | c.646-1_648del c.448-1_450del n.718-1_720del n.708-1_710del | 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.47412411T>A | CA2699076647 | MSH2 | c.646-3T>A (n.646-3T>A) c.448-3T>A (n.448-3T>A) n.718-3T>A n.708-3T>A | dbSNP |
2 | g.47412411T>C | CA039878 | MSH2 | c.646-3T>C (n.646-3T>C) c.448-3T>C (n.448-3T>C) n.718-3T>C n.708-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412411T>G | CA021679 | MSH2 | c.646-3T>G (n.646-3T>G) c.448-3T>G (n.448-3T>G) n.718-3T>G n.708-3T>G | ClinVar dbSNP |
2 | g.47412411T= | CA2495832661 | MSH2 | c.646-3T= (n.646-3T=) c.448-3T= (n.448-3T=) n.718-3T= n.708-3T= | |
2 | g.47412412A= | CA2495832662 | MSH2 | c.646-2A= (n.646-2A=) c.448-2A= (n.448-2A=) n.718-2A= n.708-2A= | |
2 | g.47412412A>C | CA346731597 | MSH2 | c.646-2A>C (n.646-2A>C) c.448-2A>C (n.448-2A>C) n.718-2A>C n.708-2A>C | ClinVar dbSNP |
2 | g.47412412A>G | CA021672 | MSH2 | c.646-2A>G (n.646-2A>G) c.448-2A>G (n.448-2A>G) n.718-2A>G n.708-2A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412412A>T | CA346731602 | MSH2 | c.646-2A>T (n.646-2A>T) c.448-2A>T (n.448-2A>T) n.718-2A>T n.708-2A>T | ClinVar dbSNP COSMIC |
2 | g.47412413G>A | CA346731606 | MSH2 | c.646-1G>A (n.646-1G>A) c.448-1G>A (n.448-1G>A) n.718-1G>A n.708-1G>A | ClinVar dbSNP |
2 | g.47412413G>C | CA346731609 | MSH2 | c.646-1G>C (n.646-1G>C) c.448-1G>C (n.448-1G>C) n.718-1G>C n.708-1G>C | ClinVar dbSNP |
2 | g.47412413G= | CA2495832663 | MSH2 | c.646-1G= (n.646-1G=) c.448-1G= (n.448-1G=) n.718-1G= n.708-1G= | |
2 | g.47412413G>T | CA346731612 | MSH2 | c.646-1G>T (n.646-1G>T) c.448-1G>T (n.448-1G>T) n.718-1G>T n.708-1G>T | ClinVar dbSNP COSMIC |
2 | g.47412413_47412416delinsGATA | CA2495832664 | MSH2 | c.646-1_648delinsGATA c.448-1_450delinsGATA n.718-1_720delinsGATA n.708-1_710delinsGATA | |
2 | g.47412414A= | CA2495832665 | MSH2 | c.646A= (p.Ile216=) c.448A= (p.Ile150=) n.718A= n.708A= | |
2 | g.47412414A>C | CA039951 | MSH2 | c.646A>C (p.Ile216Leu) c.448A>C (p.Ile150Leu) n.718A>C n.708A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412414A>G | CA021692 | MSH2 | c.646A>G (p.Ile216Val) c.448A>G (p.Ile150Val) n.718A>G n.708A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412414A>T | CA346731616 | MSH2 | c.646A>T (p.Ile216Leu) c.448A>T (p.Ile150Leu) n.718A>T n.708A>T | ClinVar dbSNP |
2 | g.47412415_47412416dup | CA2586969187 | MSH2 | c.647_648dup (p.Ile217Ter) c.449_450dup (p.Ile151Ter) n.719_720dup n.709_710dup | |
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.47412415del | CA2576960719 | MSH2 | c.647del (p.Ile216LysfsTer8) c.449del (p.Ile150LysfsTer8) n.719del n.709del | ClinVar |
2 | g.47412415T>A | CA346731625 | MSH2 | c.647T>A (p.Ile216Lys) c.449T>A (p.Ile150Lys) n.719T>A n.709T>A | |
2 | g.47412415T>C | CA021697 | MSH2 | c.647T>C (p.Ile216Thr) c.449T>C (p.Ile150Thr) n.719T>C n.709T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412415T>G | CA346731629 | MSH2 | c.647T>G (p.Ile216Arg) c.449T>G (p.Ile150Arg) n.719T>G n.709T>G | |
2 | g.47412415T= | CA2495832667 | MSH2 | c.647T= (p.Ile216=) c.449T= (p.Ile150=) n.719T= n.709T= | |
2 | g.47412415dup | CA2580066599 | MSH2 | c.647dup (p.Ile217AsnfsTer15) c.449dup (p.Ile151AsnfsTer15) n.719dup n.709dup | ClinVar |
2 | g.47412415_47412420delinsTAATTC | CA2495832666 | MSH2 | c.647_652delinsTAATTC (p.Ile216=) c.449_454delinsTAATTC (p.Ile150=) n.719_724delinsTAATTC n.709_714delinsTAATTC | |
2 | g.47412415_47412416insTG | CA2580066602 | MSH2 | c.647_648insTG (p.Ile217GlufsTer8) c.449_450insTG (p.Ile151GlufsTer8) n.719_720insTG n.709_710insTG | ClinVar |
2 | g.47412416A= | CA2495832668 | MSH2 | c.648A= (p.Ile216=) c.450A= (p.Ile150=) n.720A= n.710A= | |
2 | g.47412416A>C | CA425967217 | MSH2 | c.648A>C (p.Ile216=) c.450A>C (p.Ile150=) n.720A>C n.710A>C | |
2 | g.47412416A>G | CA346731632 | MSH2 | c.648A>G (p.Ile216Met) c.450A>G (p.Ile150Met) n.720A>G n.710A>G | |
2 | g.47412416A>T | CA425967234 | MSH2 | c.648A>T (p.Ile216=) c.450A>T (p.Ile150=) n.720A>T n.710A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412417dup | CA2586969189 | MSH2 | c.649dup (p.Ile217AsnfsTer15) c.451dup (p.Ile151AsnfsTer15) n.721dup n.711dup | |
2 | g.47412416_47412417dup | CA2580066603 | MSH2 | c.648_649dup (p.Ile217LysfsTer8) c.450_451dup (p.Ile151LysfsTer8) n.720_721dup n.710_711dup | ClinVar |
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.47412417A= | CA2495832669 | MSH2 | c.649A= (p.Ile217=) c.451A= (p.Ile151=) n.721A= n.711A= | |
2 | g.47412417A>C | CA346731637 | MSH2 | c.649A>C (p.Ile217Leu) c.451A>C (p.Ile151Leu) n.721A>C n.711A>C | dbSNP |
2 | g.47412417A>G | CA039965 | MSH2 | c.649A>G (p.Ile217Val) c.451A>G (p.Ile151Val) n.721A>G n.711A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412417A>T | CA346731639 | MSH2 | c.649A>T (p.Ile217Phe) c.451A>T (p.Ile151Phe) n.721A>T n.711A>T | |
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 | ClinVar 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 |
2 | g.47412427G>C | CA346731707 | MSH2 | c.659G>C (p.Gly220Ala) c.461G>C (p.Gly154Ala) n.731G>C n.721G>C | dbSNP |
2 | g.47412427G= | CA2495832676 | MSH2 | c.659G= (p.Gly220=) c.461G= (p.Gly154=) n.731G= n.721G= | |
2 | g.47412427G>T | CA346731705 | MSH2 | c.659G>T (p.Gly220Val) c.461G>T (p.Gly154Val) n.731G>T n.721G>T | dbSNP COSMIC |
2 | g.47412427_47412429delinsAAT | CA2580612944 | MSH2 | c.659_661delinsAAT (p.Gly220GlufsTer2) c.461_463delinsAAT (p.Gly154GlufsTer2) n.731_733delinsAAT n.721_723delinsAAT | ClinVar |
2 | g.47412428A= | CA2495832677 | MSH2 | c.660A= (p.Gly220=) c.462A= (p.Gly154=) n.732A= n.722A= | |
2 | g.47412428A>C | CA425967308 | MSH2 | c.660A>C (p.Gly220=) c.462A>C (p.Gly154=) n.732A>C n.722A>C | ClinVar |
2 | g.47412428A>G | CA425967311 | MSH2 | c.660A>G (p.Gly220=) c.462A>G (p.Gly154=) n.732A>G n.722A>G | |
2 | g.47412428A>T | CA425967307 | MSH2 | c.660A>T (p.Gly220=) c.462A>T (p.Gly154=) n.732A>T n.722A>T | ClinVar dbSNP |
2 | g.47412429G>A | CA346731712 | MSH2 | c.661G>A (p.Gly221Arg) c.463G>A (p.Gly155Arg) n.733G>A n.723G>A | ClinVar dbSNP |
2 | g.47412429G>C | CA346731713 | MSH2 | c.661G>C (p.Gly221Arg) c.463G>C (p.Gly155Arg) n.733G>C n.723G>C | ClinVar dbSNP COSMIC |
2 | g.47412429G= | CA2495832678 | MSH2 | c.661G= (p.Gly221=) c.463G= (p.Gly155=) n.733G= n.723G= | |
2 | g.47412429G>T | CA346731717 | MSH2 | c.661G>T (p.Gly221Ter) c.463G>T (p.Gly155Ter) n.733G>T n.723G>T | |
2 | g.47412430del | CA2573134698 | MSH2 | c.662del (p.Gly221GlufsTer3) c.464del (p.Gly155GlufsTer3) n.734del n.724del | dbSNP |
2 | g.47412430G>A | CA346731720 | MSH2 | c.662G>A (p.Gly221Glu) c.464G>A (p.Gly155Glu) n.734G>A n.724G>A | ClinVar dbSNP |
2 | g.47412430G>C | CA346731723 | MSH2 | c.662G>C (p.Gly221Ala) c.464G>C (p.Gly155Ala) n.734G>C n.724G>C | dbSNP |
2 | g.47412430G= | CA2495832679 | MSH2 | c.662G= (p.Gly221=) c.464G= (p.Gly155=) n.734G= n.724G= | |
2 | g.47412430G>T | CA346731725 | MSH2 | c.662G>T (p.Gly221Val) c.464G>T (p.Gly155Val) n.734G>T n.724G>T | COSMIC |
2 | g.47412431A= | CA2495832680 | MSH2 | c.663A= (p.Gly221=) c.465A= (p.Gly155=) n.735A= n.725A= | |
2 | g.47412431A>C | CA425967325 | MSH2 | c.663A>C (p.Gly221=) c.465A>C (p.Gly155=) n.735A>C n.725A>C | |
2 | g.47412431A>G | CA425967326 | MSH2 | c.663A>G (p.Gly221=) c.465A>G (p.Gly155=) n.735A>G n.725A>G | ClinVar dbSNP |
2 | g.47412431A>T | CA425967328 | MSH2 | c.663A>T (p.Gly221=) c.465A>T (p.Gly155=) n.735A>T n.725A>T | dbSNP |
2 | g.47412432del | CA425967331 | MSH2 | c.664del (p.Ile222PhefsTer2) c.466del (p.Ile156PhefsTer2) n.736del n.726del | COSMIC |
2 | g.47412432A= | CA2495832681 | MSH2 | c.664A= (p.Ile222=) c.466A= (p.Ile156=) n.736A= n.726A= | |
2 | g.47412432A>C | CA346731730 | MSH2 | c.664A>C (p.Ile222Leu) c.466A>C (p.Ile156Leu) n.736A>C n.726A>C | COSMIC |
2 | g.47412432A>G | CA346731733 | MSH2 | c.664A>G (p.Ile222Val) c.466A>G (p.Ile156Val) n.736A>G n.726A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412432A>T | CA039981 | MSH2 | c.664A>T (p.Ile222Phe) c.466A>T (p.Ile156Phe) n.736A>T n.726A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412433T>A | CA346731739 | MSH2 | c.665T>A (p.Ile222Asn) c.467T>A (p.Ile156Asn) n.737T>A n.727T>A | dbSNP |
2 | g.47412433T>C | CA16617559 | MSH2 | c.665T>C (p.Ile222Thr) c.467T>C (p.Ile156Thr) n.737T>C n.727T>C | ClinVar dbSNP |
2 | g.47412433T>G | CA346731744 | MSH2 | c.665T>G (p.Ile222Ser) c.467T>G (p.Ile156Ser) n.737T>G n.727T>G | |
2 | g.47412433T= | CA2495832682 | MSH2 | c.665T= (p.Ile222=) c.467T= (p.Ile156=) n.737T= n.727T= | |
2 | g.47412433_47412456dup | CA2580066622 | MSH2 | c.665_688dup (p.Lys229_Ala230insValLeuIleThrGluArgLysLys) c.467_490dup (p.Lys163_Ala164insValLeuIleThrGluArgLysLys) n.737_760dup n.727_750dup | ClinVar |
2 | g.47412434T>A | CA425967342 | MSH2 | c.666T>A (p.Ile222=) c.468T>A (p.Ile156=) n.738T>A n.728T>A | dbSNP |
2 | g.47412434T>C | CA425967344 | MSH2 | c.666T>C (p.Ile222=) c.468T>C (p.Ile156=) n.738T>C n.728T>C | |
2 | g.47412434T>G | CA346731747 | MSH2 | c.666T>G (p.Ile222Met) c.468T>G (p.Ile156Met) n.738T>G n.728T>G | |
2 | g.47412435C>A | CA346731751 | MSH2 | c.667C>A (p.Leu223Met) c.469C>A (p.Leu157Met) n.739C>A n.729C>A | |
2 | g.47412435C= | CA2495832683 | MSH2 | c.667C= (p.Leu223=) c.469C= (p.Leu157=) n.739C= n.729C= | |
2 | g.47412435C>G | CA346731750 | MSH2 | c.667C>G (p.Leu223Val) c.469C>G (p.Leu157Val) n.739C>G n.729C>G | ClinVar dbSNP |
2 | g.47412435C>T | CA425967354 | MSH2 | c.667C>T (p.Leu223=) c.469C>T (p.Leu157=) n.739C>T n.729C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412436T>A | CA346731754 | MSH2 | c.668T>A (p.Leu223Gln) c.470T>A (p.Leu157Gln) n.740T>A n.730T>A | |
2 | g.47412436T>C | CA16610792 | MSH2 | c.668T>C (p.Leu223Pro) c.470T>C (p.Leu157Pro) n.740T>C n.730T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47412436T>G | CA346731759 | MSH2 | c.668T>G (p.Leu223Arg) c.470T>G (p.Leu157Arg) n.740T>G n.730T>G | |
2 | g.47412436T= | CA2495832684 | MSH2 | c.668T= (p.Leu223=) c.470T= (p.Leu157=) n.740T= n.730T= | |
2 | g.47412437G>A | CA039993 | MSH2 | c.669G>A (p.Leu223=) c.471G>A (p.Leu157=) n.741G>A n.731G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412437G>C | CA425967367 | MSH2 | c.669G>C (p.Leu223=) c.471G>C (p.Leu157=) n.741G>C n.731G>C | dbSNP gnomAD v4 |
2 | g.47412437G= | CA2495832685 | MSH2 | c.669G= (p.Leu223=) c.471G= (p.Leu157=) n.741G= n.731G= | |
2 | g.47412437G>T | CA425967370 | MSH2 | c.669G>T (p.Leu223=) c.471G>T (p.Leu157=) n.741G>T n.731G>T | dbSNP |
2 | g.47412438A>C | CA346731769 | MSH2 | c.670A>C (p.Ile224Leu) c.472A>C (p.Ile158Leu) n.742A>C n.732A>C | |
2 | g.47412438A>G | CA346731772 | MSH2 | c.670A>G (p.Ile224Val) c.472A>G (p.Ile158Val) n.742A>G n.732A>G | ClinVar |
2 | g.47412438A>T | CA346731774 | MSH2 | c.670A>T (p.Ile224Phe) c.472A>T (p.Ile158Phe) n.742A>T n.732A>T | dbSNP |
2 | g.47412439T>A | CA346731778 | MSH2 | c.671T>A (p.Ile224Asn) c.473T>A (p.Ile158Asn) n.743T>A n.733T>A | dbSNP |
2 | g.47412439T>C | CA346731788 | MSH2 | c.671T>C (p.Ile224Thr) c.473T>C (p.Ile158Thr) n.743T>C n.733T>C | |
2 | g.47412439T>G | CA346731789 | MSH2 | c.671T>G (p.Ile224Ser) c.473T>G (p.Ile158Ser) n.743T>G n.733T>G | ClinVar dbSNP |
2 | g.47412439T= | CA2495832686 | MSH2 | c.671T= (p.Ile224=) c.473T= (p.Ile158=) n.743T= n.733T= | |
2 | g.47412440C>A | CA425967385 | MSH2 | c.672C>A (p.Ile224=) c.474C>A (p.Ile158=) n.744C>A n.734C>A | dbSNP gnomAD v4 |
2 | g.47412440C= | CA2495832687 | MSH2 | c.672C= (p.Ile224=) c.474C= (p.Ile158=) n.744C= n.734C= | |
2 | g.47412440C>G | CA021724 | MSH2 | c.672C>G (p.Ile224Met) c.474C>G (p.Ile158Met) n.744C>G n.734C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412440C>T | CA16604518 | MSH2 | c.672C>T (p.Ile224=) c.474C>T (p.Ile158=) n.744C>T n.734C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412441A>C | CA346731795 | MSH2 | c.673A>C (p.Thr225Pro) c.475A>C (p.Thr159Pro) n.745A>C n.735A>C | ClinVar |
2 | g.47412441A>G | CA346731798 | MSH2 | c.673A>G (p.Thr225Ala) c.475A>G (p.Thr159Ala) n.745A>G n.735A>G | ClinVar dbSNP |
2 | g.47412441A>T | CA346731801 | MSH2 | c.673A>T (p.Thr225Ser) c.475A>T (p.Thr159Ser) n.745A>T n.735A>T | dbSNP |
2 | g.47412442del | CA2695200757 | MSH2 | c.674del (p.Thr225LysfsTer21) c.476del (p.Thr159LysfsTer21) n.746del n.736del | ClinVar |
2 | g.47412442C>A | CA346731806 | MSH2 | c.674C>A (p.Thr225Lys) c.476C>A (p.Thr159Lys) n.746C>A n.736C>A | dbSNP |
2 | g.47412442C= | CA2495832690 | MSH2 | c.674C= (p.Thr225=) c.476C= (p.Thr159=) n.746C= n.736C= | |
2 | g.47412442C>G | CA346731808 | MSH2 | c.674C>G (p.Thr225Arg) c.476C>G (p.Thr159Arg) n.746C>G n.736C>G | ClinVar dbSNP |
2 | g.47412442C>T | CA346731803 | MSH2 | c.674C>T (p.Thr225Ile) c.476C>T (p.Thr159Ile) n.746C>T n.736C>T | ClinVar dbSNP |
2 | g.47412442_47412446delinsCAGAA | CA2495832689 | MSH2 | c.674_678delinsCAGAA (p.Thr225=) c.476_480delinsCAGAA (p.Thr159=) n.746_750delinsCAGAA n.736_740delinsCAGAA | |
2 | g.47412442_47412447delinsCAGAAA | CA2495832688 | MSH2 | c.674_679delinsCAGAAA (p.Thr225=) c.476_481delinsCAGAAA (p.Thr159=) n.746_751delinsCAGAAA n.736_741delinsCAGAAA | |
2 | g.47412443A>C | CA425967410 | MSH2 | c.675A>C (p.Thr225=) c.477A>C (p.Thr159=) n.747A>C n.737A>C | |
2 | g.47412443A>G | CA425967408 | MSH2 | c.675A>G (p.Thr225=) c.477A>G (p.Thr159=) n.747A>G n.737A>G | ClinVar |
2 | g.47412443A>T | CA425967405 | MSH2 | c.675A>T (p.Thr225=) c.477A>T (p.Thr159=) n.747A>T n.737A>T | |
2 | g.47412443_47412447delinsTAAT | CA021733 | MSH2 | c.675_679delinsTAAT (p.Glu226AsnfsTer20) c.477_481delinsTAAT (p.Glu160AsnfsTer20) n.747_751delinsTAAT n.737_741delinsTAAT | ClinVar dbSNP |
2 | g.47412448_47412451del | CA021730 | MSH2 | c.680_683del (p.Arg227LysfsTer18) c.482_485del (p.Arg161LysfsTer18) n.752_755del n.742_745del | ClinVar dbSNP |
2 | g.47412444G>A | CA346731814 | MSH2 | c.676G>A (p.Glu226Lys) c.478G>A (p.Glu160Lys) n.748G>A n.738G>A | ClinVar dbSNP |
2 | g.47412444G>C | CA346731817 | MSH2 | c.676G>C (p.Glu226Gln) c.478G>C (p.Glu160Gln) n.748G>C n.738G>C | dbSNP |
2 | g.47412444G>T | CA346731820 | MSH2 | c.676G>T (p.Glu226Ter) c.478G>T (p.Glu160Ter) n.748G>T n.738G>T | ClinVar |
2 | g.47412444_47412445delinsGA | CA2495832691 | MSH2 | c.676_677delinsGA (p.Glu226=) c.478_479delinsGA (p.Glu160=) n.748_749delinsGA n.738_739delinsGA | |
2 | g.47412445A= | CA2495832692 | MSH2 | c.677A= (p.Glu226=) c.479A= (p.Glu160=) n.749A= n.739A= | |
2 | g.47412445A>C | CA346731824 | MSH2 | c.677A>C (p.Glu226Ala) c.479A>C (p.Glu160Ala) n.749A>C n.739A>C | |
2 | g.47412445A>G | CA346731826 | MSH2 | c.677A>G (p.Glu226Gly) c.479A>G (p.Glu160Gly) n.749A>G n.739A>G | ClinVar dbSNP |
2 | g.47412445A>T | CA346731828 | MSH2 | c.677A>T (p.Glu226Val) c.479A>T (p.Glu160Val) n.749A>T n.739A>T | |
2 | g.47412447dup | CA2586969192 | MSH2 | c.679dup (p.Arg227LysfsTer5) c.481dup (p.Arg161LysfsTer5) n.751dup n.741dup | |
2 | g.47412447del | CA915943887 | MSH2 | c.679del (p.Arg227GlufsTer19) c.481del (p.Arg161GlufsTer19) n.751del n.741del | ClinVar dbSNP |
2 | g.47412446A>C | CA346731832 | MSH2 | c.678A>C (p.Glu226Asp) c.480A>C (p.Glu160Asp) n.750A>C n.740A>C | |
2 | g.47412446A>G | CA425967425 | MSH2 | c.678A>G (p.Glu226=) c.480A>G (p.Glu160=) n.750A>G n.740A>G | |
2 | g.47412446A>T | CA346731835 | MSH2 | c.678A>T (p.Glu226Asp) c.480A>T (p.Glu160Asp) n.750A>T n.740A>T | dbSNP |
2 | g.47412446_47412448delinsAAG | CA2495832693 | MSH2 | c.678_680delinsAAG (p.Glu226=) c.480_482delinsAAG (p.Glu160=) n.750_752delinsAAG n.740_742delinsAAG | |
2 | g.47412447A= | CA2495832694 | MSH2 | c.679A= (p.Arg227=) c.481A= (p.Arg161=) n.751A= n.741A= | |
2 | g.47412447A>C | CA425967429 | MSH2 | c.679A>C (p.Arg227=) c.481A>C (p.Arg161=) n.751A>C n.741A>C | |
2 | g.47412447A>G | CA040008 | MSH2 | c.679A>G (p.Arg227Gly) c.481A>G (p.Arg161Gly) n.751A>G n.741A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412447A>T | CA346731838 | MSH2 | c.679A>T (p.Arg227Ter) c.481A>T (p.Arg161Ter) n.751A>T n.741A>T | ClinVar |
2 | g.47412448_47412449del | CA913187974 | MSH2 | c.680_681del (p.Arg227LysfsTer4) c.482_483del (p.Arg161LysfsTer4) n.752_753del n.742_743del | ClinVar dbSNP |
2 | g.47412448del | CA2580066636 | MSH2 | c.680del (p.Arg227LysfsTer19) c.482del (p.Arg161LysfsTer19) n.752del n.742del | ClinVar |
2 | g.47412448G>A | CA346731845 | MSH2 | c.680G>A (p.Arg227Lys) c.482G>A (p.Arg161Lys) n.752G>A n.742G>A | ClinVar |
2 | g.47412448G>C | CA346731847 | MSH2 | c.680G>C (p.Arg227Thr) c.482G>C (p.Arg161Thr) n.752G>C n.742G>C | |
2 | g.47412448G>T | CA346731849 | MSH2 | c.680G>T (p.Arg227Ile) c.482G>T (p.Arg161Ile) n.752G>T n.742G>T | ClinVar |
2 | g.47412448dup | CA2580612945 | MSH2 | c.680dup (p.Ala230SerfsTer2) c.482dup (p.Ala164SerfsTer2) n.752dup n.742dup | ClinVar |
2 | g.47412448_47412450delinsGAA | CA2495832695 | MSH2 | c.680_682delinsGAA (p.Arg227=) c.482_484delinsGAA (p.Arg161=) n.752_754delinsGAA n.742_744delinsGAA | |
2 | g.47412449A= | CA2495832696 | MSH2 | c.681A= (p.Arg227=) c.483A= (p.Arg161=) n.753A= n.743A= | |
2 | g.47412449A>C | CA10577944 | MSH2 | c.681A>C (p.Arg227Ser) c.483A>C (p.Arg161Ser) n.753A>C n.743A>C | ClinVar dbSNP |
2 | g.47412449A>G | CA425967445 | MSH2 | c.681A>G (p.Arg227=) c.483A>G (p.Arg161=) n.753A>G n.743A>G | |
2 | g.47412449A>T | CA346731861 | MSH2 | c.681A>T (p.Arg227Ser) c.483A>T (p.Arg161Ser) n.753A>T n.743A>T | ClinVar dbSNP |
2 | g.47412449_47412450delinsC | CA2580066862 | MSH2 | c.681_682delinsC (p.Arg227SerfsTer19) c.483_484delinsC (p.Arg161SerfsTer19) n.753_754delinsC n.743_744delinsC | ClinVar |
2 | g.47412455dup | CA021991 | MSH2 | c.687dup (p.Ala230SerfsTer2) c.489dup (p.Ala164SerfsTer2) n.759dup n.749dup | ClinVar dbSNP gnomAD v4 |
2 | g.47412455del | CA021998 | MSH2 | c.687del (p.Ala230LeufsTer16) c.489del (p.Ala164LeufsTer16) n.759del n.749del | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47412454_47412455del | CA021960 | MSH2 | c.686_687del (p.Lys229SerfsTer2) c.488_489del (p.Lys163SerfsTer2) n.758_759del n.748_749del | ClinVar dbSNP |
2 | g.47412452_47412455del | CA2580066865 | MSH2 | c.684_687del (p.Lys229LeufsTer16) c.486_489del (p.Lys163LeufsTer16) n.756_759del n.746_749del | ClinVar |
2 | g.47412449_47412457delinsGAAAAAGG | CA2580066864 | MSH2 | c.681_689delinsGAAAAAGG (p.Ala230ValfsTer16) c.483_491delinsGAAAAAGG (p.Ala164ValfsTer16) n.753_761delinsGAAAAAGG n.743_751delinsGAAAAAGG | ClinVar |
2 | g.47412450A= | CA2495832697 | MSH2 | c.682A= (p.Lys228=) c.484A= (p.Lys162=) n.754A= n.744A= | |
2 | g.47412450A>C | CA346731864 | MSH2 | c.682A>C (p.Lys228Gln) c.484A>C (p.Lys162Gln) n.754A>C n.744A>C | gnomAD v4 |
2 | g.47412450A>G | CA040044 | MSH2 | c.682A>G (p.Lys228Glu) c.484A>G (p.Lys162Glu) n.754A>G n.744A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412450A>T | CA346731867 | MSH2 | c.682A>T (p.Lys228Ter) c.484A>T (p.Lys162Ter) n.754A>T n.744A>T | dbSNP |
2 | g.47412451A>C | CA346731874 | MSH2 | c.683A>C (p.Lys228Thr) c.485A>C (p.Lys162Thr) n.755A>C n.745A>C | |
2 | g.47412451A>G | CA346731875 | MSH2 | c.683A>G (p.Lys228Arg) c.485A>G (p.Lys162Arg) n.755A>G n.745A>G | |
2 | g.47412451A>T | CA346731871 | MSH2 | c.683A>T (p.Lys228Ile) c.485A>T (p.Lys162Ile) n.755A>T n.745A>T | |
2 | g.47412452A>C | CA346731876 | MSH2 | c.684A>C (p.Lys228Asn) c.486A>C (p.Lys162Asn) n.756A>C n.746A>C | |
2 | g.47412452A>G | CA425967472 | MSH2 | c.684A>G (p.Lys228=) c.486A>G (p.Lys162=) n.756A>G n.746A>G | |
2 | g.47412452A>T | CA346731877 | MSH2 | c.684A>T (p.Lys228Asn) c.486A>T (p.Lys162Asn) n.756A>T n.746A>T | dbSNP |
2 | g.47412453A= | CA2495832698 | MSH2 | c.685A= (p.Lys229=) c.487A= (p.Lys163=) n.757A= n.747A= | |
2 | g.47412453A>C | CA346731878 | MSH2 | c.685A>C (p.Lys229Gln) c.487A>C (p.Lys163Gln) n.757A>C n.747A>C | |
2 | g.47412453A>G | CA346731880 | MSH2 | c.685A>G (p.Lys229Glu) c.487A>G (p.Lys163Glu) n.757A>G n.747A>G | |
2 | g.47412453A>T | CA021947 | MSH2 | c.685A>T (p.Lys229Ter) c.487A>T (p.Lys163Ter) n.757A>T n.747A>T | ClinVar dbSNP |
2 | g.47412454A>C | CA346731887 | MSH2 | c.686A>C (p.Lys229Thr) c.488A>C (p.Lys163Thr) n.758A>C n.748A>C | |
2 | g.47412454A>G | CA346731886 | MSH2 | c.686A>G (p.Lys229Arg) c.488A>G (p.Lys163Arg) n.758A>G n.748A>G | |
2 | g.47412454A>T | CA346731884 | MSH2 | c.686A>T (p.Lys229Ile) c.488A>T (p.Lys163Ile) n.758A>T n.748A>T | ClinVar dbSNP |
2 | g.47412454_47412455insTGAAAATTATAACATTGATAACTAT | CA2699268402 | MSH2 | c.686_687insTGAAAATTATAACATTGATAACTAT (p.Lys229AsnfsTer11) c.488_489insTGAAAATTATAACATTGATAACTAT (p.Lys163AsnfsTer11) n.758_759insTGAAAATTATAACATTGATAACTAT n.748_749insTGAAAATTATAACATTGATAACTAT | dbSNP |
2 | g.47412455A= | CA2495832699 | MSH2 | c.687A= (p.Lys229=) c.489A= (p.Lys163=) n.759A= n.749A= | |
2 | g.47412455A>C | CA346731890 | MSH2 | c.687A>C (p.Lys229Asn) c.489A>C (p.Lys163Asn) n.759A>C n.749A>C | |
2 | g.47412455A>G | CA425967492 | MSH2 | c.687A>G (p.Lys229=) c.489A>G (p.Lys163=) n.759A>G n.749A>G | ClinVar gnomAD v4 |
2 | g.47412455A>T | CA346731892 | MSH2 | c.687A>T (p.Lys229Asn) c.489A>T (p.Lys163Asn) n.759A>T n.749A>T | gnomAD v4 |
2 | g.47412455_47412456insT | CA645369190 | MSH2 | c.687_688insT (p.Ala230CysfsTer2) c.489_490insT (p.Ala164CysfsTer2) n.759_760insT n.749_750insT | ClinVar dbSNP |
2 | g.47412456G>A | CA346731895 | MSH2 | c.688G>A (p.Ala230Thr) c.490G>A (p.Ala164Thr) n.760G>A n.750G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412456G>C | CA346731898 | MSH2 | c.688G>C (p.Ala230Pro) c.490G>C (p.Ala164Pro) n.760G>C n.750G>C | ClinVar dbSNP |
2 | g.47412456G= | CA2495832700 | MSH2 | c.688G= (p.Ala230=) c.490G= (p.Ala164=) n.760G= n.750G= | |
2 | g.47412456G>T | CA346731899 | MSH2 | c.688G>T (p.Ala230Ser) c.490G>T (p.Ala164Ser) n.760G>T n.750G>T | ClinVar dbSNP |
2 | g.47412457del | CA2580066872 | MSH2 | c.689del (p.Ala230ValfsTer16) c.491del (p.Ala164ValfsTer16) n.761del n.751del | ClinVar |
2 | g.47412457C>A | CA346731907 | MSH2 | c.689C>A (p.Ala230Asp) c.491C>A (p.Ala164Asp) n.761C>A n.751C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412457C= | CA2495832701 | MSH2 | c.689C= (p.Ala230=) c.491C= (p.Ala164=) n.761C= n.751C= | |
2 | g.47412457C>G | CA346731904 | MSH2 | c.689C>G (p.Ala230Gly) c.491C>G (p.Ala164Gly) n.761C>G n.751C>G | ClinVar dbSNP |
2 | g.47412457C>T | CA346731902 | MSH2 | c.689C>T (p.Ala230Val) c.491C>T (p.Ala164Val) n.761C>T n.751C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412457_47412459delinsTT | CA2586969194 | MSH2 | c.689_691delinsTT (p.Ala230ValfsTer16) c.491_493delinsTT (p.Ala164ValfsTer16) n.761_763delinsTT n.751_753delinsTT | |
2 | g.47412458T>A | CA425967509 | MSH2 | c.690T>A (p.Ala230=) c.492T>A (p.Ala164=) n.762T>A n.752T>A | dbSNP |
2 | g.47412458T>C | CA425967512 | MSH2 | c.690T>C (p.Ala230=) c.492T>C (p.Ala164=) n.762T>C n.752T>C | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47412458T>G | CA425967506 | MSH2 | c.690T>G (p.Ala230=) c.492T>G (p.Ala164=) n.762T>G n.752T>G | |
2 | g.47412458T= | CA2495832703 | MSH2 | c.690T= (p.Ala230=) c.492T= (p.Ala164=) n.762T= n.752T= | |
2 | g.47412458_47412459delinsTG | CA2495832702 | MSH2 | c.690_691delinsTG (p.Ala230=) c.492_493delinsTG (p.Ala164=) n.762_763delinsTG n.752_753delinsTG | |
2 | g.47412458_47412460del | CA2697548109 | MSH2 | c.690_692del (p.Asp231del) c.492_494del (p.Asp165del) n.762_764del n.752_754del | ClinVar |
2 | g.47412459del | CA022028 | MSH2 | c.691del (p.Asp231ThrfsTer15) c.493del (p.Asp165ThrfsTer15) n.763del n.753del | ClinVar dbSNP |
2 | g.47412459G>A | CA346731911 | MSH2 | c.691G>A (p.Asp231Asn) c.493G>A (p.Asp165Asn) n.763G>A n.753G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47412459G>C | CA346731914 | MSH2 | c.691G>C (p.Asp231His) c.493G>C (p.Asp165His) n.763G>C n.753G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412459G= | CA2495832704 | MSH2 | c.691G= (p.Asp231=) c.493G= (p.Asp165=) n.763G= n.753G= | |
2 | g.47412459G>T | CA346731917 | MSH2 | c.691G>T (p.Asp231Tyr) c.493G>T (p.Asp165Tyr) n.763G>T n.753G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412460A>C | CA346731928 | MSH2 | c.692A>C (p.Asp231Ala) c.494A>C (p.Asp165Ala) n.764A>C n.754A>C | |
2 | g.47412460A>G | CA346731930 | MSH2 | c.692A>G (p.Asp231Gly) c.494A>G (p.Asp165Gly) n.764A>G n.754A>G | gnomAD v4 |
2 | g.47412460A>T | CA346731932 | MSH2 | c.692A>T (p.Asp231Val) c.494A>T (p.Asp165Val) n.764A>T n.754A>T | dbSNP |
2 | g.47412461C>A | CA346731937 | MSH2 | c.693C>A (p.Asp231Glu) c.495C>A (p.Asp165Glu) n.765C>A n.755C>A | |
2 | g.47412461C= | CA2495832706 | MSH2 | c.693C= (p.Asp231=) c.495C= (p.Asp165=) n.765C= n.755C= | |
2 | g.47412461C>G | CA346731939 | MSH2 | c.693C>G (p.Asp231Glu) c.495C>G (p.Asp165Glu) n.765C>G n.755C>G | dbSNP |
2 | g.47412461C>T | CA040060 | MSH2 | c.693C>T (p.Asp231=) c.495C>T (p.Asp165=) n.765C>T n.755C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412461_47412463delinsCTT | CA2495832705 | MSH2 | c.693_695delinsCTT (p.Asp231=) c.495_497delinsCTT (p.Asp165=) n.765_767delinsCTT n.755_757delinsCTT | |
2 | g.47412462T>A | CA346731946 | MSH2 | c.694T>A (p.Phe232Ile) c.496T>A (p.Phe166Ile) n.766T>A n.756T>A | |
2 | g.47412462T>C | CA346731951 | MSH2 | c.694T>C (p.Phe232Leu) c.496T>C (p.Phe166Leu) n.766T>C n.756T>C | |
2 | g.47412462T>G | CA346731949 | MSH2 | c.694T>G (p.Phe232Val) c.496T>G (p.Phe166Val) n.766T>G n.756T>G | |
2 | g.47412465dup | CA2697548110 | MSH2 | c.697dup (p.Ser233PhefsTer23) c.499dup (p.Ser167PhefsTer23) n.769dup n.759dup | ClinVar |
2 | g.47412465del | CA2499215990 | MSH2 | c.697del (p.Ser233ProfsTer13) c.499del (p.Ser167ProfsTer13) n.769del n.759del | ClinVar dbSNP |
2 | g.47412464_47412465del | CA022033 | MSH2 | c.696_697del (p.Ser233HisfsTer22) c.498_499del (p.Ser167HisfsTer22) n.768_769del n.758_759del | ClinVar dbSNP |
2 | g.47412463T>A | CA346731955 | MSH2 | c.695T>A (p.Phe232Tyr) c.497T>A (p.Phe166Tyr) n.767T>A n.757T>A | |
2 | g.47412463T>C | CA346731957 | MSH2 | c.695T>C (p.Phe232Ser) c.497T>C (p.Phe166Ser) n.767T>C n.757T>C | dbSNP gnomAD v4 |
2 | g.47412463T>G | CA346731961 | MSH2 | c.695T>G (p.Phe232Cys) c.497T>G (p.Phe166Cys) n.767T>G n.757T>G | |
2 | g.47412464T>A | CA346731964 | MSH2 | c.696T>A (p.Phe232Leu) c.498T>A (p.Phe166Leu) n.768T>A n.758T>A | |
2 | g.47412464T>C | CA425967560 | MSH2 | c.696T>C (p.Phe232=) c.498T>C (p.Phe166=) n.768T>C n.758T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412464T>G | CA346731966 | MSH2 | c.696T>G (p.Phe232Leu) c.498T>G (p.Phe166Leu) n.768T>G n.758T>G | |
2 | g.47412464T= | CA2495832707 | MSH2 | c.696T= (p.Phe232=) c.498T= (p.Phe166=) n.768T= n.758T= | |
2 | g.47412465T>A | CA346731976 | MSH2 | c.697T>A (p.Ser233Thr) c.499T>A (p.Ser167Thr) n.769T>A n.759T>A | |
2 | g.47412465T>C | CA346731973 | MSH2 | c.697T>C (p.Ser233Pro) c.499T>C (p.Ser167Pro) n.769T>C n.759T>C | gnomAD v4 |
2 | g.47412465T>G | CA346731969 | MSH2 | c.697T>G (p.Ser233Ala) c.499T>G (p.Ser167Ala) n.769T>G n.759T>G | |
2 | g.47412466C>A | CA346731980 | MSH2 | c.698C>A (p.Ser233Tyr) c.500C>A (p.Ser167Tyr) n.770C>A n.760C>A | dbSNP |
2 | g.47412466C= | CA2495832708 | MSH2 | c.698C= (p.Ser233=) c.500C= (p.Ser167=) n.770C= n.760C= | |
2 | g.47412466C>G | CA022041 | MSH2 | c.698C>G (p.Ser233Cys) c.500C>G (p.Ser167Cys) n.770C>G n.760C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47412466C>T | CA346731983 | MSH2 | c.698C>T (p.Ser233Phe) c.500C>T (p.Ser167Phe) n.770C>T n.760C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47412467del | CA1139771116 | MSH2 | c.699del (p.Thr234GlnfsTer12) c.501del (p.Thr168GlnfsTer12) n.771del n.761del | ClinVar |
2 | g.47412466_47412484delinsCCACAAAAGACATTTATCA | CA2495832709 | MSH2 | c.698_716delinsCCACAAAAGACATTTATCA (p.Ser233=) c.500_518delinsCCACAAAAGACATTTATCA (p.Ser167=) n.770_788delinsCCACAAAAGACATTTATCA n.760_778delinsCCACAAAAGACATTTATCA | |
2 | g.47412467C>A | CA425967576 | MSH2 | c.699C>A (p.Ser233=) c.501C>A (p.Ser167=) n.771C>A n.761C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412467C= | CA2495832711 | MSH2 | c.699C= (p.Ser233=) c.501C= (p.Ser167=) n.771C= n.761C= | |
2 | g.47412467C>G | CA425967578 | MSH2 | c.699C>G (p.Ser233=) c.501C>G (p.Ser167=) n.771C>G n.761C>G | |
2 | g.47412467C>T | CA425967581 | MSH2 | c.699C>T (p.Ser233=) c.501C>T (p.Ser167=) n.771C>T n.761C>T | dbSNP gnomAD v4 COSMIC |
2 | g.47412467_47412484del | CA2495832710 | MSH2 | c.699_716del (p.Thr234_Gln239del) c.501_518del (p.Thr168_Gln173del) n.771_788del n.761_778del | ClinVar dbSNP |
2 | g.47412468A= | CA2495832712 | MSH2 | c.700A= (p.Thr234=) c.502A= (p.Thr168=) n.772A= n.762A= | |
2 | g.47412468A>C | CA346731984 | MSH2 | c.700A>C (p.Thr234Pro) c.502A>C (p.Thr168Pro) n.772A>C n.762A>C | |
2 | g.47412468A>G | CA346731985 | MSH2 | c.700A>G (p.Thr234Ala) c.502A>G (p.Thr168Ala) n.772A>G n.762A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412468A>T | CA346731986 | MSH2 | c.700A>T (p.Thr234Ser) c.502A>T (p.Thr168Ser) n.772A>T n.762A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412471_47412477del | CA2499215991 | MSH2 | c.703_709del (p.Lys235PhefsTer9) c.505_511del (p.Lys169PhefsTer9) n.775_781del n.765_771del | ClinVar dbSNP |
2 | g.47412469C>A | CA346731989 | MSH2 | c.701C>A (p.Thr234Lys) c.503C>A (p.Thr168Lys) n.773C>A n.763C>A | ClinVar |
2 | g.47412469C= | CA2495832714 | MSH2 | c.701C= (p.Thr234=) c.503C= (p.Thr168=) n.773C= n.763C= | |
2 | g.47412469C>G | CA10577945 | MSH2 | c.701C>G (p.Thr234Arg) c.503C>G (p.Thr168Arg) n.773C>G n.763C>G | ClinVar dbSNP |
2 | g.47412469C>T | CA022053 | MSH2 | c.701C>T (p.Thr234Ile) c.503C>T (p.Thr168Ile) n.773C>T n.763C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412469_47412471delinsCAA | CA2495832713 | MSH2 | c.701_703delinsCAA (p.Thr234=) c.503_505delinsCAA (p.Thr168=) n.773_775delinsCAA n.763_765delinsCAA | |
2 | g.47412470A= | CA2495832715 | MSH2 | c.702A= (p.Thr234=) c.504A= (p.Thr168=) n.774A= n.764A= | |
2 | g.47412470A>C | CA425967595 | MSH2 | c.702A>C (p.Thr234=) c.504A>C (p.Thr168=) n.774A>C n.764A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412470A>G | CA040148 | MSH2 | c.702A>G (p.Thr234=) c.504A>G (p.Thr168=) n.774A>G n.764A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412470A>T | CA425967599 | MSH2 | c.702A>T (p.Thr234=) c.504A>T (p.Thr168=) n.774A>T n.764A>T | gnomAD v4 |
2 | g.47412473del | CA022063 | MSH2 | c.705del (p.Asp236ThrfsTer10) c.507del (p.Asp170ThrfsTer10) n.777del n.767del | ClinVar dbSNP |
2 | g.47412472_47412473del | CA022059 | MSH2 | c.704_705del (p.Lys235ArgfsTer20) c.506_507del (p.Lys169ArgfsTer20) n.776_777del n.766_767del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412471A= | CA2495832716 | MSH2 | c.703A= (p.Lys235=) c.505A= (p.Lys169=) n.775A= n.765A= | |
2 | g.47412471A>C | CA346732005 | MSH2 | c.703A>C (p.Lys235Gln) c.505A>C (p.Lys169Gln) n.775A>C n.765A>C | |
2 | g.47412471A>G | CA040162 | MSH2 | c.703A>G (p.Lys235Glu) c.505A>G (p.Lys169Glu) n.775A>G n.765A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412471A>T | CA346732002 | MSH2 | c.703A>T (p.Lys235Ter) c.505A>T (p.Lys169Ter) n.775A>T n.765A>T | |
2 | g.47412472A>C | CA346732011 | MSH2 | c.704A>C (p.Lys235Thr) c.506A>C (p.Lys169Thr) n.776A>C n.766A>C | ClinVar dbSNP |
2 | g.47412472A>G | CA346732013 | MSH2 | c.704A>G (p.Lys235Arg) c.506A>G (p.Lys169Arg) n.776A>G n.766A>G | |
2 | g.47412472A>T | CA346732017 | MSH2 | c.704A>T (p.Lys235Ile) c.506A>T (p.Lys169Ile) n.776A>T n.766A>T | |
2 | g.47412473A>C | CA346732020 | MSH2 | c.705A>C (p.Lys235Asn) c.507A>C (p.Lys169Asn) n.777A>C n.767A>C | |
2 | g.47412473A>G | CA425967624 | MSH2 | c.705A>G (p.Lys235=) c.507A>G (p.Lys169=) n.777A>G n.767A>G | |
2 | g.47412473A>T | CA346732023 | MSH2 | c.705A>T (p.Lys235Asn) c.507A>T (p.Lys169Asn) n.777A>T n.767A>T | dbSNP |
2 | g.47412474G>A | CA346732026 | MSH2 | c.706G>A (p.Asp236Asn) c.508G>A (p.Asp170Asn) n.778G>A n.768G>A | ClinVar dbSNP |
2 | g.47412474G>C | CA16617560 | MSH2 | c.706G>C (p.Asp236His) c.508G>C (p.Asp170His) n.778G>C n.768G>C | ClinVar dbSNP |
2 | g.47412474G= | CA2495832717 | MSH2 | c.706G= (p.Asp236=) c.508G= (p.Asp170=) n.778G= n.768G= | |
2 | g.47412474G>T | CA346732029 | MSH2 | c.706G>T (p.Asp236Tyr) c.508G>T (p.Asp170Tyr) n.778G>T n.768G>T | ClinVar |
2 | g.47412475A= | CA2495832719 | MSH2 | c.707A= (p.Asp236=) c.509A= (p.Asp170=) n.779A= n.769A= | |
2 | g.47412475A>C | CA346732033 | MSH2 | c.707A>C (p.Asp236Ala) c.509A>C (p.Asp170Ala) n.779A>C n.769A>C | dbSNP |
2 | g.47412475A>G | CA10577946 | MSH2 | c.707A>G (p.Asp236Gly) c.509A>G (p.Asp170Gly) n.779A>G n.769A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412475A>T | CA346732037 | MSH2 | c.707A>T (p.Asp236Val) c.509A>T (p.Asp170Val) n.779A>T n.769A>T | dbSNP |
2 | g.47412475_47412482delinsACATTTAT | CA2495832718 | MSH2 | c.707_714delinsACATTTAT (p.Asp236=) c.509_516delinsACATTTAT (p.Asp170=) n.779_786delinsACATTTAT n.769_776delinsACATTTAT | |
2 | g.47412476C>A | CA346732040 | MSH2 | c.708C>A (p.Asp236Glu) c.510C>A (p.Asp170Glu) n.780C>A n.770C>A | ClinVar dbSNP |
2 | g.47412476C= | CA2495832721 | MSH2 | c.708C= (p.Asp236=) c.510C= (p.Asp170=) n.780C= n.770C= | |
2 | g.47412476C>G | CA346732045 | MSH2 | c.708C>G (p.Asp236Glu) c.510C>G (p.Asp170Glu) n.780C>G n.770C>G | ClinVar dbSNP |
2 | g.47412476C>T | CA425967640 | MSH2 | c.708C>T (p.Asp236=) c.510C>T (p.Asp170=) n.780C>T n.770C>T | ClinVar dbSNP |
2 | g.47412476_47412480delinsCATTT | CA2495832720 | MSH2 | c.708_712delinsCATTT (p.Asp236=) c.510_514delinsCATTT (p.Asp170=) n.780_784delinsCATTT n.770_774delinsCATTT | |
2 | g.47412478_47412484del | CA645369191 | MSH2 | c.710_716del (p.Ile237ArgfsTer7) c.512_518del (p.Ile171ArgfsTer7) n.782_788del n.772_778del | ClinVar dbSNP |
2 | g.47412477del | CA2580066887 | MSH2 | c.709del (p.Ile237PhefsTer9) c.511del (p.Ile171PhefsTer9) n.781del n.771del | ClinVar |
2 | g.47412477A= | CA2495832722 | MSH2 | c.709A= (p.Ile237=) c.511A= (p.Ile171=) n.781A= n.771A= | |
2 | g.47412477A>C | CA346732052 | MSH2 | c.709A>C (p.Ile237Leu) c.511A>C (p.Ile171Leu) n.781A>C n.771A>C | |
2 | g.47412477A>G | CA022070 | MSH2 | c.709A>G (p.Ile237Val) c.511A>G (p.Ile171Val) n.781A>G n.771A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.47412477A>T | CA346732051 | MSH2 | c.709A>T (p.Ile237Phe) c.511A>T (p.Ile171Phe) n.781A>T n.771A>T | ClinVar dbSNP |
2 | g.47412479_47412482dup | CA891841777 | MSH2 | c.711_714dup (p.Gln239LeufsTer18) c.513_516dup (p.Gln173LeufsTer18) n.783_786dup n.773_776dup | |
2 | g.47412479_47412482del | CA022080 | MSH2 | c.711_714del (p.Tyr238ArgfsTer7) c.513_516del (p.Tyr172ArgfsTer7) n.783_786del n.773_776del | ClinVar dbSNP |
2 | g.47412478T>A | CA346732053 | MSH2 | c.710T>A (p.Ile237Asn) c.512T>A (p.Ile171Asn) n.782T>A n.772T>A | dbSNP |
2 | g.47412478T>C | CA346732055 | MSH2 | c.710T>C (p.Ile237Thr) c.512T>C (p.Ile171Thr) n.782T>C n.772T>C | |
2 | g.47412478T>G | CA346732057 | MSH2 | c.710T>G (p.Ile237Ser) c.512T>G (p.Ile171Ser) n.782T>G n.772T>G | ClinVar |
2 | g.47412480del | CA2580066888 | MSH2 | c.712del (p.Tyr238IlefsTer8) c.514del (p.Tyr172IlefsTer8) n.784del n.774del | ClinVar |
2 | g.47412478_47412483delinsAAAGGTTCCACAAA | CA2580066889 | MSH2 | c.710_715delinsAAAGGTTCCACAAA (p.Ile237LysfsTer12) c.512_517delinsAAAGGTTCCACAAA (p.Ile171LysfsTer12) n.782_787delinsAAAGGTTCCACAAA n.772_777delinsAAAGGTTCCACAAA | ClinVar |
2 | g.47412479T>A | CA425967648 | MSH2 | c.711T>A (p.Ile237=) c.513T>A (p.Ile171=) n.783T>A n.773T>A | dbSNP |
2 | g.47412479T>C | CA425967650 | MSH2 | c.711T>C (p.Ile237=) c.513T>C (p.Ile171=) n.783T>C n.773T>C | ClinVar dbSNP |
2 | g.47412479T>G | CA346732061 | MSH2 | c.711T>G (p.Ile237Met) c.513T>G (p.Ile171Met) n.783T>G n.773T>G | |
2 | g.47412479_47412495del | CA658760732 | MSH2 | c.711_727del (p.Ile237MetfsTer13) c.513_529del (p.Ile171MetfsTer13) n.783_799del n.773_789del | |
2 | g.47412480T>A | CA346732068 | MSH2 | c.712T>A (p.Tyr238Asn) c.514T>A (p.Tyr172Asn) n.784T>A n.774T>A | dbSNP |
2 | g.47412480T>C | CA346732066 | MSH2 | c.712T>C (p.Tyr238His) c.514T>C (p.Tyr172His) n.784T>C n.774T>C | ClinVar |
2 | g.47412480T>G | CA16611002 | MSH2 | c.712T>G (p.Tyr238Asp) c.514T>G (p.Tyr172Asp) n.784T>G n.774T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412480T= | CA2495832723 | MSH2 | c.712T= (p.Tyr238=) c.514T= (p.Tyr172=) n.784T= n.774T= | |
2 | g.47412481A= | CA2495832724 | MSH2 | c.713A= (p.Tyr238=) c.515A= (p.Tyr172=) n.785A= n.775A= | |
2 | g.47412481A>C | CA346732070 | MSH2 | c.713A>C (p.Tyr238Ser) c.515A>C (p.Tyr172Ser) n.785A>C n.775A>C | |
2 | g.47412481A>G | CA346732073 | MSH2 | c.713A>G (p.Tyr238Cys) c.515A>G (p.Tyr172Cys) n.785A>G n.775A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47412481A>T | CA346732076 | MSH2 | c.713A>T (p.Tyr238Phe) c.515A>T (p.Tyr172Phe) n.785A>T n.775A>T | ClinVar dbSNP |
2 | g.47412482_47412487del | CA2658946232 | MSH2 | c.714_719del (p.Gln239_Asp240del) c.516_521del (p.Gln173_Asp174del) n.786_791del n.776_781del | gnomAD v4 |
2 | g.47412482T>A | CA346732079 | MSH2 | c.714T>A (p.Tyr238Ter) c.516T>A (p.Tyr172Ter) n.786T>A n.776T>A | dbSNP |
2 | g.47412482T>C | CA040171 | MSH2 | c.714T>C (p.Tyr238=) c.516T>C (p.Tyr172=) n.786T>C n.776T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412482T>G | CA346732082 | MSH2 | c.714T>G (p.Tyr238Ter) c.516T>G (p.Tyr172Ter) n.786T>G n.776T>G | ClinVar dbSNP |
2 | g.47412482T= | CA2495832725 | MSH2 | c.714T= (p.Tyr238=) c.516T= (p.Tyr172=) n.786T= n.776T= | |
2 | g.47412483C>A | CA346732084 | MSH2 | c.715C>A (p.Gln239Lys) c.517C>A (p.Gln173Lys) n.787C>A n.777C>A | |
2 | g.47412483C= | CA2495832726 | MSH2 | c.715C= (p.Gln239=) c.517C= (p.Gln173=) n.787C= n.777C= | |
2 | g.47412483C>G | CA16610793 | MSH2 | c.715C>G (p.Gln239Glu) c.517C>G (p.Gln173Glu) n.787C>G n.777C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47412483C>T | CA022086 | MSH2 | c.715C>T (p.Gln239Ter) c.517C>T (p.Gln173Ter) n.787C>T n.777C>T | ClinVar dbSNP |
2 | g.47412483dup | CA2695200765 | MSH2 | c.715dup (p.Gln239ProfsTer17) c.517dup (p.Gln173ProfsTer17) n.787dup n.777dup | ClinVar |
2 | g.47412484A= | CA2495832728 | MSH2 | c.716A= (p.Gln239=) c.518A= (p.Gln173=) n.788A= n.778A= | |
2 | g.47412484A>C | CA346732090 | MSH2 | c.716A>C (p.Gln239Pro) c.518A>C (p.Gln173Pro) n.788A>C n.778A>C | ClinVar dbSNP |
2 | g.47412484A>G | CA022091 | MSH2 | c.716A>G (p.Gln239Arg) c.518A>G (p.Gln173Arg) n.788A>G n.778A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47412484A>T | CA346732096 | MSH2 | c.716A>T (p.Gln239Leu) c.518A>T (p.Gln173Leu) n.788A>T n.778A>T | ClinVar dbSNP |
2 | g.47412484_47412489delinsAGGACC | CA2495832727 | MSH2 | c.716_721delinsAGGACC (p.Gln239=) c.518_523delinsAGGACC (p.Gln173=) n.788_793delinsAGGACC n.778_783delinsAGGACC | |
2 | g.47412485G>A | CA425967683 | MSH2 | c.717G>A (p.Gln239=) c.519G>A (p.Gln173=) n.789G>A n.779G>A | dbSNP |
2 | g.47412485G>C | CA346732111 | MSH2 | c.717G>C (p.Gln239His) c.519G>C (p.Gln173His) n.789G>C n.779G>C | ClinVar dbSNP |
2 | g.47412485G>T | CA346732113 | MSH2 | c.717G>T (p.Gln239His) c.519G>T (p.Gln173His) n.789G>T n.779G>T | ClinVar dbSNP |
2 | g.47412486del | CA645531412 | MSH2 | c.718del (p.Asp240ThrfsTer6) c.520del (p.Asp174ThrfsTer6) n.790del n.780del | ClinVar dbSNP COSMIC |
2 | g.47412485_47412489delinsTTA | CA022098 | MSH2 | c.717_721delinsTTA (p.Gln239HisfsTer16) c.519_523delinsTTA (p.Gln173HisfsTer16) n.789_793delinsTTA n.779_783delinsTTA | ClinVar dbSNP |
2 | g.47412486G>A | CA346732114 | MSH2 | c.718G>A (p.Asp240Asn) c.520G>A (p.Asp174Asn) n.790G>A n.780G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47412486G>C | CA346732117 | MSH2 | c.718G>C (p.Asp240His) c.520G>C (p.Asp174His) n.790G>C n.780G>C | dbSNP |
2 | g.47412486G= | CA2495832729 | MSH2 | c.718G= (p.Asp240=) c.520G= (p.Asp174=) n.790G= n.780G= | |
2 | g.47412486G>T | CA346732120 | MSH2 | c.718G>T (p.Asp240Tyr) c.520G>T (p.Asp174Tyr) n.790G>T n.780G>T | ClinVar dbSNP |