16 | g.67436320T>A | CA8110729 | HSD11B2 | c.736T>A (p.Phe246Ile)
| dbSNP ExAC gnomAD v2 |
16 | g.67436320T>C | CA396280724 | HSD11B2 | c.736T>C (p.Phe246Leu)
| |
16 | g.67436320T>G | CA396280721 | HSD11B2 | c.736T>G (p.Phe246Val)
| |
16 | g.67436320T= | CA2229310062 | HSD11B2 | c.736T= (p.Phe246=)
| |
16 | g.67436321dup | CA623119600 | HSD11B2 | c.737dup (p.Ser247GlnfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436321T>A | CA396280731 | HSD11B2 | c.737T>A (p.Phe246Tyr)
| |
16 | g.67436321T>C | CA396280740 | HSD11B2 | c.737T>C (p.Phe246Ser)
| |
16 | g.67436321T>G | CA396280741 | HSD11B2 | c.737T>G (p.Phe246Cys)
| |
16 | g.67436322C>A | CA396280743 | HSD11B2 | c.738C>A (p.Phe246Leu)
| |
16 | g.67436322C>G | CA396280744 | HSD11B2 | c.738C>G (p.Phe246Leu)
| |
16 | g.67436322C>T | CA496082829 | HSD11B2 | c.738C>T (p.Phe246=)
| gnomAD v4 |
16 | g.67436323A>C | CA396280746 | HSD11B2 | c.739A>C (p.Ser247Arg)
| |
16 | g.67436323A>G | CA396280748 | HSD11B2 | c.739A>G (p.Ser247Gly)
| |
16 | g.67436323A>T | CA396280750 | HSD11B2 | c.739A>T (p.Ser247Cys)
| |
16 | g.67436324G>A | CA396280756 | HSD11B2 | c.740G>A (p.Ser247Asn)
| |
16 | g.67436324G>C | CA396280760 | HSD11B2 | c.740G>C (p.Ser247Thr)
| |
16 | g.67436324G>T | CA396280763 | HSD11B2 | c.740G>T (p.Ser247Ile)
| |
16 | g.67436325C>A | CA396280765 | HSD11B2 | c.741C>A (p.Ser247Arg)
| |
16 | g.67436325C>G | CA396280771 | HSD11B2 | c.741C>G (p.Ser247Arg)
| |
16 | g.67436325C>T | CA496082838 | HSD11B2 | c.741C>T (p.Ser247=)
| gnomAD v4 |
16 | g.67436326T>A | CA396280777 | HSD11B2 | c.742T>A (p.Cys248Ser)
| |
16 | g.67436326T>C | CA396280774 | HSD11B2 | c.742T>C (p.Cys248Arg)
| |
16 | g.67436326T>G | CA396280773 | HSD11B2 | c.742T>G (p.Cys248Gly)
| |
16 | g.67436327G>A | CA396280780 | HSD11B2 | c.743G>A (p.Cys248Tyr)
| |
16 | g.67436327G>C | CA396280783 | HSD11B2 | c.743G>C (p.Cys248Ser)
| |
16 | g.67436327G>T | CA396280787 | HSD11B2 | c.743G>T (p.Cys248Phe)
| |
16 | g.67436328T>A | CA396280792 | HSD11B2 | c.744T>A (p.Cys248Ter)
| |
16 | g.67436328T>C | CA496082841 | HSD11B2 | c.744T>C (p.Cys248=)
| |
16 | g.67436328T>G | CA396280796 | HSD11B2 | c.744T>G (p.Cys248Trp)
| |
16 | g.67436329G>A | CA396280801 | HSD11B2 | c.745G>A (p.Glu249Lys)
| ClinVar gnomAD v4 |
16 | g.67436329G>C | CA396280818 | HSD11B2 | c.745G>C (p.Glu249Gln)
| |
16 | g.67436329G>T | CA396280823 | HSD11B2 | c.745G>T (p.Glu249Ter)
| |
16 | g.67436330A>C | CA396280829 | HSD11B2 | c.746A>C (p.Glu249Ala)
| |
16 | g.67436330A>G | CA396280833 | HSD11B2 | c.746A>G (p.Glu249Gly)
| |
16 | g.67436330A>T | CA396280835 | HSD11B2 | c.746A>T (p.Glu249Val)
| |
16 | g.67436331A>C | CA396280836 | HSD11B2 | c.747A>C (p.Glu249Asp)
| |
16 | g.67436331A>G | CA496082849 | HSD11B2 | c.747A>G (p.Glu249=)
| |
16 | g.67436331A>T | CA396280837 | HSD11B2 | c.747A>T (p.Glu249Asp)
| |
16 | g.67436331_67436334delinsACTC | CA2229310065 | HSD11B2 | c.747_750delinsACTC (p.Glu249=)
| |
16 | g.67436332C>A | CA396280842 | HSD11B2 | c.748C>A (p.Leu250Ile)
| |
16 | g.67436332C>G | CA396280845 | HSD11B2 | c.748C>G (p.Leu250Val)
| |
16 | g.67436332C>T | CA396280838 | HSD11B2 | c.748C>T (p.Leu250Phe)
| |
16 | g.67436334_67436336del | CA723037089 | HSD11B2 | c.750_752del (p.Leu251del)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436333T>A | CA396280848 | HSD11B2 | c.749T>A (p.Leu250His)
| |
16 | g.67436333T>C | CA8110730 | HSD11B2 | c.749T>C (p.Leu250Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436333T>G | CA396280852 | HSD11B2 | c.749T>G (p.Leu250Arg)
| |
16 | g.67436333T= | CA2229310069 | HSD11B2 | c.749T= (p.Leu250=)
| |
16 | g.67436333_67436336delinsCCTC | CA2695223625 | HSD11B2 | c.749_752delinsCCTC (p.Leu250_Leu251delinsProSer)
| |
16 | g.67436334C>A | CA496082855 | HSD11B2 | c.750C>A (p.Leu250=)
| |
16 | g.67436334C= | CA2229310072 | HSD11B2 | c.750C= (p.Leu250=)
| |
16 | g.67436334C>G | CA496082856 | HSD11B2 | c.750C>G (p.Leu250=)
| |
16 | g.67436334C>T | CA8110731 | HSD11B2 | c.750C>T (p.Leu250=)
| dbSNP ExAC gnomAD v4 |
16 | g.67436335C>A | CA396280859 | HSD11B2 | c.751C>A (p.Leu251Ile)
| |
16 | g.67436335C>G | CA396280860 | HSD11B2 | c.751C>G (p.Leu251Val)
| |
16 | g.67436335C>T | CA396280865 | HSD11B2 | c.751C>T (p.Leu251Phe)
| |
16 | g.67436336T>A | CA396280870 | HSD11B2 | c.752T>A (p.Leu251His)
| |
16 | g.67436336T>C | CA396280875 | HSD11B2 | c.752T>C (p.Leu251Pro)
| |
16 | g.67436336T>G | CA396280878 | HSD11B2 | c.752T>G (p.Leu251Arg)
| |
16 | g.67436337T>A | CA496082863 | HSD11B2 | c.753T>A (p.Leu251=)
| |
16 | g.67436337T>C | CA496082867 | HSD11B2 | c.753T>C (p.Leu251=)
| |
16 | g.67436337T>G | CA496082865 | HSD11B2 | c.753T>G (p.Leu251=)
| |
16 | g.67436338C>A | CA396280882 | HSD11B2 | c.754C>A (p.Pro252Thr)
| |
16 | g.67436338C>G | CA396280884 | HSD11B2 | c.754C>G (p.Pro252Ala)
| |
16 | g.67436338C>T | CA396280889 | HSD11B2 | c.754C>T (p.Pro252Ser)
| gnomAD v4 |
16 | g.67436339C>A | CA396280908 | HSD11B2 | c.755C>A (p.Pro252His)
| |
16 | g.67436339C>G | CA396280940 | HSD11B2 | c.755C>G (p.Pro252Arg)
| |
16 | g.67436339C>T | CA396280936 | HSD11B2 | c.755C>T (p.Pro252Leu)
| |
16 | g.67436340C>A | CA496082873 | HSD11B2 | c.756C>A (p.Pro252=)
| |
16 | g.67436340C= | CA2229310077 | HSD11B2 | c.756C= (p.Pro252=)
| |
16 | g.67436340C>G | CA8110732 | HSD11B2 | c.756C>G (p.Pro252=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436340C>T | CA496082874 | HSD11B2 | c.756C>T (p.Pro252=)
| gnomAD v4 |
16 | g.67436341T>A | CA396280952 | HSD11B2 | c.757T>A (p.Trp253Arg)
| |
16 | g.67436341T>C | CA396280956 | HSD11B2 | c.757T>C (p.Trp253Arg)
| |
16 | g.67436341T>G | CA396280962 | HSD11B2 | c.757T>G (p.Trp253Gly)
| |
16 | g.67436341T= | CA2229310080 | HSD11B2 | c.757T= (p.Trp253=)
| |
16 | g.67436342G>A | CA396280964 | HSD11B2 | c.758G>A (p.Trp253Ter)
| dbSNP |
16 | g.67436342G>C | CA396280968 | HSD11B2 | c.758G>C (p.Trp253Ser)
| gnomAD v4 |
16 | g.67436342G>T | CA396280974 | HSD11B2 | c.758G>T (p.Trp253Leu)
| |
16 | g.67436347dup | CA623119601 | HSD11B2 | c.763dup (p.Val255GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436347del | CA645586895 | HSD11B2 | c.763del (p.Val255SerfsTer16)
| gnomAD v4 COSMIC |
16 | g.67436343G>A | CA396280977 | HSD11B2 | c.759G>A (p.Trp253Ter)
| COSMIC |
16 | g.67436343G>C | CA396280978 | HSD11B2 | c.759G>C (p.Trp253Cys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436343G= | CA2229310086 | HSD11B2 | c.759G= (p.Trp253=)
| |
16 | g.67436343G>T | CA396280982 | HSD11B2 | c.759G>T (p.Trp253Cys)
| |
16 | g.67436344G>A | CA396280987 | HSD11B2 | c.760G>A (p.Gly254Arg)
| |
16 | g.67436344G>C | CA396280996 | HSD11B2 | c.760G>C (p.Gly254Arg)
| |
16 | g.67436344G= | CA2229310091 | HSD11B2 | c.760G= (p.Gly254=)
| |
16 | g.67436344G>T | CA396280984 | HSD11B2 | c.760G>T (p.Gly254Trp)
| dbSNP |
16 | g.67436345G>A | CA396281000 | HSD11B2 | c.761G>A (p.Gly254Glu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436345G>C | CA396281005 | HSD11B2 | c.761G>C (p.Gly254Ala)
| |
16 | g.67436345G= | CA2229310095 | HSD11B2 | c.761G= (p.Gly254=)
| |
16 | g.67436345G>T | CA396281008 | HSD11B2 | c.761G>T (p.Gly254Val)
| |
16 | g.67436346G>A | CA496082881 | HSD11B2 | c.762G>A (p.Gly254=)
| |
16 | g.67436346G>C | CA496082882 | HSD11B2 | c.762G>C (p.Gly254=)
| gnomAD v4 |
16 | g.67436346G= | CA2229310097 | HSD11B2 | c.762G= (p.Gly254=)
| |
16 | g.67436346G>T | CA496082884 | HSD11B2 | c.762G>T (p.Gly254=)
| dbSNP |
16 | g.67436347G>A | CA396281016 | HSD11B2 | c.763G>A (p.Val255Ile)
| dbSNP gnomAD v4 |
16 | g.67436347G>C | CA396281031 | HSD11B2 | c.763G>C (p.Val255Leu)
| |
16 | g.67436347G= | CA2229310099 | HSD11B2 | c.763G= (p.Val255=)
| |
16 | g.67436347G>T | CA396281035 | HSD11B2 | c.763G>T (p.Val255Phe)
| dbSNP gnomAD v4 |
16 | g.67436348T>A | CA396281039 | HSD11B2 | c.764T>A (p.Val255Asp)
| |
16 | g.67436348T>C | CA396281043 | HSD11B2 | c.764T>C (p.Val255Ala)
| |
16 | g.67436348T>G | CA396281048 | HSD11B2 | c.764T>G (p.Val255Gly)
| |
16 | g.67436349C>A | CA496082886 | HSD11B2 | c.765C>A (p.Val255=)
| |
16 | g.67436349C= | CA2229310103 | HSD11B2 | c.765C= (p.Val255=)
| |
16 | g.67436349C>G | CA496082887 | HSD11B2 | c.765C>G (p.Val255=)
| |
16 | g.67436349C>T | CA282322908 | HSD11B2 | c.765C>T (p.Val255=)
| dbSNP |
16 | g.67436350A>C | CA396281051 | HSD11B2 | c.766A>C (p.Lys256Gln)
| |
16 | g.67436350A>G | CA396281053 | HSD11B2 | c.766A>G (p.Lys256Glu)
| |
16 | g.67436350A>T | CA396281058 | HSD11B2 | c.766A>T (p.Lys256Ter)
| |
16 | g.67436351A>C | CA396281064 | HSD11B2 | c.767A>C (p.Lys256Thr)
| |
16 | g.67436351A>G | CA396281066 | HSD11B2 | c.767A>G (p.Lys256Arg)
| |
16 | g.67436351A>T | CA396281071 | HSD11B2 | c.767A>T (p.Lys256Met)
| |
16 | g.67436352G>A | CA496082890 | HSD11B2 | c.768G>A (p.Lys256=)
| |
16 | g.67436352G>C | CA396281078 | HSD11B2 | c.768G>C (p.Lys256Asn)
| gnomAD v4 |
16 | g.67436352G>T | CA396281091 | HSD11B2 | c.768G>T (p.Lys256Asn)
| |
16 | g.67436353G>A | CA396281095 | HSD11B2 | c.769G>A (p.Val257Ile)
| dbSNP gnomAD v4 |
16 | g.67436353G>C | CA396281098 | HSD11B2 | c.769G>C (p.Val257Leu)
| |
16 | g.67436353G= | CA2229310108 | HSD11B2 | c.769G= (p.Val257=)
| |
16 | g.67436353G>T | CA396281101 | HSD11B2 | c.769G>T (p.Val257Phe)
| |
16 | g.67436354T>A | CA396281115 | HSD11B2 | c.770T>A (p.Val257Asp)
| |
16 | g.67436354T>C | CA396281122 | HSD11B2 | c.770T>C (p.Val257Ala)
| |
16 | g.67436354T>G | CA396281125 | HSD11B2 | c.770T>G (p.Val257Gly)
| |
16 | g.67436355C>A | CA496082892 | HSD11B2 | c.771C>A (p.Val257=)
| |
16 | g.67436355C>G | CA496082893 | HSD11B2 | c.771C>G (p.Val257=)
| |
16 | g.67436355C>T | CA496082894 | HSD11B2 | c.771C>T (p.Val257=)
| |
16 | g.67436356A>C | CA396281143 | HSD11B2 | c.772A>C (p.Ser258Arg)
| |
16 | g.67436356A>G | CA396281132 | HSD11B2 | c.772A>G (p.Ser258Gly)
| |
16 | g.67436356A>T | CA396281135 | HSD11B2 | c.772A>T (p.Ser258Cys)
| gnomAD v4 |
16 | g.67436357G>A | CA396281147 | HSD11B2 | c.773G>A (p.Ser258Asn)
| |
16 | g.67436357G>C | CA396281150 | HSD11B2 | c.773G>C (p.Ser258Thr)
| |
16 | g.67436357G>T | CA396281157 | HSD11B2 | c.773G>T (p.Ser258Ile)
| |
16 | g.67436358C>A | CA396281162 | HSD11B2 | c.774C>A (p.Ser258Arg)
| |
16 | g.67436358C>G | CA396281163 | HSD11B2 | c.774C>G (p.Ser258Arg)
| |
16 | g.67436358C>T | CA496082896 | HSD11B2 | c.774C>T (p.Ser258=)
| gnomAD v4 |
16 | g.67436359A>C | CA396281165 | HSD11B2 | c.775A>C (p.Ile259Leu)
| |
16 | g.67436359A>G | CA396281169 | HSD11B2 | c.775A>G (p.Ile259Val)
| gnomAD v4 |
16 | g.67436359A>T | CA396281166 | HSD11B2 | c.775A>T (p.Ile259Phe)
| |
16 | g.67436360T>A | CA396281174 | HSD11B2 | c.776T>A (p.Ile259Asn)
| |
16 | g.67436360T>C | CA396281177 | HSD11B2 | c.776T>C (p.Ile259Thr)
| gnomAD v4 |
16 | g.67436360T>G | CA396281180 | HSD11B2 | c.776T>G (p.Ile259Ser)
| |
16 | g.67436365_67436366insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCC | CA978416354 | HSD11B2 | c.781_782insCCCACCCCAGGGGGCTCCTTTTTGCTCCAGTGGGGGGGGGCACTCACCCGCTGGGCTCCCCACAGTCACGATGCGGCCCCTTGAGCTGCGCAGCAGGGGCAGGAGGCCCTTGGTCAGCTCGAGCGCGCCAAAGAAATTCACCTCATCC (p.Gln261ProfsTer?)
| gnomAD v3 gnomAD v4 |
16 | g.67436361C>A | CA496082899 | HSD11B2 | c.777C>A (p.Ile259=)
| |
16 | g.67436361C>G | CA396281184 | HSD11B2 | c.777C>G (p.Ile259Met)
| |
16 | g.67436361C>T | CA496082901 | HSD11B2 | c.777C>T (p.Ile259=)
| gnomAD v4 |
16 | g.67436362A>C | CA396281187 | HSD11B2 | c.778A>C (p.Ile260Leu)
| |
16 | g.67436362A>G | CA396281189 | HSD11B2 | c.778A>G (p.Ile260Val)
| |
16 | g.67436362A>T | CA396281190 | HSD11B2 | c.778A>T (p.Ile260Phe)
| |
16 | g.67436363T>A | CA396281193 | HSD11B2 | c.779T>A (p.Ile260Asn)
| |
16 | g.67436363T>C | CA396281197 | HSD11B2 | c.779T>C (p.Ile260Thr)
| |
16 | g.67436363T>G | CA396281194 | HSD11B2 | c.779T>G (p.Ile260Ser)
| |
16 | g.67436364C>A | CA496082903 | HSD11B2 | c.780C>A (p.Ile260=)
| |
16 | g.67436364C= | CA2229310109 | HSD11B2 | c.780C= (p.Ile260=)
| |
16 | g.67436364C>G | CA396281201 | HSD11B2 | c.780C>G (p.Ile260Met)
| |
16 | g.67436364C>T | CA282322923 | HSD11B2 | c.780C>T (p.Ile260=)
| dbSNP |
16 | g.67436365C>A | CA396281205 | HSD11B2 | c.781C>A (p.Gln261Lys)
| dbSNP gnomAD v2 COSMIC |
16 | g.67436365C= | CA2229310112 | HSD11B2 | c.781C= (p.Gln261=)
| |
16 | g.67436365C>G | CA396281207 | HSD11B2 | c.781C>G (p.Gln261Glu)
| |
16 | g.67436365C>T | CA396281210 | HSD11B2 | c.781C>T (p.Gln261Ter)
| |
16 | g.67436366A>C | CA396281218 | HSD11B2 | c.782A>C (p.Gln261Pro)
| |
16 | g.67436366A>G | CA396281227 | HSD11B2 | c.782A>G (p.Gln261Arg)
| |
16 | g.67436366A>T | CA396281221 | HSD11B2 | c.782A>T (p.Gln261Leu)
| |
16 | g.67436367G>A | CA496082907 | HSD11B2 | c.783G>A (p.Gln261=)
| dbSNP |
16 | g.67436367G>C | CA396281230 | HSD11B2 | c.783G>C (p.Gln261His)
| |
16 | g.67436367G= | CA2229310114 | HSD11B2 | c.783G= (p.Gln261=)
| |
16 | g.67436367G>T | CA396281231 | HSD11B2 | c.783G>T (p.Gln261His)
| |
16 | g.67436368C>A | CA396281232 | HSD11B2 | c.784C>A (p.Pro262Thr)
| |
16 | g.67436368C= | CA2229310117 | HSD11B2 | c.784C= (p.Pro262=)
| |
16 | g.67436368C>G | CA396281233 | HSD11B2 | c.784C>G (p.Pro262Ala)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436368C>T | CA282322933 | HSD11B2 | c.784C>T (p.Pro262Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436369C>A | CA396281236 | HSD11B2 | c.785C>A (p.Pro262His)
| |
16 | g.67436369C>G | CA396281238 | HSD11B2 | c.785C>G (p.Pro262Arg)
| |
16 | g.67436369C>T | CA396281241 | HSD11B2 | c.785C>T (p.Pro262Leu)
| |
16 | g.67436370T>A | CA496082910 | HSD11B2 | c.786T>A (p.Pro262=)
| |
16 | g.67436370T>C | CA496082911 | HSD11B2 | c.786T>C (p.Pro262=)
| |
16 | g.67436370T>G | CA496082912 | HSD11B2 | c.786T>G (p.Pro262=)
| |
16 | g.67436371G>A | CA396281245 | HSD11B2 | c.787G>A (p.Gly263Ser)
| |
16 | g.67436371G>C | CA396281249 | HSD11B2 | c.787G>C (p.Gly263Arg)
| |
16 | g.67436371G>T | CA396281260 | HSD11B2 | c.787G>T (p.Gly263Cys)
| |
16 | g.67436372G>A | CA396281261 | HSD11B2 | c.788G>A (p.Gly263Asp)
| |
16 | g.67436372G>C | CA396281265 | HSD11B2 | c.788G>C (p.Gly263Ala)
| |
16 | g.67436372G>T | CA396281262 | HSD11B2 | c.788G>T (p.Gly263Val)
| |
16 | g.67436373C>A | CA496082916 | HSD11B2 | c.789C>A (p.Gly263=)
| |
16 | g.67436373C>G | CA496082914 | HSD11B2 | c.789C>G (p.Gly263=)
| |
16 | g.67436373C>T | CA496082915 | HSD11B2 | c.789C>T (p.Gly263=)
| |
16 | g.67436374T>A | CA396281266 | HSD11B2 | c.790T>A (p.Cys264Ser)
| |
16 | g.67436374T>C | CA396281271 | HSD11B2 | c.790T>C (p.Cys264Arg)
| |
16 | g.67436374T>G | CA396281267 | HSD11B2 | c.790T>G (p.Cys264Gly)
| |
16 | g.67436375G>A | CA396281278 | HSD11B2 | c.791G>A (p.Cys264Tyr)
| |
16 | g.67436375G>C | CA396281283 | HSD11B2 | c.791G>C (p.Cys264Ser)
| |
16 | g.67436375G>T | CA396281285 | HSD11B2 | c.791G>T (p.Cys264Phe)
| gnomAD v4 |
16 | g.67436376C>A | CA396281289 | HSD11B2 | c.792C>A (p.Cys264Ter)
| |
16 | g.67436376C>G | CA396281292 | HSD11B2 | c.792C>G (p.Cys264Trp)
| |
16 | g.67436376C>T | CA496082919 | HSD11B2 | c.792C>T (p.Cys264=)
| |
16 | g.67436377T>A | CA396281296 | HSD11B2 | c.793T>A (p.Phe265Ile)
| |
16 | g.67436377T>C | CA396281299 | HSD11B2 | c.793T>C (p.Phe265Leu)
| |
16 | g.67436377T>G | CA396281301 | HSD11B2 | c.793T>G (p.Phe265Val)
| |
16 | g.67436378T>A | CA396281308 | HSD11B2 | c.794T>A (p.Phe265Tyr)
| gnomAD v4 |
16 | g.67436378T>C | CA396281312 | HSD11B2 | c.794T>C (p.Phe265Ser)
| |
16 | g.67436378T>G | CA396281318 | HSD11B2 | c.794T>G (p.Phe265Cys)
| |
16 | g.67436379C>A | CA396281324 | HSD11B2 | c.795C>A (p.Phe265Leu)
| gnomAD v4 |
16 | g.67436379C>G | CA396281321 | HSD11B2 | c.795C>G (p.Phe265Leu)
| |
16 | g.67436379C>T | CA496082922 | HSD11B2 | c.795C>T (p.Phe265=)
| gnomAD v4 |
16 | g.67436380A>C | CA396281330 | HSD11B2 | c.796A>C (p.Lys266Gln)
| |
16 | g.67436380A>G | CA396281332 | HSD11B2 | c.796A>G (p.Lys266Glu)
| |
16 | g.67436380A>T | CA396281336 | HSD11B2 | c.796A>T (p.Lys266Ter)
| |
16 | g.67436381A>C | CA396281342 | HSD11B2 | c.797A>C (p.Lys266Thr)
| |
16 | g.67436381A>G | CA396281346 | HSD11B2 | c.797A>G (p.Lys266Arg)
| |
16 | g.67436381A>T | CA396281349 | HSD11B2 | c.797A>T (p.Lys266Met)
| |
16 | g.67436382G>A | CA8110733 | HSD11B2 | c.798G>A (p.Lys266=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436382G>C | CA396281355 | HSD11B2 | c.798G>C (p.Lys266Asn)
| |
16 | g.67436382G= | CA2229310120 | HSD11B2 | c.798G= (p.Lys266=)
| |
16 | g.67436382G>T | CA396281357 | HSD11B2 | c.798G>T (p.Lys266Asn)
| gnomAD v4 |
16 | g.67436383A>C | CA396281361 | HSD11B2 | c.799A>C (p.Thr267Pro)
| |
16 | g.67436383A>G | CA396281364 | HSD11B2 | c.799A>G (p.Thr267Ala)
| |
16 | g.67436383A>T | CA396281366 | HSD11B2 | c.799A>T (p.Thr267Ser)
| |
16 | g.67436384_67436385del | CA2633779476 | HSD11B2 | c.800_801del (p.Thr267ArgfsTer?)
| gnomAD v4 |
16 | g.67436384C>A | CA396281373 | HSD11B2 | c.800C>A (p.Thr267Lys)
| gnomAD v4 |
16 | g.67436384C= | CA2229310123 | HSD11B2 | c.800C= (p.Thr267=)
| |
16 | g.67436384C>G | CA396281408 | HSD11B2 | c.800C>G (p.Thr267Arg)
| gnomAD v4 |
16 | g.67436384C>T | CA396281370 | HSD11B2 | c.800C>T (p.Thr267Ile)
| |
16 | g.67436385A>C | CA496082927 | HSD11B2 | c.801A>C (p.Thr267=)
| |
16 | g.67436385A>G | CA496082928 | HSD11B2 | c.801A>G (p.Thr267=)
| gnomAD v4 |
16 | g.67436385A>T | CA496082929 | HSD11B2 | c.801A>T (p.Thr267=)
| |
16 | g.67436385_67436388dup | CA8110734 | HSD11B2 | c.801_802+2dup
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436386G>A | CA396281411 | HSD11B2 | c.802G>A (p.Glu268Lys)
| dbSNP gnomAD v4 |
16 | g.67436386G>C | CA396281413 | HSD11B2 | c.802G>C (p.Glu268Gln)
| |
16 | g.67436386G= | CA2229310124 | HSD11B2 | c.802G= (p.Glu268=)
| |
16 | g.67436386G>T | CA396281415 | HSD11B2 | c.802G>T (p.Glu268Ter)
| |
16 | g.67436388_67436391del | CA2565205420 | HSD11B2 | c.802+2_802+5del
| |
16 | g.67436392_67436421del | CA2633779482 | HSD11B2 | c.802+6_802+35del
| gnomAD v4 |
16 | g.67436387G>A | CA396281420 | HSD11B2 | c.802+1G>A (n.802+1G>A)
| gnomAD v4 |
16 | g.67436387G>C | CA396281427 | HSD11B2 | c.802+1G>C (n.802+1G>C)
| |
16 | g.67436387G>T | CA396281429 | HSD11B2 | c.802+1G>T (n.802+1G>T)
| |
16 | g.67436388del | CA2633779489 | HSD11B2 | c.802+2del (n.802+2del)
| gnomAD v4 |
16 | g.67436388T>A | CA396281436 | HSD11B2 | c.802+2T>A (n.802+2T>A)
| |
16 | g.67436388T>C | CA396281438 | HSD11B2 | c.802+2T>C (n.802+2T>C)
| |
16 | g.67436388T>G | CA396281441 | HSD11B2 | c.802+2T>G (n.802+2T>G)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436395_67436437del | CA2633779490 | HSD11B2 | c.802+9_802+51del (n.802+9_802+51del)
| gnomAD v4 |
16 | g.67436389G>A | CA623119602 | HSD11B2 | c.802+3G>A (n.802+3G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436389G= | CA2229310125 | HSD11B2 | c.802+3G= (n.802+3G=)
| |
16 | g.67436389G>T | CA2633779501 | HSD11B2 | c.802+3G>T (n.802+3G>T)
| gnomAD v4 |
16 | g.67436391del | CA2633779498 | HSD11B2 | c.802+5del (n.802+5del)
| gnomAD v4 |
16 | g.67436395_67436425del | CA2633779499 | HSD11B2 | c.802+9_802+39del (n.802+9_802+39del)
| gnomAD v4 |
16 | g.67436390G>A | CA623119603 | HSD11B2 | c.802+4G>A (n.802+4G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436390G= | CA2229310126 | HSD11B2 | c.802+4G= (n.802+4G=)
| |
16 | g.67436390_67436392del | CA2807429731 | HSD11B2 | c.802+4_802+6del (n.802+4_802+6del)
| |
16 | g.67436391G>A | CA723037199 | HSD11B2 | c.802+5G>A (n.802+5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436391G>C | CA8110735 | HSD11B2 | c.802+5G>C (n.802+5G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436391G= | CA2229310128 | HSD11B2 | c.802+5G= (n.802+5G=)
| |
16 | g.67436391G>T | CA2633779511 | HSD11B2 | c.802+5G>T (n.802+5G>T)
| gnomAD v4 |
16 | g.67436392A>G | CA2633779517 | HSD11B2 | c.802+6A>G (n.802+6A>G)
| gnomAD v4 |
16 | g.67436392_67436396del | CA2633779515 | HSD11B2 | c.802+6_802+10del (n.802+6_802+10del)
| gnomAD v4 |
16 | g.67436393A>C | CA978416356 | HSD11B2 | c.802+7A>C (n.802+7A>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436394T>C | CA2633779519 | HSD11B2 | c.802+8T>C (n.802+8T>C)
| gnomAD v4 |
16 | g.67436394T>G | CA2633779520 | HSD11B2 | c.802+8T>G (n.802+8T>G)
| gnomAD v4 |
16 | g.67436395C>A | CA2633779521 | HSD11B2 | c.802+9C>A (n.802+9C>A)
| gnomAD v4 |
16 | g.67436395C>G | CA2633779522 | HSD11B2 | c.802+9C>G (n.802+9C>G)
| gnomAD v4 |
16 | g.67436395C>T | CA2633779523 | HSD11B2 | c.802+9C>T (n.802+9C>T)
| gnomAD v4 |
16 | g.67436395_67436397del | CA2807429738 | HSD11B2 | c.802+9_802+11del (n.802+9_802+11del)
| |
16 | g.67436396A= | CA2229310131 | HSD11B2 | c.802+10A= (n.802+10A=)
| |
16 | g.67436396A>C | CA2633779524 | HSD11B2 | c.802+10A>C (n.802+10A>C)
| gnomAD v4 |
16 | g.67436396A>G | CA623119604 | HSD11B2 | c.802+10A>G (n.802+10A>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436396A>T | CA2576029169 | HSD11B2 | c.802+10A>T (n.802+10A>T)
| gnomAD v4 |
16 | g.67436397G>A | CA2633779535 | HSD11B2 | c.802+11G>A (n.802+11G>A)
| gnomAD v4 |
16 | g.67436397G>T | CA2633779534 | HSD11B2 | c.802+11G>T (n.802+11G>T)
| gnomAD v4 |
16 | g.67436400_67436405del | CA2633779536 | HSD11B2 | c.802+14_802+19del (n.802+14_802+19del)
| gnomAD v4 |
16 | g.67436405_67436434del | CA2633779526 | HSD11B2 | c.802+19_802+48del (n.802+19_802+48del)
| gnomAD v4 |
16 | g.67436399G>A | CA2576029170 | HSD11B2 | c.802+13G>A (n.802+13G>A)
| gnomAD v4 |
16 | g.67436399G= | CA2229310135 | HSD11B2 | c.802+13G= (n.802+13G=)
| |
16 | g.67436399G>T | CA623119605 | HSD11B2 | c.802+13G>T (n.802+13G>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436400del | CA2633779546 | HSD11B2 | c.802+14del (n.802+14del)
| gnomAD v4 |
16 | g.67436400C>A | CA8110737 | HSD11B2 | c.802+14C>A (n.802+14C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436400C= | CA2229310136 | HSD11B2 | c.802+14C= (n.802+14C=)
| |
16 | g.67436400C>G | CA2633779553 | HSD11B2 | c.802+14C>G (n.802+14C>G)
| gnomAD v4 |
16 | g.67436400C>T | CA2633779555 | HSD11B2 | c.802+14C>T (n.802+14C>T)
| gnomAD v4 |
16 | g.67436400_67436401del | CA2633779548 | HSD11B2 | c.802+14_802+15del (n.802+14_802+15del)
| gnomAD v4 |
16 | g.67436400_67436411delinsCTGGGGGTGGGG | CA2229310138 | HSD11B2 | c.802+14_802+25delinsCTGGGGGTGGGG (n.802+14_802+25delinsCTGGGGGTGGGG)
| |
16 | g.67436400_67436401insGGGGGGGGGGGG | CA2633779571 | HSD11B2 | c.802+14_802+15insGGGGGGGGGGGG (n.802+14_802+15insGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436401T>A | CA2633779561 | HSD11B2 | c.802+15T>A (n.802+15T>A)
| gnomAD v4 |
16 | g.67436401T>C | CA2633779560 | HSD11B2 | c.802+15T>C (n.802+15T>C)
| gnomAD v4 |
16 | g.67436401T>G | CA623119606 | HSD11B2 | c.802+15T>G (n.802+15T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436401T= | CA2229310140 | HSD11B2 | c.802+15T= (n.802+15T=)
| |
16 | g.67436412_67436422dup | CA2597391841 | HSD11B2 | c.802+26_802+36dup (n.802+26_802+36dup)
| gnomAD v3 gnomAD v4 |
16 | g.67436412_67436422del | CA8110736 | HSD11B2 | c.802+26_802+36del (n.802+26_802+36del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436406_67436422del | CA2633779565 | HSD11B2 | c.802+20_802+36del (n.802+20_802+36del)
| gnomAD v4 |
16 | g.67436406_67436429del | CA2633779568 | HSD11B2 | c.802+20_802+43del (n.802+20_802+43del)
| gnomAD v4 |
16 | g.67436407_67436450del | CA2633779564 | HSD11B2 | c.802+21_802+64del (n.802+21_802+64del)
| gnomAD v4 |
16 | g.67436409_67436492del | CA2633779562 | HSD11B2 | c.802+23_803-96del (n.802+23_803-96del)
| gnomAD v4 |
16 | g.67436402G>A | CA623119607 | HSD11B2 | c.802+16G>A (n.802+16G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436402G>C | CA2633779585 | HSD11B2 | c.802+16G>C (n.802+16G>C)
| gnomAD v4 |
16 | g.67436402G= | CA2229310142 | HSD11B2 | c.802+16G= (n.802+16G=)
| |
16 | g.67436402G>T | CA2633779587 | HSD11B2 | c.802+16G>T (n.802+16G>T)
| gnomAD v4 |
16 | g.67436406_67436407insGGGGGGG | CA2633779576 | HSD11B2 | c.802+20_802+21insGGGGGGG (n.802+20_802+21insGGGGGGG)
| gnomAD v4 |
16 | g.67436406_67436407insGGGGGGGG | CA2633779577 | HSD11B2 | c.802+20_802+21insGGGGGGGG (n.802+20_802+21insGGGGGGGG)
| gnomAD v4 |
16 | g.67436406_67436407insGGGGGGGGGGGGGGGGG | CA2633779579 | HSD11B2 | c.802+20_802+21insGGGGGGGGGGGGGGGGG (n.802+20_802+21insGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436406dup | CA2633779575 | HSD11B2 | c.802+20dup (n.802+20dup)
| gnomAD v4 |
16 | g.67436406del | CA2633779581 | HSD11B2 | c.802+20del (n.802+20del)
| gnomAD v4 |
16 | g.67436405_67436422del | CA2633779582 | HSD11B2 | c.802+19_802+36del (n.802+19_802+36del)
| gnomAD v4 |
16 | g.67436403G>A | CA2576029171 | HSD11B2 | c.802+17G>A (n.802+17G>A)
| gnomAD v4 |
16 | g.67436403G>T | CA2499692760 | HSD11B2 | c.802+17G>T (n.802+17G>T)
| gnomAD v4 |
16 | g.67436412_67436416dup | CA2633779591 | HSD11B2 | c.802+26_802+30dup (n.802+26_802+30dup)
| gnomAD v4 |
16 | g.67436412_67436416del | CA2633779593 | HSD11B2 | c.802+26_802+30del (n.802+26_802+30del)
| gnomAD v4 |
16 | g.67436404G>A | CA2633779595 | HSD11B2 | c.802+18G>A (n.802+18G>A)
| gnomAD v4 |
16 | g.67436404G>T | CA2633779596 | HSD11B2 | c.802+18G>T (n.802+18G>T)
| gnomAD v4 |
16 | g.67436405G>A | CA2633779600 | HSD11B2 | c.802+19G>A (n.802+19G>A)
| gnomAD v4 |
16 | g.67436405G>T | CA2633779603 | HSD11B2 | c.802+19G>T (n.802+19G>T)
| gnomAD v4 |
16 | g.67436406G>A | CA723037206 | HSD11B2 | c.802+20G>A (n.802+20G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436406G= | CA2229310144 | HSD11B2 | c.802+20G= (n.802+20G=)
| |
16 | g.67436406G>T | CA623119608 | HSD11B2 | c.802+20G>T (n.802+20G>T)
| gnomAD v2 gnomAD v4 |
16 | g.67436406_67436435del | CA2633779607 | HSD11B2 | c.802+20_802+49del (n.802+20_802+49del)
| gnomAD v4 |
16 | g.67436407del | CA623119609 | HSD11B2 | c.802+21del (n.802+21del)
| gnomAD v2 gnomAD v4 |
16 | g.67436407T>A | CA978416359 | HSD11B2 | c.802+21T>A (n.802+21T>A)
| gnomAD v3 gnomAD v4 |
16 | g.67436407T>C | CA2229310147 | HSD11B2 | c.802+21T>C (n.802+21T>C)
| dbSNP gnomAD v4 |
16 | g.67436407T>G | CA8110738 | HSD11B2 | c.802+21T>G (n.802+21T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436407T= | CA2229310146 | HSD11B2 | c.802+21T= (n.802+21T=)
| |
16 | g.67436411_67436434del | CA2633779631 | HSD11B2 | c.802+25_802+48del (n.802+25_802+48del)
| gnomAD v4 |
16 | g.67436410_67436439del | CA2633779629 | HSD11B2 | c.802+24_802+53del (n.802+24_802+53del)
| gnomAD v4 |
16 | g.67436408G>A | CA2633779633 | HSD11B2 | c.802+22G>A (n.802+22G>A)
| gnomAD v4 |
16 | g.67436408G>T | CA2633779632 | HSD11B2 | c.802+22G>T (n.802+22G>T)
| gnomAD v4 |
16 | g.67436411_67436412insGGGGGGG | CA2807429748 | HSD11B2 | c.802+25_802+26insGGGGGGG (n.802+25_802+26insGGGGGGG)
| |
16 | g.67436411_67436412insGGGGGGGGGGGGG | CA2633779639 | HSD11B2 | c.802+25_802+26insGGGGGGGGGGGGG (n.802+25_802+26insGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436411_67436412insGGGGGGGGGGGGGG | CA2633779638 | HSD11B2 | c.802+25_802+26insGGGGGGGGGGGGGG (n.802+25_802+26insGGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436411_67436412insGGGGGGGGGGGGGGGGGGGG | CA2633779635 | HSD11B2 | c.802+25_802+26insGGGGGGGGGGGGGGGGGGGG (n.802+25_802+26insGGGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436411dup | CA2633779640 | HSD11B2 | c.802+25dup (n.802+25dup)
| gnomAD v4 |
16 | g.67436411del | CA2576029172 | HSD11B2 | c.802+25del (n.802+25del)
| gnomAD v4 |
16 | g.67436417_67436422del | CA2633779637 | HSD11B2 | c.802+31_802+36del (n.802+31_802+36del)
| gnomAD v4 |
16 | g.67436410_67436422del | CA2633779634 | HSD11B2 | c.802+24_802+36del (n.802+24_802+36del)
| gnomAD v4 |
16 | g.67436409G>A | CA623119610 | HSD11B2 | c.802+23G>A (n.802+23G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436409G= | CA2229310149 | HSD11B2 | c.802+23G= (n.802+23G=)
| |
16 | g.67436409G>T | CA2633779641 | HSD11B2 | c.802+23G>T (n.802+23G>T)
| gnomAD v4 |
16 | g.67436410G>A | CA2633779644 | HSD11B2 | c.802+24G>A (n.802+24G>A)
| gnomAD v4 |
16 | g.67436410G>T | CA2633779645 | HSD11B2 | c.802+24G>T (n.802+24G>T)
| gnomAD v4 |
16 | g.67436412_67436414del | CA2576029173 | HSD11B2 | c.802+26_802+28del (n.802+26_802+28del)
| |
16 | g.67436411G>A | CA623119611 | HSD11B2 | c.802+25G>A (n.802+25G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436411G>C | CA2229310152 | HSD11B2 | c.802+25G>C (n.802+25G>C)
| dbSNP gnomAD v4 |
16 | g.67436411G= | CA2229310151 | HSD11B2 | c.802+25G= (n.802+25G=)
| |
16 | g.67436411G>T | CA2633779653 | HSD11B2 | c.802+25G>T (n.802+25G>T)
| gnomAD v4 |
16 | g.67436411_67436412insAG | CA2633779651 | HSD11B2 | c.802+25_802+26insAG (n.802+25_802+26insAG)
| gnomAD v4 |
16 | g.67436411_67436412insAA | CA2633779661 | HSD11B2 | c.802+25_802+26insAA (n.802+25_802+26insAA)
| gnomAD v4 |
16 | g.67436412T>A | CA978416360 | HSD11B2 | c.802+26T>A (n.802+26T>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436412T>C | CA2229310159 | HSD11B2 | c.802+26T>C (n.802+26T>C)
| dbSNP |
16 | g.67436412T>G | CA8110739 | HSD11B2 | c.802+26T>G (n.802+26T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67436412T= | CA2229310156 | HSD11B2 | c.802+26T= (n.802+26T=)
| |
16 | g.67436412_67436413delinsTG | CA2229310158 | HSD11B2 | c.802+26_802+27delinsTG (n.802+26_802+27delinsTG)
| |
16 | g.67436418_67436450del | CA2633779660 | HSD11B2 | c.802+32_802+64del (n.802+32_802+64del)
| gnomAD v4 |
16 | g.67436420_67436492del | CA2633779662 | HSD11B2 | c.802+34_803-96del (n.802+34_803-96del)
| gnomAD v4 |
16 | g.67436413G>A | CA8110745 | HSD11B2 | c.802+27G>A (n.802+27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67436413G= | CA2229310165 | HSD11B2 | c.802+27G= (n.802+27G=)
| |
16 | g.67436413G>T | CA2513452390 | HSD11B2 | c.802+27G>T (n.802+27G>T)
| gnomAD v4 |
16 | g.67436417_67436418insGGGGGGG | CA8110742 | HSD11B2 | c.802+31_802+32insGGGGGGG (n.802+31_802+32insGGGGGGG)
| dbSNP ExAC |
16 | g.67436417_67436418insGGGGGGGGGGGG | CA8110741 | HSD11B2 | c.802+31_802+32insGGGGGGGGGGGG (n.802+31_802+32insGGGGGGGGGGGG)
| dbSNP ExAC |
16 | g.67436417_67436418insGGGGGGGGGGGGG | CA2633779682 | HSD11B2 | c.802+31_802+32insGGGGGGGGGGGGG (n.802+31_802+32insGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436417_67436418insGGGGGGGGGGGGGGGGGG | CA2633779680 | HSD11B2 | c.802+31_802+32insGGGGGGGGGGGGGGGGGG (n.802+31_802+32insGGGGGGGGGGGGGGGGGG)
| gnomAD v4 |
16 | g.67436417_67436418insGGGGGGGGGGGGGGGGGGG | CA2597391842 | HSD11B2 | c.802+31_802+32insGGGGGGGGGGGGGGGGGGG (n.802+31_802+32insGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
16 | g.67436417dup | CA8110743 | HSD11B2 | c.802+31dup (n.802+31dup)
| dbSNP ExAC gnomAD v4 |
16 | g.67436413_67436417dup | CA8110740 | HSD11B2 | c.802+27_802+31dup (n.802+27_802+31dup)
| dbSNP ExAC |
16 | g.67436417del | CA723037220 | HSD11B2 | c.802+31del (n.802+31del)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436413_67436418delinsGGGGGT | CA2229310166 | HSD11B2 | c.802+27_802+32delinsGGGGGT (n.802+27_802+32delinsGGGGGT)
| |
16 | g.67436424_67436425insGGGGGGGGGGGGGGGGGGGGGGGTGGGGAA | CA2633779677 | HSD11B2 | c.802+38_802+39insGGGGGGGGGGGGGGGGGGGGGGGTGGGGAA (n.802+38_802+39insGGGGGGGGGGGGGGGGGGGGGGGTGGGGAA)
| gnomAD v4 |
16 | g.67436414G>A | CA2576029174 | HSD11B2 | c.802+28G>A (n.802+28G>A)
| |
16 | g.67436414G>T | CA2633779690 | HSD11B2 | c.802+28G>T (n.802+28G>T)
| gnomAD v4 |
16 | g.67436418_67436422del | CA8110744 | HSD11B2 | c.802+32_802+36del (n.802+32_802+36del)
| dbSNP ExAC |
16 | g.67436415G>A | CA623119612 | HSD11B2 | c.802+29G>A (n.802+29G>A)
| dbSNP gnomAD v2 |
16 | g.67436415G= | CA2229310174 | HSD11B2 | c.802+29G= (n.802+29G=)
| |
16 | g.67436415G>T | CA623119613 | HSD11B2 | c.802+29G>T (n.802+29G>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.67436418_67436421del | CA2576029175 | HSD11B2 | c.802+32_802+35del (n.802+32_802+35del)
| |
16 | g.67436416G>A | CA2633779698 | HSD11B2 | c.802+30G>A (n.802+30G>A)
| gnomAD v4 |
16 | g.67436416G>C | CA2633779700 | HSD11B2 | c.802+30G>C (n.802+30G>C)
| gnomAD v4 |
16 | g.67436416G= | CA2229310176 | HSD11B2 | c.802+30G= (n.802+30G=)
| |
16 | g.67436416G>T | CA8110746 | HSD11B2 | c.802+30G>T (n.802+30G>T)
| dbSNP ExAC gnomAD v4 |
16 | g.67436418_67436420del | CA2576029176 | HSD11B2 | c.802+32_802+34del (n.802+32_802+34del)
| |
16 | g.67436417G>A | CA2576029177 | HSD11B2 | c.802+31G>A (n.802+31G>A)
| gnomAD v4 |
16 | g.67436417G>C | CA2633779705 | HSD11B2 | c.802+31G>C (n.802+31G>C)
| gnomAD v4 |
16 | g.67436417G>T | CA2576029178 | HSD11B2 | c.802+31G>T (n.802+31G>T)
| gnomAD v4 |
16 | g.67436418del | CA2576029179 | HSD11B2 | c.802+32del (n.802+32del)
| |
16 | g.67436418T>A | CA978416363 | HSD11B2 | c.802+32T>A (n.802+32T>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436418T>C | CA978416362 | HSD11B2 | c.802+32T>C (n.802+32T>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.67436418T>G | CA8110747 | HSD11B2 | c.802+32T>G (n.802+32T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436418T= | CA2229310179 | HSD11B2 | c.802+32T= (n.802+32T=)
| |
16 | g.67436419G>C | CA2807429754 | HSD11B2 | c.802+33G>C (n.802+33G>C)
| |
16 | g.67436419G>T | CA2633779719 | HSD11B2 | c.802+33G>T (n.802+33G>T)
| gnomAD v4 |
16 | g.67436419_67436422del | CA2576029180 | HSD11B2 | c.802+33_802+36del (n.802+33_802+36del)
| |
16 | g.67436422_67436423insGGGGGGG | CA2576029182 | HSD11B2 | c.802+36_802+37insGGGGGGG (n.802+36_802+37insGGGGGGG)
| |
16 | g.67436422_67436423insGGGGGGGGGGGG | CA2741494983 | HSD11B2 | c.802+36_802+37insGGGGGGGGGGGG (n.802+36_802+37insGGGGGGGGGGGG)
| |
16 | g.67436422_67436423insGGGGGGGGGGGGGGGGGG | CA623119614 | HSD11B2 | c.802+36_802+37insGGGGGGGGGGGGGGGGGG (n.802+36_802+37insGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67436422dup | CA2576029181 | HSD11B2 | c.802+36dup (n.802+36dup)
| gnomAD v4 |
16 | g.67436422del | CA2633779717 | HSD11B2 | c.802+36del (n.802+36del)
| gnomAD v4 |
16 | g.67436429_67436430insGGGGGGGGGGGGGGGGGGGGGGGGGAATGGGG | CA2633779716 | HSD11B2 | c.802+43_802+44insGGGGGGGGGGGGGGGGGGGGGGGGGAATGGGG (n.802+43_802+44insGGGGGGGGGGGGGGGGGGGGGGGGGAATGGGG)
| gnomAD v4 |
16 | g.67436420G>A | CA2229310183 | HSD11B2 | c.802+34G>A (n.802+34G>A)
| dbSNP gnomAD v4 |
16 | g.67436420G= | CA2229310181 | HSD11B2 | c.802+34G= (n.802+34G=)
| |
16 | g.67436420G>T | CA8110748 | HSD11B2 | c.802+34G>T (n.802+34G>T)
| dbSNP ExAC gnomAD v4 |
16 | g.67436420_67436424del | CA2576029183 | HSD11B2 | c.802+34_802+38del (n.802+34_802+38del)
| |
16 | g.67436423_67436428del | CA2576029184 | HSD11B2 | c.802+37_802+42del (n.802+37_802+42del)
| |
16 | g.67436428_67436439del | CA2633779727 | HSD11B2 | c.802+42_802+53del (n.802+42_802+53del)
| gnomAD v4 |