16 | g.67436621G>A | CA396281766 | HSD11B2 | c.836G>A (p.Arg279His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436621G>C | CA396281768 | HSD11B2 | c.836G>C (p.Arg279Pro)
| |
16 | g.67436621G= | CA2229310397 | HSD11B2 | c.836G= (p.Arg279=)
| |
16 | g.67436621G>T | CA396281771 | HSD11B2 | c.836G>T (p.Arg279Leu)
| |
16 | g.67436622C>A | CA496082978 | HSD11B2 | c.837C>A (p.Arg279=)
| |
16 | g.67436622C= | CA2229310399 | HSD11B2 | c.837C= (p.Arg279=)
| |
16 | g.67436622C>G | CA496082979 | HSD11B2 | c.837C>G (p.Arg279=)
| |
16 | g.67436622C>T | CA282323197 | HSD11B2 | c.837C>T (p.Arg279=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436623A>C | CA396281773 | HSD11B2 | c.838A>C (p.Lys280Gln)
| |
16 | g.67436623A>G | CA396281774 | HSD11B2 | c.838A>G (p.Lys280Glu)
| |
16 | g.67436623A>T | CA396281775 | HSD11B2 | c.838A>T (p.Lys280Ter)
| |
16 | g.67436624A>C | CA396281776 | HSD11B2 | c.839A>C (p.Lys280Thr)
| |
16 | g.67436624A>G | CA396281777 | HSD11B2 | c.839A>G (p.Lys280Arg)
| |
16 | g.67436624A>T | CA396281778 | HSD11B2 | c.839A>T (p.Lys280Met)
| gnomAD v4 |
16 | g.67436625G>A | CA496082980 | HSD11B2 | c.840G>A (p.Lys280=)
| |
16 | g.67436625G>C | CA396281780 | HSD11B2 | c.840G>C (p.Lys280Asn)
| |
16 | g.67436625G= | CA2229310402 | HSD11B2 | c.840G= (p.Lys280=)
| |
16 | g.67436625G>T | CA396281782 | HSD11B2 | c.840G>T (p.Lys280Asn)
| dbSNP gnomAD v4 |
16 | g.67436626_67436627insGGC | CA2571104389 | HSD11B2 | c.841_842insGGC (p.Lys280_Gln281insArg)
| |
16 | g.67436626C>A | CA396281783 | HSD11B2 | c.841C>A (p.Gln281Lys)
| |
16 | g.67436626C>G | CA396281786 | HSD11B2 | c.841C>G (p.Gln281Glu)
| |
16 | g.67436626C>T | CA396281787 | HSD11B2 | c.841C>T (p.Gln281Ter)
| |
16 | g.67436627A>C | CA396281790 | HSD11B2 | c.842A>C (p.Gln281Pro)
| |
16 | g.67436627A>G | CA396281792 | HSD11B2 | c.842A>G (p.Gln281Arg)
| |
16 | g.67436627A>T | CA396281793 | HSD11B2 | c.842A>T (p.Gln281Leu)
| |
16 | g.67436628A>C | CA396281794 | HSD11B2 | c.843A>C (p.Gln281His)
| |
16 | g.67436628A>G | CA496082981 | HSD11B2 | c.843A>G (p.Gln281=)
| |
16 | g.67436628A>T | CA396281795 | HSD11B2 | c.843A>T (p.Gln281His)
| |
16 | g.67436628_67436630del | CA2531213811 | HSD11B2 | c.843_845del (p.Leu282del)
| |
16 | g.67436629T>A | CA396281796 | HSD11B2 | c.844T>A (p.Leu282Met)
| |
16 | g.67436629T>C | CA496082982 | HSD11B2 | c.844T>C (p.Leu282=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436629T>G | CA396281797 | HSD11B2 | c.844T>G (p.Leu282Val)
| |
16 | g.67436629T= | CA2229310404 | HSD11B2 | c.844T= (p.Leu282=)
| |
16 | g.67436630T>A | CA396281798 | HSD11B2 | c.845T>A (p.Leu282Ter)
| |
16 | g.67436630T>C | CA396281800 | HSD11B2 | c.845T>C (p.Leu282Ser)
| |
16 | g.67436630T>G | CA396281802 | HSD11B2 | c.845T>G (p.Leu282Trp)
| |
16 | g.67436631G>A | CA496082983 | HSD11B2 | c.846G>A (p.Leu282=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436631G>C | CA396281807 | HSD11B2 | c.846G>C (p.Leu282Phe)
| |
16 | g.67436631G= | CA2229310406 | HSD11B2 | c.846G= (p.Leu282=)
| |
16 | g.67436631G>T | CA396281805 | HSD11B2 | c.846G>T (p.Leu282Phe)
| |
16 | g.67436632C>A | CA396281810 | HSD11B2 | c.847C>A (p.Leu283Met)
| |
16 | g.67436632C>G | CA396281811 | HSD11B2 | c.847C>G (p.Leu283Val)
| |
16 | g.67436632C>T | CA496082984 | HSD11B2 | c.847C>T (p.Leu283=)
| |
16 | g.67436633T>A | CA396281815 | HSD11B2 | c.848T>A (p.Leu283Gln)
| |
16 | g.67436633T>C | CA396281817 | HSD11B2 | c.848T>C (p.Leu283Pro)
| |
16 | g.67436633T>G | CA396281819 | HSD11B2 | c.848T>G (p.Leu283Arg)
| |
16 | g.67436634G>A | CA496082985 | HSD11B2 | c.849G>A (p.Leu283=)
| |
16 | g.67436634G>C | CA496082986 | HSD11B2 | c.849G>C (p.Leu283=)
| |
16 | g.67436634G>T | CA496082987 | HSD11B2 | c.849G>T (p.Leu283=)
| |
16 | g.67436635C>A | CA396281823 | HSD11B2 | c.850C>A (p.Leu284Met)
| |
16 | g.67436635C= | CA2229310409 | HSD11B2 | c.850C= (p.Leu284=)
| |
16 | g.67436635C>G | CA396281825 | HSD11B2 | c.850C>G (p.Leu284Val)
| |
16 | g.67436635C>T | CA496082988 | HSD11B2 | c.850C>T (p.Leu284=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436636T>A | CA396281832 | HSD11B2 | c.851T>A (p.Leu284Gln)
| |
16 | g.67436636T>C | CA396281829 | HSD11B2 | c.851T>C (p.Leu284Pro)
| |
16 | g.67436636T>G | CA396281828 | HSD11B2 | c.851T>G (p.Leu284Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436636T= | CA2229310412 | HSD11B2 | c.851T= (p.Leu284=)
| |
16 | g.67436637G>A | CA496082991 | HSD11B2 | c.852G>A (p.Leu284=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436637G>C | CA496082990 | HSD11B2 | c.852G>C (p.Leu284=)
| |
16 | g.67436637G= | CA2229310415 | HSD11B2 | c.852G= (p.Leu284=)
| |
16 | g.67436637G>T | CA496082989 | HSD11B2 | c.852G>T (p.Leu284=)
| |
16 | g.67436638G>A | CA8110763 | HSD11B2 | c.853G>A (p.Ala285Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436638G>C | CA396281835 | HSD11B2 | c.853G>C (p.Ala285Pro)
| |
16 | g.67436638G= | CA2229310418 | HSD11B2 | c.853G= (p.Ala285=)
| |
16 | g.67436638G>T | CA396281837 | HSD11B2 | c.853G>T (p.Ala285Ser)
| |
16 | g.67436639C>A | CA396281839 | HSD11B2 | c.854C>A (p.Ala285Asp)
| |
16 | g.67436639C>G | CA396281842 | HSD11B2 | c.854C>G (p.Ala285Gly)
| gnomAD v4 |
16 | g.67436639C>T | CA396281843 | HSD11B2 | c.854C>T (p.Ala285Val)
| |
16 | g.67436640C>A | CA496082992 | HSD11B2 | c.855C>A (p.Ala285=)
| |
16 | g.67436640C>G | CA496082993 | HSD11B2 | c.855C>G (p.Ala285=)
| |
16 | g.67436640C>T | CA496082994 | HSD11B2 | c.855C>T (p.Ala285=)
| gnomAD v4 |
16 | g.67436641A>C | CA396281850 | HSD11B2 | c.856A>C (p.Asn286His)
| |
16 | g.67436641A>G | CA396281846 | HSD11B2 | c.856A>G (p.Asn286Asp)
| |
16 | g.67436641A>T | CA396281848 | HSD11B2 | c.856A>T (p.Asn286Tyr)
| |
16 | g.67436642A= | CA2229310420 | HSD11B2 | c.857A= (p.Asn286=)
| |
16 | g.67436642A>C | CA396281851 | HSD11B2 | c.857A>C (p.Asn286Thr)
| |
16 | g.67436642A>G | CA396281853 | HSD11B2 | c.857A>G (p.Asn286Ser)
| dbSNP |
16 | g.67436642A>T | CA396281854 | HSD11B2 | c.857A>T (p.Asn286Ile)
| |
16 | g.67436643C>A | CA396281858 | HSD11B2 | c.858C>A (p.Asn286Lys)
| |
16 | g.67436643C= | CA2229310421 | HSD11B2 | c.858C= (p.Asn286=)
| |
16 | g.67436643C>G | CA396281859 | HSD11B2 | c.858C>G (p.Asn286Lys)
| |
16 | g.67436643C>T | CA496082995 | HSD11B2 | c.858C>T (p.Asn286=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436644del | CA2695223626 | HSD11B2 | c.859del (p.Leu287CysfsTer?)
| |
16 | g.67436644C>A | CA396281862 | HSD11B2 | c.859C>A (p.Leu287Met)
| |
16 | g.67436644C>G | CA396281866 | HSD11B2 | c.859C>G (p.Leu287Val)
| |
16 | g.67436644C>T | CA496082996 | HSD11B2 | c.859C>T (p.Leu287=)
| |
16 | g.67436645T>A | CA396281868 | HSD11B2 | c.860T>A (p.Leu287Gln)
| |
16 | g.67436645T>C | CA396281869 | HSD11B2 | c.860T>C (p.Leu287Pro)
| |
16 | g.67436645T>G | CA396281870 | HSD11B2 | c.860T>G (p.Leu287Arg)
| |
16 | g.67436646G>A | CA496082997 | HSD11B2 | c.861G>A (p.Leu287=)
| |
16 | g.67436646G>C | CA496082998 | HSD11B2 | c.861G>C (p.Leu287=)
| |
16 | g.67436646G>T | CA496082999 | HSD11B2 | c.861G>T (p.Leu287=)
| |
16 | g.67436647C>A | CA396281873 | HSD11B2 | c.862C>A (p.Pro288Thr)
| |
16 | g.67436647C>G | CA396281875 | HSD11B2 | c.862C>G (p.Pro288Ala)
| |
16 | g.67436647C>T | CA396281878 | HSD11B2 | c.862C>T (p.Pro288Ser)
| gnomAD v4 |
16 | g.67436648C>A | CA396281881 | HSD11B2 | c.863C>A (p.Pro288His)
| |
16 | g.67436648C>G | CA396281884 | HSD11B2 | c.863C>G (p.Pro288Arg)
| |
16 | g.67436648C>T | CA396281883 | HSD11B2 | c.863C>T (p.Pro288Leu)
| gnomAD v4 |
16 | g.67436649T>A | CA496083000 | HSD11B2 | c.864T>A (p.Pro288=)
| |
16 | g.67436649T>C | CA496083001 | HSD11B2 | c.864T>C (p.Pro288=)
| |
16 | g.67436649T>G | CA496083002 | HSD11B2 | c.864T>G (p.Pro288=)
| |
16 | g.67436650C>A | CA8110764 | HSD11B2 | c.865C>A (p.Gln289Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436650C= | CA2229310423 | HSD11B2 | c.865C= (p.Gln289=)
| |
16 | g.67436650C>G | CA396281888 | HSD11B2 | c.865C>G (p.Gln289Glu)
| |
16 | g.67436650C>T | CA396281890 | HSD11B2 | c.865C>T (p.Gln289Ter)
| gnomAD v4 |
16 | g.67436651A>C | CA396281891 | HSD11B2 | c.866A>C (p.Gln289Pro)
| |
16 | g.67436651A>G | CA396281894 | HSD11B2 | c.866A>G (p.Gln289Arg)
| |
16 | g.67436651A>T | CA396281895 | HSD11B2 | c.866A>T (p.Gln289Leu)
| |
16 | g.67436652A>C | CA396281897 | HSD11B2 | c.867A>C (p.Gln289His)
| |
16 | g.67436652A>G | CA496083003 | HSD11B2 | c.867A>G (p.Gln289=)
| |
16 | g.67436652A>T | CA396281898 | HSD11B2 | c.867A>T (p.Gln289His)
| |
16 | g.67436653G>A | CA396281900 | HSD11B2 | c.868G>A (p.Glu290Lys)
| |
16 | g.67436653G>C | CA396281902 | HSD11B2 | c.868G>C (p.Glu290Gln)
| |
16 | g.67436653G>T | CA396281904 | HSD11B2 | c.868G>T (p.Glu290Ter)
| |
16 | g.67436654A= | CA2229310429 | HSD11B2 | c.869A= (p.Glu290=)
| |
16 | g.67436654A>C | CA396281906 | HSD11B2 | c.869A>C (p.Glu290Ala)
| |
16 | g.67436654A>G | CA396281907 | HSD11B2 | c.869A>G (p.Glu290Gly)
| dbSNP gnomAD v4 |
16 | g.67436654A>T | CA396281910 | HSD11B2 | c.869A>T (p.Glu290Val)
| |
16 | g.67436655G>A | CA496083004 | HSD11B2 | c.870G>A (p.Glu290=)
| |
16 | g.67436655G>C | CA396281914 | HSD11B2 | c.870G>C (p.Glu290Asp)
| |
16 | g.67436655G>T | CA396281915 | HSD11B2 | c.870G>T (p.Glu290Asp)
| |
16 | g.67436656C>A | CA396281916 | HSD11B2 | c.871C>A (p.Leu291Met)
| |
16 | g.67436656C>G | CA396281918 | HSD11B2 | c.871C>G (p.Leu291Val)
| |
16 | g.67436656C>T | CA496083005 | HSD11B2 | c.871C>T (p.Leu291=)
| |
16 | g.67436657T>A | CA396281924 | HSD11B2 | c.872T>A (p.Leu291Gln)
| |
16 | g.67436657T>C | CA396281928 | HSD11B2 | c.872T>C (p.Leu291Pro)
| |
16 | g.67436657T>G | CA396281937 | HSD11B2 | c.872T>G (p.Leu291Arg)
| |
16 | g.67436658G>A | CA496083006 | HSD11B2 | c.873G>A (p.Leu291=)
| gnomAD v4 |
16 | g.67436658G>C | CA496083008 | HSD11B2 | c.873G>C (p.Leu291=)
| |
16 | g.67436658G>T | CA496083007 | HSD11B2 | c.873G>T (p.Leu291=)
| |
16 | g.67436659C>A | CA396281939 | HSD11B2 | c.874C>A (p.Leu292Met)
| |
16 | g.67436659C>G | CA396281941 | HSD11B2 | c.874C>G (p.Leu292Val)
| |
16 | g.67436659C>T | CA496083009 | HSD11B2 | c.874C>T (p.Leu292=)
| gnomAD v4 |
16 | g.67436660T>A | CA396281942 | HSD11B2 | c.875T>A (p.Leu292Gln)
| |
16 | g.67436660T>C | CA396281943 | HSD11B2 | c.875T>C (p.Leu292Pro)
| |
16 | g.67436660T>G | CA396281944 | HSD11B2 | c.875T>G (p.Leu292Arg)
| |
16 | g.67436661G>A | CA8110765 | HSD11B2 | c.876G>A (p.Leu292=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436661G>C | CA496083010 | HSD11B2 | c.876G>C (p.Leu292=)
| |
16 | g.67436661G= | CA2229310431 | HSD11B2 | c.876G= (p.Leu292=)
| |
16 | g.67436661G>T | CA496083011 | HSD11B2 | c.876G>T (p.Leu292=)
| gnomAD v4 |
16 | g.67436662C>A | CA396281952 | HSD11B2 | c.877C>A (p.Gln293Lys)
| |
16 | g.67436662C= | CA2229310434 | HSD11B2 | c.877C= (p.Gln293=)
| |
16 | g.67436662C>G | CA396281950 | HSD11B2 | c.877C>G (p.Gln293Glu)
| |
16 | g.67436662C>T | CA8110766 | HSD11B2 | c.877C>T (p.Gln293Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436663A= | CA2229310437 | HSD11B2 | c.878A= (p.Gln293=)
| |
16 | g.67436663A>C | CA396281956 | HSD11B2 | c.878A>C (p.Gln293Pro)
| |
16 | g.67436663A>G | CA396281961 | HSD11B2 | c.878A>G (p.Gln293Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436663A>T | CA396281958 | HSD11B2 | c.878A>T (p.Gln293Leu)
| |
16 | g.67436664G>A | CA496083012 | HSD11B2 | c.879G>A (p.Gln293=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436664G>C | CA396281964 | HSD11B2 | c.879G>C (p.Gln293His)
| |
16 | g.67436664G= | CA2229310439 | HSD11B2 | c.879G= (p.Gln293=)
| |
16 | g.67436664G>T | CA396281965 | HSD11B2 | c.879G>T (p.Gln293His)
| |
16 | g.67436665G>A | CA396281968 | HSD11B2 | c.880G>A (p.Ala294Thr)
| gnomAD v4 |
16 | g.67436665G>C | CA396281970 | HSD11B2 | c.880G>C (p.Ala294Pro)
| COSMIC |
16 | g.67436665G>T | CA396281971 | HSD11B2 | c.880G>T (p.Ala294Ser)
| |
16 | g.67436666C>A | CA396281972 | HSD11B2 | c.881C>A (p.Ala294Asp)
| |
16 | g.67436666C= | CA2229310440 | HSD11B2 | c.881C= (p.Ala294=)
| |
16 | g.67436666C>G | CA396281974 | HSD11B2 | c.881C>G (p.Ala294Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436666C>T | CA396281976 | HSD11B2 | c.881C>T (p.Ala294Val)
| gnomAD v4 |
16 | g.67436667C>A | CA8110767 | HSD11B2 | c.882C>A (p.Ala294=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436667C= | CA2229310442 | HSD11B2 | c.882C= (p.Ala294=)
| |
16 | g.67436667C>G | CA496083013 | HSD11B2 | c.882C>G (p.Ala294=)
| |
16 | g.67436667C>T | CA496083014 | HSD11B2 | c.882C>T (p.Ala294=)
| |
16 | g.67436668T>A | CA396281979 | HSD11B2 | c.883T>A (p.Tyr295Asn)
| |
16 | g.67436668T>C | CA396281980 | HSD11B2 | c.883T>C (p.Tyr295His)
| |
16 | g.67436668T>G | CA396281981 | HSD11B2 | c.883T>G (p.Tyr295Asp)
| |
16 | g.67436669A>C | CA396281990 | HSD11B2 | c.884A>C (p.Tyr295Ser)
| |
16 | g.67436669A>G | CA396281983 | HSD11B2 | c.884A>G (p.Tyr295Cys)
| |
16 | g.67436669A>T | CA396281988 | HSD11B2 | c.884A>T (p.Tyr295Phe)
| |
16 | g.67436670C>A | CA396281994 | HSD11B2 | c.885C>A (p.Tyr295Ter)
| dbSNP |
16 | g.67436670C= | CA2229310444 | HSD11B2 | c.885C= (p.Tyr295=)
| |
16 | g.67436670C>G | CA396281997 | HSD11B2 | c.885C>G (p.Tyr295Ter)
| |
16 | g.67436670C>T | CA496083015 | HSD11B2 | c.885C>T (p.Tyr295=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.67436671G>A | CA282323259 | HSD11B2 | c.886G>A (p.Gly296Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436671G>C | CA396281998 | HSD11B2 | c.886G>C (p.Gly296Arg)
| |
16 | g.67436671G= | CA2229310446 | HSD11B2 | c.886G= (p.Gly296=)
| |
16 | g.67436671G>T | CA396281999 | HSD11B2 | c.886G>T (p.Gly296Cys)
| |
16 | g.67436672G>A | CA396282000 | HSD11B2 | c.887G>A (p.Gly296Asp)
| |
16 | g.67436672G>C | CA396282001 | HSD11B2 | c.887G>C (p.Gly296Ala)
| |
16 | g.67436672G>T | CA396282003 | HSD11B2 | c.887G>T (p.Gly296Val)
| |
16 | g.67436673C>A | CA496083016 | HSD11B2 | c.888C>A (p.Gly296=)
| |
16 | g.67436673C= | CA2229310450 | HSD11B2 | c.888C= (p.Gly296=)
| |
16 | g.67436673C>G | CA496083017 | HSD11B2 | c.888C>G (p.Gly296=)
| |
16 | g.67436673C>T | CA282323260 | HSD11B2 | c.888C>T (p.Gly296=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436674A>C | CA396282006 | HSD11B2 | c.889A>C (p.Lys297Gln)
| |
16 | g.67436674A>G | CA396282013 | HSD11B2 | c.889A>G (p.Lys297Glu)
| |
16 | g.67436674A>T | CA396282015 | HSD11B2 | c.889A>T (p.Lys297Ter)
| |
16 | g.67436675A>C | CA396282019 | HSD11B2 | c.890A>C (p.Lys297Thr)
| |
16 | g.67436675A>G | CA396282017 | HSD11B2 | c.890A>G (p.Lys297Arg)
| |
16 | g.67436675A>T | CA396282016 | HSD11B2 | c.890A>T (p.Lys297Met)
| |
16 | g.67436676G>A | CA496083018 | HSD11B2 | c.891G>A (p.Lys297=)
| |
16 | g.67436676G>C | CA396282021 | HSD11B2 | c.891G>C (p.Lys297Asn)
| |
16 | g.67436676G>T | CA396282024 | HSD11B2 | c.891G>T (p.Lys297Asn)
| |
16 | g.67436677G>A | CA282323263 | HSD11B2 | c.892G>A (p.Asp298Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436677G>C | CA396282025 | HSD11B2 | c.892G>C (p.Asp298His)
| gnomAD v2 gnomAD v4 |
16 | g.67436677G= | CA2229310453 | HSD11B2 | c.892G= (p.Asp298=)
| |
16 | g.67436677G>T | CA396282026 | HSD11B2 | c.892G>T (p.Asp298Tyr)
| gnomAD v4 |
16 | g.67436677_67436680delinsGACT | CA2229310452 | HSD11B2 | c.892_895delinsGACT (p.Asp298=)
| |
16 | g.67436678A= | CA2229310458 | HSD11B2 | c.893A= (p.Asp298=)
| |
16 | g.67436678A>C | CA396282031 | HSD11B2 | c.893A>C (p.Asp298Ala)
| |
16 | g.67436678A>G | CA396282030 | HSD11B2 | c.893A>G (p.Asp298Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436678A>T | CA396282027 | HSD11B2 | c.893A>T (p.Asp298Val)
| |
16 | g.67436680_67436682del | CA212941 | HSD11B2 | c.895_897del (p.Tyr299del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436679C>A | CA396282036 | HSD11B2 | c.894C>A (p.Asp298Glu)
| |
16 | g.67436679C>G | CA396282039 | HSD11B2 | c.894C>G (p.Asp298Glu)
| |
16 | g.67436679C>T | CA496083019 | HSD11B2 | c.894C>T (p.Asp298=)
| |
16 | g.67436680T>A | CA396282043 | HSD11B2 | c.895T>A (p.Tyr299Asn)
| |
16 | g.67436680T>C | CA396282047 | HSD11B2 | c.895T>C (p.Tyr299His)
| |
16 | g.67436680T>G | CA396282051 | HSD11B2 | c.895T>G (p.Tyr299Asp)
| |
16 | g.67436681A= | CA2229310462 | HSD11B2 | c.896A= (p.Tyr299=)
| |
16 | g.67436681A>C | CA396282055 | HSD11B2 | c.896A>C (p.Tyr299Ser)
| |
16 | g.67436681A>G | CA396282065 | HSD11B2 | c.896A>G (p.Tyr299Cys)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436681A>T | CA396282062 | HSD11B2 | c.896A>T (p.Tyr299Phe)
| |
16 | g.67436682C>A | CA396282068 | HSD11B2 | c.897C>A (p.Tyr299Ter)
| |
16 | g.67436682C= | CA2229310466 | HSD11B2 | c.897C= (p.Tyr299=)
| |
16 | g.67436682C>G | CA396282072 | HSD11B2 | c.897C>G (p.Tyr299Ter)
| |
16 | g.67436682C>T | CA8110768 | HSD11B2 | c.897C>T (p.Tyr299=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436683A>C | CA396282085 | HSD11B2 | c.898A>C (p.Ile300Leu)
| |
16 | g.67436683A>G | CA396282090 | HSD11B2 | c.898A>G (p.Ile300Val)
| dbSNP gnomAD v4 |
16 | g.67436683A>T | CA396282092 | HSD11B2 | c.898A>T (p.Ile300Phe)
| |
16 | g.67436684T>A | CA396282100 | HSD11B2 | c.899T>A (p.Ile300Asn)
| |
16 | g.67436684T>C | CA396282108 | HSD11B2 | c.899T>C (p.Ile300Thr)
| |
16 | g.67436684T>G | CA396282112 | HSD11B2 | c.899T>G (p.Ile300Ser)
| |
16 | g.67436685C>A | CA8110769 | HSD11B2 | c.900C>A (p.Ile300=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436685C= | CA2229310469 | HSD11B2 | c.900C= (p.Ile300=)
| |
16 | g.67436685C>G | CA396282118 | HSD11B2 | c.900C>G (p.Ile300Met)
| |
16 | g.67436685C>T | CA496083020 | HSD11B2 | c.900C>T (p.Ile300=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436686G>A | CA282323278 | HSD11B2 | c.901G>A (p.Glu301Lys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436686G>C | CA396282124 | HSD11B2 | c.901G>C (p.Glu301Gln)
| |
16 | g.67436686G= | CA2229310471 | HSD11B2 | c.901G= (p.Glu301=)
| |
16 | g.67436686G>T | CA396282122 | HSD11B2 | c.901G>T (p.Glu301Ter)
| |
16 | g.67436687A>C | CA396282136 | HSD11B2 | c.902A>C (p.Glu301Ala)
| |
16 | g.67436687A>G | CA396282145 | HSD11B2 | c.902A>G (p.Glu301Gly)
| |
16 | g.67436687A>T | CA396282138 | HSD11B2 | c.902A>T (p.Glu301Val)
| |
16 | g.67436688G>A | CA496083021 | HSD11B2 | c.903G>A (p.Glu301=)
| ClinVar dbSNP gnomAD v4 |
16 | g.67436688G>C | CA396282148 | HSD11B2 | c.903G>C (p.Glu301Asp)
| |
16 | g.67436688G= | CA2229310474 | HSD11B2 | c.903G= (p.Glu301=)
| |
16 | g.67436688G>T | CA396282152 | HSD11B2 | c.903G>T (p.Glu301Asp)
| |
16 | g.67436689C>A | CA396282154 | HSD11B2 | c.904C>A (p.His302Asn)
| |
16 | g.67436689C>G | CA396282156 | HSD11B2 | c.904C>G (p.His302Asp)
| gnomAD v4 |
16 | g.67436689C>T | CA396282157 | HSD11B2 | c.904C>T (p.His302Tyr)
| |
16 | g.67436690A= | CA2229310478 | HSD11B2 | c.905A= (p.His302=)
| |
16 | g.67436690A>C | CA396282158 | HSD11B2 | c.905A>C (p.His302Pro)
| |
16 | g.67436690A>G | CA396282160 | HSD11B2 | c.905A>G (p.His302Arg)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436690A>T | CA396282162 | HSD11B2 | c.905A>T (p.His302Leu)
| |
16 | g.67436691C>A | CA396282165 | HSD11B2 | c.906C>A (p.His302Gln)
| |
16 | g.67436691C>G | CA396282167 | HSD11B2 | c.906C>G (p.His302Gln)
| |
16 | g.67436691C>T | CA496083022 | HSD11B2 | c.906C>T (p.His302=)
| |
16 | g.67436692T>A | CA396282169 | HSD11B2 | c.907T>A (p.Leu303Met)
| |
16 | g.67436692T>C | CA8110770 | HSD11B2 | c.907T>C (p.Leu303=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436692T>G | CA396282172 | HSD11B2 | c.907T>G (p.Leu303Val)
| |
16 | g.67436692T= | CA2229310480 | HSD11B2 | c.907T= (p.Leu303=)
| |
16 | g.67436693T>A | CA396282175 | HSD11B2 | c.908T>A (p.Leu303Ter)
| |
16 | g.67436693T>C | CA8110771 | HSD11B2 | c.908T>C (p.Leu303Ser)
| dbSNP ExAC gnomAD v2 |
16 | g.67436693T>G | CA396282176 | HSD11B2 | c.908T>G (p.Leu303Trp)
| |
16 | g.67436693T= | CA2229310483 | HSD11B2 | c.908T= (p.Leu303=)
| |
16 | g.67436694G>A | CA8110772 | HSD11B2 | c.909G>A (p.Leu303=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436694G>C | CA396282178 | HSD11B2 | c.909G>C (p.Leu303Phe)
| |
16 | g.67436694G= | CA2229310487 | HSD11B2 | c.909G= (p.Leu303=)
| |
16 | g.67436694G>T | CA396282177 | HSD11B2 | c.909G>T (p.Leu303Phe)
| |
16 | g.67436695C>A | CA8110773 | HSD11B2 | c.910C>A (p.His304Asn)
| dbSNP ExAC gnomAD v2 |
16 | g.67436695C= | CA2229310489 | HSD11B2 | c.910C= (p.His304=)
| |
16 | g.67436695C>G | CA396282179 | HSD11B2 | c.910C>G (p.His304Asp)
| |
16 | g.67436695C>T | CA396282180 | HSD11B2 | c.910C>T (p.His304Tyr)
| |
16 | g.67436696A>C | CA396282181 | HSD11B2 | c.911A>C (p.His304Pro)
| |
16 | g.67436696A>G | CA396282183 | HSD11B2 | c.911A>G (p.His304Arg)
| |
16 | g.67436696A>T | CA396282184 | HSD11B2 | c.911A>T (p.His304Leu)
| |
16 | g.67436696_67436697insCTACAT | CA2576029231 | HSD11B2 | c.911_912insCTACAT (p.His304_Gly305insTyrIle)
| |
16 | g.67436697T>A | CA396282186 | HSD11B2 | c.912T>A (p.His304Gln)
| gnomAD v4 |
16 | g.67436697T>C | CA8110774 | HSD11B2 | c.912T>C (p.His304=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436697T>G | CA396282188 | HSD11B2 | c.912T>G (p.His304Gln)
| |
16 | g.67436697T= | CA2229310494 | HSD11B2 | c.912T= (p.His304=)
| |
16 | g.67436699_67436709del | CA2695223627 | HSD11B2 | c.914_924del (p.Gly305AlafsTer?)
| |
16 | g.67436698G>A | CA396282190 | HSD11B2 | c.913G>A (p.Gly305Arg)
| |
16 | g.67436698G>C | CA396282191 | HSD11B2 | c.913G>C (p.Gly305Arg)
| |
16 | g.67436698G>T | CA396282197 | HSD11B2 | c.913G>T (p.Gly305Trp)
| |
16 | g.67436699G>A | CA396282198 | HSD11B2 | c.914G>A (p.Gly305Glu)
| |
16 | g.67436699G>C | CA396282200 | HSD11B2 | c.914G>C (p.Gly305Ala)
| |
16 | g.67436699G>T | CA396282199 | HSD11B2 | c.914G>T (p.Gly305Val)
| |
16 | g.67436700G>A | CA496083023 | HSD11B2 | c.915G>A (p.Gly305=)
| gnomAD v4 |
16 | g.67436700G>C | CA496083024 | HSD11B2 | c.915G>C (p.Gly305=)
| |
16 | g.67436700G>T | CA496083025 | HSD11B2 | c.915G>T (p.Gly305=)
| |
16 | g.67436701C>A | CA396282201 | HSD11B2 | c.916C>A (p.Gln306Lys)
| |
16 | g.67436701C>G | CA396282203 | HSD11B2 | c.916C>G (p.Gln306Glu)
| |
16 | g.67436701C>T | CA396282204 | HSD11B2 | c.916C>T (p.Gln306Ter)
| |
16 | g.67436702A>C | CA396282207 | HSD11B2 | c.917A>C (p.Gln306Pro)
| |
16 | g.67436702A>G | CA396282208 | HSD11B2 | c.917A>G (p.Gln306Arg)
| |
16 | g.67436702A>T | CA396282211 | HSD11B2 | c.917A>T (p.Gln306Leu)
| |
16 | g.67436703G>A | CA496083026 | HSD11B2 | c.918G>A (p.Gln306=)
| dbSNP gnomAD v2 |
16 | g.67436703G>C | CA396282215 | HSD11B2 | c.918G>C (p.Gln306His)
| |
16 | g.67436703G= | CA2229310498 | HSD11B2 | c.918G= (p.Gln306=)
| |
16 | g.67436703G>T | CA396282214 | HSD11B2 | c.918G>T (p.Gln306His)
| |
16 | g.67436703_67436705del | CA2576029232 | HSD11B2 | c.918_920del (p.Gln306_Phe307delinsHis)
| |
16 | g.67436704T>A | CA396282218 | HSD11B2 | c.919T>A (p.Phe307Ile)
| |
16 | g.67436704T>C | CA396282220 | HSD11B2 | c.919T>C (p.Phe307Leu)
| |
16 | g.67436704T>G | CA396282223 | HSD11B2 | c.919T>G (p.Phe307Val)
| |
16 | g.67436705T>A | CA396282227 | HSD11B2 | c.920T>A (p.Phe307Tyr)
| |
16 | g.67436705T>C | CA396282228 | HSD11B2 | c.920T>C (p.Phe307Ser)
| |
16 | g.67436705T>G | CA396282230 | HSD11B2 | c.920T>G (p.Phe307Cys)
| |
16 | g.67436706C>A | CA396282235 | HSD11B2 | c.921C>A (p.Phe307Leu)
| |
16 | g.67436706C= | CA2229310501 | HSD11B2 | c.921C= (p.Phe307=)
| |
16 | g.67436706C>G | CA8110776 | HSD11B2 | c.921C>G (p.Phe307Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.67436706C>T | CA8110775 | HSD11B2 | c.921C>T (p.Phe307=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436707C>A | CA396282239 | HSD11B2 | c.922C>A (p.Leu308Met)
| |
16 | g.67436707C= | CA2229310503 | HSD11B2 | c.922C= (p.Leu308=)
| |
16 | g.67436707C>G | CA396282252 | HSD11B2 | c.922C>G (p.Leu308Val)
| dbSNP |
16 | g.67436707C>T | CA496083027 | HSD11B2 | c.922C>T (p.Leu308=)
| |
16 | g.67436708T>A | CA396282258 | HSD11B2 | c.923T>A (p.Leu308Gln)
| gnomAD v4 |
16 | g.67436708T>C | CA396282270 | HSD11B2 | c.923T>C (p.Leu308Pro)
| |
16 | g.67436708T>G | CA396282276 | HSD11B2 | c.923T>G (p.Leu308Arg)
| |
16 | g.67436709G>A | CA496083028 | HSD11B2 | c.924G>A (p.Leu308=)
| |
16 | g.67436709G>C | CA496083029 | HSD11B2 | c.924G>C (p.Leu308=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436709G= | CA2229310505 | HSD11B2 | c.924G= (p.Leu308=)
| |
16 | g.67436709G>T | CA496083030 | HSD11B2 | c.924G>T (p.Leu308=)
| |
16 | g.67436710C>A | CA396282284 | HSD11B2 | c.925C>A (p.His309Asn)
| |
16 | g.67436710C= | CA2229310507 | HSD11B2 | c.925C= (p.His309=)
| |
16 | g.67436710C>G | CA396282288 | HSD11B2 | c.925C>G (p.His309Asp)
| |
16 | g.67436710C>T | CA282323329 | HSD11B2 | c.925C>T (p.His309Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436711A>C | CA396282295 | HSD11B2 | c.926A>C (p.His309Pro)
| |
16 | g.67436711A>G | CA396282297 | HSD11B2 | c.926A>G (p.His309Arg)
| |
16 | g.67436711A>T | CA396282300 | HSD11B2 | c.926A>T (p.His309Leu)
| |
16 | g.67436711_67436721delinsACTCGCTACGC | CA2229310511 | HSD11B2 | c.926_936delinsACTCGCTACGC (p.His309=)
| |
16 | g.67436712C>A | CA396282313 | HSD11B2 | c.927C>A (p.His309Gln)
| |
16 | g.67436712C= | CA2229310515 | HSD11B2 | c.927C= (p.His309=)
| |
16 | g.67436712C>G | CA396282307 | HSD11B2 | c.927C>G (p.His309Gln)
| dbSNP |
16 | g.67436712C>T | CA496083031 | HSD11B2 | c.927C>T (p.His309=)
| gnomAD v4 |
16 | g.67436714_67436723del | CA8110777 | HSD11B2 | c.929_938del (p.Ser310TrpfsTer10)
| dbSNP ExAC gnomAD v2 |
16 | g.67436713T>A | CA396282319 | HSD11B2 | c.928T>A (p.Ser310Thr)
| |
16 | g.67436713T>C | CA396282321 | HSD11B2 | c.928T>C (p.Ser310Pro)
| |
16 | g.67436713T>G | CA396282324 | HSD11B2 | c.928T>G (p.Ser310Ala)
| |
16 | g.67436714C>A | CA396282328 | HSD11B2 | c.929C>A (p.Ser310Ter)
| |
16 | g.67436714C= | CA2229310518 | HSD11B2 | c.929C= (p.Ser310=)
| |
16 | g.67436714C>G | CA8110778 | HSD11B2 | c.929C>G (p.Ser310Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436714C>T | CA396282332 | HSD11B2 | c.929C>T (p.Ser310Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436715G>A | CA8110779 | HSD11B2 | c.930G>A (p.Ser310=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436715G>C | CA496083032 | HSD11B2 | c.930G>C (p.Ser310=)
| gnomAD v4 |
16 | g.67436715G= | CA2229310521 | HSD11B2 | c.930G= (p.Ser310=)
| |
16 | g.67436715G>T | CA496083033 | HSD11B2 | c.930G>T (p.Ser310=)
| |
16 | g.67436716C>A | CA396282340 | HSD11B2 | c.931C>A (p.Leu311Ile)
| |
16 | g.67436716C= | CA2229310525 | HSD11B2 | c.931C= (p.Leu311=)
| |
16 | g.67436716C>G | CA396282343 | HSD11B2 | c.931C>G (p.Leu311Val)
| |
16 | g.67436716C>T | CA8110780 | HSD11B2 | c.931C>T (p.Leu311=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436717T>A | CA396282347 | HSD11B2 | c.932T>A (p.Leu311Gln)
| |
16 | g.67436717T>C | CA396282350 | HSD11B2 | c.932T>C (p.Leu311Pro)
| |
16 | g.67436717T>G | CA396282358 | HSD11B2 | c.932T>G (p.Leu311Arg)
| |
16 | g.67436718A>C | CA496083034 | HSD11B2 | c.933A>C (p.Leu311=)
| |
16 | g.67436718A>G | CA496083035 | HSD11B2 | c.933A>G (p.Leu311=)
| |
16 | g.67436718A>T | CA496083036 | HSD11B2 | c.933A>T (p.Leu311=)
| |
16 | g.67436719C>A | CA396282364 | HSD11B2 | c.934C>A (p.Arg312Ser)
| gnomAD v4 |
16 | g.67436719C= | CA2229310527 | HSD11B2 | c.934C= (p.Arg312=)
| |
16 | g.67436719C>G | CA8110782 | HSD11B2 | c.934C>G (p.Arg312Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436719C>T | CA8110781 | HSD11B2 | c.934C>T (p.Arg312Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436720G>A | CA8110783 | HSD11B2 | c.935G>A (p.Arg312His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436720G>C | CA396282369 | HSD11B2 | c.935G>C (p.Arg312Pro)
| |
16 | g.67436720G= | CA2229310533 | HSD11B2 | c.935G= (p.Arg312=)
| |
16 | g.67436720G>T | CA396282372 | HSD11B2 | c.935G>T (p.Arg312Leu)
| |
16 | g.67436721C>A | CA496083037 | HSD11B2 | c.936C>A (p.Arg312=)
| gnomAD v4 |
16 | g.67436721C>G | CA496083039 | HSD11B2 | c.936C>G (p.Arg312=)
| |
16 | g.67436721C>T | CA496083038 | HSD11B2 | c.936C>T (p.Arg312=)
| |